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Sample records for wes fabb oration

  1. WES - Weihai Echelle Spectrograph

    CERN Document Server

    Gao, Dong-Yang; Cao, Chen; Hu, Shao-Ming; Wittenmyer, Robert A; Hu, Zhong-Wen; Grupp, Frank; Kellermann, Hanna; Li, Kai; Guo, Di-Fu

    2016-01-01

    The Weihai Echelle Spectrograph (WES) is the first fiber-fed echelle spectrograph for astronomical observation in China. It is primarily used for chemical abundance and asteroseismology studies of nearby bright stars, as well as radial velocity detections for exoplanets. The optical design of WES is based on the widely demonstrated and well-established white-pupil concept. We describe the WES in detail and present some examples of its performance. A single exposure echelle image covers the spectral region 371-1,100 nm in 107 spectral orders over the rectangular CCD. The spectral resolution $R=\\lambda/\\Delta\\lambda$ changes from 40,600 to 57,000 through adjusting the entrance slit width from full to 2.2 pixels sampling at the fiber-exit. The limiting magnitude scales to $V=8$ with a signal-to-noise ratio (SNR) of more than 100 in $V$ for an hour exposure, at the spectral resolution R$\\approx$40,000 in the median seeing of 1.7$^{\\prime\\prime}$ at Weihai Observatory (WHO) for the 1-meter telescope. The radial ve...

  2. Rufus Choate: A Unique Orator.

    Science.gov (United States)

    Markham, Reed

    Rufus Choate, a Massachusetts lawyer and orator, has been described as a "unique and romantic phenomenon" in America's history. Born in 1799 in Essex, Massachusetts, Choate graduated from Dartmouth College and attended Harvard Law School. Choate's goal was to be the top in his profession. Daniel Webster was Choate's hero. Choate became well…

  3. ORAT FOR GREEN CLOUD COMPUTING

    Directory of Open Access Journals (Sweden)

    K.L.Giridas

    2012-10-01

    Full Text Available As the IT trade progress towards game-changing expertise, a cloud Eco-system is gradually increasing in the country with expertise corporation ramping up employing and guiding for cloud computing. An accomplishment of green IT is probable to assist an organization in several ways like operating cost, stakeholder value, sustainability, employee morale and so on. In this paper, we propose an optimal resource allocation method for cloud computing environments. This paper progress a resource allocation representation of green cloud computing environments, considering both bandwidth and processing capability, allocated concurrently to every service request and returned it on an hourly basis. The owed resources are committed to every service request. It is established that, by simulationevaluation, the proposed ORAT method can diminish the request loss possibility and therefore, decrease the total resource obligatory, compared with the predictable allocation method. Various performancecharacteristics are compared to estimate the performance of the proposed ORAT in terms of processing ability, resource utilization, and bandwidth.

  4. Wes Jackson. In nature's way.

    Science.gov (United States)

    1992-09-01

    The opinions and a biographical sketch of Wes Jackson, the founder of the Land Institute, are presented. The land Institute near Salina, Kansas is a nonprofit organization devoted to sustainable agriculture. Opinions are provided on the relationship of the Land Institute to sustainable agriculture, the definition of sustainability, the feasibility of replication of his work, his ideas about the destruction wreaked by the plow vs. the sword, technology and population growth, the future farmer, and the speed with which modern science has destroyed the ozone layer. Sustainable agriculture is using the prairie to provide answers to how agriculture can work with nature; the approach will take longer but will sustain both agriculture and people for another 10,000 years. The system runs on sunlight and recycles all materials and is based on the principles of ecosystems, which have been around for hundreds of years. Agricultural technology is based on a fossil fuel intensive infrastructure and is "parachuted into Third World countries." "Corn - the gift of the gods has been the killer of this continent." 50% of the topsoil has been lost, and soil is more important than oil. Advances in biotechnology are seen as the "human cleverness" approach; the preference is for an ecological approach first. Biotechnology tells how to "spin wheels faster," but it also generates more waste. The future farmer is more like the 19th century British naturalist. A projection is that 1st the oil is used up, then the natural gas, and when nuclear power is embraced, Murphy's Law must be repealed. It is important to understand the "we can'ts". Realization of limits will direct energy to the sun's potential and recycling and the flow of energy. Descartes' notion of correctable ignorance must be repudiated. Our knowledge-based world has led to acid rain, global warming, the ozone hole, and Chernobyl. It took just 25 years for chlorofluorocarbons to destroy the ozone layer. A philosophical shift in

  5. CONTRAST AS EXPRESSIVE OPPOSITION IN DISCOURSE OF THE ORATOR

    OpenAIRE

    Zubkov Mikhail Dmitrievich

    2015-01-01

    The article deals with the notion of contrast in the orator's discourse on the example of speeches by the American pastor, leader of civil movement for human rights and public figure Martin Luther King Jr. Following the studies of M.Ya. Blokh and O.P. Martynova, the contrast in the discourse of the orator is regarded as expressive opposition with the help of which the orator exerts his influence over the audience. The dicteme, which was introduced by M.Ya. Blokh, is taken as a unit of analysi...

  6. CONTRAST AS EXPRESSIVE OPPOSITION IN DISCOURSE OF THE ORATOR

    Directory of Open Access Journals (Sweden)

    Zubkov Mikhail Dmitrievich

    2015-06-01

    Full Text Available The article deals with the notion of contrast in the orator's discourse on the example of speeches by the American pastor, leader of civil movement for human rights and public figure Martin Luther King Jr. Following the studies of M.Ya. Blokh and O.P. Martynova, the contrast in the discourse of the orator is regarded as expressive opposition with the help of which the orator exerts his influence over the audience. The dicteme, which was introduced by M.Ya. Blokh, is taken as a unit of analysis since it enables the author to better comprehend the ideas and meanings that the orator conveys. Based on the theory of contrast introduced by M.Ya. Blokh and O.P. Martynova, the three types of expressive opposition in the discourse of Martin Luther King Jr. are analysed, i.e. structural, semantic and compositional. The structural type includes contrast on the morphological and syntactic levels. The semantic type consists of contrast in the plot of the speech; and semantic and associative contrast by which the author means the opposition of the theme lines of the text. The composition type comprises contrast in the types of the speech and contrast in the composition types of the speech (introduction, basic part, conclusion. Contrast in stylistic devices is demonstrated on the example of antithesis and oxymoron. The use of contrast in the convergence of stylistic devices is also analyzed. The conclusion with regard to the role of contrast in the discourse of Martin Luther King Jr. is drawn.

  7. Fatty acid biosynthesis in Pseudomonas aeruginosa: cloning and characterization of the fabAB operon encoding beta-hydroxyacyl-acyl carrier protein dehydratase (FabA) and beta-ketoacyl-acyl carrier protein synthase I (FabB).

    OpenAIRE

    Hoang, T.T.; Schweizer, H P

    1997-01-01

    The Pseudomonas aeruginosa fabA and fabB genes, encoding beta-hydroxyacyl-acyl carrier protein dehydratase and beta-ketoacyl-acyl carrier protein synthase I, respectively, were cloned, sequenced, and expressed in Escherichia coli. Northern analysis demonstrated that fabA and fabB are cotranscribed and most probably form a fabAB operon. The FabA and FabB proteins were similar in size and amino acid composition to their counterparts from Escherichia coli and to the putative homologs from Haemop...

  8. Suppression of fabB Mutation by fabF1 Is Mediated by Transcription Read-through in Shewanella oneidensis.

    Science.gov (United States)

    Li, Meng; Meng, Qiu; Fu, Huihui; Luo, Qixia; Gao, Haichun

    2016-11-15

    As type II fatty acid synthesis is essential for the growth of Escherichia coli, its many components are regarded as potential targets for novel antibacterial drugs. Among them, β-ketoacyl-acyl carrier protein (ACP) synthase (KAS) FabB is the exclusive factor for elongation of the cis-3-decenoyl-ACP (cis-3-C10-ACP). In our previous study, we presented evidence to suggest that this may not be the case in Shewanella oneidensis, an emerging model gammaproteobacterium renowned for its respiratory versatility. Here, we identified FabF1, another KAS, as a functional replacement for FabB in S. oneidensis In fabB(+) or desA(+) (encoding a desaturase) cells, which are capable of making unsaturated fatty acids (UFA), FabF1 is barely produced. However, UFA auxotroph mutants devoid of both fabB and desA genes can be spontaneously converted to suppressor strains, which no longer require exogenous UFAs for growth. Suppression is caused by a TGTTTT deletion in the region upstream of the fabF1 gene, resulting in enhanced FabF1 production. We further demonstrated that the deletion leads to transcription read-through of the terminator for acpP, an acyl carrier protein gene immediately upstream of fabF1 There are multiple tandem repeats in the region covering the terminator, and the TGTTTT deletion, as well as others, compromises the terminator efficacy. In addition, FabF2 also shows an ability to complement the FabB loss, albeit substantially less effectively than FabF1.

  9. Buffels (Wes), Elsies, Sir Lowry's pass, Steenbras and Buffels (Oos)

    CSIR Research Space (South Africa)

    Heinecken, TJE

    1982-06-01

    Full Text Available This report is a synthesis of all available information on five of the smaller rivers discharging in to False bay combined as a single volume. The rivers dealt with are the Buffels (Wes), Elsies, Sir Lowry' Pass, Steenbras and Buffels (Oos). False...

  10. A 'new' Cromer-related high frequency antigen probably antithetical to WES.

    Science.gov (United States)

    Daniels, G L; Green, C A; Darr, F W; Anderson, H; Sistonen, P

    1987-01-01

    An antibody to a high frequency antigen, made in a WES+ Black antenatal patient (Wash.), failed to react with the red cells of a presumed WES+ homozygote and is, therefore, probably antithetical to anti-WES. Like anti-WES, it reacted with papain, ficin, trypsin or neuraminidase treated cells but not with alpha-chymotrypsin or pronase treated cells and was specifically inhibited by concentrated serum. It also reacted more strongly in titration with WES- cells than with WES+ cells. The antibody is Cromer-related as it failed to react with Inab phenotype (IFC-) cells and reacted only weakly with Dr(a-) cells. Wash. cells and those of the other possible WES+ homozygote are Cr(a+) Tc(a+b-c-) Dr(a+) IFC+ but reacted only very weakly with anti-Esa.

  11. [History of the locations of the Casa de Orates (madhouse) in Santiago, Chile].

    Science.gov (United States)

    Osorio A, Carlos G

    2016-03-01

    This work describes the origin of the different locations that Casa de Orates (Madhouse) has occupied in Chile. The locations of this institution at the Yungay and Chimba neighborhoods area are specially analyzed. Moreover, the sad and poorly known incident involving the national Madhouse of Providencia is narrated.

  12. A Weeping Man and the Mourning Ritual: Literati Writing and the Rhetoric of Funeral Oration in Eighteenth-Century Joseon

    National Research Council Canada - National Science Library

    Keysook Choe

    2013-01-01

    .... Next, it examines how the level of emotional expressiveness of the funeral oration was closely linked to bloodline, physical and psychological distance, the nature of a relationship, and social context...

  13. Impact of water extracts of Spirulina (WES on bacteria, yeasts and molds

    Directory of Open Access Journals (Sweden)

    Aleksandra Duda-Chodak

    2013-03-01

    Full Text Available Background. Due to its chemical composition, Spirulina is widely used as a dietary supplement that exerts positive effects on the human body. It also has the ability to inhibit the growth of cert ain microorganisms, both pathogens that pose a health hazard, as well as those that cause food spoilage in all branches of food industry. The main aim of this study was to determine the impact of water extracts of Spirulina (WES on the growth of various microorganism both useful and harmful for humans and the economy. Material and methods. The impact of different WES concentrations (0.1, 1.0, 2.5, or 5.0% on the growth of various bacteria, yeasts and molds was determined by diffusion method on solid medium. Results. It was demonstrated that WES have a diversifi ed impact on microorganisms, depending on the species. The inhibitory activity was shown against Bacillus subtilis, Micrococcus luteus, Rhodotorula, and Penicillium. WES had strong stimulating effect on Alicyclobacillus acidoterrestris and Geotrichum. Moreover, higher concentrations of WES stimulated also the development of mycelium and production of conidiophores by Cladosporium and Aspergillus niger. Conclusions. Inhibitory impact of WES on microorganisms that cause food spoilage may be used in food production. However, the obtained results indicate the need for further studies, particularly in order to evaluate the effect of the WES on microfl ora in the food matrices.

  14. Die Welt als Puppenhaus. Die verzauberten Filme des Wes Anderson als Retrospektive im Kino Xenix

    OpenAIRE

    Binotto, Johannes

    2012-01-01

    Nur gerade sieben Filme hat der Regisseur und Autor Wes Anderson bisher gemacht, damit aber ein einzigartiges Œuvre geschaffen. Das Xenix zeigt diese melancholischen und verspielten Kunstwerke, zusammen mit Filmen, die als Inspiration dienten.

  15. Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

    Science.gov (United States)

    Krabbenborg, Lotte; Vissers, L E L M; Schieving, J; Kleefstra, T; Kamsteeg, E J; Veltman, J A; Willemsen, M A; Van der Burg, S

    2016-12-01

    The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

  16. Study on the achievements of HAN Yu’s funeral oration%韩愈祭文的成就

    Institute of Scientific and Technical Information of China (English)

    高永康

    2014-01-01

    Funeral oration is a type of essay related to ritual ceremony in ancient China .It is different from other types of elegiac writing such as lament ,condolence writing ,and Lei etc .While there are numerous pieces of funeral oration through-out the history of Chinese literary ,only part of them have literary value and the funeral oration w ritten by HAN Yu is al-ways regarded as masterpiece .Scholars ,however ,usually focus on certain pieces of work only ,or discuss HAN’s funeral oration together with his elegiac writing .They seldom treat funeral oration as a genre of writing and analysis it in detail . This essay ,therefore ,will solely focus on HAN Yu’s funeral oration and will discuss its achievements in detail .%祭文为古代用于祭祀仪式的文体,与其他哀祭文体如诔、哀辞、吊文等在形式及作用上均有别,不宜混为一谈。历代祭文数量多不胜数,但拥有文学价值的作品却不多,而韩愈所创作的祭文便为文学史上的瑰宝,其作品如《祭十二郎文》更被誉为“祭文中千年绝调”。然而,论者研究时多集中讨论个别篇章,又时常把祭文与其他哀祭文体混为一谈,鲜有就韩愈的祭文作独立分析,故在此以传世的韩愈祭文为题,集中讨论其成就。

  17. Wes Anderson“反主流怪病”患者

    Institute of Scientific and Technical Information of China (English)

    胡桂林

    2012-01-01

    Wes Anderson的电影《月升王国》作为第65届戛纳电影节的开幕片,无疑是成功的。作为一个被称为“反主流怪病”患者的导演,Wes Anderson仍保持了其独特的个人风格,但是可以看出来他离主流又迈进了一步。

  18. Hobo Orator Union: Class Composition and the Spokane Free Speech Fight of the Industrial Workers of the World

    Science.gov (United States)

    May, Matthew S.

    2011-01-01

    From 1909 to 1910, the public performance of soap-box oratory began to effect dramatic changes in the composition of migrant workers throughout the Pacific Northwest. Municipal authorities in Spokane attempted to curb the formation of a union of hobo orators by outlawing public speech-making within the city fire limits. The ensuing confrontation…

  19. Hobo Orator Union: Class Composition and the Spokane Free Speech Fight of the Industrial Workers of the World

    Science.gov (United States)

    May, Matthew S.

    2011-01-01

    From 1909 to 1910, the public performance of soap-box oratory began to effect dramatic changes in the composition of migrant workers throughout the Pacific Northwest. Municipal authorities in Spokane attempted to curb the formation of a union of hobo orators by outlawing public speech-making within the city fire limits. The ensuing confrontation…

  20. 78 FR 1854 - ONEOK WesTex Transmission, L.L.C.; Notice of Petition for Rate Approval

    Science.gov (United States)

    2013-01-09

    ... Energy Regulatory Commission ONEOK WesTex Transmission, L.L.C.; Notice of Petition for Rate Approval Take notice that on December 21, 2012, ONEOK WesTex Transmission, L.L.C. (OWT) filed a rate election pursuant to section 284.123(b)(1) of the Commissions regulations. OWT states the rate election...

  1. 75 FR 70752 - ONEOK WesTex Transmission, LLC; Notice of Motion for Extension of Rate Case Filing Deadline

    Science.gov (United States)

    2010-11-18

    ... Federal Energy Regulatory Commission ONEOK WesTex Transmission, LLC; Notice of Motion for Extension of Rate Case Filing Deadline November 10, 2010. Take notice that on November 2, 2010, ONEOK WesTex Transmission, LLC (OWT) filed a request to extend the date for filing its next rate case to January 3,...

  2. The Work Experience Survey (WES) Manual: A Structured Interview for Identifying Barriers to Career Maintenance. A Service Provider's Guide.

    Science.gov (United States)

    Roessler, Richard T.; And Others

    This manual provides information on and instructions for administering the Work Experience Survey (WES), a 30- to 60-minute structured interview methodology to help individuals with disabilities direct their own accommodation planning. Section 1 describes the WES, which consists of six sections: (1) background information on the respondent, (2) an…

  3. WES Evaluation of the Three-Year Bachelor's Degree from India. Updated

    Science.gov (United States)

    World Education Services, 2014

    2014-01-01

    Based on its research and review of fundamental changes in quality assurance in higher education in India, in 2006 World Education Services (WES) revised its assessment of selected the three-year Bachelor's degree awarded by Indian universities. This policy takes into account specific criteria regarding institutional standing and student…

  4. Identification of a de novo DYNC1H1 mutation via WES according to published guidelines

    Science.gov (United States)

    Ding, Dongxue; Chen, Zhao; Li, Kai; Long, Zhe; Ye, Wei; Tang, Zhaoli; Xia, Kun; Qiu, Rong; Tang, Beisha; Jiang, Hong

    2016-01-01

    De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents), and a standard investigation and interpretation of the identified variants was performed according to the published guidelines. We identified a novel de novo mutation (c.2327C > T, p.P776L) in DYNC1H1 gene and confirmed that it was the causal variant. The phenotype of the affected twins included delayed motor milestones, pes cavus, lower limb weakness and atrophy, and a waddling gait. Electromyographic (EMG) recordings revealed typical signs of chronic denervation. Our study demonstrates the power of WES to discover the de novo mutations associated with a neurological disease on the whole exome scale, and guidelines to conduct WES studies and interpret of identified variants are a preferable option for the exploration of the pathogenesis of rare neurological disorders. PMID:26846447

  5. Linguistic Theories and Intellectual History in Michael Baxandall’s Giotto and the Orators

    Directory of Open Access Journals (Sweden)

    Allan Langdale

    2009-12-01

    Full Text Available This essay examines some theoretical and methodological aspects of Michael Baxandall’s book Giotto and the Orators. Humanist observers of painting in Italy and the discovery of pictorial composition of 1971. It includes reflections on the book’s reorientations of the scholarly debate over the relationship between Renaissance/Early Modern humanism and painting, as well as consideration of the linguistic theories that either directly or tangentially inform Baxandall’s method. Sources such as Wittgenstein, Cassirer, Ordinary Language Philosophy, and the Sapir-Whorf Hypothesis are discussed. Some of the book’s aims and methods are clarified by a comparison to Panofsky’s Gothic Architecture and Scholasticism of 1951.

  6. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES: Benefits and Limitations.

    Directory of Open Access Journals (Sweden)

    Amit Tiwari

    Full Text Available Inherited retinal dystrophies (IRDs are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES in 11 families with IRDs and identified disease-causing variants in 8 of them. Sequence analysis of about 250 IRD-associated genes revealed 3 previously reported disease-associated variants in RHO, BEST1 and RP1. We further identified 5 novel pathogenic variants in RPGRIP1 (p.Ser964Profs*37, PRPF8 (p.Tyr2334Leufs*51, CDHR1 (p.Pro133Arg and c.439-17G>A and PRPF31 (p.Glu183_Met193dup. In addition to confirming the power of WES in genetic diagnosis of IRDs, we document challenges in data analysis and show cases where the underlying genetic causes of IRDs were missed by WES and required additional techniques. For example, the mutation c.439-17G>A in CDHR1 would be rated unlikely applying the standard WES analysis. Only transcript analysis in patient fibroblasts confirmed the pathogenic nature of this variant that affected splicing of CDHR1 by activating a cryptic splice-acceptor site. In another example, a 33-base pair duplication in PRPF31 missed by WES could be identified only via targeted analysis by Sanger sequencing. We discuss the advantages and challenges of using WES to identify mutations in heterogeneous diseases like IRDs.

  7. Aproximació a l'univers fílmic de Wes Anderson: existeix una marca autoral?

    OpenAIRE

    Cadena Hernández, Adrià

    2016-01-01

    Al llarg del anys Wes Anderson s'ha postulat com un dels directors contemporanis més importants i influents. Aquest estudi revisa la totalitat de la seva filmografia, centrant-se en la seva última pel·lícula "The Grand Budapest Hotel". L'anàlisi pretén verificar si Wes Anderson pot ser considerat o no autor de les seves pel·lícules en base a les pautes estipulades per la política d'autors provinent de la Nouvelle Vague. A lo largo de los últimos años Wes Anderson se ha postulado como uno d...

  8. Contribuição para o diagnóstico ambiental da bacia hidrográfica do Rio Oratórios - MG.

    OpenAIRE

    Lacerda, Frederico Melo

    2013-01-01

    O Brasil precisa cada vez mais de experiências e metodologias que auxiliem o diagnóstico de bacias hidrográficas. Ter exemplos de estudos e diagnósticos cria um leque de conhecimento que pode ser usada como guia para as demais regiões do Brasil. No presente estudo foi feito um diagnóstico da microbacia do Rio Oratórios que está inserida na Bacia do Rio Doce, atendendo as cidades de Amparo do Serra, Oratórios e Ponte Nova, do estado de Minas Gerais. A metodologia aplicada durante a realização ...

  9. Using wesBench to Study the Rendering Performance of Graphics Processing Units

    Energy Technology Data Exchange (ETDEWEB)

    Bethel, Edward W

    2010-01-08

    Graphics operations consist of two broad operations. The first, which we refer to here as vertex operations, consists of transformation, lighting, primitive assembly, and so forth. The second, which we refer to as pixel or fragment operations, consist of rasterization, texturing, scissoring, blending, and fill. Overall GPU rendering performance is a function of throughput of both these interdependent stages: if one stage is slower than the other, the faster stage will be forced to run more slowly and overall rendering performance will be adversely affected. This relationship is commutative: if the later stage has a greater workload than the earlier stage, the earlier stage will be forced to 'slow down.' For example, a large triangle that covers many screen pixels will incur a very small amount of work in the vertex stage while at the same time incurring a relatively large amount of work in the fragment stage. Rendering performance of a scene consisting of many large-area triangles will be limited by throughput of the fragment stage, which will have relatively more work than the vertex stage. There are two main objectives for this document. First, we introduce a new graphics benchmark, wesBench, which is useful for measuring performance of both stages of the rendering pipeline under varying conditions. Second, we present its methodology for measuring performance and show results of several performance measurement studies aimed at producing better understanding of GPU rendering performance characteristics and limits under varying configurations. First, in Section 2, we explore the 'crossover' point between geometry and rasterization. Second, in Section 3, we explore additional performance characteristics, some of which are ill- or un-documented. Lastly, several appendices provide additional material concerning problems with the gfxbench benchmark, and details about the new wesBench graphics benchmark.

  10. Orator perfectus: la réplica de San Agustín al rétor ideal de Cicerón

    Directory of Open Access Journals (Sweden)

    Andrés Covarrubias Correa

    2007-01-01

    Full Text Available En este artículo muestro las semejanzas y disimilitudes en la caracterización del orador perfecto bajo las perspectivas de Cicerón y San Agustín, sobre todo desde el punto de vista ético. Mientras en Cicerón se pone en evidencia la dificultad de encontrar un modelo de orador ideal, producto de su preferencia por articular el arte retórico desde la retórica jurídica y su desconfianza en la posibilidad de encontrar la verdad en el marco de la palabra persuasiva, San Agustín opta por el modelo que debe imperar en el buen orador eclesiástico, que se establece a partir de los textos de las Sagradas Escrituras y de quienes los escribieron, donde la verdad está garantizada. Para este análisis me centro en el Orator ad M. Brutum de Cicerón y en el libro IV del De doctrina Christiana del filósofo de TagasteIn this article the author shows the similarities and dissimilarities in the characterization of the perfect orator from the perspectives of Cicero and St. Augustine, above all from the ethical point of view. While in Cicero the difficulty of finding a model for the ideal orator is evident, product of his preference for articulating rhetorical art from juridical rhetoric and his distrust of the possibility of finding the truth within the framework of the persuasive word, St. Augustine opts for the model that must predominate in the ecclesiastical orator, established from the texts of Sacred Scripture and from those who wrote them, where truth is guaranteed. For this analysis, the author focuses on Cicero's Orator ad M. Brutum and on Book IV of De doctrina Christiana of the philosopher of Tagaste

  11. Web-based Weather Expert System (WES) for Space Shuttle Launch

    Science.gov (United States)

    Bardina, Jorge E.; Rajkumar, T.

    2003-01-01

    The Web-based Weather Expert System (WES) is a critical module of the Virtual Test Bed development to support 'go/no go' decisions for Space Shuttle operations in the Intelligent Launch and Range Operations program of NASA. The weather rules characterize certain aspects of the environment related to the launching or landing site, the time of the day or night, the pad or runway conditions, the mission durations, the runway equipment and landing type. Expert system rules are derived from weather contingency rules, which were developed over years by NASA. Backward chaining, a goal-directed inference method is adopted, because a particular consequence or goal clause is evaluated first, and then chained backward through the rules. Once a rule is satisfied or true, then that particular rule is fired and the decision is expressed. The expert system is continuously verifying the rules against the past one-hour weather conditions and the decisions are made. The normal procedure of operations requires a formal pre-launch weather briefing held on Launch minus 1 day, which is a specific weather briefing for all areas of Space Shuttle launch operations. In this paper, the Web-based Weather Expert System of the Intelligent Launch and range Operations program is presented.

  12. Web-based Weather Expert System (WES) for Space Shuttle Launch

    Science.gov (United States)

    Bardina, Jorge E.; Rajkumar, T.

    2003-01-01

    The Web-based Weather Expert System (WES) is a critical module of the Virtual Test Bed development to support 'go/no go' decisions for Space Shuttle operations in the Intelligent Launch and Range Operations program of NASA. The weather rules characterize certain aspects of the environment related to the launching or landing site, the time of the day or night, the pad or runway conditions, the mission durations, the runway equipment and landing type. Expert system rules are derived from weather contingency rules, which were developed over years by NASA. Backward chaining, a goal-directed inference method is adopted, because a particular consequence or goal clause is evaluated first, and then chained backward through the rules. Once a rule is satisfied or true, then that particular rule is fired and the decision is expressed. The expert system is continuously verifying the rules against the past one-hour weather conditions and the decisions are made. The normal procedure of operations requires a formal pre-launch weather briefing held on Launch minus 1 day, which is a specific weather briefing for all areas of Space Shuttle launch operations. In this paper, the Web-based Weather Expert System of the Intelligent Launch and range Operations program is presented.

  13. Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs.

    Science.gov (United States)

    Krabbenborg, L; Schieving, J; Kleefstra, T; Vissers, L E L M; Willemsen, M A; Veltman, J A; van der Burg, S

    2016-02-01

    As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient experiences and preferences with regard to counselling are relatively underexplored. This article explores experiences and preferences of parents with pre-test and post-test counselling in a trial that uses WES for diagnostics. Second, it maps information and communication needs which exceed the counselling protocol, in order to acquire insight into how it can be improved. Data were gathered through in-depth interviews with parents of 15 children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to (i) the type and amount of information provided about WES research, (ii) incidental findings, (iii) communication about progress of the study, and (iv) the communication of the results. Furthermore, parents preferred to have more of a communicative exchange with health care providers about their daily struggles and concerns related to their life with a diseased child and wanted to know how a diagnosis could offer help. There are different ways to meet parental needs, but we suggest that assigning a case manager might be a helpful option that deserves further exploration.

  14. Santo de casa faz milagre: desenho e representação dos oratórios populares domésticos em Feira de Santana

    OpenAIRE

    Santos, Viviane da SIlva

    2014-01-01

    Esta dissertação caracteriza-se pela investigação dos os objetos religiosos denominados oratórios, de composição popular encontrados no ambiente doméstico de casas, chácaras, fazendas, antiquários e museus da cidade de Feira de Santana – BA. Neste estudo os oratórios são abordados quanto ao seu valor de cultura material e de memória visual que emerge dos lugares onde se localizam. A escolha deste tema justifica-se pelos seguintes aspectos: percebemos a diminuição da ocorrência de capelas e “q...

  15. Wes Andersons färgstarka värld : En studie av färg i film

    OpenAIRE

    Hallenquist, Peter

    2009-01-01

      Abstract The focus of this essay is the american director Wes Anderson and the use of colour in his films. I also put some focus on colour as a neglected element in film studies, and what has caused this neglect. In my own research, I have analysed three of Anderson's films: Bottle Rocket (1996), The Royal Tenenbaums (2001) and The Darjeeling Limited (2007). To get a broad sense of a films use of colour, I have investigated the colour scheme, the colours of the costumes, as well as colour p...

  16. La sacralització del territori en l’oratòria del barroc valencià

    Directory of Open Access Journals (Sweden)

    Antoni López Quiles

    2013-06-01

    Full Text Available Resum: El sermó barroc és una proposta de comprensió del món, el qual era considerat com un enigma a desxifrar. Per a donar explicació d’aquells enigmes, els predicadors desenvoluparan les homilies d’acord amb uns esquemes d’elaboració molt rígids que intenten donar resposta a la triple exigència que tenia la retòrica tradicional de docere, flectere et delectare, i que recolzen en tots els recursos literaris al seu abast. A partir de l’esforç d’explicar el món, l’orador àulic del barroc insistirà en la idea de sacralitzar els ambients vitals, tant el lloc com el temps. L’article dóna raó d’eixe intent sacralitzador de la vida, concretat, en aquest cas, a l’espai viscut.Paraules clau: Oratòria sagrada, Sermons, Barroc, Sacralització del territoriAbstract: The baroque sermon is a way of comprehension of the world, which was considered to be a enigma to deciphering. To give an explanation of those enigmas, the preachers will develop the homilies following very rigid schemes trying to give response to the triple exigency that the traditional rhetoric had of docere, flectere te delectare, and that they make it rest on all the literary resources to their reach. From the effort to explain the world, the baroque aulic speaker will insist on the idea of sanctifying vital environments, both the place and the time. The article gives an account of this sanctified attempt of the life, embodied in this case, in the lived space.Keywords: Sacred Oratory, Sermons, Baroque, Sanctify the territory

  17. O púlpito em defesa do Antigo Regime: a oratória franciscana na Corte joanina (1808-1821

    Directory of Open Access Journals (Sweden)

    William de Souza Martins

    2011-01-01

    Full Text Available O artigo considera a produção oratória de cinco frades franciscanos que atuaram no Rio de Janeiro: Antônio de Santa Úrsula Rodovalho, Francisco do Monte Alverne, Francisco de São Carlos, Francisco de Santa Teresa de Jesus Sampaio e Joaquim de São José. Sob a perspectiva da linguagem religiosa que representam, os sermões dos pregadores régios referidos são analisados em particular do ponto de vista das alegorias a que recorrem e da técnica da tipologia que evidenciam a respeito do poder.

  18. A vueltas con la alfabetización visual: lenguaje y significado en las películas de Wes Anderson

    Directory of Open Access Journals (Sweden)

    José Gabriel Ferreras Rodríguez

    2008-01-01

    Full Text Available El presente artículo tiene por objetivo discutir algunos elementos del concepto de la alfabetización visual, aplicando, luego, las herramientas de análisis de imágenes a las películas de Wes Anderson, como ejemplos del manejo intencional de las imágenes para transmitir determinados significados. The present article aims to discuss, firstly, some elements encompassed in the definition of visual literary and, secondly, to apply some image analysis tools to Wes Anderson’s movies, as examples of intentional pictorial organization so as to convey specific meanings.

  19. A vueltas con la alfabetización visual: lenguaje y significado en las películas de Wes Anderson

    OpenAIRE

    Ferreras Rodríguez, José Gabriel; Leite, Lucimeire Virgilio

    2008-01-01

    El presente artículo tiene por objetivo discutir algunos elementos del concepto de la alfabetización visual, aplicando, luego, las herramientas de análisis de imágenes a las películas de Wes Anderson, como ejemplos del manejo intencional de las imágenes para transmitir determinados significados. The present article aims to discuss, firstly, some elements encompassed in the definition of visual literary and, secondly, to apply some image analysis tools to Wes Anderson’s movies, as examples ...

  20. A vueltas con la alfabetización visual: lenguaje y significado en las películas de Wes Anderson

    OpenAIRE

    José Gabriel Ferreras Rodríguez; Lucimeire Vergilio Leite

    2008-01-01

    El presente artículo tiene por objetivo discutir algunos elementos del concepto de la alfabetización visual, aplicando, luego, las herramientas de análisis de imágenes a las películas de Wes Anderson, como ejemplos del manejo intencional de las imágenes para transmitir determinados significados. The present article aims to discuss, firstly, some elements encompassed in the definition of visual literary and, secondly, to apply some image analysis tools to Wes Anderson’s movies, as examples of...

  1. The Rahima Dawood Oration

    African Journals Online (AJOL)

    2001-12-05

    Dec 5, 2001 ... seen pathology due to cultural practices, mostly of the kind that have lost touch with their o n p a l environment induced purpose; and I have seen the impact of the ..... organisatory structure and upon our technology, undue.

  2. Coalescence judgment criteria for the interaction between two close surface cracks by WES2805 and its safety margin for brittle fracture assessment

    Directory of Open Access Journals (Sweden)

    Tomoya Kawabata

    2016-11-01

    Full Text Available It is important to consider the interaction between multiple cracks in evaluating the reliability of a structure. In this study, the stress intensity factor (K value is evaluated using the finite element method for interacting surface cracks. Although there are an infinite number of possible conditions of the locations and sizes of two close cracks, the cracks shall be located parallel to each other and have the same dimensions for simplification in this study. The K values on the crack front are calculated under various aspect ratios and relative locations. When there is a strong interaction (ΔKmax ≥ 10%, fracture analysis is generally performed after the coalescence of the two cracks by the FFS standard. As a result of the investigation of the critical condition of the positional parameters for coalescence, judgement criteria were introduced in WES2805 with some simplification. It was revealed that the coalescence process in WES2805 provides a safety margin.

  3. Chemical and laboratory analyses oceanographic data collected aboard the Wes Bordelon in the Gulf of Mexico from 2010-08-18 to 2010-08-22 in response to the Deepwater Horizon Oil Spill event (NODC Accession 0074863)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and laboratory analyses oceanographic data were collected aboard the Wes Bordelon in the Gulf of Mexico from 2010-08-18 to 2010-08-22 in response to the...

  4. Adaptación y validación psicométrica de la Escala de Clima Social Organizacional (WES) de Moos en México

    OpenAIRE

    García-Saisó,Alejandra; Ortega-Andeane,Patricia; Reyes-Lagunes,Isabel

    2014-01-01

    El propósito de este estudio fue generar un instrumento que permita medir el clima social organizacional en el entorno mexicano de manera confiable y válida. Para lo cual, se adaptó la Escala de Clima Social Organizacional (WES) versión en español (Moos, 2008), conformada por 90 reactivos con 6 opciones de respuesta; para realizar su validación psicométrica se aplicó a 490 trabajadores mexicanos, de entre 18 y 66 años de edad, 261 mujeres y 229 hombres con diferentes grados de escolaridad. Se...

  5. "Half a Century of Evolution of Neonatology: A Witness's Story" : Dr. K. C. Chaudhuri Lifetime Achievement Award Oration Delivered at AIIMS, New Delhi on 7th September 2014.

    Science.gov (United States)

    Vidyasagar, Dharmapuri

    2015-12-01

    Lifetime achievement awards are awarded to recognize contributions during the career of an individual, rather than for a single or multiple contributions of a person in his/her field of specialty. I am highly honored being the recipient of the Dr. K. C. Chaudhuri Lifetime Achiement Award Oration. The award for me is significant for several reasons: First being associated with legendary figure such as Dr. Chaudhuri, secondly being recognized by my fellow Indian colleagues. Finally, it also marks half a century of my experience in development of subspecialty of neonatology in US. Some fifty and odd years ago, as an young novice from India I joined the mainstream of this evolution, thanks to my professors and mentors in US and thanks to America, the land of opportunity. During this odyssey, I met many great men and women of science and intellect, saw great scientific discoveries, many innovations, combined with social changes that led to significant reduction of neonatal mortality rates in the industrialized Western countries. I also saw the "Globalization" of "Modern Neonatology" in which I participated with vigor; thus, improving the newborn care in four corners of the world. I am proud that I had the opportunity to contribute a little to growth of neonatology in US and outside the US. This is the story of my professional life. The message of my life story for the younger generation is : Dream big, never give up your dreams. Hardwork, maintaining your integrity, and honesty are the three precepts that will define your character and you will be rewarded in the long run.

  6. The Importance of Being ‘On the Road’: A Reading of the Journey in The Darjeeling Limited (2007 by Wes Anderson

    Directory of Open Access Journals (Sweden)

    José Duarte

    2015-06-01

    Full Text Available Road stories are significant cultural objects that “provide a ready space for [the] exploration” (Cohan and Hark 1997, 2 of different landscapes, contributing to the encounter of the traveller with him/herself or with the Other. These cultural encounters offer the opportunity both for inner reflection upon the nation in which the protagonists travel. Such is the case of the Whitman brothers in The Darjeeling Limited (2007, Wes Anderson, who embark on a journey in India, seeking spiritual enlightenment from the problems of the past. The confrontation with the foreign Other will not only put into perspective a changed notion of the Indian nation but also their true purpose in life. Based upon the idea of the transformative power of journeys, and considering The Darjeeling Limited as a road movie, this article analyzes the brothers’ awakening as they travel deeper into the Indian landscape to emerge with a renewed sense of self.

  7. 23rd May 2011 - University of Liverpool Pro-Vice-Chancellor and Public Orator K. Everest (UK) Mrs Everest in the ATLAS visitor centre with Collaboration Deputy Spokesperson D. Charlton, in LHCb surface building with Collaboration Spokesperson A. Golutvin, accompanied throughout by P. Wells and Liverpool University T. Bowcock and M. Klein.

    CERN Document Server

    Maximilen Brice

    2011-01-01

    23rd May 2011 - University of Liverpool Pro-Vice-Chancellor and Public Orator K. Everest (UK) Mrs Everest in the ATLAS visitor centre with Collaboration Deputy Spokesperson D. Charlton, in LHCb surface building with Collaboration Spokesperson A. Golutvin, accompanied throughout by P. Wells and Liverpool University T. Bowcock and M. Klein.

  8. Chemical and physical oceanographic profile data collected from CTD casts aboard the Wes Bordelon in the Gulf of Mexico from 2010-09-05 to 2010-09-13 in response to the Deepwater Horizon oil spill event (NODC Accession 0069085)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and physical oceanographic profile data were collected aboard the Wes Bordelon in the Gulf of Mexico from 2010-09-05 to 2010-09-13 in response to the...

  9. Chemical and physical oceanographic profile data collected from CTD casts aboard the Wes Bordelon in the Gulf of Mexico from 2010-08-18 to 2010-08-22 in response to the Deepwater Horizon oil spill event (NODC Accession 0069086)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and physical oceanographic profile data were collected aboard the Wes Bordelon in the Gulf of Mexico from 2010-08-18 to 2010-08-22 in response to the...

  10. Development of a WES Centrifuge,

    Science.gov (United States)

    1992-09-01

    centrifuge chamber during a long centrifuge flight ANS&A have suggested that a more practical and economical alternative would be to provide thermal barriers around...specifications and costs can be prepared, as follows; (10) Constant temperature and temperature gradient control system based on thermal barriers both...CONTROL SYSTEM Design study by ANS&A for constant temperature and temperature gradient control system based on thermal barriers both external to and

  11. O historiador e o orador: a inserção de Tucídides nos tratados retóricos ciceronianos - doi: 10.4025/dialogos.v13i1.365 The historian and the orator: inserting Thucydides into Cicero’s rhetoric treatises - doi: 10.4025/dialogos.v13i1.365 El historiador y el orador: la inserción de Tucídides en los tratados de Cícero

    Directory of Open Access Journals (Sweden)

    Moisés Antiqueira

    2010-05-01

    Full Text Available O artigo pretende delinear a maneira pela qual Cícero apropriou-se do modelo tucidideano no que concerne à relação entre a escrita da história e a oratória, tal como exposto em três tratados retóricos, a saber, De oratore, Brutus e Orator, no contexto da ascensão do movimento aticista em Roma em meados do século I a.C.The article aims to outline the manner in which Cicero appropriated the Thucydidean model with regard to the relationship between the writing of history and oratory, as exposed in three rhetoric  treatises, namely De oratore, Brutus and Orator, in the context of the rise of Atticism in Rome during the mid 1st century BC.Este artículo pretende delinear la forma en que Cícero se apropió del modelo de Tucídides en lo concerniente a la relación entre la escrita de la historia y la oratoria, tal como fue expuesto en tres tratados retóricos, a saber: De oratote, Brutus y Orator, dentro del contexto de ascensión del movimiento aticista en Roma a mediados del siglo I a.C.

  12. ANÁLISIS FACTORIAL EXPLORATORIO DE LA ESCALA DE SATISFACCIÓN LABORAL EN EMPLEADOS DE UN HOSPITAL PSIQUIÁTRICO DE BUCARAMANGA, COLOMBIA Exploratory factorial analysis of the working enviroment scale (WES among employees of a public psychiatric hospital in Bucaramanga, Colombia

    Directory of Open Access Journals (Sweden)

    Lucía Quintero Isaza

    2007-03-01

    Full Text Available Antecedentes. La satisfacción laboral es un factor importante para garantizar la productividad de las empresas. Existen varias escalas para cuantificarla. De éstas, la Escala de Satisfacción Laboral (WES-10 recientemente validada es la más breve. No obstante, hasta la fecha no se ha explorado la estructura factorial de la WES-10 en ningún grupo de empleados colombianos. Objetivo. Determinar la estructura factorial de la WES-10 en empleados de un hospital psiquiátrico público de Bucaramanga, Colombia. Material y métodos. Se diseñó un estudio de validación de una prueba de tamizaje sin un patrón de oro. Participaron 217 trabajadores que tenían una edad promedio de 37.7 años (DE±9.8, 75.4 por ciento mujeres, 49.5 por ciento con pareja estable, 37.0 por ciento con formación técnica o vocacional, 58.7 por ciento residentes en estrato socioeconómico medio, 51.7 por ciento con funciones asistencial y 13.0 años en promedio de trabajar en la institución (DE±8.8. La WES-10 es un instrumento de diez puntos con cinco opciones de respuesta ordinal. Se realizó un análisis factorial exploratorio mediante el método de componentes principales. Se retuvieron los factores que mostraron valores propios mayores de 1.0. Resultados: La WES mostró una consistencia interna de 0.78 y una estructura de dos factores explicaba el 48.8 por ciento de la varianza. El factor I (adaptación laboral alcanzó un valor propio de 3.49 y el factor II (autorrealización, 1.39. Conclusión. La WES-10 muestra una consistencia interna suficientemente alta para ser usada con fines de investigación y una estructura bidimensional que explora satisfactoriamente todo el contenido del constructo.Background. Job satisfaction is an important factor to guarantee work productivity. There are various scales to measure job satisfaction. Out of these scales, the recently validated Working Environment Scale-10 (WES-10 is the most brief. However, up to date the factor

  13. Espaço doméstico, devoção e arte:  a construção histórica do acervo de oratórios brasileiro, séculos XVIII e XIX

    OpenAIRE

    2010-01-01

    A presente tese estuda a produção artística de oratórios domésticos manufaturados no Brasil, sobretudo nos séculos XVIII e XIX, e que hoje se encontram recolhidos às dependências de museus brasileiros, públicos e particulares. Também, a tese procura compreender a dinâmica de sua trajetória no contexto doméstico, tomando, em particular, a São Paulo setecentista e oitocentista como cenário ilustrativo. Para esta abordagem, prima-se em observar tais artefatos religiosos ante seus dois distintos ...

  14. DIE VRYWILLIGERSMAGTE VAN GRIEKWALAND-WES

    Directory of Open Access Journals (Sweden)

    Maritz Broodryk

    2012-02-01

    Full Text Available 'READY AYE READY', the motto of the Diamond Fields Horse (DFH reflects the spirit at the time prevailing among volunteers for active service in this British Crown Colony. As stated elsewhere in this account of a colourful chapter in South Africa's history, "nowhere else in South Africa were recruits so willing to serve their country as in the Diamond Fields."

  15. El discreto encanto de Wes Anderson

    OpenAIRE

    Cuéllar Barona, Margarita Leonor

    2010-01-01

    Este artículo hace parte de la revista Papel de colgadura de la Facultad de Derecho y Ciencias Sociales de la Universidad Icesi de Cali, es una publicación de difusión y agitación cultural. La revista nace de la pasión por la música, los libros, las ilustraciones, el graffiti, los cómics, la web, la fiesta, el cine, la cafeína y de las tardes de tertulia con empanadas y cerveza, que circula en versión impresa dos veces al año, pero su versión digital se actualiza con mayor frecuencia....

  16. WES: A well test analysis expert system

    Energy Technology Data Exchange (ETDEWEB)

    Mensch, A.

    1988-06-01

    This report describes part of the development of an expert system in the domain of well-test analysis. This work has been done during my final internship, completed at the Lawrence Berkeley Laboratory. The report is divided in three parts: the first one gives a description of the state of the project at the time I first began to work on it, and raises some problems that have to be solved. The second section shows the results that have been reached, and the last one draws conclusions from these results and proposes extensions that would be useful in the future.

  17. Highness His Royal: Wes Anderson's Genius Lessons

    National Research Council Canada - National Science Library

    Winter, Jessica

    2001-01-01

    .... Salinger's novel "Franny and Zooey" and in the divorce of Anderson's parents. The director's first movie, "Bottle Rocket," was a box office failure, but what he learned during its production contributed to the success of his second, "Rushmore...

  18. Slam and the Citizen Orator: Teaching Civic Oration and Engagement through Spoken Word

    Science.gov (United States)

    Wells, Celeste C.; DeLeon, Daniel

    2015-01-01

    The activity described in this paper was developed in response to the experience of teaching a large lecture introduction course to freshman and sophomore undergraduates called "The Rhetorical Tradition." This course covers, roughly, the last 2500 years of rhetoric. One of the issues faced in this course is that students struggle to…

  19. PES and WES evaluation of CAD/CAM custom abutments and all ceramic crowns in the anterior teeth area%红、白美学评价 CAD/CAM 个性化基台与全瓷冠在前牙区的应用

    Institute of Scientific and Technical Information of China (English)

    张晓真; 周国兴; 戴文雍; 赵毅; 邱憬; 王洁; 汤春波

    2013-01-01

    Objective:To investigate the clinic application of computer aided design&computer aided manufacturing ( CAD/CAM) custom abutments and all ceramic crowns and evaluate their esthetic effect in the anterior teeth area according to the assessment criteria Pink Esthetic Score ( PES ) and White Esthetic Score ( WES ) .Methods:Totally 73 CAD/CAM custom abutments and all ceramic crowns were used in 51 implant-supported prosthesis cases .The esthetic prosthetic effect was evaluated according to the assessment cri-teria PES and WES.Results:The 3-month-follow-up results of totally 73 CAD/CAM custom abutments and all ceramic crowns of 51 pa-tients:the percentage of the PES scores of 10,8-9,6-7 and≤5 was 9.59%,71.23%,17.81%,and 1.37%,respectively;the percent-age of the WES scores of 10,8-9,6-7 and ≤5 was 39.73%,60.27%,0%,and 0%,respectively.The 6-month-follow-up results: the percentage of the PES scores of 10,8-9,6-7 and≤5 was 8.22%,69.86%,17.81%,and 4.11%,respectively;the percentage of the WES scores of 10,8-9,6-7 and≤5 was 36.99%,61.64%,1.37%,and 0%,respectively.The 1-year-follow-up results:the percentage of the PES scores of 10,8-9,6-7 and≤5 was 5.48%,68.49%,20.55%,and 5.48%,respectively;the percentage of the WES scores of 10,8-9,6-7 and ≤5 was 31.51%,64.38%,4.11%,and 0%,respectively.During the follow-up of 1 to 3 years,there was only one abutment got fractured when the torque control was installed ,and one loosened during observation .In all cases,the gingivae were in healthy condition ,and no further obvious gingival retreat or periimplantitis occurred .Conclusions:PES and WES are objective ,integrat-ed and comparable .CAD/CAM custom abutments and all ceramic crowns have good biocompatibility and chemical stability ,and can be more widely used in the anterior teeth area .However,their long term effects need to be confirmed by further follow-up.%目的:研究计算机辅助设计及计算机辅助制作( CAD/CAM )个性化基台及全瓷冠的临床

  20. Groot (WES) (CMS 23) and Sout (CMS 22)

    CSIR Research Space (South Africa)

    Morant, PD

    1983-06-01

    Full Text Available Little is known of the early history of the area surrounding the Groot and Sout estuaries. The densely forested terrain dissected by deep gorges caused the area to be avoided by early travellers who used the inland route via the Langkloof to Algoa...

  1. Representations of Power in the Byzantios Oration of Theodore Metochites: Illusions and Realities

    Directory of Open Access Journals (Sweden)

    Alexandra Voudourie

    2013-04-01

    Full Text Available The early 14th century and so far very little commented on Byzantios logos by Theodore Metochites appears to be the first surviving, lengthy, and independent city encomium in the Greek language since the 4th century Antiochikos logos by Libanios. Metochites seems to be quite familiar with the late antique tradition of the extended independent city praises and as a result the 70 folia long laus Constantinopolitana, includes all the expected, and power-indicating praising themes: thesis, foundation, walls, secular buildings and other infrastructure, occupations of the citizens, internal and external beauty, piety of the citizens and churches, secular education, ports and trade, commonwealth and cosmopolitanism, ecumenical character, intense Christian faith and synkrisis with other famous cities. But can an encomium of Constantinople, written in the dramatic first decade of the 14th century, really be a source of any power representations at all? Or should one reassess the encomiastic topoi and attempt to distinguish fact from fiction and power from illusion of power? Finally, can the lengthier and more persistent analysis of particular features serve as a proof of their more realistic character? The above questions are approached by using some hidden dating indicators of Byzantios logos, in addition to a critical evaluation of Metochites᾽ use of the late antique rhetorical guidelines, and in the light of the latest research on the economic and spiritual life in early Palaiologan Constantinople.

  2. Radioactivity: conception to birth. The Health Physics Society 1995 Radiology Centennial Hartman Oration.

    Science.gov (United States)

    Frame, P W

    1996-05-01

    Röntgen's description of his discovery of x rays was convincing and comprehensive. The response of the scientific community and public was immediate and intense. In contrast, the discovery of radioactivity was a muddled affair that excited little interest. While it would prove far more revolutionary than that of x rays, the discovery of radioactivity began, in the words of Alfred Romer, as something of a dead horse. There it lay, too big to ignore, but what did you do with it? Even the discoverer, Henri Becquerel, left it to decay and went on to pursue other interests. For various reasons, others chose to investigate: Marie and Pierre Curie in France, William Crookes in England, and Ernest Rutherford in Canada. But it was Frederick Soddy, a young chemist with a fascination for alchemy, who, together with Rutherford, revealed the true nature of radioactivity: transmutation.

  3. Discovery and resolve: the Human Genetics Society of Australasia Oration 2011.

    Science.gov (United States)

    Pearn, John

    2011-10-01

    Human genetics spans every facet of biology from molecular science, through laboratory and clinical practice, to psychology and anthropology. In each of these areas, the history of human genetics has been punctuated by paradigm shifts in knowledge. Each such new concept has been received with skepticism, often with perplexity, and sometimes with frank incredulity. Such comprise the datum milestones along the path leading to our present corpus of genetic knowledge. In parallel to the personal threats to Copernicus and Galileo in the field of astronomy in the 17th century, almost all genetic discoveries of the 19th and 20th centuries were seen as challenges to the received wisdom, and sometimes the social order, of their time and place. Researchers, scientists and clinicians encountering such new and often-heretical paradigm shifts have required considerable resolve to promote and publish their work. Just as in the field of astronomy, new directions in genetics have threatened not only the reputations and sometimes the careers of scientists, but also have been challenges to fundamental religious and sociological beliefs in society more broadly. Examples followed the discovery of biological sexual dimorphism (in plants as well as animals) by Nehemiah Grew (1641-1712). Darwinian evolution, Mendel's First and Second Laws, the existence of mitochondrial genes, apoptosis and its genetic basis, and uniparental disomy are more recent examples. Many of these new revelations, which today have led to the current understanding of fundamental biology, were discovered by individuals working in relative isolation. To promote and publish findings that fundamentally challenge received wisdom continues to require considerable resolve, if not courage. Herein lies a message for all clinicians and researchers.

  4. DEMOCRACY AND DEVELOPMENT IN WEsT AFRicA: How ...

    African Journals Online (AJOL)

    his paper examines the relationship between democracy and .... appointed top level bureaucrats and their support .... DEMOCRACY AND IJJ~VELOPMI1NT IN Wr~sT AnncA: HCJ\\V lN'l'UGRAL IS TUU ... Larry Diamond (2005) has pointed out.

  5. Vokaalverplasing in die Afrikaans van die Griekwas van Griekwaland-Wes

    Directory of Open Access Journals (Sweden)

    P. J.P. Henning

    1984-05-01

    Full Text Available Afrikaans is die totaal van al sy dialekte — Griekwa-afrikaans en Standaardafrikaans is maar twee voorbeelde daarvan. Chambers (1980:3 sê baie duidelik: “… a language is a collection of mutually intelligible dialects” . Hierdie definisie het die voordeel dat dit dialekte kan karakteriseer as subslandaarvorme van ’n taal en dit kan ook weer die kriterium wees om deur middel van vergelyking die variasies op te spoor.

  6. Design of the WES Centrifuge (Phase 3A and 3B)

    Science.gov (United States)

    1993-03-31

    review capabilities aid to consider the developmnent of equipmenst. instrumentation and expertise .- Tiere was a possibility of accepting a redutced...calculations would have to be sufficiently documnnted so as to allow a qualified engineer to undestand them without recourse to the ouignator. The date of the...The minidrum could provide a usdul vehide for teaching activities in cold regions. polludt n and carlquke. The natu of ANS&A s support during FY94

  7. Design and Potentials of the Californium-252 Radiation Facility at WES

    Science.gov (United States)

    1975-09-01

    standards, using an Image Quality Indicator (IQI) and also a Beam Purity Indicator (BPI),** shows a relatively good thermal and epithermal neutron ...colli-nated beam of the desired neutron radiation. Consideration of the basic nuclear properties was therefore a necessity in achieving the desired...The upper 6 ft has been designed for use in radiography and neutron counting. The steel tank was prefabricated in two sections. The lower 6-ft

  8. Evaluation of Geophysical Methods for Cavity Detection at the WES Cavity Test Facility.

    Science.gov (United States)

    1980-06-01

    reduction, and interpretive procedures for the crosshole method are described by Ballard (1976) and Butler, Skogland , and Landers (1978). The...K., Skogland , G. R., and Landers, G. B. 1970. "CROSSHOLE: An Interpretive Computer Code for Crosshole Seismic Test Results, Documentation ani Examples

  9. Bemarkingstrategieë vir die Wes-Transvaal Besigheideenheid van Kynoch Kunsmis Bpk. / Martin van Wyk

    OpenAIRE

    Van Wyk, Martin

    1993-01-01

    MARI(ET1NG STRATEGIES FOR THE WESTERN TRANSVAAL BUSINESS UNIT OF KYNOCH FERTILIZER LTD. The aim of this study was to develop a marketing strategy for a business unit of a fertilizer company, operating in the South African agricultural market. Sales of fertilizer declined over the last decade because of a sharp decline in the total market size as well as the deterioration of the financial position of the South African farmer. An overview of the historic development and ...

  10. 2015 RANZCOG Arthur Wilson Memorial Oration 'From little things, big things grow: The importance of periconception medicine'.

    Science.gov (United States)

    Norman, Robert J

    2015-12-01

    The time of our conception is when we are most vulnerable to survival and growing as a healthy human being. Genetic and environmental effects on gametes and the developing embryo can be literally life-and-death events with regard to the successful outcome of pregnancy. In the past decade, we have also understood that environmental factors under which the gametes grow and the embryo develops have lifelong implications with regard to developmental origins of health and disease. We now know that parenting begins before conception in that a compromised egg or sperm from either parent can alter the trajectory of development even if the embryo and intrauterine environment is optimal. There are now a large number of factors known to impact on the gametes to adversely affect them, including obesity, nutrition, cigarette smoking and environmental pollutants. The increasing use of in vitro fertilisation across the world exposes developing embryos to less than optimal environmental conditions through altered culture media, gases and potential pollutants from plastics, air and water. Many of these environmental exposures have not undergone experimental investigation and yet widely implemented in thousands of laboratories across the world. There have been many attempts to set up periconception planning either through the health service, the print and electronic media or through government action. We as a profession, as well as our Colleges, could do much better job in this area of preventative medicine by developing better guidelines and education for professional colleagues, the health service and the community.

  11. PSU/WES Interlaboratory Comparative Methodology Study of an Experimental Cementitious Repository Seal Material. Report 2. Final Results.

    Science.gov (United States)

    1982-03-01

    use of a saturated CaSO 4 solution as mixing water (higher apparent viscosity, less flow, gummy deposits which were relatively harder to remix, lower...However, it was observed that the sample with saturated CaSO 4 solution as mixing water tended to settle and form a gummy deposit, which was...x-ray diffraction 125 peaks. while the PSU procedure does not put as much emphasis on weak peaks. Bearing this difference in emphasis in mind,the

  12. Identification and Function Reasearch of fabA and fabB of Sinorhizobium meliloti%苜蓿中华根瘤菌fabA和fabB基因功能的鉴定

    Institute of Scientific and Technical Information of China (English)

    胡喆; 马金成; 蒋晶晶; 王海洪

    2013-01-01

    在大肠杆菌(Escherichia coli)脂肪酸合成酶体系中,fabA基因编码有双功能的3-羟基脂酰ACP脱水异构酶,其异构产物能被fabB基因编码的3-酮基脂酰ACP合成酶Ⅰ延伸,合成不饱和脂肪酸,该FabA-FabB途径被认为是缺氧条件下不饱和脂肪酸合成的经典途径.生物信息学分析发现,苜蓿中华根瘤菌(Sinorhizobium meliloti)的SmFabA与EcFabA相似性达到60.6%,具有相同的保守活性位点和两个保守的α螺旋结构;SmFabB与EcFabB相似性达到61.1%,具有相同的Cys-His-His活性中心.用携带SmfabA和SmfabB的质粒载体遗传互补大肠杆菌湿度敏感突变株CY57和CY242,在添加三氯森(TCL)抑制烯脂酰ACP还原酶活性的条件下,转化子能在42℃恢复生长,且放射性薄层层析能检测到转化子中不饱和脂肪酸棕榈油酸(A9C16:1)和十八碳烯酸(△11C18:1)的合成.体外重建脂肪酸合成反应表明,SmFabA能催化羟脂酰ACP的脱水反应且能够使反-2-癸烯酰ACP异构化,SmFabB能催化不同链长的脂酰ACP和丙二酸单酰ACP的聚合反应.另外,未得到SmFabA和SmFabB的突变株,表明SmFabA和SmFabB可能是苜蓿中华根瘤菌脂肪酸合成酶系中必不可少的关键蛋白.上述结果证实了苜蓿中华根瘤菌fabA和fabB两个基因在不饱和脂肪酸合成中的功能.

  13. Funeral Orations in the Chu State Bamboo Slip Inscriptions from Geling, Xincai%新蔡葛陵楚简中的祭祷文书

    Institute of Scientific and Technical Information of China (English)

    贾连敏

    2004-01-01

    本文时新蔡楚简中的一类简进行了初步的分类整理,并对其形制和书体、内容与格式、字词释读及相关问题进行了初步的探讨,认为这类简文是当时的祭祷文书.

  14. Field evap oration b ehaviour for carb on nanotub e thin-film%碳纳米管薄膜场蒸发效应∗

    Institute of Scientific and Technical Information of China (English)

    马玉龙; 向伟; 金大志; 陈磊; 姚泽恩; 王琦龙

    2016-01-01

    In recent years, the carbon nanotube (CNT) emitters used for ion sources or gas sensors have been investigated, and the progress of several approaches such as field ionization and field desorption sources has been reported. However, a major concern for these applications is possible loss of CNTs caused by field evaporation, which can shorten the lifetimes of CNT-based emitters used for high electric field ion sources. So in CNT-based field emitter technology, emitter lifetime and degradation will be key parameters to be controlled. However, up to now only very few investigations in this direction have been conducted. The reason for this might lie in the fact that one often considers that the threshold value of field evaporation for a kind of material (>40 V/nm) is much higher than the field of ionization or desorption (> 10 V/nm) according to the metal material characteristics (such as the threshold values of field evaporation for tungsten and molybdenum are 54 V/nm and 45 V/nm, respectively). In this work, the carbon nanotube thin-film (the density of CNTs is about 2.5 × 108/cm2) is fabricated by screen-printing method, and the field evaporation behavior of CNT thin-film is studied experimentally in an ultrahigh vacuum system typically operating at a pressure of lower than 10−9 Torr after a 4-hour bake-out at∼200 ◦C. Unlike the vertically aligned CNT array having higher electric field around the edge of the array because of the shielding effect, the printed CNT thin-film has more uniform distribution of electric field and is very easy to relize the mass production. The results show that the prepared CNT thin-film has quite obvious field evaporation behavior (some contaminants have deposited on the surface of grid after field evaporation, and energy-dispersive X-ray spectroscopy elemental mapping result of the grid indicates that the contaminants consist mainly of carbon elements), with turn-on field in a range of 10.0–12.6 V/nm, ion current could reach up to hundreds of pA. Meanwhile, the results with scanning electron microscope analysis and field electron emission measurement indicate that the CNT distribution turns into more non-uniform distribution after field evaporation;even some CNTs are directly dragged away from the substrate by the strong field. The field evaporation of CNT thin-film also leads to field electron emission onset voltage increasing from 240 V to 300 V, field enhancement factor decreasing from 8300 to 4200, and threshold field of field evaporation rising from 10.0 V/nm to 12.6 V/nm. However, the repeatability of sample treated by the field evaporation brings about an improvement to a certain extent. It could be understood in this way: upon applying a positive voltage, the most protruding parts, which have the strongest emissive capability, are evaporated first, which leads to the declined field enhancement factor; the parts of CNTs which have relatively weak emissive capability are not evaporated. So the uniformity of electric field is improved through reducing the difference in field enhancement factor rather than surface morphology between carbon nanotubes. The field evaporation of CNT thin-film is also a process which improves the uniformity of electric field. Therefore, the stability and repeatability of the field electron emission for carbon nanotube thin-film are improved naturally.

  15. Presidential Oration: The 18 th Annual Conference of the Indian Academy of Neurology, Trichi, Tamil Nadu, September 24-26, 2010, Epilepsy Care in Developing Countries

    Directory of Open Access Journals (Sweden)

    Radhakrishnan Kurupath

    2010-01-01

    Full Text Available Nearly 80% of the 50 million people with epilepsy worldwide reside in developing countries that are least equipped to tackle the enormous medical, social and economic challenges posed by epilepsy. These include widespread poverty, illiteracy, inefficient and unevenly distributed health care systems, and social stigma and misconceptions associated with epilepsy. Several studies have reported that a large proportion of patients with epilepsy in developing countries never receive appropriate treatment for their condition, and many, though diagnosed and initiated on treatment, soon discontinue treatment. Unaffordable cost of treatment, unavailability of antiepileptic drugs, and superstitious and cultural beliefs contribute to high epilepsy treatment gap in resource-poor countries. A significant proportion of the current burden of epilepsy in developing countries can be minimized by educating the public about the positive aspects of life with epilepsy and the primary and secondary physicians about current trends in the management of epilepsies, scaling up routine availability of low-cost antiepileptic drugs, and developing cost-effective epilepsy surgery programs.

  16. Wes Anderson: Design A World for Return%韦斯·安德森:设计世界以备回归

    Institute of Scientific and Technical Information of China (English)

    王昕

    2013-01-01

    韦斯·安德森的影片几乎都是对个人自由和核心家庭关系的探讨,本文通过对经济背景、影像源流的分析,展示其主题的成因.并通过对具体技法的归纳,解释其独特的影像风格是如何支撑其主题.

  17. Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.

    Science.gov (United States)

    G C C L Cardenas, Raony; D Linhares, Natália; L Ferreira, Raquel; Pena, Sérgio D J

    2017-06-01

    Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new software called Mendel,MD, which combines multiple types of filter options and makes use of regularly updated databases to facilitate exome and genome annotation, the filtering process and the selection of candidate genes and variants for experimental validation and possible diagnosis. This tool offers a user-friendly interface, and leads clinicians through simple steps by limiting the number of candidates to achieve a final diagnosis of a medical genetics case. A useful innovation is the "1-click" method, which enables listing all the relevant variants in genes present at OMIM for perusal by clinicians. Mendel,MD was experimentally validated using clinical cases from the literature and was tested by students at the Universidade Federal de Minas Gerais, at GENE-Núcleo de Genética Médica in Brazil and at the Children's University Hospital in Dublin, Ireland. We show in this article how it can simplify and increase the speed of identifying the culprit mutation in each of the clinical cases that were received for further investigation. Mendel,MD proved to be a reliable web-based tool, being open-source and time efficient for identifying the culprit mutation in different clinical cases of patients with Mendelian Disorders. It is also freely accessible for academic users on the following URL: https://mendelmd.org.

  18. Binge Drinking

    Medline Plus

    Full Text Available ... of the Eagle Wes Studi: Don’t Get Don’t Spread Wes Studi: Seasonal Flu Wes Studi: Signs Wes Studi: Signs (:60) Wes Studi: Signs (:30) Traveler’s Health Way to Go Way to Go: Many Healthy Returns (4:00) ...

  19. Hand Hygiene Saves Lives

    Medline Plus

    Full Text Available ... of the Eagle Wes Studi: Don’t Get Don’t Spread Wes Studi: Seasonal Flu Wes Studi: Signs Wes Studi: Signs (:60) Wes Studi: Signs (:30) Traveler’s Health Way to Go Way to Go: Many Healthy Returns (4:00) ...

  20. 风力发电机自循环蒸发内冷系统稳定性的研究∗%Static bifurcation analysis of natural circulation inner evap orative co oling system in wind turbine

    Institute of Scientific and Technical Information of China (English)

    王海峰; 李旺; 顾国彪; 沈俊; 滕启治

    2016-01-01

    Wind power is one of the most attractive renewable clean energies under development at present. On a global scale, wind power generation development was very rapid in recent years. As the wind power generation tends to develop toward large-scale and offshore, the traditional cooling methods gradually expose their own shortcomings. As the large wind turbine installation tower is high, and the installation site is dispersed, the installation and maintenance of wind turbine generator are difficult. So, the generator is required to have a small weight and less maintenance. Self-circulation inner evaporative cooling system (SCIECS) has the following advantages: self-circulation without pump, high cooling efficiency, safe and reliable operation, and basically maintain-free, etc. The self-circulation of cooling system can be realized by the 3◦–5◦ between wind turbine generator and the horizontal direction, and it is very suitable for being used in a large-scale wind power generator. Owing to the intrinsic nonlinearity of two-phase self-circulation system, changes of operation condition and circuit topology in a large range may lead to an instability of the cooling system, causing the system parameters to severly change. The instability of the cooling system can cause the local overheating and even burning of the generator, which provides a huge security risk for the cooling system, thus threatening the safe and stable operation of the generator. The stability of SCIECS is very important for the safe operation of wind turbine. In this paper, static stability of the SCIECS in wind power generator is studied based on the nonlinear bifurcation analysis theory and its numerical continuation method. System static bifurcation diagram is obtained to analyze the evolution characteristics of the SCIECS. Parameter effect of the system static bifurcation is analyzed at the same time. In order to verify the theoretical prediction of the static bifurcation of the small-angle two-phase natural circulation, an experimental platform is built. Static bifurcation of the SCIECS is observed experimentally. The experimental results show that the static bifurcation phenomenon exists in the natural circulation two-phase flow of small angle, and the theoretically predicted m-Q bifurcation curves are in good agreement with the experimental curves, which verifies the correctness of the theoretical analysis.%自循环蒸发内冷系统的冷却效率高,可以实现无泵自循环,运行安全可靠,基本免维护,因此适合在大型风力发电机中使用。蒸发内冷系统的稳定性对风力发电机的安全运行十分重要,本文基于非线性分岔理论及其数值延拓法,对自循环蒸发内冷系统应用于风力发电机的的静态稳定性进行了深入研究。获得了系统静态分岔解图,分析了系统演化特性,同时分析了系统分岔现象的参数效应。搭建了实验平台,通过实验观测到了自循环蒸发内冷系统的静态分岔现象,验证了理论计算的正确性。

  1. 受限胶体液滴蒸发过程中胶体颗粒沉积过程观察∗%Observation of colloidal particle dep osition during the confined droplet evap oration pro cess

    Institute of Scientific and Technical Information of China (English)

    吴赛; 李伟斌; 石峰; 蒋世春; 蓝鼎; 王育人

    2015-01-01

    亲水玻璃基片在掩模板的保护下,通过喷涂超疏水层,得到了被疏水层包围的圆形亲水区域。胶体液滴在这一区域被很好地限制,并且液滴体积可以在较大范围内变化,体积的变化可以改变液滴与基片的表观接触角。通过显微观察手段原位观察了表观接触角为疏水的受限胶体液滴蒸发过程中粒子沉积行为。在整个蒸发过程中,受限液滴边界被钉扎在亲疏水交界处。粒子沉积过程中,驱动粒子的液滴内部流动会发生变化。粒子沉积图案形成过程由三种流体行为控制,最初, Marangoni效应占主导作用,驱动粒子在液滴表面聚集,随之沉积到液滴边缘;随着蒸发进行,当接触角变小(<60◦)时,由于边界蒸发速度更快导致的毛细补偿流使得粒子直接向边界沉积。在干燥的最后阶段,亲水区域内的液层变得很薄,只有一单层粒子存在于这一薄液层中,蒸发继续进行时,薄液层发生失稳使得粒子迅速聚集而形成网络化图案,由于粒子间距变小,球间的液桥毛细力也会参与到这一聚集过程中。%A circular silicone sheet as a masker was used to cover a glass slide, and then the super-hydrophobic coating was sprayed on the glass slide free of silicone sheet masker, thus a round hydrophilic area surrounded by a super-hydrophobic coating is obtained. The PS colloidal droplets are confined in the hydrophilic area, and the droplet volume can be changed within a large range. Variation of the droplet volume influences the initial apparent contact angle. We investigate the particle deposition behavior of the confined colloidal droplet for a hydrophobic apparent contact angle in evaporation process by using an in situ optical observation system. In the whole evaporation process the contact-line of the confined droplet is pinned at the junction between the hydrophilic area and hydrophobic area. In the particle deposition process the main driving flow is different, and the final deposition pattern is controlled by three flow behaviors. In the early stage, the main flow is the Marangoni flow, which drives the particle clusters float on the droplet surfaces, part of them accumulated at the boundaries. As the evaporation proceeds, when the apparent contact angle decreases (<60◦), the evaporation flux becomes singular near the contact line, Capillary flow towards the contact inside the drop as a compensation to the solvent loss at the drop boundary, which drives the particles in the droplet to rapidly accumulate at the contact-line. In the last evaporation stage, the thickness of the film in the hydrophilic area becomes very thin, and there is only one layer of particles in this thin film, the thin liquid film instability triggers the particles in the middle area to rapidly aggregate and then form a kind of network pattern, due to the decrease of distances between the particles. Capillary force between particles also takes part in this aggregate process.

  2. The Space and Life of Athens in the Perikles's Funeral Oration%伯利克里葬礼演说中的雅典城市空间与城市生活

    Institute of Scientific and Technical Information of China (English)

    郭龙

    2015-01-01

    为纪念在战争中阵亡的将士,雅典的公民领袖伯里克利在城外的墓园发表了著名的葬礼演说.演说不仅反映了雅典人的世界观,也反映了民主制度下的城市空间.雅典的辉煌不仅在于政治、经济、军事、文化与城市空间的高度契合,还在于雅典公民与城市空间的相互建构.文本拟围绕这篇演说词来阐述雅典的政治制度、日常生活、祭祀、教育与城市空间的内在关系.

  3. Complex Binding of the FabR Repressor of Bacterial Unsaturated Fatty Acid Biosynthesis to its Cognate Promoters

    OpenAIRE

    Feng, Youjun; Cronan, John E.

    2011-01-01

    Two transcriptional regulators, the FadR activator and the FabR repressor control biosynthesis of unsaturated fatty acids in Escherichia coli. FabR represses expression of the two genes, fabA and fabB, required for unsaturated fatty acid synthesis and has been reported to require the presence of an unsaturated thioester (of either acyl carrier protein or CoA) in order to bind the fabA and fabB promoters in vitro. We report in vivo experiments in which unsaturated fatty acid synthesis was bloc...

  4. 75 FR 42611 - Energy Conservation Program for Consumer Products: Test Procedure for Microwave Ovens

    Science.gov (United States)

    2010-07-22

    ... visiting the Resource Room. FOR FURTHER INFORMATION CONTACT: Mr. Wes Anderson, U.S. Department of Energy..., SW., Washington, DC 20585- 0121. Tel.: (202) 586-7335. E-mail: Wes.Anderson@ee.doe.gov ....

  5. 75 FR 42579 - Energy Conservation Program for Consumer Products: Test Procedure for Microwave Ovens; Repeal of...

    Science.gov (United States)

    2010-07-22

    ... visiting the Resource Room. FOR FURTHER INFORMATION CONTACT: Mr. Wes Anderson, U.S. Department of Energy..., SW., Washington, DC 20585- 0121. Tel.: (202) 586-7335. E-mail: Wes.Anderson@ee.doe.gov ....

  6. 77 FR 65941 - Energy Conservation Program: Test Procedures for Residential Dishwashers, Dehumidifiers, and...

    Science.gov (United States)

    2012-10-31

    ... INFORMATION CONTACT: Mr. Wes Anderson, U.S. Department of Energy, Office of Energy Efficiency and Renewable.... Telephone: (202) 586-7335. Email: Wes.Anderson@ee.doe.gov . Ms. Elizabeth Kohl, U.S. Department of...

  7. 76 FR 79135 - Energy Conservation Program for Consumer Products and Certain Commercial and Industrial Equipment...

    Science.gov (United States)

    2011-12-21

    ....gov . FOR FURTHER INFORMATION CONTACT: Mr. Wes Anderson, U.S. Department of Energy, Office of Energy...., Washington, DC 20585-0121. Telephone: (202) 586-7335. Email: Wes.Anderson@ee.doe.gov . Ms. Jennifer...

  8. 76 FR 40285 - Energy Conservation Program for Consumer Products and Certain Commercial and Industrial Equipment...

    Science.gov (United States)

    2011-07-08

    ... Forrestal Building) no longer houses rulemaking materials. FOR FURTHER INFORMATION CONTACT: Mr. Wes Anderson...-mail: Wes.Anderson@ee.doe.gov . In the Office of General Counsel, contact Ms. Elizabeth Kohl,...

  9. 77 FR 31443 - Energy Conservation Program: Test Procedures for Residential Dishwashers, Dehumidifiers, and...

    Science.gov (United States)

    2012-05-25

    ... CONTACT: Mr. Wes Anderson, U.S. Department of Energy, Office of Energy Efficiency and Renewable Energy...: (202) 586-7335. Email: Wes.Anderson@ee.doe.gov . Ms. Elizabeth Kohl, U.S. Department of Energy,...

  10. Oncologists' and Cancer Patients' Views on Whole-Exome Sequencing and Incidental Findings: Results from The CanSeq Study

    OpenAIRE

    Gray, Stacy W.; Park, Elyse R.; Najita, Julie; Martins, Yolanda; Traeger, Lara; Bair, Elizabeth; Gagne, Joshua; Garber, Judy; Jänne, Pasi A.; Lindeman, Neal; Lowenstein, Carol; Oliver, Nelly; Sholl, Lynette; Van Allen, Eliezer M.; Wagle, Nikhil

    2016-01-01

    Purpose While targeted sequencing improves outcomes for many cancer patients, how somatic and germline whole-exome sequencing (WES) will integrate into care remains uncertain. Methods: We conducted surveys and interviews, within a study of WES integration at an academic center, to determine oncologists' attitudes about WES and to identify lung and colorectal cancer patients' preferences for learning WES findings. Results: 167 patients (85% white, 58% female, mean age 60) and 27 oncologists (2...

  11. Accommodating World Englishes in Developing EFL Learners' Oral Communication

    Science.gov (United States)

    Mukminatien, Nur

    2012-01-01

    This article aims to discuss issues of World Englishes (WEs) and the implications in ELT. It explores the extent to which WEs are taken into account as emerging English varieties different from inner circle varieties, how WEs should be accommodated by English teachers, and which standard to adopt to accommodate learner's linguistic needs for…

  12. 哀祭文的文体特点及在骈文和古文中表现之异同%The Stylistic Features of the Mourning Funeral Oration and the Similarities and Differences in its Application in Rhythmical Prose and Ancient Chinese Prose

    Institute of Scientific and Technical Information of China (English)

    金光

    2006-01-01

    哀祭文是指悼念死者或祭祀鬼神的文字.哀辞以悼童殇,吊文以慰亲属,诔文以彰德行,祭文用于典祀.本文试图通过对这一文体历史流变的述考,从文体学的角度结合具体文本认为其文体特点是:叙述事实纯正真实;运用文辞简洁核要;抒写感情哀伤缠绵.骈文哀祭文和古文哀祭文相同之处在于抒情性和实用性.不同之处表现在:1、渊源关系不同.2、语言形式不同.3、文体风格不同.4、对后世文风影响不同.

  13. The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.

    Science.gov (United States)

    Nguyen, M T; Charlebois, K

    2015-10-01

    Whole-exome sequencing (WES) carries the potential to facilitate the identification of disease causing genes. This is particularly relevant concerning rare diseases, which proves particularly difficult for physicians to diagnose. However, the complexity of this technology renders its applicability onto the clinical setting uncertain. Our study thus aims to understand physicians' perspectives regarding the clinical utility of WES, particularly for providing a diagnosis for patients with rare diseases. Ten semi-structured interviews were conducted with physicians with experience and familiarity with WES, and the major themes that emerged from our interviews were (i) the relevance of WES in diagnosing patients with rare diseases (appropriateness); (ii) the cost-effectiveness of WES (accessibility), (iii) the practical issues related to the clinical implementation of WES (practicability); and (iv) ethical, legal and social issues (acceptability). Our study highlights how the clinical implementation of WES presents additional challenges where rare diseases are taken into consideration.

  14. Department of the Navy Supporting Data for Fiscal Year 1984 Budget Estimates Descriptive Summaries Submitted to Congress January 1983. Research, Development, Test & Evaluation, Navy. Book 3. Tactical Programs, Intelligence, & Communications Management & Support

    Science.gov (United States)

    1983-01-01

    743 63731m MARINE CORPS COMHAND/CONTROL/COMUNICATIONS SYSTEMS (ADVANCED) ---------------..............---------- 748 63734N CHALK CORAL ...Vocational Aptitvdm Battery Analysis. " MAnsyis of Marino Cortps Mission.. * Coot aet tOrational liffetiveemes Anslysts for the Lauding Vabeik Trrae

  15. Journal of Philosophy and Culture, Volume 5. No.1, March 2014

    African Journals Online (AJOL)

    ABUNDANCE

    recorded speeches of the Attic orators along with literary ... rights. They had limited rights to dispose of their sexual capacities and this was ... were respected and enjoyed freedom comparable to that .... offending wife is very soundly cudgelled.

  16. The rhetoric of public speech in a digital era

    NARCIS (Netherlands)

    Hoven, P.J. van den

    2012-01-01

    In the early Chinese tradition as well as in the Western tradition, rhetorical studies predominantly address one prototypical communicative setting; an orator delivers a carefully prepared speech to a well-defined audience on a well-defined occasion.

  17. Experiment list: SRX501926 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available of four extra-embryonic membranes to form during EMBRYOGENESIS. In REPTILES and BIRDS, it arises from endoderm and mesoderm to incorp...orate the EGG YOLK into the DIGESTIVE TRACT for nourishing the embryo. In placental

  18. Experiment list: SRX501925 [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available of four extra-embryonic membranes to form during EMBRYOGENESIS. In REPTILES and BIRDS, it arises from endoderm and mesoderm to incorp...orate the EGG YOLK into the DIGESTIVE TRACT for nourishing the embryo. In placental

  19. Analysis of Administrative Information Flow in a Military Medical Center Pursuant to Design of a Data Base Management System That will Ultimately Support a Hospital Information System.

    Science.gov (United States)

    1983-12-01

    Myers, neurosurgeon, has noted symp- toms of bradicardia in a six month old female. The symtoms suggest pressure is occurring in the posterior fossa...Direct- orate Aerospace Medicine, Directorate Physiological Train- ing, Directorate Hospital Services, Directorate Veterinary Services, Directorate

  20. Analysis of wax ester molecular species by high performance liquid chromatography/atmospheric pressure chemical ionisation mass spectrometry.

    Science.gov (United States)

    Vrkoslav, Vladimír; Urbanová, Klára; Cvacka, Josef

    2010-06-18

    High chromatographic resolution of wax esters (WEs) was achieved by non-aqueous reversed-phase liquid chromatography on a Nova-Pak C18 column by optimising the acetonitrile/ethyl acetate mobile phase gradient. The retention behaviour of WEs was studied in this chromatographic system. The WEs eluted according to their equivalent carbon number (ECN) values; within the group of WEs with the identical ECN, the most unsaturated species tended to elute first. The isobaric WEs with different positions of the ester moiety were separated from each other whenever the lengths of the chains were sufficiently different. The methyl-branched esters eluted at shorter retention times than the straight-chained analogues, and the resolution among methyl-branched WEs depended on the position of the branching. The analytes were detected by atmospheric pressure chemical ionisation mass spectrometry (APCI-MS) using data-dependent scanning. WEs provided simple full-scan spectra with abundant protonated molecules and low-intensity fragments. Collision-induced dissociation (CID) promoted identification of the WE molecular species. The responses of WEs were found to be dependent on the number of double bonds and on the alkyl-chain length; the limits of the detection ranged from 20micromol/L to 200nmol/L. The HPLC/APCI-MS was applied for the analysis of the WEs isolated from honeycomb beeswax, jojoba oil and human hair. Good agreement between reported results and the literature data was achieved, with several novel polyunsaturated WEs also being found.

  1. Det slutna rummets offentlighet : Om epideiktisk frimurarretorik

    OpenAIRE

    Willén, Marcus

    2012-01-01

    The Lodge as a Public Sphere. Epideictic Aspects on Masonic Rhetorics The question about the change of doxa is central in the postdoctoral project ”The Temple of Immortality. Moral, Mysticism and Masculinity in the Swedish Order of Freemasons 1735-1796”. The article demonstrates a ceremonial oration within the fraternity and analyzes the rhetorical strategy. It shows how the adjustment of form to content challenges the genre boundaries. The main question is how the orator deals with the strai...

  2. Exome sequencing greatly expedites the progressive research of Mendelian diseases.

    Science.gov (United States)

    Zhang, Xuejun

    2014-03-01

    The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.

  3. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

    OpenAIRE

    C Alexander Valencia; Ammar eHusami; Jennifer eHolle; Johnson, Judith A; Yaping eQian; Abhinav eMathur; Chao eWei; Subba Rao Indugula; Fanggeng eZou; Haiying eMeng; Lijun eWang; Xia eLi; Rachel eFisher; Tony eTan; Amber eHogart Begtrup

    2015-01-01

    Background There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. Objective We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cos...

  4. 76 FR 55834 - Efficiency and Renewables Advisory Committee, Appliance Standards Subcommittee, Negotiated...

    Science.gov (United States)

    2011-09-09

    ...: Richard Anderson (Fayetteville PWC) Tim Ballo (Earthjustice) Scott Beck (Lakeview Metals) John Caskey...) Michael Hyland (APPA) David Millure (Metglas) Steve Nadel (ACEEE) Wes Patterson (ABB) Eric Petersen...

  5. ACCOMMODATING WORLD ENGLISHES IN DEVELOPING EFL LEARNERS’ ORAL COMMUNICATION

    Directory of Open Access Journals (Sweden)

    Nur Mukminatien

    2012-07-01

    Full Text Available This article aims to discuss issues of World Englishes (WEs and the implications in ELT. It explores the extent to which WEs are taken into account as emerging English varieties different from inner circle varieties, how WEs should be accomodated by English teachers, and which standard to adopt to accommodate learner’s linguistic needs for international communication. It would help ELT practitioners adjust their current practices through the inclusion of varieties of WEs in developing learners’ oral communication. This offers relevant pedagogical movement to argue that changes should be made about the way English is valued and taught.

  6. 76 FR 30555 - Energy Conservation Program for Consumer Products: Test Procedures for Residential Central Air...

    Science.gov (United States)

    2011-05-26

    ...-2945 or e-mail: Brenda.Edwards@ee.doe.gov . FOR FURTHER INFORMATION CONTACT: Mr. Wes Anderson, U.S..., 1000 Independence Avenue, SW., Washington, DC 20585-0121. Telephone: (202) 586-7335. E-mail: Wes.Anderson@ee.doe.gov . Ms. Jennifer Tiedeman, U.S. Department of Energy, Office of the General Counsel,...

  7. Oncologists' and Cancer Patients' Views on Whole-Exome Sequencing and Incidental Findings: Results from The CanSeq Study

    Science.gov (United States)

    Gray, Stacy W.; Park, Elyse R.; Najita, Julie; Martins, Yolanda; Traeger, Lara; Bair, Elizabeth; Gagne, Joshua; Garber, Judy; Jänne, Pasi A.; Lindeman, Neal; Lowenstein, Carol; Oliver, Nelly; Sholl, Lynette; Van Allen, Eliezer M.; Wagle, Nikhil; Wood, Sam; Garraway, Levi; Joffe, Steven

    2016-01-01

    Purpose While targeted sequencing improves outcomes for many cancer patients, how somatic and germline whole-exome sequencing (WES) will integrate into care remains uncertain. Methods We conducted surveys and interviews, within a study of WES integration at an academic center, to determine oncologists' attitudes about WES and to identify lung and colorectal cancer patients' preferences for learning WES findings. Results 167 patients (85% white, 58% female, mean age 60) and 27 oncologists (22% female) participated. Although oncologists had extensive experience ordering somatic tests (median 100/year), they had little experience ordering germline tests. Oncologists intended to disclose most WES results to patients but anticipated numerous challenges in using WES. Patients had moderately low levels of genetic knowledge (mean 4 correct of 7). Most patients chose to learn results that could help select a clinical trial, pharmacogenetic and positive prognostic results, and results suggesting inherited predisposition to cancer and treatable non-cancer conditions (all ≥95%). Fewer chose to receive negative prognostic results (84%) and results suggesting predisposition to untreatable non-cancer conditions (85%). Conclusion The majority of patients want most cancer-related and incidental WES results. Patients' low levels of genetic knowledge and oncologists' inexperience with large-scale sequencing presage challenges to implementing paired WES in practice. PMID:26866579

  8. Identification of innate immunodeficiencies by whole genome sequencing

    DEFF Research Database (Denmark)

    Mogensen, Trine; Christiansen, Mette; Veirum, Jens Erik

    2014-01-01

    implications. Methods: As part of a pilot study we performed WES on 4 patients with herpes encephalitis or mucocutaneous manifestations of HSV infection. WES was performed with Illumina technology (Illumina HiSeq/MiSeq) and analyzed PolyPhen-2 (Polymorphism Phenotyping v2) PhyloP, and SIFT prediction software...

  9. World Englishes, English as an International Language and Applied Linguistics

    Science.gov (United States)

    Kilickaya, Ferit

    2009-01-01

    The paper discusses World Englishes (WEs) in relation to English as an International Language (EIL) and Applied Linguistics. Taking into account Kachru's interesting but at the same time controversial debate about the status of English in its varieties, which are commonly called WEs and the opposing ideas presented by Quirk, it is aimed to present…

  10. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    NARCIS (Netherlands)

    Willsey, A. Jeremy; Fernandez, Thomas V.; Yu, Dongmei; King, Robert A.; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J.; Mandell, Jeffrey D.; Huang, Alden Y.; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E.; Neale, Benjamin M.; Coppola, Giovanni; Mathews, Carol A.; Tischfield, Jay A.; Scharf, Jeremiah M.; State, Matthew W.; Heiman, Gary A.

    2017-01-01

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186

  11. Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies

    NARCIS (Netherlands)

    Jazayeri, Omid

    2016-01-01

    The research presented in this thesis focuses on using Whole Exome Sequencing (WES) to unravel the genetic basis of human hereditary disorders with different inheritance patterns. We set out to apply WES as a diagnostic approach for establishing a molecular diagnosis in a highly heterogeneous group

  12. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    NARCIS (Netherlands)

    Willsey, A. Jeremy; Fernandez, Thomas V.; Yu, Dongmei; King, Robert A.; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J.; Mandell, Jeffrey D.; Huang, Alden Y.; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E.; Neale, Benjamin M.; Coppola, Giovanni; Mathews, Carol A.; Tischfield, Jay A.; Scharf, Jeremiah M.; State, Matthew W.; Heiman, Gary A.

    2017-01-01

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 tri

  13. Designing Multimedia Learning Systems for Adult Learners: Basic Skills with a Workforce Emphasis. NCAL Working Paper.

    Science.gov (United States)

    Sabatini, John P.

    An analysis was conducted of the results of a formative evaluation of the LiteracyLink "Workplace Essential Skills" (WES) learning system conducted in the fall of 1998. (The WES learning system is a multimedia learning system integrating text, sound, graphics, animation, video, and images in a computer system and includes a videotape series, a…

  14. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

    Science.gov (United States)

    Valencia, C Alexander; Husami, Ammar; Holle, Jennifer; Johnson, Judith A; Qian, Yaping; Mathur, Abhinav; Wei, Chao; Indugula, Subba Rao; Zou, Fanggeng; Meng, Haiying; Wang, Lijun; Li, Xia; Fisher, Rachel; Tan, Tony; Hogart Begtrup, Amber; Collins, Kathleen; Wusik, Katie A; Neilson, Derek; Burrow, Thomas; Schorry, Elizabeth; Hopkin, Robert; Keddache, Mehdi; Harley, John Barker; Kaufman, Kenneth M; Zhang, Kejian

    2015-01-01

    There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups. To determine the clinical utility of our hospital's clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Of the first 40 clinical cases, we identified genetic defects in 12 (30%) patients, of which 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, seven have autosomal dominant disease and five have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings and of those, secondary medical actionable results were returned in three cases. Among these positive cases, there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single-gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of genetic disorders.

  15. Structural Characterisation of the Beta-Ketoacyl-Acyl Carrier Protein Synthases, FabF and FabH, of Yersinia pestis

    OpenAIRE

    Jeffrey D. Nanson; Himiari, Zainab; Swarbrick, Crystall M. D.; Forwood, Jade K.

    2015-01-01

    Yersinia pestis, the causative agent of bubonic, pneumonic, and septicaemic plague, remains a major public health threat, with outbreaks of disease occurring in China, Madagascar, and Peru in the last five years. The existence of multidrug resistant Y. pestis and the potential of this bacterium as a bioterrorism agent illustrates the need for new antimicrobials. The β-ketoacyl-acyl carrier protein synthases, FabB, FabF, and FabH, catalyse the elongation of fatty acids as part of the type II f...

  16. Localization of double bonds in wax esters by high-performance liquid chromatography/atmospheric pressure chemical ionization mass spectrometry utilizing the fragmentation of acetonitrile-related adducts.

    Science.gov (United States)

    Vrkoslav, Vladimír; Háková, Martina; Pecková, Karolina; Urbanová, Klára; Cvačka, Josef

    2011-04-15

    Unsaturated wax esters (WEs) provided molecular adducts with C(3)H(5)N ([M + 55](+•)) in APCI sources in the presence of acetonitrile. CID MS/MS of [M + 55](+•) yielded fragments allowing the localization of double bond(s) in the hydrocarbon chains of the WEs. These fragments were formed by a cleavage on each side of the double bond. In methylene-interrupted polyunsaturated WEs, diagnostic fragments related to each double bond were detected; the most abundant were those corresponding to the cleavage of the C-C bond next to the first and the last double bond. To differentiate between those fragments differing in their structure or origin, a simple nomenclature based on α and ω ions has been introduced. Fragmentation of the α-type ions (fragments containing an ester bond) provided information on the occurrence of a double bond in the acid or alcohol part of the WEs. While no significant differences between the spectra of the WEs differing by cis/trans isomerism were found, the isomers were separated chromatographically. A data-dependent HPLC/APCI-MS(2) method for the comprehensive characterization of WEs in their complex mixtures has been developed and applied to natural mixtures of WEs isolated from jojoba oil and beeswax. More than 50 WE molecular species were completely identified, including the information on the acid and alcohol chain length and the position of the double bonds.

  17. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience

    Directory of Open Access Journals (Sweden)

    C. Alexander Valencia

    2015-08-01

    Full Text Available Background: There are limited reports of the use of whole exome sequencing as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES.Objective: We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups.Methods: To determine the clinical utility of our hospital’s clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Results: Of the first 40 clinical cases, we identified genetic defects in twelve (30% patients, of which, 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, 7 have autosomal dominant disease and 5 have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings, and of those, secondary medical actionable results were returned in three cases. Among these positive cases there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. Conclusions: We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of

  18. A neurotropic virus (chikungunya) and a neuropathic aminoacid

    National Research Council Canada - National Science Library

    Wadia, R

    2007-01-01

    ... virus (Chikungunya) and a neuropathic aminoacid (Homocysteine)." This implies two topics in one oration; however, in the previous year, nearly half a dozen different topics that were related only by sex were included. They both cause encephalopathy, myelopathy and neuropathy and may affect the muscles and eyes and show teratogenicity. Moreover, there ...

  19. Musical Emotions: Functions, Origins, Evolution

    Science.gov (United States)

    2010-01-01

    is its) power to move” emotions (Glareanus, the 16th c.). This thought “a medieval thinker would have found incomprehensible. . . The new...music of antiquity, which according to their ideas was in close connection with rhetoric, the art of orators and actors. A literary expression of these

  20. Heckling in Hyde Park: Verbal Audience Participation in Popular Public Discourse

    DEFF Research Database (Denmark)

    McIlvenny, Paul

    1996-01-01

    Speakers' Corner is a multicultural setting in a London park at which the general public can actively participate in popular debate. A successful 'soap-box' orator should attract and keep an audience, elicit support from the crowd and gain applause; indeed, a mastery of the crowd, the discourse a...

  1. What Works. Summary of Research Findings with Implications for Navy Instruction and Learning

    Science.gov (United States)

    1988-09-01

    for excellence: An effective schools sour- ebook (pp. 82-85). Washington, DC: U.S. Govemmeat Printing Office. Morris, V.C., Crowson. R., Hurwitz, E...prose. In D.M. Willows & H.A. Houghton (Eds.), The psychology of ill•oration: I. Basic research. New Yo&i: Springer - Verlag. Wulfeck, W.H., Chang, F.R

  2. Educational Reform 1983-1994: New Ideas or the Rebirth of Quintilian's Ideologies?

    Science.gov (United States)

    Kasper, Beverly B.

    2005-01-01

    Marcus Fabius Quintilianus (A.D. 35-95) was a teacher of rhetoric in Rome during the first century of imperial Rome. His seminal work, "De Institutio Oratoria"--The Education of the Orator, was written during his retirement. Quintilian's experience as a teacher had an impact on his ideologies and "De Institutio Oratoria" combined his practitioner…

  3. Wij zijn geen Crapuul! Jacob Kats’ strijd als vroegsocialistisch theatermaker, redenaar en journalist

    NARCIS (Netherlands)

    Bussels, S.; van Oostveldt, B.

    2012-01-01

    Jacob Kats, a weaver, emerged as a playwright, an orator and a journalist very soon after Belgium became independent. He spoke up for his fellow workers in all these capacities and thus participated in the first social struggles in Belgium. This article highlights several events in 1836, when Kats e

  4. A new perspective on John Snow's communicable disease theory.

    Science.gov (United States)

    Winkelstein, W

    1995-11-01

    When John Snow undertook the studies of the cholera epidemic of 1854 in London, he was testing his theory of communicable disease, which had been enunciated in an oration delivered at the 80th anniversary of the Medical Society of London. Snow had been elected orator of the year for 1853 and, according to his biographer, had spent the better part of a year in preparation. The oration was titled, "On Continuous Molecular Changes, More Particularly in Their Relation to Epidemic Diseases." Although the text of this oration is readily available in the 1936 Commonwealth Fund facsimile reprint of Snow's more famous cholera studies, few modern epidemiologists are familiar with the work. In it, Snow lays out a theory which includes recognition that for each communicable disease there is a distinct and specific cause, that the causal agent is a living organism which is stable over many generations of propagation, that infection is necessary for communication to occur, and that the quantity of infectious material transmitted is increased by multiplication after infection to produce disease manifestations. Although Snow's theory is similar to Jacob Henle's formulations of a decade earlier, it is more precise, more comprehensive, and more explicit. On the basis of this work alone, Snow deserves broader recognition than he has received.

  5. Ekklesia Synkletos in Classical Athens and the Ekklesiai Held in the Eighth Prytany of 347/6

    Directory of Open Access Journals (Sweden)

    Mogens Herman Hansen

    2010-11-01

    Full Text Available The evidence of the inscriptions and orators shows (a that an ekklesia synkletos could address questions other than those that occasioned the meeting, (b that it need not have been an extra meeting but only summoned by extraordinary procedures.

  6. Block Motion from Detonations of Buried Near-Surface Explosive Arrays

    Science.gov (United States)

    1980-12-01

    Estancia Valley, 45 miles east only attempt at using a nonplanar explosive ar- of Albuquerque, New Mexico, in a rather compli- ray designed to focus the...Pratt, H., Oration, I.L. and Zbur, R. (1%91 Geology and and iI and PLANEWAVE I aiid II AFWL-TR-69-12 material properties of the Estancia Valley test site

  7. Between grammar and rhetoric : Dionysius of Halicarnassus on language, linguistics, and literature

    NARCIS (Netherlands)

    Jonge, Casper Constantijn de

    2006-01-01

    The Greek rhetorician and historian Dionysius of Halicarnassus was active in Rome at the end of the first century BC. In his rhetorical writings, he analyses the styles of classical Greek orators, historiographers and poets, including Homer, Lysias, Isocrates, Demosthenes and Thucydides. Dionysius b

  8. Homer and rhetoric in Byzantium: Eustathios of Thessalonike on the composition of the Iliad

    NARCIS (Netherlands)

    van den Berg, B.

    2016-01-01

    This thesis focuses on the rhetorical analysis of the Iliad by Eustathios of Thessalonike, a widely celebrated intellectual, teacher, and orator in twelfth-century Byzantium. More specifically, it explores Eustathios’ analysis of the composition of the Iliad, i.e. the way in which Homer has selected

  9. The Martial "Virtue" of Rhetoric in Machiavelli's "Art of War."

    Science.gov (United States)

    Wiethoff, William E.

    1978-01-01

    Argues that Machiavelli's inherent interest in pragmatic, "virtuous" applications of humanistic arts mandated both rhetorical form and matter in his composition of the "Art of War." Proposes that the work reveals Machiavelli's debt to the classically humane ideal of the warrior-orator. (JMF)

  10. Bringing the Magic of Folk Literature and Nursery Rhymes to Communication Classes

    Science.gov (United States)

    Gan, Ivan

    2015-01-01

    Orators of folk literature and nursery rhymes entertain, inform, and persuade their audiences through the straightforward plots in those genres. Because nursery rhymes recitations usually happen in groups, they help children acquire the mechanics of oral communication and promote communal bonding. Although nursery rhymes have a simpler form than…

  11. 西塞罗

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Marcus Tullius Cicero (January 3, 106 BC- December 7, 43 BC), was a Roman philosopher, statesman, lawyer, political theorist, and Roman constitutionalist. He came from a wealthy municipal family, and is widely considered one of Rome's greatest orators and

  12. Why Should Speech Rate (Tempo) Be Integrated into Pronunciation Teaching Curriculum

    Science.gov (United States)

    Yurtbasi, Meti

    2015-01-01

    The pace of speech i.e. tempo can be varied to our mood of the moment. Fast speech can convey urgency, whereas slower speech can be used for emphasis. In public speaking, orators produce powerful effects by varying the loudness and pace of their speech. The juxtaposition of very loud and very quiet utterances is a device often used by those trying…

  13. Research in child and adolescent psychiatry in India

    Science.gov (United States)

    Shastri, Priyavadan Chandrakant; Shastri, Jay P.; Shastri, Dimple

    2010-01-01

    The primary source for this annotation on child and adolescent psychiatry is Indian Journal of Psychiatry. Articles covering various dimensions of child and adolescent mental health were searched from its electronic data base to discuss relevant articles. Literature was mainly in the form of original research articles, review articles, case reports, editorials, orations and presidential address. PMID:21836681

  14. The Martial "Virtue" of Rhetoric in Machiavelli's "Art of War."

    Science.gov (United States)

    Wiethoff, William E.

    1978-01-01

    Argues that Machiavelli's inherent interest in pragmatic, "virtuous" applications of humanistic arts mandated both rhetorical form and matter in his composition of the "Art of War." Proposes that the work reveals Machiavelli's debt to the classically humane ideal of the warrior-orator. (JMF)

  15. Between grammar and rhetoric : Dionysius of Halicarnassus on language, linguistics, and literature

    NARCIS (Netherlands)

    Jonge, Casper Constantijn de

    2006-01-01

    The Greek rhetorician and historian Dionysius of Halicarnassus was active in Rome at the end of the first century BC. In his rhetorical writings, he analyses the styles of classical Greek orators, historiographers and poets, including Homer, Lysias, Isocrates, Demosthenes and Thucydides. Dionysius b

  16. "An Impossible Ambition"?: Roy Mitchell's Creative Idealism and the Spiritual Nexus between Theatre and Theosophy

    Science.gov (United States)

    Kivisto, Mikko William

    2009-01-01

    Though a participant of the Little Theatre Movement in North America, Roy Mitchell was largely ignored or--at best--marginalized by theatre practitioners and scholars after his death in 1944 until the late 1980s. Most of the material written about him had labelled him a prophet--a lone voice in the wilderness advocating for a new direction from a…

  17. Sappho and Socrates: The Nature of Rhetoric

    Science.gov (United States)

    Parish, Rachel

    2012-01-01

    This short graphic novel details two very different rhetoricians co-existing simultaneously in Ancient Greece, Sappho and Socrates, and their definitions and performances of rhetoric. While both share certain styles and techniques, a noticeable difference in the ways they create rhetorical prose and oration can be clearly seen, showing that Sappho…

  18. Losing Something In Translation: Turning Requirements Into Specifications

    Science.gov (United States)

    2016-06-01

    specialized in Organizational Behavior. Perhaps the reader remembers the comedy routine in which a performer orates a lyrical, emotive passage in a deep...management combine into a contact sport ; bad things happen when each specialization works in isolation. The requirements manager—representing the

  19. Hazardous Waste Research Center

    Data.gov (United States)

    Federal Laboratory Consortium — The U.S. Army Engineer Waterways Experiment Station (WES) is playing a major role in development of technologies for cleanup of toxic and hazardous waste in military...

  20. Hand Hygiene Saves Lives

    Medline Plus

    Full Text Available ... Antivirals (:60) Wes Studi: Antivirals (:30) Why Flu Vaccination Matters Lifestyle Healthy Swimming Is No Accident No ... 22) Zika Virus Prevention for Puerto Rico (:30) Vaccination A Key Piece of the Puzzle: Vaccinations Adult ...

  1. Binge Drinking

    Medline Plus

    Full Text Available ... Antivirals (:60) Wes Studi: Antivirals (:30) Why Flu Vaccination Matters Lifestyle Healthy Swimming Is No Accident No ... 22) Zika Virus Prevention for Puerto Rico (:30) Vaccination A Key Piece of the Puzzle: Vaccinations Adult ...

  2. Identification of genetic defects in primary immunodeficiencies by whole exome sequencing

    DEFF Research Database (Denmark)

    Christiansen, Mette; Jensen, Jens Magnus Bernth; Veirum, Jens Erik

    2014-01-01

    to hypogammaglobulinaemia, and increased risk of both infections as well as cancer. We employed whole exome sequencing (WES) to identify mutations associated with primary immunodeficiency in severely affected children. We present WES data on 2 patients with severe immunodeficiency. WES was performed using TruSeq exome kit...... and severe infections including sepsis. Second, we identified compound heterozygote stopgain mutations in RAD52 and a heterozygote mutation in LRRC8A in a 7 year-old girl with T-cell deficiency, reduced T-cell mediated B-cell activity, hypogammaglobulinaemia, prolonged splenomegali and benign adenopathy. RAD......52 has not previously been linked to immunodeficiency and we are currently investigating the functional consequences. Knowledge of the mechanisms underlying immunodeficiencies is a prerequisite for understanding disease pathogenesis. WES allows the demonstration of immune defects that may result from...

  3. Evaluation and comparison of health care Work Environment Scale in military settings.

    Science.gov (United States)

    Maloney, J P; Anderson, F D; Gladd, D L; Brown, D L; Hardy, M A

    1996-05-01

    The purpose of this study was to describe health care providers' perceptions of their work environment at a large U.S. Army medical center, and to compare the findings to other military medical centers. The sample (N = 112) consisted of the professional nursing staff working on the nine inpatient units. The Work Environmental Scale (WES) was used to measure perceptions of the workplace relative to gender, position (head nurses, staff nurses, and agency nurses), specialty nursing (intensive care unit [ICU] versus non-ICU), education (MSN, BSN, and ADN), and patterns of differences between the WES subscales of four military medical centers. Results of the study indicate that there were no significant gender differences. Head nurses, non-ICU nurses, and MSN nurses perceived their environment more positively. There were significant differences in the WES subscales between the military hospitals. Implications for nursing using the WES were recommended.

  4. 76 FR 37549 - Energy Conservation Program: Energy Conservation Standards for Residential Furnaces and...

    Science.gov (United States)

    2011-06-27

    ...-0121. Telephone: (202) 586-7892 or (202) 586-7335. E-mail: Mohammed.Khan@ee.doe.gov or Wes.Anderson@ee....Edwards@ee.doe.gov . FOR FURTHER INFORMATION CONTACT: Mr. Mohammed Khan (furnaces) or Mr. Wesley...

  5. Binge Drinking

    Medline Plus

    Full Text Available ... Antivirals (:60) Wes Studi: Antivirals (:30) Why Flu Vaccination Matters Lifestyle Healthy Swimming Is No Accident No ... 22) Zika Virus Prevention for Puerto Rico (:30) Vaccination A Key Piece of the Puzzle: Vaccinations Adult ...

  6. Hand Hygiene Saves Lives

    Medline Plus

    Full Text Available ... Antivirals (:60) Wes Studi: Antivirals (:30) Why Flu Vaccination Matters Lifestyle Healthy Swimming Is No Accident No ... 22) Zika Virus Prevention for Puerto Rico (:30) Vaccination A Key Piece of the Puzzle: Vaccinations Adult ...

  7. Fighting the Flu

    Centers for Disease Control (CDC) Podcasts

    2011-03-08

    Wes Studi, Hollywood actor, urges Native peoples to know the facts about the flu.  Created: 3/8/2011 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 3/8/2011.

  8. Original Research Original Research

    African Journals Online (AJOL)

    User

    2013-03-28

    Mar 28, 2013 ... Evaluation of Soil Cations in Agricu in South Wes. Abdenna ... agricultural productivity are a key cause o .... nutrient cycling in agro ecosystems are affect tribution of ..... physicochemical properties of soils under dif ... livestock).

  9. Hand Hygiene Saves Lives

    Medline Plus

    Full Text Available ... Tricky Treats Hygiene Fight Germs. Wash Your Hands! Go with the Flow Hand Hygiene Saves Lives Wash ... Wes Studi: Signs (:30) Traveler’s Health Way to Go Way to Go: Many Healthy Returns (4:00) ...

  10. Binge Drinking

    Medline Plus

    Full Text Available ... Tricky Treats Hygiene Fight Germs. Wash Your Hands! Go with the Flow Hand Hygiene Saves Lives Wash ... Wes Studi: Signs (:30) Traveler’s Health Way to Go Way to Go: Many Healthy Returns (4:00) ...

  11. Binge Drinking

    Medline Plus

    Full Text Available ... Critical Saving Lives, Protecting People Environmental Health CDC Tracking Network Health Begins at Home Smoke-free Multiunit ... The Story of Folic Acid Fortification Through the Eyes of the Eagle Wes Studi: Don’t Get ...

  12. Hand Hygiene Saves Lives

    Medline Plus

    Full Text Available ... Critical Saving Lives, Protecting People Environmental Health CDC Tracking Network Health Begins at Home Smoke-free Multiunit ... The Story of Folic Acid Fortification Through the Eyes of the Eagle Wes Studi: Don’t Get ...

  13. book review:jiang yajun,world englishes:a metadisciplinary perspective

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    book reviewjiang yajun,world englishes:a metadisciplinary perspective.beijing:china social sciences prfess,2008.349pp.isbn-10:7500475799,isbn-13:9787500475798,paper cover.this book adopts the concept of paradigm from thomas kuhn to testify the world englishes (wes) research is a science under the applied linguistics,mainly focusing on the levels of the structure,the research method and the research topics in the wes disciplinary.

  14. Environmental Impact Research Program. Wooden Fences. Section 5.2.4. US Army Corps of Engineers Wildlife Resources Management Manual.

    Science.gov (United States)

    1986-07-01

    Saucier, WES, was Program Manager, EIRP. The report was edited by Ms. Jessica S. Ruff of the WES Publications and Graphic Arts Division (PGAD). Drawings...LIMITATIONS Vandalism of wooden fences can be a major problem. In campgrounds and picnic areas, fences are often cut for firewood. Wooden fences are also...easily defaced by graffiti , and fences near parking areas are subject to dam- age by motor vehicles. Fences should be located a sufficient distance away

  15. Hydraulic Model Investigation. Effects of Wave Action on a Hurricane Protection Structure for London Avenue Outfall Canal, Lake Pontchartrain New Orleans, Louisiana.

    Science.gov (United States)

    1987-08-01

    Information Technology Laboratory, WES. COL D. G. Lee, CE, was Commander and Director of WES during the prepara- tion and publication of the report. Dr... MOBL LANPOI Al NE CHADELEUR )$EN OORLEANS 1 I.’ 3* i-I T 0A’M x INOEX --. LI~iTS I I * AI Figure~~~~~~~ 2. LoainoWodnAeu ufl aaI 5I.N RT f~~~C wraft

  16. Book review:JIANG YAJUN,World Englishes:A Metadisciplinary Perspective%Book review :JIANG YAJUN, World Englishes: A Metadisciplinary Perspective

    Institute of Scientific and Technical Information of China (English)

    Xie Shaoliang

    2011-01-01

    Book reviewJIANG YAJUN,World Englishes:A Metadisciplinary Perspective.Beijing:China Social Sciences Prfess,2008.349pp.ISBN-10:7500475799,ISBN-13:9787500475798,paper cover.This book adopts the concept of paradigm from Thomas Kuhn to testify the World Englishes (Wes) research is a science under the applied linguistics,mainly focusing on the levels of the structure,the research method and the research topics in the WEs disciplinary.

  17. Developments in LARM2: A Longitudinal-Vertical, Time-Varying Hydrodynamic Reservoir Model.

    Science.gov (United States)

    1983-01-01

    other estuary studies. Other methods of formulation are considered in Chapter 4. Sensitivity Tests with WES GRH Flume LARM2 was applied to the WES...Generalized Reservoir Hydro- dynamics ( GRH ) flume in order to compare computed velocity and temperature fields with those observed during several experi...momentum balance. The GRH flume and experiment are described in Johnson (1981). Basically, the experiment consisted of an upstream release of ! "!,: 16.15*C

  18. Structural characterization of wax esters by electron ionization mass spectrometry[S

    Science.gov (United States)

    Urbanová, Klára; Vrkoslav, Vladimír; Valterová, Irena; Háková, Martina; Cvacˇka, Josef

    2012-01-01

    The interpretation of the electron ionization mass spectra of straight-chain and methyl-branched saturated and unsaturated wax esters (WEs) is discussed in this study based on the spectra of 154 standards. The most important fragments indicative of the structure of the acid and alcohol chains are identified and summarized for WEs with various number of double bonds in the chains. Briefly, most WEs provide acylium ions allowing structural characterization of the acid part, whereas the alcohol part gives corresponding alkyl radical cations. The elemental composition of selected important fragments is established from a high-resolution accurate mass analysis. The ion abundances are discussed with respect to the length and unsaturation of the aliphatic chains. The interpretation of the spectra of branched or unsaturated WEs requires the recognition of small but important peaks that are difficult to discern among the other fragments. We demonstrate that such fragments are easily detected in differential mass spectra. This approach requires spectra of WE standards (e.g., straight-chain analogs in the case of branched WEs) recorded under the same experimental conditions. The WEs mass spectral database provided in the supplemental data can be used as a reference for the analysis of the GC/EI-MS data. PMID:22058425

  19. Characterization of a Soil Metagenome-Derived Gene Encoding Wax Ester Synthase.

    Science.gov (United States)

    Kim, Nam Hee; Park, Ji-Hye; Chung, Eunsook; So, Hyun-Ah; Lee, Myung Hwan; Kim, Jin-Cheol; Hwang, Eul Chul; Lee, Seon-Woo

    2016-02-01

    A soil metagenome contains the genomes of all microbes included in a soil sample, including those that cannot be cultured. In this study, soil metagenome libraries were searched for microbial genes exhibiting lipolytic activity and those involved in potential lipid metabolism that could yield valuable products in microorganisms. One of the subclones derived from the original fosmid clone, pELP120, was selected for further analysis. A subclone spanning a 3.3 kb DNA fragment was found to encode for lipase/esterase and contained an additional partial open reading frame encoding a wax ester synthase (WES) motif. Consequently, both pELP120 and the full length of the gene potentially encoding WES were sequenced. To determine if the wes gene encoded a functioning WES protein that produced wax esters, gas chromatography-mass spectroscopy was conducted using ethyl acetate extract from an Escherichia coli strain that expressed the wes gene and was grown with hexadecanol. The ethyl acetate extract from this E. coli strain did indeed produce wax ester compounds of various carbon-chain lengths. DNA sequence analysis of the full-length gene revealed that the gene cluster may be derived from a member of Proteobacteria, whereas the clone does not contain any clear phylogenetic markers. These results suggest that the wes gene discovered in this study encodes a functional protein in E. coli and produces wax esters through a heterologous expression system.

  20. Clinical exome sequencing: results from 2819 samples reflecting 1000 families

    Science.gov (United States)

    Trujillano, Daniel; Bertoli-Avella, Aida M; Kumar Kandaswamy, Krishna; Weiss, Maximilian ER; Köster, Julia; Marais, Anett; Paknia, Omid; Schröder, Rolf; Garcia-Aznar, Jose Maria; Werber, Martin; Brandau, Oliver; Calvo del Castillo, Maria; Baldi, Caterina; Wessel, Karen; Kishore, Shivendra; Nahavandi, Nahid; Eyaid, Wafaa; Al Rifai, Muhammad Talal; Al-Rumayyan, Ahmed; Al-Twaijri, Waleed; Alothaim, Ali; Alhashem, Amal; Al-Sannaa, Nouriya; Al-Balwi, Mohammed; Alfadhel, Majid; Rolfs, Arndt; Abou Jamra, Rami

    2017-01-01

    We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified. WES enabled timely diagnosing of genetic diseases, validation of causality of specific genetic disorders of PTPN23, KCTD3, SCN3A, PPOX, FRMPD4, and SCN1B, and setting dual diagnoses by detecting two causative variants in distinct genes in the same patient. We observed a better diagnostic yield in consanguineous families, in severe and in syndromic phenotypes. Our results suggest that WES has a better yield in patients that present with several symptoms, rather than an isolated abnormality. We also validate the clinical benefit of WES as an effective diagnostic tool, particularly in nonspecific or heterogeneous phenotypes. We recommend WES as a first-line diagnostic in all cases without a clear differential diagnosis, to facilitate personal medical care. PMID:27848944

  1. Binding of Shewanella FadR to the fabA fatty acid biosynthetic gene: implications for contraction of the fad regulon.

    Science.gov (United States)

    Zhang, Huimin; Zheng, Beiwen; Gao, Rongsui; Feng, Youjun

    2015-09-01

    The Escherichia coli fadR protein product, a paradigm/prototypical FadR regulator, positively regulates fabA and fabB, the two critical genes for unsaturated fatty acid (UFA) biosynthesis. However the scenario in the other Ɣ-proteobacteria, such as Shewanella with the marine origin, is unusual in that Rodionov and coworkers predicted that only fabA (not fabB) has a binding site for FadR protein. It raised the possibility of fad regulon contraction. Here we report that this is the case. Sequence alignment of the FadR homologs revealed that the N-terminal DNA-binding domain exhibited remarkable similarity, whereas the ligand-accepting motif at C-terminus is relatively-less conserved. The FadR homologue of S. oneidensis (referred to FadR_she) was over-expressed and purified to homogeneity. Integrative evidence obtained by FPLC (fast protein liquid chromatography) and chemical cross-linking analyses elucidated that FadR_she protein can dimerize in solution, whose identity was determined by MALDI-TOF-MS. In vitro data from electrophoretic mobility shift assays suggested that FadR_she is almost functionally-exchangeable/equivalent to E. coli FadR (FadR_ec) in the ability of binding the E. coli fabA (and fabB) promoters. In an agreement with that of E. coli fabA, S. oneidensis fabA promoter bound both FadR_she and FadR_ec, and was disassociated specifically with the FadR regulatory protein upon the addition of long-chain acyl-CoA thioesters. To monitor in vivo effect exerted by FadR on Shewanella fabA expression, the native promoter of S. oneidensis fabA was fused to a LacZ reporter gene to engineer a chromosome fabA-lacZ transcriptional fusion in E. coli. As anticipated, the removal of fadR gene gave about 2-fold decrement of Shewanella fabA expression by β-gal activity, which is almost identical to the inhibitory level by the addition of oleate. Therefore, we concluded that fabA is contracted to be the only one member of fad regulon in the context of fatty acid

  2. An efficient extrapolation to the (T)/CBS limit

    Science.gov (United States)

    Ranasinghe, Duminda S.; Barnes, Ericka C.

    2014-05-01

    We extrapolate to the perturbative triples (T)/complete basis set (CBS) limit using double ζ basis sets without polarization functions (Wesleyan-1-Triples-2ζ or "Wes1T-2Z") and triple ζ basis sets with a single level of polarization functions (Wesleyan-1-Triples-3ζ or "Wes1T-3Z"). These basis sets were optimized for 102 species representing the first two rows of the Periodic Table. The species include the entire set of neutral atoms, positive and negative atomic ions, as well as several homonuclear diatomic molecules, hydrides, rare gas dimers, polar molecules, such as oxides and fluorides, and a few transition states. The extrapolated Wes1T-(2,3)Z triples energies agree with (T)/CBS benchmarks to within ±0.65 mEh, while the rms deviations of comparable model chemistries W1, CBS-APNO, and CBS-QB3 for the same test set are ±0.23 mEh, ±2.37 mEh, and ±5.80 mEh, respectively. The Wes1T-(2,3)Z triples calculation time for the largest hydrocarbon in the G2/97 test set, C6H5Me+, is reduced by a factor of 25 when compared to W1. The cost-effectiveness of the Wes1T-(2,3)Z extrapolation validates the usefulness of the Wes1T-2Z and Wes1T-3Z basis sets which are now available for a more efficient extrapolation of the (T) component of any composite model chemistry.

  3. An efficient extrapolation to the (T)/CBS limit.

    Science.gov (United States)

    Ranasinghe, Duminda S; Barnes, Ericka C

    2014-05-14

    We extrapolate to the perturbative triples (T)/complete basis set (CBS) limit using double ζ basis sets without polarization functions (Wesleyan-1-Triples-2ζ or "Wes1T-2Z") and triple ζ basis sets with a single level of polarization functions (Wesleyan-1-Triples-3ζ or "Wes1T-3Z"). These basis sets were optimized for 102 species representing the first two rows of the Periodic Table. The species include the entire set of neutral atoms, positive and negative atomic ions, as well as several homonuclear diatomic molecules, hydrides, rare gas dimers, polar molecules, such as oxides and fluorides, and a few transition states. The extrapolated Wes1T-(2,3)Z triples energies agree with (T)/CBS benchmarks to within ±0.65 mEh, while the rms deviations of comparable model chemistries W1, CBS-APNO, and CBS-QB3 for the same test set are ±0.23 mEh, ±2.37 mEh, and ±5.80 mEh, respectively. The Wes1T-(2,3)Z triples calculation time for the largest hydrocarbon in the G2/97 test set, C6H5Me(+), is reduced by a factor of 25 when compared to W1. The cost-effectiveness of the Wes1T-(2,3)Z extrapolation validates the usefulness of the Wes1T-2Z and Wes1T-3Z basis sets which are now available for a more efficient extrapolation of the (T) component of any composite model chemistry.

  4. An efficient extrapolation to the (T)/CBS limit

    Energy Technology Data Exchange (ETDEWEB)

    Ranasinghe, Duminda S. [Hall-Atwater Laboratories of Chemistry, Wesleyan University, Middletown, Connecticut 06459-0180 (United States); Barnes, Ericka C., E-mail: barnese8@southernct.edu [Department of Chemistry, Southern Connecticut State University, 501 Crescent Street, New Haven, Connecticut 06515-1355 (United States)

    2014-05-14

    We extrapolate to the perturbative triples (T)/complete basis set (CBS) limit using double ζ basis sets without polarization functions (Wesleyan-1-Triples-2ζ or “Wes1T-2Z”) and triple ζ basis sets with a single level of polarization functions (Wesleyan-1-Triples-3ζ or “Wes1T-3Z”). These basis sets were optimized for 102 species representing the first two rows of the Periodic Table. The species include the entire set of neutral atoms, positive and negative atomic ions, as well as several homonuclear diatomic molecules, hydrides, rare gas dimers, polar molecules, such as oxides and fluorides, and a few transition states. The extrapolated Wes1T-(2,3)Z triples energies agree with (T)/CBS benchmarks to within ±0.65 mE{sub h}, while the rms deviations of comparable model chemistries W1, CBS-APNO, and CBS-QB3 for the same test set are ±0.23 mE{sub h}, ±2.37 mE{sub h}, and ±5.80 mE{sub h}, respectively. The Wes1T-(2,3)Z triples calculation time for the largest hydrocarbon in the G2/97 test set, C{sub 6}H{sub 5}Me{sup +}, is reduced by a factor of 25 when compared to W1. The cost-effectiveness of the Wes1T-(2,3)Z extrapolation validates the usefulness of the Wes1T-2Z and Wes1T-3Z basis sets which are now available for a more efficient extrapolation of the (T) component of any composite model chemistry.

  5. Developing and Implementing "Waupaca Eating Smart": A Restaurant and Supermarket Intervention to Promote Healthy Eating Through Changes in the Food Environment.

    Science.gov (United States)

    Escaron, Anne L; Martinez-Donate, Ana P; Riggall, Ann Josie; Meinen, Amy; Hall, Beverly; Nieto, F Javier; Nitzke, Susan

    2016-03-01

    Restaurants and food stores are suitable settings for healthy eating interventions. A community-academic partnership developed and implemented "Waupaca Eating Smart" (WES), a healthy eating program in restaurants and supermarkets of a rural, Midwest community. Previous interventions targeted either restaurants or small food stores nearly all in urban areas. Intervention design and implementation is rarely documented, making replication difficult for interested researchers and communities. In this article, we report the activities we undertook to develop and implement WES. Working with a local nutrition and activity coalition, we used evidence-based strategies guided by the social ecological model and social marketing principles to inform the content of WES. Formative assessment included a review of the literature, statewide key informant interviews and focus groups with restaurant and food store operators and patrons, a local community survey, and interviews with prospective WES businesses. WES was implemented in seven restaurants and two supermarkets and evaluated for feasibility and acceptance using surveys and direct observation of WES implementation. Prior to this intervention, only one of seven restaurants had three or more meals that met WES nutrition criteria. By the end of the program, 38 meals were labeled and promoted to restaurant customers, and the team had staffed four side salad taste tests for supermarket customers. Four and 10 months after intervention launch, the majority of the program's strategies were observed in participating outlets, suggesting that these program's strategies are feasible and can be sustained. Operators reported strong satisfaction overall. A combined restaurant- and supermarket-based healthy eating intervention is feasible and positively valued in rural communities. Further research is needed to better understand how to foster sustainability of these interventions and their impact on customer food choices. © 2015 Society for

  6. Application of Op-amp Fixators in Analog Circuits

    Directory of Open Access Journals (Sweden)

    R. Rohith Krishnan

    2016-10-01

    Full Text Available Nullor elements have applications not only in analog behaviour modeling but also in analog circuit design and analysis. Fixator- orator pair, the emerging tool in analog design is a combination of a nullor and sources. A method for the realization of fixator- orator pair is discussed in this paper. Application of fixator-norator pair into a circuit makes it possible to perform the AC and DC designs in a linear like way. Fixator fixes a critical biasing spec at the design, whereas the pairing norator finds the value of power conducting components or DC sources that meets the design. A scaling amplifier design, an active load design and a CMOS differential amplifier design are provided as examples to demonstrate the procedure and the methodology.

  7. A KAS2 cDNA complements the phenotypes of the Arabidopsis fab1 mutant that differs in a single residue bordering the substrate binding pocket

    DEFF Research Database (Denmark)

    Carlsson, A.S.; LaBrie, S.T.; Kinney, A.J.;

    2002-01-01

    The fab1 mutant of Arabidopsis is partially deficient in activity of ß-ketoacyl-[acyl carrier protein] synthase II (KAS II). This defect results in increased levels of 16 : 0 fatty acid and is associated with damage and death of the mutants at low temperature. Transformation of fab1 plants with a c...... chain to bend. For functional analysis the equivalent Leu207Phe mutation was introduced into the fabB gene encoding the E. coli KAS I enzyme. Compared to wild-type, the Leu207Phe protein showed a 10-fold decrease in binding affinity for the fatty acid substrate, exhibited a modified behavior during size...

  8. Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

    Science.gov (United States)

    Steinberg-Shemer, Orna; Ulirsch, Jacob C; Noy-Lotan, Sharon; Krasnov, Tanya; Attias, Dina; Dgany, Orly; Laor, Ruth; Sankaran, Vijay G; Tamary, Hannah

    2017-06-30

    Whole exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a 20-year old man with a life-long moderate to severe anemia with accompanying splenomegaly who lacked a definitive diagnosis. After a thorough clinical workup and targeted genetic sequencing, we identified a paternally inherited β-globin mutation (HBB:c.93-21G>A, IVS-I-110:G>A), a known cause of β-thalassemia minor. As this mutation alone was inconsistent with the severity of the anemia, we performed WES. Although we could not identify any relevant pathogenic single nucleotide variants (SNVs) or small indels, copy number variant (CNV) analyses revealed a likely triplication of the entire α-globin cluster, which was subsequently confirmed by multiplex ligation dependent probe amplification. Treatment and follow-up was redefined according to the diagnosis of β-thalassemia intermedia resulting from a single β-thalassemia mutation in combination with an α-globin cluster triplication. Thus, we describe a case where the typical WES-based analysis of SNVs and small indels was unrevealing, but WES-based CNV analysis resulted in a definitive diagnosis that informed clinical decision-making. More generally, this case illustrates the value of performing CNV analysis when WES is otherwise unable to elucidate a clear genetic diagnosis. Cold Spring Harbor Laboratory Press.

  9. Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.

    Directory of Open Access Journals (Sweden)

    Kerstin Knies

    Full Text Available Fanconi anemia (FA is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestations and the diagnosis of FA is confirmed by the hypersensitivity of cells to DNA interstrand crosslinking agents. Customary molecular diagnostics has become increasingly cumbersome, time-consuming and expensive the more FA genes have been identified. We performed Whole Exome Sequencing (WES in four FA patients in order to investigate the potential of this method for FA genotyping. In search of an optimal WES methodology we explored different enrichment and sequencing techniques. In each case we were able to identify the pathogenic mutations so that WES provided both, complementation group assignment and mutation detection in a single approach. The mutations included homozygous and heterozygous single base pair substitutions and a two-base-pair duplication in FANCJ, -D1, or -D2. Different WES strategies had no critical influence on the individual outcome. However, database errors and in particular pseudogenes impose obstacles that may prevent correct data perception and interpretation, and thus cause pitfalls. With these difficulties in mind, our results show that WES is a valuable tool for the molecular diagnosis of FA and a sufficiently safe technique, capable of engaging increasingly in competition with classical genetic approaches.

  10. Esthetic outcome for maxillary anterior single implants assessed by different dental specialists

    Science.gov (United States)

    Al-Dosari, Abdullah; Al-Rowis, Ra'ed; Moslem, Feras; Alshehri, Fahad

    2016-01-01

    PURPOSE The aim of this study was to assess the esthetic outcome of maxillary anterior single implants by comparing the esthetic perception of dental professionals and patients. MATERIALS AND METHODS Twenty-three patients with single implants in the esthetic zone were enrolled in this study. Dentists of four different dental specialties (Three orthodontists, three oral surgeons, three prosthodontists, and three periodontists) evaluated the pink esthetic score (PES)/white esthetic score (WES) for 23 implant-supported single restorations. The satisfactions of the patients on the esthetic outcome of the treatment have been evaluated according to the visual analog scale (VAS). RESULTS The mean total PES/WES was 12.26 ± 4.76. The mean PES was 6.45 ± 2.78 and mean WES was 5.80 ± 2.82. There was a statistically significant difference among the different specialties for WES (P<.01) and Total PES/WES (P<.01). Prosthodontists were found to have assigned poorer ratings among the other specialties, while oral surgeons gave the higher ratings than periodontists, orthodontists, and prosthodontists. CONCLUSION Prosthodontists seemed to be stricter when assessing aesthetic outcome among other specialties. Moreover, a clear correlation existed between dentists' and patients' esthetic perception, thereby providing rationales for involving patients in the treatment plan to achieve higher levels of patient satisfaction. PMID:27826384

  11. Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.

    Science.gov (United States)

    Sener, Elif Funda; Canatan, Halit; Ozkul, Yusuf

    2016-05-01

    Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence is higher in male children than in female children. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous with differences from one patient to another. Genetics has a key role in the etiology of autism. Environmental factors are also interacting with the genetic profile and cause abnormal changes in neuronal development, brain growth, and functional connectivity. The term of exome represents less than 1% of the human genome, but contains 85% of known disease-causing variants. Whole-exome sequencing (WES) is an application of the next generation sequencing technology to determine the variations of all coding regions, or exons of known genes. For this reason, WES has been extensively used for clinical studies in the recent years. WES has achieved great success in the past years for identifying Mendelian disease genes. This review evaluates the potential of current findings in ASD for application in next generation sequencing technology, particularly WES. WES and whole-genome sequencing (WGS) approaches may lead to the discovery of underlying genetic factors for ASD and may thereby identify novel therapeutic targets for this disorder.

  12. Regulating whole exome sequencing as a diagnostic test.

    Science.gov (United States)

    Lapin, Valentina; Mighion, Lindsey C; da Silva, Cristina P; Cuperus, Ymkje; Bean, Lora J H; Hegde, Madhuri R

    2016-06-01

    In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical laboratories. This has led to increased presence in the diagnostic marketplace, increased consumer awareness, and the question has been raised by various stakeholders to whether there is sufficient stringent regulation of WES and other NGS-based tests. We discuss the various WES services currently available in the marketplace, current regulation of WES as a laboratory developed test, the proposed FDA involvement in its oversight as well as the response of various laboratory groups that provide these diagnostic services. Overall, a rigorous process oversight and assessment of inter-lab reproducibility is strongly warranted for WES as it is used as a diagnostic test, but regulation should be mindful of the excessive administrative burden on academic and smaller diagnostic laboratories.

  13. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

    Science.gov (United States)

    Tacik, Pawel; Guthrie, Kimberly J; Strongosky, Audrey J; Broderick, Daniel F; Riegert-Johnson, Douglas L; Tang, Sha; El-Khechen, Dima; Parker, Alexander S; Ross, Owen A; Wszolek, Zbigniew K

    2015-03-01

    Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders. Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  14. Bennett H. Young and the Rhetoric of Reconciliation

    OpenAIRE

    2015-01-01

    Serving twice as Commander-in-Chief of the United Confederate Veterans, and then holding the title of Honorary Commander-in-Chief for Life until his death in 1919, Bennett H. Young was an instrumental figure in expanding the Lost Cause memorialization movement by actively supporting monument projects, attending dedication events, and giving countless orations. Throughout these activities, Young's leadership and visibility vested him with a great deal of authority when it came to shaping the m...

  15. Some (semiotic) aspects of elocutio in Quintilian: more about Latinitas, Perspicuitas, Ornatus, and Decorum

    OpenAIRE

    2003-01-01

    In this study I deal with the conception of "elocutio" as described and explained in the "Institutio oratoria". My main point of view is the semiotic one, since the analysis of syntactic, semantic, and pragmatic aspects of this rhetorical operation in Quintilian’s work can provide us with a better knowledge of the process of micro-structural construction of rhetorical discourse in close connection with the general processes of textual construction and rhetorical communication between orators ...

  16. From Pericles to Plato

    DEFF Research Database (Denmark)

    Larsen, Øjvind

    2012-01-01

    Plato is normally taken as one of the founders of Western political philosophy, not at least with his Republic. Here, he constructs a hierarchy of forms of governments, beginning with aristocracy at the top as a critical standard for the other forms of governments, and proceeding through timocrac......’ funeral oration is used to show that Pericles presented a democratic political philosophy that can serve as a counterpoint to Plato’s political philosophy in the Republic....

  17. The Wholistic Ethical Litmus of Leadership: A Practical Non-Linear Dynamics and Chaos Based Leadership Model

    OpenAIRE

    2011-01-01

    Problem statement: Management is generally easy to define and measure. And, good managers tend to have many of the same characteristics and skill sets. Great leaders, on the other hand, have fewer shared characteristics. Some great leaders are great orators, for example, and yet many other great leaders are terrible public speakers. Great leaders tend to be very intuitive, but other characteristics consistent with great leadership are few indeed. So, the authors of this st...

  18. No More Vietnams: CORDS as a Model for Counterinsurgency Campaign Design

    Science.gov (United States)

    1991-04-12

    w.etslt. -Au wrlo U owC;ý=ftm (ho bu’". to Wasi-igloot tOay" aduan Swv i4n~c, Ottw~orate w tormst~l~nYto 0affat~oft and4 itfowt, I11 Al~fs a" OHIIJWI.$Mt...States develop a national counterinsurgency policy on the CORDS model. DOD would be the lead agent in its development, with DOS being a primary

  19. Design of a Condenser-Boiler for a Binary Mercury-Organic Rankine Cycle Solar Dynamic Space Power System

    Science.gov (United States)

    1987-05-15

    support the power needs of the space station. Competitive cycles considered have been Brayton, Rankine, and Stirling cycles powered with either nuclear or...at 644 OK, radiator at 350 OK, and pump and turbine efficiencies at 0.54 and 8.72, respectively. There are pressure losses of 10.7% in the regenerator ...10.4% in the "boiler", and 19% drop from turbine outlet to pump (including regenerator and RFMD). These figures represent the preliminary results

  20. De nuevo sobre los capítulos gramaticales de la Institutio oratoria de Quintiliano

    Directory of Open Access Journals (Sweden)

    Marina del Castillo Herrera

    2007-06-01

    Full Text Available Although defining the framework of Quintilian´s grammatical chapters may seem difficult, this can be done if not considering them from the point of view of late grammar, but as a part of a work about rhetoric. Reviewed in this way, the text is not merely an assemblage of different sources, included a possible ars grammatical, but the wide vision of grammar that the future orator must receive as part of his instruction.

  1. Analysis of Multiple Source Obscurants on the Realistic Battlefield (AMSORB). Volume 1. Mathematical Models and Computer Program Description

    Science.gov (United States)

    1982-05-01

    authorized documents. The citation of trade name. and names of manLfacturers in this report is not to be construed as official Government indorsement 4 or...ating the light which illuminatis it. For a target and background which are coincident , this is ntot a problem .rid a comparison of r;flectivities can...NBS Applied Mathematics, Series 55, U. S. Government Printing Office, 1046. Allen, G. and B. E. Simonson, 1970: Attenuation of infrared laser radia

  2. The Shipping Industry Perspective: Implementing the Strategy

    Science.gov (United States)

    2008-10-29

    orative software to fully capture industry perspectives and promote in-depth exploration. Representatives included fi rms involved in shipping, port...participants used a collaborative software tool called WebIQ© to enter ideas, comment on one another’s entries, and prioritize among alternatives...labor, and public disagreement over waterfront land use, such as the preference for residential condominiums over indus- trial facilities. One measure

  3. Department of the Navy Supporting Data for Fiscal Year 1984 Budget Estimates Descriptive Summaries Submitted to Congress January 1983. Research, Development, Test and Evaluation, Navy. Book 1. Technology Base, Advanced Technology Development, Strategic Programs.

    Science.gov (United States)

    1983-01-01

    mobilization planning. E. (U) FY 1983 PROGRAM: In ROBOTICS, mphasis Is on the mrging of the Computer-Aided Design and Computer-Aided Manufacturing (CAN...ocean and Arctic applications. Transition of the technologyy of the open ocean version to 6.2/6.3 has continued. Data has boen analyzed for sea tests of...improved readiness places a premium am capable And maintainable aircraft orating from highly mobile platform with constrained space and log it

  4. Determining Intra-Theater Airlift Requirements from Number of Personnel Deployed in a Region

    Science.gov (United States)

    2013-06-01

    As such, inconsistencies within the data set are a major problem. Every attempt has been made to discard entries that are beyond the capacity...failure as a function of stress, temperature , and some metallurgical variables representing the alloy’s composition. Obtaining estimates for...STRP OIBB BUSHE HR OMDB DUBAI INTL ORAT AL TAQADD UM AB ORTK TIKRIT EAST OE09 AL WADIA OIBK KISH ISLAND OMDM MINHAD AB ORB1

  5. Occupational exposure to solar ultraviolet radiation of Polish outdoor workers: risk estimation method and criterion.

    Science.gov (United States)

    Wolska, Agnieszka

    2013-01-01

    This paper presents occupational skin exposure to solar ultraviolet radiation (UVR) of 122 Polish outdoor workers in spring and summer. In 65% of the cases, it was significant and exceeded 10 standard erythema doses (SED) during a work shift. The results provided grounds for (a) modifying hazard assessment based on the skin exposure factor proposed by the International Commission on Non-Ionizing Radiation Protection (ICNIRP) and (b) developing a criterion of risk estimation. The modified method uses the UV index (UVI) instead of the geographical latitude and season factor. The skin exposure factor (Wes) of one is the criterion of risk estimation. Risk is low if the estimated value of Wes does not exceed one. If it does, suitable preventive measures are necessary and a corrected skin exposure factor (Wes *) is calculated to minimize its value to at least one. Risk estimated with that method was high in 67% of the cases.

  6. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

    Science.gov (United States)

    Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

    2014-09-01

    Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD.

  7. Numeric Modified Adomian Decomposition Method for Power System Simulations

    Energy Technology Data Exchange (ETDEWEB)

    Dimitrovski, Aleksandar D [ORNL; Simunovic, Srdjan [ORNL; Pannala, Sreekanth [ORNL

    2016-01-01

    This paper investigates the applicability of numeric Wazwaz El Sayed modified Adomian Decomposition Method (WES-ADM) for time domain simulation of power systems. WESADM is a numerical method based on a modified Adomian decomposition (ADM) technique. WES-ADM is a numerical approximation method for the solution of nonlinear ordinary differential equations. The non-linear terms in the differential equations are approximated using Adomian polynomials. In this paper WES-ADM is applied to time domain simulations of multimachine power systems. WECC 3-generator, 9-bus system and IEEE 10-generator, 39-bus system have been used to test the applicability of the approach. Several fault scenarios have been tested. It has been found that the proposed approach is faster than the trapezoidal method with comparable accuracy.

  8. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

    DEFF Research Database (Denmark)

    Pinheiro, Maísa; Drigo, Sandra Aparecida; Tonhosolo, Renata

    2017-01-01

    Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES...... familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes...

  9. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    DEFF Research Database (Denmark)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei

    2017-01-01

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186...... trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably...

  10. Alkaline water electrolysis technology for Space Station regenerative fuel cell energy storage

    Science.gov (United States)

    Schubert, F. H.; Hoberecht, M. A.; Le, M.

    1986-01-01

    The regenerative fuel cell system (RFCS), designed for application to the Space Station energy storage system, is based on state-of-the-art alkaline electrolyte technology and incorporates a dedicated fuel cell system (FCS) and water electrolysis subsystem (WES). In the present study, emphasis is placed on the WES portion of the RFCS. To ensure RFCS availability for the Space Station, the RFCS Space Station Prototype design was undertaken which included a 46-cell 0.93 cu m static feed water electrolysis module and three integrated mechanical components.

  11. Environmental and Water Quality Operational Studies. Physical Modeling of Reservoir Hydrodynamics.

    Science.gov (United States)

    1985-12-01

    reservoir flume (re- ferred to as the General Reservoir Hydrodynamic ( GRH ) Facility) located in the Hydraulics Laboratory of WES. In this case, the GRH was...their study. 49. GRH simulation. Data from the WES Generalized Reservoir Hydrodynamic ( GRH ) Facility was used as the prototype to make the second model...prototype comparison. The GRH is 80.0 ft long and 2.85 ft wide with a maximum depth of 3.0 ft. Details of the GRH are provided in Figure 6. 44 2.85 FT

  12. Interactions of Liquid Propellant/LP XM46 With Soils

    Science.gov (United States)

    1994-09-01

    nodulates Chinese milk vetch (Astragalus sinicus L.)," Soil Science and Plant Nutrition 36, 83-90. Yu, F. X. (1988). "Simulation of surface irrigation...and Picatinny B; while with Socorro P and WES Referencc, the ammonium ion increased. B4 Appondix B Ion Chroniatograohy of Liquid Propoliants /Soil

  13. Tjazhelovessõ Gollivuda v deistvii / Jevgeni Levik

    Index Scriptorium Estoniae

    Levik, Jevgeni

    2005-01-01

    Koguperefilm "Lemony Snicketi sari õnnetuid lugusid" ("Lemony Snicket's A Series of Unfortunate Events") : režissöör Brad Silberling : Ameerika Ühendriigid 2004 ja seikluslik komöödia "Steve Zissou ja veealune maailm" ("Life Aquatic with Steve Zissou") : režissöör Wes Anderson : Ameerika Ühendriigid 2004

  14. Neurotoxin Mitigation

    Science.gov (United States)

    2007-11-01

    methylglyoxal involved in ligand binding and esterase activity. J Biol Chem 280:5724-5732. Benschop HP and Keijer JH (1966) On the mechanism of ageing of...identiWes hotspot site of modiWcation in human serum albumin by methylglyoxal involved in ligand binding and esterase activity, J. Biol. Chem. 280 (2005

  15. Multi-Hazard Shelter Incentive Programs

    Science.gov (United States)

    1985-09-01

    electric operation, freight and tax (to resist 1.000 psi dynamic, to - 0.4 Assc.). A WES report 9 states that "Izisting comercially available doors...Stato Maggiore Disfesa Civile Almannavarnir Skirfstofa Centro Studi Difeoa Civile Reykjavik Rome ICELAND ITALY Civil Emergency Planning Directorate

  16. Advances in postharvest pest control on perishable commodities using ultralow oxygen treatment and low temperature phosphine funigation

    Science.gov (United States)

    Recent research in postharvest pest control on fresh fruits and vegetables for export to markets have resulted in promising ultralow oxygen (ULO) treatments and low temperature phosphine fumigation treatments for a variety of pests on different commodities. Lettuce aphid (Nasonovia ribisnigri), wes...

  17. Effectiveness of School-based Drug Prevention Programs for Marijuana Use.

    Science.gov (United States)

    Tobler, Nancy S.; Lessard, Terri; Marshall, Diana; Ochshorn, Peter; Roona, Michael

    1999-01-01

    Synthesizes evaluation of drug use programs (N=37) in schools for grades 6-12 by coding program characteristics and calculating weighted effect sizes (WES) for marijuana use. Program type and sample size were found to be significant predictors of program effectiveness. The primary finding for prevention program planning is that interactive…

  18. 32 CFR 555.2 - Applicability.

    Science.gov (United States)

    2010-07-01

    ... Experiment Station (WES), the U.S. Army Construction Engineering Research Laboratory (CERL), the U.S. Army Engineer Topographic Laboratories (ETL), the U.S. Army Coastal Engineering Research Center (CERC), the U.S. Army Cold Regions Research and Engineering Laboratory (CRREL), the U.S. Army Facilities...

  19. Our Cultures Are Our Source of Health

    Centers for Disease Control (CDC) Podcasts

    2013-03-04

    Wes Studi, Hollywood actor, highlights the wisdom of cultural knowledge to promote health and prevent type 2 diabetes.  Created: 3/4/2013 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 3/4/2013.

  20. Our Cultures Are Our Source of Health PSA (:60)

    Centers for Disease Control (CDC) Podcasts

    2013-03-04

    In this 60 second Public Service Announcement, Wes Studi, Hollywood actor, highlights the wisdom of cultural knowledge to promote health and prevent type 2 diabetes.  Created: 3/4/2013 by Centers for Disease Control and Prevention (CDC).   Date Released: 3/4/2013.

  1. Our Cultures Are Our Source of Health PSA (:30)

    Centers for Disease Control (CDC) Podcasts

    2013-03-04

    In this 30 second Public Service Announcement, Wes Studi, Hollywood actor, highlights the wisdom of cultural knowledge to promote health and prevent type 2 diabetes.  Created: 3/4/2013 by Centers for Disease Control and Prevention (CDC).   Date Released: 3/4/2013.

  2. Improving adult learning and professional development in a post-conflict are: The case of Cambodia

    NARCIS (Netherlands)

    Berkvens, J.; Kalyanpur, M.; Kuiper, W.; van den Akker, J.

    2012-01-01

    All over the world, international development organizations try to increase professional capacity of local staff. These attempts are thought to fail because of financial constraints, but this is just part of the story. Professional development and adult learning theories approach learning from a wes

  3. Improving adult learning and professional development in a post-conflict area: the case of Cambodia

    NARCIS (Netherlands)

    Berkvens, J.; Kalyanpur, M.; Kuiper, W.; Akker, van den J.

    2012-01-01

    All over the world, international development organizations try to increase professional capacity of local staff. These attempts are thought to fail because of financial constraints, but this is just part of the story. Professional development and adult learning theories approach learning from a wes

  4. Autonomous Robot Skill Acquisition

    Science.gov (United States)

    2011-05-01

    once a year: George, Lucy and Clara; Dyl; Andrea and Joanna; Gregor and Becky; Paul and Anjie; Asher ; Fisco; Piet, Wes, James and Blaski; Lauren and...J., Osentoski, S., Jay , G., and Jenkins, O. (2010). Learning from demonstration using a multi-valued function regressor for time-series data. In

  5. tern Kenya community

    African Journals Online (AJOL)

    Mother's health seeking behaviour during child illness in a rural wes- tern Kenya community ... The impact of illnesses on growth. Corresponding ... Cell Phone: 0733914682/ 0724231495 ... tive of the focus group discussions was to collect more informa- ... Relationships were drawn between maternal age, number of years.

  6. Drug resistance in colorectal cancer cell lines is partially associated with aneuploidy status in light of profiling gene expression

    DEFF Research Database (Denmark)

    Guo, Jiao; Xu, Shaohang; Huang, Xuanlin

    2016-01-01

    colorectal cancer cells, HCT116 and LoVo, were cultured with the chemotherapeutic drugs irinotecan (SN38) or oxaliplatin (QxPt), and the non- and drug-resistant cell lines were selected. Whole exome sequencing (WES) was employed to evaluate the aneuploidy status of these cells, and RNAseq and LC-MS/MS were...

  7. Whole exome sequencing reveals a mutation in an osteogenesis imperfecta patient

    Directory of Open Access Journals (Sweden)

    Mehmet Ali Ergun

    2017-02-01

    Full Text Available Osteogenesis imperfecta (OI is an autosomal dominant disorder characterized mainly by bone fragility and blue sclerae. OI is caused by mutations in type I collagen genes, COL1A1 and COL1A2. Dentinogenesis imperfecta is a common disorder for osteogenesis imperfecta patients. More than half of the OI patients have also dentinogenesis imperfecta. Whole exome sequencing (WES, involves exome capture, which limits sequencing of the protein coding regions of the genome, composed of about 20,000 genes, 180,000 exons, and constituting approximately 1% of the whole genome. A major indication for use is molecular diagnosis of patients with suspected genetic disorders or of patients with known genetic disorders with substantial genetic heterogeneity involving substantial gene complexity. In this study, we performed WES for a patient prediagnosed as Osteogenesis imperfecta. He had also dentinogenesis imperfecta. The WES results confirmed with Sanger sequencing revealed as a missense mutation at codon 560 of COL1A1 gene: c.1678G>A p.(Gly560Cys. The mutation was in exon 25 and according to the dbSNP database this mutation corresponded to rs67507747. As a conclusion, it is very important to perform WES after an algorithm. This algorithm has to include, a suspect of a mendelian disorder, multiple genetic conditions in the differential diagnosis, and even if it is available the conventional diagnosis is prohibitively expensive. Finally, Sanger sequencing in order to confirm the results is also advised.

  8. Large-scale Direct Targeting for Drug Repositioning and Discovery

    Science.gov (United States)

    Zheng, Chunli; Guo, Zihu; Huang, Chao; Wu, Ziyin; Li, Yan; Chen, Xuetong; Fu, Yingxue; Ru, Jinlong; Ali Shar, Piar; Wang, Yuan; Wang, Yonghua

    2015-01-01

    A system-level identification of drug-target direct interactions is vital to drug repositioning and discovery. However, the biological means on a large scale remains challenging and expensive even nowadays. The available computational models mainly focus on predicting indirect interactions or direct interactions on a small scale. To address these problems, in this work, a novel algorithm termed weighted ensemble similarity (WES) has been developed to identify drug direct targets based on a large-scale of 98,327 drug-target relationships. WES includes: (1) identifying the key ligand structural features that are highly-related to the pharmacological properties in a framework of ensemble; (2) determining a drug’s affiliation of a target by evaluation of the overall similarity (ensemble) rather than a single ligand judgment; and (3) integrating the standardized ensemble similarities (Z score) by Bayesian network and multi-variate kernel approach to make predictions. All these lead WES to predict drug direct targets with external and experimental test accuracies of 70% and 71%, respectively. This shows that the WES method provides a potential in silico model for drug repositioning and discovery. PMID:26155766

  9. Prototype Environmental Digital Data for Materiel Design, Testing, and Evaluation

    Science.gov (United States)

    1990-10-01

    Dornbusch 1987). These factors were set in map format, digitized, and gridded at a 30-m resolu- tion using standard WES software. 13. Soil types. Soil... Dornbusch , William K. 1987. "Development of Terrain Products," STC Report 2224, Science and Technology Corporation, Hampton, VA. Hutto, Thomas D., and

  10. 32 CFR 555.6 - Authority.

    Science.gov (United States)

    2010-07-01

    ... appendix A. (6) The Director of WES is authorized to perform sampling and testing of cement and pozzolan... prior to performance of sampling and testing of cement and pozzolan for private firms and foreign... exceeding $20,000 (excluding cement sampling and testing work covered in § 555.6(a)(5) herein)....

  11. Scientific Visualization: The Modern Oscilloscope for "Seeing the Unseeable" (LBNL Summer Lecture Series)

    Energy Technology Data Exchange (ETDEWEB)

    Bethel, E Wes

    2008-06-24

    Summer Lecture Series 2008: Scientific visualization transforms abstract data into readily comprehensible images, provide a vehicle for "seeing the unseeable," and play a central role in both experimental and computational sciences. Wes Bethel, who heads the Scientific Visualization Group in the Computational Research Division, presents an overview of visualization and computer graphics, current research challenges, and future directions for the field.

  12. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

    NARCIS (Netherlands)

    I. Jansen (Iris); Ye, H. (Hui); Heetveld, S. (Sasja); Lechler, M.C. (Marie C.); Michels, H. (Helen); Seinstra, R.I. (Renée I.); Lubbe, S.J. (Steven J.); Drouet, V. (Valérie); S. Lesage (Suzanne); E. Majounie (Elisa); Gibbs, J.R. (J.Raphael); M.A. Nalls (Michael); M. Ryten (Mina); Botia, J.A. (Juan A.); J. Vandrovcova (Jana); J. Simón-Sánchez (Javier); Castillo-Lizardo, M. (Melissa); P. Rizzu (Patrizia); Blauwendraat, C. (Cornelis); Chouhan, A.K. (Amit K.); Li, Y. (Yarong); Yogi, P. (Puja); N. Amin (Najaf); C.M. van Duijn (Cock); Morris, H.R. (Huw R.); Brice, A. (Alexis); A. Singleton (Andrew); David, D.C. (Della C.); Nollen, E.A. (Ellen A.); A. Jain (Ashok); J.M. Shulman; P. Heutink (Peter); D.G. Hernandez (Dena); S. Arepalli (Sampath); J. Brooks (Janet); Price, R. (Ryan); Nicolas, A. (Aude); S. Chong (Sean); M.R. Cookson (Mark); A. Dillman (Allissa); M. Moore (Matt); B.J. Traynor (Bryan); A. Singleton (Andrew); V. Plagnol (Vincent); Nicholas W Wood,; U.-M. Sheerin (Una-Marie); Jose M Bras,; K. Charlesworth (Kate); M. Gardner (Mac); R. Guerreiro (Rita); D. Trabzuni (Danyah); Hardy, J. (John); M. Sharma; M. Saad (Mohamad); Javier Simón-Sánchez,; C. Schulte (Claudia); J.C. Corvol (Jean-Christophe); Dürr, A. (Alexandra); M. Vidailhet (M.); S. Sveinbjörnsdóttir (Sigurlaug); R.A. Barker (Roger); Caroline H Williams-Gray,; Y. Ben-Shlomo; H.W. Berendse (Henk W.); K.D. van Dijk (Karin); D. Berg (Daniela); K. Brockmann; K.D. Wurster (Kathrin); Mätzler, W. (Walter); Gasser, T. (Thomas); M. Martinez (Maria); R.M.A. de Bie (Rob); A. Biffi (Alessandro); D. Velseboer (Daan); B.R. Bloem (Bastiaan); B. Post (Bart); M. Wickremaratchi (Mirdhu); B. van de Warrenburg (Bart); Z. Bochdanovits (Zoltan); M. von Bonin (Malte); H. Pétursson (Hjörvar); O. Riess (Olaf); D.J. Burn (David); Lubbe, S. (Steven); Cooper, J.M. (J Mark); N.H. McNeill (Nathan); Schapira, A. (Anthony); Lungu, C. (Codrin); Chen, H. (Honglei); Dong, J. (Jing); Chinnery, P.F. (Patrick F.); G. Hudson (Gavin); Clarke, C.E. (Carl E.); C. Moorby (Catriona); C. Counsell (Carl); P. Damier (Philippe); J.-F. Dartigues; P. Deloukas (Panagiotis); E. Gray (Emma); T. Edkins (Ted); Hunt, S.E. (Sarah E.); S.C. Potter (Simon); A. Tashakkori-Ghanbaria (Avazeh); G. Deuschl (Günther); D. Lorenz (Delia); D.T. Dexter (David); F. Durif (Frank); J. Evans (Jonathan Mark); Langford, C. (Cordelia); T. Foltynie (Thomas); A.M. Goate (Alison); C. Harris (Clare); J.J. van Hilten (Jacobus); A. Hofman (Albert); J.R. Hollenbeck (John R.); J.L. Holton (Janice); Hu, M. (Michele); X. Huang (Xiaohong); Illig, T. (Thomas); P.V. Jónsson (Pálmi); J.-C. Lambert; S.S. O'Sullivan (Sean); T. Revesz (Tamas); K. Shaw (Karen); A.J. Lees (Andrew); P. Lichtner (Peter); P. Limousin (Patricia); G. Lopez; Escott-Price, V. (Valentina); J. Pearson (Justin); N. Williams (Nigel); E. Mudanohwo (Ese); J.S. Perlmutter (Joel); Pollak, P. (Pierre); F. Rivadeneira Ramirez (Fernando); A.G. Uitterlinden (André); S.J. Sawcer (Stephen); H. Scheffer (Hans); I. Shoulson (Ira); L. Shulman (Lee); Smith, C. (Colin); R. Walker (Robert); C.C.A. Spencer (Chris C.); A. Strange (Amy); H. Stefansson (Hreinn); F. Bettella (Francesco); J-A. Zwart (John-Anker); Stockton, J.D. (Joanna D.); D. Talbot; C.M. Tanner (Carlie); F. Tison (François); S. Winder-Rhodes (Sophie); K.P. Bhatia (Kailash)

    2017-01-01

    textabstractBackground: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we perform

  13. Rapid Development of Microbial Strains for Bioremediation of Military Soils and Dredged Materials Contaminated with Polycyclic Aromatic Hydrocarbons.

    Science.gov (United States)

    1993-09-01

    the Ninth Avenue Superfund site in Gary , IN. The samples were mixed in 55-gal’ drums and redispensed into 5-gal buckets for shipment to WES at ambient...M., King, J. M. H., and Sayler , G. S. (1993). "Plasmid-mediated mineralization of naphthalene, phenanthrene, and anthra- cene," Applied and

  14. A boundary-Fitted Coordinate Code for General Two-Dimensional Regions with Obstacles and Boundary Intrusions.

    Science.gov (United States)

    1983-03-01

    Harrison was Chief, EL. Commanders and Directors of WES during this effort were COL John L. Cannon , CE, COL Nelson P. Conover, CE, and COL Tilford C. Creel...nonlinear difference equations, two for each point, is solved by accelerated Gauss -Seidel (SOR) iteration using overrelaxation. 19 J MAX REENTRANT

  15. Regulation of the expression of key genes involved in HDL metabolism by unsaturated fatty acids

    Science.gov (United States)

    The aim of this study was to determine the effects, and possible mechanisms of action, of unsaturated fatty acids on the expression of genes involved in HDL metabolism in HepG2 cells. The mRNA concentration of target genes was assessed by real time PCR. Protein concentrations were determined by wes...

  16. Java project on periodontal diseases. The natural development of periodontitis: risk factors, risk predictors and risk determinants : risk factors, risk predictors and risk determinants

    NARCIS (Netherlands)

    Van der Velden, U.; Abbas, F.; Armand, S.; Loos, B. G.; Timmerman, M. F.; Van der Weijden, G. A.; Van Winkelhoff, A. J.; Winkel, E. G.

    2006-01-01

    Objective: To identify risk factors, risk predictors and risk determinants for onset and progression of periodontitis. Material and Methods: For this longitudinal, prospective study all subjects in the age range 15-25 years living in a village of approximately 2000 inhabitants at a tea estate on Wes

  17. Java project on periodontal diseases. The natural development of periodontitis : risk factors, risk predictors and risk determinants

    NARCIS (Netherlands)

    Van der Velden, U.; Abbas, F.; Armand, S.; Loos, B. G.; Timmerman, M. F.; Van der Weijden, G. A.; Van Winkelhoff, A. J.; Winkel, E. G.

    2006-01-01

    Objective: To identify risk factors, risk predictors and risk determinants for onset and progression of periodontitis. Material and Methods: For this longitudinal, prospective study all subjects in the age range 15-25 years living in a village of approximately 2000 inhabitants at a tea estate on Wes

  18. Current Perspectives on Teaching World Englishes and English as a Lingua Franca

    Science.gov (United States)

    Jenkins, Jennifer

    2006-01-01

    The purpose of this article is to explore recent research into World Englishes (henceforth WEs) and English as a Lingua Franca (ELF), focusing on its implications for TESOL, and the extent to which it is being taken into account by English language teachers, linguists, and second language acquisition researchers. After a brief introduction…

  19. Deciduous Forest Scene Complexity in High-Resolution Multispectral Scanner Imagery.

    Science.gov (United States)

    1992-08-01

    Baldocchi, and Mr. Russel Martin of the Atmo- spheric Turbulence and Diffusion Division, Environmental Research Labora- tories, National Atmospheric and... Keown , Chief, Environmental Constraints Group (ECG), EL. At the time of publication of this report, Director of WES was Dr. Robert W. Whalin

  20. The Air Land Sea Bulletin. Issue No. 2003-1, March 2003

    Science.gov (United States)

    2003-03-01

    side well, a big salute to RADM Bert Calland, Army Colonel John Mulholland, Navy Captain Bob Harward, and Air Force Colonel Frank Kisner , for their...Col Bob Holmes (SOCOM), USAF Col Frank Kisner (16th SOW), USAF Col Mike Longoria (18 ASOG), USA COL (ret) Don Richardson, USA LTC Wes Rehorn, and Lt

  1. Uncertainty Analysis for DAM Projects.

    Science.gov (United States)

    1987-09-01

    Director of WES during the publication of this report. Dr. Robert W. Whalin was Technical Director. CONTENTS PREFACE , o...It 20 is 1 13 ft Bliows Per Foo Blows Per Fool Solows Por Fool Boring SS-53-66 Boring SS-52-66 Boring SS-51-66 Fiur 29c Reuto atr eonto xeiet 7-139

  2. Fighting Flu PSA (:30)

    Centers for Disease Control (CDC) Podcasts

    2011-02-15

    Wes Studi, Hollywood actor, urges American Indians and Alaska Natives to get vaccinated against seasonal flu.  Created: 2/15/2011 by National Center for Immunization and Respiratory Diseases.   Date Released: 2/15/2011.

  3. Fighting Flu PSA (:60)

    Centers for Disease Control (CDC) Podcasts

    2011-02-15

    Wes Studi, Hollywood actor, urges American Indians and Alaska Natives to get vaccinated against seasonal flu.  Created: 2/15/2011 by National Center for Immunization and Respiratory Diseases.   Date Released: 2/15/2011.

  4. Rimeigi rimeigi rimeik / Alar Niineväli

    Index Scriptorium Estoniae

    Niineväli, Alar

    2009-01-01

    USA 2009.a. õudusfilmist "Viimane maja vasakul" ("The Last House on the Left"), režissöör Dennis Iliadis. Filmi on vaadatud kui uusversiooni Wes Craveni samanimelisest 1972.a. filmist, mis omakorda on lähtunud Ingmar Bergmani 1960.a. filmist "Neitsiallikas" ("Jungfrukällan")

  5. Analysis of wax esters by silver-ion high-performance liquid chromatography-tandem mass spectrometry.

    Science.gov (United States)

    Vrkoslav, Vladimír; Urbanová, Klára; Háková, Matina; Cvačka, Josef

    2013-08-01

    Wax esters (WEs), esters of long-chain fatty acids and long-chain alcohols, were analysed by Ag-HPLC/APCI-MS/MS. Two ChromSpher Lipids columns connected in series (a total length of 50cm) and hexane-2-propanol-acetonitrile mobile phases were used to achieve good separation of the molecular species. The chromatographic behaviour of WEs was studied under optimised conditions: retention increased with the number of double bonds and with the temperature (15-35°C); retention times were affected by the double-bond position, trans isomers eluted earlier than cis isomers, and the WEs were partially separated depending on the aliphatic-chain length. The WEs provided simple APCI spectra with [M+H](+) ions, the MS/MS spectra showed fragments, which allowed their identification. The method was applied for an analysis of the WE mixtures from jojoba oil and human hair and the results were compared with analogous data from an optimised RP-HPLC system.

  6. Hope for healing: the mobilization of interest in three types of religious healing in the Netherlands since 1850

    NARCIS (Netherlands)

    Vellenga, S.J.

    2008-01-01

    The author examines the development of the popularity of religious healing in the Netherlands since 1850 and the factors that contribute to its continuation. He focuses upon three traditions: devotional healing in Roman Catholicism, charismatic healing in Pentecostalism and paranormal healing in wes

  7. New method for characterizing electron mediators in microbial systems using a thin-layer twin-working electrode cell.

    Science.gov (United States)

    Hassan, Md Mahamudul; Cheng, Ka Yu; Ho, Goen; Cord-Ruwisch, Ralf

    2017-01-15

    Microbial biofilms are significant ecosystems where the existence of redox gradients drive electron transfer often via soluble electron mediators. This study describes the use of two interfacing working electrodes (WEs) to simulate redox gradients within close proximity (250µm) for the detection and quantification of electron mediators. By using a common counter and reference electrode, the potentials of the two WEs were independently controlled to maintain a suitable "voltage window", which enabled simultaneous oxidation and reduction of electron mediators as evidenced by the concurrent anodic and cathodic currents, respectively. To validate the method, the electrochemical properties of different mediators (hexacyanoferrate, HCF, riboflavin, RF) were characterized by stepwise shifting the "voltage window" (ranging between 25 and 200mV) within a range of potentials after steady equilibrium current of both WEs was established. The resulting differences in electrical currents between the two WEs were recorded across a defined potential spectrum (between -1V and +0.5V vs. Ag/AgCl). Results indicated that the technique enabled identification (by the distinct peak locations at the potential scale) and quantification (by the peak of current) of the mediators for individual species as well as in an aqueous mixture. It enabled a precise determination of mid-potentials of the externally added mediators (HCF, RF) and mediators produced by pyocyanin-producing Pseudomonas aeruginosa (WACC 91) culture. The twin working electrode described is particularly suitable for studying mediator-dependent microbial electron transfer processes or simulating redox gradients as they exist in microbial biofilms.

  8. Rimeigi rimeigi rimeik / Alar Niineväli

    Index Scriptorium Estoniae

    Niineväli, Alar

    2009-01-01

    USA 2009.a. õudusfilmist "Viimane maja vasakul" ("The Last House on the Left"), režissöör Dennis Iliadis. Filmi on vaadatud kui uusversiooni Wes Craveni samanimelisest 1972.a. filmist, mis omakorda on lähtunud Ingmar Bergmani 1960.a. filmist "Neitsiallikas" ("Jungfrukällan")

  9. Field Verification Program, Coastal Flooding and Storm Protection Program. Preliminary User’s Manual 3-D Mathematical Model of Coastal, Estuarine, and Lake Currents (CELC3D).

    Science.gov (United States)

    1984-04-01

    on any other virtual machine, e.g., the CDC cyber 203, or .other non-virtual machine with sufficient memory. The CELC3D program solves the mean...Princeton, NJ, 287 pp; also WES Technical Report (in Press), U.S. Army Eng. Waterways Experiment Station, - Vicksburg, MS. " Sheng, Y.P., H. Segur , and W.S

  10. Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy

    Directory of Open Access Journals (Sweden)

    Degui eZhi

    2012-05-01

    Full Text Available Rationale: Left ventricular hypertrophy (LVH is a heritable predictor of cardiovascular disease, particularly in blacks. Objective: Determine the feasibility of combining evidence from two distinct but complimentary experimental approaches to identify novel genetic predictors of increased LV mass . Methods: Whole exome sequencing (WES was conducted in 7 African American sibling trios ascertained on high average familial LV mass indexed to height (LVMHT. WES identified 31,426 missense or nonsense mutations (MS/NS which were examined for association with LVMHT using linear mixed models adjusted for age, sex, body weight, and family relationship. To functionally assess WES findings, human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM were stimulated to induce hypertrophy; mRNA sequencing was used to determine expression differences associated with hypertrophy onset. Results: After correction for multiple testing, 295 MS/NS variants in 265 genes were associated with LVMHT. We identified 44 of 265 WES genes differentially expressed (P<0.05 in hypertrophied cells. To further prioritize these 44 candidates, 7 supportive statistical and annotation-based criteria were used to evaluate the relevance of these genes. Five genes, HLA-B, HTT, MTSS1, SLC5A12, THBS1, were each supported by 3 criteria. THBS1 encodes an adhesive glycoprotein that promotes matrix preservation in pressure-overload LVH and harbors conserved and predicted damaging variants. Conclusions: Combining evidence from cutting-edge genetic and cellular experiments can enable identification of novel LVH risk loci.

  11. Reconnaissance Report, Section 205 Chattooga River Trion, Georgia, Chattooga County

    Science.gov (United States)

    1991-07-01

    Institute of Technology ), and Dr. Gonzalo Castro (Geotechnical Engineers, Inc.). At the time of publication of this report, Director of WES was Dr...PLATE 4 *N Scale Statute Miles 0 5 1/ & W~15 Chtog ContrMa U.S ARMYEGINEE ITICMBL CORS O EINRS/ MOBLE ALABAMAm ’:tLAT 565 APPENDIX A COST FOR PLAN 7 0

  12. Maailmamajanduse konjunktuur : 2007. a. IV kv.-2008. a. I kv. / B. Pulver

    Index Scriptorium Estoniae

    Pulver, B.

    2007-01-01

    Lühiülevaade maailmamajanduse konjunktuurist 2007. aasta IV kvartalis, koostatud Müncheni Majandusuuringute Instituudi väljaande World Economic Survey (WES) nr. 98 alusel. Tabelid: Ekspertide hinnangud 2007. a. oktoobris; Prognoosid 2008; Konjunktuuribaromeetrite kindlustunde indikaatorid Euroopa Liidu maades

  13. Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway

    Science.gov (United States)

    van der Merwe, Nicole; Peeters, Armand V.; Pienaar, Fredrieka M.; Bezuidenhout, Juanita; van Rensburg, Susan J.; Kotze, Maritha J.

    2017-01-01

    Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer ( 5%) in the folate pathway in all three affected family members is consistent with inheritance of the luminal-type breast cancer in the family. PSGT assisted with the decision to pursue extended genetic testing and facilitated clinical interpretation of WES aimed at reduction of recurrence risk. PMID:28241424

  14. Laboratory Investigation and Analysis of the Strength and Deformation of Joints and Fluid Flow in Salem Limestone

    Science.gov (United States)

    1994-06-01

    profiles ................. 19 3-7 Comparison of the average FFT amplitudes of ten profiles each on a tonsile fracture joint and a synthetic joint...was originally purchased by ARA for the US Army Engineer Waterways Experiment Station (WES) from the Elliot Stone Company in Bedford, Indiana. The

  15. GH3-mediated auxin homeostasis links growth regulation with stress adaptation response in Arabidopsis.

    Science.gov (United States)

    Park, Jung-Eun; Park, Ju-Young; Kim, Youn-Sung; Staswick, Paul E; Jeon, Jin; Yun, Ju; Kim, Sun-Young; Kim, Jungmook; Lee, Yong-Hwan; Park, Chung-Mo

    2007-03-30

    Plants constantly monitor environmental fluctuations to optimize their growth and metabolism. One example is adaptive growth occurring in response to biotic and abiotic stresses. Here, we demonstrate that GH3-mediated auxin homeostasis is an essential constituent of the complex network of auxin actions that regulates stress adaptation responses in Arabidopsis. Endogenous auxin pool is regulated, at least in part, through negative feedback by a group of auxin-inducible GH3 genes encoding auxin-conjugating enzymes. An Arabidopsis mutant, wes1-D, in which a GH3 gene WES1 is activated by nearby insertion of the (35)S enhancer, exhibited auxin-deficient traits, including reduced growth and altered leaf shape. Interestingly, WES1 is also induced by various stress conditions as well as by salicylic acid and abscisic acid. Accordingly, wes1-D was resistant to both biotic and abiotic stresses, and stress-responsive genes, such as pathogenesis-related genes and CBF genes, were upregulated in this mutant. In contrast, a T-DNA insertional mutant showed reduced stress resistance. We therefore propose that GH3-mediated growth suppression directs reallocation of metabolic resources to resistance establishment and represents the fitness costs of induced resistance.

  16. 76 FR 51358 - National Nuclear Security Administration Amended Record of Decision: Disposition of Surplus...

    Science.gov (United States)

    2011-08-18

    ... awarded the contract for down-blending to a team consisting of WesDyne International (a subsidiary of... associated with managing the fuel for the purposes of stabilization, facility cleanup, treatment, waste... factors such as normal population fluctuations among work forces and in communities near the...

  17. Definition of mutations in polyautoimmunity.

    Science.gov (United States)

    Johar, Angad; Sarmiento-Monroy, Juan C; Rojas-Villarraga, Adriana; Silva-Lara, Maria F; Patel, Hardip R; Mantilla, Ruben D; Velez, Jorge I; Schulte, Klaus-Martin; Mastronardi, Claudio; Arcos-Burgos, Mauricio; Anaya, Juan-Manuel

    2016-08-01

    Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants. The primary objective of this study was to identify potentially autoimmune causative variants using WES data from extreme pedigrees segregating polyautoimmunity phenotypes. DNA of 47 individuals across 10 extreme pedigrees, ascertained from probands affected with polyautoimmunity and familial autoimmunity, were selected for WES. Variant calls were obtained through Genome Analysis Toolkit. Filtration and prioritization framework to identify mutation(s) were applied, and later implemented for genetic linkage analysis. Sanger sequencing corroborated variants with significant linkage. Novel and mostly rare variants harbored in SRA1, MLL4, ABCB8, DHX34 and PLAUR showed significant linkage (LOD scores are >3.0). The strongest signal was in SRA1, with a LOD score of 5.48. Network analyses indicated that SRA1, PLAUR and ABCB8 contribute to regulation of apoptotic processes. Novel and rare variants in genetic linkage with polyautoimmunity were identified throughout WES. Genes harboring these variants might be major players of autoimmunity. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Water Quality Outlet Works Prototype Tests, Warm Springs Dam Dry Creek, Russian River Basin Sonoma County, California

    Science.gov (United States)

    1989-03-01

    kips (force) per 6.894757 megapascals square inch microinches per inch 0.00001 millimetres per centimetre miles (US statute) 1.609347 kilometres pounds...used for recording the data: 13 a. WES-fabricated bridge amplifiers for instrument output signal- conditioning. b. A Thorn -EMI model SE7000, 32-track

  19. DEMONSTRATION BULLETIN: SITE CHARACTERIZATION ANALYSIS PENETROMETER SYSTEM (SCAPS) LIF SENSOR - U.S. ARMY, NAVY, AND AIR FORCE (TRI-SERVICES)

    Science.gov (United States)

    The Tri-Services Site Characterization Analysis Penetrometer System (SCAPS) was developed by the U.S. Army (U.S. Army Corps of Engineers, Waterways Experiment Station [WES] and the Army Environmental Center [AEC]), Navy (Naval Command, Control and Ocean Surveillance Center), and ...

  20. A glycogene mutation map for discovery of diseases of glycosylation

    DEFF Research Database (Denmark)

    Hansen, Lars; Lind-Thomsen, Allan; Joshi, Hiren J;

    2015-01-01

    homologous families. However, Genome-Wide-Association Studies (GWAS) have identified such isoenzyme genes as candidates for different diseases, but validation is not straightforward without biomarkers. Large-scale whole exome sequencing (WES) provides access to mutations in e.g. glycosyltransferase genes...

  1. Correlations of clinical assessment tools with written examinations.

    Science.gov (United States)

    Choi, Eun Jeong; Sunwoo, Sung

    2009-03-01

    Despite the goal of medical education, which is 'training to be a primary care physician,' only written examinations (WEs) generally have been used to assess medical student ability. We assessed clinical competence using the CPX (clinical performance examination), PA (portfolio assessment), VMA (video-monitoring assessment), CGD (case group discussion), and PCP (primary clinical practice) during students' clerkships in family medicine and correlated these clinical assessment tools with WEs. Also, we correlated these tools with each other to determine the feasibility of each as a replacement of the other tools. Thirty-nine fourth year students at University of Ulsan College of Medicine took part in their clerkship in family medicine for 2 weeks during the first session of 2005. They took 1 CPX, 2 VMAs, 6 CGDs, and 2 PCPs and were required to submit their portfolios at the end of the clerkship. We evaluated the correlations of these tools and WEs by the overall scores of each class year and in each subject. The CPX, VMA, and PCP showed no significant correlation,while PA showed strong correlation with 4th year students' overall WEs. The CGD showed strong correlation with all overall scores and with almost all subjects. In addition, the PA correlated significantly with CGD. New clinical assessment tools, such as CPX, PA, and VMA, have no significant correlation with WE, even though these tools closely correspond with real clinical practice. Therefore, these tools should be considered as complementary instruments to better assess clinical competence.

  2. Tjazhelovessõ Gollivuda v deistvii / Jevgeni Levik

    Index Scriptorium Estoniae

    Levik, Jevgeni

    2005-01-01

    Koguperefilm "Lemony Snicketi sari õnnetuid lugusid" ("Lemony Snicket's A Series of Unfortunate Events") : režissöör Brad Silberling : Ameerika Ühendriigid 2004 ja seikluslik komöödia "Steve Zissou ja veealune maailm" ("Life Aquatic with Steve Zissou") : režissöör Wes Anderson : Ameerika Ühendriigid 2004

  3. Drug-adherence questionnaires not valid for patients taking blood-pressure-lowering drugs in a primary health care setting.

    NARCIS (Netherlands)

    Steeg, N. van de; Sielk, M.; Pentzek, M.; Bakx, C.; Altiner, A.

    2009-01-01

    PURPOSE: To validate two established questionnaires [Morisky and Medication Adherence Report Scale (MARS-5)] for the measurement of medical adherence of patients treated with antihypertensive drugs in primary care in Germany. SETTING: General practitioners (GPs) and their patients in North Rhine-Wes

  4. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

    NARCIS (Netherlands)

    I. Jansen (Iris); Ye, H. (Hui); Heetveld, S. (Sasja); Lechler, M.C. (Marie C.); Michels, H. (Helen); Seinstra, R.I. (Renée I.); Lubbe, S.J. (Steven J.); Drouet, V. (Valérie); S. Lesage (Suzanne); E. Majounie (Elisa); Gibbs, J.R. (J.Raphael); M.A. Nalls (Michael); M. Ryten (Mina); Botia, J.A. (Juan A.); J. Vandrovcova (Jana); J. Simón-Sánchez (Javier); Castillo-Lizardo, M. (Melissa); P. Rizzu (Patrizia); Blauwendraat, C. (Cornelis); Chouhan, A.K. (Amit K.); Li, Y. (Yarong); Yogi, P. (Puja); N. Amin (Najaf); C.M. van Duijn (Cock); Morris, H.R. (Huw R.); Brice, A. (Alexis); A. Singleton (Andrew); David, D.C. (Della C.); Nollen, E.A. (Ellen A.); A. Jain (Ashok); J.M. Shulman; P. Heutink (Peter); D.G. Hernandez (Dena); S. Arepalli (Sampath); J. Brooks (Janet); Price, R. (Ryan); Nicolas, A. (Aude); S. Chong (Sean); M.R. Cookson (Mark); A. Dillman (Allissa); M. Moore (Matt); B.J. Traynor (Bryan); A. Singleton (Andrew); V. Plagnol (Vincent); Nicholas W Wood,; U.-M. Sheerin (Una-Marie); Jose M Bras,; K. Charlesworth (Kate); M. Gardner (Mac); R. Guerreiro (Rita); D. Trabzuni (Danyah); Hardy, J. (John); M. Sharma; M. Saad (Mohamad); Javier Simón-Sánchez,; C. Schulte (Claudia); J.C. Corvol (Jean-Christophe); Dürr, A. (Alexandra); M. Vidailhet (M.); S. Sveinbjörnsdóttir (Sigurlaug); R.A. Barker (Roger); Caroline H Williams-Gray,; Y. Ben-Shlomo; H.W. Berendse (Henk W.); K.D. van Dijk (Karin); D. Berg (Daniela); K. Brockmann; K.D. Wurster (Kathrin); Mätzler, W. (Walter); Gasser, T. (Thomas); M. Martinez (Maria); R.M.A. de Bie (Rob); A. Biffi (Alessandro); D. Velseboer (Daan); B.R. Bloem (Bastiaan); B. Post (Bart); M. Wickremaratchi (Mirdhu); B. van de Warrenburg (Bart); Z. Bochdanovits (Zoltan); M. von Bonin (Malte); H. Pétursson (Hjörvar); O. Riess (Olaf); D.J. Burn (David); Lubbe, S. (Steven); Cooper, J.M. (J Mark); N.H. McNeill (Nathan); Schapira, A. (Anthony); Lungu, C. (Codrin); Chen, H. (Honglei); Dong, J. (Jing); Chinnery, P.F. (Patrick F.); G. Hudson (Gavin); Clarke, C.E. (Carl E.); C. Moorby (Catriona); C. Counsell (Carl); P. Damier (Philippe); J.-F. Dartigues; P. Deloukas (Panagiotis); E. Gray (Emma); T. Edkins (Ted); Hunt, S.E. (Sarah E.); S.C. Potter (Simon); A. Tashakkori-Ghanbaria (Avazeh); G. Deuschl (Günther); D. Lorenz (Delia); D.T. Dexter (David); F. Durif (Frank); J. Evans (Jonathan Mark); Langford, C. (Cordelia); T. Foltynie (Thomas); A.M. Goate (Alison); C. Harris (Clare); J.J. van Hilten (Jacobus); A. Hofman (Albert); J.R. Hollenbeck (John R.); J.L. Holton (Janice); Hu, M. (Michele); X. Huang (Xiaohong); Illig, T. (Thomas); P.V. Jónsson (Pálmi); J.-C. Lambert; S.S. O'Sullivan (Sean); T. Revesz (Tamas); K. Shaw (Karen); A.J. Lees (Andrew); P. Lichtner (Peter); P. Limousin (Patricia); G. Lopez; Escott-Price, V. (Valentina); J. Pearson (Justin); N. Williams (Nigel); E. Mudanohwo (Ese); J.S. Perlmutter (Joel); Pollak, P. (Pierre); F. Rivadeneira Ramirez (Fernando); A.G. Uitterlinden (André); S.J. Sawcer (Stephen); H. Scheffer (Hans); I. Shoulson (Ira); L. Shulman (Lee); Smith, C. (Colin); R. Walker (Robert); C.C.A. Spencer (Chris C.); A. Strange (Amy); H. Stefansson (Hreinn); F. Bettella (Francesco); J-A. Zwart (John-Anker); Stockton, J.D. (Joanna D.); D. Talbot; C.M. Tanner (Carlie); F. Tison (François); S. Winder-Rhodes (Sophie); K.P. Bhatia (Kailash)

    2017-01-01

    textabstractBackground: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we perform

  5. Contingency Airfield Construction: Mechanical Stabilization Using Monofilament and Fibrillated Fibers

    Science.gov (United States)

    1994-01-01

    geosynthetics in pavement design. Articles that provided "state-of-the-art" or otherwise noteworthy information were acqured by the WES library. The...Waterways Experiment Station, Vicksburg, MS. Dass, W. G. (1992). " Geosynthetics and fiber-reinforced materials for airfield pavements: a literature

  6. Going Native: Besnyö’s Zeelandish Girl and the Contact Zone of Dutch Photography

    NARCIS (Netherlands)

    Ensel, R.

    2014-01-01

    This paper introduces the concept of contact zone, as coined by Mary Louise Pratt, to explore the photographic representation of the supposed traditional Dutch population in the first half of the twentieth century. Startingpoint is a picture of a young girl that Eva Besnyö took in the village of Wes

  7. Archaeological Investigations at Site 45-DO-285, Chief Joseph Dam Project, Washington.

    Science.gov (United States)

    1984-01-01

    Inadequate for many tool types. In 1979, when the liThic analysis wes completed at 45-D0-285, opal was not classified as a separate material. However...reptiles and amphibians. Houghton Miffl In, Boston. Wilmsen, E.N. 1970 Lithic analysis and cultural Inference: a paleo-Indian case. University of

  8. Improved lower bounds on the ground-state entropy of the antiferromagnetic Potts model.

    Science.gov (United States)

    Chang, Shu-Chiuan; Shrock, Robert

    2015-05-01

    We present generalized methods for calculating lower bounds on the ground-state entropy per site, S(0), or equivalently, the ground-state degeneracy per site, W=e(S(0)/k(B)), of the antiferromagnetic Potts model. We use these methods to derive improved lower bounds on W for several lattices.

  9. High-Performance Water Electrolysis System with Double Nanostructured Superaerophobic Electrodes.

    Science.gov (United States)

    Xu, Wenwen; Lu, Zhiyi; Wan, Pengbo; Kuang, Yun; Sun, Xiaoming

    2016-05-01

    Catalysts screening and structural optimization are both essential for pursuing a high-efficient water electrolysis system (WES) with reduced energy supply. This study demonstrates an advanced WES with double superaerophobic electrodes, which are achieved by constructing a nanostructured NiMo alloy and NiFe layered double hydroxide (NiFe-LDH) films for hydrogen evolution and oxygen evolution reactions, respectively. The superaerophobic property gives rise to significantly reduced adhesion forces to gas bubbles and thereby accelerates the hydrogen and oxygen bubble releasing behaviors. Benefited from these metrics and the high intrinsic activities of catalysts, this WES affords an early onset potential (≈1.5 V) for water splitting and ultrafast catalytic current density increase (≈0.83 mA mV(-1) ), resulting in ≈2.69 times higher performance compared to the commercial Pt/C and IrO2 /C catalysts based counterpart under 1.9 V. Moreover, enhanced performance at high temperature as well as prominent stability further demonstrate the practical application of this WES. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  10. Evaluating The Impact Of Building Information Modeling (BIM) On Construction

    Science.gov (United States)

    2009-01-01

    geospatial) features (USACE WES 2006). Just as a librarian may use the Dewey Decimal or Library of Congress Systems to organize millions of works...SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT UU 18. NUMBER OF PAGES 223 19a. NAME OF RESPONSIBLE PERSON a. REPORT unclassified b. ABSTRACT

  11. Quantitative Profiling of Major Neutral Lipid Classes in Human Meibum by Direct Infusion Electrospray Ionization Mass Spectrometry

    Science.gov (United States)

    Chen, Jianzhong; Green, Kari B.; Nichols, Kelly K.

    2013-01-01

    Purpose. The purpose of this investigation was to better understand lipid composition in human meibum. Methods. Intact lipids in meibum samples were detected by direct infusion electrospray ionization mass spectrometry (ESI-MS) analysis in positive detection mode using sodium iodide (NaI) as an additive. The peak intensities of all major types of lipid species, that is, wax esters (WEs), cholesteryl esters (CEs), and diesters (DEs) were corrected for peak overlapping and isotopic distribution; an additional ionization efficiency correction was performed for WEs and CEs, which was simplified by the observation that the corresponding ionization efficiency was primarily dependent on the specific lipid class and saturation degree of the lipids while independent of the carbon chain length. A set of WE and CE standards was spiked in meibum samples for ionization efficiency determination and absolute quantitation. Results. The absolute amount (μmol/mg) for each of 51 WEs and 31 CEs in meibum samples was determined. The summed masses for 51 WEs and 31 CEs accounted for 48 ± 4% and 40 ± 2%, respectively, of the total meibum lipids. The mass percentages of saturated and unsaturated species were determined to be 75 ± 2% and 25 ± 1% for CEs and 14 ± 1% and 86 ± 1% for WEs. The profiles for two types of DEs were also obtained, which include 42 α,ω Type II DEs, and 21 ω Type I-St DEs. Conclusions. Major neutral lipid classes in meibum samples were quantitatively profiled by ESI-MS analysis with NaI additive. PMID:23847307

  12. Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia.

    Science.gov (United States)

    Chiou, Kuan-Rau; Chen, Chung-Yung; Charng, Min-Ji

    2015-01-01

    Whole exome sequencing (WES) is a recently developed method for discovering rare mutations associated with hereditary disorders. However, the feasibility and utilization of this method in identifying familial hypertriglyceridemia is not well known. The purpose of the study was to identify the genetic locus that causes hypertriglyceridemia and assess its prevalence in Taiwanese subjects with hypertriglyceridemia. We performed WES among two individuals with hypertriglyceridemia and one control subject in an index family (22 members). Based on the WES findings, we extended the study to genotype 65 unrelated adult index patients with a fasting serum triglyceride level of > 500 mg/dL and 125 normal controls using polymerase chain reaction. Using WES alignment, variant calling and annotation, 15 presumptive causal variants were initially identified, including 13 cases by the autosomal dominant model and two cases by the autosomal recessive model. Only APOA5 c.553 G > T (rs2075291), resulting in the amino acid mutation Gly185Cys, co-segregated well with hypertriglyceridemia in terms of autosomal recessive inheritance (homozygote TT: mean triglyceride level: 1,071 mg/dL vs non TT (GT and GG): mean triglyceride level: 118 mg/dL; p < 0.001) in the index family. In the unrelated cohorts, the frequency of the TT genotype of rs2075291 was 12.3% in the hypertriglyceridemic group; however, no TT genotype was found in the control group. Our results demonstrate that WES is feasible for identifying the genetic locus that causes hypertriglyceridemia. The TT genotype of APOA5 c.553G > T acts as an important indicator of hypertriglyceridemia in patients in Taiwan.

  13. Molecular diagnosis of putative Stargardt disease probands by exome sequencing

    Directory of Open Access Journals (Sweden)

    Strom Samuel P

    2012-08-01

    Full Text Available Abstract Background The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases. Methods We performed whole exome sequencing (WES of nine putative Stargardt Disease probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Follow-up dideoxy sequencing was performed for confirmation and to screen for mutations in an additional set of affected individuals lacking a definitive molecular diagnosis. Results Whole exome sequencing revealed seven likely disease-causing variants across four genes, providing a confident genetic diagnosis in six previously uncharacterized participants. We identified four previously missed mutations in ABCA4 across three individuals. Likely disease-causing mutations in RDS/PRPH2, ELOVL, and CRB1 were also identified. Conclusions Our findings highlight the enormous potential of whole exome sequencing in Stargardt Disease molecular diagnosis and research. WES adequately assayed all coding sequences and canonical splice sites of ABCA4 in this study. Additionally, WES enables the identification of disease-related alleles in other genes. This work highlights the importance of collecting parental genetic material for WES testing as the current knowledge of human genome variation limits the determination of causality between identified variants and disease. While larger sample sizes are required to establish the precision and accuracy of this type of testing, this study supports WES for inherited early onset macular degeneration disorders as an alternative to standard mutation screening techniques.

  14. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

    Science.gov (United States)

    de Castro-Miró, Marta; Tonda, Raul; Escudero-Ferruz, Paula; Andrés, Rosa; Mayor-Lorenzo, Andrés; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez-Ezcurra, Juan José; Farrando, Jorge; Pérez-Santonja, Juan J.; Cormand, Bru; Marfany, Gemma

    2016-01-01

    Background NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD). Methods A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. Initial prioritization analysis included around 300 IRD-associated genes. In non-diagnosed families a search for pathogenic mutations in novel genes was undertaken. Results Genetic diagnosis was attained in 18 families. Moreover, a plausible candidate is proposed for 10 more cases. Two thirds of the mutations were novel, including 4 chromosomal rearrangements, which expand the IRD allelic heterogeneity and highlight the contribution of private mutations. Our results prompted clinical re-evaluation of some patients resulting in assignment to a syndromic instead of non-syndromic IRD. Notably, WES unveiled four new candidates for non-syndromic IRD: SEMA6B, CEP78, CEP250, SCLT1, the two latter previously associated to syndromic disorders. We provide functional data supporting that missense mutations in CEP250 alter cilia formation. Conclusion The diagnostic efficiency of WES, and strictly following the ACMG/AMP criteria is 55% in reported causative genes or functionally supported new candidates, plus 30% families in which likely pathogenic or VGUS/VUS variants were identified in plausible candidates. Our results highlight the clinical utility of WES for molecular diagnosis of IRD, provide a wider spectrum of mutations and concomitant genetic variants, and challenge our view on syndromic vs non-syndromic, and causative vs modifier genes. PMID:28005958

  15. The plant economics spectrum is structured by leaf habits and growth forms across subtropical species.

    Science.gov (United States)

    Zhao, Yan-Tao; Ali, Arshad; Yan, En-Rong

    2017-02-01

    The plant economics spectrum that integrates the combination of leaf and wood syndromes provides a useful framework for the examination of species strategies at the whole-plant level. However, it remains unclear how species that differ in leaf habits and growth forms are integrated within the plant economics spectrum in subtropical forests. We measured five leaf and six wood traits across 58 subtropical plant species, which represented two leaf habits (evergreen vs deciduous) and two growth forms (tree vs shrub) in eastern China. Principal component analysis (PCA) was employed separately to construct the leaf (LES), wood (WES) and whole-plant (WPES) economics spectra. Leaf and wood traits are highly intra- and intercorrelated, thus defining not only the LES and WES, but also a WPES. Multi-trait variations in PCAs revealed that the traits which were representative of the acquisitive strategy, i.e., cheap tissue investment and rapid returns on that investment, were clustered at one end, while traits that represented the conservative strategy, i.e., expensive tissue investment and slower returns, were clustered at other end in each of the axes of the leaf and wood syndromes (PC1-axis) and the plant height strategy (PC2-axis). The local WPES, LES and WES were tightly correlated with each other. Evergreens shaped the conservative side, while deciduous species structured the acquisitive side of the WPES and LES. With respect to plant height strategies, trees formulated the acquisitive side and shrub species made up the conservative side of the WPES, LES and WES. In conclusion, our results suggested that the LES and WES were coordinated to a WPES for subtropical species. The finding of this local spectrum of plant form and function would be beneficial for modeling nutrient fluxes and species compositions in the changing climate, but also for understanding species strategies in an evolutionary context. © The Author 2016. Published by Oxford University Press. All rights

  16. Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.

    Science.gov (United States)

    Burgos, Mariana; Arenas, Alvaro; Cabrera, Rodrigo

    2016-08-01

    Inherited long QT syndrome (LQTS) is a cardiac channelopathy characterized by a prolongation of QT interval and the risk of syncope, cardiac arrest, and sudden cardiac death. Genetic diagnosis of LQTS is critical in medical practice as results can guide adequate management of patients and distinguish phenocopies such as catecholaminergic polymorphic ventricular tachycardia (CPVT). However, extensive screening of large genomic regions is required in order to reliably identify genetic causes. Semiconductor whole exome sequencing (WES) is a promising approach for the identification of variants in the coding regions of most human genes. DNA samples from 21 Colombian patients clinically diagnosed with LQTS were enriched for coding regions using multiplex polymerase chain reaction (PCR) and subjected to WES using a semiconductor sequencer. Semiconductor WES showed mean coverage of 93.6 % for all coding regions relevant to LQTS at >10× depth with high intra- and inter-assay depth heterogeneity. Fifteen variants were detected in 12 patients in genes associated with LQTS. Three variants were identified in three patients in genes associated with CPVT. Co-segregation analysis was performed when possible. All variants were analyzed with two pathogenicity prediction algorithms. The overall prevalence of LQTS and CPVT variants in our cohort was 71.4 %. All LQTS variants previously identified through commercial genetic testing were identified. Standardized WES assays can be easily implemented, often at a lower cost than sequencing panels. Our results show that WES can identify LQTS-causing mutations and permits differential diagnosis of related conditions in a real-world clinical setting. However, high heterogeneity in sequencing depth and low coverage in the most relevant genes is expected to be associated with reduced analytical sensitivity.

  17. The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology.

    Science.gov (United States)

    Zhu, Qianqian; Hu, Qiang; Shepherd, Lori; Wang, Jianmin; Wei, Lei; Morrison, Carl D; Conroy, Jeffrey M; Glenn, Sean T; Davis, Warren; Kwan, Marilyn L; Ergas, Isaac J; Roh, Janise M; Kushi, Lawrence H; Ambrosone, Christine B; Liu, Song; Yao, Song

    2015-08-01

    Whole-exome sequencing (WES) has recently emerged as an appealing approach to systematically study coding variants. However, the requirement for a large amount of high-quality DNA poses a barrier that may limit its application in large cancer epidemiologic studies. We evaluated the performance of WES with low input amount and saliva DNA as an alternative source material. Five breast cancer patients were randomly selected from the Pathways Study. From each patient, four samples, including 3 μg, 1 μg, and 0.2 μg blood DNA and 1 μg saliva DNA, were aliquoted for library preparation using the Agilent SureSelect Kit and sequencing using Illumina HiSeq2500. Quality metrics of sequencing and variant calling, as well as concordance of variant calls from the whole exome and 21 known breast cancer genes, were assessed by input amount and DNA source. There was little difference by input amount or DNA source on the quality of sequencing and variant calling. The concordance rate was about 98% for single-nucleotide variant calls and 83% to 86% for short insertion/deletion calls. For the 21 known breast cancer genes, WES based on low input amount and saliva DNA identified the same set variants in samples from a same patient. Low DNA input amount, as well as saliva DNA, can be used to generate WES data of satisfactory quality. Our findings support the expansion of WES applications in cancer epidemiologic studies where only low DNA amount or saliva samples are available. ©2015 American Association for Cancer Research.

  18. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

    Science.gov (United States)

    Bourchany, Aurélie; Thauvin-Robinet, Christel; Lehalle, Daphné; Bruel, Ange-Line; Masurel-Paulet, Alice; Jean, Nolwenn; Nambot, Sophie; Willems, Marjorie; Lambert, Laetitia; El Chehadeh-Djebbar, Salima; Schaefer, Elise; Jaquette, Aurélia; St-Onge, Judith; Poe, Charlotte; Jouan, Thibaud; Chevarin, Martin; Callier, Patrick; Mosca-Boidron, Anne-Laure; Laurent, Nicole; Lefebvre, Mathilde; Huet, Frédéric; Houcinat, Nada; Moutton, Sébastien; Philippe, Christophe; Tran-Mau-Them, Frédéric; Vitobello, Antonio; Kuentz, Paul; Duffourd, Yannis; Rivière, Jean-Baptiste; Thevenon, Julien; Faivre, Laurence

    2017-08-12

    Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results. WES was proposed to 29 patients with severe undiagnosed disorders with developmental abnormalities and faced with medical situations requiring rapid diagnosis. Each family gave consent. The extracted DNA was sequenced on a NextSeq500 (Illumina) instrument. Data were analyzed following standard procedures. Variants were interpreted using in-house software. Each rare variant affecting protein sequences with clinical relevance was tested for familial segregation. The diagnostic rate was 45% (13/29), with a mean turnaround time of 40 days from reception of the specimen to delivery of results to the referring physician. Besides permitting genetic counseling, the rapid diagnosis for positive families led to two pre-natal diagnoses and two inclusions in clinical trials. This pilot study demonstrated the feasibility of rapid diagnostic WES in our primary genetics center. It reduced the diagnostic odyssey and helped provide support to families. Copyright © 2017. Published by Elsevier Masson SAS.

  19. Ciceronas apie vertimą. Ką mums atskleidžia žodžių reikšmės | Cicero about Translation: Exploring the Meaning of Words

    Directory of Open Access Journals (Sweden)

    Audronė Kučinskienė

    2012-01-01

    Full Text Available The author of the article reveals Cicero’s attitude towards translation, exploring some passages from his rhetorical and philosophical treatises which deal with translation from Greek to Latin, and paying most attention to the usage of words with the mean­ing “translate, translator”.To conclude, the regular Latin verb for “to trans­late” (convertere in Cicero’s usage implies neither the accuracy or literalism of translation. For a close literal translation he uses interpretari or such ex­pressions as ad verbum (verbum de verbo verbum e verbo, ad verbum exprimere, verbum pro verbo reddere. The verbs exprimere, explicare, reddere are used more or less metaphorically to express various aspects of translation from Greek, which includes also a free interpretation of the original and borrow­ing some elements from the original. According to our observations, Fin. I. 7 is the only case in Cicero’s extant scripts, as well as the first in Latin literature, when the verb transferre, while meaning “to trans­fer, to borrow, to use in context” comes closest to vertere. By contrast, the authors of I–II AD, such as Seneca, Pliny the Elder and the Younger, Quintilian use the word transferre with the meaning of transla­tion quite regularly.We argue that when Cicero calls himself not in­terpres, sed orator, he tries to indicate first of all not the closeness or freedom of translation, but rather the rhetorical power of his text. He is not afraid to use a word in not a very common sense, or two words for one in the original, or to create a new one if necessary, which may seem too bold for the interpretes indiserti not so skilled and well-trained in rhetorics. Cicero approached his work of translation without any pre­conceived rules, and the main standard referred to is his own taste based on the ruling principle of rhetor­ics – decorum, aptum, prepon – i.e. appropriateness. Cicero, as a translator as well as an orator, matches every

  20. Antagonistic formation motion of cooperative agents

    Institute of Scientific and Technical Information of China (English)

    卢婉婷; 代明香; 薛方正

    2015-01-01

    This paper investigates a new formation motion problem of a class of first-order multi-agent systems with antagonis-tic interactions. A distributed formation control algorithm is proposed for each agent to realize the antagonistic formation motion. A sufficient condition is derived to ensure that all agents make an antagonistic formation motion in a distributed manner. It is shown that all agents can be spontaneously divided into several groups, and agents in the same group collab-orate while agents in different groups compete. Finally, a numerical simulation is included to demonstrate our theoretical results.

  1. Tycho Brahe

    Science.gov (United States)

    Dreyer, John Louis Emil

    2014-02-01

    Preface; 1. The revival of astronomy in Europe; 2. Tycho Brahe's youth; 3. The new star of 1572; 4. Tycho's oration on astrology and his travels in 1575; 5. The island of Hveen and Tycho Brahe's observatories and other buildings; 6. Tycho's life at Hveen until the death of King Frederick II; 7. Tycho's book on the comet of 1577, and his system of the world; 8. Further work on the star of 1572; 9. The last years at Hveen, 1588-97; 10. Tycho's life from his leaving Hveen until his arrival at Prague; 11. Tycho Brahe in Bohemia - his death; 12. Tycho Brahe's scientific achievements; Appendix; Notes; Index.

  2. Popular Public Discourse at Speakers' Corner: Negotiating Cultural Identities in Interaction

    DEFF Research Database (Denmark)

    McIlvenny, Paul

    1996-01-01

    In this paper I examine how cultural identities are actively negotiated in popular debate at a multicultural public setting in London. Speakers at Speakers' Corner manage the local construction of group affiliation, audience response and argument in and through talk, within the context of ethnic......, religious and general topical 'soap-box' oration. However, audiences are not passive receivers of rhetorical messages. They are active negotiators of interpretations and alignments that may conflict with the speaker's and other audience members' orientations to prior talk. Speakers' Corner is a space...

  3. Aspectos da prosódia da língua francesa e sua influência nos quatro livros para cravo de François Couperin

    OpenAIRE

    Beatriz Carneiro Pavan

    2015-01-01

    Resumo: Este trabalho mostra como características vindas do discurso oratório francês do século XVIII encontram equivalência na obra para cravo de François Couperin, contida nos Quatre Livres de Pièces de Clavecin. Consolidando a ideia de que a busca por conformidade entre língua falada e música esteve presente durante o período musical barroco, entende-se que características comuns a estas duas formas de expressão encontram similitudes. Desta maneira, para embasar esta tese foram estudadas f...

  4. Proceedings of the Meeting of the Coastal Engineering Research Board (53rd) Held in Fort Lauderdale/Dania, Florida on 5-7 June 1990

    Science.gov (United States)

    1991-08-01

    Lillycrop. CEWES-CD-SE Mr. Kenneth R. Akers. CESAD-EN lAJ James N. Marino , CEWES-CV Dr. Albert G. Holler, Jr., CESAD-EN-IIH Mr. William H. McAnally, CEWES...34 Truilt. Coastal Planiriiig aInd Cor >oration. Coral lai’Ies. Florida Engineering. Sarasota. Florida Dr. S. Ji nathan Siah, Greenhorne and Dr. Elliot F...with subsequent Federal reimbursement. Local preconstruction planning is underway for 8.4 miles of shoreline in Palm Beach County as follows: the Coral

  5. A VLSI System-on-Chip for Particle Detectors

    CERN Document Server

    AUTHOR|(CDS)2078019

    In this thesis I present a System-on-Chip (SoC) I designed to oer a self- contained, compact data acquisition platform for micromegas detector mon- itoring. I carried on my work within the RD-51 collab oration of CERN. With a companion ADC, my architecture is capable to acquire the signal from a detector electro de, pro cess the data and p erform monitoring tests. The SoC is built around on a custom 8-bit micropro cessor with internal mem- ory resources and emb eds the p eripherals to b e interf...

  6. Metapopulation Dynamics of the Softshell Clam, Mya arenaria

    Science.gov (United States)

    2008-06-01

    clani 11yo, am(naria in the Northwest Atlantic using elemenital signia- tires ilcorp)orat,edl into the larval shell as tags of’ nat,al habital . MY first... millennial time scales (e.g. Biourgoin Oceanographic Institution, where they were placed in mesh and Risk, 1987). bags and suspended in a 750 L tank with...Morgan, R., Block, S., Ulanowicz, N., Buys , C., 1978. Genetic variation in the soft,- shelled clamn, Mya armnaHia. Estuaries 1 (4), 255-258. Newell, C

  7. Surface freshwater from Bay of Bengal runoff and Indonesian throughflow in the tropical Indian Ocean

    Digital Repository Service at National Institute of Oceanography (India)

    Sengupta, D.; Raj, B.; Shenoi, S.S.C.

    et al. [2005]). In addition to the western pathway in winter iden- tified from observations (Donguy and Meyers [1996]; Rao and Sivakumar [2003]), model simulations (e.g. Han et al. [2001]) and experiments using tracers/drifters suggest that BoB water... and impact of BoB freshwater. The use of upper ocean salinity observations to study the movement of freshwater is problematic because salin- ity is influenced by seasonally varying rain (P) and evap- oration (E) (Donguy and Meyers [1996]; Rao and Sivaku- mar...

  8. Tissue necrosis following intramuscular diclofenac injection

    Directory of Open Access Journals (Sweden)

    Feyzi Çelik

    2010-09-01

    Full Text Available Following intramuscular drug injections, livedoid dermati-tis (also known as embolia cutis medicamentosa or NicolauSyndrome, characterized by pain, skin discoloration,and cutaneous necrosis, may rarely be observed. In thepresent study, we present a 32-year-old male patient whodeveloped Nicolau Syndrome after intramuscular injec-tion of single-dose diclofenac sodium 75 mg due to renalcolic pain. The physical examination revealed skin discol-oration in his left gluteal region, and a skin necrosis. Caseis very interesting because of rarely.

  9. On the ComPilation and Translation of Scientific PaPers%浅谈科技论文编译中的细节处理二

    Institute of Scientific and Technical Information of China (English)

    訾敏

    2015-01-01

    文章对现代科技论文编译中的细节处理进行了分析,指出了应注意的部分细节,并对个别容易出现语法问题的地方进行了举例说明。%The analysis on details handling of words and phrases in compilation and translation of scientific papers was made. Meanwhile,the aspects that shall be paid great attention to were emphasized. Finally,examples were taken to elab-orate what grammatical errors may be easily made.

  10. Letters from an Army Officer to His Son Concerning the Study of the Great Captains.

    Science.gov (United States)

    1988-06-01

    181. 15. Ibid. 25 CHAPTER V GUSTAVUS ADOLPHUS1 As we look at the career and contributions to thp irt of war of the great Swedish king, Gustavus...ceeded to the Swedish throne in 1611 at age 17, and died during the Battle of Lutzen in November 1632. Why the immense gap between Caesar and Gustavus...seven languages; he was considered the best orator in Sweden; he was unexcelled in the use of weapons and good in gymnastic sports; early in life he was

  11. The Florida Image Slicer for Infrared Astrophysics and Cosmology

    Directory of Open Access Journals (Sweden)

    S. N. Raines

    2007-01-01

    Full Text Available We report on the design, manufacture, and scientific performance of the Florida Image Slicer for Infrared Astrophysics and Cosmol- ogy (FISICA, a fully cryogenic all-reective image slicing integral _eld unit (IFU for the FLAMINGOS near-infrared spectrograph (Elston et al. 2003. We find that FISICA is capable of delivering excellent scientific re- sults. It now operates as a turnkey instru- ment at the KPNO 4-m telescope via collab- oration with the instrument team, who can assist with the proposal preparation and ob- servations, as well as provide the data reduc- tion tools for integral field spectroscopy.

  12. El discurso en la transición democrática: aplicaciones metodológicas para el análisis del discurso político.

    Directory of Open Access Journals (Sweden)

    Antonio Pantoja Chaves.

    2009-01-01

    Full Text Available Resumen: El especial interés que contiene el proceso de Transición democrática en nuestro análisis reside en la aplicación de una serie de principios metodológicos que pueden ofrecernos conclusiones especialmente válidas para este período histórico. La finalidad del método consiste en determinar el antagonismo existente entre el orador y el auditorio a quien se dirige, y del mismo modo, analizar qué tipo de regulación está empleando en cada momento. La aplicación práctica del método sobre la serie de discursos seleccionados parte de la traducción de las manifestaciones del orador, sus expresiones, a siete regulaciones, con la intención de observar la tendencia de su discurso, la relación del orador con el auditorio. El orador, consciente del poder que posee su palabra, va a ir trazando su discurso, su pensamiento, el cual nos servirá de indicador esencial a la hora de iniciar un análisis coherente del mismo mediante el método de las regulaciones.Summary: The special interest that contains the process of democratic Transition in our analysis resides in the application of a series of methodological principles that can offer conclusions especially valid for this historical period. The purpose of the method consists of determining the existing opposition between the orator and the target auditorium, and in the same way, analyzing which type of regulation is using at all times. The practical application of the method on the series of chosen speeches departs from the translation of the declarations of the orator, his expressions, to seven regulations, with the intention of observing the tendency of his speech, the relation of the orator with the auditorium. The orator, conscious of the power that possesses his word, is going to be planning his speech, his thoughts, which will serve us as an essential indicator at the time of initiating a coherent analysis of it by means of the method of regulations.

  13. Control Software for the VERITAS Cerenkov Telescope System

    Science.gov (United States)

    Krawczynski, H.; Olevitch, M.; Sembroski, G.; Gibbs, K.

    2003-07-01

    The VERITAS collab oration is developing a system of initially 4 and ˇ eventually 7 Cerenkov telescopes of the 12 m diameter class for high sensitivity gamma-ray astronomy in the >50 GeV energy range. In this contribution we describe the software that controls and monitors the various VERITAS subsystems. The software uses an object-oriented approach to cop e with the complexities that arise from using sub-groups of the 7 VERITAS telescopes to observe several sources at the same time. Inter-pro cess communication is based on the CORBA object Request Broker proto col and watch-dog processes monitor the sub-system performance.

  14. Adjustment of Tsunami Source Parameters By Adjoint Methods

    Science.gov (United States)

    Pires, C.; Miranda, P.

    Tsunami waveforms recorded at tide gauges can be used to adjust tsunami source pa- rameters and, indirectly, seismic focal parameters. Simple inversion methods, based on ray-tracing techniques, only used a small fraction of available information. More elab- orate techniques, based on the Green's functions methods, also have some limitations in their scope. A new methodology, using a variational approach, allows for a much more general inversion, which can directly optimize focal parameters of tsunamigenic earthquakes. Idealized synthetic data and an application to the 1969 Gorringe Earth- quake are used to validate the methodology.

  15. OCULAR INJURIES CAUSED BY BB GUN

    Directory of Open Access Journals (Sweden)

    M.S. Farahvash

    1999-08-01

    Full Text Available in ordere to determine the prognosis of perforating eye injuries caused hy BB guns in our patients, the"nvisual and anatomic results of 14 patients with gun injuries seen between September 1996 and February 1998 in Farafti Hospital and private office in Tehran were reviewed. Five patients liad nonn erf orating eye injuries. All perforated eyes underwent scleral buckling, tenseclomy, vitrectomy ami silicone injection. All injured iyes had a visual acuity of light perception or better at presentation. Among 9 cases of perforating injuries. 7 had doable and 2 had single perforation. All patients had a final.

  16. The Nature of Mental Abilities.

    Science.gov (United States)

    1978-06-01

    DC 2033 0 Research Bran ch AFMPC/DFMYF Randolph AF E , TX 78 1 11 8 Dr. Marty R ockway ( A F H R L / T T ) Lowry AFB Colora do 80230 Major W ayn e S...ero erra B lvd . Amherst , t~A 01332 St--rord , CA 911305 1 Dr. Bar bara Hayes -Roth ERIC Facili ty—Acquisitions The Rand Ccrp oratic n 4833 Rug by...HORNO Y K E 600 Mountain Avenue THE RAND C O R F O R A T 1 O N Murray Hill , NJ 079711 1700 MAIN STREET SANTA MO N ICA , CA 901106 PROF. FUMIKO £M-~E

  17. Fare Well, Free Trade

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    @@ This Christmas the world economy offers few reasons for good cheer. As credit contracts and asset prices plunge, demand across the globe is shrivelling. Rich countries collectively face the severest recession since the second world war: this week's cut in the target for the federal funds rate to between zero and 0.25% shows how fearful America's pol-icymakers are. And conditions are deteri-orating fast too in emerging economies, which have been whacked by tumbling exports and the drying-up of foreign fi-nance.

  18. "SOCRATICS" AS ADDRESSES OF ISOCRATES’ EPIDEICTIC SPEECHES (Against the Sophists, Encomium of Helen, Busiris

    Directory of Open Access Journals (Sweden)

    Anna Usacheva

    2012-06-01

    Full Text Available This article analyses the three epideictic orations of Isocrates which are in themselves a precious testimony of the quality of intellectual life at the close of the fourth century before Christ. To this period belong also the Socratics who are generally seen as an important link between Socrates and Plato. The author of this article proposes a more productive approach to the study of Antisthenes, Euclid of Megara and other so-called Socratics, revealing them not as independent thinkers but rather as adherents of the sophistic school and also as teachers, thereby, including them among those who took part in the educative activity of their time

  19. De la palabra-acción a la palabra-imitación: itinerario retórico de Cicerón

    Directory of Open Access Journals (Sweden)

    Carlos Lévy

    2012-12-01

    Full Text Available This paper aims to show how Cicero's consideration of eloquence as imitation was a late decision in his life caused by the circumstances. The expression "Ciceronian challenge" refers here to the conversion from a rhetoric based on the concept of force to a rhetoric where the concept of imitation has gained greater importance. Although during the early years of his career as orator, Cicero favored the representation of the spoken word as illocutionary and perlocutionary force -as in Austin's terms -, towards the end of his life he took a more abstract position in which the concept of imitation finally prevailed as a key word in his rhetoric.

  20. 电子文件环境下的前端控制%Front Control in the Environment of Electronic Records

    Institute of Scientific and Technical Information of China (English)

    王玲

    2012-01-01

    This paper first describes the theory of front control for electronic documents, then elab- orates the reasons for it from both theory and practice angles, in the end, proposes several methods.%文章首先阐述了电子文件前端控制的理论,并且从理论和实践的角度阐述了对电子文件进行前端控制的原因,最后从多个层面提出了电子文件前端控制的方法。

  1. Evaluating the hydrological functioning and the supply of water provisioning services to support the ecosystem-water-food-energy nexus in the Arno river basin

    Science.gov (United States)

    Pacetti, Tommaso; Willaarts, Barbara; Caporali, Enrica; Schroeder Esselbach, Boris

    2017-04-01

    Water, flowing in a basin, underpins key provisioning ecosystem services like freshwater supply, food and energy production. River basin management largely determines the type of water-related ecosystem services (WES) that are provided and the extent to which trade-offs and synergies might arise. Gaining insights on the ecohydrological behavior of a basin and on the conflicting anthropic pressures on the available water resources allows to identify the most important WES, as well as the existence of WES supply and demand hotspots. This information is crucial for water resources management and, in the context of the European Union, also required to comply with the requirements of the Water Framework Directive (WFD). The purpose of this research is to quantify the provisioning WES in the upstream part of the Arno river basin (Central Italy) and identify WES hotspots and fluxes. Current information on how water is allocated in the Arno basin remains scarce, despite the increasing water demand by some sectors, particularly irrigation, and a number of emerging conflicts among users. It is expected that research outputs can support the improvement of the existing management framework, moving from the classical DPSIR (Driving forces, Pressure, State, Impact e Response) approach, where impacts must be reduced or mitigated, to a more proactive framework to support the sustainability of the Arno basin and meet the different policy goals. The eco-hydrological model SWAT (Soil Water Assessment Tool) is applied to spatially quantify the provision of WES. The preliminary results of this research indicate that the highest amount of water yield, i.e. net amount of water that contributes to streamflow and represents the main blue water fund, originates in the northern part of the basin, characterized by forest areas. In contrast, the southern part of the basin, which is mainly agriculturally used, gives a minor contribution to the overall water yield, in direct proportion to the

  2. Listening for Noise in Political Thought

    Directory of Open Access Journals (Sweden)

    Bruce Buchan

    2012-11-01

    Full Text Available The acoustic dimension of political philosophy has rarely attracted serious attention, in part because scholars have tended to assume that political theories, ideas, and concepts, exist as abstract entities that are often noiselessly communicated in written texts. And yet, the noisy communication of political ideas whether in the form of Socratic dialogues, Churchillian orations, or in the hushed tones of focus group conversations treasured by deliberative democrats today, has a rich political history and a continuing relevance. This paper will focus on five performative modes for the communication of political ideas: the monologue, the dialogue, the oration, the interjection, and the noisy crowd. While this list may not be exhaustive, it will be used here as a starting point for further exploration. I will contend that in each of these performative modes, the communication of political ideas is framed by the noise of actual, or textually imagined kinds of political speech designed to underscore the validity of the ideas conveyed. One of the most important reasons for traversing this variable performative and acoustic terrain today is to enable us to hear and to listen to political speech amid the potentially polluting hum of political white noise.

  3. ’n Retoriese analise van die vyf lykdigte in T.T. Cloete se Allotroop

    Directory of Open Access Journals (Sweden)

    L. Viljoen

    1995-05-01

    Full Text Available A rhetorical analysis of the five funerary poems in T.T. Cloete’s AlloiroopThis article works from the premise that these poems form part o f a tradition that can he traced back to the funerary poetry of the Dutch Renaissance and from there to the funeral orations of Classical times. After referring to the current revival of interest in rhetoric, attention is given to the role which rhetoric played in Renaissance poetics and the influence it had on the practice of writing funerary poetry. The funerary poems in Cloete's Allotroop are then analysed, making use of the Renaissance descriptions of and prescriptions for funerary poetry researched by S.F. Witstein in Funeraire poëzie in de Nederlandse Renaissance. These analyses prove that Cloete’s poems make use of the elements basic to the Renaissance funerary poem and the classical funeral oration namely praise (laus, mourning (luctus and consolation (consolatio and that the rhetorical terminology devised centuries ago can still be useful in the reading of these poems.

  4. Metabolic flux between unsaturated and saturated fatty acids is controlled by the FabA:FabB ratio in the fully reconstituted fatty acid biosynthetic pathway of Escherichia coli.

    Science.gov (United States)

    Xiao, Xirui; Yu, Xingye; Khosla, Chaitan

    2013-11-19

    The entire fatty acid biosynthetic pathway of Escherichia coli, starting from the acetyl-CoA carboxylase, has been reconstituted in vitro from 14 purified protein components. Radiotracer analysis verified stoichiometric conversion of acetyl-CoA and NAD(P)H to the free fatty acid product, allowing implementation of a facile spectrophotometric assay for kinetic analysis of this multienzyme system. At steady state, a maximal turnover rate of 0.5 s(-1) was achieved. Under optimal turnover conditions, the predominant products were C16 and C18 saturated as well as monounsaturated fatty acids. The reconstituted system allowed us to quantitatively interrogate the factors that influence metabolic flux toward unsaturated versus saturated fatty acids. In particular, the concentrations of the dehydratase FabA and the β-ketoacyl synthase FabB were found to be crucial for controlling this property. Via changes in these variables, the percentage of unsaturated fatty acid produced could be adjusted between 10 and 50% without significantly affecting the maximal turnover rate of the pathway. Our reconstituted system provides a powerful tool for understanding and engineering rate-limiting and regulatory steps in this complex and practically significant metabolic pathway.

  5. [Reconstruction assisted by 3D printing in maxillofacial surgery].

    Science.gov (United States)

    Ernoult, C; Bouletreau, P; Meyer, C; Aubry, S; Breton, P; Bachelet, J-T

    2015-04-01

    3-dimensional models (3D) appeared in the medical field 20 years ago. The recent development of consumer 3D printers explains the renewed interest in this technology. We describe the technical and practical modalities of this surgical tool, illustrated by concrete examples. The OsiriX(®) software (version 5.8.5, Geneva, Switzerland) was used for 3D surface reconstruction of the area of interest, the generation and export of ".stl" file. The NetFabb(®) software (Basic version 5.1.1, Lupburg, Germany) provided the preparation of ".stl" file. The 3D-printer was an Up plus 2 Easy 120(®) (PP3DP, Beijing Technology Co. TierTime Ltd., Chine). The printer used fused deposition modeling. The softwar Up!(®) allowed the 3d impression as required. The first case illustrated the value of 3D printing in the upper (frontal sinus and orbital roof). The second case concerned the preconfiguration of the osteosynthesis material for a complex fracture of the midface through the "mirroring" system. The third case showed the conformation of a prereconstruction for segmental mandibulectomy. Current 3D-printers are easy to use and represent a promising solution for medical prototyping. The 3D printing will quickly become undeniable because of its advantages: information sharing, simulation, surgical guides, pedagogy. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  6. Transcription of the Escherichia coli fatty acid synthesis operon fabHDG is directly activated by FadR and inhibited by ppGpp.

    Science.gov (United States)

    My, Laetitia; Rekoske, Brian; Lemke, Justin J; Viala, Julie P; Gourse, Richard L; Bouveret, Emmanuelle

    2013-08-01

    In Escherichia coli, FadR and FabR are transcriptional regulators that control the expression of fatty acid degradation and unsaturated fatty acid synthesis genes, depending on the availability of fatty acids. In this report, we focus on the dual transcriptional regulator FadR. In the absence of fatty acids, FadR represses the transcription of fad genes required for fatty acid degradation. However, FadR is also an activator, stimulating transcription of the products of the fabA and fabB genes responsible for unsaturated fatty acid synthesis. In this study, we show that FadR directly activates another fatty acid synthesis promoter, PfabH, which transcribes the fabHDG operon, indicating that FadR is a global regulator of both fatty acid degradation and fatty acid synthesis. We also demonstrate that ppGpp and its cofactor DksA, known primarily for their role in regulation of the synthesis of the translational machinery, directly inhibit transcription from the fabH promoter. ppGpp also inhibits the fadR promoter, thereby reducing transcription activation of fabH by FadR indirectly. Our study shows that both ppGpp and FadR have direct roles in the control of fatty acid promoters, linking expression in response to both translation activity and fatty acid availability.

  7. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

    Science.gov (United States)

    Milewicz, Dianna M; Regalado, Ellen S; Shendure, Jay; Nickerson, Deborah A; Guo, Dong-chuan

    2014-02-01

    Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of the disease, referred to as familial TAAD (FTAAD) that can be inherited in an autosomal dominant manner with variable expression with respect to disease presentation, age of onset and associated features. Whole exome sequencing (WES) has been used to identify causative mutations in novel genes for TAAD. The strategy used to reduce the large number of rare variants identified using WES is to sequence distant relatives with TAAD and filter for heterozygous rare variants that are shared between the relatives, predicted to disrupt protein function and segregate with the TAAD phenotype in other family members. Putative genes are validated by identifying additional families with a causative mutation in the genes. This approach has successfully identified novel genes for FTAAD.

  8. Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.

    Science.gov (United States)

    Noreau, Anne; Beauchemin, Philippe; Dionne-Laporte, Alexandre; Dion, Patrick A; Rouleau, Guy A; Dupré, Nicolas

    2014-01-01

    Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two affected family members further revealed a significant cerebellar atrophy. For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected brother and sister, alongside DNA prepared from their unaffected mother, and identified two mutations previously reported to cause a rare disorder known as Congenital Disorder of Glycosylation, type Ia (CDG1A) (OMIM #212065). This study emphasizes how the diagnosis of patients presenting a mild tremor phenotype associated with cerebellar atrophy may benefit from WES in establishing genetic defects associated with their conditions.

  9. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

    Directory of Open Access Journals (Sweden)

    Joep de Ligt

    2014-12-01

    Full Text Available Copy number variation (CNV is a common source of genetic variation that has been implicated in many genomic disorders, Mendelian diseases, and common/complex traits. Genomic microarrays are often employed for CNV detection. More recently, whole-exome sequencing (WES has enabled detection of clinically relevant point mutations and small insertion—deletion exome wide. We evaluated (de Ligt et al. 2013 [1] the utility of short-read WES (SOLiD 5500xl to detect clinically relevant CNVs in DNA from 10 patients with intellectual disability and compared these results to data from three independent high-resolution microarray platforms. Calls made by the different platforms and detection software are available at dbVar under nstd84.

  10. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

    Science.gov (United States)

    Miyamichi, Daisuke; Asahina, Miki; Nakajima, Junya; Sato, Miho; Hosono, Katsuhiro; Nomura, Takahito; Negishi, Takashi; Miyake, Noriko; Hotta, Yoshihiro; Ogata, Tsutomu; Matsumoto, Naomichi

    2016-09-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Hermansky-Pudlak syndrome 6) gene. Trio-based whole-exome sequencing (WES) identified novel compound heterozygous mutations in HPS6 (c.1898delC: mother origin and c.2038C>T: father origin) in the two sisters. To date, 10 associated mutations have been detected in HPS6. Although we detected no general manifestations, including platelet dysfunction, in the sisters, even in long-term follow-up, we established a diagnosis of HPS type 6 based on the HPS6 mutations and absence of dense bodies in the platelets, indicating that WES can identify cases of HPS type 6. To the best of our knowledge, this is the first report of HPS6 mutations in Japanese patients.

  11. Comparação de softwares para análise de dados de levantamentos complexos Comparison of software programs for data analysis of complex surveys

    Directory of Open Access Journals (Sweden)

    Maria Helena de Sousa

    2000-12-01

    Full Text Available OBJETIVO: Comparar "softwares" específicos para análise de dados de levantamentos amostrais complexos, em relação às características: facilidade de aplicação, eficiência computacional e exatidão dos resultados. MÉTODOS: Utilizaram-se dados secundários da Pesquisa Nacional sobre Demografia e Saúde, de 1996, cuja população-alvo foram as mulheres de 15 a 49 anos de idade, pertencentes a uma subamostra probabilística selecionada em dois estágios, estratificada, com probabilidade proporcional ao tamanho no primeiro estágio. Foram selecionadas da subamostra as regiões Norte e Centro-oeste do País. Os parâmetros analisados foram: a média, para a variável idade, e a proporção, para cinco outras variáveis qualitativas, utilizando os "softwares" Epi Info, Stata e WesVarPC. RESULTADOS: Os programas apresentam duas opções em comum para importação de arquivos: o dBASE e arquivos tipo texto. O número de passos anteriores à execução das análises foram 21, 11 e 9, respectivamente para o Epi Info, Stata e WesVarPC. A eficiência computacional foi alta em todos eles, inferior a três segundos. Os erros padrão estimados utilizando-se o Epi Info e o Stata foram os mesmos, com aproximação até a terceira casa decimal; os do WesVarPC foram, em geral, superiores. CONCLUSÕES: O Epi Info é o mais limitado em termos das análises disponíveis, porém ele é simples de usar e gratuito. O Stata e o WesVarPC são bem mais completos nos recursos de análises, porém há a desvantagem do custo. A escolha do programa dependerá principalmente das necessidades específicas do usuário.OBJECTIVE: To compare specific software programs for data analysis of complex surveys regarding the following characteristics: ease of application, computer efficiency and accuracy of the results. METHODS: Secondary data from the Pesquisa Nacional sobre Demografia e Saúde (National survey on demography and health (1996 with a target population of women aged

  12. Esthetic index analysis after anterior tooth implantation%前牙种植修复术后美学指数分析

    Institute of Scientific and Technical Information of China (English)

    邓天政; 吕晶; 杨捷绯; 柯杰

    2012-01-01

    目的:观察专科医师对美学区单科种植体的美学效果评估并与患者主观美学满意度相比较.方法:45例在我院接受美学区单颗种植修复的患者通过拍摄口内照片由2名正畸科医师,2名修复科医师,2名牙周科医师,2名种植外科医师,按照红色美学指数(pink aesthetic index,PES)与白色美学指数(white aesthetic index,WES)标准进行美学评分.同时由患者本人对种植修复美学效果进行视觉模拟评分(visual analogue scale,VAS).结果:平均PES+WES指数是13.47±0.27,平均PES指数是5.46±0.19,平均WES指数是6.32±0.17.该指标通过Cohen' s κ检验,证实具有良好的前后一致性.Spearman分析显示:PES+WES与VAS具有显著相关性.各组专科医生PES+WES评分经Kruskal Wallis秩和检验显示无统计学差异(P=0.133>0.05),即不同专科医生美学评估结果没有差别;但WES评分具有统计学差异(P=0.019<0.05).结论:PES+WES作为种植牙关学综合指数能够全面客观地评价种植修复术后的美学效果,可以作为临床科学研究中非常有用的分析工具.VAS分析结果提示临床医生在设计评估前牙单颗种植体时要充分考虑患者对不同牙齿的审美差异.%Objective To observe the implant aesthetic effect in aesthetic area by the specialist and compare with the subjective aesthetic satisfaction by patients. Methods 45 patients who underwent implant prosthesis in aesthetics area in the hospital. Oral photographs were taken to score according to the pink aesthetic index (PES) and white aesthetic index (WES) by two orthodontists.two prosthodontists.two periodontists and two implant dentistry. Degree of patient satisfaction was measured using a visual analogue scale (VAS). Results The average PES+WES is 13.47±0.27,average PES is 5.46±0.19, average WES is 6.32±0.17. The results analysed by Cohen 's Kanalysis showed good consistency. Spearman analysis showed that PES + WES and VAS has significant correlation

  13. Solid polymer electrolyte water electrolysis system development. [to generate oxygen for manned space station applications

    Science.gov (United States)

    1975-01-01

    Solid polymer electrolyte technology used in a water electrolysis system (WES) to generate oxygen and hydrogen for manned space station applications was investigated. A four-man rated, low pressure breadboard water electrolysis system with the necessary instrumentation and controls was fabricated and tested. A six man rated, high pressure, high temperature, advanced preprototype WES was developed. This configuration included the design and development of an advanced water electrolysis module, capable of operation at 400 psig and 200 F, and a dynamic phase separator/pump in place of a passive phase separator design. Evaluation of this system demonstrated the goal of safe, unattended automated operation at high pressure and high temperature with an accumulated gas generation time of over 1000 hours.

  14. Test plan for preliminary study of inorganic contaminant removal from RMA groundwater

    Energy Technology Data Exchange (ETDEWEB)

    Thompson, D.; Terkonda, P.; Weeks, N.

    1978-02-01

    This document consists of a major report on inorganic contaminant removal from ground water. In this plan, WES has been requested by the OPM-CDIR to conduct a literature review and preliminary laboratory treatability studies on various source waters at RMA. Recommendation is that the determination of suitable treatment processes be based on both engineering and economic analysis and that the processes be compatible with the organic contaminant treatment processes under study (activated carbon adsorption and ultraviolet/ozone oxidation). The amendment to the test plan presents the inorganic treatment processes found from the literature to be applicable to the inorganic contaminants in RMA ground water and outlines the bench scale study to be conducted at WES using the potential processes. The rest of the document is correspondence and reports on various water treatability.

  15. Polysaccharides from Gracilaria corticata: sulfation, chemical characterization and anti-HSV activities.

    Science.gov (United States)

    Chattopadhyay, Kausik; Ghosh, Tuhin; Pujol, Carlos A; Carlucci, María J; Damonte, Elsa B; Ray, Bimalendu

    2008-11-01

    In this study, we have analyzed water-extracted polysaccharides of Gracilaria corticata. The water extract (WE), a galactan-containing sub-fraction (F3) and their hyper sulfated derivatives (WES1, WES2, F3S1 and F3S2) had anti-HSV activity with inhibitory concentration 50% (IC50) from 1.1 to 27.4 microg/ml. Sub-fraction F3, which has a molecular mass of 30 kDa, consists of a backbone of beta-(1-->3) and alpha-(1-->4)-linked-galactopyranosyl residues. This linear galactan contained Gal2Xyl1, Gal2AnGal2, Gal4 and Me-Gal3AnGal2 as oligomeric building subunits. Sulfate group was located at C-4 of (1-->3)-linked galactopyranosyl residues of the native galactan, and appeared to be very important for the anti-herpetic activity.

  16. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

    Directory of Open Access Journals (Sweden)

    Uluç Yis

    2016-01-01

    Full Text Available Megaconial congenital muscular dystrophy (OMIM 602541 is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB gene c.1031G>A (p.R344Q in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.

  17. History of the Waterways Experiment Station

    Science.gov (United States)

    1968-06-01

    Humphrey and Abbott ! ), maybe to the menace of New-Deal schemes like that shadowy Tennessee Val ley Authority (shades of Vag’s later career ! ), and...George A. Wilkerson Thelma B. Williams Doris Womack Mary H. Wood Appendix XVII OFFICE OF THE COMPTROLLER l . The fiscal organization of the WES was...Jr. Guy W. .Al·ender, Jr . Francis W. Atkinson William L. Bache, Jr. Henry J . Baker Robert B. Ball Charles L. Barber Jobn H. Barber Humphrey

  18. The Soviet Central Asian Challenge: A Neo-Gramscian Analysis.

    Science.gov (United States)

    1986-09-01

    Wes’terners on the Muslim issuzs of’ the Soviet Lnion see Serge Zenkovsky’s article [Ref. 781. 69 JLy counterhegemonic revolution can the State’s hegemonic...Intelligence Agency Langely , Virgihia 2050z 16. Lt. Col. Wise IIQ US CENTCOM,’CCJ5IM cDill A FB Tampa, Florida 33608-7001 17. Ca t. Mike Maggard U’Armv

  19. Aquatic Plant Control Research Program. Large-Scale Operations Management Test (LSOMT) of Insects and Pathogens for Control of Waterhyacinth in Louisiana. Volume 1. Results for 1979-1981.

    Science.gov (United States)

    1985-01-01

    Results for 1979-1981 * 7. AUTHOR(e) 8. CONTRACT OR GRANT NUMBER(s) "’ Dana R. Sanders, Sr. Edwin A. Theriot Patricia Perfetti 9. PERFORMING...Division (ERD), Environmental Laboratory (EL), WES, and Dr. Patricia Perfetti , University of Tennessee-Chattanooga, Chattanooga, Tennessee. The field...Sanders, D. R., Sr., Theriot, E. A., and Perfetti , P. 1985. "Large-Scale Operations Management Test (LSOMT) of Insects and Pathogens for Control

  20. Proceedings of the Meeting of the Coastal Engineering Research Board (59th) Held in Point Clear, Alabama on 16-18 November 1993

    Science.gov (United States)

    1994-07-01

    information for this publication; Waterways Experiment Station’s (WES) Mr. Andre Z. Szuwalski for assisting in the Coastal Engineering Research Center...Agency, Region 4, Atlanta, GA Service Mr. John P. Carey ,labama State Docks, Mobile, AL Contractor Mr. J. Michael Hemsley, National Buoy Mr. Andre Z...loose south of New Orleans, either into the from the marsh-building capability of the Breton Sound to the east or into the Barataria river. Basin to the

  1. The Corps of Engineers and Prairie Restoration: Synopsis of the First Corps Prairie Workshop, Follow-up Actions, and Thoughts on the Future of Prairie Restoration and Management on Operational Projects

    Science.gov (United States)

    2009-06-01

    in the Willamette Valley includes a program to benefit populations of the Fender’s blue butterfly and its host plant Kincaid’s lupine ...increasing populations of the endangered Fender’s blue butterfly (Icaricia icarioides fenderi) and its rare host plant, Kincaid’s lupine (Lupinus...blue butterfly and its host plant Kincaid’s lupine (Wes Messinger photo). The Kansas Natural Heritage Inventory and statewide rare plant surveys

  2. Proceedings of the DICE THROW Symposium 21-23 June 1977. Volume 1

    Science.gov (United States)

    1977-07-01

    Major Gerhard Zahlmann, and Robert A. Cole, U.S. Army Engineer Waterways Experiment Station. 15. AIRCRAFT SHELTER TESTS IN THE DICE TIHROW EVENT...BRL GURKE, Gerhard - Germany HAYES, Bernard - LLL HEGGIE, R. M. - Canada HEINTZEL, COL Hans-H. - Germany HUFF, William L. - WES HUGHES, Peter - NWEF...ATTN: Peter Brandt , L -2006 ATTN: Gar lang ATTN: Peter K. I-, 111/2170 ATTIN: R.k. Plebuch, R1/2078 Phsics International Compan> A[TN: Thomas G. Williams

  3. Proceedings of the Annual Meeting, Aquatic Plant Control Research Program (25th) Held in Orlando, Florida on 26-30 November 1990

    Science.gov (United States)

    1991-06-01

    Myriophyllum biologia 174:225-234. spicatum L. in Devil’s Lake, Wisconsin. Barko, J. W., D. Gunnison, and S. R. Carpenter. J. Freshwater Ecol. (in press...mechanisms of specificity at both the organis- pears to be the same in seedpods as it is in mic and molecular levels, stems and leaves. No detectable...lectin haptenic speci- WES research focused on mechanisms of ficity, our next objective was to evaluate the specificity at the molecular level

  4. Disease: H01137 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01137 Baylisascariasis Baylisascariasis is a parasitic infection caused by Baylisa...iasis includes visceral larva migrans, neural larva migrans, and ocular larva migrans. Neural larva migrans can lead to se...vere neurologic disease such as eosinophilic meningoencephalitis in humans. Infectious dise...ase Baylisascaris procyonis Larval excretory-secretory antigens (ELISA assay and Wes...Baylisascariasis. Clin Microbiol Rev 18:703-18 (2005) PMID:15715975 (description, drug) Wise ME, Sorvillo FJ

  5. Pathophysiology and Toxicokinetic Studies of Blue-Green Algae Intoxication in the Swine Model

    Science.gov (United States)

    1991-06-26

    Wiley, New York, pp. 100 109. Fox, P. R. (1986) Cor pulmonale . In: Kirk, R. W. (ed.), Current Veterinary Therapy IX: Small Animal Practice, Vol. 9. W...es ind a Tra~ cor Norflhern 1:%M( 30H) . Nomninal parameters for data acquINitIol1 were 5WX daita Points. acýquis: ~ion timeTi 10 ins, low filter 0R5 It

  6. Summary of the Richard B. Russell Concrete Dam Vibration Study.

    Science.gov (United States)

    1988-02-01

    REPORT (Year. Month,. Day) 15 PAGE COUN T - ., tROM _____To __ Februarv 1988 6 5K51EN’S" 0-A-ON Aabsle f--m National Technical Information Service, 5285...SL, and was edited by Ms. Lee T. Byrne of the Information Products Division, Information Technology Laboratory, WES. COL Dwayne G. Lee, CE, is the...the dam. 50. Measurements from both tests at the relative joint motion arrays indicated relative motions between monoliths. The nonlinear behavoir of

  7. Proceedings of Workshop on Algal Management and Control Held on 9-12 march 1980 at Pacific Grove, Calif.

    Science.gov (United States)

    1981-05-01

    McLachlan, J. and J. Craigie. 1964. Algal inhibition by yellow ultraviolet- absorbing substances from Fucus vesiculosus . CANADIAN JOURNAL OF BOTANY 42:287-292...WES) Environmental and Water Quality Opera- tional Studies (EWQOS) Program under Interagency Agreement No. EPA-IAG-78-R- X0383. EWQOS is sponsured by...algal control and espe- cially of algicide applications has come to be what it is today partly through the slow, historical realization that water is a

  8. Human tear film and meibum. Very long chain wax esters and (O-acyl)-omega-hydroxy fatty acids of meibum

    Science.gov (United States)

    Butovich, Igor A.; Wojtowicz, Jadwiga C.; Molai, Mike

    2009-01-01

    Human meibum was targetly analyzed for the presence of intact wax esters (WEs) and related compounds by means of reverse-phase HPLC in combination with ion trap mass spectrometry. The major detected WEs were based on C18:n (n = 1–4) unsaturated FAs ranking in the following order of abundance: C18:1>C18:2>C18:3>C18:4. The major fatty alcohols (FAls) found in WE were of saturated nature and varied from C18:0 to C28:0. The three most abundant species were C18:1-FA esters of C24:0, C25:0, and C26:0-FAl. Typically, a major compound based on C18:1-FA and a saturated FAl was accompanied by a few related compounds based on a C18:2, C18:3, and C18:4-FA. Contrary to previous reports, no epoxy-WEs or epoxy-FAs were detected in fresh and 1-year-old meibum samples. More than 20 (O-acyl)-ω-hydroxy-FAs (OAHFAs) were observed. The main detected OAHFAs were based on very long-chain ω-hydroxy-FA (C30:1, C32:1, and C34:1) acylated through their ω-hydroxyls by a C18:1-FA. Due to their amphiphilic anionogenic nature, OAHFAs may be responsible for stabilization of the tear film lipid layer by creating an interface between the vast pool of strictly nonpolar lipids of meibum (WEs, cholesteryl esters, etc.) and the aqueous subphase beneath it, a role previously attributed to phospholipids. PMID:19535818

  9. SeqHBase: a big data toolset for family based sequencing data analysis.

    Science.gov (United States)

    He, Min; Person, Thomas N; Hebbring, Scott J; Heinzen, Ethan; Ye, Zhan; Schrodi, Steven J; McPherson, Elizabeth W; Lin, Simon M; Peissig, Peggy L; Brilliant, Murray H; O'Rawe, Jason; Robison, Reid J; Lyon, Gholson J; Wang, Kai

    2015-04-01

    Whole-genome sequencing (WGS) and whole-exome sequencing (WES) technologies are increasingly used to identify disease-contributing mutations in human genomic studies. It can be a significant challenge to process such data, especially when a large family or cohort is sequenced. Our objective was to develop a big data toolset to efficiently manipulate genome-wide variants, functional annotations and coverage, together with conducting family based sequencing data analysis. Hadoop is a framework for reliable, scalable, distributed processing of large data sets using MapReduce programming models. Based on Hadoop and HBase, we developed SeqHBase, a big data-based toolset for analysing family based sequencing data to detect de novo, inherited homozygous, or compound heterozygous mutations that may contribute to disease manifestations. SeqHBase takes as input BAM files (for coverage at every site), variant call format (VCF) files (for variant calls) and functional annotations (for variant prioritisation). We applied SeqHBase to a 5-member nuclear family and a 10-member 3-generation family with WGS data, as well as a 4-member nuclear family with WES data. Analysis times were almost linearly scalable with number of data nodes. With 20 data nodes, SeqHBase took about 5 secs to analyse WES familial data and approximately 1 min to analyse WGS familial data. These results demonstrate SeqHBase's high efficiency and scalability, which is necessary as WGS and WES are rapidly becoming standard methods to study the genetics of familial disorders. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. Cryptosporidium en niños de Costa Rica: cuadro clínico, variación estacional y tratamiento

    OpenAIRE

    Urbina,Andrea; Mata, Leonardo; Pizarro-Torres, Daniel

    1984-01-01

    Artículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 1984 Diarrheic and non-dtarrheic children from metropolitan and rural areas of Costa Rica were studied between January 1982 and October 1983. Fecal specimens were studied fcr Cryptosporidium (in Giemsa stained smears) and for Giardia, Blastocystis, rotavirus, Campylobacter and other ethiologic agents. Cryptosporidium wes found in 4,3 °Jo of the cases of acute diarrhea s:udied...

  11. A Technique for Evaluating the Uncertainties in Path Loss Predictions Caused by Sparsely Sampled Terrain Data

    Science.gov (United States)

    2013-06-26

    NRAO. In addition to Ben and Dr. Brown, Wes Sizemore at NRAO, and Bruce Naley, Punk Chilton and Natasha Lagoudous from NSWC all put in lots of work...other simplifications may be made by limiting the type and number of terrain features modeled. Aspects such as size , shape, and material properties of the...with large sampling sizes . Therefore, the errors which will occur in the computation should be characterized. One of the errors which has an unknown

  12. Military Hydrology. Report 3. A Review of Army Doctrine on Military Hydrology.

    Science.gov (United States)

    1981-06-01

    Sciences Laboratory, White Sands, N. Mex ., reviewed documents dealing with meteorology. Commander and Director of the WES during this study was COL...addressed in the doctrine. 35. To meet freshwater needs, water is generally obtained from either surface or underground sources. Uncontaminated surface...must come from underground sources. It is therefore impera- tive that the Army know how to locate and develop these underground supplies. 36. To

  13. Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

    OpenAIRE

    Noreau, Anne; Beauchemin, Philippe; Dionne-Laporte, Alexandre; ,; Dion, Patrick A.; Rouleau, Guy A.; Dupré, Nicolas

    2014-01-01

    Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two affected family members further revealed a significant cerebellar atrophy. For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected broth...

  14. Evaluating the Impacts of Climate Change on Soil Erosion Rates in Central Mexico

    Directory of Open Access Journals (Sweden)

    Santos Martínez-Santiago

    2017-07-01

    Full Text Available Although water-eroded soil (WES resulting from human activities has been recognized as the leading global cause of land degradation, the soil erosion risks from climate change are not clear. Studies have reported that WES is the second most significant cause of soil loss in Mexico, and its future trajectory has not been sufficiently evaluated. The aims of this study are to 1 determine the impacts of climate change on WES and its distribution for the State of Aguascalientes, Mexico, and to 2 compare the present and future soil loss rates for the study unit (SU. The State of Aguascalientes is located in the “Region del Bajio.” The impact of climate change on WES was evaluated using the near-future divided world scenario (A2 presented in the IPCC Fourth Assessment Report. Daily temperature and precipitation data from 18 weather stations were downscaled to model historic laminar water erosion (HLWE and changes therein in the A2 near-future scenario for 2010–2039 (LWEScA2. Due to future changes in mean annual rainfall (MAR levels, a change in the LWEScA2 of between 1.6 and 8.9% could result in average soil losses up to 475.4 t ha-1 yr-1, representing a loss of slightly more than a 30-mm layer of mountain soil per year. The risk zones, classified as class 4 for LWE, are located to western of the State in part of municipalities of Calvillo, Jesus María, San José de Gracia y Cosio, where there are typical hills and falls with soil very sensitive to rain erosion.

  15. Policy Jolts in U.S. Arms Transfers: The Post Cold War Security Environment

    OpenAIRE

    Misheloff, Jane

    1999-01-01

    Policy Jolts in U.S. Arms Transfers: The Post-Cold War Security Environment Jane Misheloff (ABSTRACT) This research addresses the subject of conventional arms transfers in the Post Cold War Era. ("Conventional arms" herein are defined as high cost, state-of-the-art weapons systems in aerospace, land vehicles, missiles and naval vessels. ") The rapid and startling changes in the international political environment that took place in the late 1980's forced the U.S. and her Wes...

  16. Microwave Dielectric Behavior of Soils. Report 1. Summary of Related Research and Applications

    Science.gov (United States)

    1993-12-01

    Keown and Kenneth Hall, Chiefs, Environmental Constraints Group, ESD. At the time of publication of this report, Director of WES was Dr. Robert W. Whalin...surface, the concentra- tion of water molecules should be higher than in the bulk or free water occu- pying the void spaces ( Martin 1960). Thus, one...B. B. (1983). The fractal geometry of nature. W. H. Freeman and Company, New York. Martin , R. T. (1960). "Adsorbed water on clay: A Review." Clays

  17. Hazardous Waste Land Disposal Facility Assessment. Volume 1

    Science.gov (United States)

    1988-09-01

    Facilities ( DALF ) at RVA" (USATHANA, 1984) provided the basis for the volume estimates for siting a disposal facility as discussed in Appendix 1.3. The... DALF also addressed on-site disposal options in addition to other technologies. This study supported the on-site disposal option by stating that a...impermeable bedrock do not exist at RMA. The DALF , drawing on the conclusions of the earlier WES 1983 report, recoumended a site in the northeast quarter of

  18. Blast/Fire Interactions, Asilomar Conference, May 1980,

    Science.gov (United States)

    1981-02-01

    shelter. In reality, there may be large columns that are continuous into the basement. The failure of these columns may also fail the basement roof slab ...expedient shelter after the blast testing at MILL RACE was also suggested. The WES-proposed waffle slab experiment was not recommended for inclusion. An...50-psi range, it is necessary to select a floor system that is initially strong. For this reason, reinforced concrete (R/C) slabs are chosen for

  19. Upgrading Structures for Host and Risk Area Shelters

    Science.gov (United States)

    1985-12-01

    reinforced concrete one-way floor slabs , flat plates, waffle slabs , and prestressed concrete hollow-core slabs . An extensive analytical investigation was...test was a typical slab section without upgrading, the second was upgraded with a wooden column system, and the third upgrszded with a steei beam column ...system. All three WES tests were conducted on identical one-way slabs . 7 " " An additional series of tests on flat plate and waffle slabs was

  20. Whole Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

    Science.gov (United States)

    Kaufman, Kenneth M.; Linghu, Bolan; Szustakowski, Joseph D.; Husami, Ammar; Yang, Fan; Zhang, Kejian; Filipovich, Alexandra; Fall, Ndate; Harley, John B.; Nirmala, N.R.; Grom, Alexei A.

    2015-01-01

    Objective Macrophage activation syndrome (MAS), a life-threatening complication of systemic Juvenile Idiopathic Arthritis (SJIA), resembles Familial Hemophagocytic Lymphohistiocytosis (FHLH), a constellation of autosomal recessive immune disorders resulting from deficiency in cytolytic pathway proteins. We hypothesized that MAS predisposition in SJIA could be attributed to rare gene sequence variants affecting the cytotolytic pathway. Methods Whole exome sequencing (WES) was used in 14 SJIA/MAS patients and their parents to identify protein altering SNPs/indels in the known HLH-associated genes. To discover new candidate genes, the entire WES data were filtered to identify protein altering, rare recessive homozygous, compound heterozygous, and de novo variants with the potential to affect the cytolytic pathway. Results Heterozygous protein-altering rare variants in the known genes (LYST, MUNC13-4, and STXBP2) were found in 5 of 14 SJIA/MAS patients (35.7%). This was in contrast to only 4 variants in 4 of 29 (13,7%) SJIA patients without MAS. Homozygosity and compound heterozygosity analysis applied to the entire WES data in SJIAMAS, revealed 3 recessive pairs in 3 genes, and 76 compound heterozygotes in 75 genes. We also identified 22 heterozygous rare protein altering variants that occurred in at least two patients. Many of the identified genes encode proteins with a role in actin and microtubule reorganization and vesicle-mediated transport. “Cellular assembly and organization” was the top cellular function category based on Ingenuity Pathways Analysis (p<3.10E-05). Conclusion WES performed in SJIA/MAS patients identified rare protein altering variants in the known HLH associated genes as well as new candidate genes. PMID:25047945

  1. Strength Design of Reinforced Concrete Hydraulic Structures; Report 3, T-Wall Design.

    Science.gov (United States)

    1982-01-01

    Concrete Reinforcing Steel Institute. 1978. CRSI Handbook, 3rd ed. Federation Internationale de la Precontrainte (FIP). 1974. "Recommen- dations for... concrete cover to the stirrups and main steel of a bridge floor beam that has been completely spalled off due to severe steel corrosion. 12. In this...Corrosion damage to a bridge floor beam C6 Tensile crack exposure tests by WES 13. Two series of reinforced concrete beams were made and exposed to

  2. Reducing Operating Costs by Optimizing Space in Facilities

    Science.gov (United States)

    2012-03-01

    consolidation. Until the S-File can talk to other systems and pull the data this analysis must be accomplished manually . 6) Incorporate space efficiency...Reference Manual . Public Works and Government Services Canada. British Columbia. McGregor, Wes. (2000). Facilities Management and the Business of...floor plans listed in Appendix B. AutoCAD 2010 was the software used. Other software suites may differ slightly in method or terminology. Although

  3. Dopluise (Hemiptera: Coccoidea) geassosieer met die wipstertmier, Crematogaster peringueyi Emery (Hymenoptera: Formicidae)

    OpenAIRE

    Johannes H. Giliomee

    2015-01-01

    Neste van die wipstertmier, Crematogaster peringueyi (Hymenoptera: Formicidae), is op verskeie plekke langs die kus van die Wes-Kaap versamel. Die doel was om vas te stel watter dopluisagtiges (Hemiptera: Coccoidea) in die neste in assosiasie met hierdie miere leef. Dopluise van drie families, naamlik die Pseudococcidae (witluise), Coccidae (sagtedopluise) en Kerriidae (lakdopluise) is in die neste gevind, almal bekend daarvoor dat hulle heuningdou afskei. Hierdie mutualistiese verhoudi...

  4. Repair, Evaluation, Maintenance, and Rehabilitation Research Program. High-Resolution Seismic Reflection Investigations at Beaver Dam, Arkansas

    Science.gov (United States)

    1989-07-01

    Commander and Director of WES during the preparation of this report was LTC Jack R. Stephens, EN. Technical Director was Dr. Robert W. Whalin. L1...wts u : tovoFew TS% 0111 nill sau am <~a eel:v ,*S lamin m PA.6 WIU 11501= S at WEWS 3:AN to~a Sa. w1s 6n oQUALI TY CONTROL 12111Wilt Cog oup.06 FINKS

  5. Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.

    Science.gov (United States)

    Damiati, E; Borsani, G; Giacopuzzi, Edoardo

    2016-05-01

    The Ion Proton platform allows to perform whole exome sequencing (WES) at low cost, providing rapid turnaround time and great flexibility. Products for WES on Ion Proton system include the AmpliSeq Exome kit and the recently introduced HiQ sequencing chemistry. Here, we used gold standard variants from GIAB consortium to assess the performances in variants identification, characterize the erroneous calls and develop a filtering strategy to reduce false positives. The AmpliSeq Exome kit captures a large fraction of bases (>94 %) in human CDS, ClinVar genes and ACMG genes, but with 2,041 (7 %), 449 (13 %) and 11 (19 %) genes not fully represented, respectively. Overall, 515 protein coding genes contain hard-to-sequence regions, including 90 genes from ClinVar. Performance in variants detection was maximum at mean coverage >120×, while at 90× and 70× we measured a loss of variants of 3.2 and 4.5 %, respectively. WES using HiQ chemistry showed ~71/97.5 % sensitivity, ~37/2 % FDR and ~0.66/0.98 F1 score for indels and SNPs, respectively. The proposed low, medium or high-stringency filters reduced the amount of false positives by 10.2, 21.2 and 40.4 % for indels and 21.2, 41.9 and 68.2 % for SNP, respectively. Amplicon-based WES on Ion Proton platform using HiQ chemistry emerged as a competitive approach, with improved accuracy in variants identification. False-positive variants remain an issue for the Ion Torrent technology, but our filtering strategy can be applied to reduce erroneous variants.

  6. Leasing Versus Purchasing Lessons Learned from CINCPACFLT’s Lease of Dell Information Technology

    Science.gov (United States)

    2003-06-01

    the corporate world see Eugene F. Brigham and Michael C. Ehrhardt , Financial Management : Theory and Practice, Thomson Learning, 2002, Chapter 20. 9...and Ehrhardt , Michael C. Financial Management : Theory and Practice, Thomson Learning, 2002. Buckley, J., Koczur, C., Spidell, W., Review and...library/weekly/aacincsunk.htm accessed May 20, 2003. 2 LCDR Wes Spidell, US, an E-2C Naval Flight Officer, is also a Financial Management (837) student

  7. Phase 2 Studies: Impacts of Commercial Navigation Traffic on Freshwater Mussels at the W.H. Zimmer Station, 1989-90 Baseline Studies

    Science.gov (United States)

    1991-09-01

    informatiOn Operations and Reports 121 Jeffenrson Oeiiis Highway. Suitt t204. Aclington, VA 222024302. and to the Office Of Management and Budget...Preface . Conversion Factors, Non-SI to SI Units of Measurement. .. .. .. ... vii 1- Introduction ...................... Background...was provided by Mr. Scott Schermerhorn , Ms. Cheryl Tansky, and Dr. Albert Burky, all with the University of Dayton, and Ms. Sarah Wilkerson, WES Dr

  8. Middle ear microsurgery in india: a retrospective audit study

    OpenAIRE

    Singh, Mangal; Rai, Ashutosh; Bandyopadhyay, Sarmishtha

    2006-01-01

    Around 2000 ENT Surgeons perform about 120000 middle ear microsurgery operations annually in India while the burden of otitis media is 50 million cases. A comprehensive questionnaire consisting of personal details of surgeons, his infrastructure, results, and complications was sent to 2000 ENT Surgeons from the latest AOI Directory. 400 Surgeons responded back from all over the country and the data collected was fed into a computer program and was analysed. Most of the responses were from wes...

  9. Re-Evaluation of the Lower San Fernando Dam. Report 2. Examination of the Post-Earthquake Slide of February 9, 1971

    Science.gov (United States)

    1989-09-01

    Rensselaer Polytechnic Institute (RPI), and the US Army Engineer Waterways Experiment Station (WES). Principal Investigators were Dr. Gonzalo Castro for...78. Poulos, Steve J., Castro, Gonzalo and France, John W. (1985) "Liquefaction Evaluation Procedure," Journal of the Geotechnical Engineering Division...of the Geotechnical Engineering Division, ASCE, Vol. 113, No. 8, August, 1987. Seed, H. Bolton, Idriss, I. M. and Arango , Ignacio (1983) "Evaluation of

  10. Analysis of referrals received by a psychiatric unit in a general hospital Part 2

    Directory of Open Access Journals (Sweden)

    VJ Ehlers

    2002-01-01

    Full Text Available The study sought to analyse the referrals received by a psychiatric unit in a general hospital in the Western Cape by studying the referral letters and the referral responses.

    Opsomming
    Hierdie navorsing het gepoog om verwysings te ontleed wat deur 'n psigiatriese eenheid in 'n algemene hospitaal in die Wes Kaap ontvang is. *Please note: This is a reduced version of the abstract. Please refer to PDF for full text.

  11. The Westford Water Vapor Experiment: Use of GPS to Determine Total Precipitable Water Vapor.

    Science.gov (United States)

    2007-11-02

    Radar Pole on Roof Westford, MA AOA Turbo Rogue Dome-Margolin with choke ring WES2 * Westford Antenna 10m Tower Westford, MA AOA Turbo Rogue...calculated using a raytrace program [10] which computes the zenith wet delay from the pressure, temperature, and relative humidity. What is clearly...meter steel tower. The tower is surrounded by trees. The MHR0 antenna is mounted on the roof of the main Millstone Radar building, surrounded by a

  12. A Waterborne Seismic Reflection Survey of Three Tributaries in Boston Harbor, Massachusetts

    Science.gov (United States)

    1994-08-01

    PositoninglInformation RESERVED CHANNEL, BOSTON HARBOR, MA WES Survey Line RP18 Direction: West Elevation File# Eastlng Northinx (ft. MLW) 013 731243...40CheCkrd by. Reviewed bys (Z) Approved by’ D7 7 Fn--93--D2 RP10 Mellon RP12 L.X.- RP14 FD-93-D Z" 󈧈~ RP16 no ~ RP18 CASTL- ISLAND Reserved Channel

  13. An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach

    Directory of Open Access Journals (Sweden)

    H.K. Aintablian

    2017-03-01

    There have been fewer than 25 reported cases of ACAD9 deficiency in the literature to date. We review these and compare them to the unique features of our patient. ACAD9 deficiency should be considered in the differential diagnosis of patients with lactic acidosis, seizures, and other symptoms of mitochondrial disease, including those with normal mitochondrial enzyme activities. This case demonstrates the utility of WES, in conjunction with biochemical testing, for the appropriate diagnosis and treatment of disorders of energy metabolism.

  14. Application of Computational and Visualization Methods to Groundwater Modeling

    Science.gov (United States)

    1994-09-01

    John B. Palmerton, Rock Me- chanics Branch, Soil and Rock Mechanics Division, GL, WES, performed the analysis of Cerrilios Dam in Puerto Rico discussed...two different grid sizes of the Cerrillos Dam in Puerto Rico seepage model were used (the Cerrillos Dam study was performed by Mr. John Palmerton, GL...in Table 2 go to zero for this square grid, making the formulation similar to a standard finite difference algorithm. Laboratory tesi problem Results

  15. Corps of Engineers Structural Engineering Conference Held in St. Johns County, Florida on 8-12 July 1991. Volume 1

    Science.gov (United States)

    1992-12-01

    25 Portugues Dam Monolith Layout and Survey Control ...................... 33 Cofferdam Design Problems, Point...10:30 a.m. Olmsted L&D - Holly Gittings, Jeffrey Bayers (ORL) 11:00 a.m. Portuguese Dam & Monolith Layout & Survey Control - William Wigner (SAJ...Demos "* Nonlinear Incremental Structural Analysis-NISA (WES) "* Portuguese Arch Dam Model (SAJ) "* Rio Puerto Nuevo - CADD Application (SAJ) "* Civil

  16. Management of Herbaceous Seeps and Wet Savannas for Threatened and Endangered Species.

    Science.gov (United States)

    1998-04-01

    especially in providing information about Coastal Plain depression ponds. Richard A. Fischer (WES) and Matthew Hohmann provided information on the...Depression marsh FNAI and The Nature Conservancy (TNC) 1995 NAS Pensacola and Outlying Field, Branson Wet prairie FNAI (1988) GA Air Force Moody AFB...virtually all remaining virgin forest in the South (Frost 1993). From approximately 1920 to the present, logged forests were converted to plantations, and

  17. The Risk and Clinical/Molecular Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1

    Science.gov (United States)

    2016-03-01

    those NF1 women with breast cancer history. In addition, the sequencing data appeared to have significant artifacts . WES control samples: It...germline lymphocytes DNA were randomly selected from 42 de-identified samples in Henry Ford Hospital molecular diagnostic laboratory. These DNA samples...significant number of false positive artifacts . After applying increased stringency, a significant number of false positive artifacts have been

  18. Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.

    Directory of Open Access Journals (Sweden)

    Shazia Micheal

    Full Text Available Primary congenital glaucoma (PCG is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and primary congenital glaucoma (PCG with a recessive inheritance pattern.DNA samples were obtained from consanguineous families of Pakistani ancestry. The CYP1B1 gene was sequenced in the affected probands by conventional Sanger DNA sequencing. Whole exome sequencing (WES was performed in DNA samples of four individuals belonging to three different CYP1B1-negative families. Variants identified by WES were validated by Sanger sequencing.WES identified potentially causative novel mutations in the latent transforming growth factor beta binding protein 2 (LTBP2 gene in two PCG families. In the first family a novel missense mutation (c.4934G>A; p.Arg1645Glu co-segregates with the disease phenotype, and in the second family a novel frameshift mutation (c.4031_4032insA; p.Asp1345Glyfs*6 was identified. In a third family with developmental glaucoma a novel mutation (c.3496G>A; p.Gly1166Arg was identified in the PXDN gene, which segregates with the disease.We identified three novel mutations in glaucoma families using WES; two in the LTBP2 gene and one in the PXDN gene. The results will not only enhance our current understanding of the genetic basis of glaucoma, but may also contribute to a better understanding of the diverse phenotypic consequences caused by mutations in these genes.

  19. PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

    OpenAIRE

    Auranen, Mari; Palmio, Johanna; Ylikallio, Emil; Huovinen, Sanna; Paetau, Anders; Sandell, Satu; Haapasalo, Hannu; Viitaniemi, Kati; Piirilä, Päivi; Tyynismaa, Henna; Udd, Bjarne

    2015-01-01

    Objective: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). Methods: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, laboratory examinations, and whole-exome sequencing (WES). Results: Both siblings had juvenile-onset exercise intolerance with cramping and infrequent myoglobinuria. Muscle biopsy showed extralysoso...

  20. Barcelona Harbor, New York. Design for Harbor Improvements. Hydraulic Model Investigation.

    Science.gov (United States)

    1984-08-01

    conservative. C" ) RE F[ iN( C ES Dobson, R. S. 1967. Soie ,\\~licat tons o_ a _1igital ,:i,.for , idrani i EngLneering Problems, .1.S. Tesis , Stanford I nirers...LWD) MODEL 0 5 10 FT PLATE 21 IA . ", . . L AKE ERIE /-18 -18 EL+II / ’------ ~ WES 8REAK wA TER / EL +8 A EsTr BREA ImA TER EL +9 EEL +9 1412l PLAN

  1. Reactivity of Quartz at Normal Temperatures.

    Science.gov (United States)

    1984-07-01

    Scanlon, Chief, Concrete Technology Division, and Bryant Mather, Chief, SL. The report was prepared by A. D. Buck. Others ac- tively engaged in the work...included J. P. Burkes, G. S. Wong, Jay E. Rhoderick, Ron Reinhold, J. F. Jones, and T. G. Ray. Commander and Director of the WES during preparation and...forms of common opal and presumably precious opal. (2) Vitreous silica. c. Minerals or varieties. (1) Tridymite. (2) Cristobalite . 5-. . . .: .~i p (3

  2. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15.

    Directory of Open Access Journals (Sweden)

    Hee-Jin Kim

    Full Text Available Autosomal dominant non-syndromic hearing loss (AD-NSHL is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single nucleotide polymorphism (SNP chip and pinpointed a genomic region on 5q31 with a significant linkage signal. Sequential filtering of variants obtained from WES, application of the linkage region, bioinformatic analyses, and Sanger sequencing validation identified a novel missense mutation Arg326Lys (c.977G>A in the POU homeodomain of the POU4F3 gene as the candidate disease-causing mutation in the family. POU4F3 is a known disease gene causing AD-HSLH (DFNA15 described in 5 unrelated families until now each with a unique mutation. Arg326Lys was the first missense mutation affecting the 3(rd alpha helix of the POU homeodomain harboring a bipartite nuclear localization signal sequence. The phenotype findings in our family further supported previously noted intrafamilial and interfamilial variability of DFNA15. This study demonstrated that WES in combination with linkage analysis utilizing bi-allelic SNP markers successfully identified the disease locus and causative mutation in AD-NSHL.

  3. How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples

    Directory of Open Access Journals (Sweden)

    Sumit eMiddha

    2015-07-01

    Full Text Available Whole Exome Sequencing (WES is increasingly being used for diagnosis without adequate information on predictive characteristics of reportable variants typically found on any given individual and correlation with clinical phenotype. In this study, we performed WES on 89 deceased individuals (mean age at death 74 years, range 28-93 from the Mayo Clinic Biobank. Significant clinical diagnoses were abstracted from electronic-medical-record via chart review. Variants (Single Nucleotide Variant and insertion/deletion were filtered based on quality (accuracy >99%, read-depth >20, alternate-allele read-depth >5, minor-allele-frequency 0.19. Evaluating genotype-phenotype correlations across the exome, 202 (3% of 7046 filtered variants had some evidence for phenotypic correlation in medical-records, while 3710 (53% variants had no phenotypic correlation. The phenotype associated with the remaining 44% could not be assessed from a typical medical record review. These data highlight significant continued challenges in the ability to extract medically meaningful predictive results from WES.

  4. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

    Science.gov (United States)

    Tsuboi, Masaya; Watanabe, Manabu; Nibe, Kazumi; Yoshimi, Natsuko; Kato, Akihisa; Sakaguchi, Masahiro; Yamato, Osamu; Tanaka, Miyuu; Kuwamura, Mitsuru; Kushida, Kazuya; Harada, Tomoyuki; Chambers, James Kenn; Sugano, Sumio; Uchida, Kazuyuki; Nakayama, Hiroyuki

    2017-01-01

    Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as “spheroids,” throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations. Among them, three candidates were determined to be “deleterious” by in silico pathogenesis evaluation. By subsequent massive screening by TaqMan genotyping analysis, only the PLA2G6 c.1579G>A mutation had an association with the presence or absence of the disease, suggesting that it may be a causal mutation of canine NAD. As a human homologue of this gene is a causative gene for infantile neuroaxonal dystrophy, this canine phenotype may serve as a good animal model for human disease. The results of this study also indicate that WES analysis is a powerful tool for exploring canine hereditary diseases, especially in rare monogenic hereditary diseases. PMID:28107443

  5. Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

    Science.gov (United States)

    Karaca, Ender; Buyukkaya, Ramazan; Pehlivan, Davut; Charng, Wu-Lin; Yaykasli, Kursat O.; Bayram, Yavuz; Gambin, Tomasz; Withers, Marjorie; Atik, Mehmed M.; Arslanoglu, Ilknur; Bolu, Semih; Erdin, Serkan; Buyukkaya, Ayla; Yaykasli, Emine; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.

    2015-01-01

    Context: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. Objective: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk—characteristic clinical diagnostic findings of PSIS. Design and Participants: WES was applied to two affected and one unaffected siblings. Results: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein–coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. Conclusion: Mutations of GPR161 may be implicated as a potential novel cause of PSIS. PMID:25322266

  6. Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences.

    Science.gov (United States)

    Kriegsmann, Mark; Endris, Volker; Wolf, Thomas; Pfarr, Nicole; Stenzinger, Albrecht; Loibl, Sibylle; Denkert, Carsten; Schneeweiss, Andreas; Budczies, Jan; Sinn, Peter; Weichert, Wilko

    2014-10-30

    Mutational profiling of triple-negative breast cancer (TNBC) by whole exome sequencing (WES) yielded a landscape of genomic alterations in this tumor entity. However, the clinical significance of these findings remains enigmatic. Further, integration of WES in routine diagnostics using formalin-fixed paraffin-embedded (FFPE) material is currently not feasible. Therefore, we designed and validated a breast cancer specific gene panel for semiconductor-based sequencing comprising 137 amplicons covering mutational hotspots in 44 genes and applied this panel on a cohort of 104 well-characterized FFPE TNBC with complete clinical follow-up. TP53 mutations were present in more than 80% of cases. PI3K pathway alterations (29.8%) comprising mainly PIK3CA mutations (22.1%) but also mutations and/or amplifications/deletions in other PI3K-associated genes (7.7%) were far more frequently observed, when compared to WES data. Alterations in MAPK signaling genes (8.7%) and cell-cycle regulators (14.4%) were also frequent. Mutational profiles were linked to TNBC subgroups defined by morphology and immunohistochemistry. Alterations in cell-cycle pathway regulators were linked with better overall (p=0.053) but not disease free survival. Taken together, we could demonstrate that breast cancer targeted hotspot sequencing is feasible in a routine setting and yields reliable and clinically meaningful results. Mutational spectra were linked to clinical and immunohistochemically defined parameters.

  7. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

    Directory of Open Access Journals (Sweden)

    Xiwei Hao

    Full Text Available BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Whole exome sequencing (WES was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin. RESULTS: A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala, and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*. This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes. CONCLUSIONS: Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.

  8. Allele-specific copy-number discovery from whole-genome and whole-exome sequencing

    Science.gov (United States)

    Wang, WeiBo; Wang, Wei; Sun, Wei; Crowley, James J.; Szatkiewicz, Jin P.

    2015-01-01

    Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV detection and produce allele-specific copy number (ASCN) calls. Although statistical methods have been developed to detect CNVs using whole-genome sequence (WGS) and/or whole-exome sequence (WES) data, information from allele-specific read counts has not yet been adequately exploited. In this paper, we develop an integrated method, called AS-GENSENG, which incorporates allele-specific read counts in CNV detection and estimates ASCN using either WGS or WES data. To evaluate the performance of AS-GENSENG, we conducted extensive simulations, generated empirical data using existing WGS and WES data sets and validated predicted CNVs using an independent methodology. We conclude that AS-GENSENG not only predicts accurate ASCN calls but also improves the accuracy of total copy number calls, owing to its unique ability to exploit information from both total and allele-specific read counts while accounting for various experimental biases in sequence data. Our novel, user-friendly and computationally efficient method and a complete analytic protocol is freely available at https://sourceforge.net/projects/asgenseng/. PMID:25883151

  9. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

    Science.gov (United States)

    Jin, Hyun-Seok; Kim, Jeonhyun; Kwak, Woori; Jeong, Hyeonsoo; Lim, Gyu-Bin

    2017-01-01

    Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation of endogenous BRD4 expression in human lens epithelial cells. The protein expression levels of connexin 43, p62, LC3BII, and p53 differed significantly between control cells and cells in which endogenous BRD4 expression was inhibited. We inferred that a BRD4 missense mutation was the likely disease-causing mutation in this family. Our findings may improve the molecular diagnosis of congenital cataracts and support the use of WES to clarify the genetic basis of complex diseases. PMID:28076398

  10. Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

    Directory of Open Access Journals (Sweden)

    Janice L Farlow

    Full Text Available Genetic risk factors for intracranial aneurysm (IA are not yet fully understood. Genomewide association studies have been successful at identifying common variants; however, the role of rare variation in IA susceptibility has not been fully explored. In this study, we report the use of whole exome sequencing (WES in seven densely-affected families (45 individuals recruited as part of the Familial Intracranial Aneurysm study. WES variants were prioritized by functional prediction, frequency, predicted pathogenicity, and segregation within families. Using these criteria, 68 variants in 68 genes were prioritized across the seven families. Of the genes that were expressed in IA tissue, one gene (TMEM132B was differentially expressed in aneurysmal samples (n=44 as compared to control samples (n=16 (false discovery rate adjusted p-value=0.023. We demonstrate that sequencing of densely affected families permits exploration of the role of rare variants in a relatively common disease such as IA, although there are important study design considerations for applying sequencing to complex disorders. In this study, we explore methods of WES variant prioritization, including the incorporation of unaffected individuals, multipoint linkage analysis, biological pathway information, and transcriptome profiling. Further studies are needed to validate and characterize the set of variants and genes identified in this study.

  11. Whole Exome Sequencing Identifies Multiple, Complex Etiologies in an Idiopathic Hereditary Pancreatitis Kindred

    Science.gov (United States)

    LaRusch, Jessica; Barmada, M. Michael; Solomon, Sheila; Whitcomb, David C.

    2013-01-01

    Context Hereditary pancreatitis is the early onset form of chronic pancreatitis that is carried in an autosomal dominant pattern with variable penetrance. While 80% of HP has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of HP families have no identified genetic cause for illness, thus no reliable screening options or clear therapy. Objective To explore the use of massive parallel DNA sequencing technology to discover the etiology of pancreatitis in a family with idiopathic hereditary pancreatitis. Design candidate gene screening and verification within a kindred. Setting Prospective cohort study, university based. Patients or participants Kindred with idiopathic hereditary pancreatitis. Interventions none Main outcome measures identification of DNA variants predicted to increase susceptibility to pancreatitis. Methods whole exome sequencing (WES) of two distantly related subjects with variant-specific confirmation in the subjects and other family members. Results We identified three deleterious genetic changes in the three major pancreatitis associated genes (PRSS1 CNV, SPINK1 c.27delC and CFTR R117H), two of which were carried by each patient. Individual targeted assays confirmed these variations in the two WES patients as well as affected and non-affected pedigree members. Conclusion WES was useful for rapid screening of candidate genes linked to pancreatitis. This method opens the door for time- and cost-effective screening of multiple disease-associated genes and modifying factors that associate in different ways to generate a complex genetic disorder. PMID:22572128

  12. Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

    Directory of Open Access Journals (Sweden)

    Hee Jeong Yoo

    2015-03-01

    Full Text Available Rubinstein-Taybi syndrome (RSTS is a rare condition with a prevalence of 1 in 125,000–720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS and Autism diagnostic interview revised (ADI-R to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.

  13. Electrochemical Characterization of O2 Plasma Functionalized Multi-Walled Carbon Nanotube Electrode for Legionella pneumophila DNA Sensor

    Science.gov (United States)

    Park, Eun Jin; Lee, Jun-Yong; Hyup Kim, Jun; Kug Kim, Sun; Lee, Cheol Jin; Min, Nam Ki

    2010-08-01

    An electrochemical DNA sensor for Legionella pneumophila detection was constructed using O2 plasma functionalized multi-walled carbon nanotube (MWCNT) film as a working electrode (WE). The cyclic voltammetry (CV) results revealed that the electrocatalytic activity of plasma functionalized MWCNT (pf-MWCNT) significantly changed depending on O2 plasma treatment time due to some oxygen containing functional groups on the pf-MWCNT surface. Scanning electron microscope (SEM) images and X-ray photoelectron spectroscopy (XPS) spectra were also presented the changes of their surface morphologies and oxygen composition before and after plasma treatment. From a comparison study, it was found that the pf-MWCNT WEs had higher electrocatalytic activity and more capability of probe DNA immobilization: therefore, electrochemical signal changes by probe DNA immobilization and hybridization on pf-MWCNT WEs were larger than on Au WEs. The pf-MWCNT based DNA sensor was able to detect a concentration range of 10 pM-100 nM of target DNA to detect L. pneumophila.

  14. Epicuticular Wax in Developing Olives (Olea europaea) Is Highly Dependent upon Cultivar and Fruit Ripeness.

    Science.gov (United States)

    Vichi, Stefania; Cortés-Francisco, Nuria; Caixach, Josep; Barrios, Gonçal; Mateu, Jordi; Ninot, Antonia; Romero, Agustí

    2016-08-01

    The epicuticular wax (EW) layer is located on the surface of most plant organs. It provides the cuticle with most of its properties and is the primary barrier against biotic and abiotic stress. Despite the importance of Olea europaea cultivation, few studies have characterized the EW covering leaves and olives, which could be involved in resistance to both infection and environmental conditions. In the present study, wide-ranging screening was carried out using direct-injection electrospray ionization coupled to high-resolution mass spectrometry to analyze EW in developing olives of nine varieties. The proportions of EW fractions [wax esters (WEs), diacylglycerols, triacylglycerols (TAGs), triterpenic acids, and aldehydes] strongly depended upon the olive cultivar and, in only a few cases, were influenced by the sampling date. The specific compositions of the major fractions, WEs and TAGs, were strictly related to the cultivar, while the degree of unsaturation and chain length of the WEs evolved throughout the 4 weeks prior to the olive turning color.

  15. Effects of alkalinity sources on the stability of anaerobic digestion from food waste.

    Science.gov (United States)

    Chen, Shujun; Zhang, Jishi; Wang, Xikui

    2015-11-01

    This study investigated the effects of some alkalinity sources on the stability of anaerobic digestion (AD) from food waste (FW). Four alkalinity sources, namely lime mud from papermaking (LMP), waste eggshell (WES), CaCO3 and NaHCO3, were applied as buffer materials and their stability effects were evaluated in batch AD. The results showed that LMP and CaCO3 had more remarkable effects than NaHCO3 and WES on FW stabilization. The methane yields were 120.2, 197.0, 156.2, 251.0 and 194.8 ml g(-1) VS for the control and synergistic digestions of CaCO3, NaHCO3, LMP and WES added into FW, respectively. The corresponding final alkalinity reached 5906, 7307, 9504, 7820 and 6782 mg l(-1), while the final acidities were determined to be 501, 200, 50, 350 and 250 mg l(-1), respectively. This indicated that the synergism between alkalinity and inorganic micronutrients from different alkalinity sources played an important role in the process stability of AD from FW.

  16. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

    Directory of Open Access Journals (Sweden)

    Qin-Kang Lu

    2015-12-01

    Full Text Available AIM: To identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD. METHODS: A southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES, coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family members. RESULTS: The results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block transactivation. CONCLUSION: All modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

  17. Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making.

    Science.gov (United States)

    De Paoli-Iseppi, Ricardo; Johansson, Peter A; Menzies, Alexander M; Dias, Kerith-Rae; Pupo, Gulietta M; Kakavand, Hojabr; Wilmott, James S; Mann, Graham J; Hayward, Nicholas K; Dinger, Marcel E; Long, Georgina V; Scolyer, Richard A

    2016-04-01

    The identification of recurrent driver mutations by whole-exome sequencing (WES) of fresh-frozen human cancers and the subsequent development of novel targeted therapies have recently transformed the treatment of many cancers including melanoma. In routine clinical practice, fresh-frozen tissue is rarely available and mutation testing usually needs to be carried out on archival formalin fixed, paraffin embedded (FFPE) tissue, from which DNA is typically fragmented, cross-linked and of lower quality. In this study we aimed to determine whether WES data generated from genomic DNA (gDNA) extracted from FFPE tissues can be produced reliably and of clinically-actionable standard. In this study of ten melanoma patients, we compared WES data produced from analysis of gDNA isolated from FFPE tumour tissue with that isolated from fresh-frozen tumour tissue from the same specimen. FFPE samples were sequenced using both Illumina's Nextera and NimbleGen SeqCap exome capture kits. To examine mutations between the two tissue sources and platforms, somatic mutations in the FFPE exomes were called using the matched fresh tissue sequence as a reference. Of the 10 FFPE DNA samples, seven Nextera and four SeqCap samples passed library preparation. On average, there were 5341 and 2246 variants lost in FFPE compared to matched fresh tissue utilising Nextera and SeqCap kits, respectively. In order to explore the feasibility of future clinical implementation of WES, FFPE variants in 27 genes of important clinical relevance in melanoma were assessed. The average concordance rate was 43.2% over a total of 1299 calls for the chosen genes in the FFPE DNA. For the current clinically most important melanoma mutations, 0/3 BRAF and 6/8 (75%) NRAS FFPE calls were concordant with the fresh tissue result, which was confirmed using a Sequenom OncoCarta Panel. The poor performance of FFPE WES indicates that specialised library construction to account for low quality DNA and further refinements will

  18. SIRT1/HERC4 Locus Associated with Bisphosphonate-Induced Osteonecrosis of the Jaw: An Exome-Wide Association Analysis.

    Science.gov (United States)

    Yang, Guang; Hamadeh, Issam; Katz, Joseph; Riva, Alberto; Lakatos, Peter; Balla, Bernadett; Kosa, Janos; Vaszilko, Mihaly; Pelliccioni, Gian Andrea; Davis, Noa; Langaee, Taimour Y; Moreb, Jan S; Gong, Yan

    2017-08-30

    Osteonecrosis of jaw (ONJ) is a rare but serious adverse drug side effect, mainly associated with the use of intravenous (IV) bisphosphonates (BPs). The purpose of this study was to identify genetic variants associated with ONJ in patients of European ancestry treated with IV BPs using a whole-exome sequencing (WES). The WES phase 1 included 44 multiple myeloma patients (22 ONJ cases and 22 controls) and WES phase 2 included 17 ONJ patients with solid tumors. Multivariable logistic regression analysis was performed to estimate the odds ratios (ORs) and 95% confidence intervals (CI) adjusting for age, gender and principal components for ancestry. Meta-analysis of WES phase 1 and 2 was performed to estimate the combined ORs. In silico analyses were then performed to identify expression quantitative loci (eQTL) single nucleotide polymorphisms (SNPs) that are in high linkage disequilibrium (LD) with the top SNPs. The associations of the potentially functional SNPs were replicated and validated in an independent case-control study of 48 patients of European ancestry treated with IV BPs (19 ONJ cases and 29 controls). The top SNPs in the exome-wide association meta-analysis were two SNPs on Chromosome 10: SIRT1 SNP rs7896005 and HERC4 SNP rs3758392 with identical OR of 0.07 (0.01-0.46) (p = 3.83*10(-5) ). In the in silico functional analyses, two promoter region SNPs (rs7894483 and rs3758391) were identified to be in high LD with the index SNPs and are eQTLs for SIRT1 gene in whole blood in the GTEx database. The ORs were 0.30 (0.10-0.88), 0.26 (0.12-0.55), and 0.26 (0.12-0.55) for the WES top SNP rs7896005 and two promoter SNPs rs7894483 and rs3758391, respectively, in the replication sample. In summary, we identified the SIRT1/HERC4 locus on Chromosome 10 to be associated with IV BPs related ONJ and two promoter SNPs that might be the potential genetic markers for this association. This article is protected by copyright. All rights reserved. This article is

  19. EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

    Directory of Open Access Journals (Sweden)

    Coutant Sophie

    2012-09-01

    Full Text Available Abstract Background Whole exome sequencing (WES has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research, and diagnostic methods leading to personalized medicine. A plethora of efficient algorithms has been developed to ensure the variant discovery. They generally lead to ~20,000 variations that have to be narrow down to find the potential pathogenic allelic variant(s and the affected gene(s. For this purpose, commonly adopted procedures which implicate various filtering strategies have emerged: exclusion of common variations, type of the allelics variants, pathogenicity effect prediction, modes of inheritance and multiple individuals for exome comparison. To deal with the expansion of WES in medical genomics individual laboratories, new convivial and versatile software tools have to implement these filtering steps. Non-programmer biologists have to be autonomous combining themselves different filtering criteria and conduct a personal strategy depending on their assumptions and study design. Results We describe EVA (Exome Variation Analyzer, a user-friendly web-interfaced software dedicated to the filtering strategies for medical WES. Thanks to different modules, EVA (i integrates and stores annotated exome variation data as strictly confidential to the project owner, (ii allows to combine the main filters dealing with common variations, molecular types, inheritance mode and multiple samples, (iii offers the browsing of annotated data and filtered results in various interactive tables, graphical visualizations and statistical charts, (iv and finally offers export files and cross-links to external useful databases and softwares for further prioritization of the small subset of sorted candidate variations and genes. We report a demonstrative case study that allowed to identify a new candidate gene

  20. Stabilitá microbiologica di Sparus aurata in rapporto al sistema di allevamento

    Directory of Open Access Journals (Sweden)

    A. De Donno

    2003-05-01

    Full Text Available

    I pesci, al momento della pesca, risultano più o meno inquinati in relazione alla qualità delle acque in cui vivono e al tipo di manipolazione che subiscono; tale contaminazione batterica oscilla tra 103ufc/cm2 di superficie corporea e tra 102-109 ufc/gr di intestino. Successivamente, si assiste ad una modificazione quali-quantitativa della microflora iniziale e molti batteri (spoilage flora partecipano attivamente al processo di deterioramento.

    Essenzialmente, la contaminazione microbica del pesce, determina processi proteolitici, sebbene, soprattutto nella fase iniziale, siano i composti azotati non proteici ad essere metabolizzati dai microrganismi. Si formano così composti volatili come trimetilammina, dimetilammina, ammoniaca, che impartiscono odori anomali e associati al deterioramento. Scopo del nostro lavoro è stato quello di quantificare, in campioni di orate (Sparus aurata provenienti da un allevamento di tipo intensivo (impianto a vasche e in quelle provenienti da un allevamento di tipo semintensivo, alcune specie batteriche coinvolte nei processi di deterioramento in condizioni di refrigerazione. Su campioni di pesce appena pescati (conservati e trasportati in ghiaccio, è stata eseguita una cinetica di crescita microbica (tempo 0, 3 e 6 giorni alla temperatura di 4°C su sezioni di pelle e muscolo, visceri e branchie. Sono stati valutati i seguenti parametri microbiologici: conta microbica totale, Pseudomonadaceae, Shewanella putrefaciens ed Enterobacteriaceae totali. Pur partendo da concentrazioni iniziali non significativamente diverse le orate provenienti da allevamento di tipo intensivo hanno evidenziato cariche microbiche più alte (superiori a 107ufc/g a partire dal 3° giorno di conservazione per tutti i parametri considerati.

    Le orate provenienti da allevamento semintensivo sono risultate quindi microbiologicamente più stabili rispetto a quelle provenienti da allevamento intensivo. Pseudomonas fluorescens

  1. Higgs and new physics at high energy

    CERN Document Server

    Solans, CA; The ATLAS collaboration

    2014-01-01

    The observation of a new particle in the search for the Standard Model (SM) Higgs boson at the LHC, reported by the ATLAS and CMS collab- orations, is a milestone in the quest to understand electroweak symmetry breaking. The evidence for a Higgs boson-like particle has been pub- lished at the level of 5 σ by both experiments after preliminary analysis of the data from the LHC Run-I. Precision measurements of the new particle are of critical importance. This document reviews the mass and spin mea- surement, the couplings scale factor measurements using a state-of-the-art framework and the limits on new physics derived from these results.

  2. UN MODELO DE SISTEMA COLABORATIVO SUPERVISADO PARA LA GESTIÓN DOCUMENTAL

    Directory of Open Access Journals (Sweden)

    Félix Oscar Fernández Peña* , Steve Willmott**, Alejandro Rosete Suárez*

    2008-02-01

    Full Text Available The development of ICT has created a gap between computing processes and the huge volume of available information. Institutions need tools for knowledge management in collaborative environments and these tools should guarantee certain level of quality of service. By other hand, Web services are to become in the industry standard for interoperability but they are far away of providing the required robustness level. This paper proposes to adapt the MAS principles of electronic contracting at supervising knowledge management processes for knowledge sharing using web services, and to apply the descriptive capacity of OWL, as a formal semantic language in order to improve the autonomy of underneath computing processes. A SupervIsed CoLlabOrative System model (SICLOS was defined –supervised from a global perspective, based on the semantic management of actions and resources. Dynamic processes control is improved and thereby, the knowledge management service. In this paper, the achieved results are discussed.

  3. FABLES IN THE AGORA: FROM ARISTOTLE TO THE CENTURY OF ENLIGHTENMENT

    Directory of Open Access Journals (Sweden)

    Márcia Seabra Neves

    2015-11-01

    Full Text Available Having been long established in western poetic tradition as a short composition of ethical intent, usually performed by anthropomorphized animals and conveying a rule of behavior, the fable has represented, ever since its origins, a key strategy of persuasion at the service of orators seeking to convince and influence an audience. Originally defined as a rhetorical genre and inevitably mirroring social and historical mutations, the fable as well as the moralities inferred from it have played varying functions and accomplished different goals in the course of centuries, so as to accommodate changing communicative needs. In this article, we seek to provide a critical and diachronic survey of the resonance of classical rhetoric in the definition of fable as a genre and examine its literary manifestations from Aristotle to the Enlightenment.

  4. In the gramaticalization limits. The evolution of encima (de que as speech marker

    Directory of Open Access Journals (Sweden)

    Mar Garachana Camarero

    2008-06-01

    Full Text Available The present paper describes the process of semantic subjectivization that Spanish encima ‘on top’ undergoes in its development from a prepositional phrase (en cima ‘on top’ to its extended uses as a discourse marker of addition, counterargumentation, and retort. Many changes implicated in the evolution of encima are typical of grammaticalization (semantic bleaching, development of procedural meanings, decategorization, and univerbation of the two original components of the PP. Nonetheless, the fact that the discoursive marker is able to come out of syntagmatic frame, reaching an orational and textual level, gaining in syntaxes mobility or even to occupy a speech turn by itself (¡Encima! is a serious objection when the time comes to include it into the gramaticalization, typically characterized basically by eliminating the gramaticalized term’s phonology and by the obligatorification and rigidification of the piece being gramaticalized.

  5. On Modern Family Decoration Pollution and Its Prevention Measures%论现代家庭装修的污染与其防治措施

    Institute of Scientific and Technical Information of China (English)

    马勇

    2014-01-01

    Because of the existence of different quality of dec-oration materials, a lot of decoration materials containing high harmful substances, seriously pol uting indoor air quality and being harmful to people’s health. How to effectively control the decoration of the indoor environment pol ution and to ind-oor environmental health, have caused extensive public ate-ntion.%由于装饰材料质量存在优劣差异,很多的装饰材料含有较高的有害物质,严重污染着室内空气质量,危害着人们的身体健康。如何有效控制装修对室内环境的污染、让室内环境环保健康,引起了公众的广泛关注和社会的高度重视。

  6. Theorizing plurivocal dialogue

    DEFF Research Database (Denmark)

    Bager, Ann

    2014-01-01

    and organizational discourse studies. These perspectives are elaborated on and implemented to frame, discuss and criticize the methodological basis of a case study which the author helped to initiate: a plurivocal, participatory research- based leadership forum involving professional leaders, researchers...... as the theoretical basis for the analysis. The article discusses how the Bakhtinian conception of dialogue offers a particular way of framing power, participation, meaning-making, knowledge pro- duction, and identity work in relation to the leadership forum and collab- orative research processes in general......- sider the messiness and tensions immanent in (organizational) interaction and the co-authoring of knowledge. This approach carries great potential for challenging crystallized knowledge forms and taken-for-granted ways of doing things (dispositifs and authoritative discourses)....

  7. Tradition as the genealogy of truth Hippocrates and Boerhaave between assimilation, variation and deviation.

    Science.gov (United States)

    Lo Presti, Roberto

    2010-01-01

    It is a matter of fact that rarely in the history of modern medicine has a physician gained such immediate and universal fame, and rarely has his contribution to medical knowledge and teaching been so promptly and almost unanimously recognized as a fundamental and, so to speak, a foundational one, as in the case of Boerhaave. In fact, the contribution he gave to provide medicine with a 'scientific' framework, and medical teaching with solid methodological bases, proved decisive. Otherwise, his appraisal of the Ancients (and especially of Hippocrates) and his will to refer to Hippocrates as a model for medical teaching were proverbial. Taking the corpus of his orations as a point of reference, I will thus try to elucidate 1) Boerhaave's main focus and theoretical goals; 2) the argumentative and methodological strategies he adopted in order to achieve them; 3) the position that the key-concept of 'tradition', the figure of Hippocrates, and the notion of 'Hippocratism' hold within these strategies.

  8. Popular Public Discourse at Speakers' Corner: Negotiating Cultural Identities in Interaction

    DEFF Research Database (Denmark)

    McIlvenny, Paul

    1996-01-01

    In this paper I examine how cultural identities are actively negotiated in popular debate at a multicultural public setting in London. Speakers at Speakers' Corner manage the local construction of group affiliation, audience response and argument in and through talk, within the context of ethnic......, religious and general topical 'soap-box' oration. However, audiences are not passive receivers of rhetorical messages. They are active negotiators of interpretations and alignments that may conflict with the speaker's and other audience members' orientations to prior talk. Speakers' Corner is a space...... in which participant 'citizens' in the public sphere can actively struggle over cultural representation and identities. Using transcribed examples of video data recorded at Speakers' Corner my paper will examine how cultural identity is invoked in the management of active participation. Audiences...

  9. New observations on the miniature of the vision of Saint Gregory of Nazianzus in Paris. GR. 510

    Directory of Open Access Journals (Sweden)

    Gavrilović Zaga

    2007-01-01

    Full Text Available The article deals with the iconography of the illustration of the Second Paschal Homily of St. Gregory of Nazianzus on fol. 285r of the Paris manuscript. It questions the identity of the woman saint represented on the right of St. Paraskeve in the lower register of the scene. Unlike that above St. Paraskeve, the inscription identifying this second woman saint is fragmentary and difficult to read, but it has been widely accepted that she is Saint Helena, mother of the Emperor Constantine the Great. On the basis of two other representations of Helena in the same manuscript and of the style of the inscription accompanying them, as well as taking into account the importance of the theological meaning expounded by St. Gregory in his oration, it is suggested that the second woman saint may be St. Kyriake.

  10. Roget's Thesaurus as a Lexical Resource for Natural Language Processing

    CERN Document Server

    Jarmasz, Mario

    2012-01-01

    WordNet proved that it is possible to construct a large-scale electronic lexical database on the principles of lexical semantics. It has been accepted and used extensively by computational linguists ever since it was released. Inspired by WordNet's success, we propose as an alternative a similar resource, based on the 1987 Penguin edition of Roget's Thesaurus of English Words and Phrases. Peter Mark Roget published his first Thesaurus over 150 years ago. Countless writers, orators and students of the English language have used it. Computational linguists have employed Roget's for almost 50 years in Natural Language Processing, however hesitated in accepting Roget's Thesaurus because a proper machine tractable version was not available. This dissertation presents an implementation of a machine-tractable version of the 1987 Penguin edition of Roget's Thesaurus - the first implementation of its kind to use an entire current edition. It explains the steps necessary for taking a machine-readable file and transform...

  11. Scattering Correction For Image Reconstruction In Flash Radiography

    Energy Technology Data Exchange (ETDEWEB)

    Cao, Liangzhi; Wang, Mengqi; Wu, Hongchun; Liu, Zhouyu; Cheng, Yuxiong; Zhang, Hongbo [Xi' an Jiaotong Univ., Xi' an (China)

    2013-08-15

    Scattered photons cause blurring and distortions in flash radiography, reducing the accuracy of image reconstruction significantly. The effect of the scattered photons is taken into account and an iterative deduction of the scattered photons is proposed to amend the scattering effect for image restoration. In order to deduct the scattering contribution, the flux of scattered photons is estimated as the sum of two components. The single scattered component is calculated accurately together with the uncollided flux along the characteristic ray, while the multiple scattered component is evaluated using correction coefficients pre-obtained from Monte Carlo simulations.The arbitrary geometry pretreatment and ray tracing are carried out based on the customization of AutoCAD. With the above model, an Iterative Procedure for image restORation code, IPOR, is developed. Numerical results demonstrate that the IPOR code is much more accurate than the direct reconstruction solution without scattering correction and it has a very high computational efficiency.

  12. 基于云计算的Moodle平台学导式教学设计与实现%Based on cloud computing platform Moodle learning guide teaching design and implementation

    Institute of Scientific and Technical Information of China (English)

    赵莉; 李君茹

    2016-01-01

    通过云计算提供的各种在线协作服务,构建基于Moodle在线协作平台,设计学导式教学,创建个性化、开放性、互动性的教学环境,结合《多媒体技术》课程进行基于云计算服务Moodle平台的学导式教学实践活动。%A variety of online collaboration services provided by cloud computing, Based on the use of Moodle online collab-oration platform, Design learning guide teaching, Create a personalized, open and interactive teaching environment, Combined with the《multimedia technology》course of cloud computing services platform Moodle teaching based on practice.

  13. ≫Estote quod videtis, et accipite quod estis≪: Eucharist in St Augustine

    Directory of Open Access Journals (Sweden)

    Dina D’Elia

    2011-12-01

    Full Text Available The paper addresses the writings of St Augustine of Hippo, thus marking the 1600th anniversary of the anti-Donatist synod held in Carthage and the start of Augustine’s anti-Pelagian argument in 411 AD. The focus is on two orations (Sermo 272 and 227, translated into Slovenian for the first time, which explain the significance of the Eucharist as a mystery of God’s unity and a sacrament of salvation. The contextualisation of their historical and theological backgrounds sheds light on the Donatist and Pelagian controversies, as well as on their implications for Augustine’s thought on the Eucharist from the ecclesiastic and soteriological perspectives. The basic concepts of his sacramental doctrine are defined by the descriptive method. The paper thus concisely confirms the impact of individual controversies on the development of Augustine’s theology, which has exercised a decisive influence on the history of dogmas and practices up to the present.

  14. Claudia Quinta (Pro Caelio 34 and an altar to Magna Mater

    Directory of Open Access Journals (Sweden)

    Eleanor Winsor Leach

    2010-11-01

    Full Text Available Among the items of sculpture from the Capitoline collection now housed in the Museum of the Power Station Montemartini is a marble relief altar of the Claudian Period (E. Simon's dating dedicated to the mater deorum and the navis salvia and depicting the arrival of the goddess Cybele at Rome by ship. The dedicator is one Claudia Syntyche and the sculpture alludes to the legends attached to a much honored woman of the Claudian family whom Cicero, in his oration pro Caelio brought on stage in a cameo appearance to bolster his case against the controversial contemporary woman Clodia Metelli as one of the accusers of his client M. Caelius Rufus. This paper will consider questions raised by the iconography of the altar with reference to the development of Claudia's legend in Roman mythology and subsequently ask who was this Claudia the dedicator and why did she choose Magna Mater for her vow?

  15. La función de las imágenes en la reflexión filosófica de Cicerón

    Directory of Open Access Journals (Sweden)

    Diony González

    2012-12-01

    Full Text Available The Greek rhetorical tradition and its development during the Hellenistic period allowed rhetoric in Rome to have a broader purpose, ceasing to be the source of creation of technical manuals with function and utility for a particular forensic activity. Cicero and, subsequently, Quintilian wrote a series of handbooks, rhetorical treatises, or literary dialogues with the purpose of establishing a complete theory of the new symbolic, political and persuasive role of the orator, not only through the creation of new rhetorical theories, but also of new frameworks for philosophical thought. This is the moment when rhetorical theory conceives the word as an image, and it is only through the process of representation that one can understand and construct a discourse about reality.

  16. An experiment with Saxon bowls

    Science.gov (United States)

    Greer, Allan; Kincanon, Eric

    2000-02-01

    To introduce our first-semester physics students to some basic analytic methods, we integrate a bit of history and a unique timing device into our lab. The story is that the Saxons placed a bowl with a hole in its bottom in water and used the time it took the bowl to submerge to limit orations. (A famous Greek prostitute also used such bowls to allocate her customer's time, an example we do not use in class.) We have our students find a relationship between the diameter of the hole and the time till submergence. Though the original Saxon bowls varied both in hole size and bowl size, for simplicity we vary only the size of the hole.

  17. THE HISTORY OF BUILDING THE NORTHERN FRATERNAL CELLS OF VIRGIN MARY ASSUMPTION MONASTERY IN TIKHVIN

    Directory of Open Access Journals (Sweden)

    Tatiana Nikolaevna PYATNITSKAYA

    2014-01-01

    Full Text Available The article is focused on the formation of one of the fra-ternal houses of the Virgin Mary Assumption Monastery in Tikhvin (Leningrad region, the volume-spatial compo-sition of which was developed during the second half of the 17th century. It describes the history of the complex origin around the Assumption Cathedral of the 16th cen-tury and Cell housing location in the wooden and stone ensembles. Comparing the archival documents and the data obtained as a result of field studies, were identified the initial planning and design features of the Nordic fraternal cells. The research identified brigades of Tikhvin masons of 1680-1690 who worked in the construction of the building. Fragments of the original architectural dec-orations and facade colors were found. The research also identified graphic reconstructions, giving an idea not only of the original appearance of the building, but also the history of its changes.

  18. 药用植物茴芹及其病害防治措施探讨%Discussion on Medicinal Plant Pimpinella anisum L. and Diseases Prevention

    Institute of Scientific and Technical Information of China (English)

    穆合塔尔·麦提图尔荪; 凯麦尔妮萨·艾合麦提托合提; 严军

    2016-01-01

    Pimpinella anisum L. was not only medicine,but also condiment. Starting from introducing the morpholog-ical characteristics of Pimpinella anisum L.,the cultivation techniques were elab-orated. The medicinal values of Pimpinella anisum L. were discussed. Moreover,the main disease and its con-trol methods were put forward.%茴芹既是中药材又是调味品。从介绍茴芹形态特征出发,阐述了其栽培技术,论述了茴芹药用价值,并详细介绍了主要病害及其防治方法。

  19. Dio Chrysostom in Exile

    DEFF Research Database (Denmark)

    Bekker-Nielsen, Tønnes; Hinge, George

    2015-01-01

    In the opening chapter of his thirty-sixth oration, Dio Chrysostom tells his listeners how in the course of a journey ‘through the lands of the Scythians to that of the Getae’, he stopped over in the city of Borysthenes (Olbia) ‘in the summer after my exile’ (τὸ θέρος … μετὰ τὴν φυγήν). Dio had b...... been exiled by Domitian, probably in a.d. 83 or 84; since his exile ended after the death of Domitian in September 96, it is generally accepted that his visit to Borysthenes took place in the summer of 97....

  20. Demographic Factors, Corporate Social Responsibility, Employee Engagement and Corporate Reputation: A Perspective From Hotel Industries In Indonesia

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Hotel as a hospitality industry should manage its reputation as a valuable asset for the business continuity. The hotel's reputation is built up by the employee's perceptions of treatment and sense of belonging and engagement of the hotel. The purpose of this study is to analyze employee's perceptions of corporate social responsibility (CSR) activities, employee engagement, and corporate reputation that have been undertaken by the hotel industry in Jakarta and how demographic factors influence these perceptions. The structure equation model (SEM) was implemented to find each variable influence. Samples were taken from hotel employees who work in five-star hotels in Jakarta with 221 respondents (response rate 78.9%). The results indicate that CSR activities significantly influence employee engagement and corporate reputation, and at the same time, employee engagement significantly influences cor0orate reputation.

  1. Environmental health needs and launching of an environmental health protection unit in Pakistan.

    Science.gov (United States)

    Khan, M Z A; Kazi, B M; Bile, K M; Magan, M; Nasir, J A

    2010-01-01

    Pakistan is seriously confronted by many complex and difficult environmental challenges related to air, water, soil, forests and food including issues such as climate change. The close link between environment and health is neither well understood nor appreciated. The annual cost of environmental degradation in Pakistan has been estimated to be around US $4.0 billion orat least 6% of the country's GDP. Up to 35% of the burden of disease is attributable to environmental hazards and risk factors and most of this burden is preventable. A systematic process for identifying environmental health needs and issues as well as the efforts made by the government of Pakistan and the World Health Organization in establishing and launching an environmental health protection unit are described. Also presented are the mission, functions, structure (operational and logistical) and technical requirements as well as sustainability aspects of the environmental health protection unit.

  2. 逻辑AI中的容变能力的研究%Elaboration Tolerance in Logical AI

    Institute of Scientific and Technical Information of China (English)

    朱建中; 戈也挺; 骆斌; 陈世福

    2003-01-01

    In this paper a survey of elaboration tolerance in logical AI is provided. John McCarthy views elaboration tolerance as the key property of any formalism that can represent information in the common sense informatic situa-tion. The goal of studying elaboration tolerance is finding a formalism for describing problems logically that is as elab-oration tolerant as natural language and the associated background knowledge. In the beginning, we introduce the missionaries and cannibals problem and its elaboration problems provided by John McCarthy as the test examples of studying elaboration tolerance. Then we introduce the study of elaboration tolerance from three aspects. First of all,the study of elaboration tolerance of the existing systems is introduced such as Causal Calculator and ABSFOL. Sec-ond the study of special elaboration is presented such as elaboration of actions. Last but not least a formal definition of elaboration toleration and evaluation tools is nrmvided.

  3. 语言习惯与视觉认知——巴克森德尔艺术史研究的一种模式

    Institute of Scientific and Technical Information of China (English)

    戴丹

    2011-01-01

    @@ 从某种程度而言,[Giotto and The Orators:Humanist observers of painting in Italy and the discovery of pictorial camposition 1350-1450]是英国文化史学家巴克森德尔[MichaelBaxandall]的一本无意之作.他从剑桥毕业后,1954年通过英国文化教育委员会[British Council]申请到了一笔去意大利留学的奖学金,这个项目的研究内容是意大利文艺复兴对文艺复兴时期英格兰的影响.

  4. Women who win with words: Deliverance via persuasive communication

    Directory of Open Access Journals (Sweden)

    R.G. Branch

    2003-08-01

    Full Text Available The Wise Woman of Abel Beth Maacah quells a rebellion (2 Sam. 20. Abigail, a beautiful and intelligent woman, rescues her household (1 Sam. 25. And the older sister of Moses, by tradition Miriam, saves her baby brother’s life (Ex. 2. These two women and a girl represent political saviours who facilitate the deliverance of a city, community, and an individual via persuasive words. As winners with words, these orators contribute dynamically to the biblical text by providing an alternative way of deliverance, one enabling it to come through a means other than the sword. Via perceptive persuasion, they guide those with whom they interact toward choosing life and the common good. This article takes a cross-disciplinary approach to the biblical text by looking at the persuasive communication techniques these two women and a girl employ so successfully.

  5. Suplemento al inventario de la fábula greco-latina. Épocas arcaica, clásica y helenística

    Directory of Open Access Journals (Sweden)

    Gert-Jan van Dijk

    1998-06-01

    Full Text Available In this article the author presents those fables occurring in Archaic, Classical, and Hellenistic Greek literature which can be added to F. R. Adrados' Inventario y documentación de la fábula greco-latina. These fables can be found in a great variety of other literary genres, viz. in the works of epic and lyric poets, tragedians and comedians, satyric playwrights and epigrammatists, rhetoricians, orators, historiographers, and philosophers. All of the passages that will be discussed are of intrinsic importance as they predate the versions extant in the fable collections. Moreover, many of the supplementary references given below are more or less significant variations on well-known fable themes, whereas others are actually unique in the ancient fable corpus.

  6. Determinación de los parámetros de funcionamiento y recurso residual medio de una bomba hidráulica

    OpenAIRE

    Luciano Pérez Sobrevilla; Pedro Paneque Rondón

    2004-01-01

    Como parte de las in ves tig acio nes que se llev an a cabo en la Un iversidad Autónoma Ch apingo de México , en el Departamen to de Ingeniería Mecánica Agrícola (DIMA) y en la Univ ersid ad Agraria de La Habana, en el Centro de Mecanización Agropecuaria (CEMA), dirigidas al desarrollo d e la Oleohidráulica, el trabajo tuvo como objetiv o, evaluar un a bomb a hidráulica de engranajes de desplazamientos 32 cm3 con aceite Elf Dis al HD 4/40 PLUS. El experimento fue desarrollado en el lab orator...

  7. 体育专业学生学习医疗救治的重要性%The Importance of Learning Medical Treatment by Sports Professional Students

    Institute of Scientific and Technical Information of China (English)

    张世刚

    2014-01-01

    近年来体育运动被越来越多的人重视,体育运动中各种运动损伤常常发生,有时因为救治的不及时影响到人们的学习、生活和健康,甚至造成终身的残疾。就应加强体育专业的学生学习医疗救治的知识进行阐述。%Sports injuries often occur in a variety of sports ,sometimes owing to not timely treatment , peo-ple's learning , life and health is often affected , and even life-long disability is caused .This paper elab-orate the of learning medical treatment knowledge of sports professional students should be enhanced .

  8. Alfabetizare politică prin lexic, instituții și modele teoretice englezești: România în a doua jumătate a secolului al XIX-lea (Political Literacy through English Lexic, Institutions and Models. Romania in the Second Hald of the 19th Century

    Directory of Open Access Journals (Sweden)

    Roxana PATRAȘ

    2015-12-01

    Full Text Available The present article endeavours to explore the political terminology of Anglo-Saxon origin, as well as to emphasize the influence of the Anglo-American political model through the analysis of some speeches delivered in various political contexts by the most appreciated Romanian orators of the 19th century. The assumption that, besides the interactions with French and German models, a third influence (the English, the British or the American may be taken into consideration has been already suggested by several historians’ research. However, our hypothesis is that the Anglo-Saxon model can be emphasized not only in the “archives” of immediate economic or diplomatic interests, but as a cultural „mediator” between the French culture’s “modelling influence” and the German culture’s “catalytic influence” (according to Lucian Blaga’s theories. The relationship between the beginning of the Romanian political civilization (the stage of political literacy and the Anglo-Saxon tradition shall be inquired from three perspectives: 1. As a step-by-step evolution; 2. As an ideal standard of political civilization; 3. As a mediation formula between opposite realities and principles (absolutism – democracy/ constitutional monarchy; centralisation – local autonomy/ federalism etc.. In the first part of the article, I propose a list of English words that are imported in the Romanian language of the 19th century and are put into circulation by the speeches delivered in the Romanian Parliament. In complementarity with the lexicographic analysis, I will emphasize the fragments where works by Edmund Burke, Benjamin Disraeli, William Ewart Gladstone, Thomas Babington Macauley, Thomas Hare, James Stuart Mill, Henry Wheaton and others are mentioned by the Romanian orators, and follow the track of their dissemination through either English originals or Romanian/ French translations.

  9. CoMFA, CoMSIA, and docking studies on thiolactone-class of potent anti-malarials: identification of essential structural features modulating anti-malarial activity.

    Science.gov (United States)

    Roy, Kuldeep K; Bhunia, Shome S; Saxena, Anil K

    2011-09-01

    The integrated ligand- and structure-based drug design techniques have been applied on a homogeneous dataset of thiolactone-class of potent anti-malarials, to explore the essential structural features for the inhibition of Plasmodium falciparum. Developed CoMFA (q(2) = 0.716) and CoMSIA (q(2) = 0.632) models well explained structure-activity variation in both the training (CoMFA R(2) = 0.948 & CoMSIA R(2) = 0.849) and test set (CoMFA R(2) (pred) = 0.789 & CoMSIA R(2) (pred) = 0.733) compounds. The docking and scoring of the most active compound 10 into the active site of high-resolution (2.35 Å) structure of FabB-TLM binary complex (PDB-ID: 1FJ4) indicated that thiolactone core of this compound forms bifurcated H-bonding with two catalytic residues His298 and His333, and its saturated decyl side group is stabilized by hydrophobic interactions with the residues of a small hydrophobic groove, illustrating that the active site architecture, including two catalytic histidines and a small hydrophobic groove, is vital for protein-ligand interaction. In particular, the length and flexibility of the side group attached to the position 5 of thiolactone have been observed to play a significant role in the interaction with FabB enzyme. These results present scope for rational design of thiolactone-class of compounds that could furnish improved anti-malarial activity.

  10. Isolation and Characterization of Unsaturated Fatty Acid Auxotrophs of Streptococcus pneumoniae and Streptococcus mutans▿

    Science.gov (United States)

    Altabe, Silvia; Lopez, Paloma; de Mendoza, Diego

    2007-01-01

    Unsaturated fatty acid (UFA) biosynthesis is essential for the maintenance of membrane structure and function in many groups of anaerobic bacteria. Like Escherichia coli, the human pathogen Streptococcus pneumoniae produces straight-chain saturated fatty acids (SFA) and monounsaturated fatty acids. In E. coli UFA synthesis requires the action of two gene products, the essential isomerase/dehydratase encoded by fabA and an elongation condensing enzyme encoded by fabB. S. pneumoniae lacks both genes and instead employs a single enzyme with only an isomerase function encoded by the fabM gene. In this paper we report the construction and characterization of an S. pneumoniae 708 fabM mutant. This mutant failed to grow in complex medium, and the defect was overcome by addition of UFAs to the growth medium. S. pneumoniae fabM mutants did not produce detectable levels of monounsaturated fatty acids as determined by gas chromatography-mass spectrometry and thin-layer chromatography analysis of the radiolabeled phospholipids. We also demonstrate that a fabM null mutant of the cariogenic organism Streptococcus mutants is a UFA auxotroph, indicating that FabM is the only enzyme involved in the control of membrane fluidity in streptococci. Finally we report that the fabN gene of Enterococcus faecalis, coding for a dehydratase/isomerase, complements the growth of S. pneumoniae fabM mutants. Taken together, these results suggest that FabM is a potential target for chemotherapeutic agents against streptococci and that S. pneumoniae UFA auxotrophs could help identify novel genes encoding enzymes involved in UFA biosynthesis. PMID:17827283

  11. Proteomics for Drug Resistance on the Food Chain? Multidrug-Resistant Escherichia coli Proteomes from Slaughtered Pigs.

    Science.gov (United States)

    Ramos, Sónia; Silva, Nuno; Hébraud, Michel; Santos, Hugo M; Nunes-Miranda, Júlio Dinis; Pinto, Luís; Pereira, José E; Capelo, José-Luis; Poeta, Patrícia; Igrejas, Gilberto

    2016-06-01

    Understanding global drug resistance demands an integrated vision, focusing on both human and veterinary medicine. Omics technologies offer new vistas to decipher mechanisms of drug resistance in the food chain. For example, Escherichia coli resistance to major antibiotics is increasing whereas multidrug resistance (MDR) strains are now commonly found in humans and animals. Little is known about the structural and metabolic changes in the cell that trigger resistance to antimicrobial agents. Proteomics is an emerging field that is used to advance our knowledge in global health and drug resistance in the food chain. In the present proteomic analysis, we offer an overview of the global protein expression of different MDR E. coli strains from fecal samples of pigs slaughtered for human consumption. A full proteomic survey of the drug-resistant strains SU60, SU62, SU76, and SU23, under normal growth conditions, was made by two-dimensional electrophoresis, identifying proteins by MALDI-TOF/MS. The proteomes of these four E. coli strains with different genetic profiles were compared in detail. Identical transport, stress response, or metabolic proteins were discovered in the four strains. Several of the identified proteins are essential in bacterial pathogenesis (GAPDH, LuxS, FKBPs), development of bacterial resistance (Omp's, TolC, GroEL, ClpB, or SOD), and potential antibacterial targets (FBPA, FabB, ACC's, or Fab1). Effective therapies against resistant bacteria are crucial and, to accomplish this, a comprehensive understanding of putative resistance mechanisms is essential. Moving forward, we suggest that multi-omics research will further improve our knowledge about bacterial growth and virulence on the food chain, especially under antibiotic stress.

  12. Effect of changes in the composition of cellular fatty acids on membrane fluidity of Rhodobacter sphaeroides.

    Science.gov (United States)

    Kim, Eui-Jin; Lee, Jeong K

    2015-02-01

    The cellular fatty acid composition is important for metabolic plasticity in Rhodobacter sphaeroides. We explored the effects of changing the cellular ratio of unsaturated fatty acids (UFAs) to saturated fatty acids (SFAs) in R. sphaeroides by overexpressing several key fatty acid biosynthetic enzymes through the use of expression plasmid pRK415. Bacteria containing the plasmid pRKfabI1 with the fabI1 gene that encodes enoyl-acyl carrier protein (ACP) reductase showed a reduction in the cellular UFA to SFA ratio from 4 (80% UFA) to 2 (65% UFA) and had decreased membrane fluidity and reduced cell growth. Additionally, the ratio of UFA to SFA of the chromatophore vesicles from pRKfabI1 -containing cells was similarly lowered, and the cell had decreased levels of light-harvesting complexes, but no change in intracytoplasmic membrane (ICM) content or photosynthetic (PS) gene expression. Both inhibition of enoyl- ACP reductase with diazaborine and addition of exogenous UFA restored membrane fluidity, cell growth, and the UFA to SFA ratio to wild-type levels in this strain. R. sphaeroides containing the pRKfabB plasmid with the fabB gene that encodes the enzyme β-ketoacyl-ACP synthase I exhibited an increased UFA to SFA ratio from 4 (80% UFA) to 9 (90% UFA), but showed no change in membrane fluidity or growth rate relative to control cells. Thus, membrane fluidity in R. sphaeroides remains fairly unchanged when membrane UFA levels are between 80% and 90%, whereas membrane fluidity, cell growth, and cellular composition are affected when UFA levels are below 80%.

  13. Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

    Science.gov (United States)

    Chapman, Nicola H; Nato, Alejandro Q; Bernier, Raphael; Ankenman, Katy; Sohi, Harkirat; Munson, Jeff; Patowary, Ashok; Archer, Marilyn; Blue, Elizabeth M; Webb, Sara Jane; Coon, Hilary; Raskind, Wendy H; Brkanac, Zoran; Wijsman, Ellen M

    2015-10-01

    Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders, characterized by impairment in communication and social interactions, and by repetitive behaviors. ASDs are highly heritable, and estimates of the number of risk loci range from hundreds to >1000. We considered 7 extended families (size 12-47 individuals), each with ≥3 individuals affected by ASD. All individuals were genotyped with dense SNP panels. A small subset of each family was typed with whole exome sequence (WES). We used a 3-step approach for variant identification. First, we used family-specific parametric linkage analysis of the SNP data to identify regions of interest. Second, we filtered variants in these regions based on frequency and function, obtaining exactly 200 candidates. Third, we compared two approaches to narrowing this list further. We used information from the SNP data to impute exome variant dosages into those without WES. We regressed affected status on variant allele dosage, using pedigree-based kinship matrices to account for relationships. The p value for the test of the null hypothesis that variant allele dosage is unrelated to phenotype was used to indicate strength of evidence supporting the variant. A cutoff of p = 0.05 gave 28 variants. As an alternative third filter, we required Mendelian inheritance in those with WES, resulting in 70 variants. The imputation- and association-based approach was effective. We identified four strong candidate genes for ASD (SEZ6L, HISPPD1, FEZF1, SAMD11), all of which have been previously implicated in other studies, or have a strong biological argument for their relevance.

  14. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

    Directory of Open Access Journals (Sweden)

    Amélie Bonnefond

    Full Text Available BACKGROUND: Maturity-onset of the young (MODY is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetically unexplained (MODY-X. Here, we aimed to use whole-exome sequencing (WES in a four-generation MODY-X family to identify a new susceptibility gene for MODY. METHODOLOGY: WES (Agilent-SureSelect capture/Illumina-GAIIx sequencing was performed in three affected and one non-affected relatives in the MODY-X family. We then performed a high-throughput multiplex genotyping (Illumina-GoldenGate assay of the putative causal mutations in the whole family and in 406 controls. A linkage analysis was also carried out. PRINCIPAL FINDINGS: By focusing on variants of interest (i.e. gains of stop codon, frameshift, non-synonymous and splice-site variants not reported in dbSNP130 present in the three affected relatives and not present in the control, we found 69 mutations. However, as WES was not uniform between samples, a total of 324 mutations had to be assessed in the whole family and in controls. Only one mutation (p.Glu227Lys in KCNJ11 co-segregated with diabetes in the family (with a LOD-score of 3.68. No KCNJ11 mutation was found in 25 other MODY-X unrelated subjects. CONCLUSIONS/SIGNIFICANCE: Beyond neonatal diabetes mellitus (NDM, KCNJ11 is also a MODY gene ('MODY13', confirming the wide spectrum of diabetes related phenotypes due to mutations in NDM genes (i.e. KCNJ11, ABCC8 and INS. Therefore, the molecular diagnosis of MODY should include KCNJ11 as affected carriers can be ideally treated with oral sulfonylureas.

  15. Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

    Directory of Open Access Journals (Sweden)

    Tom EJ Theunissen

    2016-11-01

    Full Text Available In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect, but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c.21delA. Based on the gene defect and clinical symptoms, the diagnosis Perrault syndrome type 3 (PRLTS3 was established. The patient’s brain-MRI revealed specific abnormalities of the subcortical and deep cerebral white matter and the middle blade of the corpus callosum, which was used to identify similar patients in the Amsterdam brain-MRI database, containing over 3000 unclassified leukoencephalopathy cases. In three unrelated patients with similar MRI abnormalities the CLPP gene was sequenced, and in two of them novel missense mutations were identified together with a large deletion that covered part of the CLPP gene on the other allele. The severe neurological and MRI-abnormalities in these young patients were due to the drastic impact of the CLPP mutations, correlating with the variation in clinical manifestations among previously reported patients. Our data shows that similarity in brain-MRI patterns can be used to identify novel PRLTS3 patients, especially during early disease stages, when only part of the disease manifestations are present. This seems especially applicable to the severely affected cases in which CLPP function is drastically affected and MRI abnormalities are pronounced.

  16. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

    Science.gov (United States)

    Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo

    2016-07-01

    Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array-Comparative Genomic Hybridization (aCGH) identified a de novo copy number variant (CNV) of uncertain significance. The phenotypes included microcephaly with brachycephaly and a distinctive facies in one proband, and hypotonia in the legs and mild ataxia in the other. WES allowed identification of a functionally relevant homozygous variant affecting a known disease gene for rare syndromic ID/DD in each proband, that is, c.1423C>T (p.Arg377*) in the Trafficking Protein Particle Complex 9 (TRAPPC9), and c.154T>C (p.Cys52Arg) in the Very Low Density Lipoprotein Receptor (VLDLR). Four mutations affecting TRAPPC9 have been previously reported, and the present finding further depicts this syndromic form of ID, which includes microcephaly with brachycephaly, corpus callosum hypoplasia, facial dysmorphism, and overweight. VLDLR-associated cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia and moderate-to-profound intellectual disability. The c.154T>C (p.Cys52Arg) mutation was associated with a very mild form of ataxia, mild intellectual disability, and cerebellar hypoplasia without cortical gyri simplification. In conclusion, we report two novel cases with rare causes of autosomal recessive ID, which document how interpreting de novo array-CGH variants represents a challenge in consanguineous families; as such, clinical WES should be considered in diagnostic testing. © 2016 Wiley Periodicals, Inc.

  17. Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.

    Science.gov (United States)

    Narula, Nupoor; Tester, David J; Paulmichl, Anna; Maleszewski, Joseph J; Ackerman, Michael J

    2015-04-01

    Annually, thousands of sudden deaths in individuals under 35 years remain unexplained following comprehensive medico-legal autopsy. Previously, post-mortem genetic analysis by Sanger sequencing of four major cardiac channelopathy genes revealed that approximately one-fourth of these autopsy-negative sudden unexplained death in the young (SUDY) cases harbored an underlying mutation. However, there are now over 100 sudden death-predisposing cardiac channelopathy-, cardiomyopathy-, and metabolic disorder-susceptibility genes. Here, we set out to determine whether post-mortem whole exome sequencing (WES) is an efficient strategy to detect ultra-rare, potentially pathogenic variants. We performed post-mortem WES and gene-specific analysis of 117 sudden death-susceptibility genes for 14 consecutively referred Caucasian SUDY victims (average age at death 17.4 ± 8.6 years) to identify putative SUDY-associated mutations. On average, each SUDY case had 12,758 ± 2,016 non-synonymous variants, of which 79 ± 15 localized to these 117 genes. Overall, eight ultra-rare variants (seven missense, one in-frame insertion) absent in three publically available exome databases were identified in six genes (three in TTN, and one each in CACNA1C, JPH2, MYH7, VCL, RYR2) in seven of 14 cases (50 %). Of the seven missense alterations, two (T171M-CACNA1C, I22160T-TTN) were predicted damaging by three independent in silico tools. Although WES and gene-specific surveillance is an efficient means to detect rare genetic variants that might underlie the pathogenic cause of death, accurate interpretation of each variant is challenging. Great restraint and caution must be exercised otherwise families may be informed prematurely and incorrectly that the root cause has been found.

  18. A pilot study on the effects of a team building process on the perception of work environment in an integrative hospital for neurological rehabilitation.

    Science.gov (United States)

    Ostermann, Thomas; Bertram, Mathias; Büssing, Arndt

    2010-03-09

    Neurological rehabilitation is one of the most care-intensive challenges in the health care system requiring specialist therapeutic and nursing knowledge. In this descriptive pilot study, we investigated the effects of a team building process on perceived work environment, self-ascribed professional competence, life satisfaction, and client satisfaction in an anthroposophic specialized hospital for neurological rehabilitation. The team-building process consisted of didactic instruction and training in problem-solving, teambuilding and constructive conflict resolution. Seventy seven staff members and 44 patients' relatives were asked to complete a survey that included the Work Environment Scale (WES-10), a Life Satisfaction Scale (BMLSS), the Conviction of Therapeutic Competency (CTC) scale and the Client Satisfaction Questionnaire (CSQ-8). To evaluate the outcome of the team building process, we analyzed changes over time in the WES-10 subscales. Additionally the interrelationship between the WES-10 subscales with other subscales and with sociodemographic parameters like age, gender was calculated by means of a bivariate correlation analysis. The team building process had a significant positive effect on perceived work environment in only one area. There was a significant improvement in the ward staffs' perception of their ability to constructively resolve conflicts 3 years after inception of the team building process than there was before inception. However, even in a unit that utilized holistic treatment and nursing in the care of severely disable patients, such care necessitating a very heavy workload, the measurements on the Self Realization, Life Satisfaction and Conviction of Therapeutic Competency scales remained high and unchanged over the three year time period of the study. Strategic interventions might be an option to improve interpersonal relationships and finally quality of patient care.

  19. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

    Science.gov (United States)

    Chao, Yu-Hsin; Robak, Laurie A; Xia, Fan; Koenig, Mary K; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bellen, Hugo J; Wangler, Michael F

    2016-05-01

    Defects in organelle dynamics underlie a number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for studying genetic changes that affect the cellular machinery. WES may uncover variants of unknown significance (VUS) that require functional validation. Previously, a pathogenic de novo variant in the middle domain of DNM1L (p.A395D) was identified in a single patient with a lethal defect of mitochondrial and peroxisomal fission. We identified two additional patients with infantile encephalopathy and partially overlapping clinical features, each with a novel VUS in the middle domain of DNM1L (p.G350R and p.E379K). To evaluate pathogenicity, we generated transgenic Drosophila expressing wild-type or variant DNM1L. We find that human wild-type DNM1L rescues the lethality as well as specific phenotypes associated with the loss of Drp1 in Drosophila. Neither the p.A395D variant nor the novel variant p.G350R rescue lethality or other phenotypes. Moreover, overexpression of p.A395D and p.G350R in Drosophila neurons, salivary gland and muscle strikingly altered peroxisomal and mitochondrial morphology. In contrast, the other novel variant (p.E379K) rescued lethality and did not affect organelle morphology, although it was associated with a subtle mitochondrial trafficking defect in an in vivo assay. Interestingly, the patient with the p.E379K variant also has a de novo VUS in pyruvate dehydrogenase 1 (PDHA1) affecting the same amino acid (G150) as another case of PDHA1 deficiency suggesting the PDHA1 variant may be pathogenic. In summary, detailed clinical evaluation and WES with functional studies in Drosophila can distinguish different functional consequences of newly-described DNM1L alleles. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  20. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

    Science.gov (United States)

    Evers, Christina; Staufner, Christian; Granzow, Martin; Paramasivam, Nagarajan; Hinderhofer, Katrin; Kaufmann, Lilian; Fischer, Christine; Thiel, Christian; Opladen, Thomas; Kotzaeridou, Urania; Wiemann, Stefan; Schlesner, Matthias; Eils, Roland; Kölker, Stefan; Bartram, Claus R; Hoffmann, Georg F; Moog, Ute

    2017-08-01

    Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias). In one family two coexisting autosomal recessive diseases caused by homozygous pathogenic variants in two different genes were diagnosed. In another family, a homozygous frameshift variant in STRADA was found to cause a severe NDD with early onset epilepsy, brain anomalies, hypotonia, heart defect, nephrocalcinosis, macrocephaly and distinctive facies so far designated as PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome. In 7 of the 21 families with a molecular diagnosis the pathogenic variants were only identified by clinical follow-up, manual reevaluation of the literature, a change of filter setting, and/or reconsideration of inheritance pattern. Most importantly, clinical implications included management changes in 8 cases and impact on family planning in 20 families with a molecular diagnosis. This study shows that reevaluation and follow-up can improve the diagnostic rate and that WES results have important implications on medical management and family planning. Furthermore, we could confirm STRADA as a gene associated with syndromic ID but find it questionable if the current designation as PMSE depicts the most important clinical features. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Prototype Evaluation of Sluiceway Aeration System Libby Dam, Kootenai River, Montana.

    Science.gov (United States)

    1984-03-01

    conducted in 1974 and a report of findings was published in 1976 (Hart and Tool 1976). With this information as reference material , WES conducted a...1 jI. AMV~V 5’ X r EkUPAENT r SNA Z’ RV4.RV2(L VU. V2) SPLITTER (TO CEN7m2 SLXV 1 ftOA rETSLUIRFm1r aula -4’ X 4’ VE-Nr RVA 4.4 65’ CEL 224025

  2. FAA (Federal Aviation Administration) Air Traffic Activity: Fiscal Year 1987

    Science.gov (United States)

    1987-09-30

    busiest facilities . - in the system. Historical tables are included where possible to show changes in growth. Hub designations are based on the number...PALM $EACH FL M 1 PS! ZIC. 647 347 133. - WEST PALU EACH CO PARK FL N I psi 71 0 71 0 .’ " NEST PLAINS MUNICIPAL NO N Z14’ 13 0313 0 WesIt POIt VA N... designated 116 by the Federal Aviation Administration. 0 L Large 1.00% M Medium 0.25% to 0.99% S Small 0.05% to 0.24% SA N Nonhub Less than 0.05% APPROACH

  3. Mechanisms of Mitochondrial Defects in Gulf War Syndrome

    Science.gov (United States)

    2013-10-01

    nears tative Wes plexes I- V . 0kDa subu lex III, nuc F1 Alpha s l membra ins. ine flux con orylation re have been t nd we wer rticipated, 3...factors iv. Three patients that were accepted into the study have changed their minds and decided not to participate at this time v . We will...C4= Complex V is includ espiratory c ntrol ratio. nalyzed. O analyze his have abnor ble to the lgia (47% = ormed cell ers required established

  4. Reassessment of liquefaction potential and estimation of earthquake- induced settlements at Paducah Gaseous Diffusion Plant, Paducah, Kentucky. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Sykora, D.W.; Yule, D.E.

    1996-04-01

    This report documents a reassessment of liquefaction potential and estimation of earthquake-induced settlements for the U.S. Department of Energy (DOE), Paducah Gaseous Diffusion Plant (PGDP), located southwest of Paducah, KY. The U.S. Army Engineer Waterways Experiment Station (WES) was authorized to conduct this study from FY91 to FY94 by the DOE, Oak Ridge Operations (ORO), Oak Ridge, TN, through Inter- Agency Agreement (IAG) No. DE-AI05-91OR21971. The study was conducted under the Gaseous Diffusion Plant Safety Analysis Report (GDP SAR) Program.

  5. Tunnel Cost-Estimating Methods.

    Science.gov (United States)

    1981-10-01

    8 ae1e 066 c LINING CALCULATES THE LINING COSTS AND THE FORMWORK COST FOR A 982928 ees C TUNNEL OR SHAFT SEGMENT 682636 0066...AD-AIO . 890 ARMY ENGINEER WATERWAYS EXPERIMENT STATION VICKSBURGETC F/B 13/13 TUNNEL COST-ESTIMATING METNDS(U) OCT 81 R D BENNETT UNCLASSIFIED WES...TR/L-81-101-3lEEEEEE EIIIl-IIIIIIIu IIIIEIIIEIIIIE llllEEEEllEEEI EEEEEEEEEIIII C EllTE-CHNICAL RGPORT GL-81-10 LI10 TUNNEL COST-ESTIMATING METHODS by

  6. Elections From Afar

    Institute of Scientific and Technical Information of China (English)

    JENNIFER; JETT

    2008-01-01

    Packed into a Beijing cafe on November 5, 6,000 miles and 16 hours away from the U. S. presidential election, the crowd excitedly began counting down the seconds until Wes Coast polls closed: 10,9,8 Earlier voter surveys had shown Barack Obama would win California, Oregon and Washington by wide margins. Together with the states he had already won, these states would give him more than enough electoral votes. As soon as the countdown ended, up flashed on the TV screen: "Barack Obama Elected President."

  7. Two-Dimensional Flow Modeling: Proceedings of the National U.S. Army Corps of Engineers-Sponsored Seminar on the Two-Dimensional Flow Modeling (1st), 7-9 July 1981,

    Science.gov (United States)

    1982-03-01

    Niederauer (Enerly, Inc.), Lee Butler (WES), Danny Fread (NOAA). Theodor Strelkoff (Hydraulic Enuineering), Robert MacArthur (HEC), Warren Mellema (4RD), Jaime ...Mississippi, Sabine , and Neches Rivers as shown in Figures 1 and 2. Work is on-going to gradually extend this service to other Gulf Coast rivers in Texas...MEXICO FIG. 2-HURRICANE STORM SURGE FORECASTING OF SABINE AND NECHES RIVERS 16 DAM -Z - PLAN VIEW- SEC. VIEW f-f FIG. 3- DAM-BREAK FLOOD ONTO A VERY WIDE

  8. Some Examples of the Application and Validation of the NUFT Subsurface Flow and Transport Code

    Energy Technology Data Exchange (ETDEWEB)

    Nitao, J J

    2001-08-01

    This report was written as partial fulfillment of a subcontract from DOD/DOE Strategic Environmental Research and Development Program (SERDP) as part of a project directed by the U.S. Army Engineer Research and Development Center, Waterways Experiment Station (WES), Vicksburg, Mississippi. The report documents examples of field validation of the Non-isothermal Unsaturated-saturated Flow and Transport model (NUFT) code for environmental remediation, with emphasis on soil vapor extraction, and describes some of the modifications needed to integrate the code into the DOD Groundwater Modeling System (GMS, 2000). Note that this report highlights only a subset of the full capabilities of the NUFT code.

  9. Scrotal absceso following an appendicitis

    Directory of Open Access Journals (Sweden)

    León Hernández Angélica,

    2014-07-01

    Full Text Available Appendicitis is the most common cause of acute abdomen in children; approximately one third of all cases present with appendiceal perforation at the time of surgery. Some of postoperative complications in this condition are abscesses. In unusual places such as the scrotum however, for an intraabdominal event to cause a scrotal abscess, fluid displacement requires the presence of a patent processus vaginalis. We report the case of a child with perforated appendix followed by a scrotum abscess owing to a permeable vaginal canal. The abscess was and the patient wes and treatment was performed based triple scheme antibiotics, evolving satisfactorily. Key words: appendicitis, postoperative complications, residual abscess, inguinal canal.

  10. Reliability Analysis of Large Commercial Vessel Engine Room Automation Systems. Volume 3. Appendices D-G

    Science.gov (United States)

    1982-11-01

    as lISA. 0.3292 Pressure LR Channel 200 Engine L.O. Gays low. Same as #15. Same as 2.1 item 110A. 0.3292 Pressure Lr Channel 21 Rocker L.O. Lose...SlT4 PlifUJPIPTUPI I11M1 2*6505S0 0.40 .11702 03 IqPkefiltv COSM ~IT~IA 0.500 *?7SS150-2 "WES(LOSA OP CuI SIOL/tnoiit CulL 246*093A4 4.eq .st31110-6 4UTO

  11. El Síndrome de "Burnout" o el desgaste profesional (II): Estudio empírico de los profesionales gallegos del área de Salud Mental.

    OpenAIRE

    E Álvarez Gallego; Luis Fernández Ríos

    1991-01-01

    Este trabajo supone una aproximación empírica al síndrome de "Burnout". Para ello se ha tomado un grupo de profesionales gallegos del área de Salud Mental. Los instrumentos utilizados para operativizar las variables han sido, el Maslach Burnout Inventory (M.B.I.) de Maslach and Jackson para la medición del "desgaste profesional" y la Escala de Clima Social en el Trabajo (W.E.S.) de R.H. Moos. Los resultados muestran la presencia de un considerable cansancio emocional como resultado del contex...

  12. Solitary Wave Generation Dynamics at Luzon Strait

    Science.gov (United States)

    2009-08-27

    ð2LÞ for the wes- tern stratification are close to those for case 1 shown in Fig. 21(b). Comparisons of weakly nonlinear KdV with extended KdV , Miy...and Camasa, 1999 exhibit less decrease in wavelength versus amplitude relative to KdV or extended KdV . KdV and extended KdV models exhibit a decrease...as a function of amplitude between the extended KdV and nonlinear models can be as large as 50% less for extended KdV Brandt et al., 1997. 5

  13. Earthquake Generated SH Waves in the Near Field and Near-Regional Field.

    Science.gov (United States)

    1977-08-01

    Don C. Banks, Chief, Engineering Geology and Rock Me- chanics Division. COL John L. Cannon , CE, was Commander and Director of WES; Mr. F. R. Brown...18 ........ *. . • «•• j^i ..... i n •• . . • .. .-,,.,,-....„ . r"r*"’—•"" use of a Gauss -Laguerre Integration rule if f(i...r.w) does not oscillate too fast. After a change of variable and application of the Gauss - Laguerre integration rule, Equation 25 Is approximated

  14. Mathematical Model of Estuarial Sediment Transport.

    Science.gov (United States)

    1977-10-01

    CANNON Colonel, Corps of Engineers Commander and Director KtBSSOU w __ mit Kg MKMontea WSItf. lot« I G j i IT - MfTUUTIM/MMUISLIT! OODO Mtt...Effects Laboratory. COL G. H. Hilt, CE, and COL J. L. Cannon , CE, were Directors of WES during the conduct of this study and preparation of this report...Each term in the relationships for the various arrays is integrated numerically using the Gauss -Legendre’ scheme, i.e., 1 1 \\S f(£, n) d£dn -1-1 m=l

  15. Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

    Science.gov (United States)

    Silvestri, Valentina; Zelli, Veronica; Valentini, Virginia; Rizzolo, Piera; Navazio, Anna Sara; Coppa, Anna; Agata, Simona; Oliani, Cristina; Barana, Daniela; Castrignanò, Tiziana; Viel, Alessandra; Russo, Antonio; Tibiletti, Maria Grazia; Zanna, Ines; Masala, Giovanna; Cortesi, Laura; Manoukian, Siranoush; Azzollini, Jacopo; Peissel, Bernard; Bonanni, Bernardo; Peterlongo, Paolo; Radice, Paolo; Palli, Domenico; Giannini, Giuseppe; Chillemi, Giovanni; Montagna, Marco; Ottini, Laura

    2017-01-01

    Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases. Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES. Targeted gene sequencing for the validation of WES results was performed for 48 high-risk, BRCA1/2 mutation-negative MBC cases from an Italian multicenter study of MBC. A case-control series of 433 BRCA1/2 mutation-negative MBC and female breast cancer (FBC) cases and 849 male and female controls was included in the study. WES in the family identified the partner and localizer of BRCA2 (PALB2) c.419delA truncating mutation carried by the proband, her father, and her paternal uncle (all affected with BC) and the N-acetyltransferase 1 (NAT1) c.97C>T nonsense mutation carried by the proband's maternal aunt. Targeted PALB2 sequencing detected the c.1984A>T nonsense mutation in 1 of the 48 BRCA1/2 mutation-negative MBC cases. NAT1 c.97C>T was not found in the case-control series. These results add strength to the evidence showing that PALB2 is involved in BC risk for both sexes and indicate that consideration should be given to clinical testing of PALB2 for BRCA1/2 mutation-negative families with multiple MBC and FBC cases. Cancer 2017;123:210-218. © 2016 American Cancer Society. © 2016 American Cancer Society.

  16. Comparison of Two Watch Schedules for Personnel at the White House Military Office President’s Emergency Operations Center

    Science.gov (United States)

    2015-01-01

    against polysomnographic results for detecting sleep/ wake patterns ( Meltzer , Walsh, Traylor, & Wes- tin, 2012; Rupp & Balkin, 2011). Participants were...using six subscales: Anger-Hostility (range 0 to 48, 12 items,), Confusion-Bewilderment (range 0 to 28, 7 items), Depression (range 0 to 60, 15 items...1, 13) 4.83 ± 2.92 (2, 12) .006 Depression 6.46 ± 8.89 (0, 30) 3.31 ± 4.89 (0, 15) 1.58 ± 2.68 (0, 8) .037 Anger-Hostility 8.46 ± 7.10 (1, 25) 5.31

  17. Comparação de softwares para análise de dados de levantamentos complexos

    Directory of Open Access Journals (Sweden)

    Maria Helena de Sousa

    2000-12-01

    Full Text Available OBJETIVO: Comparar "softwares" específicos para análise de dados de levantamentos amostrais complexos, em relação às características: facilidade de aplicação, eficiência computacional e exatidão dos resultados. MÉTODOS: Utilizaram-se dados secundários da Pesquisa Nacional sobre Demografia e Saúde, de 1996, cuja população-alvo foram as mulheres de 15 a 49 anos de idade, pertencentes a uma subamostra probabilística selecionada em dois estágios, estratificada, com probabilidade proporcional ao tamanho no primeiro estágio. Foram selecionadas da subamostra as regiões Norte e Centro-oeste do País. Os parâmetros analisados foram: a média, para a variável idade, e a proporção, para cinco outras variáveis qualitativas, utilizando os "softwares" Epi Info, Stata e WesVarPC. RESULTADOS: Os programas apresentam duas opções em comum para importação de arquivos: o dBASE e arquivos tipo texto. O número de passos anteriores à execução das análises foram 21, 11 e 9, respectivamente para o Epi Info, Stata e WesVarPC. A eficiência computacional foi alta em todos eles, inferior a três segundos. Os erros padrão estimados utilizando-se o Epi Info e o Stata foram os mesmos, com aproximação até a terceira casa decimal; os do WesVarPC foram, em geral, superiores. CONCLUSÕES: O Epi Info é o mais limitado em termos das análises disponíveis, porém ele é simples de usar e gratuito. O Stata e o WesVarPC são bem mais completos nos recursos de análises, porém há a desvantagem do custo. A escolha do programa dependerá principalmente das necessidades específicas do usuário.

  18. Development of Control Structure for Hybrid Wind Generators with Active Power Capability

    Directory of Open Access Journals (Sweden)

    Mehdi Niroomand

    2014-01-01

    Full Text Available A hierarchical control structure is proposed for hybrid energy systems (HES which consist of wind energy system (WES and energy storage system (ESS. The proposed multilevel control structure consists of four blocks: reference generation and mode select, power balancing, control algorithms, and switching control blocks. A high performance power management strategy is used for the system. Also, the proposed system is analyzed as an active power filter (APF with ability to control the voltage, to compensate the harmonics, and to deliver active power. The HES is designed with parallel DC coupled structure. Simulation results are shown for verification of the theoretical analysis.

  19. Evaluation of a pilot healthy eating intervention in restaurants and food stores of a rural community: a randomized community trial.

    Science.gov (United States)

    Martínez-Donate, Ana P; Riggall, Ann Josie; Meinen, Amy M; Malecki, Kristen; Escaron, Anne L; Hall, Bev; Menzies, Anne; Garske, Gary; Nieto, F Javier; Nitzke, Susan

    2015-02-12

    Research suggests that the food environment influences individual eating practices. To date, little is known about effective interventions to improve the food environment of restaurants and food stores and promote healthy eating in rural communities. We tested "Waupaca Eating Smart " (WES), a pilot intervention to improve the food environment and promote healthy eating in restaurants and supermarkets of a rural community. WES focused on labeling, promoting, and increasing the availability of healthy foods. We conducted a randomized community trial, with two Midwestern U.S. communities randomly assigned to serve as intervention or control site. We collected process and outcome data using baseline and posttest owner and customer surveys and direct observation methods. The RE-AIM framework was used to guide the evaluation and organize the results. Seven of nine restaurants and two of three food stores invited to participate in WES adopted the intervention. On a 0-4 scale, the average level of satisfaction with WES was 3.14 (SD=0.69) for restaurant managers and 3 (SD=0.0) for store managers. On average, 6.3 (SD=1.1) out of 10 possible intervention activities were implemented in restaurants and 9.0 (SD=0.0) out of 12 possible activities were implemented in food stores. One month after the end of the pilot implementation period, 5.4 (SD=1.6) and 7.5 (SD=0.7) activities were still in place at restaurants and food stores, respectively. The intervention reached 60% of customers in participating food outlets. Restaurant food environment scores improved from 13.4 to 24.1 (p customer behaviors were observed after a 10-month implementation period. The intervention achieved high levels of reach, adoption, implementation, and maintenance, suggesting the feasibility and acceptability of restaurant-and food store-based interventions in rural communities. Pilot outcome data indicated very modest levels of effectiveness, but additional research adequately powered to test the impact

  20. Storage of Residual Fuel Oil in Underground Unlined Rock Caverns.

    Science.gov (United States)

    1980-12-01

    Francaise des Petroles BP, Elf Union, Shell Francaise, and Compagnie Francaise de Raffinage (Total). The company and its subsidiaries were formed with...DEC 80 D C BANKS UNCLASSIFIED WES/NP/S4.-8O-19 ti. LE VEL MISCELLANEOUS PAPER GL-80-19 31 STORAGE OF RESIDUAL FUEL OIL IN UNDERGROUND UNLINED ROCK...Ruimaia.~ indl a riiirI( le ol Air in1 wi r’ hve en coIit’Icted to enc1ouraige muiliriershnpl I[I the i 5kRM. 1) By Innf t-Ii .fi’ I ’I.]%- I "W

  1. Dopluise (Hemiptera: Coccoidea geassosieer met die wipstertmier, Crematogaster peringueyi Emery (Hymenoptera: Formicidae

    Directory of Open Access Journals (Sweden)

    Johannes H. Giliomee

    2015-02-01

    Full Text Available Neste van die wipstertmier, Crematogaster peringueyi (Hymenoptera: Formicidae, is op verskeie plekke langs die kus van die Wes-Kaap versamel. Die doel was om vas te stel watter dopluisagtiges (Hemiptera: Coccoidea in die neste in assosiasie met hierdie miere leef. Dopluise van drie families, naamlik die Pseudococcidae (witluise, Coccidae (sagtedopluise en Kerriidae (lakdopluise is in die neste gevind, almal bekend daarvoor dat hulle heuningdou afskei. Hierdie mutualistiese verhouding tussen die miere en dopluise, bekend as mirmekofilie, is fakultatief van aard. Die wipstertmier blyk ook nie spesifiek te wees wat betref die plant waarop hulle nes maak nie.

  2. Environmental Impact Research Program. Half-Cuts. Section 5.3.2, US Army Corps of Engineers Wildlife Resources Management Manual.

    Science.gov (United States)

    1986-07-01

    HS ENYIR SIFE JL SEE ETALJUL 86 WES/TR/EL-86-14 F/G 616 U a111 1.0 L45 2 8 2. 11111 11111266 MCRCCIOPY RESOLUTION TESi NAPON’ HRAI 01 WANTDAPn Ij i 1...TERMS (Continued). Habitat management Quail management Bobwhite quail (Colinus virginianus) Wildlife management Management practices and techniques ,u...referred to as top-cutting, top-pruning, or Cut-and-bend. The desired result is a living brush pile that can function as shelter for quail and other small

  3. The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

    Science.gov (United States)

    Shamriz, O; Shaag, A; Yaacov, B; NaserEddin, A; Weintraub, M; Elpeleg, O; Stepensky, P

    2017-07-01

    Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). We report these patients, describe the mutations and review the current literature. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Relación entre el clima organizacional y la satisfacción laboral del personal de salud en el Centro de Salud Ciudad Nueva en el año 2007

    OpenAIRE

    Yapo Laura, Mónica

    2011-01-01

    El objetivo del estudio fue determinar la relación entre clima organizacional y la satisfacción laboral del personal de salud en el centro de salud Ciudad Nueva en el año 2007. Se realizó un estudio no experimental, prospectivo, transversal, correlacional causal en el que participaron 59 trabajadores del centro de salud de Ciudad Nueva de Tacna. La variable de estudio clima organizacional se midió con la Escala para Evaluación de Clima Organizacional (WES Work Environment Scales) y la ...

  5. Military Hydrology. Report 15. The Seismic Refraction Compression-Shear Wave Velocity Ratio as an Indicator of Shallow Water Tables: A Field Test,

    Science.gov (United States)

    1987-11-01

    Township 40N, on the wes.ern edge of the San Luis Valley in Rio Grande County (Figure 2). The San Luis Valley is at the northern end of the Rio Grande Rift...and is bounded on the east by the Sangre de Cristos, which are fault block mountains, and on the west by vol- canic hills and ridges. The valley is...to the west, specifically in Section 2, Range 4E, Township 40N, in Rio Grande County, Colorado (Figure 3). Area 2 consists of a thin soil layer over

  6. Reply: Is Kappaphycus alvarezii heading towards marine bioinvasion ?

    Digital Repository Service at National Institute of Oceanography (India)

    Verlecar, X.N.; Pereira, N.

    ture. The Indian Coast Guard , Port Blair reported emission of smoke from the vo l cano on 28 May 2005. On 13 June, a team of geologists from the Ge o- logical Survey of India studied the nature and style of eruption and sa m p led the lava... of an amphithe a ter, a summit with a height of ca. 1000 ft above msl , tru n cated summit marks the pre s ence of a crater, emission of a thin co l umn of smoke rises into the air and basaltic lavas flo w ing into the sea through breach on the wes...

  7. Helix: A Self-Regenerative Architecture for the Incorruptible Enterprise

    Science.gov (United States)

    2012-11-13

    debugging   remains   a   largely  manual   process.   The   collaboration   between  Wes   Weimer...using  structural  differencing  algorithms  and   delta   debugging .  We  recently  conducted  a  systematic  evaluation  105...Noncespaces  to  static  content  processed  through  a  popular   PHP   template  engine.  We  show   that

  8. Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

    Directory of Open Access Journals (Sweden)

    Soo Min Han

    Full Text Available Familial hypercholesterolemia (FH is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole-exome sequencing (WES analysis, we confirmed that the 3 known FH-related genes accounted for genetic causes in 23 patients (33.3%. A substantial portion of the mutations (19 of 23 patients, 82.6% resulted from 17 mutations and 2 copy number deletions in LDLR gene. Two mutations each in the APOB and PCSK9 genes were verified. Of these anomalies, two frameshift deletions in LDLR and one mutation in PCSK9 were identified as novel causative mutations. In particular, one novel mutation and copy number deletion were validated by co-segregation in their relatives. This study confirmed the utility of genetic diagnosis of FH through WES.

  9. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

    Science.gov (United States)

    Polfus, Linda M; Boerwinkle, Eric; Gibbs, Richard A; Metcalf, Ginger; Muzny, Donna; Veeraraghavan, Narayanan; Grove, Megan; Shete, Sanjay; Wallace, Stephanie; Milewicz, Dianna; Hanchard, Neil; Lupski, James R; Hashmi, Syed Shahrukh; Gupta-Malhotra, Monesha

    2016-11-01

    To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations. Drawing upon clinical presentation, 27 genes were selected evidenced to cause monogenic hypertension and matched to the gene-based results. This resulted in the identification of a stop-gain mutation in an epithelial sodium channel (ENaC), SCNN1B, an established Liddle syndrome gene, shared by the child and her father. Interestingly, the father also harbored a missense mutation (p.Trp552Arg) in the α-subunit of the ENaC trimer, SCNN1A, possibly pointing to pseudohypoaldosteronism type I. This case is unique in that we present the early-onset disease and treatment response caused by a canonical stop-gain mutation (p.Arg566*) as well as ENaC digenic hits in the father, emphasizing the utility of WES informing precision medicine.

  10. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

    Science.gov (United States)

    Rai, Ekta; Mahajan, Ankit; Kumar, Parvinder; Angural, Arshia; Dhar, Manoj K; Razdan, Sushil; Thangaraj, Kumarasamy; Wise, Carol A; Ikegawa, Shiro; Pandita, Kamal Kishore; Sharma, Swarkar

    2016-01-01

    We report identification and genetic characterization of a rare skeletal disorder that remained unidentified for decades in a village of Jammu and Kashmir, India. The population residing in this region is highly consanguineous and a lack of understanding of the disorder has hindered clinical management and genetic counseling for the many affected individuals in the region. We collected familial information and identified two large extended multiplex pedigrees displaying apparent autosomal recessive inheritance of an uncharacterized skeletal dysplasia. Whole exome sequencing (WES) in members of one pedigree revealed a rare mutation in WISP3:c.156C > A (NP_003871.1:p.Cys52Ter), that perfectly segregated with the disease in the family. To our surprise, Sanger sequencing the WISP3 gene in the second family identified a distinct, novel splice site mutation c.643 + 1G > A, that perfectly segregated with the disease. Combining our next generation sequencing data with careful clinical documentation (familial histories, genetic data, clinical and radiological findings), we have diagnosed the families with Progressive Pseudorheumatoid Dysplasia (PPD). Our results underscore the utility of WES in arriving at definitive diagnoses for rare skeletal dysplasias. This genetic characterization will aid in genetic counseling and management, critically required to curb this rare disorder in the families.

  11. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

    Directory of Open Access Journals (Sweden)

    Jinxin Li

    2015-06-01

    Full Text Available Paramyotonia congenita (PC is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.

  12. Making headway with genetic diagnostics of intellectual disabilities.

    Science.gov (United States)

    Willemsen, M H; Kleefstra, T

    2014-02-01

    Until recently, the cause of intellectual disability (ID) remained unexplained in at least 50% of affected individuals. Recent advances in genetic technologies led to great new opportunities to elucidate genetic defects implicated in ID. The introduction of genome-wide technologies that are able to detect small chromosomal copy number variations led to the identification of several microdeletion/duplication syndromes and to the subsequent identification of single causative genes. By the recent implementation of whole exome sequencing (WES) in research and diagnostics, with the potential to identify disease causing variants throughout the human exome at the base-pair level, a new revolution has started. Several studies showed that WES is effective in the identification of ID genes. Here we provide an historical overview of the advances in diagnostics of ID and illustrate the high diagnostic potential of current technologies by presenting the diagnostic survey that we performed in a series of 253 individuals with previously unexplained ID. This is the first study that systematically evaluated the diagnostic yield of the currently available and rapidly developing genetic diagnostic arsenal. The results of our study indicate that application of present-day genetic diagnostic technologies lead to a significant increase in the number of patients that can be diagnosed. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.

    Directory of Open Access Journals (Sweden)

    Mariam Ibáñez

    Full Text Available Preliminary Acute Promyelocytic Leukemia (APL whole exome sequencing (WES studies have identified a huge number of somatic mutations affecting more than a hundred different genes mainly in a non-recurrent manner, suggesting that APL is a heterogeneous disease with secondary relevant changes not yet defined. To extend our knowledge of subtle genetic alterations involved in APL that might cooperate with PML/RARA in the leukemogenic process, we performed a comprehensive analysis of somatic mutations in APL combining WES with sequencing of a custom panel of targeted genes by next-generation sequencing. To select a reduced subset of high confidence candidate driver genes, further in silico analysis were carried out. After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11 with a strong potential of being involved in APL pathogenesis. Our network analysis of multiple mutations provides a reliable approach to prioritize genes for additional analysis, improving our knowledge of the leukemogenesis interactome. Additionally, we have defined a functional module in the interactome of APL. The hypothesis is that the number, or the specific combinations, of mutations harbored in each patient might not be as important as the disturbance caused in biological key functions, triggered by several not necessarily recurrent mutations.

  14. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.

    Science.gov (United States)

    Sanderson, Saskia C; Linderman, Michael D; Suckiel, Sabrina A; Diaz, George A; Zinberg, Randi E; Ferryman, Kadija; Wasserstein, Melissa; Kasarskis, Andrew; Schadt, Eric E

    2016-01-01

    Whole exome/genome sequencing (WES/WGS) is increasingly offered to ostensibly healthy individuals. Understanding the motivations and concerns of research participants seeking out personal WGS and their preferences regarding return-of-results and data sharing will help optimize protocols for WES/WGS. Baseline interviews including both qualitative and quantitative components were conducted with research participants (n=35) in the HealthSeq project, a longitudinal cohort study of individuals receiving personal WGS results. Data sharing preferences were recorded during informed consent. In the qualitative interview component, the dominant motivations that emerged were obtaining personal disease risk information, satisfying curiosity, contributing to research, self-exploration and interest in ancestry, and the dominant concern was the potential psychological impact of the results. In the quantitative component, 57% endorsed concerns about privacy. Most wanted to receive all personal WGS results (94%) and their raw data (89%); a third (37%) consented to having their data shared to the Database of Genotypes and Phenotypes (dbGaP). Early adopters of personal WGS in the HealthSeq project express a variety of health- and non-health-related motivations. Almost all want all available findings, while also expressing concerns about the psychological impact and privacy of their results.

  15. Whole-Exome Sequencing Reveals an M268T Mutation in the Angiotensinogen Gene of Four Unrelated Renal Failure Patients from the Hail Region of Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Nuglozeh Edem

    2017-06-01

    Full Text Available Aims: Chronic kidney disease and renal failure are major health concerns in Saudi Arabia, especially in the Hail region. These diseases are commonly coupled with hypertension and hypercholesterolemia. Genetic factors strongly contribute to them. This study was undertaken in an effort to identify genetic variations that might contribute to renal failure in the Hail population. Methods: We performed Whole Exome Sequencing (WES on genomic DNA of four unrelated Hail patients afflicted by renal failure. Exonic variations located in genes known to be implicated the disease were selected and validated by Sanger sequencing. Results: In all four patients, we identified a c.C803T transition in exon 2 of the angiotensinogen gene (AGT, causing an M268T amino acid substitution in the protein. All four patients were homozygous for T268 allele. Conclusion: AGT is implicated in blood pressure regulation; it contributes to normal kidney function. The M268T AGT mutation has been known to be associated with hypertension and kidney disease. Whether or not it is a determinant of the kidney failure of our patients could be established if family studies show segregation of the mutant allele with the disease. This study illustrates how WES can be used to identify candidate genetic variations for inherited kidney diseases.

  16. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    Yong Mong Bee

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by in silico analysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS.

  17. Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

    Science.gov (United States)

    Kurth, Ingo; Baumgartner, Manuela; Schabhüttl, Maria; Tomni, Cecilia; Windhager, Reinhard; Strom, Tim M; Wieland, Thomas; Gremel, Kurt; Auer-Grumbach, Michaela

    2016-09-01

    Congenital insensitivity to pain and anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by recurrent episodes of unexplained high fever, loss of pain perception and temperature sensation, absent sweating, repeated traumatic and thermal injuries, and mild mental retardation. After exclusion of obviously pathogenic mutations in NTRK1, the most common cause of CIPA, whole exome sequencing (WES) was carried out in a CIPA patient with unrelated parents. No mutations in known HSAN genes were identified. However, filtering for genes carrying two rare sequence variations detected 13 homozygous single nucleotide variants (SNV), all being located on chromosome 1. Further analysis strongly suggested that this finding might be best explained by uniparental disomy of chromosome 1. Because NTRK1 is also located on chromosome 1, we re-evaluated WES data and detected a novel intronic sequence variation at position c.2188-12 C>A, homozygously because of uniparental disomy. Subsequent analysis of NTRK1 transcripts in peripheral blood cells of the patient revealed an influence of the variant on mRNA splicing. The C>A transversion generated a novel splice-site, which led to the incorporation of 10 intronic bases into the NTRK1 mRNA and consequently to a non-functional gene product. © 2016 Wiley Periodicals, Inc.

  18. Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient

    Science.gov (United States)

    Alaei, Mohammad Reza; Talebi, Saeed; Ghofrani, Mohammad; Taghizadeh, Mohsen; Keramatipour, Mohammad

    2016-01-01

    Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a generalized hypertonia and regression of all developmental milestones. Based on the advantages of next-generation sequencing (NGS), whole exome sequencing (WES) was requested. The functional significance of variants was evaluated by NGS-specific prediction servers. Sanger sequencing was used for segregation analysis in the family. Results: There was no specific sign in the clinical and paraclinical investigations of the patient to establish a conclusive clinical diagnosis. WES detected a known homozygous nonsense mutation in BSCL2 (NM_001122955.3:c. 985C>T; p.Arg329*). The variant is segregating in the pedigree with an autosomal recessive pattern. Conclusion: Exome sequencing is a robust method for identifying the candidate gene variants in Mendelian traits. PMID:27452399

  19. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

    Science.gov (United States)

    Rea, Gillian; Homfray, Tessa; Till, Jan; Roses-Noguer, Ferran; Buchan, Rachel J.; Wilkinson, Sam; Wilk, Alicja; Walsh, Roddy; John, Shibu; McKee, Shane; Stewart, Fiona J.; Murday, Victoria; Taylor, Robert W.; Ashworth, Michael; Baksi, A. John; Daubeney, Piers; Prasad, Sanjay; Barton, Paul J.R.; Cook, Stuart A.; Ware, James S.

    2017-01-01

    Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related). PMID:28050600

  20. Perceived levels of burnout of Veterans Administration therapeutic recreation personnel.

    Science.gov (United States)

    Wade-Campbell, K N; Anderson, S C

    1987-01-01

    This study investigated the relationship between work-related variables and perceived levels of burnout of therapeutic recreation personnel who work with long-term psychiatric patients in Veterans Administration hospitals. Subjects completed a three-part instrument composed of a demographic questionnaire, the Maslach Burnout Inventory and the Work Environment Scale. Of the 511 subjects surveyed, 287 (56%) responded with usable questionnaires. The demographic, job- and profession-related variables were found to be significantly related to burnout. The eta values were somewhat low. The WES variables accounted for 20.9% of the variance in the burnout measures. The WES variables accounted for 20.9% of the variance in the burnout measures. The most salient relationships emerged between the emotional exhaustion and the depersonalization subscales and clarity, supervisor support, involvement, work pressure, autonomy, innovation, peer cohesion, task orientation and physical comfort. In comparison with other groups of human service professionals, therapeutic recreation personnel experienced low levels of emotional exhaustion, moderate levels of depersonalization, and somewhat lower levels of personal accomplishment.

  1. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

    Science.gov (United States)

    Pua, Chee Jian; Bhalshankar, Jaydutt; Miao, Kui; Walsh, Roddy; John, Shibu; Lim, Shi Qi; Chow, Kingsley; Buchan, Rachel; Soh, Bee Yong; Lio, Pei Min; Lim, Jaclyn; Schafer, Sebastian; Lim, Jing Quan; Tan, Patrick; Whiffin, Nicola; Barton, Paul J; Ware, James S; Cook, Stuart A

    2016-02-01

    Inherited cardiac conditions (ICCs) are characterised by marked genetic and allelic heterogeneity and require extensive sequencing for genetic characterisation. We iteratively optimised a targeted gene capture panel for ICCs that includes disease-causing, putatively pathogenic, research and phenocopy genes (n = 174 genes). We achieved high coverage of the target region on both MiSeq (>99.8% at ≥ 20× read depth, n = 12) and NextSeq (>99.9% at ≥ 20×, n = 48) platforms with 100% sensitivity and precision for single nucleotide variants and indels across the protein-coding target on the MiSeq. In the final assay, 40 out of 43 established ICC genes informative in clinical practice achieved complete coverage (100 % at ≥ 20×). By comparison, whole exome sequencing (WES; ∼ 80×), deep WES (∼ 500×) and whole genome sequencing (WGS; ∼ 70×) had poorer performance (88.1, 99.2 and 99.3% respectively at ≥ 20×) across the ICC target. The assay described here delivers highly accurate and affordable sequencing of ICC genes, complemented by accessible cloud-based computation and informatics. See Editorial in this issue (DOI: 10.1007/s12265-015-9667-8 ).

  2. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

    Science.gov (United States)

    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J; Bayram, Yavuz; Atik, Mehmed M; Aydin, Hatip; Geckinli, B Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S; Gibbs, Richard A; Lupski, James R

    2015-02-01

    Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" rather than cohesinopathies.

  3. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

    Science.gov (United States)

    Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

    2014-05-01

    Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions.

  4. Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.

    Science.gov (United States)

    Rajasagi, Mohini; Shukla, Sachet A; Fritsch, Edward F; Keskin, Derin B; DeLuca, David; Carmona, Ellese; Zhang, Wandi; Sougnez, Carrie; Cibulskis, Kristian; Sidney, John; Stevenson, Kristen; Ritz, Jerome; Neuberg, Donna; Brusic, Vladimir; Gabriel, Stacey; Lander, Eric S; Getz, Gad; Hacohen, Nir; Wu, Catherine J

    2014-07-17

    Genome sequencing has revealed a large number of shared and personal somatic mutations across human cancers. In principle, any genetic alteration affecting a protein-coding region has the potential to generate mutated peptides that are presented by surface HLA class I proteins that might be recognized by cytotoxic T cells. To test this possibility, we implemented a streamlined approach for the prediction and validation of such neoantigens derived from individual tumors and presented by patient-specific HLA alleles. We applied our computational pipeline to 91 chronic lymphocytic leukemias (CLLs) that underwent whole-exome sequencing (WES). We predicted ∼22 mutated HLA-binding peptides per leukemia (derived from ∼16 missense mutations) and experimentally confirmed HLA binding for ∼55% of such peptides. Two CLL patients that achieved long-term remission following allogeneic hematopoietic stem cell transplantation were monitored for CD8(+) T-cell responses against predicted or confirmed HLA-binding peptides. Long-lived cytotoxic T-cell responses were detected against peptides generated from personal tumor mutations in ALMS1, C6ORF89, and FNDC3B presented on tumor cells. Finally, we applied our computational pipeline to WES data (N = 2488 samples) across 13 different cancer types and estimated dozens to thousands of predicted neoantigens per individual tumor, suggesting that neoantigens are frequent in most tumors.

  5. Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.

    Science.gov (United States)

    Hicks, J Kevin; Shealy, Amy; Schreiber, Allison; Coleridge, Marissa; Noss, Ryan; Natowicz, Marvin; Moran, Rocio; Moss, Timothy; Erwin, Angelika; Eng, Charis

    2017-07-27

    Whole exome sequencing (WES) has the potential of identifying secondary findings that are predictive of poor pharmacotherapy outcomes. The purpose of this study was to investigate patients' wishes regarding the reporting of secondary pharmacogenomic findings. WES results (n = 106 patients) were retrospectively reviewed to determine the number of patients electing to receive secondary pharmacogenomic results. Phenotypes were assigned based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. The percent of patients with a predicted phenotype associated with a gene-based CPIC dosing recommendation was determined. Ninety-nine patients (93.4%) elected to receive secondary pharmacogenomic findings. For each gene-drug pair analyzed, the number of patients with an actionable phenotype ranged from two (2%) to 43 patients (43.4%). Combining all gene-drug pairs, 84 unique patients (84.8%) had an actionable phenotype. A prospective multidisciplinary practice model was developed for integrating secondary pharmacogenomic findings into clinical practice. Our model highlights a unique collaboration between physician-geneticists, pharmacists, and genetic counselors. © 2017 The Authors. Clinical and Translational Science published by Wiley Periodicals, Inc. on behalf of American Society for Clinical Pharmacology and Therapeutics.

  6. Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

    Science.gov (United States)

    Saji, Naoki; Kawarai, Toshitaka; Miyamoto, Ryosuke; Sato, Takahiro; Morino, Hiroyuki; Orlacchio, Antonio; Oki, Ryosuke; Kimura, Kazumi; Kaji, Ryuji

    2015-05-15

    Hereditary hemorrhagic telangiectasia (HHT) occasionally can be discovered in patients with cerebrovascular disease. Pulmonary arteriovenous malformation (PAVM) is one of the complications in HHT and occasionally is causative for life-threatening embolic stroke. Several genetic defects have been reported in patients with HHT. The broad spectrum of phenotype and intrafamilial phenotype variations, including age-at-onset of vascular events, often make an early diagnosis difficult. We present here a Japanese family with a novel intronic heterozygous mutation of ENG, which was identified using whole exome sequencing (WES). The intronic mutation, IVS3+4delAGTG, results in in-frame deletion of exon 3 and would produce a shorter ENG protein lacking the extracellular forty-seven amino acid sequences, which is located within the orphan domain. Our findings highlight the importance of the domain for the downstream signaling pathway of transforming growth factor-beta and bone morphogenesis protein superfamily receptors. Considering the phenotype variations and the available treatment for vascular complications, an early diagnosis using genetic testing, including WES, should be considered for individuals at risk of HHT. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Identification of Korean-specific SNP markers from whole-exome sequencing data.

    Science.gov (United States)

    Kim, Sung Min; Yoo, Seong Yeon; Nam, Soo Hyun; Lee, Jae Moon; Chung, Ki Wha

    2016-05-01

    Analysis of large numbers of single-nucleotide polymorphisms (SNPs) can increase individual discrimination power, and, particularly, it can supply important evidence for kinship or ethnic identification. We identified 300 Korean-specific SNPs from 306 Korean whole-exome sequencing (WES) data. Functionally significant SNPs (variants in splicing site, missense, nonsense, and exonic indels) were filtered out from the variant pool, and SNPs with minor allele frequencies (MAFs) of 0.3 in the Korean population were selected. Genotypes obtained from WES were confirmed by the Sanger sequencing method. The identified markers were evenly distributed throughout the autosomal chromosomes. All the SNPs were in the Hardy-Weinberg equilibrium with a mean MAF of 0.415 (0.161 in 1000G). The mean heterozygosities were 0.476 (observed) and 0.470 (experimental). The combined power of discrimination was very high. Korean MAFs in most SNPs were similar to those for the Chinese and Japanese populations, but were significantly higher than those for several other ethnic populations. These selected SNPs will be used to develop forensic markers and are expected to be widely used for additional individual identification, ethnic discrimination, and linkage analysis for kinship tests.

  8. Challenges in medical applications of whole exome/genome sequencing discoveries.

    Science.gov (United States)

    Marian, Ali J

    2012-11-01

    Despite the well-documented influence of genetics on susceptibility to cardiovascular diseases, delineation of the full spectrum of the risk alleles had to await the development of modern next-generation sequencing technologies. The techniques provide unbiased approaches for identification of the DNA sequence variants (DSVs) in the entire genome (whole genome sequencing [WGS]) or the protein-coding exons (whole exome sequencing [WES]). Each genome contains approximately 4 million DSVs and each exome approximately 13,000 single nucleotide variants. The challenge facing researchers and clinicians alike is to decipher the biological and clinical significance of these variants and harness the information for the practice of medicine. The common DSVs typically exert modest effect sizes, as evidenced by the results of genome-wide association studies, and hence have modest or negligible clinical implications. The focus is on the rare variants with large effect sizes, which are expected to have stronger clinical implications, as in single gene disorders with Mendelian patterns of inheritance. However, the clinical implications of the rare variants for common complex cardiovascular diseases remain to be established. The most important contribution of WES or WGS is in delineation of the novel molecular pathways involved in the pathogenesis of the phenotype, which would be expected to provide for preventive and therapeutic opportunities.

  9. Characterizing the Performance of the Wheel Electrostatic Spectrometer

    Science.gov (United States)

    Johansen, Michael R.; Mackey, P. J.; Holbert, E.; Calle, C. I.; Clements, J. S.

    2013-01-01

    Insulators need to be discharged after each wheel revolution. Sensor responses repeatable within one standard deviation in the noise of the signal. Insulators may not need to be cleaned after each revolution. Parent Technology- Mars Environmental Compatibility Assessment/Electrometer Electrostatic sensors with dissimilar cover insulators Protruding insulators tribocharge against regolith simulant Developed for use on the scoop for the 2001 Mars Odyssey lander Wheel Electrostatic Spectrometer Embedded electrostatic sensors in prototype Martian rover wheel If successful, this technology will enable constant electrostatic testing on Mars Air ionizing fan used to neutralize the surface charge on cover insulators . WES rolled on JSClA lunar simulant Control experiment -Static elimination not conducted between trials -Capacitor discharged after each experiment Charge neutralization experiment -Static elimination conducted between trials -Capacitor discharged after each experiment. Air ionizing fan used on insulators after each wheel revolution Capacitor discharged after each trial Care was taken to roll WES with same speed/pressure Error bars represent one standard deviation in the noise of e ach sensor

  10. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Shan Dong

    2014-10-01

    Full Text Available Whole-exome sequencing (WES studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs to autism spectrum disorder (ASD. However, challenges in the reliable detection of de novo insertions and deletions (indels have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals, we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0–2.7; p = 0.03, are more common in female probands (p = 0.02, are enriched among genes encoding FMRP targets (p = 6 × 10−9, and arise predominantly on the paternal chromosome (p < 0.001. On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5, a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release.

  11. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

    Science.gov (United States)

    Dong, Shan; Walker, Michael F.; Carriero, Nicholas J.; DiCola, Michael; Willsey, A. Jeremy; Ye, Adam Y.; Waqar, Zainulabedin; Gonzalez, Luis E.; Overton, John D.; Frahm, Stephanie; Keaney, John F.; Teran, Nicole A.; Dea, Jeanselle; Mandell, Jeffrey D.; Bal, Vanessa Hus; Sullivan, Catherine A.; DiLullo, Nicholas M.; Khalil, Rehab O.; Gockley, Jake; Yuksel, Zafer; Sertel, Sinem M.; Ercan-Sencicek, A. Gulhan; Gupta, Abha R.; Mane, Shrikant M.; Sheldon, Michael; Brooks, Andrew I.; Roeder, Kathryn; Devlin, Bernie; State, Matthew W.; Wei, Liping; Sanders, Stephan J.

    2014-01-01

    SUMMARY Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. Through the application of a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR=1.6; 95%CI=1.0-2.7; p=0.03), are more common in female probands (p=0.02), are enriched among genes encoding FMRP targets (p=6×10−9), and arise predominantly on the paternal chromosome (p<0.001). Based on mutation rates in probands versus unaffected siblings, de novo frameshift indels contribute to risk in approximately 3.0% of individuals with ASD. Finally, through observing clustering of mutations in unrelated probands, we report two novel ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release. PMID:25284784

  12. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.

    Science.gov (United States)

    Ibáñez, Mariam; Carbonell-Caballero, José; García-Alonso, Luz; Such, Esperanza; Jiménez-Almazán, Jorge; Vidal, Enrique; Barragán, Eva; López-Pavía, María; LLop, Marta; Martín, Iván; Gómez-Seguí, Inés; Montesinos, Pau; Sanz, Miguel A; Dopazo, Joaquín; Cervera, José

    2016-01-01

    Preliminary Acute Promyelocytic Leukemia (APL) whole exome sequencing (WES) studies have identified a huge number of somatic mutations affecting more than a hundred different genes mainly in a non-recurrent manner, suggesting that APL is a heterogeneous disease with secondary relevant changes not yet defined. To extend our knowledge of subtle genetic alterations involved in APL that might cooperate with PML/RARA in the leukemogenic process, we performed a comprehensive analysis of somatic mutations in APL combining WES with sequencing of a custom panel of targeted genes by next-generation sequencing. To select a reduced subset of high confidence candidate driver genes, further in silico analysis were carried out. After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis. Our network analysis of multiple mutations provides a reliable approach to prioritize genes for additional analysis, improving our knowledge of the leukemogenesis interactome. Additionally, we have defined a functional module in the interactome of APL. The hypothesis is that the number, or the specific combinations, of mutations harbored in each patient might not be as important as the disturbance caused in biological key functions, triggered by several not necessarily recurrent mutations.

  13. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

    Science.gov (United States)

    Emmerich, Denise; Zemojtel, Tomasz; Hecht, Jochen; Krawitz, Peter; Spielmann, Malte; Kühnisch, Jirko; Kobus, Karolina; Osswald, Monika; Heinrich, Verena; Berlien, Peter; Müller, Ute; Mautner, Victor-F; Wimmer, Katharina; Robinson, Peter N; Vingron, Martin; Tinschert, Sigrid; Mundlos, Stefan; Kolanczyk, Mateusz

    2015-06-01

    Neurofibromatosis type 1 (NF1) (MIM#162200) is a relatively frequent genetic condition that predisposes to tumor formation. The main types of tumors occurring in NF1 patients are cutaneous and subcutaneous neurofibromas, plexiform neurofibromas, optic pathway gliomas, and malignant peripheral nerve sheath tumors. To search for somatic mutations in cutaneous (dermal) neurofibromas, whole-exome sequencing (WES) was performed on seven spatially separated tumors and two reference tissues (blood and unaffected skin) from a single NF1 patient. Validation of WES findings was done using routine Sanger sequencing or Sequenom IPlex SNP genotyping. Exome sequencing confirmed the existence of a known familial splice-site mutation NM_000267.3:c.3113+1G>A in exon 23 of NF1 gene (HGMD ID CS951480) in blood, unaffected skin, and all tumor samples. In five out of seven analyzed tumors, we additionally detected second-hit mutations in the NF1 gene. Four of them were novel and one was previously observed. Each mutation was distinct, demonstrating the independent origin of each tumor. Only in two of seven tumors we detected an additional somatic mutation that was not associated with NF1. Our study demonstrated that somatic mutations of NF1 are likely the main drivers of cutaneous tumor formation. The study provides evidence for the rareness of single base pair level alterations in the exomes of benign NF1 cutaneous tumors.

  14. Genetic investigation of bisphosphonate-related osteonecrosis of jaw (BRONJ via whole exome sequencing and bioinformatics.

    Directory of Open Access Journals (Sweden)

    Jee-Hwan Kim

    Full Text Available Complications associated with the use of bisphosphonate (BP have risen over the years due to an increase in the prescription of BP. BP-related osteonecrosis of jaw (BRONJ, one of the complications linked to the consumption of BP, greatly affects patients with minor dental trauma, incurring a long healing period. While BRONJ afflicts only a minority of patients prescribed with BP, BRONJ is a multigenic disease affected both by environmental and genetic factors having a distinctive phenotype. This study aims to discover genetic biomarkers associated with BRONJ via whole exome sequencing (WES followed by statistical analysis. Sixteen individuals who had been prescribed with bisphosphonate medication and diagnosed as BRONJ were chosen and each individual's saliva sample was collected for WES. 126 randomized subsamples from the GSK project representing 109 male and 17 female Koreans were used as a control data set. Fisher's exact test was carried out to assess the significance of genetic variants in BRONJ patients. Gene set enrichment analysis (GSEA (DAVID Bioinformatics Resource 6.7 was used to perform a cluster analysis of variants found from Fisher's exact test. The results from this study suggest that BRONJ-inducing factors are genetically associated and BRONJ occurs due to the malfunctioning of post-translational modification in osteoclast leading to the impairment of cell morphology and adhesion.

  15. Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

    Science.gov (United States)

    Friedrich, Corinna; Rinné, Susanne; Zumhagen, Sven; Kiper, Aytug K; Silbernagel, Nicole; Netter, Michael F; Stallmeyer, Birgit; Schulze-Bahr, Eric; Decher, Niels

    2014-07-01

    Analyzing a patient with progressive and severe cardiac conduction disorder combined with idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium channel gene SCN5A. Due to the severe phenotype, we performed whole-exome sequencing (WES) and identified an additional mutation in the KCNK17 gene encoding the K2P potassium channel TASK-4. The heterozygous change (c.262G>A) resulted in the p.Gly88Arg mutation in the first extracellular pore loop. Mutant TASK-4 channels generated threefold increased currents, while surface expression was unchanged, indicating enhanced conductivity. When co-expressed with wild-type channels, the gain-of-function by G88R was conferred in a dominant-active manner. We demonstrate that KCNK17 is strongly expressed in human Purkinje cells and that overexpression of G88R leads to a hyperpolarization and strong slowing of the upstroke velocity of spontaneously beating HL-1 cells. Thus, we propose that a gain-of-function by TASK-4 in the conduction system might aggravate slowed conductivity by the loss of sodium channel function. Moreover, WES supports a second hit-hypothesis in severe arrhythmia cases and identified KCNK17 as a novel arrhythmia gene.

  16. Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.

    Science.gov (United States)

    Nuytemans, Karen; Maldonado, Lizmarie; Ali, Aleena; John-Williams, Krista; Beecham, Gary W; Martin, Eden; Scott, William K; Vance, Jeffery M

    2016-02-01

    Given their reported function in phagocytosis and clearance of protein aggregates in Alzheimer disease (AD), we hypothesized that variants in ATP-binding cassette transporter A7 (ABCA7) might be involved in Parkinson disease (PD). ABCA7 variants were identified using whole-exome sequencing (WES) on 396 unrelated patients with PD and 222 healthy controls. In addition, we used the publicly available WES data from the Parkinson's Progression Markers Initiative (444 patients and 153 healthy controls) as a second, independent data set. We observed a higher frequency of loss-of-function (LOF) variants and rare putative highly functional variants (Combined Annotation Dependent Depletion [CADD] >20) in clinically diagnosed patients with PD than in healthy controls in both data sets. Overall, we identified LOF variants in 11 patients and 1 healthy control (odds ratio [OR] 4.94, Fisher exact p = 0.07). Four of these variants have been previously implicated in AD risk (p.E709AfsX86, p.W1214X, p.L1403RfsX7, and rs113809142). In addition, rare variants with CADD >20 were observed in 19 patients vs 3 healthy controls (OR 2.85, Fisher exact p = 0.06). The presence of ABCA7 LOF variants in clinically defined PD suggests that they might be risk factors for neurodegeneration in general, especially those variants hallmarked by protein aggregation. More studies will be needed to evaluate the overall impact of this transporter in neurodegenerative disease.

  17. RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing

    Science.gov (United States)

    Chang, Lun-Ching; Das, Biswajit; Lih, Chih-Jian; Si, Han; Camalier, Corinne E.; McGregor, Paul M.; Polley, Eric

    2016-01-01

    With rapid advances in DNA sequencing technologies, whole exome sequencing (WES) has become a popular approach for detecting somatic mutations in oncology studies. The initial intent of WES was to characterize single nucleotide variants, but it was observed that the number of sequencing reads that mapped to a genomic region correlated with the DNA copy number variants (CNVs). We propose a method RefCNV that uses a reference set to estimate the distribution of the coverage for each exon. The construction of the reference set includes an evaluation of the sources of variability in the coverage distribution. We observed that the processing steps had an impact on the coverage distribution. For each exon, we compared the observed coverage with the expected normal coverage. Thresholds for determining CNVs were selected to control the false-positive error rate. RefCNV prediction correlated significantly (r = 0.96–0.86) with CNV measured by digital polymerase chain reaction for MET (7q31), EGFR (7p12), or ERBB2 (17q12) in 13 tumor cell lines. The genome-wide CNV analysis showed a good overall correlation (Spearman’s coefficient = 0.82) between RefCNV estimation and publicly available CNV data in Cancer Cell Line Encyclopedia. RefCNV also showed better performance than three other CNV estimation methods in genome-wide CNV analysis. PMID:27147817

  18. Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.

    Science.gov (United States)

    Breuer, Oded; Daum, Hagit; Cohen-Cymberknoh, Malena; Unger, Susanne; Shoseyov, David; Stepensky, Polina; Keller, Baerbel; Warnatz, Klaus; Kerem, Eitan

    2017-05-01

    In a substantial number of patients with non-cystic fibrosis (CF) bronchiectasis an etiology cannot be found. Various complex immunodeficiency syndromes account for a significant portion of these patients but the mechanism elucidating the predisposition for suppurative lung disease often remains unknown. To investigate the cause and mechanism predisposing a patient to severe bronchiectasis. A patient presenting with severe non-CF bronchiectasis was investigated. Whole exome analysis (WES) was performed and complemented by extensive immunophenotyping. The genetic analysis revealed an autosomal dominant gain-of-function mutation (AD- GOF) in the signal transducer and activator of transcription 1 (STAT1) in the patient. STAT1 phosphorylation studies showed increased phosphorylation of STAT1 after stimulation with interferon γ (IFN-γ). Immunophenotyping showed normal counts of CD4 and CD8 T cells, B and NK cells, but a reduction of all memory B cells especially class switched memory B cells. Minor changes in the CD8 T cell subpopulations were seen. Early use of WES in the investigation of non-CF bronchiectasis was highly advantageous. The degree of impairment in class-switched memory B cells may predispose patients with AD- GOF mutations in STAT1 to suppurative sinopulmonary disease. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

    Science.gov (United States)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei; King, Robert A; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J; Mandell, Jeffrey D; Huang, Alden Y; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E; Neale, Benjamin M; Coppola, Giovanni; Mathews, Carol A; Tischfield, Jay A; Scharf, Jeremiah M; State, Matthew W; Heiman, Gary A

    2017-05-03

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

    Science.gov (United States)

    Khan, A O; Budde, B S; Nürnberg, P; Kawalia, A; Lenzner, S; Bolz, H J

    2017-03-30

    To uncover the genotype underlying early-onset cone-rod dystrophy and central nummular macular atrophic lesion in 2 siblings from an endogamous Arab family, we performed targeted next-generation sequencing (NGS) of 44 retinal dystrophy genes, whole-exome sequencing (WES) and genome-wide linkage analysis. Targeted NGS and WES in the index patient highlighted 2 homozygous variants, a CCDC66 frameshift deletion and a novel missense NMNAT1 variant, c.500G>A (p.Asn167Ser). Linkage and segregation analysis excluded the CCDC66 variant and confirmed the NMNAT1 mutation. Biallelic NMNAT1 mutations cause Leber congenital amaurosis with a central nummular macular atrophic lesion (LCA9). The NMNAT1 mutation reported here underlied cone-rod dystrophy rather than LCA but the fundus lesion was compatible with that of LCA9 patients, highlighting that such a fundus appearance should raise suspicion for biallelic mutations in NMNAT1 when in the context of any retinal dystrophy. Although Ccdc66 mutations have been proposed to cause retinal disease in dogs, our results and public databases challenge CCDC66 as a candidate gene for human retinal dystrophy. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

    Science.gov (United States)

    Ackerman, Jaeger P; Smestad, John A; Tester, David J; Qureshi, Muhammad Y; Crabb, Beau A; Mendelsohn, Nancy J; Ackerman, Michael J

    2016-09-01

    To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defect, and patent ductus arteriosus that were closed surgically. Subsequently, the phenotype of polyvalvular syndrome with involvement of both semilunar and both atrioventricular valves emerged. His family history was negative for congenital heart disease. Because of hypotonia, myopia, soft pale skin, joint hypermobility, and mild facial dysmorphism, either Noonan syndrome- or William syndrome-spectrum disorders were suspected clinically. However, chromosomal analysis was normal and commercially available Noonan syndrome and William syndrome genetic tests were negative. Whole exome sequencing of the patient and both parents was performed. Variants were analyzed by sporadic and autosomal recessive inheritance models. A sporadic mutation, annotated as c.1491 T > A, in TAB2, resulting in a nonsense mutation, p.Y497X, in the TAB2-encoded TGF-beta activated kinase 1 (TAK1) was identified as the most likely disease-susceptibility gene. This mutation results in elimination of the terminal 197 amino acids, including the C-terminal binding motif critical for interactions with TRAF6 and TAK1. The combination of WES, genomic triangulation, and systems biology has uncovered perturbations in TGF-beta activated kinase 1 signaling as a novel pathogenic substrate for polyvalvular syndrome. © 2016 Wiley Periodicals, Inc.

  2. Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

    Science.gov (United States)

    Cerino, Mathieu; Gorokhova, Svetlana; Laforet, Pascal; Ben Yaou, Rabah; Salort-Campana, Emmanuelle; Pouget, Jean; Attarian, Shahram; Eymard, Bruno; Deleuze, Jean-François; Boland, Anne; Behin, Anthony; Stojkovic, Tanya; Bonne, Gisele; Levy, Nicolas; Bartoli, Marc; Krahn, Martin

    2017-03-03

    Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Therefore, we used whole-exome sequencing (WES) to determine whether a cohort of clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized. Twenty patients with hIBM but undiagnosed by targeted GNE sequencing were analyzed by WES before data filtering on 306 genes associated with neuromuscular disorders. Seven patients out of 20 were found to have disease-causing mutations in genes associated with hIBM or genes allowing for hIBM in the differential diagnosis or associated with unexpected diagnosis. Next-generation sequencing is an efficient strategy in the context of hIBM, resulting in a molecular diagnosis for 35% of the patients initially undiagnosed by targeted GNE analysis. Muscle Nerve, 2017. © 2017 Wiley Periodicals, Inc.

  3. UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

    Science.gov (United States)

    Salgado, David; Desvignes, Jean‐Pierre; Rai, Ghadi; Blanchard, Arnaud; Miltgen, Morgane; Pinard, Amélie; Lévy, Nicolas; Collod‐Béroud, Gwenaëlle

    2016-01-01

    ABSTRACT Whole‐exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of inheritance, only one or two correspond to pathogenic mutations responsible for the disease and present in affected individuals. Therefore, it is crucial to filter out nonpathogenic variants and limit downstream analysis to a handful of candidate mutations. We have developed a new computational combinatorial system UMD‐Predictor (http://umd‐predictor.eu) to efficiently annotate cDNA substitutions of all human transcripts for their potential pathogenicity. It combines biochemical properties, impact on splicing signals, localization in protein domains, variation frequency in the global population, and conservation through the BLOSUM62 global substitution matrix and a protein‐specific conservation among 100 species. We compared its accuracy with the seven most used and reliable prediction tools, using the largest reference variation datasets including more than 140,000 annotated variations. This system consistently demonstrated a better accuracy, specificity, Matthews correlation coefficient, diagnostic odds ratio, speed, and provided the shortest list of candidate mutations for WES. Webservices allow its implementation in any bioinformatics pipeline for next‐generation sequencing analysis. It could benefit to a wide range of users and applications varying from gene discovery to clinical diagnosis. PMID:26842889

  4. Application of Sequencing, Liquid Biopsies, and Patient-Derived Xenografts for Personalized Medicine in Melanoma.

    Science.gov (United States)

    Girotti, Maria Romina; Gremel, Gabriela; Lee, Rebecca; Galvani, Elena; Rothwell, Dominic; Viros, Amaya; Mandal, Amit Kumar; Lim, Kok Haw Jonathan; Saturno, Grazia; Furney, Simon J; Baenke, Franziska; Pedersen, Malin; Rogan, Jane; Swan, Jacqueline; Smith, Matthew; Fusi, Alberto; Oudit, Deemesh; Dhomen, Nathalie; Brady, Ged; Lorigan, Paul; Dive, Caroline; Marais, Richard

    2016-03-01

    Targeted therapies and immunotherapies have transformed melanoma care, extending median survival from ∼9 to over 25 months, but nevertheless most patients still die of their disease. The aim of precision medicine is to tailor care for individual patients and improve outcomes. To this end, we developed protocols to facilitate individualized treatment decisions for patients with advanced melanoma, analyzing 364 samples from 214 patients. Whole exome sequencing (WES) and targeted sequencing of circulating tumor DNA (ctDNA) allowed us to monitor responses to therapy and to identify and then follow mechanisms of resistance. WES of tumors revealed potential hypothesis-driven therapeutic strategies for BRAF wild-type and inhibitor-resistant BRAF-mutant tumors, which were then validated in patient-derived xenografts (PDX). We also developed circulating tumor cell-derived xenografts (CDX) as an alternative to PDXs when tumors were inaccessible or difficult to biopsy. Thus, we describe a powerful technology platform for precision medicine in patients with melanoma. Although recent developments have revolutionized melanoma care, most patients still die of their disease. To improve melanoma outcomes further, we developed a powerful precision medicine platform to monitor patient responses and to identify and validate hypothesis-driven therapies for patients who do not respond, or who develop resistance to current treatments. ©2015 American Association for Cancer Research.

  5. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    Science.gov (United States)

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives.

  6. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

    Science.gov (United States)

    Linhares, Natália Duarte; Freire, Maíra Cristina Menezes; Cardenas, Raony Guimarães Corrêa do Carmo Lisboa; Pena, Heloisa Barbosa; Lachlan, Katherine; Dallapiccola, Bruno; Bacino, Carlos; Delobel, Bruno; James, Paul; Thuresson, Ann-Charlotte; Annerén, Göran; Pena, Sérgio D J

    2016-01-01

    Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

  7. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

    Science.gov (United States)

    Bondeson, M-L; Ericson, K; Gudmundsson, S; Ameur, A; Pontén, F; Wesström, J; Frykholm, C; Wilbe, M

    2017-11-01

    Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole-exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with 2 affected fetuses. RNA studies and histopathological analysis was performed for further delineation. WES lead to identification of a homozygous nonsense mutation c.256C>T (p.Arg86*) in CEP55 (centrosomal protein of 55 kDa) in the affected fetus. The variant has previously been identified in carriers in low frequencies, and segregated in the family. CEP55 is an important centrosomal protein required for the mid-body formation at cytokinesis. Our results expand the list of centrosomal proteins implicated in human ciliopathies and provide evidence for an essential role of CEP55 during embryogenesis and development of disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. The Effect of Channa striatus (Haruan Extract on Pain and Wound Healing of Post-Lower Segment Caesarean Section Women

    Directory of Open Access Journals (Sweden)

    Siti Zubaidah Ab Wahab

    2015-01-01

    Full Text Available Channa striatus has been consumed for decades as a remedy to promote wound healing by women during postpartum period. The objectives of this study were to compare postoperative pain, wound healing based on wound evaluation scale (WES, wound cosmetic appearance based on visual analogue scale (VAS scores and patient satisfaction score (PSS, and safety profiles between C. striatus group and placebo group after six weeks of lower segment caesarean section (LSCS delivery. A randomised, double-blind, placebo-controlled study was conducted. Subjects were randomised in a ratio of 1 : 1 into either the C. striatus group (500 mg daily or placebo group (500 mg of maltodextrin daily. 76 subjects were successfully randomised, with 38 in the C. striatus group and 35 in the placebo group. There were no significant differences in postoperative pain p=0.814 and WES p=0.160 between the C. striatus and placebo groups. However, VAS and PSS in the C. striatus group were significantly better compared with the placebo group (p=0.014 and p<0.001, resp.. The safety profiles showed no significant differences between the groups. In conclusion, six-week supplementation of 500 mg of C. striatus extract showed marked differences in wound cosmetic appearance and patient’s satisfaction and is safe for human consumption.

  9. In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data

    Science.gov (United States)

    Cai, Lei; Yuan, Wei; Zhang, Zhou; He, Lin; Chou, Kuo-Chen

    2016-11-01

    Four popular somatic single nucleotide variant (SNV) calling methods (Varscan, SomaticSniper, Strelka and MuTect2) were carefully evaluated on the real whole exome sequencing (WES, depth of ~50X) and ultra-deep targeted sequencing (UDT-Seq, depth of ~370X) data. The four tools returned poor consensus on candidates (only 20% of calls were with multiple hits by the callers). For both WES and UDT-Seq, MuTect2 and Strelka obtained the largest proportion of COSMIC entries as well as the lowest rate of dbSNP presence and high-alternative-alleles-in-control calls, demonstrating their superior sensitivity and accuracy. Combining different callers does increase reliability of candidates, but narrows the list down to very limited range of tumor read depth and variant allele frequency. Calling SNV on UDT-Seq data, which were of much higher read-depth, discovered additional true-positive variations, despite an even more tremendous growth in false positive predictions. Our findings not only provide valuable benchmark for state-of-the-art SNV calling methods, but also shed light on the access to more accurate SNV identification in the future.

  10. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

    Science.gov (United States)

    Bi, Weimin; Glass, Ian A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Sun, Angela

    2016-08-01

    Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus far only been made in 16 Old Order Mennonite patients carrying a homozygous 7 kb founder deletion of exons 9-13 of STRADA. We performed clinical whole exome sequencing (WES) on a 4-year-old Indian male with global developmental delay, history of failure to thrive, infantile spasms, repetitive behaviors, hypotonia, low muscle mass, marked joint laxity, and dysmorphic facial features including tall forehead, long face, arched eyebrows, small chin, wide mouth, and tented upper lip. A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified. Sanger sequencing confirmed the mutation in the individual and identified both parents as carriers. In light of the molecular discoveries, the patient's clinical phenotype was considered to be a good fit for PMSE. We identified for the first time a homozygous point mutation in STRADA causing PMSE. Additional bi-allelic mutations related to PMSE thus far have not been observed in Baylor ∼6,000 consecutive clinical WES cases, supporting the rarity of this disorder. Our findings may have treatment implications for the patient since previous studies have shown rapamycin as a potential therapeutic agent for the seizures and cognitive problems in PMSE patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Optimal Wind Energy Integration in Large-Scale Electric Grids

    Science.gov (United States)

    Albaijat, Mohammad H.

    profit for investors for renting their transmission capacity, and cheaper electricity for end users. We propose a hybrid method based on a heuristic and deterministic method to attain new transmission lines additions and increase transmission capacity. Renewable energy resources (RES) have zero operating cost, which makes them very attractive for generation companies and market participants. In addition, RES have zero carbon emission, which helps relieve the concerns of environmental impacts of electric generation resources' carbon emission. RES are wind, solar, hydro, biomass, and geothermal. By 2030, the expectation is that more than 30% of electricity in the U.S. will come from RES. One major contributor of RES generation will be from wind energy resources (WES). Furthermore, WES will be an important component of the future generation portfolio. However, the nature of WES is that it experiences a high intermittency and volatility. Because of the great expectation of high WES penetration and the nature of such resources, researchers focus on studying the effects of such resources on the electric grid operation and its adequacy from different aspects. Additionally, current market operations of electric grids add another complication to consider while integrating RES (e.g., specifically WES). Mandates by market rules and long-term analysis of renewable penetration in large-scale electric grid are also the focus of researchers in recent years. We advocate a method for high-wind resources penetration study on large-scale electric grid operations. PMU is a geographical positioning system (GPS) based device, which provides immediate and precise measurements of voltage angle in a high-voltage transmission system. PMUs can update the status of a transmission line and related measurements (e.g., voltage magnitude and voltage phase angle) more frequently. Every second, a PMU can provide 30 samples of measurements compared to traditional systems (e.g., supervisory control and

  12. Comparative Energy Generation of Irish-potato, Tomato and Pineapple ZN/CU Vegetative Batteries

    Directory of Open Access Journals (Sweden)

    S.M. Talai

    2014-07-01

    Full Text Available Environmental pollution associated with petroleum sources of energy has reinvigorated interest in the need to find “greener” electrical energy alternatives without a net carbon emission into the ecosystem to solve these problems. This research study analyzed electricity generation through bioelectrolytic reaction from an irish-potato, pineapple and tomato as electrolyte for the vegetative batteries with Zn/Cu as electrode. Treatments were performed on samples. In the first treatment, vegetative samples were heated at varied temperatures (19.5-80°C and at varied holding times (20-60 min. In the second type, sample tissues were sandwiched between two aluminium plates through which pulses of AC current were passed at varied frequencies (2.63-100,000 Hz maintained at 312 mV. With 108 cm3 of sample, the battery capacities in untreated state were: irish-potato 53.7 mAh, pineapple 84.2 mAh and tomato 80.4 mAh; heat treated state: irish-potato 66.86 mAh, pineapple 116.4 mAh and tomato 108.8 mAh; while in electro orated state: irish-potato 68.9 mAh,pineapple 96.0 mAh and tomato 105.67 mAh. All these capacities were found experimentally to power a LED of forward current 1.44 mA, resistance of 270 &Omega and supply voltage of 3V. Primary cost analyses showed that electro orated Zn/Cu vegetative battery samples generates portable energy of 5.74-50.54 cts/Wh, which is 14-124 times more than the currently available dry cell (D-type cells retailed at 7.14 Ksh/Wh. Given that irish-potato is ranked fourth (after maize, wheat and rice in the world and the second most important food crop after maize in Kenya in terms of abundance, it was recommended as an alternative vegetative battery.

  13. Ketoacylsynthase Domains of a Polyunsaturated Fatty Acid Synthase in Thraustochytrium sp. Strain ATCC 26185 Can Effectively Function as Stand-Alone Enzymes in Escherichia coli.

    Science.gov (United States)

    Xie, Xi; Meesapyodsuk, Dauenpen; Qiu, Xiao

    2017-05-01

    Thraustochytrium sp. strain ATCC 26185 accumulates a high level of docosahexaenoic acid (DHA), a nutritionally important ω-3 very-long-chain polyunsaturated fatty acid (VLCPUFA) synthesized primarily by polyunsaturated fatty acid (PUFA) synthase, a type I polyketide synthase-like megaenzyme. The PUFA synthase in this species comprises three large subunits, each with multiple catalytic domains. It was hypothesized that among these domains, ketoacylsynthase (KS) domains might be critical for catalyzing the condensation of specific unsaturated acyl-acyl carrier proteins (ACPs) with malonyl-ACP, thereby retaining double bonds in an extended acyl chain. To investigate the functions of these putative KS domains, two segment sequences from subunit A (KS-A) and subunit B (KS-B) of the PUFA synthase were dissected and then expressed as stand-alone enzymes in Escherichia coli The results showed that both KS-A and KS-B domains could complement the defective phenotypes of both E. colifabB and fabF mutants. Overexpression of these domains in wild-type E. coli led to increases in total fatty acid production. KS-B produced a higher ratio of unsaturated fatty acids (UFAs) to saturated fatty acids (SFAs), while KS-A could improve the overall production of fatty acids more effectively, particularly for the production of SFAs, implying that KS-A is more comparable to FabF, while KS-B is more similar to FabB in catalytic functions. Successful complementation and functional expression of the embedded KS domains in E. coli are the first step forward in studying the molecular mechanism of the PUFA synthase for the biosynthesis of VLCPUFAs in ThraustochytriumIMPORTANCE Very-long-chain polyunsaturated fatty acids (VLCPUFAs) are important for human health. They can be biosynthesized in either an aerobic pathway or an anaerobic pathway in nature. However, abundant VLCPUFAs in marine microorganisms are primarily synthesized by polyunsaturated fatty acid (PUFA) synthase, a megaenzyme with

  14. Survival of Salmonella enterica in poultry feed is strain dependent.

    Science.gov (United States)

    Andino, Ana; Pendleton, Sean; Zhang, Nan; Chen, Wei; Critzer, Faith; Hanning, Irene

    2014-02-01

    Feed components have low water activity, making bacterial survival difficult. The mechanisms of Salmonella survival in feed and subsequent colonization of poultry are unknown. The purpose of this research was to compare the ability of Salmonella serovars and strains to survive in broiler feed and to evaluate molecular mechanisms associated with survival and colonization by measuring the expression of genes associated with colonization (hilA, invA) and survival via fatty acid synthesis (cfa, fabA, fabB, fabD). Feed was inoculated with 1 of 15 strains of Salmonella enterica consisting of 11 serovars (Typhimurium, Enteriditis, Kentucky, Seftenburg, Heidelberg, Mbandanka, Newport, Bairely, Javiana, Montevideo, and Infantis). To inoculate feed, cultures were suspended in PBS and survival was evaluated by plating samples onto XLT4 agar plates at specific time points (0 h, 4 h, 8 h, 24 h, 4 d, and 7 d). To evaluate gene expression, RNA was extracted from the samples at the specific time points (0, 4, 8, and 24 h) and gene expression measured with real-time PCR. The largest reduction in Salmonella occurred at the first and third sampling time points (4 h and 4 d) with the average reductions being 1.9 and 1.6 log cfu per g, respectively. For the remaining time points (8 h, 24 h, and 7 d), the average reduction was less than 1 log cfu per g (0.6, 0.4, and 0.6, respectively). Most strains upregulated cfa (cyclopropane fatty acid synthesis) within 8 h, which would modify the fluidity of the cell wall to aid in survival. There was a weak negative correlation between survival and virulence gene expression indicating downregulation to focus energy on other gene expression efforts such as survival-related genes. These data indicate the ability of strains to survive over time in poultry feed was strain dependent and that upregulation of cyclopropane fatty acid synthesis and downregulation of virulence genes were associated with a response to desiccation stress.

  15. Water-enhanced solvation of organics

    Energy Technology Data Exchange (ETDEWEB)

    Lee, J.H.

    1993-07-01

    Water-enhanced solvation (WES) was explored for Lewis acid solutes in Lewis base organic solvents, to develop cheap extract regeneration processes. WES for solid solutes was determined from ratios of solubilities of solutes in water-sat. and low-water solvent; both were determined from solid-liquid equilibrium. Vapor-headspace analysis was used to determine solute activity coefficients as function of organic phase water concentration. WES magnitudes of volatile solutes were normalized, set equal to slope of log {gamma}{sub s} vs x{sub w}/x{sub s} curve. From graph shape {Delta}(log {gamma}{sub s}) represents relative change in solute activity coefficient. Solutes investigated by vapor-headspace analysis were acetic acid, propionic acid, ethanol, 1,2-propylene glycol, 2,3-butylene glycol. Monocarboxylic acids had largest decrease in activity coefficient with water addition followed by glycols and alcohols. Propionic acid in cyclohexanone showed greatest water-enhancement {Delta} (log {gamma}{sub acid})/{Delta}(x{sub w}/x{sub acid}) = {minus}0.25. In methylcyclohexanone, the decrease of the activity coefficient of propionic acid was {minus}0.19. Activity coefficient of propionic acid in methylcyclohexanone stopped decreasing once the water reached a 2:1 water to acid mole ratio, implying a stoichiometric relation between water, ketone, and acid. Except for 2,3-butanediol, activity coefficients of the solutes studied decreased monotonically with water content. Activity coefficient curves of ethanol, 1,2-propanediol and 2,3-butanediol did not level off at large water/solute mole ratio. Solutes investigated by solid-liquid equilibrium were citric acid, gallic acid, phenol, xylenols, 2-naphthol. Saturation concentration of citric acid in anhydrous butyl acetate increased from 0.0009 to 0.087 mol/L after 1.3 % (g/g) water co-dissolved into organic phase. Effect of water-enhanced solvation for citric acid is very large but very small for phenol and its derivatives.

  16. Characterization of uniform scanning proton beams with analytical models

    Science.gov (United States)

    Demez, Nebi

    Tissue equivalent phantoms have an important place in radiation therapy planning and delivery. They have been manufactured for use in conventional radiotherapy. Their tissue equivalency for proton beams is currently in active investigation. The Bragg-Kleeman rule was used to calculate water equivalent thickness (WET) for available tissue equivalent phantoms from CIRS (Norfolk, VA, USA). WET's of those phantoms were also measured using proton beams at Hampton University Proton Therapy Institute (HUPTI). WET measurements and calculations are in good agreement within ˜1% accuracy except for high Z phantoms. Proton beams were also characterized with an analytical proton dose calculation model, Proton Loss Model (PLM) [26], to investigate protons interactions in water and those phantoms. Depth-dose and lateral dose profiles of protons in water and in those phantoms were calculated, measured, and compared. Water Equivalent Spreadness (WES) was also investigated for those phantoms using the formula for scattering power ratio. Because WES is independent of incident energy of protons, it is possible to estimate spreadness of protons in different media by just knowing WES. Measurements are usually taken for configuration of the treatment planning system (TPS). This study attempted to achieve commissioning data for uniform scanning proton planning with analytical methods, PLM, which have been verified with published measurements and Monte Carlo calculations. Depth doses and lateral profiles calculated by PLM were compared with measurements via the gamma analysis method. While gamma analysis shows that depth doses are in >90% agreement with measured depth doses, the agreement falls to <80% for some lateral profiles. PLM data were imported into the TPS (PLM-TPS). PLM-TPS was tested with different patient cases. The PLM-TPS treatment plans for 5 prostate cases show acceptable agreement. The Planning Treatment Volume (PTV) coverage was 100 % with PLM-TPS except for one case in

  17. Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Turkowski, Kari L; Tester, David J; Bos, J Martijn; Haugaa, Kristina H; Ackerman, Michael J

    2017-03-01

    Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half of all ACM, the remainder is elusive genetically. Here, whole exome sequencing (WES) was performed with genomic triangulation in an effort to identify a novel explanation for a phenotype-positive, genotype-negative multi-generational pedigree with a presumed autosomal dominant, maternal inheritance of ACM. WES and genomic triangulation was performed on a symptomatic 14-year-old female proband, her affected mother and affected sister, and her unaffected father to elucidate a novel ACM-susceptibility gene for this pedigree. Following variant filtering using Ingenuity® Variant Analysis, gene priority ranking was performed on the candidate genes using ToppGene and Endeavour. The phylogenetic and physiochemical properties of candidate mutations were assessed further by 6 in silico prediction tools. Species alignment and amino acid conservation analysis was performed using the Uniprot Consortium. Tissue expression data was abstracted from Expression Atlas. Following WES and genomic triangulation, CDH2 emerged as a novel, autosomal dominant, ACM-susceptibility gene. The CDH2-encoded N-cadherin is a cell-cell adhesion protein predominately expressed in the heart. Cardiac dysfunction has been demonstrated in prior CDH2 knockout and over-expression animal studies. Further in silico mutation prediction, species conservation, and protein expression analysis supported the ultra-rare (minor allele frequency <0.005%) p.Asp407Asn-CDH2 variant as a likely pathogenic variant. Herein, it is demonstrated that genetic mutations in

  18. First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.

    Science.gov (United States)

    Dewan, Ramita; Pemov, Alexander; Dutra, Amalia S; Pak, Evgenia D; Edwards, Nancy A; Ray-Chaudhury, Abhik; Hansen, Nancy F; Chandrasekharappa, Settara C; Mullikin, James C; Asthagiri, Ashok R; Heiss, John D; Stewart, Douglas R; Germanwala, Anand V

    2017-02-13

    Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. Here, we present an in-depth genomic study of benign and atypical meningiomas, both from a single NF2 patient. While the grade I tumor was asymptomatic, the grade II tumor exhibited an unusually high growth rate: expanding to 335 times its initial volume within one year. The genomes of both tumors were examined by whole-exome sequencing (WES) complemented with spectral karyotyping (SKY) and SNP-array copy-number analyses. To better understand the clonal composition of the atypical meningioma, the tumor was divided in four sections and each section was investigated independently. Both tumors had second copy inactivation of NF2, confirming the central role of the gene in meningioma formation. The genome of the benign tumor closely resembled that of a normal diploid cell and had only one other deleterious mutation (EPHB3). In contrast, the chromosomal architecture of the grade II tumor was highly re-arranged, yet uniform among all analyzed fragments, implying that this large and fast growing tumor was composed of relatively few clones. Besides multiple gains and losses, the grade II meningioma harbored numerous chromosomal translocations. WES analysis of the atypical tumor identified deleterious mutations in two genes: ADAMTSL3 and CAPN5 in all fragments, indicating that the mutations were present in the cell undergoing fast clonal expansion CONCLUSIONS: This is the first WES study of NF2-associated meningiomas. Besides second NF2 copy inactivation, we found low somatic burden in both tumors and high level of genomic instability in the atypical meningioma. Genomic instability resulting in altered gene

  19. Comparative genomics of Brachyspira pilosicoli strains: genome rearrangements, reductions and correlation of genetic compliment with phenotypic diversity

    Directory of Open Access Journals (Sweden)

    Mappley Luke J

    2012-09-01

    Full Text Available Abstract Background The anaerobic spirochaete Brachyspira pilosicoli causes enteric disease in avian, porcine and human hosts, amongst others. To date, the only available genome sequence of B. pilosicoli is that of strain 95/1000, a porcine isolate. In the first intra-species genome comparison within the Brachyspira genus, we report the whole genome sequence of B. pilosicoli B2904, an avian isolate, the incomplete genome sequence of B. pilosicoli WesB, a human isolate, and the comparisons with B. pilosicoli 95/1000. We also draw on incomplete genome sequences from three other Brachyspira species. Finally we report the first application of the high-throughput Biolog phenotype screening tool on the B. pilosicoli strains for detailed comparisons between genotype and phenotype. Results Feature and sequence genome comparisons revealed a high degree of similarity between the three B. pilosicoli strains, although the genomes of B2904 and WesB were larger than that of 95/1000 (~2,765, 2.890 and 2.596 Mb, respectively. Genome rearrangements were observed which correlated largely with the positions of mobile genetic elements. Through comparison of the B2904 and WesB genomes with the 95/1000 genome, features that we propose are non-essential due to their absence from 95/1000 include a peptidase, glycine reductase complex components and transposases. Novel bacteriophages were detected in the newly-sequenced genomes, which appeared to have involvement in intra- and inter-species horizontal gene transfer. Phenotypic differences predicted from genome analysis, such as the lack of genes for glucuronate catabolism in 95/1000, were confirmed by phenotyping. Conclusions The availability of multiple B. pilosicoli genome sequences has allowed us to demonstrate the substantial genomic variation that exists between these strains, and provides an insight into genetic events that are shaping the species. In addition, phenotype screening allowed determination of how

  20. The Asian Values in Singapore`s Context of Use. The Curbsides of the Singapore`s Model of Democracy

    Directory of Open Access Journals (Sweden)

    Bianca Berna

    2013-11-01

    Full Text Available Out of a sense of nationhood or out of mere circumstantial and specific relatings to a national context, it is altogether visible that anti-universalist debate is making headway in international relations, in cultural studies and in the political science, if we are to classify a broader consultation of events.This article is aimed at presenting how the Western ideas can be seen, in examination, as artificial structures, in the national context of Asia. The Asian Values are a very interesting evaluative specimen of the anti-universalist orations. In the case of many Asian states, they created settled forms of government, having an especial adaptation with the originating incidents that were their birthplace. With the inward of these units of contextualization, we will turn to the conferral of the Singapore democracy model and to its germane bloc and bond with the Asian Values. We will interrelate a personal conspectus regarding the correctness of the seal of fastening between the Asian Values and Singapore`s democracy model.

  1. Political Events through Image and Ritual

    Directory of Open Access Journals (Sweden)

    Mirela Arsith

    2013-07-01

    Full Text Available Governing people, the manifestation of the political power event creates beliefs and ideas - power which represent variables of belief systems or existing rules in any society. Some promote emancipation, freedom and justice, others propagate retaliation, revenge and oppression. All, however, serve the approaches to mobilize and unite people through images and speech. The image is a global view of the person. It comes from personal experience and from the information received from the media and is the synthesis of all we know, true or false, on the subject which it represents. The citizens perceive the politician, the party, the political organization or institution according to the promoted image. The unique form of political discourse in the minds of the audience induces in the mind of the auditory the faith in the ability of the orator to provide optimal solutions to the problems manifested in the society. The charismatic leader acquires much of his power from the fact that it is perceived by many as being simultaneously above others and as others. The charismatic leader knows that energy of the masses is extracted from the emotions, illusions, beliefs, expectations, ideals and dreams; thus energized, people believe they know who to follow and who to devote.

  2. AN ORTHODOX THINKER AND A ROMANIAN HEART: THE SAINT HIERARCH ANTHIM

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    Henrieta Anişoara ŞERBAN

    2016-10-01

    Full Text Available 2016 is an anniversary year, dedicated to the Saint Hierarch Anthim, a multi-faced personality of Georgian origin, but with a Romanian accomplished life. He was a true Orthodox believer, a Hierarch of our Orthodox Church in Wallachia and a deep thinker, who lived through the teachings of the faith. At the same time, he was a good manager and a philanthropist, a scholar, a polyglot, a calligrapher, a typographer, a Church architect, an orator turned writer, a painter and a sculptor. His great homiletic work entitled Didahiile sends to Didache, the oldest post-Bible Christian text, famous at Constantinople, known also as The Teachings of the Twelve Apostles (The Teachings of the Lord to the Gentiles (or Nations by the Twelve Apostles. The study approaches and develops these dimensions of the personality and of the thought of the Saint Hierarch Anthim, in order to emphasize both his life and his work as an esteemed symbol of the Orthodox faith.

  3. 移动卫星网络中卫星切换调度研究%Research on the Handover Scheduling in Mobile Satellite Communication Networks

    Institute of Scientific and Technical Information of China (English)

    吴兆峰; 胡谷雨; 金凤林

    2015-01-01

    针对卫星切换调度问题,提出了一种最大服务时长切换调度算法。该算法利用了现有的GPS基础设施和卫星网络中卫星的多样性(即在任意时刻多颗卫星覆盖相同的区域),减少了用户在通信过程中的切换次数,从而最终降低了用户的掉话率,实现了用户在低轨( LEO)卫星网络中实时高效的切换。在Iridium卫星网络中的仿真结果验证了该算法的有效性。%A new satellite handover scheduling algorithm based on the maximum residual service time was proposed. The algorithm exploits both global positioning system ( GPS) infrastructure and satellite diversi-ty, providing a simple and real-time handover management in low earth orbit ( LEO) satellite networks to minimize the expected number of satellite handovers. It reduces the users' call drop probability ultimate-ly. Simulations were carried out on the typical Iridium satellite network and the simulation results corrob-orate the advantages gained by the proposed algorithm.

  4. Kvintilianas apie iškalbos privalumus | Quintilian: on the virtues of eloquence

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    Rasa Valienė

    2007-01-01

    Full Text Available In the Institutio Oratoria of Quintilian we find a presentation of a theory of the virtues of eloquence: purity of language (latinitas, clarity (perspicuitas, appropriateness (aptum and ornament (ornatus. All of them were originated by earlier Greek philosophers Aristotle and Theophrastus. Later this theory was taken on and elaborated by Roman rhetoricians – Cicero and Quintilian. Aristotle in his Rhetoric explicitly identified three of the four virtues (clarity, appropriateness and correctness. Theophrastus created a theory of four virtues of eloquence (correctness, clarity, appropriateness and ornament. His system was adopted by most of others. Dionysius, however, developed the most complex system of virtues. He presented a theory of virtues, which were divided into necessary (purity of language, appropriateness, lucidity and brevity and accessory ones. The accessory virtues were further subdivided into another three groups. Rhetorica ad Herennium offered a three fold system: elegantia (including both correctness and clarity, compositio (similar to appropriateness and diginitas (similar to ornament. Basically, in almost all aspects being closer to Cicero (who continues the tradition of Theophrastus, Quintilian is more focused on his theory of eloquence. He discusses the virtues of eloquence very widely and deeply, step by step, drawing a number of examples and including the educational process of an orator. Above all, although the theory of four virtues of Quintilian has been influenced by Ciceron, to some extent in general it does not claim originality and plays a paramount role in modern rhetorics, stylistic and pedagogy.

  5. "WE ARE ALL IN THE SAME BOAT NOW" PROVERBIAL RHETORIC IN THE CHURCHILL-ROOSEVELT CORRESPONDENCE

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    Wolfgang Mieder

    2006-06-01

    Full Text Available Both Winston S. Churchill (1874-1965 and Franklin D. Roosevelt (1 882-1945 were masters of the English language and effective orators, rallying their people through word and deed to fight as allies against the dictatorial powers during the Second World War. Their public speeches and interviews are replete with proverbs, proverbial expressions, and other phraseologisms. This is also true for their private and secretive letters, messages, memoranda, and telegrams, as can be seen from the materials that Warren F. Kimball edited in the three volumes of Churchill & Roosevelt: The Complete Correspondence (Princeton, NJ: Princeton University Press, 1984. The proverbial language, especially metaphorical texts referring to the body, animals, and the military, gives their important communications a lively and humane flavor that illustrates their deep friendship, trust, and support of each other. Frequently used as metaphorical arguments, these proverbial interjections into an otherwise factual epistolary exchange from 1933 to 1945 bear witness to the determination of these two world leaders to win the struggle for a free world.

  6. Response to Islamophobia in the Arabic Islamic discourse: A critical discourse Analysis

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    Zouhir Gabsi

    2015-12-01

    Full Text Available In the aftermath of September 11, Muslim scholars made numerous attempts to explain Islamophobia from the Islamic perspective; they presented arguments that are not addressed in the Western narrative. Two texts in Arabic by the prominent Muslim preacher, Mohammad Hassan and by the Muslim orator Fadhel Sliman are analysed from a Critical Discourse Analysis (CDA viewpoint. This analysis aims to demonstrate how language is inextricably linked with ideology. This paper demonstrates that textual strategies in the Arabic Islamic discourse and their ideological implications show distinct characteristics some of which add to the present literature on discourse. The aim of the chosen texts is to educate and create solidarity between the speakers and the audience in fighting Islamophobia. The reliance of the speakers on tactics such as quoting from the Holy Qur’ān and ḥadīth to defend Islam, and choice of words and sentence structures may instigate discussions about the persuasive power of the Arabic Islamic narrative.

  7. From Pericles to Plato – from democratic political praxis to totalitarian political philosophy

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    Øjvind Larsen

    2012-03-01

    Full Text Available Plato is normally taken as one of the founders of Western political philosophy, not at least with his Republic. Here, he constructs a hierarchy of forms of governments, beginning with aristocracy at the top as a critical standard for the other forms of governments, and proceeding through timocracy and oligarchy to democracy and tyranny at the bottom. Following Karl Popper, the paper argues that Plato’s is a totalitarian philosophy that emphasizes the similarities between democracy and tyranny, which it considers to be the two worst forms of government. Plato’s denigration of democracy has dominated the tradition of political philosophy until recent times. This paper, however, shows that political philosophy in fact originates in democracy, especially as developed by the sophists and that philosophy is only a form of sophism with a similar origin in ancient Greek democracy. A discussion of Pericles’ funeral oration is used to show that Pericles presented a democratic political philosophy that can serve as a counterpoint to Plato’s political philosophy in the Republic.

  8. 乌鲁木齐城市化发展对水资源的影响%Influence of Urbanization Growing on Water Resources in Urumqi

    Institute of Scientific and Technical Information of China (English)

    郭兴芬; 高敏华; 张小娟

    2012-01-01

    城市化发展与水资源利用呈线性完全相关关系,城市化的程度越高对水资源的需求量就越大。随着城市化发展进程的不断扩大,引起了一系列水文水资源问题,因而研究城市化发展对水资源产生的影响势在必行。%Urbanization is one of the main features of economic development in China, urbanization growing has led to a se- ries of hydrology and water resources problems. On the basis of the analysis of urbanization influence on urban rainfall, evap- oration, runoff, water quality and groundwater resources, a mathematical model between the degree of urbanization and the consumption of water resources is put forward in Urumqi. The mathematical model is analyzed and a conclusion is gained that the growing of urbanization and water resources consumption have a complete linear relation , and that the higher the urbani- zation level is the higher the water resource is consumpted.

  9. Cicerono Ketvirtoji Filipika: monologo virsmas dialogu | Cicero’s Forth Philippic: monologue into dialogue

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    Audronė Kučinskienė

    2007-01-01

    Full Text Available The publication consists of the first published translation of Cicero’s Fourth Philippic into Lithuanian, accompanied by an article which analyses the phenomenon of dialogicity in the rhetorical speech as a literary genre. The reaction of the audience, incorporated into the text of the speech, creates the semblance of a dialogue between the orator and his listeners. The Fourth Philippic is the best extant example of this phenomenon, as the reaction of the audience here functions not only in certain individual episodes of the speech, as is the case in other Cicero’s speeches, but becomes the principal rhetorical device on which the whole strategy of the speech is built. We argue that by emphatic interpretation of the audience’s reaction as full and unanimous assent to his statements, Cicero intends to theatrically convey the main message of the speech: the apparent consensus between the people and the senate, as well as his own role as the leader of the Roman people.

  10. Fatalism and its implications for risky road use and receptiveness to safety messages: a qualitative investigation in Pakistan.

    Science.gov (United States)

    Kayani, A; King, M J; Fleiter, J J

    2012-12-01

    Given the increasing vehicle numbers and expanding road construction in developing countries, the importance of safe road user behaviour is critical. Road traffic crashes (RTCs) are a significant problem in Pakistan; however, the factors that contribute to RTCs in Pakistan are not well researched. Fatalistic beliefs are a potential barrier to the enhancement of road safety, especially participation in health-promoting and injury prevention behaviours, and also contribute to risk taking. Fatalistic beliefs relating to road safety have been found in some developing countries, although research is scarce and indicates that the nature and extent of fatalism differs in each country. Qualitative research was undertaken with a range of drivers, religious orators, police and policy makers to explore associations between fatalism, risky road use and associated issues. Findings indicate that fatalistic beliefs are pervasive in Pakistan, are strongly linked with religion, present a likely barrier to road safety messages and contribute to risky road use. Fatalism appears to be a default attribution of RTC and the intensity of belief in fate surpasses the kinds of fatalism noted in the limited existing literature. These findings have importance to developing road safety countermeasures in countries where fatalistic beliefs are strong.

  11. An ethnography of reading in a spiritist study group

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    Bernardo Lewgoy

    Full Text Available As a religion, Kardecism confers fundamental importance to the study of its own body of literature, understood as the complement to religious revelation. Based upon ethnographic research in a traditional middle-class Kardecist centre in Porto Alegre, this article examines some ways through which the Kardecists, structured in small groups, interact with this written tradition. The group is fundamental in forming a spiritist identity for two reasons: firstly, it delimits internal alliances, whether or not these are translated into differences in doctrinal views. Secondly, it is one of the spaces in which the spiritist orator is formed by learning to make use of formulas extracted from a specific repertoire. Inspired by the discussions on orality and literacy and by the recent proposal for an ethnography of reading (Boyarin 1993, I aim to show that, if the spiritist speech is constructed as orality supported by texts, there are also very important informal dimensions to be considered which contextualize and actualize these group’s relation with sacred texts.

  12. "Manyoushu"Waka under the Influence of Chinese Culture of Plum Blossom---In"Plum Blossom in the Snow"Waka as an Example%中国梅文化影响下的《万叶集》和歌--以“雪中梅花”和歌为例

    Institute of Scientific and Technical Information of China (English)

    林秀珍

    2015-01-01

    The plum blossom is one of the distinguished traditonal Chinese flowers,whose culture and literature is profound.A-bout 700 AD,the plum blossom was spread to Japan from China.Plum blossom from China was appreciated and loved by the nobles and the poets wrote a lot of waka about the plum blossom.This paper from the view of "Plum blossom in the snow"elab-orates how Chinese traditional culture of plum blossom affects "manyou"waka.%梅花是中国的传统名花,中国的梅花文化及文学资历十分深厚,公元700年左右梅花由中国传到日本。从中国传入的梅花受到贵族们的欣赏和喜爱,《万叶集》的诗人们写了很多梅花的和歌,本文从“雪中梅“着手阐述中国传统梅文化如何对《万叶集》的和歌产生影响。

  13. 林则徐与海神祭祀%Lin Ze-xu and Sacrifice to the God of Sea

    Institute of Scientific and Technical Information of China (English)

    朱慧

    2013-01-01

    Lin Ze-xu is a progressive thinker and great patriot in the history of modern China, and is a devout theist at the same time. He led the splendid action of destroying opium stocks in Humen Beach, which is a glorious page in Chinese history, moreover, he left us a famous immortal literary piece, a Funeral Oration to the God of Sea, declaring to the world our Chinese people’s decision to ban opium and refuse drugs.%林则徐是中国近代进步的思想家和伟大的爱国主义者,同时他也是一位虔诚的有神论者。他领导的轰轰烈烈的虎门销烟在中国历史上留下了光辉的一页,也为我们留下了不朽名篇《祭海神文》,向世界宣告了中国禁烟和拒毒的决心。

  14. PENDIDIKAN KARAKTER POLA MUHAMMADIYAH (Studi Kasus SMA Muhammadiyah 1 dan MA Muallimin Yogyakarta

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    Kuswono Kuswono

    2013-09-01

    Full Text Available This research aims to find out the sources of character education at Islamic schools, character- building values application and actualization. This research was conducted in SMA Mubammadiyah I Yogyakarta and MA Muallimin Muhammadiyah Yogyakarta.The result of research showed that teacher's perception on character education relied on Islamic precepts to create akhakul karimah-human beings. The sources of character education included Quran and as=Sunnah/Hadist as well as Ijtihad. The character value implantation was carried out through learning in the classroom, precedents from figures, teachers and peers, well-behaving familiarization in the presence of rule and order, personality report, and extracurricular activities in knowledge, skill, sport, art, and organization fields. The form of character-building values actualization emphasized more on the Islamic activities such as collectively shalat, reading and reciting Quran, social service, participating actively in IPM, hizbul wathan, and tapak suci organizational activities. In addition, there were kader inti/an, mubalig jumat, mubalig hijarah, fasting, Friday sermon, becoming the orator in pengajian, and flag ceremony. Such these activities reflected on religious, cooperative, leadership, loving-to-homeland, social care, environmental care, and creative values.Keywords: Education, Character, Muhammadiyah.

  15. Eradicating and eliminating infectious diseases: Past, Present and Future

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    Jai P Narain

    2011-01-01

    Full Text Available During the past 60 years, a number of infectious diseases have been targeted for eradication or elimination, with mixed results. While smallpox is the only one successfully eradicated so far, campaigns on yaws and malaria brought about a dramatic reduction in the incidence in the beginning of the campaign but ultimately could not achieve the desired goal. There is again a renewed interest in disease eradication. The World Health assembly in May 2010 passed a resolution calling for eradication of measles by 2015; the target of polio eradication still remains elusive. In view of these developments, it is appropriate time to revisit the concept of disease eradication and elimination, the achievements and failures of past eradication programmes and reasons thereof, and possibly apply these lessons while planning for the future activities. This paper based on the Dr. A.L.Saha Memorial Oration describes various infectious diseases that have been targeted for eradication or elimination since 1950s, the potential direct and indirect benefits from disease eradication, and the issues and opportunities for the future.

  16. Proactive secret sharing scheme without trusted party%一种无可信中心动态秘密共享方案

    Institute of Scientific and Technical Information of China (English)

    何二庆; 侯整风; 朱晓玲

    2013-01-01

    Some existing secret sharing schemes have not researched the proactive refreshment of new members' secret shares, which greatly reduced the security of the secret sharing system. Against this defect researched, this paper put forward a new proactive secret sharing scheme without trusted part, without exposing the original secret, all members can interact collab-oratively, refresh their secret shares proactively, and add new members. What' s more, new members could also proactively refresh their secret shares with other members at next time period.%现有的无可信中心动态秘密共享方案,尚未对新增成员秘密份额的动态更新问题作相关研究,在很大程度上降低了秘密共享系统的安全性.针对这一缺陷进行研究,提出了一种新的无可信中心动态秘密共享方案,在不暴露原秘密的情况下,成员可以协同交互,动态地更新各自的秘密份额,增加新成员,且新增成员也可以与其他成员协同参加下一轮秘密份额的动态更新.

  17. Space Transportation System Liftoff Debris Mitigation Process Overview

    Science.gov (United States)

    Mitchell, Michael; Riley, Christopher

    2011-01-01

    Liftoff debris is a top risk to the Space Shuttle Vehicle. To manage the Liftoff debris risk, the Space Shuttle Program created a team with in the Propulsion Systems Engineering & Integration Office. The Shutt le Liftoff Debris Team harnesses the Systems Engineering process to i dentify, assess, mitigate, and communicate the Liftoff debris risk. T he Liftoff Debris Team leverages off the technical knowledge and expe rtise of engineering groups across multiple NASA centers to integrate total system solutions. These solutions connect the hardware and ana lyses to identify and characterize debris sources and zones contribut ing to the Liftoff debris risk. The solutions incorporate analyses sp anning: the definition and modeling of natural and induced environmen ts; material characterizations; statistical trending analyses, imager y based trajectory analyses; debris transport analyses, and risk asse ssments. The verification and validation of these analyses are bound by conservative assumptions and anchored by testing and flight data. The Liftoff debris risk mitigation is managed through vigilant collab orative work between the Liftoff Debris Team and Launch Pad Operation s personnel and through the management of requirements, interfaces, r isk documentation, configurations, and technical data. Furthermore, o n day of launch, decision analysis is used to apply the wealth of ana lyses to case specific identified risks. This presentation describes how the Liftoff Debris Team applies Systems Engineering in their proce sses to mitigate risk and improve the safety of the Space Shuttle Veh icle.

  18. "Peintre de Sa Majesté Britannique". Franz Adolph of Freenthal and his portrait of Maximilian Hamilton, Prince-Bishop of Olomouc

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    Suchánek, Pavel

    2012-09-01

    Full Text Available This essay examines the portrait of Maximilian von Hamilton (1714-1776, the last Prince-Bishop of Olomouc/Olmütz, painted between 1769 and 1772 by Franz Adolph of Freenthal (1721-1773, a former painter to the British royal court. The study focuses in turn on three visual motifs in Hamilton's portrait: the rhetorical gestures of the sitter, his attire and the way he is depicted, and the form of presentation and the function of the painting in the ceremonial space of the princely residence. In examining each of these motifs, account is taken of the specific visual conventions applied in this genre, and of the contemporary rules of visual rhetoric. By referencing the classical motif of modesty and moderation from antiquity, Adolph underlined the importance of the ideal of antiquity and with it "natural" speech and behaviour. He attempted to express the spirit of antiquity by comparing contemporary clothing and rhetorical gestures to those of the orators or other public figures of antiquity. In a similar way to contemporary British painters, he thus referenced models taken from antiquity, with the aim of evoking a noble past and representing the ideal of the virtue of antiquity.

  19. GeoNode condivisione di dati e applicazioni territoriali

    Directory of Open Access Journals (Sweden)

    Simone Dalmasso

    2012-04-01

    Full Text Available Negli ultimi anni si è passati da un sistema in cui la priorità era reperire le informazioni ad un sistema in cui la priorità è gestire l’imponente mole di dati disponibili e soprattutto rendere questi dati utili, cioè condividerli pensando anche ad un’utenza non necessariamente tecnica. GeoNode  sharing  of  spatial  data  and land applicationsGeoNode is an open source platform that facilitates the creation, sharing, and collab-orative use of geospatial data. The project aims to surpass existing spatial data infra-structure  solutions  by  integrating  robust social and cartographic tools.At its core, the GeoNode has a stack based on  GeoServer,  Django,  and  GeoExt  that provides a platform for sophisticated web browser  spatial  visualization  and  analysis (excerpt from GeoNode website.

  20. One night of sleep loss impairs innovative thinking and flexible decision making.

    Science.gov (United States)

    Harrison, Y; Horne, J A

    1999-05-01

    Recent findings with clinically oriented neuropsychological tests suggest that one night without sleep causes particular impairment to tasks requiring flexible thinking and the updating of plans in the light of new information. This relatively little investigated field of sleep deprivation research has real-world implications for decision makers having lost a night's sleep. To explore this latter perspective further, we adapted a dynamic and realistic marketing decision making "game" embodying the need for these skills, and whereby such performance could be measured. As the task relied on the comprehension of a large amount of written information, a critical reasoning test was also administered to ascertain whether any failure at the marketing game might lie with information acquisition rather than with failures in decision making. Ten healthy highly motivated and trained participants underwent two counterbalanced 36 h trials, sleep vs no sleep. The critical reasoning task was unaffected by sleep loss, whereas performance at the game significantly deteri orated after 32-36 h of sleep loss, when sleep deprivation led to more rigid thinking, increased perseverative errors, and marked difficulty in appreciating an updated situation. At this point, and despite the sleep-deprived participants' best efforts to do well, their play collapsed, unlike that of the nonsleep-deprived participants. Copyright 1999 Academic Press.