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Sample records for n-ethyl-n-nitrosourea-induced mutation called

  1. N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: An animal model for human carbonic anhydrase II deficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, S.E.; Barnett, L.B. (Research Triangle Institute, Research Triangle Park, NC (USA)); Erickson, R.P.; Venta, P.J.; Tashian, R.E. (Univ. of Michigan Medical School, Ann Arbor (USA))

    1988-03-01

    Electrophoretic screening of (C57BL/6J x DBA/2J)F{sub 1} progeny of male mice treated with N-ethyl-N-nitrosourea revealed a mouse that lacked the paternal carbonic anhydrase II (Ca II). Breeding tests showed that this trait was heritable and due to a null mutation at the Car-2 locus on chromosome 3. Like humans with the same inherited enzyme defect, animals homozygous for the new null allele are runted and have renal tubular acidosis. However, the prominent osteopetrosis found in humans with CA II deficiency could be detected even in very old homozygous null mice. A molecular analysis of the deficient mice shows that the mutant gene is not deleted and is transcribed. The CA II protein, which is normally expressed in most tissues, could not be detected by immunodiffusion analysis in any tissues of the CA II-deficient mice, suggesting a nonsense or a missense mutation at the Car-2 locus.

  2. A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model.

    Science.gov (United States)

    Abe, Koichiro; Fuchs, Helmut; Boersma, Auke; Hans, Wolfgang; Yu, Philipp; Kalaydjiev, Svetoslav; Klaften, Matthias; Adler, Thure; Calzada-Wack, Julia; Mossbrugger, Ilona; Rathkolb, Birgit; Rozman, Jan; Prehn, Cornelia; Maraslioglu, Miriam; Kametani, Yoshie; Shimada, Shin; Adamski, Jerzy; Busch, Dirk H; Esposito, Irene; Klingenspor, Martin; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valerie; Katan, Matilda; Marschall, Susan; Soewarto, Dian; Wagner, Sibylle; de Angelis, Martin Hrabě

    2011-05-01

    It is difficult to identify a single causative factor for inflammatory arthritis because of the multifactorial nature of the disease. This study was undertaken to dissect the molecular complexity of systemic inflammatory disease, utilizing a combined approach of mutagenesis and systematic phenotype screening in a murine model. In a large-scale N-ethyl-N-nitrosourea mutagenesis project, the Ali14 mutant mouse strain was established because of dominant inheritance of spontaneous swelling and inflammation of the hind paws. Genetic mapping and subsequent candidate gene sequencing were conducted to find the causative gene, and systematic phenotyping of Ali14/+ mice was performed in the German Mouse Clinic. A novel missense mutation in the phospholipase Cγ2 gene (Plcg2) was identified in Ali14/+ mice. Because of the hyperreactive external entry of calcium observed in cultured B cells and other in vitro experiments, the Ali14 mutation is thought to be a novel gain-of-function allele of Plcg2. Findings from systematic screening of Ali14/+ mice demonstrated various phenotypic changes: an abnormally high T cell:B cell ratio, up-regulation of Ig, alterations in body composition, and a reduction in cholesterol and triglyceride levels in peripheral blood. In addition, spermatozoa from Ali14/+ mice failed to fertilize eggs in vitro, despite the normal fertility of the Ali14/+ male mice in vivo. These results suggest that the Plcg2-mediated pathways play a crucial role in various metabolic and sperm functions, in addition to initiating and maintaining the immune system. These findings may indicate the importance of the Ali14/+ mouse strain as a model for systemic inflammatory diseases and inflammation-related metabolic changes in humans. Copyright © 2011 by the American College of Rheumatology.

  3. Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.

    Science.gov (United States)

    Chen, Bing; Ouyang, Hui-Ling; Wang, Wen-Hua; Yin, Yi-Heng; Yan, Lin-Na; Yang, Bin; Xue, Zheng-Feng

    2016-07-29

    Hirschsprung disease (HSCR), or colonic aganglionosis, is a congenital disorder characterized by the absence of intramural ganglia along variable lengths of the colon, resulting in intestinal obstruction. It is the most common cause of congenital intestinal obstruction, with an incidence of 1 in 5,000 live births. N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is a powerful tool for the study of gene function and the generation of human disease models. In the current study, a novel mutant mouse with aganglionic megacolon and coat color spotting was generated by ENU-induced mutagenesis. Histological and acetylcholinesterase (AChE) whole-mount staining analysis showed a lack of ganglion cells in the colon in mutant mice. The mutation was mapped to chromosome 14 between markers rs30928624 and D14Mit205 (Chr 14 positions 103723921 bp and 105054651 bp). The Ednrb (Chr 14 position 103814625-103844173 bp) was identified as a potential candidate gene in this location. Mutation analysis revealed a T>C missense mutation at nucleotide 857 of the cDNA encoding endothelin receptor B (EDNRB) in which a proline was substituted for the highly conserved Lys-286 residue (L286P) in the fifth transmembrane (TM V) domain of this G protein-coupled receptor. The mutant mouse was named Ednrb(m1yzcm) (Ednrb; mutation 1, Yangzhou University Comparative Medicine Center). The results of the present study implicate the structural importance of the TM V domain in Ednrb function, and the Ednrb(m1yzcm) mouse represents a valuable model for the study of HSCR in humans.

  4. The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

    OpenAIRE

    Cross, Sally H.; McKie, Lisa; West, Katrine; Coghill, Emma L.; Favor, Jack; Bhattacharya, Shoumo; Brown, Steve D M; Jackson, Ian J

    2011-01-01

    Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence of any retinal defects. Here we report an N-ethyl-N-nitrosourea-induced mouse mutation, Opdc, which ...

  5. Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.

    Directory of Open Access Journals (Sweden)

    Jeremy O Ward

    2007-08-01

    Full Text Available Crossing over during meiotic prophase I is required for sexual reproduction in mice and contributes to genome-wide genetic diversity. Here we report on the characterization of an N-ethyl-N-nitrosourea-induced, recessive allele called mei4, which causes sterility in both sexes owing to meiotic defects. In mutant spermatocytes, chromosomes fail to congress properly at the metaphase plate, leading to arrest and apoptosis before the first meiotic division. Mutant oocytes have a similar chromosomal phenotype but in vitro can undergo meiotic divisions and fertilization before arresting. During late meiotic prophase in mei4 mutant males, absence of cyclin dependent kinase 2 and mismatch repair protein association from chromosome cores is correlated with the premature separation of bivalents at diplonema owing to lack of chiasmata. We have identified the causative mutation, a transversion in the 5' splice donor site of exon 1 in the mouse ortholog of Human Enhancer of Invasion 10 (Hei10; also known as Gm288 in mouse and CCNB1IP1 in human, a putative B-type cyclin E3 ubiquitin ligase. Importantly, orthologs of Hei10 are found exclusively in deuterostomes and not in more ancestral protostomes such as yeast, worms, or flies. The cloning and characterization of the mei4 allele of Hei10 demonstrates a novel link between cell cycle regulation and mismatch repair during prophase I.

  6. Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

    Science.gov (United States)

    Burnicka-Turek, Ozanna; Steimle, Jeffrey D; Huang, Wenhui; Felker, Lindsay; Kamp, Anna; Kweon, Junghun; Peterson, Michael; Reeves, Roger H; Maslen, Cheryl L; Gruber, Peter J; Yang, Xinan H; Shendure, Jay; Moskowitz, Ivan P

    2016-07-15

    Atrioventricular septal defects (AVSDs) are a common severe form of congenital heart disease (CHD). In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and Mks1, in independent N-ethyl-N-nitrosourea-induced mouse mutant lines with heritable recessive AVSDs by whole-exome sequencing. Cilia are required for left/right body axis determination and second heart field (SHF) Hedgehog (Hh) signaling, and we find that cilia mutations affect these requirements differentially. Dnah11avc4 did not disrupt SHF Hh signaling and caused AVSDs only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1avc6 disrupted SHF Hh signaling and caused AVSDs without heterotaxy. We performed unbiased whole-genome SHF transcriptional profiling and found that cilia motility genes were not expressed in the SHF whereas cilia structural and signaling genes were highly expressed. SHF cilia gene expression predicted the phenotypic concordance between AVSDs and heterotaxy in mice and humans with cilia gene mutations. A two-step model of cilia action accurately predicted the AVSD/heterotaxyu phenotypic expression pattern caused by cilia gene mutations. We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans and provide a model that predicts the phenotypic consequences of specific cilia gene mutations. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  7. The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

    Science.gov (United States)

    Cross, Sally H; McKie, Lisa; West, Katrine; Coghill, Emma L; Favor, Jack; Bhattacharya, Shoumo; Brown, Steve D M; Jackson, Ian J

    2011-01-15

    Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence of any retinal defects. Here we report an N-ethyl-N-nitrosourea-induced mouse mutation, Opdc, which is an isoleucinetothreonine missense mutation, I40T, in the first α-helix of the Pax2 paired domain. The mutant protein binds target DNA sequences less strongly than the wild-type protein and acts poorly to transactivate target promoters in culture. The phenotypic consequence of this mutation on the development of the eye and ear is similar to that reported for null alleles of Pax2. However, in homozygotes, cerebellar development is normal on a genetic background in which loss of Pax2 results in failure of cerebellar formation. Moreover, there is a genetic background effect on the heterozygous phenotype such that on some strain backgrounds, kidney development is unaffected. Opdc is the first hypomorphic mutation reported for Pax2 that differs in phenotype from loss-of-function mutations. These results suggest that PAX2 is a strong candidate gene for cases in which human patients have optic disc coloboma not associated with renal dysplasia.

  8. Mutation at the Evi1 locus in Junbo mice causes susceptibility to otitis media.

    Directory of Open Access Journals (Sweden)

    Nicholas Parkinson

    2006-10-01

    Full Text Available Otitis media (OM, inflammation of the middle ear, remains the most common cause of hearing impairment in children. It is also the most common cause of surgery in children in the developed world. There is evidence from studies of the human population and mouse models that there is a significant genetic component predisposing to OM, yet nothing is known about the underlying genetic pathways involved in humans. We identified an N-ethyl-N-nitrosourea-induced dominant mouse mutant Junbo with hearing loss due to chronic suppurative OM and otorrhea. This develops from acute OM that arises spontaneously in the postnatal period, with the age of onset and early severity dependent on the microbiological status of the mice and their air quality. We have identified the causal mutation, a missense change in the C-terminal zinc finger region of the transcription factor Evi1. This protein is expressed in middle ear basal epithelial cells, fibroblasts, and neutrophil leukocytes at postnatal day 13 and 21 when inflammatory changes are underway. The identification and characterization of the Junbo mutant elaborates a novel role for Evi1 in mammalian disease and implicates a new pathway in genetic predisposition to OM.

  9. A missense mutation in Rev7 disrupts formation of Polζ, impairing mouse development and repair of genotoxic agent-induced DNA lesions.

    Science.gov (United States)

    Khalaj, Maryam; Abbasi, Abdolrahim; Yamanishi, Hiroshi; Akiyama, Kouyou; Wakitani, Shuso; Kikuchi, Sotaro; Hirose, Michiko; Yuzuriha, Misako; Magari, Masaki; Degheidy, Heba A; Abe, Kuniya; Ogura, Atsuo; Hashimoto, Hiroshi; Kunieda, Tetsuo

    2014-02-07

    Repro22 is a mutant mouse produced via N-ethyl-N-nitrosourea-induced mutagenesis that shows sterility with germ cell depletion caused by defective proliferation of primordial germ cells, decreased body weight, and partial lethality during embryonic development. Using a positional cloning strategy, we identified a missense mutation in Rev7/Mad2l2 (Rev7(C70R)) and confirmed that the mutation is the cause of the defects in repro22 mice through transgenic rescue with normal Rev7. Rev7/Mad2l2 encodes a subunit of DNA polymerase ζ (Polζ), 1 of 10 translesion DNA synthesis polymerases known in mammals. The mutant REV7 did not interact with REV3, the catalytic subunit of Polζ. Rev7(C70R/C70R) cells showed decreased proliferation, increased apoptosis, and arrest in S phase with extensive γH2AX foci in nuclei that indicated accumulation of DNA damage after treatment with the genotoxic agent mitomycin C. The Rev7(C70R) mutation does not affect the mitotic spindle assembly checkpoint. These results demonstrated that Rev7 is essential in resolving the replication stalls caused by DNA damage during S phase. We concluded that Rev7 is required for primordial germ cell proliferation and embryonic viability and development through the translesion DNA synthesis activity of Polζ preserving DNA integrity during cell proliferation, which is required in highly proliferating embryonic cells.

  10. A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

    Science.gov (United States)

    Cross, Sally H; Macalinao, Danilo G; McKie, Lisa; Rose, Lorraine; Kearney, Alison L; Rainger, Joe; Thaung, Caroline; Keighren, Margaret; Jadeja, Shalini; West, Katrine; Kneeland, Stephen C; Smith, Richard S; Howell, Gareth R; Young, Fiona; Robertson, Morag; van T' Hof, Rob; John, Simon W M; Jackson, Ian J

    2014-05-01

    Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb dorsal-ventral patterning and is also required for kidney and eye development, midbrain-hindbrain boundary establishment and the specification of specific neuronal subtypes. Mice completely deficient for Lmx1b die at birth. In contrast to the situation in humans, heterozygous null mice do not have a mutant phenotype. Here we report a novel mouse mutant Icst, an N-ethyl-N-nitrosourea-induced missense substitution, V265D, in the homeodomain of LMX1B that abolishes DNA binding and thereby the ability to transactivate other genes. Although the homozygous phenotypic consequences of Icst and the null allele of Lmx1b are the same, heterozygous Icst elicits a phenotype whilst the null allele does not. Heterozygous Icst causes glaucomatous eye defects and is semi-lethal, probably due to kidney failure. We show that the null phenotype is rescued more effectively by an Lmx1b transgene than is Icst. Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1), resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes. We conclude that Icst is a dominant-negative allele of Lmx1b. These findings indicate a reassessment of whether nail-patella syndrome is always haploinsufficient. Furthermore, Icst is a rare example of a model of human glaucoma caused by mutation of the same gene in humans and mice.

  11. A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

    Directory of Open Access Journals (Sweden)

    Sally H Cross

    2014-05-01

    Full Text Available Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb dorsal-ventral patterning and is also required for kidney and eye development, midbrain-hindbrain boundary establishment and the specification of specific neuronal subtypes. Mice completely deficient for Lmx1b die at birth. In contrast to the situation in humans, heterozygous null mice do not have a mutant phenotype. Here we report a novel mouse mutant Icst, an N-ethyl-N-nitrosourea-induced missense substitution, V265D, in the homeodomain of LMX1B that abolishes DNA binding and thereby the ability to transactivate other genes. Although the homozygous phenotypic consequences of Icst and the null allele of Lmx1b are the same, heterozygous Icst elicits a phenotype whilst the null allele does not. Heterozygous Icst causes glaucomatous eye defects and is semi-lethal, probably due to kidney failure. We show that the null phenotype is rescued more effectively by an Lmx1b transgene than is Icst. Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1, resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes. We conclude that Icst is a dominant-negative allele of Lmx1b. These findings indicate a reassessment of whether nail-patella syndrome is always haploinsufficient. Furthermore, Icst is a rare example of a model of human glaucoma caused by mutation of the same gene in humans and mice.

  12. A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

    Science.gov (United States)

    Cross, Sally H.; Macalinao, Danilo G.; McKie, Lisa; Rose, Lorraine; Kearney, Alison L.; Rainger, Joe; Thaung, Caroline; Keighren, Margaret; Jadeja, Shalini; West, Katrine; Kneeland, Stephen C.; Smith, Richard S.; Howell, Gareth R.; Young, Fiona; Robertson, Morag; van t' Hof, Rob; John, Simon W. M.; Jackson, Ian J.

    2014-01-01

    Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb dorsal-ventral patterning and is also required for kidney and eye development, midbrain-hindbrain boundary establishment and the specification of specific neuronal subtypes. Mice completely deficient for Lmx1b die at birth. In contrast to the situation in humans, heterozygous null mice do not have a mutant phenotype. Here we report a novel mouse mutant Icst, an N-ethyl-N-nitrosourea-induced missense substitution, V265D, in the homeodomain of LMX1B that abolishes DNA binding and thereby the ability to transactivate other genes. Although the homozygous phenotypic consequences of Icst and the null allele of Lmx1b are the same, heterozygous Icst elicits a phenotype whilst the null allele does not. Heterozygous Icst causes glaucomatous eye defects and is semi-lethal, probably due to kidney failure. We show that the null phenotype is rescued more effectively by an Lmx1b transgene than is Icst. Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1), resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes. We conclude that Icst is a dominant-negative allele of Lmx1b. These findings indicate a reassessment of whether nail-patella syndrome is always haploinsufficient. Furthermore, Icst is a rare example of a model of human glaucoma caused by mutation of the same gene in humans and mice. PMID:24809698

  13. Somatic point mutation calling in low cellularity tumors.

    Directory of Open Access Journals (Sweden)

    Karin S Kassahn

    Full Text Available Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping. Tumor cellularity or purity, sub-clonality and copy number changes also confound the identification of true somatic events against a background of germline variants. We have developed a heuristic strategy and software (http://www.qcmg.org/bioinformatics/qsnp/ for somatic mutation calling in samples with low tumor content and we show the superior sensitivity and precision of our approach using a previously sequenced cell line, a series of tumor/normal admixtures, and 3,253 putative somatic SNVs verified on an orthogonal platform.

  14. Statistical Mutation Calling from Sequenced Overlapping DNA Pools in TILLING Experiments

    Directory of Open Access Journals (Sweden)

    Comai Luca

    2011-07-01

    Full Text Available Abstract Background TILLING (Targeting induced local lesions IN genomes is an efficient reverse genetics approach for detecting induced mutations in pools of individuals. Combined with the high-throughput of next-generation sequencing technologies, and the resolving power of overlapping pool design, TILLING provides an efficient and economical platform for functional genomics across thousands of organisms. Results We propose a probabilistic method for calling TILLING-induced mutations, and their carriers, from high throughput sequencing data of overlapping population pools, where each individual occurs in two pools. We assign a probability score to each sequence position by applying Bayes' Theorem to a simplified binomial model of sequencing error and expected mutations, taking into account the coverage level. We test the performance of our method on variable quality, high-throughput sequences from wheat and rice mutagenized populations. Conclusions We show that our method effectively discovers mutations in large populations with sensitivity of 92.5% and specificity of 99.8%. It also outperforms existing SNP detection methods in detecting real mutations, especially at higher levels of coverage variability across sequenced pools, and in lower quality short reads sequence data. The implementation of our method is available from: http://www.cs.ucdavis.edu/filkov/CAMBa/.

  15. Identifying and calling insertions, deletions, and single-base mutations efficiently from sequence data

    Science.gov (United States)

    Whole genome sequencing studies can directly identify causative mutations for subsequent use in genomic evaluations, but sequence variant identification is a lengthy and sometimes inaccurate process. The speed and accuracy of identifying small insertions and deletions of sequence, collectively terme...

  16. The Ancestral Gene for Transcribed, Low-Copy Repeats in the Prader-Willi/Angleman Region Encodes a Large Protein Implicated in Protein Trafficking that is Deficient in Mice with Neuromuscular and

    Energy Technology Data Exchange (ETDEWEB)

    Ji, Y.

    1999-01-01

    Transcribed, low-copy repeat elements are associated with the breakpoint regions of common deletions in Prader-Willi and Angelman syndromes. We report here the identification of the ancestral gene ( HERC2 ) and a family of duplicated, truncated copies that comprise these low-copy repeats. This gene encodes a highly conserved giant protein, HERC2, that is distantly related to p532 (HERC1), a guanine nucleotide exchange factor (GEF) implicated in vesicular trafficking. The mouse genome contains a single Herc2 locus, located in the jdf2 (juvenile development and fertility-2) interval of chromosome 7C. We have identified single nucleotide splice junction mutations in Herc2 in three independent N-ethyl-N-nitrosourea-induced jdf2 mutant alleles, each leading to exon skipping with premature termination of translation and/or deletion of conserved amino acids. Therefore, mutations in Herc2 lead to the neuromuscular secretory vesicle and sperm acrosome defects, other developmental abnormalities and juvenile lethality of jdf2 mice. Combined, these findings suggest that HERC2 is an important gene encoding a GEF involved in protein trafficking and degradation pathways in the cell.

  17. CARIAA Call - Call Document

    International Development Research Centre (IDRC) Digital Library (Canada)

    CARIAA

    2013-02-19

    Feb 19, 2013 ... Canada's International Development Research Centre (IDRC) is pleased to announce a call for concept notes as part of the Collaborative Adaptation Research Initiative in Africa and Asia (CARIAA) program. Funded by IDRC and the United Kingdom's Department for International Development (DFID), ...

  18. Loss of T cell and B cell quiescence precedes the onset of microbial flora-dependent wasting disease and intestinal inflammation in Gimap5-deficient mice.

    Science.gov (United States)

    Barnes, Michael J; Aksoylar, Halil; Krebs, Philippe; Bourdeau, Tristan; Arnold, Carrie N; Xia, Yu; Khovananth, Kevin; Engel, Isaac; Sovath, Sosathya; Lampe, Kristin; Laws, Eleana; Saunders, Amy; Butcher, Geoffrey W; Kronenberg, Mitchell; Steinbrecher, Kris; Hildeman, David; Grimes, H Leighton; Beutler, Bruce; Hoebe, Kasper

    2010-04-01

    Homeostatic control of the immune system involves mechanisms that ensure the self-tolerance, survival and quiescence of hematopoietic-derived cells. In this study, we demonstrate that the GTPase of immunity associated protein (Gimap)5 regulates these processes in lymphocytes and hematopoietic progenitor cells. As a consequence of a recessive N-ethyl-N-nitrosourea-induced germline mutation in the P-loop of Gimap5, lymphopenia, hepatic extramedullary hematopoiesis, weight loss, and intestinal inflammation occur in homozygous mutant mice. Irradiated fetal liver chimeric mice reconstituted with Gimap5-deficient cells lose weight and become lymphopenic, demonstrating a hematopoietic cell-intrinsic function for Gimap5. Although Gimap5-deficient CD4(+) T cells and B cells appear to undergo normal development, they fail to proliferate upon Ag-receptor stimulation although NF-kappaB, MAP kinase and Akt activation occur normally. In addition, in Gimap5-deficient mice, CD4(+) T cells adopt a CD44(high)CD62L(low)CD69(low) phenotype and show reduced IL-7ralpha expression, and T-dependent and T-independent B cell responses are abrogated. Thus, Gimap5-deficiency affects a noncanonical signaling pathway required for Ag-receptor-induced proliferation and lymphocyte quiescence. Antibiotic-treatment or the adoptive transfer of Rag-sufficient splenocytes ameliorates intestinal inflammation and weight loss, suggesting that immune responses triggered by microbial flora causes the morbidity in Gimap5-deficient mice. These data establish Gimap5 as a key regulator of hematopoietic integrity and lymphocyte homeostasis.

  19. EMERGENCY CALLS

    CERN Document Server

    2001-01-01

    IN URGENT NEED OF A DOCTOR GENEVA EMERGENCY SERVICES GENEVA AND VAUD 144 FIRE BRIGADE 118 POLICE 117 CERN FIREMEN 767-44-44 ANTI-POISONS CENTRE Open 24h/24h 01-251-51-51 Patient not fit to be moved, call family doctor, or: GP AT HOME, open 24h/24h 748-49-50 Association Of Geneva Doctors Emergency Doctors at home 07h-23h 322 20 20 Patient fit to be moved: HOPITAL CANTONAL CENTRAL 24 Micheli-du-Crest 372-33-11 ou 382-33-11 EMERGENCIES 382-33-11 ou 372-33-11 CHILDREN'S HOSPITAL 6 rue Willy-Donzé 372-33-11 MATERNITY 32 bvd.de la Cluse 382-68-16 ou 382-33-11 OPHTHALMOLOGY 22 Alcide Jentzer 382-33-11 ou 372-33-11 MEDICAL CENTRE CORNAVIN 1-3 rue du Jura 345 45 50 HOPITAL DE LA TOUR Meyrin EMERGENCIES 719-61-11 URGENCES PEDIATRIQUES 719-61-00 LA TOUR MEDICAL CENTRE 719-74-00 European Emergency Call 112 FRANCE EMERGENCY SERVICES 15 FIRE BRIGADE 18 POLICE 17 CERN FIREMEN AT HOME 00-41-22-767-44-44 ANTI-POISONS CENTRE Open 24h/24h 04-72-11-69-11 All doctors ...

  20. Call Forecasting for Inbound Call Center

    Directory of Open Access Journals (Sweden)

    Peter Vinje

    2009-01-01

    Full Text Available In a scenario of inbound call center customer service, the ability to forecast calls is a key element and advantage. By forecasting the correct number of calls a company can predict staffing needs, meet service level requirements, improve customer satisfaction, and benefit from many other optimizations. This project will show how elementary statistics can be used to predict calls for a specific company, forecast the rate at which calls are increasing/decreasing, and determine if the calls may stop at some point.

  1. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    STORAGESEVER

    2010-01-04

    Jan 4, 2010 ... About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTA-.

  2. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTAcontaining venous ...

  3. BBCAnalyzer: a visual approach to facilitate variant calling

    OpenAIRE

    Sandmann, S.; Graaf, A.O. de; Dugas, M.

    2017-01-01

    Background Deriving valid variant calling results from raw next-generation sequencing data is a particularly challenging task, especially with respect to clinical diagnostics and personalized medicine. However, when using classic variant calling software, the user usually obtains nothing more than a list of variants that pass the corresponding caller?s internal filters. Any expected mutations (e.g. hotspot mutations), that have not been called by the software, need to be investigated manually...

  4. Call Center Capacity Planning

    DEFF Research Database (Denmark)

    Nielsen, Thomas Bang

    The main topics of the thesis are theoretical and applied queueing theory within a call center setting. Call centers have in recent years become the main means of communication between customers and companies, and between citizens and public institutions. The extensively computerized infrastructu...

  5. Call 1 FAQ (ENG)

    International Development Research Centre (IDRC) Digital Library (Canada)

    Francine Sinzinkayo

    What is your definition of “improvement” in this Call for proposals? “Improvement” as used in this call implies all innovations that may be applied by research teams to ... perform their expected roles and to participate in the overall coordination of partnership activities (including monitoring, reporting, communication, etc.).

  6. Callings and Organizational Behavior

    Science.gov (United States)

    Elangovan, A. R.; Pinder, Craig C.; McLean, Murdith

    2010-01-01

    Current literature on careers, social identity and meaning in work tends to understate the multiplicity, historical significance, and nuances of the concept of calling(s). In this article, we trace the evolution of the concept from its religious roots into secular realms and develop a typology of interpretations using occupation and religious…

  7. Dimensioning large call centers

    NARCIS (Netherlands)

    S.C. Borst (Sem); A. Mandelbaum; M.I. Reiman

    2000-01-01

    textabstractWe develop a framework for asymptotic optimization of a queueing system. The motivation is the staffing problem of call centers with 100's of agents (or more). Such a call center is modeled as an M/M/N queue, where the number of agents~$N$ is large. Within our framework, we determine the

  8. CALL FOR PROPOSALS

    International Development Research Centre (IDRC) Digital Library (Canada)

    Charles

    CALL FOR PROPOSALS. Research Project on: Gender and Enterprise Development in Africa: A Cross-Country Comparative Study. The Institute of Statistical, Social and Economic Research ... calling for research proposals from researchers based in Kenya, Uganda, Mozambique or ... For example, many more women work.

  9. Call 1 FAQ (ENG)

    International Development Research Centre (IDRC) Digital Library (Canada)

    Francine Sinzinkayo

    What is your definition of “improvement” in this Call for proposals? “Improvement” as used in this call implies all innovations that may be applied by research teams to develop a vaccine that is superior to a current one. Examples of improvement are better adjuvant, vaccine delivery systems or formulations that present ...

  10. Assessing call centers’ success:

    Directory of Open Access Journals (Sweden)

    Hesham A. Baraka

    2013-07-01

    This paper introduces a model to evaluate the performance of call centers based on the Delone and McLean Information Systems success model. A number of indicators are identified to track the call center’s performance. Mapping of the proposed indicators to the six dimensions of the D&M model is presented. A Weighted Call Center Performance Index is proposed to assess the call center performance; the index is used to analyze the effect of the identified indicators. Policy-Weighted approach was used to assume the weights with an analysis of different weights for each dimension. The analysis of the different weights cases gave priority to the User satisfaction and net Benefits dimension as the two outcomes from the system. For the input dimensions, higher priority was given to the system quality and the service quality dimension. Call centers decision makers can use the tool to tune the different weights in order to reach the objectives set by the organization. Multiple linear regression analysis was used in order to provide a linear formula for the User Satisfaction dimension and the Net Benefits dimension in order to be able to forecast the values for these two dimensions as function of the other dimensions

  11. Enhanced nurse call systems.

    Science.gov (United States)

    2001-04-01

    This Evaluation focuses on high-end computerized nurse call systems--what we call enhanced systems. These are highly flexible systems that incorporate microprocessor and communications technologies to expand the capabilities of the nurse call function. Enhanced systems, which vary in configuration from one installation to the next, typically consist of a basic system that provides standard nurse call functionality and a combination of additional enhancements that provide the added functionality the facility desires. In this study, we examine the features that distinguish enhanced nurse call systems from nonenhanced systems, focusing on their application and benefit to healthcare facilities. We evaluated seven systems to determine how well they help (1) improve patient care, as well as increase satisfaction with the care provided, and (2) improve caregiver efficiency, as well as increase satisfaction with the work environment. We found that all systems meet these objectives, but not all systems perform equally well for all implementations. Our ratings will help facilities identify those systems that offer the most effective features for their intended use. The study also includes a Technology Management Guide to help readers (1) determine whether they'll benefit from the capabilities offered by enhanced systems and (2) target a system for purchase and equip the system for optimum performance and cost-effective operation.

  12. BRCA1 and BRCA2 Mutations

    Science.gov (United States)

    patient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations OCTOBER 2017 BRCA1 and BRCA2 Mutations Cancer is caused by several different factors. A ... parent to child. Changes in genes are called mutations . Hereditary breast and ovarian cancer (HBOC) syndrome is ...

  13. Call Me Sisyphus

    Science.gov (United States)

    2009-02-01

    Gordon MacKenzie (au- thor of Orbiting the Giant Hairball: A Corporate Fool’s Guide to Surviving with Grace) calls a “plum tree structure” and looked at...ghting.” Editor’s note: In Greek mythology , Sisyphus was condemned to an eternity of punishment in Hades that consisted of rolling a huge boulder to

  14. CALLING AQUARIUM LOVERS...

    CERN Multimedia

    2002-01-01

    CERN's anemones will soon be orphans. We are looking for someone willing to look after the aquarium in the main building, for one year. If you are interested, or if you would like more information, please call 73830. (The anemones living in the aquarium thank you in anticipation.)

  15. Post-call delirium.

    Science.gov (United States)

    Rush, Raphael

    2016-12-01

    Although frequently diagnosed in hospital in-patients, delirium is often recognised but under-reported in the housestaff population. It is estimated that more than 90% of housestaff will experience regular episodes of post-call delirium. This paper identifies diagnostic criteria and discusses approaches to treatment. © 2016 John Wiley & Sons Ltd and The Association for the Study of Medical Education.

  16. A call for surveys

    DEFF Research Database (Denmark)

    Bernstein, Philip A.; Jensen, Christian S.; Tan, Kian-Lee

    2012-01-01

    The database field is experiencing an increasing need for survey papers. We call on more researchers to set aside time for this important writing activity. The database field is growing in population, scope of topics covered, and the number of papers published. Each year, thousands of new papers ...

  17. CIFSRF 2015 Call Document

    International Development Research Centre (IDRC) Digital Library (Canada)

    wmanchur

    2015-02-02

    Feb 2, 2015 ... Cross-cutting priorities. All proposals seeking funds from this call shall clearly speak to the three CIFSRF cross-cutting priorities: a. Gender equality. Proposals need to demonstrate how the project will include women as important players in the scaling up of innovations, as well as key clients and end users.

  18. Flight calls and orientation

    DEFF Research Database (Denmark)

    Larsen, Ole Næsbye; Andersen, Bent Bach; Kropp, Wibke

    2008-01-01

    flight calls was simulated by sequential computer controlled activation of five loudspeakers placed in a linear array perpendicular to the bird's migration course. The bird responded to this stimulation by changing its migratory course in the direction of that of the ‘flying conspecifics' but after about...... 30 minutes it drifted back to its original migration course. The results suggest that songbirds migrating alone at night can use the flight calls from conspecifics as additional cues for orientation and that they may compare this information with other cues to decide what course to keep.......  In a pilot experiment a European Robin, Erithacus rubecula, expressing migratory restlessness with a stable orientation, was video filmed in the dark with an infrared camera and its directional migratory activity was recorded. The flight overhead of migrating conspecifics uttering nocturnal...

  19. A Call for Justice

    OpenAIRE

    Brahmachari, Debahuti

    2015-01-01

    Abstract A new development can be identified within the civil society in Malaysia. A development that has resulted in a general call for justice, voiced through coalition groups that cut across categories of affiliation. This development is triggered by an increasing inculcation of Islamic values into the political system, which has interfered with the understanding of Malaysia as a country that can provide a framework for coexistence within a multicultural society. This thesis seeks ...

  20. Multimodality and CALL

    OpenAIRE

    Guichon, Nicolas; Cohen, Cathy

    2016-01-01

    International audience; This chapter explores the issues pertaining to multimodality, which has always been considered as a defining characteristic of CALL (Chapelle 2009). The chapter begins by critically examining the various definitions of multimodality, especially in the field of second language acquisition and cognitive psychology and explores the distinction between mode, modality and channel. With reference to specific studies conducted in the field, we then investigate the potential o...

  1. BBCAnalyzer: a visual approach to facilitate variant calling.

    Science.gov (United States)

    Sandmann, Sarah; de Graaf, Aniek O; Dugas, Martin

    2017-02-28

    Deriving valid variant calling results from raw next-generation sequencing data is a particularly challenging task, especially with respect to clinical diagnostics and personalized medicine. However, when using classic variant calling software, the user usually obtains nothing more than a list of variants that pass the corresponding caller's internal filters. Any expected mutations (e.g. hotspot mutations), that have not been called by the software, need to be investigated manually. BBCAnalyzer (Bases By CIGAR Analyzer) provides a novel visual approach to facilitate this step of time-consuming, manual inspection of common mutation sites. BBCAnalyzer is able to visualize base counts at predefined positions or regions in any sequence alignment data that are available as BAM files. Thereby, the tool provides a straightforward solution for evaluating any list of expected mutations like hotspot mutations, or even whole regions of interest. In addition to an ordinary textual report, BBCAnalyzer reports highly customizable plots. Information on the counted number of bases, the reference bases, known mutations or polymorphisms, called mutations and base qualities is summarized in a single plot. By uniting this information in a graphical way, the user may easily decide on a variant being present or not - completely independent of any internal filters or frequency thresholds. BBCAnalyzer provides a unique, novel approach to facilitate variant calling where classical tools frequently fail to call. The R package is freely available at http://bioconductor.org . The local web application is available at Additional file 2. A documentation of the R package (Additional file 1) as well as the web application (Additional file 2) with detailed descriptions, examples of all input- and output elements, exemplary code as well as exemplary data are included. A video demonstrates the exemplary usage of the local web application (Additional file 3). Additional file 3: Supplement_3. Video

  2. To be called upon

    DEFF Research Database (Denmark)

    Kublitz, Anja

    2015-01-01

    of the responses to the Arab spring among Danish Muslims, this paper will offer some preliminary reflections on how we can understand ‘the mass’ and an ‘intimacy of the mass’ when the mass is no longer a crowd. According to Marx the mass grows quantitatively from the local to the global, but what happens......When Danish Muslims explain what made them decide to travel to the Middle East and take up arms in the wake of the Arab Spring, they say that they were called upon. Displayed on videos on social media, women and sometimes children begged them to come to their rescue. In light of some...

  3. An Island Called Cuba

    Directory of Open Access Journals (Sweden)

    Jean Stubbs

    2011-06-01

    Full Text Available Review of: An Island Called Home: Returning to Jewish Cuba. Ruth Behar, photographs by Humberto Mayol. New Brunswick NJ: Rutgers University Press, 2007. xiii + 297 pp. (Cloth US$ 29.95 Fidel Castro: My Life: A Spoken Autobiography. Fidel Castro & Ignacio Ramonet. New York: Scribner/Simon & Schuster, 2008. vii + 724 pp. (Paper US$ 22.00, e-book US$ 14.99 Cuba: What Everyone Needs to Know. Julia E. Sweig. New York: Oxford University Press, 2009. xiv + 279 pp. (Paper US$ 16.95 [First paragraph] These three ostensibly very different books tell a compelling story of each author’s approach, as much as the subject matter itself. Fidel Castro: My Life: A Spoken Autobiography is based on a series of long interviews granted by the then-president of Cuba, Fidel Castro, to Spanish-Franco journalist Ignacio Ramonet. Cuba: What Everyone Needs to Know, by U.S. political analyst Julia Sweig, is one of a set country series, and, like Ramonet’s, presented in question/answer format. An Island Called Home: Returning to Jewish Cuba, with a narrative by Cuban-American anthropologist Ruth Behar and photographs by Cuban photographer Humberto Mayol, is a retrospective/introspective account of the Jewish presence in Cuba. While from Ramonet and Sweig we learn much about the revolutionary project, Behar and Mayol convey the lived experience of the small Jewish community against that backdrop.

  4. CALL FOR PARTICIPATION

    Directory of Open Access Journals (Sweden)

    Alejandro Jimenez M.

    2008-10-01

    Full Text Available TRIPLE HELIX VII 7TH BIENNIAL INTERNATIONAL CONFERENCE ON UNIVERSITY, INDUSTRY AND GOVERNMENT LINKAGES “THE ROLE OF TRIPLE HELIX IN THE GLOBAL AGENDA FOR INNOVATION, COMPETITIVENESS AND SUSTAINABILITY” UNIVERSITY OF STRATHCLYDE, GLASGOW, SCOTLAND 17-19 JUNE 2009 CALL FOR PARTICIPATION CLOSING DATE FOR ABSTRACT SUBMISSION – 14 NOVEMBER 2008 Triple Helix VII is an important occasion offering a major platform for the exchange of ideas and experiences - academics will share their insights into the dynamics of collaboration; business and industry will review their plans and indicate future directions; and for government decision makers, will explore new avenues for supporting developments, analysing innovation frameworks and their impact on national and regional economies. A Call for Papers is attached, and further details can be obtained from the Triple Helix VII website: http://www.triple-helix-7.org. We hope the Conference will be of interest to you and look forward to seeing you in Glasgow next year taking part in the Triple Helix VII proceedings. Sheila Forbes Conference Administrator Triple Helix VII

  5. MEDICAL SERVICE - URGENT CALLS

    CERN Document Server

    Service Médical

    2000-01-01

    IN URGENT NEED OF A DOCTOR GENEVA: EMERGENCY SERVICES GENEVA AND VAUD 144 FIRE BRIGADE 118 POLICE 117 CERN FIREMEN 767-44-44 ANTI-POISONS CENTRE Open 24h/24h 01-251-51-51 Patient not fit to be moved, call family doctor, or: GP AT HOME: Open 24h/24h 748-49-50 AMG- Association Of Geneva Doctors: Emergency Doctors at home 07h-23h 322 20 20 Patient fit to be moved: HOPITAL CANTONAL CENTRAL 24 Micheli-du-Crest 372-33-11 ou 382-33-11 EMERGENCIES 382-33-11 ou 372-33-11 CHILDREN'S HOSPITAL 6 rue Willy-Donzé 372-33-11 MATERNITY 32 bvd.de la Cluse 382-68-16 ou 382-33-11 OPHTHALMOLOGY 22 Alcide Jentzer 382-33-11 ou 372-33-11 MEDICAL CENTRE CORNAVIN 1-3 rue du Jura 345 45 50 HOPITAL DE LA TOUR Meyrin 719-61-11 EMERGENCIES 719-61-11 CHILDREN'S EMERGENCIES 719-61-00 LA TOUR MEDICAL CENTRE 719-74-00 European Emergency Call 112   FRANCE: EMERGENCY SERVICES 15 FIRE BRIGADE 18 POLICE 17 CERN FIREMEN AT HOME 00-41-22-767-44-44 ...

  6. Call for volunteers

    CERN Multimedia

    2008-01-01

    CERN is calling for volunteers from all members of the Laboratory for organizing the two exceptional Open days.CERN is calling for volunteers from all members of the Laboratory’s personnel to help with the organisation of these two exceptional Open Days, for the visits of CERN personnel and their families on the Saturday and above all for the major public Open Day on the Sunday. As for the 50th anniversary in 2004, the success of the Open Days will depend on a large number of volunteers. All those working for CERN as well as retired members of the personnel can contribute to making this event a success. Many guides will be needed at the LHC points, for the activities at the surface and to man the reception and information points. The aim of these major Open Days is to give the local populations the opportunity to discover the fruits of almost 20 years of work carried out at CERN. We are hoping for some 2000 volunteers for the two Open Days, on the Saturday from 9 a.m. to ...

  7. Geneticists Repair Mutation in Human Embryo

    Science.gov (United States)

    ... broke the mutated gene using a technology called CRISPR-Cas9. Essentially, the process uses genetic techniques to target ... like a pair of molecular scissors. Until now, CRISPR-Cas9 has been used as a lab tool to ...

  8. Msx1 Mutations

    Science.gov (United States)

    Wang, Y.; Kong, H.; Mues, G.; D’Souza, R.

    2011-01-01

    Mutations in the transcription factors PAX9 and MSX1 cause selective tooth agenesis in humans. In tooth bud mesenchyme of mice, both proteins are required for the expression of Bmp4, which is the key signaling factor for progression to the next step of tooth development. We have previously shown that Pax9 can transactivate a 2.4-kb Bmp4 promoter construct, and that most tooth-agenesis-causing PAX9 mutations impair DNA binding and Bmp4 promoter activation. We also found that Msx1 by itself represses transcription from this proximal Bmp4 promoter, and that, in combination with Pax9, it acts as a potentiator of Pax9-induced Bmp4 transactivation. This synergism of Msx1 with Pax9 is significant, because it is currently the only documented mechanism for Msx1-mediated activation of Bmp4. In this study, we investigated whether the 5 known tooth-agenesis-causing MSX1 missense mutations disrupt this Pax9-potentiation effect, or if they lead to deficiencies in protein stability, protein-protein interactions, nuclear translocation, and DNA-binding. We found that none of the studied molecular mechanisms yielded a satisfactory explanation for the pathogenic effects of the Msx1 mutations, calling for an entirely different approach to the investigation of this step of odontogenesis on the molecular level. PMID:21297014

  9. Behavior based adaptive call predictor

    OpenAIRE

    Phithakkitnukoon, Santi; Dantu, Ram; Claxton, Rob; Eagle, Nathan

    2011-01-01

    Predicting future calls can be the next advanced feature of the next-generation telecommunication networks as the service providers are looking to offer new services to their customers. Call prediction can be useful to many applications such as planning daily schedules, avoiding unwanted communications (e.g. voice spam), and resource planning in call centers. Predicting calls is a very challenging task. We believe that this is an emerging area of research in ambient intelligence where the ele...

  10. Call Centre- Computer Telephone Integration

    Directory of Open Access Journals (Sweden)

    Dražen Kovačević

    2012-10-01

    Full Text Available Call centre largely came into being as a result of consumerneeds converging with enabling technology- and by the companiesrecognising the revenue opportunities generated by meetingthose needs thereby increasing customer satisfaction. Regardlessof the specific application or activity of a Call centre, customersatisfaction with the interaction is critical to the revenuegenerated or protected by the Call centre. Physical(v, Call centreset up is a place that includes computer, telephone and supervisorstation. Call centre can be available 24 hours a day - whenthe customer wants to make a purchase, needs information, orsimply wishes to register a complaint.

  11. CARIAA Call - Frequently Asked Questions

    International Development Research Centre (IDRC) Digital Library (Canada)

    IDRC CRDI

    2013-03-28

    Mar 28, 2013 ... The call states that CARIAA will also collaborate with the consortia on programmatic functions that support the program as a whole, including communication, outreach and engagement, knowledge management, and monitoring and evaluation. What kind of activities are envisaged? 48). The call states that ...

  12. The difficult medical emergency call

    DEFF Research Database (Denmark)

    Møller, Thea Palsgaard; Kjærulff, Thora Majlund; Viereck, Søren

    2017-01-01

    BACKGROUND: Pre-hospital emergency care requires proper categorization of emergency calls and assessment of emergency priority levels by the medical dispatchers. We investigated predictors for emergency call categorization as "unclear problem" in contrast to "symptom-specific" categories and the ...

  13. The difficult medical emergency call

    DEFF Research Database (Denmark)

    Møller, Thea Palsgaard; Kjærulff, Thora Majlund; Viereck, Søren

    2017-01-01

    BACKGROUND: Pre-hospital emergency care requires proper categorization of emergency calls and assessment of emergency priority levels by the medical dispatchers. We investigated predictors for emergency call categorization as "unclear problem" in contrast to "symptom-specific" categories...... and the effect of categorization on mortality. METHODS: Register-based study in a 2-year period based on emergency call data from the emergency medical dispatch center in Copenhagen combined with nationwide register data. Logistic regression analysis (N = 78,040 individuals) was used for identification...

  14. Bladder Cancer and Genetic Mutations.

    Science.gov (United States)

    Zhang, Xiaoying; Zhang, Yangde

    2015-09-01

    The most common type of urinary bladder cancer is called as transitional cell carcinoma. The major risk factors for bladder cancer are environmental, tobacco smoking, exposure to toxic industrial chemicals and gases, bladder inflammation due to microbial and parasitic infections, as well as some adverse side-effects of medications. The genetic mutations in some chromosomal genes, such as FGFR3, RB1, HRAS, TP53, TSC1, and others, occur which form tumors in the urinary bladder. These genes play an important role in the regulation of cell division which prevents cells from dividing too quickly. The changes in the genes of human chromosome 9 are usually responsible for tumor in bladder cancer, but the genetic mutation of chromosome 22 can also result in bladder cancer. The identification of p53 gene mutation has been studied at NIH, Washington, DC, USA, in urine samples of bladder cancer patients. The invasive bladder cancers were determined for the presence of gene mutations on p53 suppressor gene. The 18 different bladder tumors were evaluated, and 11 (61 %) had genetic mutations of p53 gene. The bladder cancer studies have suggested that 70 % of bladder cancers involve a specific mutation in a particular gene, namely telomerase reverse transcriptase (TERT) gene. The TERT gene is involved in DNA protection, cellular aging processes, and cancer. The Urothelial carcinomas of the bladder have been described in Atlas of genetics and cytogenetics in oncology and hematology. HRAS is a proto-oncogene and has potential to cause cancer in several organs including the bladder. The TSC1 c. 1907 1908 del (E636fs) mutation in bladder cancer suggests that the location of the mutation is Exon 15 with frequency of TSC1 mutation of 11.7 %. The recent findings of BAP1 mutations have shown that it contributes to BRCA pathway alterations in bladder cancer. The discoveries of more gene mutations and new biomarkers and polymerase chain reaction bioassays for gene mutations in bladder

  15. Quantifying uncertainty in genotype calls.

    Science.gov (United States)

    Carvalho, Benilton S; Louis, Thomas A; Irizarry, Rafael A

    2010-01-15

    Genome-wide association studies (GWAS) are used to discover genes underlying complex, heritable disorders for which less powerful study designs have failed in the past. The number of GWAS has skyrocketed recently with findings reported in top journals and the mainstream media. Microarrays are the genotype calling technology of choice in GWAS as they permit exploration of more than a million single nucleotide polymorphisms (SNPs) simultaneously. The starting point for the statistical analyses used by GWAS to determine association between loci and disease is making genotype calls (AA, AB or BB). However, the raw data, microarray probe intensities, are heavily processed before arriving at these calls. Various sophisticated statistical procedures have been proposed for transforming raw data into genotype calls. We find that variability in microarray output quality across different SNPs, different arrays and different sample batches have substantial influence on the accuracy of genotype calls made by existing algorithms. Failure to account for these sources of variability can adversely affect the quality of findings reported by the GWAS. We developed a method based on an enhanced version of the multi-level model used by CRLMM version 1. Two key differences are that we now account for variability across batches and improve the call-specific assessment of each call. The new model permits the development of quality metrics for SNPs, samples and batches of samples. Using three independent datasets, we demonstrate that the CRLMM version 2 outperforms CRLMM version 1 and the algorithm provided by Affymetrix, Birdseed. The main advantage of the new approach is that it enables the identification of low-quality SNPs, samples and batches. Software implementing of the method described in this article is available as free and open source code in the crlmm R/BioConductor package. Supplementary data are available at Bioinformatics online.

  16. The Wireless Nursing Call System

    DEFF Research Database (Denmark)

    Jensen, Casper Bruun

    2006-01-01

    This paper discusses a research project in which social scientists were involved both as analysts and supporters during a pilot with a new wireless nursing call system. The case thus exemplifies an attempt to participate in developing dependable health care systems and offers insight into the cha......This paper discusses a research project in which social scientists were involved both as analysts and supporters during a pilot with a new wireless nursing call system. The case thus exemplifies an attempt to participate in developing dependable health care systems and offers insight...

  17. CALL and the Speaking Skill.

    Science.gov (United States)

    James, Robert

    1996-01-01

    Using common technologies listed in the conversation class, the article suggests a computer-aided language learning (CALL) speaking methodology that is interaction rather than machine centered and outlines ways to ensure the success of speaking activities at the computer. (31 references) (Author/CK)

  18. Calling to Nursing: Concept Analysis.

    Science.gov (United States)

    Emerson, Christie

    The aims of this article are (a) to analyze the concept of a calling as it relates nursing and (b) to develop a definition of calling to nursing with the detail and clarity needed to guide reliable and valid research. The classic steps described by Walker and Avant are used for the analysis. Literature from several disciplines is reviewed including vocational psychology, Christian career counseling, sociology, organizational management, and nursing. The analysis provides an operational definition of a calling to nursing and establishes 3 defining attributes of the concept: (a) a passionate intrinsic motivation or desire (perhaps with a religious component), (b) an aspiration to engage in nursing practice, as a means of fulfilling one's purpose in life, and (c) the desire to help others as one's purpose in life. Antecedents to the concept are personal introspection and cognitive awareness. Positive consequences to the concept are improved work meaningfulness, work engagement, career commitment, personal well-being, and satisfaction. Negative consequences of having a calling might include willingness to sacrifice well-being for work and problems with work-life balance. Following the concept analysis, philosophical assumptions, contextual factors, interdisciplinary work, research opportunities, and practice implications are discussed.

  19. An Evaluation Framework for CALL

    Science.gov (United States)

    McMurry, Benjamin L.; Williams, David Dwayne; Rich, Peter J.; Hartshorn, K. James

    2016-01-01

    Searching prestigious Computer-assisted Language Learning (CALL) journals for references to key publications and authors in the field of evaluation yields a short list. The "American Journal of Evaluation"--the flagship journal of the American Evaluation Association--is only cited once in both the "CALICO Journal and Language…

  20. Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

    Directory of Open Access Journals (Sweden)

    Blakely Emma L

    2011-10-01

    Full Text Available Abstract Background Developments in DNA resequencing microarrays include mitochondrial DNA (mtDNA sequencing and mutation detection. Failure by the microarray to identify a base, compared to the reference sequence, is designated an 'N-call.' This study re-examined the N-call distribution of mtDNA samples sequenced by the Affymetrix MitoChip v.2.0, based on the hypothesis that N-calls may represent insertions or deletions (indels in mtDNA. Findings We analysed 16 patient mtDNA samples using MitoChip. N-calls by the proprietary GSEQ software were significantly reduced when either of the freeware on-line algorithms ResqMi or sPROFILER was utilized. With sPROFILER, this decrease in N-calls had no effect on the homoplasmic or heteroplasmic mutation levels compared to GSEQ software, but ResqMi produced a significant change in mutation load, as well as producing longer N-cell stretches. For these reasons, further analysis using ResqMi was not attempted. Conventional DNA sequencing of the longer N-calls stretches from sPROFILER revealed 7 insertions and 12 point mutations. Moreover, analysis of single-base N-calls of one mtDNA sample found 3 other point mutations. Conclusions Our study is the first to analyse N-calls produced from GSEQ software for the MitoChipv2.0. By narrowing the focus to longer stretches of N-calls revealed by sPROFILER, conventional sequencing was able to identify unique insertions and point mutations. Shorter N-calls also harboured point mutations, but the absence of deletions among N-calls suggests that probe confirmation affects binding and thus N-calling. This study supports the contention that the GSEQ is more capable of assigning bases when used in conjunction with sPROFILER.

  1. impact of queuing on call c queuing on call c queuing on call ...

    African Journals Online (AJOL)

    eobe

    work resource reduces the probability that a call arriving at the base sta formance evaluation plays an important role in modelling and network resource. network resource. This objective is achieved by an accurate traffic characte. This objective is achieved by an accurate traffic characte rformance metrics in terms of traffic ...

  2. Calle y Saberes en Movimiento

    Directory of Open Access Journals (Sweden)

    Laura Daniela Aguirre Aguilar

    2010-05-01

    Full Text Available En México el rezago, el ausentismo, la deserción escolar, el trabajo a temprana edad y el inicio de una vida en la calle, en repetidas ocasiones son consecuencia de un núcleo familiar desarticulado o de una débil relación intrafamiliar, así como de una condición socioeconómica en desventaja. Ante esta problemática, la Secretaría de Educación Pública, instancia gubernamental encargada de garantizar una educación de calidad para la población, trabaja coordinadamente con organizaciones de la sociedad civil e instancias públicas, para la reintegración a los espacios educativos de los niños, niñas y jóvenes en situación de calle.

  3. Calle y Saberes en Movimiento

    Directory of Open Access Journals (Sweden)

    Laura Daniela Aguirre Aguilar

    2010-01-01

    Full Text Available En México el rezago, el ausentismo, la deserción escolar, el trabajo a temprana edad y el inicio de una vida en la calle, en repetidas ocasiones son consecuencia de un núcleo familiar desarticulado o de una débil relación intrafamiliar, así como de una condición socioeconómica en desventaja. Ante esta problemática, la Secretaría de Educación Pública, instancia gubernamental encargada de garantizar una educación de calidad para la población, trabaja coordinadamente con organizaciones de la sociedad civil e instancias públicas, para la reintegración a los espacios educativos de los niños, niñas y jóvenes en situación de calle.

  4. Armed calling for sur plus

    Directory of Open Access Journals (Sweden)

    Andréa Limberto Leite

    2013-12-01

    Full Text Available The most recent work by researcher José Luiz Aidar Prado, Convocações biopolíticas dos dispositivos comunicacionais (freely translated as Biopolitic convoking of communicational dispositives puts the reader straight in the face of the calling to enter circulating discourses. They are directed to all subjects and also accomodate the discourses with urgence for consumption. 

  5. Ultrasound call detection in capybara

    Directory of Open Access Journals (Sweden)

    Selene S.C. Nogueira

    2012-07-01

    Full Text Available The vocal repertoire of some animal species has been considered a non-invasive tool to predict distress reactivity. In rats ultrasound emissions were reported as distress indicator. Capybaras[ vocal repertoire was reported recently and seems to have ultrasound calls, but this has not yet been confirmed. Thus, in order to check if a poor state of welfare was linked to ultrasound calls in the capybara vocal repertoire, the aim of this study was to track the presence of ultrasound emissions in 11 animals under three conditions: 1 unrestrained; 2 intermediately restrained, and 3 highly restrained. The ultrasound track identified frequencies in the range of 31.8±3.5 kHz in adults and 33.2±8.5 kHz in juveniles. These ultrasound frequencies occurred only when animals were highly restrained, physically restrained or injured during handling. We concluded that these calls with ultrasound components are related to pain and restraint because they did not occur when animals were free of restraint. Thus we suggest that this vocalization may be used as an additional tool to assess capybaras[ welfare.

  6. Dynamics and Fate of Beneficial Mutations Under Lineage Contamination by Linked Deleterious Mutations

    Science.gov (United States)

    Pénisson, Sophie; Singh, Tanya; Sniegowski, Paul

    2017-01-01

    Beneficial mutations drive adaptive evolution, yet their selective advantage does not ensure their fixation. Haldane’s application of single-type branching process theory showed that genetic drift alone could cause the extinction of newly arising beneficial mutations with high probability. With linkage, deleterious mutations will affect the dynamics of beneficial mutations and might further increase their extinction probability. Here, we model the lineage dynamics of a newly arising beneficial mutation as a multitype branching process. Our approach accounts for the combined effects of drift and the stochastic accumulation of linked deleterious mutations, which we call lineage contamination. We first study the lineage-contamination phenomenon in isolation, deriving dynamics and survival probabilities (the complement of extinction probabilities) of beneficial lineages. We find that survival probability is zero when U≳sb, where U is deleterious mutation rate and sb is the selective advantage of the beneficial mutation in question, and is otherwise depressed below classical predictions by a factor bounded from below by ∼1−U/sb. We then put the lineage contamination phenomenon into the context of an evolving population by incorporating the effects of background selection. We find that, under the combined effects of lineage contamination and background selection, ensemble survival probability is never zero but is depressed below classical predictions by a factor bounded from below by e−εU/s¯b, where s¯b is mean selective advantage of beneficial mutations, and ε=1−e−1≈0.63. This factor, and other bounds derived from it, are independent of the fitness effects of deleterious mutations. At high enough mutation rates, lineage contamination can depress fixation probabilities to values that approach zero. This fact suggests that high mutation rates can, perhaps paradoxically, (1) alleviate competition among beneficial mutations, or (2) potentially even shut

  7. Improving the Performance of Somatic Mutation Identification by Recovering Circulating Tumor DNA Mutations.

    Science.gov (United States)

    Fu, Yu; Jovelet, Cécile; Filleron, Thomas; Pedrero, Marion; Motté, Nelly; Boursin, Yannick; Luo, Yufei; Massard, Christophe; Campone, Mario; Levy, Christelle; Diéras, Véronique; Bachelot, Thomas; Garrabey, Julie; Soria, Jean-Charles; Lacroix, Ludovic; André, Fabrice; Lefebvre, Celine

    2016-10-15

    DNA extracted from cancer patients' whole blood may contain somatic mutations from circulating tumor DNA (ctDNA) fragments. In this study, we introduce cmDetect, a computational method for the systematic identification of ctDNA mutations using whole-exome sequencing of a cohort of tumor and corresponding peripheral whole-blood samples. Through the analysis of simulated data, we demonstrated an increase in sensitivity in calling somatic mutations by combining cmDetect to two widely used mutation callers. In a cohort of 93 breast cancer metastatic patients, cmDetect identified ctDNA mutations in 54% of the patients and recovered somatic mutations in cancer genes EGFR, PIK3CA, and TP53 We further showed that cmDetect detected ctDNA in 89% of patients with confirmed mutated cell-free tumor DNA by plasma analyses (n = 9) within 46 pan-cancer patients. Our results prompt immediate consideration of the use of this method as an additional step in somatic mutation calling using whole-exome sequencing data with blood samples as controls. Cancer Res; 76(20); 5954-61. ©2016 AACR. ©2016 American Association for Cancer Research.

  8. 78 FR 76257 - Rural Call Completion

    Science.gov (United States)

    2013-12-17

    ... such service offers the capability to place calls to or receive calls from the PSTN. 6. In addition... traffic in response to continued complaints about rural call completion issues from rural associations... Project offering providers the opportunity to test call completion issues identified on calls destined to...

  9. Teaching the Fluctuation Test "In Silico" by Using Mutate: A Program to Distinguish between the Adaptive and Spontaneous Mutation Hypotheses

    Science.gov (United States)

    Carvajal-Rodriguez, Antonio

    2012-01-01

    Mutate is a program developed for teaching purposes to impart a virtual laboratory class for undergraduate students of Genetics in Biology. The program emulates the so-called fluctuation test whose aim is to distinguish between spontaneous and adaptive mutation hypotheses in bacteria. The plan is to train students in certain key multidisciplinary…

  10. 78 FR 76218 - Rural Call Completion

    Science.gov (United States)

    2013-12-17

    ..., to the extent such service offers the capability to place calls to or receive calls from the PSTN. 6... restricting telephone traffic in response to continued complaints about rural call completion issues from.... In August 2013, ATIS and NECA announced a voluntary Joint National Call Testing Project offering...

  11. 47 CFR 2.302 - Call signs.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 1 2010-10-01 2010-10-01 false Call signs. 2.302 Section 2.302... RULES AND REGULATIONS Call Signs and Other Forms of Identifying Radio Transmissions § 2.302 Call signs. The table which follows indicates the composition and blocks of international call signs available for...

  12. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

    DEFF Research Database (Denmark)

    Xu, H; Wu, X R; Wewer, U M

    1994-01-01

    The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice...

  13. Mapping Mutations on Phylogenies

    DEFF Research Database (Denmark)

    Nielsen, Rasmus

    2005-01-01

    This chapter provides a short review of recent methodologies developed for mapping mutations on phylogenies. Mapping of mutations, or character changes in general, using the maximum parsimony principle has been one of the most powerful tools in phylogenetics, and it has been used in a variety...... uncertainty in the mapping. Recently developed probabilistic methods can incorporate statistical uncertainty in the character mappings. In these methods, focus is on a probability distribution of mutational mappings instead of a single estimate of the mutational mapping....

  14. Mutational landscape of yeast mutator strains.

    Science.gov (United States)

    Serero, Alexandre; Jubin, Claire; Loeillet, Sophie; Legoix-Né, Patricia; Nicolas, Alain G

    2014-02-04

    The acquisition of mutations is relevant to every aspect of genetics, including cancer and evolution of species on Darwinian selection. Genome variations arise from rare stochastic imperfections of cellular metabolism and deficiencies in maintenance genes. Here, we established the genome-wide spectrum of mutations that accumulate in a WT and in nine Saccharomyces cerevisiae mutator strains deficient for distinct genome maintenance processes: pol32Δ and rad27Δ (replication), msh2Δ (mismatch repair), tsa1Δ (oxidative stress), mre11Δ (recombination), mec1Δ tel1Δ (DNA damage/S-phase checkpoints), pif1Δ (maintenance of mitochondrial genome and telomere length), cac1Δ cac3Δ (nucleosome deposition), and clb5Δ (cell cycle progression). This study reveals the diversity, complexity, and ultimate unique nature of each mutational spectrum, composed of punctual mutations, chromosomal structural variations, and/or aneuploidies. The mutations produced in clb5Δ/CCNB1, mec1Δ/ATR, tel1Δ/ATM, and rad27Δ/FEN1 strains extensively reshape the genome, following a trajectory dependent on previous events. It comprises the transmission of unstable genomes that lead to colony mosaicisms. This comprehensive analytical approach of mutator defects provides a model to understand how genome variations might accumulate during clonal evolution of somatic cell populations, including tumor cells.

  15. UV Signature Mutations

    Science.gov (United States)

    2014-01-01

    Sequencing complete tumor genomes and exomes has sparked the cancer field's interest in mutation signatures for identifying the tumor's carcinogen. This review and meta-analysis discusses signatures and their proper use. We first distinguish between a mutagen's canonical mutations – deviations from a random distribution of base changes to create a pattern typical of that mutagen – and the subset of signature mutations, which are unique to that mutagen and permit inference backward from mutations to mutagen. To verify UV signature mutations, we assembled literature datasets on cells exposed to UVC, UVB, UVA, or solar simulator light (SSL) and tested canonical UV mutation features as criteria for clustering datasets. A confirmed UV signature was: ≥60% of mutations are C→T at a dipyrimidine site, with ≥5% CC→TT. Other canonical features such as a bias for mutations on the non-transcribed strand or at the 3' pyrimidine had limited application. The most robust classifier combined these features with criteria for the rarity of non-UV canonical mutations. In addition, several signatures proposed for specific UV wavelengths were limited to specific genes or species; non-signature mutations induced by UV may cause melanoma BRAF mutations; and the mutagen for sunlight-related skin neoplasms may vary between continents. PMID:25354245

  16. Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

    Directory of Open Access Journals (Sweden)

    A. L. M. J. van der Knijff-van Dortmont

    2016-01-01

    Full Text Available SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour.

  17. Indico CONFERENCE: Define the Call for Abstracts

    CERN Multimedia

    CERN. Geneva; Ferreira, Pedro

    2017-01-01

    In this tutorial, you will learn how to define and open a call for abstracts. When defining a call for abstracts, you will be able to define settings related to the type of questions asked during a review of an abstract, select the users who will review the abstracts, decide when to open the call for abstracts, and more.

  18. HOW TO CALL THE CERN FIRE BRIGADE

    CERN Multimedia

    2002-01-01

    The telephone numbers of the CERN Fire Brigade are: 74444 for emergency calls 74848 for other calls Note The number 112 will stay in use for emergency calls from 'wired' telephones, however, from mobile phones it leads to non-CERN emergency services.

  19. How to call the Fire Brigade

    CERN Multimedia

    2003-01-01

    The telephone numbers for the CERN Fire Brigade are: 74444 for emergency calls 74848 for other calls Note The number 112 will stay in use for emergency calls from "wired" telephones, however, from mobile phones it leads to non-CERN emergency services.

  20. HOW TO CALL THE CERN FIRE BRIGADE

    CERN Multimedia

    2002-01-01

    The telephone numbers of the CERN Fire Brigade are: 74444 for emergency calls 74848 for other calls Note The number 112 will stay in use for emergency calls from 'wired' telephones, however, from mobile phones it leads to non-CERN emergency services.  

  1. Do market participants learn from conference calls?

    NARCIS (Netherlands)

    Roelofsen, E.; Verbeeten, F.; Mertens, G.

    2014-01-01

    We examine whether market participants learn from the information that is disseminated during the Q-and-A section of conference calls. Specifically, we investigate whether stock prices react to information on intangible assets provided during conference calls, and whether conference calls

  2. HOW TO CALL THE CERN FIRE BRIGADE

    CERN Multimedia

    2001-01-01

    The telephone numbers of the CERN Fire Brigade are: 74444 for emergency calls 74848 for other calls Note: the number 112 will stay in use for emergency calls from 'wired' telephones, however, from mobile phones it leads to non-CERN emergency services.

  3. HOW TO CALL THE CERN FIRE BRIGADE

    CERN Multimedia

    2001-01-01

    The telephone numbers of the CERN Fire Brigade are: 74444 for emergency calls 74848 for other calls Note The number 112 will stay in use for emergency calls from 'wired' telephones, however, from mobile phones it leads to non-CERN emergency services.

  4. ICALL's Relevance to CALL

    Science.gov (United States)

    Ward, Monica

    2017-01-01

    The term Intelligent Computer Assisted Language Learning (ICALL) covers many different aspects of CALL that add something extra to a CALL resource. This could be with the use of computational linguistics or Artificial Intelligence (AI). ICALL tends to be not very well understood within the CALL community. There may also be the slight fear factor…

  5. Bonobos extract meaning from call sequences.

    Directory of Open Access Journals (Sweden)

    Zanna Clay

    Full Text Available Studies on language-trained bonobos have revealed their remarkable abilities in representational and communication tasks. Surprisingly, however, corresponding research into their natural communication has largely been neglected. We address this issue with a first playback study on the natural vocal behaviour of bonobos. Bonobos produce five acoustically distinct call types when finding food, which they regularly mix together into longer call sequences. We found that individual call types were relatively poor indicators of food quality, while context specificity was much greater at the call sequence level. We therefore investigated whether receivers could extract meaning about the quality of food encountered by the caller by integrating across different call sequences. We first trained four captive individuals to find two types of foods, kiwi (preferred and apples (less preferred at two different locations. We then conducted naturalistic playback experiments during which we broadcasted sequences of four calls, originally produced by a familiar individual responding to either kiwi or apples. All sequences contained the same number of calls but varied in the composition of call types. Following playbacks, we found that subjects devoted significantly more search effort to the field indicated by the call sequence. Rather than attending to individual calls, bonobos attended to the entire sequences to make inferences about the food encountered by a caller. These results provide the first empirical evidence that bonobos are able to extract information about external events by attending to vocal sequences of other individuals and highlight the importance of call combinations in their natural communication system.

  6. Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.

    Science.gov (United States)

    Kadota, Chika; Arimura, Takuro; Hayashi, Takeharu; Naruse, Taeko K; Kawai, Sachio; Kimura, Akinori

    2015-10-01

    There is an overlap between the physiological cardiac remodeling associated with training in athletes, the so-called athlete's heart, and mild forms of hypertrophic cardiomyopathy (HCM), the most common hereditary cardiac disease. HCM is often accompanied by unfavorable outcomes including a sudden cardiac death in the adolescents. Because one of the initial signs of HCM is abnormality in electrocardiogram (ECG), athletes may need to monitor for ECG findings to prevent any unfavorable outcomes. HCM is caused by mutations in genes for sarcomere proteins, but there is no report on the systematic screening of gene mutations in athletes. One hundred and two genetically unrelated young Japanese athletes with abnormal ECG findings were the subjects for the analysis of four sarcomere genes, MYH7, MYBPC3, TNNT2 and TNNI3. We found that 5 out of 102 (4.9%) athletes carried mutations: a heterozygous MYH7 Glu935Lys mutation, a heterozygous MYBPC3 Arg160Trp mutation and another heterozygous MYBPC3 Thr1046Met mutation, all of which had been reported as HCM-associated mutations, in 1, 2 and 2 subjects, respectively. This is the first study of systematic screening of sarcomere gene mutations in a cohort of athletes with abnormal ECG, demonstrating the presence of sarcomere gene mutations in the athlete's heart.

  7. Mitochondrial mutations in cancer.

    Science.gov (United States)

    Brandon, M; Baldi, P; Wallace, D C

    2006-08-07

    The metabolism of solid tumors is associated with high lactate production while growing in oxygen (aerobic glycolysis) suggesting that tumors may have defects in mitochondrial function. The mitochondria produce cellular energy by oxidative phosphorylation (OXPHOS), generate reactive oxygen species (ROS) as a by-product, and regulate apoptosis via the mitochondrial permeability transition pore (mtPTP). The mitochondria are assembled from both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) genes. The mtDNA codes for 37 genes essential of OXPHOS, is present in thousands of copies per cell, and has a very high mutations rate. In humans, severe mtDNA mutations result in multisystem disease, while some functional population-specific polymorphisms appear to have permitted humans to adapt to new environments. Mutations in the nDNA-encoded mitochondrial genes for fumarate hydratase and succinate dehydrogenase have been linked to uterine leiomyomas and paragangliomas, and cancer cells have been shown to induce hexokinase II which harnesses OXPHOS adenosine triphosphate (ATP) production to drive glycolysis. Germline mtDNA mutations at nucleotides 10398 and 16189 have been associated with breast cancer and endometrial cancer. Tumor mtDNA somatic mutations range from severe insertion-deletion and chain termination mutations to mild missense mutations. Surprisingly, of the 190 tumor-specific somatic mtDNA mutations reported, 72% are also mtDNA sequence variants found in the general population. These include 52% of the tumor somatic mRNA missense mutations, 83% of the tRNA mutations, 38% of the rRNA mutations, and 85% of the control region mutations. Some associations might reflect mtDNA sequencing errors, but analysis of several of the tumor-specific somatic missense mutations with population counterparts appear legitimate. Therefore, mtDNA mutations in tumors may fall into two main classes: (1) severe mutations that inhibit OXPHOS, increase ROS production and promote tumor

  8. Educación de calle

    OpenAIRE

    Aguado Alonso, Carmen María

    2014-01-01

    Los cambios que está sufriendo nuestra sociedad generan nuevas realidades sociales y nuevos métodos de socialización modificando nuestro entorno. Uno de los principales lugares donde ocurre esto es en la calle. La Calle tiene un potencial educativo muy valioso. En ocasiones puede ser utilizado para “des - educar”, olvidado por instituciones sociales, políticas y educativas. Es importante que la Calle se convierta en un espacio de socialización educativa. La Calle tiene un pa...

  9. Call Duration Characteristics based on Customers Location

    Directory of Open Access Journals (Sweden)

    Žvinys Karolis

    2014-05-01

    Full Text Available Nowadays a lot of different researches are performed based on call duration distributions (CDD analysis. However, the majority of studies are linked with social relationships between the people. Therefore the scarcity of information, how the call duration is associated with a user's location, is appreciable. The goal of this paper is to reveal the ties between user's voice call duration and the location of call. For this reason we analyzed more than 5 million calls from real mobile network, which were made over the base stations located in rural areas, roads, small towns, business and entertainment centers, residential districts. According to these site types CDD’s and characteristic features for call durations are given and discussed. Submitted analysis presents the users habits and behavior as a group (not an individual. The research showed that CDD’s of customers being them in different locations are not equal. It has been found that users at entertainment, business centers are tend to talk much shortly, than people being at home. Even more CDD can be distorted strongly, when machinery calls are evaluated. Hence to apply a common CDD for a whole network it is not recommended. The study also deals with specific parameters of call duration for distinguished user groups, the influence of network technology for call duration is considered.

  10. Time series modeling of daily abandoned calls in a call centre ...

    African Journals Online (AJOL)

    Models for evaluating and predicting the short periodic time series in daily abandoned calls in a call center are developed. Abandonment of calls due to impatient is an identified problem among most call centers. The two competing models were derived using Fourier series and the Box and Jenkins modeling approaches.

  11. Role of mutation in Pseudomonas aeruginosa biofilm development.

    Directory of Open Access Journals (Sweden)

    Tim C R Conibear

    2009-07-01

    Full Text Available The survival of bacteria in nature is greatly enhanced by their ability to grow within surface-associated communities called biofilms. Commonly, biofilms generate proliferations of bacterial cells, called microcolonies, which are highly recalcitrant, 3-dimensional foci of bacterial growth. Microcolony growth is initiated by only a subpopulation of bacteria within biofilms, but processes responsible for this differentiation remain poorly understood. Under conditions of crowding and intense competition between bacteria within biofilms, microevolutionary processes such as mutation selection may be important for growth; however their influence on microcolony-based biofilm growth and architecture have not previously been explored. To study mutation in-situ within biofilms, we transformed Pseudomonas aeruginosa cells with a green fluorescent protein gene containing a +1 frameshift mutation. Transformed P. aeruginosa cells were non-fluorescent until a mutation causing reversion to the wildtype sequence occurs. Fluorescence-inducing mutations were observed in microcolony structures, but not in other biofilm cells, or in planktonic cultures of P. aeruginosa cells. Thus microcolonies may represent important foci for mutation and evolution within biofilms. We calculated that microcolony-specific increases in mutation frequency were at least 100-fold compared with planktonically grown cultures. We also observed that mutator phenotypes can enhance microcolony-based growth of P. aeruginosa cells. For P. aeruginosa strains defective in DNA fidelity and error repair, we found that microcolony initiation and growth was enhanced with increased mutation frequency of the organism. We suggest that microcolony-based growth can involve mutation and subsequent selection of mutants better adapted to grow on surfaces within crowded-cell environments. This model for biofilm growth is analogous to mutation selection that occurs during neoplastic progression and tumor

  12. Counselling framework for moderate-penetrance cancer-susceptibility mutations

    OpenAIRE

    Tung, Nadine; Domchek, Susan M.; Stadler, Zsofia; Nathanson, Katherine L.; Couch, Fergus; Garber, Judy E.; Offit, Kenneth; Robson, Mark E.

    2016-01-01

    The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical validity for some gene variants and the uncertain clinical utility of most multigene panels. So-called ?moderate-penetrance? gene mutations associated with cancer susceptibility are identified in approximately 2?5% of individuals referred for clinical testing; some of these mutations are potentially action...

  13. 76 FR 17934 - Infrastructure Protection Data Call

    Science.gov (United States)

    2011-03-31

    ... infrastructure and key resources (CIKR). At DHS, this responsibility is managed by IP within NPPD. Beginning in...: Infrastructure Protection Data Call. OMB Number: 1670-NEW. Frequency: On occasion. Affected Public: Federal... SECURITY Infrastructure Protection Data Call AGENCY: National Protection and Programs Directorate, DHS...

  14. Answering the "Call of the Mountain"

    NARCIS (Netherlands)

    Chaves Villegas, Martha

    2016-01-01

    In response to the age of the ‘anthropocene,’ as some authors are calling this epoch in which one single species is disrupting major natural systems (Steffen et al 2011), there are calls for more radical, learning-based sustainability that generates deep transformations in individuals

  15. Kindness Curbs Kids' Name-Calling

    Science.gov (United States)

    Saxon, Rebekah

    2005-01-01

    In this article, the author discusses the impact of name-calling towards the student's academic performance and emotions and cites some measures on how should teachers address this problem in order to facilitate effective learning among students. Psychologists recognize that name-calling and other forms of verbal bullying and harassment are more…

  16. 17 CFR 31.18 - Margin calls.

    Science.gov (United States)

    2010-04-01

    ... 17 Commodity and Securities Exchanges 1 2010-04-01 2010-04-01 false Margin calls. 31.18 Section 31....18 Margin calls. (a) No leverage transaction merchant shall liquidate a leverage contract because of a margin deficiency without effecting personal contact with the leverage customer. If a leverage...

  17. Help Options in CALL: A Systematic Review

    Science.gov (United States)

    Cardenas-Claros, Monica S.; Gruba, Paul A.

    2009-01-01

    This paper is a systematic review of research investigating help options in the different language skills in computer-assisted language learning (CALL). In this review, emerging themes along with is-sues affecting help option research are identified and discussed. We argue that help options in CALL are application resources that do not only seem…

  18. Monitoring method call sequences using annotations

    NARCIS (Netherlands)

    B. Nobakht (Behrooz); F.S. de Boer (Frank); M.M. Bonsangue (Marcello); C.P.T. de Gouw (Stijn); M.M. Jaghouri (MohammadMahdi)

    2014-01-01

    htmlabstractIn this paper we introduce JMSeq, a Java-based tool for monitoring sequences of method calls. JMSeq provides a simple but expressive language to specify the observables of a Java program in terms of sequences of possibly nested method calls. Similar to many monitoring-oriented

  19. 78 FR 21891 - Rural Call Completion

    Science.gov (United States)

    2013-04-12

    ... one of two proposed safe harbor provisions. We also propose to prohibit both originating and... these proposed rules, particularly for originating providers whose call-routing practices do not appear... in presentations at the Commission's October 18, 2011 workshop on rural call routing and termination...

  20. Call Admission Control in Mobile Cellular Networks

    CERN Document Server

    Ghosh, Sanchita

    2013-01-01

    Call Admission Control (CAC) and Dynamic Channel Assignments (DCA) are important decision-making problems in mobile cellular communication systems. Current research in mobile communication considers them as two independent problems, although the former greatly depends on the resulting free channels obtained as the outcome of the latter. This book provides a solution to the CAC problem, considering DCA as an integral part of decision-making for call admission. Further, current technical resources ignore movement issues of mobile stations and fluctuation in network load (incoming calls) in the control strategy used for call admission. In addition, the present techniques on call admission offers solution globally for the entire network, instead of considering the cells independently.      CAC here has been formulated by two alternative approaches. The first approach aimed at handling the uncertainty in the CAC problem by employing fuzzy comparators.  The second approach is concerned with formulation of CAC ...

  1. Source levels of foraging humpback whale calls.

    Science.gov (United States)

    Fournet, Michelle E H; Matthews, Leanna P; Gabriele, Christine M; Mellinger, David K; Klinck, Holger

    2018-02-01

    Humpback whales produce a wide range of low- to mid-frequency vocalizations throughout their migratory range. Non-song "calls" dominate this species' vocal repertoire while on high-latitude foraging grounds. The source levels of 426 humpback whale calls in four vocal classes were estimated using a four-element planar array deployed in Glacier Bay National Park and Preserve, Southeast Alaska. There was no significant difference in source levels between humpback whale vocal classes. The mean call source level was 137 dB RMS re 1 μPa @ 1 m in the bandwidth of the call (range 113-157 dB RMS re 1 μPa @ 1 m), where bandwidth is defined as the frequency range from the lowest to the highest frequency component of the call. These values represent a robust estimate of humpback whale source levels on foraging grounds and should append earlier estimates.

  2. Call Cultures in Orang-Utans?

    Science.gov (United States)

    Wich, Serge A.; Nater, Alexander; Arora, Natasha; Bastian, Meredith L.; Meulman, Ellen; Morrogh-Bernard, Helen C.; Atmoko, S. Suci Utami; Pamungkas, Joko; Perwitasari-Farajallah, Dyah; Hardus, Madeleine E.; van Noordwijk, Maria; van Schaik, Carel P.

    2012-01-01

    Background Several studies suggested great ape cultures, arguing that human cumulative culture presumably evolved from such a foundation. These focused on conspicuous behaviours, and showed rich geographic variation, which could not be attributed to known ecological or genetic differences. Although geographic variation within call types (accents) has previously been reported for orang-utans and other primate species, we examine geographic variation in the presence/absence of discrete call types (dialects). Because orang-utans have been shown to have geographic variation that is not completely explicable by genetic or ecological factors we hypothesized that this will be similar in the call domain and predict that discrete call type variation between populations will be found. Methodology/Principal Findings We examined long-term behavioural data from five orang-utan populations and collected fecal samples for genetic analyses. We show that there is geographic variation in the presence of discrete types of calls. In exactly the same behavioural context (nest building and infant retrieval), individuals in different wild populations customarily emit either qualitatively different calls or calls in some but not in others. By comparing patterns in call-type and genetic similarity, we suggest that the observed variation is not likely to be explained by genetic or ecological differences. Conclusion/Significance These results are consistent with the potential presence of ‘call cultures’ and suggest that wild orang-utans possess the ability to invent arbitrary calls, which spread through social learning. These findings differ substantially from those that have been reported for primates before. First, the results reported here are on dialect and not on accent. Second, this study presents cases of production learning whereas most primate studies on vocal learning were cases of contextual learning. We conclude with speculating on how these findings might assist in bridging

  3. Call cultures in orang-utans?

    Directory of Open Access Journals (Sweden)

    Serge A Wich

    Full Text Available BACKGROUND: Several studies suggested great ape cultures, arguing that human cumulative culture presumably evolved from such a foundation. These focused on conspicuous behaviours, and showed rich geographic variation, which could not be attributed to known ecological or genetic differences. Although geographic variation within call types (accents has previously been reported for orang-utans and other primate species, we examine geographic variation in the presence/absence of discrete call types (dialects. Because orang-utans have been shown to have geographic variation that is not completely explicable by genetic or ecological factors we hypothesized that this will be similar in the call domain and predict that discrete call type variation between populations will be found. METHODOLOGY/PRINCIPAL FINDINGS: We examined long-term behavioural data from five orang-utan populations and collected fecal samples for genetic analyses. We show that there is geographic variation in the presence of discrete types of calls. In exactly the same behavioural context (nest building and infant retrieval, individuals in different wild populations customarily emit either qualitatively different calls or calls in some but not in others. By comparing patterns in call-type and genetic similarity, we suggest that the observed variation is not likely to be explained by genetic or ecological differences. CONCLUSION/SIGNIFICANCE: These results are consistent with the potential presence of 'call cultures' and suggest that wild orang-utans possess the ability to invent arbitrary calls, which spread through social learning. These findings differ substantially from those that have been reported for primates before. First, the results reported here are on dialect and not on accent. Second, this study presents cases of production learning whereas most primate studies on vocal learning were cases of contextual learning. We conclude with speculating on how these findings might

  4. The structure of mutations and the evolution of cooperation.

    Directory of Open Access Journals (Sweden)

    Julián García

    Full Text Available Evolutionary game dynamics in finite populations assumes that all mutations are equally likely, i.e., if there are n strategies a single mutation can result in any strategy with probability 1/n. However, in biological systems it seems natural that not all mutations can arise from a given state. Certain mutations may be far away, or even be unreachable given the current composition of an evolving population. These distances between strategies (or genotypes define a topology of mutations that so far has been neglected in evolutionary game theory. In this paper we re-evaluate classic results in the evolution of cooperation departing from the assumption of uniform mutations. We examine two cases: the evolution of reciprocal strategies in a repeated prisoner's dilemma, and the evolution of altruistic punishment in a public goods game. In both cases, alternative but reasonable mutation kernels shift known results in the direction of less cooperation. We therefore show that assuming uniform mutations has a substantial impact on the fate of an evolving population. Our results call for a reassessment of the "model-less" approach to mutations in evolutionary dynamics.

  5. Defining "mutation" and "polymorphism" in the era of personal genomics.

    Science.gov (United States)

    Karki, Roshan; Pandya, Deep; Elston, Robert C; Ferlini, Cristiano

    2015-07-15

    The growing advances in DNA sequencing tools have made analyzing the human genome cheaper and faster. While such analyses are intended to identify complex variants, related to disease susceptibility and efficacy of drug responses, they have blurred the definitions of mutation and polymorphism. In the era of personal genomics, it is critical to establish clear guidelines regarding the use of a reference genome. Nowadays DNA variants are called as differences in comparison to a reference. In a sequencing project Single Nucleotide Polymorphisms (SNPs) and DNA mutations are defined as DNA variants detectable in >1 % or mutation or polymorphism for the same event (a difference as compared with a reference) can lead to problems of classification. These problems can impact the accuracy of the interpretation and the functional relationship between a disease state and a genomic sequence. We propose to solve this nomenclature dilemma by defining mutations as DNA variants obtained in a paired sequencing project including the germline DNA of the same individual as a reference. Moreover, the term mutation should be accompanied by a qualifying prefix indicating whether the mutation occurs only in somatic cells (somatic mutation) or also in the germline (germline mutation). We believe this distinction in definition will help avoid confusion among researchers and support the practice of sequencing the germline and somatic tissues in parallel to classify the DNA variants thus defined as mutations.

  6. Minkowski Polynomials and Mutations

    Directory of Open Access Journals (Sweden)

    Mohammad Akhtar

    2012-12-01

    Full Text Available Given a Laurent polynomial f, one can form the period of f: this is a function of one complex variable that plays an important role in mirror symmetry for Fano manifolds. Mutations are a particular class of birational transformations acting on Laurent polynomials in two variables; they preserve the period and are closely connected with cluster algebras. We propose a higher-dimensional analog of mutation acting on Laurent polynomials f in n variables. In particular we give a combinatorial description of mutation acting on the Newton polytope P of f, and use this to establish many basic facts about mutations. Mutations can be understood combinatorially in terms of Minkowski rearrangements of slices of P, or in terms of piecewise-linear transformations acting on the dual polytope P* (much like cluster transformations. Mutations map Fano polytopes to Fano polytopes, preserve the Ehrhart series of the dual polytope, and preserve the period of f. Finally we use our results to show that Minkowski polynomials, which are a family of Laurent polynomials that give mirror partners to many three-dimensional Fano manifolds, are connected by a sequence of mutations if and only if they have the same period.

  7. External GSM phone calls now made simpler

    CERN Multimedia

    2007-01-01

    On 2 July, the IT/CS Telecom Service introduced a new service making external calls from CERN GSM phones easier. A specific prefix is no longer needed for calls outside CERN. External calls from CERN GSM phones are to be simplified. It is no longer necessary to use a special prefix to call an external number from the CERN GSM network.The Telecom Section of the IT/CS Group is introducing a new system that will make life easier for GSM users. It is no longer necessary to use a special prefix (333) to call an external number from the CERN GSM network. Simply dial the number directly like any other Swiss GSM customer. CERN currently has its own private GSM network with the Swiss mobile operator, Sunrise, covering the whole of Switzerland. This network was initially intended exclusively for calls between CERN numbers (replacing the old beeper system). A special system was later introduced for external calls, allowing them to pass thr...

  8. Attitude of Farmers towards Kisan Call Centres

    Directory of Open Access Journals (Sweden)

    Shely Mary Koshy

    2017-09-01

    Full Text Available The present study was conducted to measure the attitude of farmers in Kerala, India towards Kisan Call Centre (KCC. Kisan Call Centre provides free agricultural advisory services to every citizen involved in agriculture through a toll free number. One hundred and fifty farmers who have utilized the Kisan Call Centre service were selected from the database of KCC. The results showed that the respondents had moderately favourable attitude towards KCC followed by highly favourable attitude. The variables digital divide, temporal awareness on KCC, satisfaction towards KCC and utilization of KCC were found to have a positive correlation with the attitude of respondents towards KCC.

  9. An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

    Directory of Open Access Journals (Sweden)

    Sonia eEmperador

    2015-01-01

    Full Text Available Several homoplasmic pathologic mutations in mitochondrial DNA, such as those causing Leber hereditary optic neuropathy or non-syndromic hearing loss, show incomplete penetrance. Therefore, other elements must modify their pathogenicity. Discovery of these modifying factors is not an easy task because in multifactorial diseases conventional genetic approaches may not always be informative.Here, we have taken an evolutionary approach to unmask putative modifying factors for a particular homoplasmic pathologic mutation causing aminoglycoside-induced and non-syndromic hearing loss, the m.1494C>T transition in the mitochondrial DNA. The mutation is located in the decoding site of the mitochondrial ribosomal RNA. We first looked at mammalian species that had fixed the human pathologic mutation. These mutations are called compensated pathogenic deviations because an organism carrying one must also have another that suppresses the deleterious effect of the first. We found that species from the primate family Cercopithecidae (old world monkeys harbor the m.1494T allele even if their auditory function is normal.In humans the m.1494T allele increases the susceptibility to aminoglycosides. However, in primary fibroblasts from a Cercopithecidae species, aminoglycosides do not impair cell growth, respiratory complex IV activity and quantity or the mitochondrial protein synthesis. Interestingly, these species also carry a fixed mutation in the mitochondrial ribosomal protein S12. We show that the expression of this variant in a human m.1494T cell line reduces its susceptibility to aminoglycosides. Because several mutations in this human protein have been described, they may possibly explain the absence of pathologic phenotype in some pedigree members with the most frequent pathologic mutations in mitochondrial ribosomal RNA.

  10. Mourning Dove Call-count Survey

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The Mourning Dove (Zenaida macroura) Call-Count Survey was developed to provide an index to population size and to detect annual changes in mourning dove breeding...

  11. Mutations in GABRB3

    DEFF Research Database (Denmark)

    Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo

    2017-01-01

    OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing...... of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs. RESULTS: We identified 22 patients with heterozygous mutations in GABRB3, including 3...... probands from multiplex families. The phenotypic spectrum of the mutation carriers ranged from simple febrile seizures, genetic epilepsies with febrile seizures plus, and epilepsy with myoclonic-atonic seizures to West syndrome and other types of severe, early-onset epileptic encephalopathies...

  12. Evaluating erroneous offside calls in soccer

    OpenAIRE

    H?ttermann, Stefanie; No?l, Benjamin; Memmert, Daniel

    2017-01-01

    The ability to simultaneously attend to multiple objects declines with increases in the visual angle separating distant objects. We explored whether these laboratory-measured limits on visual attentional spread generalize to a real life context: offside calls by soccer assistant referees. We coded all offside calls from a full year of first division German soccer matches. By determining the x-y coordinates of the relevant players and assistant referee on the soccer field we were able to calcu...

  13. PRRT2 gene mutations

    Science.gov (United States)

    Gardiner, Alice R.; Bhatia, Kailash P.; Stamelou, Maria; Dale, Russell C.; Kurian, Manju A.; Schneider, Susanne A.; Wali, G.M.; Counihan, Tim; Schapira, Anthony H.; Spacey, Sian D.; Valente, Enza-Maria; Silveira-Moriyama, Laura; Teive, Hélio A.G.; Raskin, Salmo; Sander, Josemir W.; Lees, Andrew; Warner, Tom; Kullmann, Dimitri M.; Wood, Nicholas W.; Hanna, Michael

    2012-01-01

    ABSTRACT Objective: The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions (IC) (PKD/IC syndrome). Episodic neurologic disorders, such as epilepsy, migraine, and paroxysmal movement disorders, often coexist and are thought to have a shared channel-related etiology. To investigate further the frequency, spectrum, and phenotype of PRRT2 mutations, we analyzed this gene in 3 large series of episodic neurologic disorders with PKD/IC, episodic ataxia (EA), and hemiplegic migraine (HM). Methods: The PRRT2 gene was sequenced in 58 family probands/sporadic individuals with PKD/IC, 182 with EA, 128 with HM, and 475 UK and 96 Asian controls. Results: PRRT2 genetic mutations were identified in 28 out of 58 individuals with PKD/IC (48%), 1/182 individuals with EA, and 1/128 individuals with HM. A number of loss-of-function and coding missense mutations were identified; the most common mutation found was the p.R217Pfs*8 insertion. Males were more frequently affected than females (ratio 52:32). There was a high proportion of PRRT2 mutations found in families and sporadic cases with PKD associated with migraine or HM (10 out of 28). One family had EA with HM and another large family had typical HM alone. Conclusions: This work expands the phenotype of mutations in the PRRT2 gene to include the frequent occurrence of migraine and HM with PKD/IC, and the association of mutations with EA and HM and with familial HM alone. We have also extended the PRRT2 mutation type and frequency in PKD and other episodic neurologic disorders. PMID:23077024

  14. Mutations in Lettuce Improvement

    OpenAIRE

    Mou, Beiquan

    2012-01-01

    Lettuce is a major vegetable in western countries. Mutations generated genetic variations and played an important role in the domestication of the crop. Many traits derived from natural and induced mutations, such as dwarfing, early flowering, male sterility, and chlorophyll deficiency, are useful in physiological and genetic studies. Mutants were also used to develop new lettuce products including miniature and herbicide-tolerant cultivars. Mutant analysis was critical in lettuce genomic stu...

  15. Partition Decomposition for Roll Call Data

    CERN Document Server

    Leibon, Greg; Rockmore, Daniel N; Savell, Robert

    2011-01-01

    In this paper we bring to bear some new tools from statistical learning on the analysis of roll call data. We present a new data-driven model for roll call voting that is geometric in nature. We construct the model by adapting the "Partition Decoupling Method," an unsupervised learning technique originally developed for the analysis of families of time series, to produce a multiscale geometric description of a weighted network associated to a set of roll call votes. Central to this approach is the quantitative notion of a "motivation," a cluster-based and learned basis element that serves as a building block in the representation of roll call data. Motivations enable the formulation of a quantitative description of ideology and their data-dependent nature makes possible a quantitative analysis of the evolution of ideological factors. This approach is generally applicable to roll call data and we apply it in particular to the historical roll call voting of the U.S. House and Senate. This methodology provides a...

  16. Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data

    Science.gov (United States)

    Sandmann, Sarah; de Graaf, Aniek O.; Karimi, Mohsen; van der Reijden, Bert A.; Hellström-Lindberg, Eva; Jansen, Joop H.; Dugas, Martin

    2017-01-01

    Valid variant calling results are crucial for the use of next-generation sequencing in clinical routine. However, there are numerous variant calling tools that usually differ in algorithms, filtering strategies, recommendations and thus, also in the output. We evaluated eight open-source tools regarding their ability to call single nucleotide variants and short indels with allelic frequencies as low as 1% in non-matched next-generation sequencing data: GATK HaplotypeCaller, Platypus, VarScan, LoFreq, FreeBayes, SNVer, SAMtools and VarDict. We analysed two real datasets from patients with myelodysplastic syndrome, covering 54 Illumina HiSeq samples and 111 Illumina NextSeq samples. Mutations were validated by re-sequencing on the same platform, on a different platform and expert based review. In addition we considered two simulated datasets with varying coverage and error profiles, covering 50 samples each. In all cases an identical target region consisting of 19 genes (42,322 bp) was analysed. Altogether, no tool succeeded in calling all mutations. High sensitivity was always accompanied by low precision. Influence of varying coverages- and background noise on variant calling was generally low. Taking everything into account, VarDict performed best. However, our results indicate that there is a need to improve reproducibility of the results in the context of multithreading. PMID:28233799

  17. Hourly associations between heat and ambulance calls.

    Science.gov (United States)

    Guo, Yuming

    2017-01-01

    The response speed of ambulance calls is very crucial to rescue patients suffering immediately life threatening conditions. The serious health outcomes might be caused by exposing to extreme heat only several hours before. However, limited evidence is available on this topic. This study aims to examine the hourly association between heat and ambulance calls, to improve the ambulance services and to better protect health. Hourly data on ambulance calls for non-accidental causes, temperature and air pollutants (PM10, NO2, and O3) were collected from Brisbane, Australia, during 2001 and 2007. A time-stratified case-crossover design was used to examine the associations between hourly ambulance calls and temperature during warm season (Nov, Dec, Jan, Feb, and Mar), while adjusting for potential confounders. Stratified analyses were performed for sex and age groups. Ambulance calls peaked at 10am for all groups, except those aged 27 °C) increase the demands of ambulance. This information is helpful to increase the efficiency of ambulance service then save lives, for example, preparing more ambulance before appearance of extremely hot temperature in combination with weather forecast. Also, people should better arrange their time for outdoor activities to avoid exposing to extreme hot temperatures. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Automated detection of Antarctic blue whale calls.

    Science.gov (United States)

    Socheleau, Francois-Xavier; Leroy, Emmanuelle; Pecci, Andres Carvallo; Samaran, Flore; Bonnel, Julien; Royer, Jean-Yves

    2015-11-01

    This paper addresses the problem of automated detection of Z-calls emitted by Antarctic blue whales (B. m. intermedia). The proposed solution is based on a subspace detector of sigmoidal-frequency signals with unknown time-varying amplitude. This detection strategy takes into account frequency variations of blue whale calls as well as the presence of other transient sounds that can interfere with Z-calls (such as airguns or other whale calls). The proposed method has been tested on more than 105 h of acoustic data containing about 2200 Z-calls (as found by an experienced human operator). This method is shown to have a correct-detection rate of up to more than 15% better than the extensible bioacoustic tool package, a spectrogram-based correlation detector commonly used to study blue whales. Because the proposed method relies on subspace detection, it does not suffer from some drawbacks of correlation-based detectors. In particular, it does not require the choice of an a priori fixed and subjective template. The analytic expression of the detection performance is also derived, which provides crucial information for higher level analyses such as animal density estimation from acoustic data. Finally, the detection threshold automatically adapts to the soundscape in order not to violate a user-specified false alarm rate.

  19. Soft calls and broadcast calls in the corncrake as adaptations to short and long range communication.

    Science.gov (United States)

    Ręk, Paweł

    2013-10-01

    Because birds' acoustic signals function in antagonistic interactions between males and in female attraction, a majority of vocalisations are loud. In contrast, some birds, additionally produce soft vocalisations in escalated agonistic and sexual contexts. Nevertheless, the relationship between the acoustic parameters of such signals and their function is not clear. Here I investigate the sound transmission degradation properties of soft and broadcast (loud) calls in the corncrake using calls with natural and changed amplitude. I show that, if played at the same amplitude, the maximum limit for communication distance with soft calls was significantly shorter than that of broadcast calls, indicating that frequency structure is important in determining the range of both signals independently of their amplitude. At the same time, the values of excess attenuation were lower for soft calls than for broadcast calls at most distances, which suggests that the short transmission of soft calls is achieved mostly due to their low and narrow frequency ranges, promoting their masking by ambient noise. Finally, contrary to soft calls, changes in the energy of tails of echoes in broadcast calls were associated with the distance of propagation, which might be useful in assessing the distance to senders. I suggest that the acoustic structure of soft vocalisations can be used to limit the range of the signal, which might be helpful in eavesdropping avoidance, whereas broadcast calls are designed for long-range transmission. Copyright © 2013 Elsevier B.V. All rights reserved.

  20. Echolocation calls and communication calls are controlled differentially in the brainstem of the bat Phyllostomus discolor

    Directory of Open Access Journals (Sweden)

    Schuller Gerd

    2005-08-01

    Full Text Available Abstract Background Echolocating bats emit vocalizations that can be classified either as echolocation calls or communication calls. Neural control of both types of calls must govern the same pool of motoneurons responsible for vocalizations. Electrical microstimulation in the periaqueductal gray matter (PAG elicits both communication and echolocation calls, whereas stimulation of the paralemniscal area (PLA induces only echolocation calls. In both the PAG and the PLA, the current thresholds for triggering natural vocalizations do not habituate to stimuli and remain low even for long stimulation periods, indicating that these structures have relative direct access to the final common pathway for vocalization. This study intended to clarify whether echolocation calls and communication calls are controlled differentially below the level of the PAG via separate vocal pathways before converging on the motoneurons used in vocalization. Results Both structures were probed simultaneously in a single experimental approach. Two stimulation electrodes were chronically implanted within the PAG in order to elicit either echolocation or communication calls. Blockade of the ipsilateral PLA site with iontophoretically application of the glutamate antagonist kynurenic acid did not impede either echolocation or communication calls elicited from the PAG. However, blockade of the contralateral PLA suppresses PAG-elicited echolocation calls but not communication calls. In both cases the blockade was reversible. Conclusion The neural control of echolocation and communication calls seems to be differentially organized below the level of the PAG. The PLA is an essential functional unit for echolocation call control before the descending pathways share again the final common pathway for vocalization.

  1. Detecting clusters of mutations.

    Directory of Open Access Journals (Sweden)

    Tong Zhou

    Full Text Available Positive selection for protein function can lead to multiple mutations within a small stretch of DNA, i.e., to a cluster of mutations. Recently, Wagner proposed a method to detect such mutation clusters. His method, however, did not take into account that residues with high solvent accessibility are inherently more variable than residues with low solvent accessibility. Here, we propose a new algorithm to detect clustered evolution. Our algorithm controls for different substitution probabilities at buried and exposed sites in the tertiary protein structure, and uses random permutations to calculate accurate P values for inferred clusters. We apply the algorithm to genomes of bacteria, fly, and mammals, and find several clusters of mutations in functionally important regions of proteins. Surprisingly, clustered evolution is a relatively rare phenomenon. Only between 2% and 10% of the genes we analyze contain a statistically significant mutation cluster. We also find that not controlling for solvent accessibility leads to an excess of clusters in terminal and solvent-exposed regions of proteins. Our algorithm provides a novel method to identify functionally relevant divergence between groups of species. Moreover, it could also be useful to detect artifacts in automatically assembled genomes.

  2. Call for Implementation Research Proposals: Health Information ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Chaitali Sinha

    2017-04-10

    Apr 10, 2017 ... Introduction. Canada's International Development Research Centre (IDRC) is pleased to announce a call for implementation research proposals to contribute to national and regional efforts to improve health systems responsiveness in West Africa (WA). Two separate but complementary thematic areas of ...

  3. Inhibitors of calling behavior of Plodia interpunctella.

    Science.gov (United States)

    Hirashima, Akinori; Shigeta, Yoko; Eiraku, Tomohiko; Kuwano, Eiichi

    2003-01-01

    Some octopamine agonists were found to suppress the calling behavior of the stored product Indian meal moth, Plodia interpunctella. Compounds were screened using a calling behavior bioassay using female P. interpunctella. Four active derivatives, with inhibitory activity at the nanomolar range, were identified in order of decreasing activity: 2-(1-phenylethylamino)-2-oxazoline > 2-(2-ethyl,6-methylanilino)oxazolidine > 2-(2-methyl benzylamino)-2-thiazoline > 2-(2,6-diethylanilino)thiazolidine. Three-dimensional pharmacophore hypotheses were built from a set of 15 compounds. Among the ten common-featured models generated by the program Catalyst/HipHop, a hypothesis including a hydrogen-bond acceptor lipid, a hydrophobic aromatic and two hydrophobic aliphatic features was considered to be essential for inhibitory activity in the calling behavior. Active compounds mapped well onto all the hydrogen-bond acceptor lipid, hydrophobic aromatic and hydrophobic aliphatic features of the hypothesis. On the other hand, less active compounds were shown not to achieve the energetically favorable conformation that is found in the active molecules in order to fit the 3D common-feature pharmacophore models. The present studies demonstrate that inhibition of calling behavior is via an octopamine receptor.

  4. Inhibitors of calling behavior of Plodia interpunctella

    Directory of Open Access Journals (Sweden)

    Akinori Hirashima

    2003-01-01

    Full Text Available Some octopamine agonists were found to suppress the calling behavior of the stored product Indian meal moth, Plodia interpunctella. Compounds were screened using a calling behavior bioassay using female P. interpunctella. Four active derivatives, with inhibitory activity at the nanomolar range, were identified in order of decreasing activity: 2-(1-phenylethylamino-2-oxazoline > 2-(2-ethyl,6-methylanilinooxazolidine > 2-(2-methyl benzylamino-2-thiazoline > 2-(2,6-diethylanilinothiazolidine. Three-dimensional pharmacophore hypotheses were built from a set of 15 compounds. Among the ten common-featured models generated by the program Catalyst/HipHop, a hypothesis including a hydrogen-bond acceptor lipid, a hydrophobic aromatic and two hydrophobic aliphatic features was considered to be essential for inhibitory activity in the calling behavior. Active compounds mapped well onto all the hydrogen-bond acceptor lipid, hydrophobic aromatic and hydrophobic aliphatic features of the hypothesis. On the other hand, less active compounds were shown not to achieve the energetically favorable conformation that is found in the active molecules in order to fit the 3D common-feature pharmacophore models. The present studies demonstrate that inhibition of calling behavior is via an octopamine receptor.

  5. Make a 21st century phone call

    CERN Multimedia

    Katarina Anthony

    2014-01-01

    Want to avoid roaming charges? Click to call anyone at CERN? How about merging your CERN landline with your existing smartphone? That's all easily done with Lync, CERN's new opt-in service that can take your calls to the next level.   The Lync application on Windows (left) and iPhone (right). Lync unites CERN's traditional telephone service with the digital sphere. "Lync gives you the gift of mobility, by letting you access your CERN landline on the go," explains Pawel Grzywaczewski, service manager of the Lync system. "Once you've registered your CERN telephone with the service, you can run the Lync application and make calls from a range of supported devices. No matter where you are in the world - be it simply out to lunch or off at an international conference - you can make a CERN call as though you were in the office. All you need is an Internet connection!" Following a recent upgrade, CERN's Lync service now has...

  6. Optimization of Overflow Policies in Call Centers

    DEFF Research Database (Denmark)

    Koole, G.M.; Nielsen, B.F.; Nielsen, T.B.

    2015-01-01

    We examine how overflow policies in a multi-skill call center should be designed to accommodate performance measures that depend on waiting time percentiles such as service level. This is done using a discrete Markovian approximation of the waiting time of the first customers waiting in line...... and customers are treated in a FCFS order....

  7. Computer Assisted Language Learning (CALL) Software: Evaluation ...

    African Journals Online (AJOL)

    Evaluating the nature and extent of the influence of Computer Assisted Language Learning (CALL) on the quality of language learning is highly problematic. This is owing to the number and complexity of interacting variables involved in setting the items for teaching and learning languages. This paper identified and ...

  8. Reflections … they called it 'restructuring'[1

    African Journals Online (AJOL)

    HMPG, and indeed publishing globally) was financial,[4] reflecting tough economic times and declining revenues from advertising. JA found herself accepting so-called 'native' advertising (the practice ... online, a change that has been welcomed by CPD participants) and with CME. Merged with SAMJ, the print CME carries ...

  9. Calling, is there anything special about it?

    African Journals Online (AJOL)

    2016-07-15

    Jul 15, 2016 ... Christian frequently meant a break from family and a previous way of life. The decision to follow. Christ made the Christians outsiders to many facets of society, ..... reflected on these 'quantum changes in Christian ministry' and leadership. In a sense, this implies that the calling of a pastor has to be.

  10. Educational Use of Databases in CALL

    Science.gov (United States)

    Beaudoin, Martin

    2004-01-01

    This article presents the idea that databases are very useful tools for teaching languages over the Internet. Databases in Computer Assisted Language Learning (CALL) are commonly used in three ways: for reference sources such as dictionaries, in the management of large websites, and for data processing such as language tests and learners'…

  11. School-Turnaround Call Points Up Challenges

    Science.gov (United States)

    Gewertz, Catherine

    2009-01-01

    The U.S. secretary of education's call to "turn around" the nation's 5,000 worst-performing schools has found a warm welcome among educators and policymakers who see that focus as long overdue. But it has also sparked debate about how--and whether--such an enormous leadership and management challenge can be accomplished. Secretary of…

  12. Don't Call it Poetry

    African Journals Online (AJOL)

    denise

    The IPJP is a joint project of Rhodes University in South Africa and Edith Cowan University in Australia. This document is subject to copyright and may not be reproduced in whole or in part via any medium (print, electronic or otherwise) without the express permission of the publishers. Invited Paper. Don't Call it Poetry.

  13. The function of migratory bird calls

    DEFF Research Database (Denmark)

    Reichl, Thomas; Andersen, Bent Bach; Larsen, Ole Næsbye

    migration and to stimulate migratory restlessness in conspecifics. We wished to test if conspecific flight calls influence the flight direction of a nocturnal migrant, the European Robin (Erithacus rubecula), i.e. if flight calls help migrants keeping course. Wild caught birds showing migratory restlessness...... the experimental bird could be activated successively to simulate a migrating Robin cruising E-W, W-E, S-N or N-S at a chosen height (mostly about 40 m), at 10 m/s and emitting Robin flight calls of 80 dB(A) at 1 m. The simulated flight of a "ding" sound served as a control. During an experiment the bird was first...... allowed to settle and express migratory restlessness for at least 30 minutes. Secondly, the flight simulation axis (e.g. E-W or N-S) with the largest angle relative to the bird's migration course was chosen and "flights" of simulated calling conspecifics or the "ding" sound along this axis continued...

  14. A History of Commitment in CALL.

    Science.gov (United States)

    Jamieson, Joan

    The evolution of computer-assisted language learning (CALL) is examined, focusing on what has changed and what has not changed much during that time. A variety of changes are noted: the development of multimedia capabilities, color, animation, and technical improvement of audio and video quality; availability of databases, better fit between…

  15. Web-Based CALL to Listening Comprehension

    Science.gov (United States)

    Chen, Li-Mei; Zhang, Ruiming

    2010-01-01

    This study investigated effectiveness of Web-based CALL on listening comprehension. Both students' academic performance and attitudes were examined. T-tests were used to analyze the results of students' academic performance. Descriptive statistics interpreted students' attitudes toward this learning. Students' participation was also recorded.…

  16. Bridging CALL & HCI: Input from Participatory Design

    Science.gov (United States)

    Cardenas-Claros, Monica S.; Gruba, Paul A.

    2010-01-01

    Participatory design (PD), or the collaboration between software engineers and end users throughout the design process, may help improve CALL design practices. In this case study, four ESL learners, a software designer, and a language teacher created and evaluated a series of paper prototypes concerning help options in computer-based second…

  17. The TATL Framework for CALL Development

    Science.gov (United States)

    Ni Chiaráin, Neasa; Ni Chasaide, Ailbhe

    2015-01-01

    The Theory Actions Technology Learner context (TATL) framework provides an initial analysis tool to guide Computer-Assisted Language Learning (CALL) development. It entails joint consideration of four key factors that need to be considered prior and during development activities: (1) the underlying pedagogical theory; (2) the learning tasks…

  18. Calling on Students without Fear and Loathing.

    Science.gov (United States)

    Christensen, Terry

    1989-01-01

    One teacher adopted a language teacher's method of calling on students without causing embarrassment by moving quickly from one student to the next, not penalizing students who were unable to respond, praising freely, and using humor. The technique encourages participation and self-confidence. (MSE)

  19. ALS2 mutations

    Science.gov (United States)

    Schneider, Susanne A.; Carr, Lucinda; Deuschl, Guenther; Hopfner, Franziska; Stamelou, Maria; Wood, Nicholas W.; Bhatia, Kailash P.

    2014-01-01

    Objective: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia. Methods: A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used. Results: Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene. Conclusions: We report generalized dystonia and cerebellar signs in association with ALS2-related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype. PMID:24562058

  20. MUTATIONS IN CALMODULIN GENES

    DEFF Research Database (Denmark)

    2013-01-01

    The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

  1. Are There Mutator Polymerases?

    Directory of Open Access Journals (Sweden)

    Miguel Garcia-Diaz

    2003-01-01

    Full Text Available DNA polymerases are involved in different cellular events, including genome replication and DNA repair. In the last few years, a large number of novel DNA polymerases have been discovered, and the biochemical analysis of their properties has revealed a long list of intriguing features. Some of these polymerases have a very low fidelity and have been suggested to play mutator roles in different processes, like translesion synthesis or somatic hypermutation. The current view of these processes is reviewed, and the current understanding of DNA polymerases and their role as mutator enzymes is discussed.

  2. Long-distance calls in Neotropical primates

    Directory of Open Access Journals (Sweden)

    Dilmar A.G. Oliveira

    2004-06-01

    Full Text Available Long-distance calls are widespread among primates. Several studies concentrate on such calls in just one or in few species, while few studies have treated more general trends within the order. The common features that usually characterize these vocalizations are related to long-distance propagation of sounds. The proposed functions of primate long-distance calls can be divided into extragroup and intragroup ones. Extragroup functions relate to mate defense, mate attraction or resource defense, while intragroup functions involve group coordination or alarm. Among Neotropical primates, several species perform long-distance calls that seem more related to intragroup coordination, markedly in atelines. Callitrichids present long-distance calls that are employed both in intragroup coordination and intergroup contests or spacing. Examples of extragroup directed long-distance calls are the duets of titi monkeys and the roars and barks of howler monkeys. Considerable complexity and gradation exist in the long-distance call repertoires of some Neotropical primates, and female long-distance calls are probably more important in non-duetting species than usually thought. Future research must focus on larger trends in the evolution of primate long-distance calls, including the phylogeny of calling repertoires and the relationships between form and function in these signals.Chamados de longo alcance são comuns em primatas. Muitas pesquisas enfocaram tais vocalizações em uma única ou em poucas espécies, enquanto poucos estudos lidaram com padrões mais gerais dentro da ordem. As características comuns que geralmente distinguem estas vocalizações são relacionadas com a transmissão de sons a longa distância. As funções propostas para estas vocalizações podem ser divididas entre intragrupais e extragrupais. Funções extragrupais se relacionam com a defesa e atração de parceiros sexuais ou com a defesa de recursos, enquanto as fun

  3. Peer support telephone calls for improving health.

    Science.gov (United States)

    Dale, Jeremy; Caramlau, Isabela O; Lindenmeyer, Antje; Williams, Susan M

    2008-10-08

    Peer support telephone calls have been used for a wide range of health-related concerns. However, little is known about their effects. To assess the effects of peer support telephone calls in terms of physical (e.g. blood pressure), psychological (e.g. depressive symptoms), and behavioural health outcomes (e.g. uptake of mammography) and other outcomes. We searched: The Cochrane Library databases (CENTRAL, DARE, CDSR) (issue 4 2007); MEDLINE (OVID) (January 1966 to December 2007); EMBASE (OVID) (January 1985 to December 2007); CINAHL (Athens) (January 1966 to December 2007), trials registers and reference lists of articles, with no language restrictions. Randomised controlled trials of peer support interventions delivered by telephone call. Two review authors independently extracted data. We present results narratively and in tabular format. Meta-analysis was not possible due to heterogeneity between studies. We included seven studies involving 2492 participants.Peer support telephone calls were associated with an increase in mammography screening, with 49% of women in the intervention group and 34% of women in the control group receiving a mammogram since the start of the intervention (P peer telephone support calls were found to maintain mammography screening uptake for baseline adherent women (P = 0.029).Peer support telephone calls for post myocardial infarction patients were associated at six months with a change in diet in the intervention and usual care groups of 54% and 44% respectively (P = 0.03). In another study for post myocardial infarction patients there were no significant differences between groups for self-efficacy, health status and mental health outcomes.Peer support telephone calls were associated with greater continuation of breastfeeding in mothers at 3 months post partum (P = 0.01).Peer support telephone calls were associated with reduced depressive symptoms in mothers with postnatal depression (Edinburgh Postnatal Depression Scale (EPDS

  4. Disease-associated mutations prevent GPR56-collagen III interaction.

    Directory of Open Access Journals (Sweden)

    Rong Luo

    Full Text Available GPR56 is a member of the adhesion G protein-coupled receptor (GPCR family. Mutations in GPR56 cause a devastating human brain malformation called bilateral frontoparietal polymicrogyria (BFPP. Using the N-terminal fragment of GPR56 (GPR56(N as a probe, we have recently demonstrated that collagen III is the ligand of GPR56 in the developing brain. In this report, we discover a new functional domain in GPR56(N, the ligand binding domain. This domain contains four disease-associated mutations and two N-glycosylation sites. Our study reveals that although glycosylation is not required for ligand binding, each of the four disease-associated mutations completely abolish the ligand binding ability of GPR56. Our data indicates that these four single missense mutations cause BFPP mostly by abolishing the ability of GPR56 to bind to its ligand, collagen III, in addition to affecting GPR56 protein surface expression as previously shown.

  5. Elevated mutation rate during meiosis in Saccharomyces cerevisiae.

    Science.gov (United States)

    Rattray, Alison; Santoyo, Gustavo; Shafer, Brenda; Strathern, Jeffrey N

    2015-01-01

    Mutations accumulate during all stages of growth, but only germ line mutations contribute to evolution. While meiosis contributes to evolution by reassortment of parental alleles, we show here that the process itself is inherently mutagenic. We have previously shown that the DNA synthesis associated with repair of a double-strand break is about 1000-fold less accurate than S-phase synthesis. Since the process of meiosis involves many programmed DSBs, we reasoned that this repair might also be mutagenic. Indeed, in the early 1960's Magni and Von Borstel observed elevated reversion of recessive alleles during meiosis, and found that the revertants were more likely to be associated with a crossover than non-revertants, a process that they called "the meiotic effect." Here we use a forward mutation reporter (CAN1 HIS3) placed at either a meiotic recombination coldspot or hotspot near the MAT locus on Chromosome III. We find that the increased mutation rate at CAN1 (6 to 21 -fold) correlates with the underlying recombination rate at the locus. Importantly, we show that the elevated mutation rate is fully dependent upon Spo11, the protein that introduces the meiosis specific DSBs. To examine associated recombination we selected for random spores with or without a mutation in CAN1. We find that the mutations isolated this way show an increased association with recombination (crossovers, loss of crossover interference and/or increased gene conversion tracts). Polζ appears to contribute about half of the mutations induced during meiosis, but is not the only source of mutations for the meiotic effect. We see no difference in either the spectrum or distribution of mutations between mitosis and meiosis. The correlation of hotspots with elevated mutagenesis provides a mechanism for organisms to control evolution rates in a gene specific manner.

  6. Calling behaviour under climate change: geographical and seasonal variation of calling temperatures in ectotherms.

    Science.gov (United States)

    Llusia, Diego; Márquez, Rafael; Beltrán, Juan F; Benítez, Maribel; do Amaral, José P

    2013-09-01

    Calling behaviour is strongly temperature-dependent and critical for sexual selection and reproduction in a variety of ectothermic taxa, including anuran amphibians, which are the most globally threatened vertebrates. However, few studies have explored how species respond to distinct thermal environments at time of displaying calling behaviour, and thus it is still unknown whether ongoing climate change might compromise the performance of calling activity in ectotherms. Here, we used new audio-trapping techniques (automated sound recording and detection systems) between 2006 and 2009 to examine annual calling temperatures of five temperate anurans and their patterns of geographical and seasonal variation at the thermal extremes of species ranges, providing insights into the thermal breadths of calling activity of species, and the mechanisms that enable ectotherms to adjust to changing thermal environments. All species showed wide thermal breadths during calling behaviour (above 15 °C) and increases in calling temperatures in extremely warm populations and seasons. Thereby, calling temperatures differed both geographically and seasonally, both in terrestrial and aquatic species, and were 8-22 °C below the specific upper critical thermal limits (CTmax ) and strongly associated with the potential temperatures of each thermal environment (operative temperatures during the potential period of breeding). This suggests that calling behaviour in ectotherms may take place at population-specific thermal ranges, diverging when species are subjected to distinct thermal environments, and might imply plasticity of thermal adjustment mechanisms (seasonal and developmental acclimation) that supply species with means of coping with climate change. Furthermore, the thermal thresholds of calling at the onset of the breeding season were dissimilar between conspecific populations, suggesting that other factors besides temperature are needed to trigger the onset of reproduction. Our

  7. Clinical mutation assay of tumors: new developments.

    Science.gov (United States)

    Starostik, Petr

    2017-01-01

    Mutation detection in tumors started with classical cytogenetics as the method of choice more than 50 years ago. Karyotyping proved to be sensitive enough to detect deletions or duplications of large chromosome segments, and translocations. Over time, new techniques were developed to detect mutations that are much smaller in scope. The availability of Sanger sequencing and the invention of the PCR improved the discriminatory power of mutation detection to just one base change in the genomic DNA sequence. Techniques derived from PCR (allele-specific PCR, qPCR) and improved or modified sequencing methods (capillary electrophoresis, pyrosequencing) considerably increased the efficiency and sample throughput of mutation detection assays. With the advent of massive parallel sequencing [also called next-generation sequencing (NGS)] in the past decade, a major shift to even higher sample throughput and a significant decrease in cost per sequenced base occurred. The application of the new technology provided a whole slew of novel biomarkers and potential therapy targets to improve diagnosis and treatment. It even led to changes in cancer classification as new information on the mutation profile of tumors became available that characterizes some disease entities better than morphology. NGS, which usually interrogates multiple genes at once and is a prime example of a multianalyte assay, started to replace older single analyte assays focused on analysis of one target, one gene. However, the transition to these extremely complex NGS-based assays is associated with multiple challenges. There are issues with adequate tissue source of nucleic acids, sequencing library preparation, bioinformatics, government regulations and oversight, reimbursement, and electronic medical records that need to be resolved to successfully implement the new technology in a clinical laboratory.

  8. Wolfram Syndrome: New Mutations, Different Phenotype

    Science.gov (United States)

    Pasquali, Lorenzo; Lugani, Francesca; Perri, Katia; Russo, Chiara; Tallone, Ramona; Ghiggeri, Gian Marco; Lorini, Renata; d'Annunzio, Giuseppe

    2012-01-01

    Background Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym “DIDMOAD”. The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation. Methodology/Principal Findings We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females). Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected. Conclusions/Significance Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10), deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA). PMID:22238590

  9. Factor V Leiden Mutation and PT 20210 Mutation Test

    Science.gov (United States)

    ... Patient Resources For Health Professionals Subscribe Search Factor V Leiden Mutation and PT 20210 Mutation Send Us ... As Activated Protein C Resistance APC Resistance Factor V R506Q PT G20210A Factor II 20210 Factor II ...

  10. Counselling framework for moderate-penetrance cancer-susceptibility mutations.

    Science.gov (United States)

    Tung, Nadine; Domchek, Susan M; Stadler, Zsofia; Nathanson, Katherine L; Couch, Fergus; Garber, Judy E; Offit, Kenneth; Robson, Mark E

    2016-09-01

    The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical validity for some gene variants and the uncertain clinical utility of most multigene panels. So-called 'moderate-penetrance' gene mutations associated with cancer susceptibility are identified in approximately 2-5% of individuals referred for clinical testing; some of these mutations are potentially actionable. Nevertheless, the appropriate management of individuals harbouring such moderate-penetrance genetic variants is unclear. The cancer risks associated with mutations in moderate-penetrance genes are lower and different than those reported for high-penetrance gene mutations (such as mutations in BRCA1 and BRCA2, and those associated with Lynch syndrome). The extrapolation of guidelines for the management of individuals with high-penetrance variants of cancer-susceptibility genes to the clinical care of patients with moderate-penetrance gene mutations could result in substantial harm. Thus, we provide a framework for clinical decision-making pending the development of a sufficient evidence base to document the clinical utility of the interventions for individuals with inherited moderate-penetrance gene mutations associated with an increased risk of cancer.

  11. Mitochondrial mutations in cancer

    National Research Council Canada - National Science Library

    Brandon, M; Baldi, P; Wallace, D C

    2006-01-01

    ...). The mitochondria are assembled from both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) genes. The mtDNA codes for 37 genes essential of OXPHOS, is present in thousands of copies per cell, and has a very high mutations rate...

  12. 47 CFR 22.921 - 911 call processing procedures; 911-only calling mode.

    Science.gov (United States)

    2010-10-01

    ... calling mode. 22.921 Section 22.921 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) COMMON... procedures; 911-only calling mode. Mobile telephones manufactured after February 13, 2000 that are capable of operating in the analog mode described in the standard document ANSI TIA/EIA-553-A-1999 Mobile Station—Base...

  13. BUSINESS MODELS FOR EXTENDING OF 112 EMERGENCY CALL CENTER CAPABILITIES WITH E-CALL FUNCTION INSERTION

    Directory of Open Access Journals (Sweden)

    Pop Dragos Paul

    2010-12-01

    Full Text Available The present article concerns present status of implementation in Romania and Europe of eCall service and the proposed business models regarding eCall function implementation in Romania. eCall system is used for reliable transmission in case of crush between In Vehicle System and Public Service Answering Point, via the voice channel of cellular and Public Switched Telephone Network (PSTN. eCall service could be initiated automatically or manual the driver. All data presented in this article are part of researches made by authors in the Sectorial Contract Implementation study regarding eCall system, having as partners ITS Romania and Electronic Solution, with the Romanian Ministry of Communication and Information Technology as beneficiary.

  14. Mutations in galactosemia

    Energy Technology Data Exchange (ETDEWEB)

    Reichardt, J.K.V. [Univ. of Southern California School of Medicine, Los Angeles, CA (United States)

    1995-10-01

    This Letter raises four issues concerning two papers on galactosemia published in the March 1995 of the Journal. First, table 2 in the paper by Elsas et al. incorrectly attributes seven galactose-l-phosphate uridyl transferase (GALT) mutations (S135L, L195P, K285N, N314D, R333W, R333G, and K334R). The table also fails to mention that others have reported the same two findings attributed to {open_quotes}Leslie et al.; Elsas et al. and in press{close_quotes} and {open_quotes}Leslie et al.; Elsas et al.{close_quotes} The first finding on the prevalence of the Q188R galactosemia mutation in the G/G Caucasian population has also been described by Ng et al., and the second finding on the correlation of the N314D GALT mutation with the Duarte variant was reported by Lin et al. Second, Elsas et al. suggest that the E203K and N314D mutations may {open_quotes}produce intra-allelic complementation when in cis{close_quotes}. This speculation is supported by the activity data of individual III-2 but is inconsistent with the activities of three other individuals I-1, II-1, and III-1 of the same pedigree. The GALT activity measured in these three individuals suggests a dominant negative effect of E203K in E203K-N314D chromosomes, since they all have less than normal activity. Thus, the preponderance of the data in this paper is at odds with the authors speculation. It is worth recalling that Lin et al. also identified four N314D GALT mutations on 95 galactosemic chromosomes examined. A similar situation also appears to be the case in proband III-1 (with genotype E203K-N314D/IVSC) in the Elsas et al. paper. 9 refs.

  15. What is that Thing Called Computer Science?

    OpenAIRE

    Nadya Schokosva; Irina Buskova

    2013-01-01

    XXI century society, called Knowledge Society, has a direct dependency of the software products, considered by many as the most important development of modern technology. This dependence generates the need of scientists and professionals who research and develop products that meet social demands. This article describes the computer science area as one of the most demanded professions in this reality, and in order to make it known to more people.

  16. What is that Thing Called Computer Science?

    Directory of Open Access Journals (Sweden)

    Nadya Schokosva

    2013-07-01

    Full Text Available XXI century society, called Knowledge Society, has a direct dependency of the software products, considered by many as the most important development of modern technology. This dependence generates the need of scientists and professionals who research and develop products that meet social demands. This article describes the computer science area as one of the most demanded professions in this reality, and in order to make it known to more people.

  17. Sleep Inertia and On-Call Readiness

    Science.gov (United States)

    2000-03-01

    effects of polyphasic & M.J. Colligan (Eds.), New York, and ultrashort sleep schedules. In: Why Spectrum, pp. 553-580. we nap, Evolution, Chronobiology...and Naitoh, P., Kelly, T., & Babkoff, H. (1993) Functions of Polyphasic and Ultrashort Sleep inertia, best time not to wake up? Sleep , C. Stampi Editor...UNCLASSIFIED Defense Technical Information Center Compilation Part Notice ADP010467 TITLE: Sleep Inertia and On-Call Readiness DISTRIBUTION: Approved

  18. Sophie Calle: entre imagens e palavras

    Directory of Open Access Journals (Sweden)

    Annateresa Fabris

    2009-01-01

    Full Text Available A relação de Sophie Calle com dois textos ficcionais, de autoria de Hervé Guibert e Paul Auster, permite discutir um ponto central de sua poética: a atuação como performer, colocada por alguns críticos sob o signo do situacionismo. Como suas performances envolvem uma narrativa, foram analisados seus aspectos fotográficos e verbais, tendo como epicentro Suíte veneziana (1980. Qual o papel da fotografia nas narrativas de Calle, nas quais ela é personagem de si mesma? A fotografia é vestígio de acontecimentos reais e seu aspecto documental corrobora a neutralidade dos relatos escritos. É, ao mesmo tempo, fruto de um gesto performático, o qual, ao designar determinados fatos, converte a realidade em imagem.Sophie Calle's relation to two fictional texts, by Hervé Guibert and Paul Auster, allows us to discuss a central issue in her poetics: the acting as a performer, set by some critics under the sign of Situationism. As her performances comprise a narrative, both their verbal and photographic aspects were analyzed, taking as an epicenter the Venetian suite (1980. What role does photography play in Calle's narratives, in which she is a character of herself? Photography is a trace of real happenings and its documental aspect supports the neutrality of written reports. It is, at the same time, the result of a performative gesture, which, while designating certain facts, converts reality into image.

  19. Managing Capacity at Sparsh Call Centre

    OpenAIRE

    T. T. Niranjan; Samir K. Srivastava

    2008-01-01

    Bangalore based Sparsh Call Centre was set up as a subsidiary of the major telecom software company IP-Trinity, with ambitious plans of becoming a significant player in the booming BPO (business process outsourcing) space. Its strategy, in line with that of its parent group, was to focus on telecom related services. Sparsh began its operations in 2002 with its first client Alfa, a US based VOIP telephone service provider and had three other accounts and employed over 400 people. Financial per...

  20. [Work-family conflict in call center].

    Science.gov (United States)

    Ghislieri, Chiara; Ricotta, Simona; Colombo, Lara

    2012-01-01

    The working environment of call centers, which have seen a significant growth in recent years, has been the subject of several studies aiming at understanding its specific dynamics, with particular attention to the possible causes of stress and discomfort. Despite the fact that the work-family conflict is considered a source of stress responsible for undermining workers' well-being, and as such has been explored in many work environments, there is still very little research specific to call centers. This study had the following aims: to explore work-family conflict perceived by call-center operators taking account of any differences related to respondents'professional and personal characteristics; to understand which demands and resources can have an impact on work-family conflict in this context. The study was carried out on a sample of 898 call center operators in a telecommunications company through the administration of a self-reporting questionnaire. Data analysis included: t-test, one-way analysis of variance, linear correlations and multiple regressions. A higher perception of work-family conflict among workers having a full-time contract was observed compared to those having part-time contracts. Multiple regression analysis identified as sources of influence on work-family conflict: emotional dissonance, uneasiness due customer dissatisfaction, workload, avoidance coping and working hours. Work-family conflict in the context studied is not particularly critical: it is in part influenced by professional and personal characteristics of respondents and primarily caused by work demands. Managerial implications are discussed, especially referred to training activities.

  1. Evaluating erroneous offside calls in soccer.

    Directory of Open Access Journals (Sweden)

    Stefanie Hüttermann

    Full Text Available The ability to simultaneously attend to multiple objects declines with increases in the visual angle separating distant objects. We explored whether these laboratory-measured limits on visual attentional spread generalize to a real life context: offside calls by soccer assistant referees. We coded all offside calls from a full year of first division German soccer matches. By determining the x-y coordinates of the relevant players and assistant referee on the soccer field we were able to calculate how far assistant referees had to spread their visual attention to perform well. Counterintuitively, assistant referees made fewer errors when they were farther away from the action due to an advantageous (smaller visual angle on the game action. The pattern held even when we accounted for individual differences in a laboratory-based attentional spread measure of ten of the assistant referees. Our finding that errors are linked to smaller visual angles may explain the complaints of fans in some situations: Those seated directly behind the assistant referee, further from the players, might actually have it easier to make the right call because the relevant players would form a smaller visual angle.

  2. “Computer Assisted Language Learning” (CALL

    Directory of Open Access Journals (Sweden)

    Nazlı Gündüz

    2005-10-01

    Full Text Available This article will provide an overview of computers; an overview of the history of CALL, itspros and cons, the internet, World Wide Web, Multimedia, and research related to the uses of computers in the language classroom. Also, it also aims to provide some background for the beginnerson using the Internet in language classes today. It discusses some of the common types of Internetactivities that are being used today, what the minimum requirements are for using the Internet forlanguage learning, and some easy activities you can adapt for your classes. Some special terminology related to computers will also be used in this paper. For example, computer assisted language learning(CALL refers to the sets of instructions which need to be loaded into the computer for it to be able to work in the language classroom. It should be borne in mind that CALL does not refer to the use of acomputer by a teacher to type out a worksheet or a class list or preparing his/her own teaching alone.Hardware refers to any computer equipment used, including the computer itself, the keyboard, screen (or the monitor, the disc-drive, and the printer. Software (computer programs refers to the sets of instructions which need to be loaded into the computer for it to be able to work.

  3. Evaluating erroneous offside calls in soccer.

    Science.gov (United States)

    Hüttermann, Stefanie; Noël, Benjamin; Memmert, Daniel

    2017-01-01

    The ability to simultaneously attend to multiple objects declines with increases in the visual angle separating distant objects. We explored whether these laboratory-measured limits on visual attentional spread generalize to a real life context: offside calls by soccer assistant referees. We coded all offside calls from a full year of first division German soccer matches. By determining the x-y coordinates of the relevant players and assistant referee on the soccer field we were able to calculate how far assistant referees had to spread their visual attention to perform well. Counterintuitively, assistant referees made fewer errors when they were farther away from the action due to an advantageous (smaller) visual angle on the game action. The pattern held even when we accounted for individual differences in a laboratory-based attentional spread measure of ten of the assistant referees. Our finding that errors are linked to smaller visual angles may explain the complaints of fans in some situations: Those seated directly behind the assistant referee, further from the players, might actually have it easier to make the right call because the relevant players would form a smaller visual angle.

  4. Research study on call centres in Malta & Gozo

    OpenAIRE

    Gatt & Partners;

    2008-01-01

    This study focuses on the Call Centre sector in Malta. A Call Centre is a centralized office used for the purpose of receiving and transmitting a large volume of requests, mainly by telephone. Types of calls are often divided into Outbound & Inbound. Inbound calls are calls that are initiated by the customer to obtain information, report a malfunction or ask for help. This is substantially different from outbound calls where the agent initiates the call to a customer mostly wit...

  5. Sharing programming resources between Bio* projects through remote procedure call and native call stack strategies

    DEFF Research Database (Denmark)

    Prins, Pjotr; Goto, Naohisa; Yates, Andrew

    2012-01-01

    , and languages sharing the Java Virtual Machine stack. This functionality provides strategies for sharing of software between Bio* projects, which can be exploited more often. Here, we present cross-language examples for sequence translation, and measure throughput of the different options. We compare calling...... into R through native R, RSOAP, Rserve, and RPy interfaces, with the performance of native BioPerl, Biopython, BioJava, and BioRuby implementations, and with call stack bindings to BioJava and the European Molecular Biology Open Software Suite. In general, call stack approaches outperform native Bio...

  6. Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

    Science.gov (United States)

    Mory, Patricia B; Crispim, Felipe; Freire, Maria Beatriz S; Salles, João Eduardo N; Valério, Cynthia M; Godoy-Matos, Amelio F; Dib, Sérgio A; Moisés, Regina S

    2012-09-01

    Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been observed. In this study, we searched for LMNA mutations in patients with various forms of lipodystrophy. We studied 21 unrelated individuals with lipodystrophy. Subjects underwent a complete clinical evaluation and were classified as typical FPLD (n=12), atypical partial lipodystrophy (n=7), or generalized lipodystrophy (n=2). Molecular analysis of LMNA gene, analysis of body fat by dual-energy X-ray absorptiometry, and biochemical measurements were performed. ALL PATIENTS WITH TYPICAL FPLD WERE FOUND TO CARRY LMNA MUTATIONS: seven patients harbored the heterozygous p.R482W (c.1444C>T), two patients harbored the p.R482Q (c.1445G>A), and two individuals harbored the novel heterozygous variant p.N466D (c.1396A>G), all in exon 8. Also, a homozygous p.R584H (c.1751 G>A) mutation in exon 11 was found. Among patients with atypical partial lipodystrophy, two of them were found to have LMNA mutations: a novel heterozygous p.R582C variation (c.1744 C>T) in exon 11 and a heterozygous substitution p.R349W (c.1045C>T) in exon 6. Among patients with generalized lipodystrophy, only one harbored LMNA mutation, a heterozygous p.T10I (c.29C>T) in exon 1. We have identified LMNA mutations in phenotypically diverse lipodystrophies. Also, our study broadens the spectrum of LMNA mutations in lipodystrophy.

  7. A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

    Science.gov (United States)

    Kim, Myeong-Kyu; Park, Man-Seok; Kim, Byeong-Chae; Cho, Ki-Hyun; Kim, Young-Seon; Kim, Jin-Hee; Lee, Min-Cheol; Heo, Tag; Kim, Eun-Young

    2005-08-01

    The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH.

  8. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

    Dyken, J. David Van; Linksvayer, Timothy Arnold; Wade, Michael J.

    2011-01-01

    Abstract Social conflict, in the form of intraspecific selfish "cheating" has been observed in a number of natural systems. However, a formal, evolutionary genetic theory of social cheating that provides an explanatory, predictive framework for these observations is lacking. Here we derive the kin...... selection-mutation balance, which provides an evolutionary null hypothesis for the statics and dynamics of cheating. When social interactions have linear fitness effects and Hamilton´s rule is satisfied, selection is never strong enough to eliminate recurrent cheater mutants from a population, but cheater...... lineages are transient and do not invade. Instead, cheating lineages are eliminated by kin selection but are constantly reintroduced by mutation, maintaining a stable equilibrium frequency of cheaters. The presence of cheaters at equilibrium creates a "cheater load" that selects for mechanisms of cheater...

  9. Calling patterns in human communication dynamics.

    Science.gov (United States)

    Jiang, Zhi-Qiang; Xie, Wen-Jie; Li, Ming-Xia; Podobnik, Boris; Zhou, Wei-Xing; Stanley, H Eugene

    2013-01-29

    Modern technologies not only provide a variety of communication modes (e.g., texting, cell phone conversation, and online instant messaging), but also detailed electronic traces of these communications between individuals. These electronic traces indicate that the interactions occur in temporal bursts. Here, we study intercall duration of communications of the 100,000 most active cell phone users of a Chinese mobile phone operator. We confirm that the intercall durations follow a power-law distribution with an exponential cutoff at the population level but find differences when focusing on individual users. We apply statistical tests at the individual level and find that the intercall durations follow a power-law distribution for only 3,460 individuals (3.46%). The intercall durations for the majority (73.34%) follow a Weibull distribution. We quantify individual users using three measures: out-degree, percentage of outgoing calls, and communication diversity. We find that the cell phone users with a power-law duration distribution fall into three anomalous clusters: robot-based callers, telecom fraud, and telephone sales. This information is of interest to both academics and practitioners, mobile telecom operators in particular. In contrast, the individual users with a Weibull duration distribution form the fourth cluster of ordinary cell phone users. We also discover more information about the calling patterns of these four clusters (e.g., the probability that a user will call the c(r)-th most contact and the probability distribution of burst sizes). Our findings may enable a more detailed analysis of the huge body of data contained in the logs of massive users.

  10. First Class Call Stacks: Exploring Head Reduction

    Directory of Open Access Journals (Sweden)

    Philip Johnson-Freyd

    2016-06-01

    Full Text Available Weak-head normalization is inconsistent with functional extensionality in the call-by-name λ-calculus. We explore this problem from a new angle via the conflict between extensionality and effects. Leveraging ideas from work on the λ-calculus with control, we derive and justify alternative operational semantics and a sequence of abstract machines for performing head reduction. Head reduction avoids the problems with weak-head reduction and extensionality, while our operational semantics and associated abstract machines show us how to retain weak-head reduction's ease of implementation.

  11. Septin mutations in human cancers

    Directory of Open Access Journals (Sweden)

    Elias T Spiliotis

    2016-11-01

    Full Text Available Septins are GTP-binding proteins that are evolutionarily and structurally related to the RAS oncogenes. Septin expression levels are altered in many cancers and new advances point to how abnormal septin expression may contribute to the progression of cancer. In contrast to the RAS GTPases, which are frequently mutated and actively promote tumorigenesis, little is known about the occurrence and role of septin mutations in human cancers. Here, we review septin missense mutations that are currently in the Catalog of Somatic Mutations in Cancer (COSMIC database. The majority of septin mutations occur in tumors of the large intestine, skin, endometrium and stomach. Over 25% of the annotated mutations in SEPT2, SEPT4 and SEPT9 belong to large intestine tumors. From all septins, SEPT9 and SEPT14 exhibit the highest mutation frequencies in skin, stomach and large intestine cancers. While septin mutations occur with frequencies lower than 3%, recurring mutations in several invariant and highly conserved amino acids are found across different septin paralogs and tumor types. Interestingly, a significant number of these mutations occur in the GTP-binding pocket and septin dimerization interfaces. Future studies may determine how these somatic mutations affect septin structure and function, whether they contribute to the progression of specific cancers and if they could serve as tumor-specific biomarkers.

  12. Effects of noise levels and call types on the source levels of killer whale calls.

    Science.gov (United States)

    Holt, Marla M; Noren, Dawn P; Emmons, Candice K

    2011-11-01

    Accurate parameter estimates relevant to the vocal behavior of marine mammals are needed to assess potential effects of anthropogenic sound exposure including how masking noise reduces the active space of sounds used for communication. Information about how these animals modify their vocal behavior in response to noise exposure is also needed for such assessment. Prior studies have reported variations in the source levels of killer whale sounds, and a more recent study reported that killer whales compensate for vessel masking noise by increasing their call amplitude. The objectives of the current study were to investigate the source levels of a variety of call types in southern resident killer whales while also considering background noise level as a likely factor related to call source level variability. The source levels of 763 discrete calls along with corresponding background noise were measured over three summer field seasons in the waters surrounding the San Juan Islands, WA. Both noise level and call type were significant factors on call source levels (1-40 kHz band, range of 135.0-175.7 dB(rms) re 1 [micro sign]Pa at 1 m). These factors should be considered in models that predict how anthropogenic masking noise reduces vocal communication space in marine mammals.

  13. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

    Science.gov (United States)

    Schorderet, Daniel F; Tiab, Leila; Gaillard, Marie-Claire; Lorenz, Birgit; Klainguti, Georges; Kerrison, John B; Traboulsi, Elias I; Munier, Francis L

    2007-05-01

    Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion. The latter form is called idiopathic or motor nystagmus (CIN). Loci on the X chromosome (NYS1) and on 6p12 (NYS2), 7p11.2 (NYS3), and 13q31-q33 (NYS4) have been identified for CIN. The molecular characterization of NYS1 has recently been solved by Tarpey et al., who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus. 2007 Wiley-Liss, Inc.

  14. Probabilistic base calling of Solexa sequencing data

    Directory of Open Access Journals (Sweden)

    Iseli Christian

    2008-10-01

    Full Text Available Abstract Background Solexa/Illumina short-read ultra-high throughput DNA sequencing technology produces millions of short tags (up to 36 bases by parallel sequencing-by-synthesis of DNA colonies. The processing and statistical analysis of such high-throughput data poses new challenges; currently a fair proportion of the tags are routinely discarded due to an inability to match them to a reference sequence, thereby reducing the effective throughput of the technology. Results We propose a novel base calling algorithm using model-based clustering and probability theory to identify ambiguous bases and code them with IUPAC symbols. We also select optimal sub-tags using a score based on information content to remove uncertain bases towards the ends of the reads. Conclusion We show that the method improves genome coverage and number of usable tags as compared with Solexa's data processing pipeline by an average of 15%. An R package is provided which allows fast and accurate base calling of Solexa's fluorescence intensity files and the production of informative diagnostic plots.

  15. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  16. [Obesity based on mutation of genes involved in energy balance].

    Science.gov (United States)

    Hainerová, I

    2007-01-01

    Within the last decade an intensive research led to an identification of several genes which are involved in a regulation of energy balance. In most cases, carriers of these gene mutations do not exhibit further characteristic phenotypic features except for a severe obesity. Obesity based on mutation of one gene product is called monogenic obesity. Mutations in genes for leptin, leptin receptor, proopiomelanocortin, prohormone convertase 1, melanocortin 4 and 3 receptor disrupt the physiological humoral signalization between peripheral signals and the hypothalamic centres of satiety and hunger. Defects of all above mentioned genes lead to phenotype of abnormal eating behaviour followed by a development of severe early-onset obesity. Mutations of melanocortin 4 receptor gene represent the most common cause of monogenic obesity because they are detected in almost 6 % children with early-onset severe obesity. Mutations of the other genes involved in energy homeostasis are very rare. Although these mutations are sporadic we assume that further research of monogenic forms of obesity might lead to our understanding of physiology and pathophysiology of regulation of the energy homeostasis and eating behaviour. Additionally, they may open new approach to the management of eating behaviour and to the treatment of obesity.

  17. Learner Attitudes towards CALL Applications at YADIM

    Directory of Open Access Journals (Sweden)

    Zuhal OKAN & Pınar TORUN

    2014-01-01

    Full Text Available The use of educational technology to assist learners in their language studies has become agreat concern for scholars over the past decade. YADIM (School for Foreign Languages at ÇukurovaUniversity in Turkey has invested substantially to introduce students to computer-based languagelearning materials and to integrate technology into existing curriculum. This paper reports on attitudesof YADİM students towards the use of computer-assisted language learning (CALL and theirperceptions on CALL’s relevancy to their regular classroom work. Surveys and follow-up interviewsexplored how learners see the role of the instructor and the accessibility of the labs. The paper alsolooks at how students assess the impact of technology on their language learning process.

  18. Comprometimento organizacional de trabalhadores de call center

    Directory of Open Access Journals (Sweden)

    Kely César Martins Paiva

    2015-09-01

    Full Text Available RESUMOO Neste artigo, analisa-se como se apresenta o comprometimento organizacional de trabalhadores de um call center, localizado em Belo (A Horizonte (Minas Gerais, Brasil. Após o delineamento conceitual UJ do tema central, são expostos os resultados de um estudo de caso descritivo, realizado com abordagens quantitativa e qualitativa. Os dados de 399 questionários e 22 entrevistas são, respectivamente, tratados estatisticamente e submetidos à análise de conteúdo. A base de comprometimento que predominou entre esses infoproletários foi "obrigação pelo desempenho" e, em menor grau, "afetiva". Foi observado que quanto maior é o seu tempo de experiência nesse tipo de organização, menores são os níveis de comprometimento de modo geral, fatos esclarecidos, parcialmente, por meio das entrevistas.

  19. [The so-called "fox tapeworm"].

    Science.gov (United States)

    Eckert, J; Ammann, R

    1990-01-01

    The so-called "fox tapeworm" (Echinococcus multilocularis), the causative agent of a severe disease in man (alveolar echinococcosis), is presently under public discussion in Switzerland. Therefore, actual information is provided on the life cycle of the parasite, epidemiology, disease in humans, symptomatology, diagnosis, therapy and prophylaxis. It is recommended that in endemic regions hunters handling foxes should wear protective gloves, dead foxes should be transported in plastic bags and wild fruits, berries and vegetables should be carefully washed and--if possible--heated to more than 70 degrees C for some minutes prior to consumption. After contact with foxes or other final hosts (dogs, cats) infected with E. multilocularis, persons should be monitored with the highly sensitive and specific Em2-ELISA for serum antibodies aiming at an early diagnosis and treatment of a potential infection.

  20. Functional characterization of human cancer-derived TRKB mutations.

    Directory of Open Access Journals (Sweden)

    Thomas R Geiger

    Full Text Available Cancer originates from cells that have acquired mutations in genes critical for controlling cell proliferation, survival and differentiation. Often, tumors continue to depend on these so-called driver mutations, providing the rationale for targeted anticancer therapies. To date, large-scale sequencing analyses have revealed hundreds of mutations in human tumors. However, without their functional validation it remains unclear which mutations correspond to driver, or rather bystander, mutations and, therefore, whether the mutated gene represents a target for therapeutic intervention. In human colorectal tumors, the neurotrophic receptor TRKB has been found mutated on two different sites in its kinase domain (TRKB(T695I and TRKB(D751N. Another site, in the extracellular part of TRKB, is mutated in a human lung adenocarcinoma cell line (TRKB(L138F. Lastly, our own analysis has identified one additional TRKB point mutation proximal to the kinase domain (TRKB(P507L in a human melanoma cell line. The functional consequences of all these point mutations, however, have so far remained elusive. Previously, we have shown that TRKB is a potent suppressor of anoikis and that TRKB-expressing cells form highly invasive and metastatic tumors in nude mice. To assess the functional consequences of these four TRKB mutations, we determined their potential to suppress anoikis and to form tumors in nude mice. Unexpectedly, both colon cancer-derived mutants, TRKB(T695I and TRKB(D751N, displayed reduced activity compared to that of wild-type TRKB. Consistently, upon stimulation with the TRKB ligand BDNF, these mutants were impaired in activating TRKB and its downstream effectors AKT and ERK. The two mutants derived from human tumor cell lines (TRKB(L138F and TRKB(P507L were functionally indistinguishable from wild-type TRKB in both in-vitro and in-vivo assays. In conclusion, we fail to detect any gain-of-function of four cancer-derived TRKB point mutations.

  1. Multivariate Analysis of Variance: Finding significant growth in mice with craniofacial dysmorphology caused by the Crouzon mutation

    DEFF Research Database (Denmark)

    Thorup, Signe Strann; Ólafsdóttir, Hildur; Darvann, Tron Andre

    2010-01-01

    Crouzon syndrome is characterized by growth disturbances caused by premature fusion of the cranial growth zones. A mouse model with mutation Fgfr2C342Y, equivalent to the most common Crouzon syndrome mutation (henceforth called the Crouzon mouse model), has a phenotype showing many parallels to t...

  2. Staffing to Maximize Profit for Call Centers with Impatient and Repeat-Calling Customers

    Directory of Open Access Journals (Sweden)

    Jun Gong

    2015-01-01

    Full Text Available Motivated by call center practice, we study the optimal staffing of many-server queues with impatient and repeat-calling customers. A call center is modeled as an M/M/s+M queue, which is developed to a behavioral queuing model in which customers come and go based on their satisfaction with waiting time. We explicitly take into account customer repeat behavior, which implies that satisfied customers might return and have an impact on the arrival rate. Optimality is defined as the number of agents that maximize revenues net of staffing costs, and we account for the characteristic that revenues are a direct function of staffing. Finally, we use numerical experiments to make certain comparisons with traditional models that do not consider customer repeat behavior. Furthermore, we indicate how managers might allocate staffing optimally with various customer behavior mechanisms.

  3. Sharing programming resources between Bio* projects through remote procedure call and native call stack strategies.

    Science.gov (United States)

    Prins, Pjotr; Goto, Naohisa; Yates, Andrew; Gautier, Laurent; Willis, Scooter; Fields, Christopher; Katayama, Toshiaki

    2012-01-01

    Open-source software (OSS) encourages computer programmers to reuse software components written by others. In evolutionary bioinformatics, OSS comes in a broad range of programming languages, including C/C++, Perl, Python, Ruby, Java, and R. To avoid writing the same functionality multiple times for different languages, it is possible to share components by bridging computer languages and Bio* projects, such as BioPerl, Biopython, BioRuby, BioJava, and R/Bioconductor. In this chapter, we compare the two principal approaches for sharing software between different programming languages: either by remote procedure call (RPC) or by sharing a local call stack. RPC provides a language-independent protocol over a network interface; examples are RSOAP and Rserve. The local call stack provides a between-language mapping not over the network interface, but directly in computer memory; examples are R bindings, RPy, and languages sharing the Java Virtual Machine stack. This functionality provides strategies for sharing of software between Bio* projects, which can be exploited more often. Here, we present cross-language examples for sequence translation, and measure throughput of the different options. We compare calling into R through native R, RSOAP, Rserve, and RPy interfaces, with the performance of native BioPerl, Biopython, BioJava, and BioRuby implementations, and with call stack bindings to BioJava and the European Molecular Biology Open Software Suite. In general, call stack approaches outperform native Bio* implementations and these, in turn, outperform RPC-based approaches. To test and compare strategies, we provide a downloadable BioNode image with all examples, tools, and libraries included. The BioNode image can be run on VirtualBox-supported operating systems, including Windows, OSX, and Linux.

  4. BRAF mutations in conjunctival melanoma

    DEFF Research Database (Denmark)

    Larsen, Ann-Cathrine; Dahl, Christina; Dahmcke, Christina M.

    2016-01-01

    Purpose: To investigate incidence, clinicopathological features and prognosis of BRAF-mutated conjunctival melanoma in Denmark. Furthermore, to determine BRAF mutations in paired premalignant lesions and evaluate immunohistochemical BRAF V600E oncoprotein detection. Methods: Data from 139 patients...... with conjunctival melanoma (1960–2012) were collected. Archived conjunctival melanoma samples and premalignant lesions were analysed for BRAF mutations using droplet digital polymerase chain reaction (PCR). Results were associated with clinicopathological features and compared with BRAF V600E oncoprotein stainings...... with atypia. BRAF mutations were identified in 39 of 111 (35%) cases. The rate ratio of BRAF-mutated versus BRAF-wild-type melanoma did not change over time. BRAF mutations were associated with T1 stage (p = 0.007), young age (p = 0.001), male gender (p = 0.02), sun-exposed location (p = 0.01), mixed...

  5. Preliminary comparison of calls of the hybridizing fur seals ...

    African Journals Online (AJOL)

    Five call types were compared: barking, guttural challenges and territorial calls emitted by adult males; the pup attraction call used by adult females and the response: ... Since many of the differences in male calls are audible to the human ear, female seals can presumably also hear these differences and we suggest that ...

  6. Linking Calling Orientations to Organizational Attachment via Organizational Instrumentality

    Science.gov (United States)

    Cardador, M. Teresa; Dane, Erik; Pratt, Michael G.

    2011-01-01

    Despite an emerging interest in callings, researchers know little about whether calling orientations matter in the workplace. We explore the under-examined relationship between a calling orientation and employees' attachment to their organizations. Although some theory suggests that callings may be negatively related to organizational attachment,…

  7. Mutation in Aldosterone Producing Adenoma

    Directory of Open Access Journals (Sweden)

    Jian-Jhong Wang

    2017-09-01

    Full Text Available Discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas (APAs with distinct clinical presentations and pathological features. Catenin β1 (CTNNB1 mutation in APAs has been recently described and discussed in the literature. However, significant knowledge gaps still remain regarding the prevalence, clinical characteristics, pathophysiology, and outcomes in APA patients harboring CTNNB1 mutations. Aberrant activation of the Wnt/β-catenin signaling pathway will further modulate tumorigenesis. We also discuss the recent knowledge of CTNNB1 mutation in adrenal adenomas.

  8. REMINDER: In a medical emergency call 74444

    CERN Multimedia

    2005-01-01

    What happened? A CERN colleague, complaining of pains that might indicate serious heart problem, went to the ?infirmary' on the Prévessin site for medical aid. He was unaware that the ?infirmary' was in fact no such thing, but the office of the French contractors' medical practitioner, and, on top of that, it was closed. He therefore took his own car and went to the CERN Fire Station on the Meyrin Site (Building 65). The firemen and the CERN medical team took care of him and requested helicopter transport to the Geneva cantonal hospital, where he responded well to medical treatment. What do we learn from this event? You must call the CERN internal number 74444 in the event of serious and acute illness, and do not have to present yourself in person or get somebody to go with you. This number is not reserved exclusively for accident, pollution, fire etc. The Firemen can prodice professional assistance at all times as required: first aid on the spot, amulance transport and medical assistance as necessary. ...

  9. DOCSS: doctors on-call smartphone study.

    Science.gov (United States)

    O'Reilly, M K; Nason, G J; Liddy, S; Fitzgerald, C W; Kelly, M E; Shields, C

    2014-12-01

    Smartphones have revolutionised our demands for constant access to information. The usage of smartphones in the clinical setting is becoming widespread. The aim of our study was to assess smartphone ownership and usage across a cohort of interns. A voluntary novel questionnaire was distributed to interns in two university hospitals. Details regarding smartphone ownership and usage were assessed. Likert scales were utilised for analysis. Sixty-one (74.4 %) interns responded to the survey. Sixty (98.4 %) owned a smartphone with iPhone(®) being the most popular (76.7 %). Fifty-five (91.6 %) interns have downloaded medical applications ('apps'), while 29 (52.3 %) reported paying for them. Regarding smartphone use on-call, 30 (50 %) interns agreed it aids diagnoses, 26 (43 %) agree it helped in interpreting laboratory values, 31 (51.7 %) agreed it helped in dosing of medication and 33 (55 %) agreed it was of assistance in medical emergency protocols. Forty-two (70 %), 42 (70 %) and 46 (76.7 %) interns agreed or strongly agreed smartphones have a positive influence on them in terms of levels of stress, confidence and level of knowledge, respectively. Smartphone usage is widespread among our intern cohort. The introduction of hospital applications with local guidelines would be welcomed; however, this may require informed patient consent regarding their use.

  10. From Systematic Review to Call for Action.

    Science.gov (United States)

    Sawin, Erika Metzler; Sobel, Linda L; Annan, Sandra L; Schminkey, Donna L

    2017-06-01

    Intimate partner violence (IPV) is a global public health and criminal justice concern with significant impacts; especially high rates are seen among rural Hispanic American (HA) communities, the fastest growing population in the United States. They experience additional barriers to care including extreme poverty, lesser education, gender norms, and language and immigration issues. A systematic literature review was conducted using Cooper's framework to identify evidence supporting associations between interventions and prevention, reduction, and elimination of IPV among rural HA women. Searches conducted on databases including CINAHL, PubMed, Medline, Women's Studies International, MedicLatina, and JSTOR used the MeSH terms Hispanic Americans (Latino/a and Hispanic), domestic violence, and intimate partner violence. Selected studies were published between January 1, 2000, and January 1, 2014. Of the 617 yielded articles, only 6 met the inclusion criteria. Of these, none closely examined rurality or provided valid and reliable measures of outcomes, instead reporting program descriptions and suggested interventions. We identify key findings to guide program, screening, and tool development. Our study identifies a gap in knowledge, research, and effective practices and issues a call for action to create evidence-based tools to prevent, reduce, and eliminate IPV in these underserved populations.

  11. McNamara calls for action now.

    Science.gov (United States)

    1992-05-01

    Robert McNamara outlined a 6 point global family planning (FP) program he designed to expand FP services to answer unmet need. The plan calls for Fp spending to increase to US$8 billion by 2000. For the US this would mean an increase from US$800 million to US$3.5 billion. This amount is very, very small compared to the total amount spent on official development assistance projected for Organization for Economic Cooperation and Development (OECD) countries. It is easily within the capabilities of OECD countries to meet this goal. The plan would develop a system in which the World Bank and the UNFPA would work together with each developing country to establish population target levels. The World Bank would assume responsibility for organizing external financing and serve as a last resort source of financing. Japan must also begin to take a leadership role more in line with its economic power. Currently it spends only .32% of its GNP to aid developing countries, despite the fact that its per capita income is 20% larger than any other OECD member. This means raising spending form US$9 billion to US$14.5 billion. This could be done easily by raising it US$500 million/year and planning to increase this US$1 billion by 2000.

  12. Rare disease registries: a call to action.

    Science.gov (United States)

    Lacaze, Paul; Millis, Nicole; Fookes, Megan; Zurynski, Yvonne; Jaffe, Adam; Bellgard, Matthew; Winship, Ingrid; McNeil, John; Bittles, Alan H

    2017-09-01

    When registries collect accurate clinical data over time, they can act as fundamental support structures for patients and their families and powerful cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life and survival. Registries are critical for rare diseases (RD) with low prevalence and propensity for variation in treatment and outcomes. Rare Voices Australia is leading a call for action to the research and clinical community to prioritise RD data collection and develop an integrated RD Registry strategy for Australia. Financial, operational and governance challenges exist for establishing and maintaining RD registries. As a multidisciplinary team whose interests converge on RD, we highlight the need for the establishment of an Australian RD Registry Alliance. This 'umbrella' organisation will: (i) bring together existing RD registries across Australia; (ii) establish National RD Registry Standards to support interoperability and cohesion across registries; (iii) develop strategies to attract sustainable funding from government and other sources to maximise the utility of existing RD registries and support the development of new RD registries. The most important role for the Alliance would be to use the RD registries for translational research to address current knowledge gaps about RD and to improve the care for the over 1.4 million Australians estimated to live with RD. © 2017 Royal Australasian College of Physicians.

  13. Another call to increase STEM education

    Science.gov (United States)

    Showstack, Randy

    2011-07-01

    As science, technology, engineering, and mathematics (STEM) education becomes increasingly important, U.S. students are lagging behind other nations on international assessments, according to a recent Trends in International Mathematics and Science study. A 22 June report from the U.S. National Research Council (NRC) calls for increasing the focus on STEM education in the United States. “To make progress in improving STEM education for all students, policy makers at the national, state, and local levels should elevate science to the same level of importance as reading and mathematics,” states the report, “Successful K-12 STEM Education: Identifying Effective Approaches in Science, Technology, Engineering, and Mathematics.” It outlines several goals: expand the number of students who pursue advanced degrees and careers in STEM fields; expand the STEM-capable workforce, while also broadening the participation of women and minorities; and increase STEM literacy for all students, whether or not they pursue STEM-related careers or additional study in those areas.

  14. Mitigating Handoff Call Dropping in Wireless Cellular Networks: A Call Admission Control Technique

    Science.gov (United States)

    Ekpenyong, Moses Effiong; Udoh, Victoria Idia; Bassey, Udoma James

    2016-06-01

    Handoff management has been an important but challenging issue in the field of wireless communication. It seeks to maintain seamless connectivity of mobile users changing their points of attachment from one base station to another. This paper derives a call admission control model and establishes an optimal step-size coefficient (k) that regulates the admission probability of handoff calls. An operational CDMA network carrier was investigated through the analysis of empirical data collected over a period of 1 month, to verify the performance of the network. Our findings revealed that approximately 23 % of calls in the existing system were lost, while 40 % of the calls (on the average) were successfully admitted. A simulation of the proposed model was then carried out under ideal network conditions to study the relationship between the various network parameters and validate our claim. Simulation results showed that increasing the step-size coefficient degrades the network performance. Even at optimum step-size (k), the network could still be compromised in the presence of severe network crises, but our model was able to recover from these problems and still functions normally.

  15. Optimal temporal placement of the call in beach volleyball

    Directory of Open Access Journals (Sweden)

    Stefan Künzell

    2016-05-01

    Full Text Available The call is a tactical component in beach volleyball attacks. Through the call, the setter indicates to his or her teammate an open spot in the opponent’s court. In two experimental conditions, we investigated the interval between the call and the ball-hand contact (“call shot interval”, CSI of top-level athletes. We show that the probability that a given call is followed is dependent on the duration of the CSI and the number of call options. Longer CSIs result in an increased probability that the given call will be followed, whilst increasing the call options results in a decrease in probability. On average, there is a 50% probability that the call will be followed if the call precedes the shot by 460 ms and if a single call option (“line” is expected. If the attacker has to choose between three call options (“line”, “cut”, “no-one” a 50% probability that the call will be followed is observed at an CSI of 542 ms. It did not appear that gender influenced the ability to follow a call. We recommend that in practice and in competition, players and coaches should consider the proper duration of the CSI for effective calling.

  16. SDH mutations in cancer.

    Science.gov (United States)

    Bardella, Chiara; Pollard, Patrick J; Tomlinson, Ian

    2011-11-01

    The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two essential energy-producing metabolic processes of the cell, the Krebs cycle and the electron transport chain. Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. Owing to the central function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis. 2011 Elsevier B.V. All rights reserved.

  17. Effectiveness of the call in beach volleyball attacking play.

    Science.gov (United States)

    Künzell, Stefan; Schweikart, Florian; Köhn, Daniel; Schläppi-Lienhard, Olivia

    2014-12-09

    In beach volleyball the setter has the opportunity to give her or his hitter a "call". The call intends that the setter suggests to her or his partner where to place the attack in the opponent's court. The effectiveness of a call is still unknown. We investigated the women's and men's Swiss National Beach Volleyball Championships in 2011 and analyzed 2185 attacks. We found large differences between female and male players. While men called in only 38.4% of attacks, women used calls in 85.5% of attacks. If the male players followed a given call, 63% of the attacks were successful. The success rate of attacks without any call was 55.8% and 47.6% when the call was ignored. These differences were not significant (χ(2)(2) = 4.55, p = 0.103). In women's beach volleyball, the rate of successful attacks was 61.5% when a call was followed, 35% for attacks without a call, and 42.6% when a call was ignored. The differences were highly significant (χ(2)(2) = 23.42, p call was effective in women's beach volleyball, while its effect in men's game was unclear. Considering the quality of calls we indicate that there is a significant potential to increase the effectiveness of a call.

  18. Non-song social call bouts of migrating humpback whales.

    Science.gov (United States)

    Rekdahl, Melinda L; Dunlop, Rebecca A; Goldizen, Anne W; Garland, Ellen C; Biassoni, Nicoletta; Miller, Patrick; Noad, Michael J

    2015-06-01

    The use of stereotyped calls within structured bouts has been described for a number of species and may increase the information potential of call repertoires. Humpback whales produce a repertoire of social calls, although little is known about the complexity or function of these calls. In this study, digital acoustic tag recordings were used to investigate social call use within bouts, the use of bouts across different social contexts, and whether particular call type combinations were favored. Call order within bouts was investigated using call transition frequencies and information theory techniques. Call bouts were defined through analysis of inter-call intervals, as any calls within 3.9 s of each other. Bouts were produced significantly more when new whales joined a group compared to groups that did not change membership, and in groups containing multiple adults escorting a female and calf compared to adult only groups. Although social calls tended to be produced in bouts, there were few repeated bout types. However, the order in which most call types were produced within bouts was non-random and dependent on the preceding call type. These bouts appear to be at least partially governed by rules for how individual components are combined.

  19. Plant mutation breeding and biotechnology

    National Research Council Canada - National Science Library

    Shu, Q. Y; Forster, Brian P; Nakagawa, H

    2012-01-01

    ... (FAO / IAEA) Division of Nuclear Techniques in Food and Agriculture, with its global coordinating and synergistic roles, that plant mutation breeding became a common tool available to plant breeders worldwide. Since these early days the Joint Division continues to play a considerable role in fostering the use of mutation techni...

  20. Novel bacteriophage lambda mutation affecting lambda head assembly.

    Science.gov (United States)

    Georgopoulos, C P; Bisig, R; Magazin, M; Eisen, H; Court, D

    1979-02-01

    A novel phage lambda mutation, called dc10, which interferes with proper lambda head assembly has been isolated and characterized. Phage lambda carrying this mutation is (i) unable to form plaques at 30 or 37 degrees C but does so at 42 degrees C and (ii) unable to form plaques at 42 degrees C on pN-constitutive hosts. Both properties are due to dc10 since all phage revertants for one phenotype simultaneously lose the other phenotype and vice versa. The dc10 mutation has been mapped in the B gene and has been shown to be dominant over the corresponding wild-type product. At 30 degrees C the dc10 mutation results in the formation of abnormal petit lambda heads made up of pE, pB, pC, and pNu3. Under pN-constitutive conditions, the dc10 mutation results in the formation of abnormal petit lambda heads made of pE, X1, and X2 only. A model to explain the data is presented.

  1. MPL mutations in myeloproliferative disorders

    DEFF Research Database (Denmark)

    Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.

    2008-01-01

    Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

  2. Calling under pressure: Short-finned pilot whales make social calls during deep foraging dives

    DEFF Research Database (Denmark)

    Jensen, Frants Havmand; Marrero Perez, Jacobo; Johnson, Mark

    2011-01-01

    Toothed whales rely on sound to echolocate prey and communicate with conspecifics, but little is known about how extreme pressure affects pneumatic sound production in deep-diving species with a limited air supply. The short-finned pilot whale (Globicephala macrorhynchus) is a highly social species...... among the deep-diving toothed whales, in which individuals socialize at the surface but leave their social group in pursuit of prey at depths of up to 1000 m. To investigate if these animals communicate acoustically at depth and test whether hydrostatic pressure affects communication signals, acoustic...... DTAGs logging sound, depth and orientation were attached to 12 pilot whales. Tagged whales produced tonal calls during deep foraging dives at depths of up to 800 m. Mean call output and duration decreased with depth despite the increased distance to conspecifics at the surface. This shows...

  3. El discurso de la calle: una mirada psicoanalitica al denominado habitante de la calle

    Directory of Open Access Journals (Sweden)

    Jairo Baez

    2013-07-01

    Full Text Available Se presentan los resultados de investigación del proyecto: “El lugar del sujeto en condición de habitante de la calle de la localidad de Suba”. Una propuesta de investigación-intervención, dirigida por el interrogante: ¿Cómo se sitúa un sujeto frente al otro, el otro y su mismidad para llegar a la configuración de su ser, decir y hacer desde el habitar en la calle? Metodológicamente, se desarrolló un trabajo de escucha de carácter analítico, con habitantes de la calle y funcionarios de dicha localidad. El sujeto se halla inscrito en el discurso de la calle, donde, a partir de su posicionamiento ha configurado su ser, decir y hacer, así como el establecimiento del lazo social. Abstract This research paper shows the results of a project named: “The place of the subject as a street in habitant in Suba”. It is a research and intervention proposal, guided by the questions: How does a subject consider himself in relation with another subject? How does a subject and his uniqueness to come to his own being? Does it take into account their living in the street? A listening exercise using an analytical method was developed with street in habitants and officials of the above-mentioned locality. The subject is enrolled in the test, their speech sampled via a series of questions, and the subject is asked why the subject has set his being, why the subject gives these answers, as well as their establishment in the social ties in their networks.

  4. Evolutionary Accessibility of Mutational Pathways

    Science.gov (United States)

    Franke, Jasper; Klözer, Alexander; de Visser, J. Arjan G. M.; Krug, Joachim

    2011-01-01

    Functional effects of different mutations are known to combine to the total effect in highly nontrivial ways. For the trait under evolutionary selection (‘fitness’), measured values over all possible combinations of a set of mutations yield a fitness landscape that determines which mutational states can be reached from a given initial genotype. Understanding the accessibility properties of fitness landscapes is conceptually important in answering questions about the predictability and repeatability of evolutionary adaptation. Here we theoretically investigate accessibility of the globally optimal state on a wide variety of model landscapes, including landscapes with tunable ruggedness as well as neutral ‘holey’ landscapes. We define a mutational pathway to be accessible if it contains the minimal number of mutations required to reach the target genotype, and if fitness increases in each mutational step. Under this definition accessibility is high, in the sense that at least one accessible pathway exists with a substantial probability that approaches unity as the dimensionality of the fitness landscape (set by the number of mutational loci) becomes large. At the same time the number of alternative accessible pathways grows without bounds. We test the model predictions against an empirical 8-locus fitness landscape obtained for the filamentous fungus Aspergillus niger. By analyzing subgraphs of the full landscape containing different subsets of mutations, we are able to probe the mutational distance scale in the empirical data. The predicted effect of high accessibility is supported by the empirical data and is very robust, which we argue reflects the generic topology of sequence spaces. Together with the restrictive assumptions that lie in our definition of accessibility, this implies that the globally optimal configuration should be accessible to genome wide evolution, but the repeatability of evolutionary trajectories is limited owing to the presence of a

  5. The mutation of racism

    OpenAIRE

    Michel Wieviorka

    2014-01-01

    After the last war it would have seemed racism and antisemitism were called to disappear. But today they have come back and the history of their return can be traced back. Antisemitism would seem to have been relaunched as anticapitalism and as support in the fight for freedom of the palestinian people —or asenvy, mainly islamic, of today’s jews’ success in their settlement—. Racism on the other hand has suffered a transformation from the physical to the cultural and is activated today throug...

  6. No Call for Action? Why There Is No Union (Yet in Philippine Call Centers

    Directory of Open Access Journals (Sweden)

    Niklas Reese

    2013-01-01

    Full Text Available This contribution presents findings from a qualitative study which focused on young urban professionals in the Philippines who work(ed in international call centers – workplaces usually characterized by job insecurity and other forms of precarity, factory-like working conditions, and disembeddedness. Nevertheless, trade unions in these centers have not come into existence. Why collective action is not chosen by call center agents as an option to tackle the above mentioned problems – this is what the research project this article is based on tried to understand. After outlining some workrelated problems identified by Filipino call center agents, the article will focus on the strategies the agents employ to counter these problems (mainly accommodation and everyday resistance. By highlighting five objective and five subjective reasons (or reasons by circumstances and reasons by framing, we conclude that it is not repressive regulation policies, but rather the formative power and the internalization of discourses of rule within individual life strategies that are preventing the establishment of unions and other collective action structures.

  7. Effectiveness of the Call in Beach Volleyball Attacking Play

    Directory of Open Access Journals (Sweden)

    Künzell Stefan

    2014-12-01

    Full Text Available In beach volleyball the setter has the opportunity to give her or his hitter a “call”. The call intends that the setter suggests to her or his partner where to place the attack in the opponent’s court. The effectiveness of a call is still unknown. We investigated the women’s and men’s Swiss National Beach Volleyball Championships in 2011 and analyzed 2185 attacks. We found large differences between female and male players. While men called in only 38.4% of attacks, women used calls in 85.5% of attacks. If the male players followed a given call, 63% of the attacks were successful. The success rate of attacks without any call was 55.8% and 47.6% when the call was ignored. These differences were not significant (χ2(2 = 4.55, p = 0.103. In women’s beach volleyball, the rate of successful attacks was 61.5% when a call was followed, 35% for attacks without a call, and 42.6% when a call was ignored. The differences were highly significant (χ2(2 = 23.42, p < 0.0005. Taking into account the findings of the present study, we suggested that the call was effective in women’s beach volleyball, while its effect in men’s game was unclear. Considering the quality of calls we indicate that there is a significant potential to increase the effectiveness of a call.

  8. Mutational meltdown in laboratory yeast populations

    NARCIS (Netherlands)

    Zeyl, C.; Mizesko, M.; Visser, de J.A.G.M.

    2001-01-01

    In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because

  9. A simple strategy for reducing false negatives in calling variants from single-cell sequencing data.

    Directory of Open Access Journals (Sweden)

    Cong Ji

    Full Text Available Due to the growth of interest in single-cell genomics, computational methods for distinguishing true variants from artifacts are highly desirable. While special attention has been paid to false positives in variant or mutation calling from single-cell sequencing data, an equally important but often neglected issue is that of false negatives derived from allele dropout during the amplification of single cell genomes. In this paper, we propose a simple strategy to reduce the false negatives in single-cell sequencing data analysis. Simulation results show that this method is highly reliable, with an error rate of 4.94×10-5, which is orders of magnitude lower than the expected false negative rate (~34% estimated from a single-cell exome dataset, though the method is limited by the low SNP density in the human genome. We applied this method to analyze the exome data of a few dozen single tumor cells generated in previous studies, and extracted cell specific mutation information for a small set of sites. Interestingly, we found that there are difficulties in using the classical clonal model of tumor cell growth to explain the mutation patterns observed in some tumor cells.

  10. Correlated Electrostatic Mutations Provide a Reservoir of Stability in HIV Protease

    Science.gov (United States)

    Haq, Omar; Andrec, Michael; Morozov, Alexandre V.; Levy, Ronald M.

    2012-01-01

    HIV protease, an aspartyl protease crucial to the life cycle of HIV, is the target of many drug development programs. Though many protease inhibitors are on the market, protease eventually evades these drugs by mutating at a rapid pace and building drug resistance. The drug resistance mutations, called primary mutations, are often destabilizing to the enzyme and this loss of stability has to be compensated for. Using a coarse-grained biophysical energy model together with statistical inference methods, we observe that accessory mutations of charged residues increase protein stability, playing a key role in compensating for destabilizing primary drug resistance mutations. Increased stability is intimately related to correlations between electrostatic mutations – uncorrelated mutations would strongly destabilize the enzyme. Additionally, statistical modeling indicates that the network of correlated electrostatic mutations has a simple topology and has evolved to minimize frustrated interactions. The model's statistical coupling parameters reflect this lack of frustration and strongly distinguish like-charge electrostatic interactions from unlike-charge interactions for of the most significantly correlated double mutants. Finally, we demonstrate that our model has considerable predictive power and can be used to predict complex mutation patterns, that have not yet been observed due to finite sample size effects, and which are likely to exist within the larger patient population whose virus has not yet been sequenced. PMID:22969420

  11. Monoallelic mutation analysis (MAMA) for identifying germline mutations.

    Science.gov (United States)

    Papadopoulos, N; Leach, F S; Kinzler, K W; Vogelstein, B

    1995-09-01

    Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic mutation analysis). We have demonstrated the utility of this strategy in two different hereditary colorectal cancer syndromes, one caused by a defective tumour suppressor gene on chromosome 5 (familial adenomatous polyposis, FAP) and the other caused by a defective mismatch repair gene on chromosome 2 (hereditary non-polyposis colorectal cancer, HNPCC).

  12. ASR performance analysis of an experimental call routing system

    CSIR Research Space (South Africa)

    Modipa, T

    2009-11-01

    Full Text Available Call routing is an important application of Automatic Speech Recognition (ASR) technology. In this paper the authors discuss the main issues affecting the performance of a call routing system and describe the ASR component of the "Auto...

  13. Purpose, Mission, and Context: The Call for Educating Future Leaders

    Science.gov (United States)

    Chunoo, Vivechkanand; Osteen, Laura

    2016-01-01

    This chapter calls on higher education to reclaim its role in leadership education. Specifically it examines higher education's purpose, context, and mission as clarion calls to embed leadership education throughout higher education institutions and focuses on why this is important.

  14. Mutations causative of familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

    2016-01-01

    AIMS: Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic testing is not universally available. The aim of the present study was to assess the frequency and predictors of FH...... causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

  15. Minisequencing mitochondrial DNA pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Carracedo Ángel

    2008-04-01

    Full Text Available Abstract Background There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. Methods We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. Results We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain patients carrying haplogroup J lineages (Fisher's Exact test, P-value Conclusion We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.

  16. HNPCC: Six new pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Epplen Joerg T

    2004-06-01

    Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

  17. Evolution of advertisement calls in African clawed frogs.

    Science.gov (United States)

    Tobias, Martha L; Evans, Ben J; Kelley, Darcy B

    2011-01-01

    For most frogs, advertisement calls are essential for reproductive success, conveying information on species identity, male quality, sexual state and location. While the evolutionary divergence of call characters has been examined in a number of species, the relative impacts of genetic drift or natural and sexual selection remain unclear. Insights into the evolutionary trajectory of vocal signals can be gained by examining how advertisement calls vary in a phylogenetic context. Evolution by genetic drift would be supported if more closely related species express more similar songs. Conversely, a poor correlation between evolutionary history and song expression would suggest evolution shaped by natural or sexual selection. Here, we measure seven song characters in 20 described and two undescribed species of African clawed frogs (genera Xenopus and Silurana ) and four populations of X. laevis . We identify three call types - click, burst and trill - that can be distinguished by click number, call rate and intensity modulation. A fourth type is biphasic, consisting of two of the above. Call types vary in complexity from the simplest, a click, to the most complex, a biphasic call. Maximum parsimony analysis of variation in call type suggests that the ancestral type was of intermediate complexity. Each call type evolved independently more than once and call type is typically not shared by closely related species. These results indicate that call type is homoplasious and has low phylogenetic signal. We conclude that the evolution of call type is not due to genetic drift, but is under selective pressure.

  18. Linguistics, Procedure and Technique in CALL Teacher Education

    Science.gov (United States)

    Torsani, Simone

    2015-01-01

    Research in CALL education has identified a series of goals and constraints for technology in language education that need to be taken into account when designing a CALL syllabus. This article presents a theoretical framework for syllabus design based on the identification of three areas of expertise within CALL: linguistic knowledge, procedural…

  19. Alarm calls of Bronze Mannikins communicate predator size to ...

    African Journals Online (AJOL)

    These groups were exposed to latex terrestrial snakes and mounted aerial raptors, and their alarm calls and predator response behaviours recorded. The Bronze Mannikins were able to discriminate between predators of different sizes, and increased their calling rate and decreased the end frequency of the alarm call in ...

  20. 47 CFR 74.791 - Digital call signs.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 4 2010-10-01 2010-10-01 false Digital call signs. 74.791 Section 74.791..., AUXILIARY, SPECIAL BROADCAST AND OTHER PROGRAM DISTRIBUTIONAL SERVICES Low Power TV, TV Translator, and TV Booster Stations § 74.791 Digital call signs. (a) Digital low power stations. Call signs for digital low...

  1. Evolution of advertisement calls in African clawed frogs

    Science.gov (United States)

    Tobias, Martha L.; Evans, Ben J.; Kelley, Darcy B.

    2014-01-01

    Summary For most frogs, advertisement calls are essential for reproductive success, conveying information on species identity, male quality, sexual state and location. While the evolutionary divergence of call characters has been examined in a number of species, the relative impacts of genetic drift or natural and sexual selection remain unclear. Insights into the evolutionary trajectory of vocal signals can be gained by examining how advertisement calls vary in a phylogenetic context. Evolution by genetic drift would be supported if more closely related species express more similar songs. Conversely, a poor correlation between evolutionary history and song expression would suggest evolution shaped by natural or sexual selection. Here, we measure seven song characters in 20 described and two undescribed species of African clawed frogs (genera Xenopus and Silurana) and four populations of X. laevis. We identify three call types — click, burst and trill — that can be distinguished by click number, call rate and intensity modulation. A fourth type is biphasic, consisting of two of the above. Call types vary in complexity from the simplest, a click, to the most complex, a biphasic call. Maximum parsimony analysis of variation in call type suggests that the ancestral type was of intermediate complexity. Each call type evolved independently more than once and call type is typically not shared by closely related species. These results indicate that call type is homoplasious and has low phylogenetic signal. We conclude that the evolution of call type is not due to genetic drift, but is under selective pressure. PMID:24723737

  2. The Role of Analyst Conference Calls in Capital Markets

    NARCIS (Netherlands)

    E.M. Roelofsen (Erik)

    2010-01-01

    textabstractMany firms conduct a conference call with analysts shortly after the quarterly earnings announcement. In these calls, management discusses the completed quarter, and analysts can ask questions. Due to SEC requirements, conference calls in the United States are virtually always live

  3. Design considerations for CALL based upon evaluation criteria for ...

    African Journals Online (AJOL)

    This article presents a rubric for the evaluation of Computer-Assisted Language Learning (CALL) software based on international recommendations for effective CALL. After a brief overview of the pedagogical and implementation fundamentals of CALL, and a discussion of what should be included in a needs analysis for ...

  4. Power-law scaling of calling dynamics in zebra finches.

    Science.gov (United States)

    Ma, Shouwen; Maat, Andries Ter; Gahr, Manfred

    2017-08-21

    Social mammals and birds have a rich repertoire of communication calls. Some call types are uttered rarely but in specific contexts while others are produced in large numbers but are not linked to a specific context. An example for the latter is the "stack" call that zebra finches (Taeniopygia guttata) utter thousands of times per day in a seemingly erratic manner. We quantified this calling activity of captive zebra finches by using on-bird telemetric microphones that permitted a precise temporal resolution. We separated the calling interactions into the reactive and the self-contained calls. Despite a large dynamic range in the succession of calling events, the temporal distribution of the reactive and the self-contained callings was characterized by a power-law with exponents ranging between 2 and 3, which implies that all calls in that scale have similar dynamic patterns. As birds underwent physiological (water availability) and social (separation from the reproductive partner) changes, their calling dynamics changed. Power-law scaling provided an accurate description of these changes, such that the calling dynamics may inform about an individual's physiological and/or social situations state, even though a single "stack" call has no predetermined meaning.

  5. CALL and the Responsibilities of Teachers and Administrators.

    Science.gov (United States)

    Jones, Jeremy F.

    2001-01-01

    Probes reasons why many teachers remain uncommitted to computer-assisted language learning (CALL) and proposes some remedies. In particular, it is argued that CALL should not be too closely associated with self-access or autonomy, and that teachers are needed to drive the CALL process. (Author/VWL)

  6. 46 CFR 169.750 - Radio call sign.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 7 2010-10-01 2010-10-01 false Radio call sign. 169.750 Section 169.750 Shipping COAST... Control, Miscellaneous Systems, and Equipment Markings § 169.750 Radio call sign. Each vessel certificated for exposed or partially protected water service must have its radio call sign permanently displayed...

  7. Short communications: Calls of three species of arthroleptid frogs ...

    African Journals Online (AJOL)

    We also provide numerical information about the spectral and temporal features of the calls. The calls are compared with previously published descriptions from other parts of their distribution. A new call type is described for Leptodactylodon albiventris. Key words: Amphibia, Arthroleptidae, audiospectrograms.

  8. Design considerations for CALL based upon evaluation criteria for ...

    African Journals Online (AJOL)

    ... be included in a needs analysis for CALL evaluation, the rubric is presented. The author then illustrates how the evaluation criteria in the rubric can be used in the design of a new CALL system. Keywords: Software evaluation, CALL, language laboratory, MarkWrite, writing across the curriculum, software development ...

  9. Radiation mutation breeding

    Energy Technology Data Exchange (ETDEWEB)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected.

  10. Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing.

    Directory of Open Access Journals (Sweden)

    Kazuko Sakai

    Full Text Available Somatic mutations in KRAS, NRAS, and BRAF genes are related to resistance to anti-EGFR antibodies in colorectal cancer. We have established an extended RAS and BRAF mutation assay using a next-generation sequencer to analyze these mutations. Multiplexed deep sequencing was performed to detect somatic mutations within KRAS, NRAS, and BRAF, including minor mutated components. We first validated the technical performance of the multiplexed deep sequencing using 10 normal DNA and 20 formalin-fixed, paraffin-embedded (FFPE tumor samples. To demonstrate the potential clinical utility of our assay, we profiled 100 FFPE tumor samples and 15 plasma samples obtained from colorectal cancer patients. We used a variant calling approach based on a Poisson distribution. The distribution of the mutation-positive population was hypothesized to follow a Poisson distribution, and a mutation-positive status was defined as a value greater than the significance level of the error rate (α = 2 x 10(-5. The cut-off value was determined to be the average error rate plus 7 standard deviations. Mutation analysis of 100 clinical FFPE tumor specimens was performed without any invalid cases. Mutations were detected at a frequency of 59% (59/100. KRAS mutation concordance between this assay and Scorpion-ARMS was 92% (92/100. DNA obtained from 15 plasma samples was also analyzed. KRAS and BRAF mutations were identified in both the plasma and tissue samples of 6 patients. The genetic screening assay using next-generation sequencer was validated for the detection of clinically relevant RAS and BRAF mutations using FFPE and liquid samples.

  11. The So-Called 'Face on Mars'

    Science.gov (United States)

    2002-01-01

    (Released 13 April 2002) The Science The so called 'Face on Mars' can be seen slightly above center and to the right in this THEMIS visible image. This 3-km long knob, located near 10o N, 40o W (320o E), was first imaged by the Viking spacecraft in the 1970's and was seen by some to resemble a face carved into the rocks of Mars. Since that time the Mars Orbiter Camera on the Mars Global Surveyor spacecraft has provided detailed views of this hill that clearly show that it is a normal geologic feature with slopes and ridges carved by eons of wind and downslope motion due to gravity. A similar-size hill in Phoenix, Arizona resembles a camel lying on the ground, and Phoenicians whimsically refer to it as Camelback Mountain. Like the hills and knobs of Mars, however, Camelback Mountain was carved into its unusual shape by thousands of years of erosion. The THEMIS image provides a broad perspective of the landscape in this region, showing numerous knobs and hills that have been eroded into a remarkable array of different shapes. Many of these knobs, including the 'Face', have several flat ledges partway up the hill slopes. These ledges are made of more resistant layers of rock and are the last remnants of layers that once were continuous across this entire region. Erosion has completely removed these layers in most places, leaving behind only the small isolated hills and knobs seen today. Many of the hills and ridges in this area also show unusual deposits of material that occur preferentially on the cold, north-facing slopes. It has been suggested that these deposits were 'pasted' on the slopes, with the distinct, rounded boundary on their upslope edges being the highest remaining point of this pasted-on layer. In several locations, such as in the large knob directly south of the 'Face', these deposits occur at several different heights on the hill. This observation suggests the layer once draped the entire knob and has since been removed from all but the north

  12. Calling vs Receiving Party Pays: Market Penetration and the Importance of the Call Externality

    OpenAIRE

    Majer, Tommaso; Pistollato, Michele

    2010-01-01

    In this paper we study how the access price affects the choice of the tariff regime taken by the network operators. We show that for high values of the access price, that is taken as a parameter by the firms, networks decide to charge only the callers. Otherwise, for low values of the access charge, networks charge also the receivers. Moreover, we compare market penetration and total welfare between the two price regimes. Our model suggests that, for high values of call externality, market pe...

  13. The mutation of racism

    Directory of Open Access Journals (Sweden)

    Michel Wieviorka

    2014-11-01

    Full Text Available After the last war it would have seemed racism and antisemitism were called to disappear. But today they have come back and the history of their return can be traced back. Antisemitism would seem to have been relaunched as anticapitalism and as support in the fight for freedom of the palestinian people —or asenvy, mainly islamic, of today’s jews’ success in their settlement—. Racism on the other hand has suffered a transformation from the physical to the cultural and is activated today through discriminations launched on a planetary scale rather than coming from within the nations and is often connected with international tensions provoked by immigration. Finally racism is also taking shape in the need to rewrite the beginning and legitimations of the histories ofsuffering.

  14. Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

    Directory of Open Access Journals (Sweden)

    Bardeesy Nabeel

    2011-02-01

    Full Text Available Abstract Background The genetics of advanced biliary tract cancers (BTC, which encompass intra- and extra-hepatic cholangiocarcinomas as well as gallbladder carcinomas, are heterogeneous and remain to be fully defined. Methods To better characterize mutations in established known oncogenes and tumor suppressor genes we tested a mass spectrometric based platform to interrogate common cancer associated mutations across a panel of 77 formalin fixed paraffin embedded archived BTC cases. Results Mutations among three genes, KRAS, NRAS and PIK3CA were confirmed in this cohort. Activating mutations in PIK3CA were identified exclusively in GBC (4/32, 12.5%. KRAS mutations were identified in 3 (13% intra-hepatic cholangiocarcinomas and 1 (33% perihillar cholangiocarcinoma but were not identified in gallbladder carcinomas and extra-hepatic cholangiocarcinoma. Conclusions The presence of activating mutations in PIK3CA specifically in GBC has clinical implications in both the diagnosis of this cancer type, as well as the potential utility of targeted therapies such as PI3 kinase inhibitors.

  15. A synthetic operational account of call-by-need evaluation

    DEFF Research Database (Denmark)

    Zerny, Ian; Danvy, Olivier

    2013-01-01

    We present the first operational account of call by need that connects syntactic theory and implementation practice. Syntactic theory: the storeless operational semantics using syntax rewriting to account for demand-driven computation and for caching intermediate results. Implementational practice...... is that the theory of call by need agrees with the theory of call by name, and that the practice of call by need optimizes the practice of call by name. Our operational account takes the form of three new calculi for lazy evaluation of lambda-terms and our synthesis takes the form of three lock-step equivalences...

  16. The Barbados Emergency Ambulance Service: High Frequency of Nontransported Calls

    Directory of Open Access Journals (Sweden)

    Sherwin E. Phillips

    2012-01-01

    Full Text Available Objectives. There are no published studies on the Barbados Emergency Ambulance Service and no assessment of the calls that end in nontransported individuals. We describe reasons for the nontransport of potential clients. Methods. We used the Emergency Medical Dispatch (Medical Priority Dispatch System instrument, augmented with five local call types, to collect information on types of calls. The calls were categorised under 7 headings. Correlations between call types and response time were calculated. Results. Most calls were from the category medical (54%. Nineteen (19% percent of calls were in the non-transported category. Calls from call type Cancelled accounted for most of these and this was related to response time, while Refused service was inversely related (. Conclusions. The Barbados Ambulance Service is mostly used by people with a known illness and for trauma cases. One-fifth of calls fall into a category where the ambulance is not used often due to cancellation which is related to response time. Other factors such as the use of alternative transport are also important. Further study to identify factors that contribute to the non-transported category of calls is necessary if improvements in service quality are to be made.

  17. Individual distinctiveness in call types of wild western female gorillas.

    Directory of Open Access Journals (Sweden)

    Roberta Salmi

    Full Text Available Individually distinct vocalizations play an important role in animal communication, allowing call recipients to respond differentially based on caller identity. However, which of the many calls in a species' repertoire should have more acoustic variability and be more recognizable is less apparent. One proposed hypothesis is that calls used over long distances should be more distinct because visual cues are not available to identify the caller. An alternative hypothesis proposes that close calls should be more recognizable because of their importance in social interactions. To examine which hypothesis garners more support, the acoustic variation and individual distinctiveness of eight call types of six wild western gorilla (Gorilla gorilla females were investigated. Acoustic recordings of gorilla calls were collected at the Mondika Research Center (Republic of Congo. Acoustic variability was high in all gorilla calls. Similar high inter-individual variation and potential for identity coding (PIC was found for all call types. Discriminant function analyses confirmed that all call types were individually distinct (although for call types with lowest sample size - hum, grumble and scream - this result cannot be generalized, suggesting that neither the distance at which communication occurs nor the call social function alone can explain the evolution of identity signaling in western gorilla communication.

  18. Markov models for accumulating mutations

    CERN Document Server

    Beerenwinkel, Niko

    2007-01-01

    We introduce and analyze a waiting time model for the accumulation of genetic changes. The continuous time conjunctive Bayesian network is defined by a partially ordered set of mutations and by the rate of fixation of each mutation. The partial order encodes constraints on the order in which mutations can fixate in the population, shedding light on the mutational pathways underlying the evolutionary process. We study a censored version of the model and derive equations for an EM algorithm to perform maximum likelihood estimation of the model parameters. We also show how to select the maximum likelihood poset. The model is applied to genetic data from different cancers and from drug resistant HIV samples, indicating implications for diagnosis and treatment.

  19. In- and Out-of-the-Money Convertible Bond Calls

    DEFF Research Database (Denmark)

    Bechman, Ken; Lunde, Asger; Zebedee, Allan

    2014-01-01

    Convertible bond calls typically cause significant reactions in equity prices. The empirical research largely finds negative and positive announcement effects for the in-the-money and the out-of-the-money calls respectively. However, this research has difficulty distinguishing between the two mai...... convertible bond; and the stock market's reaction is almost immediate, which is consistent with the signaling effect.......Convertible bond calls typically cause significant reactions in equity prices. The empirical research largely finds negative and positive announcement effects for the in-the-money and the out-of-the-money calls respectively. However, this research has difficulty distinguishing between the two main......-the-money call is predominantly explained by the subsequent order imbalances; and the stock market's reaction is spread over an entire trading day, which is consistent with the price pressure effect. In contrast, the announcement effect for the out-of-the-money call is driven by the size of the called...

  20. PPARγ mutations, lipodystrophy and diabetes.

    Science.gov (United States)

    Astapova, Olga; Leff, Todd

    2014-11-01

    The focus of this review is the lipodystrophy syndrome caused by mutation in the PPARγ nuclear receptor - partial familial lipodystrophy FPLD3. To provide a broader context for how these mutations act to generate the clinical features of partial lipodystrophy we will review the basic biology of PPARγ and also survey the set PPARγ genetic variants that do not cause lipodystrophy, but are nonetheless associated with clinically related syndromes, specifically type 2 diabetes.

  1. Gene mutations in hepatocellular adenomas

    DEFF Research Database (Denmark)

    Raft, Marie B; Jørgensen, Ernö N; Vainer, Ben

    2015-01-01

    is associated with bi-allelic mutations in the TCF1 gene and morphologically has marked steatosis. β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. Inflammatory HCA is characterized by an oncogene-induced inflammation due....... This review offers an overview of the reported gene mutations associated with hepatocellular adenomas together with a discussion of the diagnostic and prognostic value....

  2. Economic evaluation of the differential benefits of home visits with telephone calls and telephone calls only in transitional discharge support.

    Science.gov (United States)

    Wong, Frances Kam Yuet; So, Ching; Chau, June; Law, Antony Kwan Pui; Tam, Stanley Ku Fu; McGhee, Sarah

    2015-01-01

    home visits and telephone calls are two often used approaches in transitional care, but their differential economic effects are unknown. to examine the differential economic benefits of home visits with telephone calls and telephone calls only in transitional discharge support. cost-effectiveness analysis conducted alongside a randomised controlled trial (RCT). patients discharged from medical units randomly assigned to control (control, N = 210), home visits with calls (home, N = 196) and calls only (call, N = 204). cost-effectiveness analyses were conducted from the societal perspective comparing monetary benefits and quality-adjusted life years (QALYs) gained. the home arm was less costly but less effective at 28 days and was dominating (less costly and more effective) at 84 days. The call arm was dominating at both 28 and 84 days. The incremental QALY for the home arm was -0.0002/0.0008 (28/84 days), and the call arm was 0.0022/0.0104 (28/84 days). When the three groups were compared, the call arm had a higher probability being cost-effective at 84 days but not at 28 days (home: 53%, call: 35% (28 days) versus home: 22%, call: 73% (84 days)) measuring against the NICE threshold of £20,000. the original RCT showed that the bundled intervention involving home visits and calls was more effective than calls only in the reduction of hospital readmissions. This study adds a cost perspective to inform policymakers that both home visits and calls only are cost-effective for transitional care support, but calls only have a higher chance of being cost-effective for a sustained period after intervention. © The Author 2014. Published by Oxford University Press on behalf of the British Geriatrics Society.

  3. Lung cancer mutations and use of targeted agents in Hispanics.

    Science.gov (United States)

    Cress, W Douglas; Chiappori, Alberto; Santiago, Pedro; Muñoz-Antonia, Teresita

    2014-01-01

    Hispanic/Latinos (H/L) are expected to grow to over 24% of the USA population by 2050 and lung cancer is the number one cause of cancer death among H/L men. Due to the information that is becoming available via genetic testing, lung cancer molecular profiling is allowing for increasing application of personalized lung cancer therapies. However, to benefit the most people, development of these therapies and genetic tests must include research on as many racial and ethnic groups as possible. The purpose of this review is to bring attention to the fact that the mutations driving lung cancer in H/Ls differ in frequency and nature relative to the non-Hispanic White (WNH) majority that dominate current databases and participate in clinical trials that test new therapies. Clinical trials using new agents targeting genetic alterations (driver mutations) in lung cancer have demonstrated significant improvements in patient outcomes (for example, gefitinib, erlotinib or crizotinib for lung adenocarcinomas harboring EGFR mutations or EML4-ALK fusions, respectively). The nature and frequencies of some lung cancer driver mutations have been shown to be considerably different among racial and ethnic groups. This is particularly true for H/Ls. For example, several reports suggest a dramatic shift in the mutation pattern from predominantly KRAS in a WNH population to predominantly EGFR in multiple H/L populations. However, these studies are limited, and the effects of racial and ethnic differences on the incidence of mutations in lung cancer remain incompletely understood. This review serves as a call to address this problem.

  4. Acoustic structures in the alarm calls of Gunnison's prairie dogs.

    Science.gov (United States)

    Slobodchikoff, C N; Placer, J

    2006-05-01

    Acoustic structures of sound in Gunnison's prairie dog alarm calls are described, showing how these acoustic structures may encode information about three different predator species (red-tailed hawk-Buteo jamaicensis; domestic dog-Canis familaris; and coyote-Canis latrans). By dividing each alarm call into 25 equal-sized partitions and using resonant frequencies within each partition, commonly occurring acoustic structures were identified as components of alarm calls for the three predators. Although most of the acoustic structures appeared in alarm calls elicited by all three predator species, the frequency of occurrence of these acoustic structures varied among the alarm calls for the different predators, suggesting that these structures encode identifying information for each of the predators. A classification analysis of alarm calls elicited by each of the three predators showed that acoustic structures could correctly classify 67% of the calls elicited by domestic dogs, 73% of the calls elicited by coyotes, and 99% of the calls elicited by red-tailed hawks. The different distributions of acoustic structures associated with alarm calls for the three predator species suggest a duality of function, one of the design elements of language listed by Hockett [in Animal Sounds and Communication, edited by W. E. Lanyon and W. N. Tavolga (American Institute of Biological Sciences, Washington, DC, 1960), pp. 392-430].

  5. [Drug resistance mutations and susceptibility phenotypes of Neisseria gonorrhoeae isolates in Russia].

    Science.gov (United States)

    Kubanov, A A; Leinsoo, A T; Chestkov, A V; Dementieva, E I; Shaskolskiy, B L; Solomka, V S; Gryadunov, D A; Deryabin, D G

    2017-01-01

    Steady growth in the degree of antimicrobial resistance in Neisseria gonorrhoeae calls for the control of the spreading of resistance mutations. Here we present the data describing drug resistance mutations, the results of antimicrobial susceptibility tests, and molecular genotypes of 128 recent N. gonorrhoeae isolates collected across 9 regions of the Russian Federation. The mutations in chromosome genes penA, ponA, rpsJ, gyrA, parC, which determine the susceptibility of N. gonorrhoeae to penicillins, tetracyclines, and fluoroquinolones were detected by multiplex amplification followed by hybridization on a hydrogel microarray. The most frequent mutation was an insertion of an aspartate at position 345 of penA gene (76.6%), whereas mutations Leu421Pro in ponA gene, Val57Met in rpsJ gene, Ser91Phe in gyrA gene, Asp95Gly in gyrA gene, and Ser87Arg in parC gene were detected in 32.8-36.7% of strains. One third of studied N. gonorrhoeae isolates harbored multiple drug resistance mutations in bacterial chromosome, resulting in the bimodal distribution of mutation profiles and related patterns of antimicrobial susceptibility. The spread of multiple resistance could be explained by the vertical transfer of the mutations resulting in the clonality of the N. gonorrhoeae population.

  6. Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits.

    Directory of Open Access Journals (Sweden)

    Snigdha Roy

    Full Text Available Fragile X syndrome (FXS is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1 gene. The gene is located on the long arm of the X chromosome and encodes fragile X mental retardation protein (FMRP. Absence of FMRP in fragile X patients as well as in Fmr1 knockout (KO mice results, among other changes, in abnormal dendritic spine formation and altered synaptic plasticity in the neocortex and hippocampus. Clinical features of FXS include cognitive impairment, anxiety, abnormal social interaction, mental retardation, motor coordination and speech articulation deficits. Mouse pups generate ultrasonic vocalizations (USVs when isolated from their mothers. Whether those social ultrasonic vocalizations are deficient in mouse models of FXS is unknown. Here we compared isolation-induced USVs generated by pups of Fmr1-KO mice with those of their wild type (WT littermates. Though the total number of calls was not significantly different between genotypes, a detailed analysis of 10 different categories of calls revealed that loss of Fmr1 expression in mice causes limited and call-type specific deficits in ultrasonic vocalization: the carrier frequency of flat calls was higher, the percentage of downward calls was lower and that the frequency range of complex calls was wider in Fmr1-KO mice compared to their WT littermates.

  7. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

    Directory of Open Access Journals (Sweden)

    William J Tapper

    Full Text Available Two megalencephaly (MEG syndromes, megalencephaly-capillary malformation (MCAP and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH, have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome sequencing of ten MEG cases identified de-novo postzygotic mutations in PIK3CA which cause MCAP and de-novo mutations in AKT and PIK3R2 which cause MPPH. Here we present findings from exome sequencing three unrelated megalencephaly patients which identified a causal PIK3CA mutation in two cases and a causal PIK3R2 mutation in the third case. However, our patient with the PIK3R2 mutation which is considered to cause MPPH has a marked bifrontal band heterotopia which is a feature of MCAP. Furthermore, one of our patients with a PIK3CA mutation lacks syndactyly/polydactyly which is a characteristic of MCAP. These findings suggest that the overlap between MCAP and MPPH may be greater than the available studies suggest. In addition, the PIK3CA mutation in one of our patients could not be detected using standard exome analysis because the mutation was observed at a low frequency consistent with somatic mosaicism. We have therefore investigated several alternative methods of exome analysis and demonstrate that alteration of the initial allele frequency spectrum (AFS, used as a prior for variant calling in samtools, had the greatest power to detect variants with low mutant allele frequencies in our 3 MEG exomes and in simulated data. We therefore recommend non-default settings of the AFS in combination with stringent quality control when searching for causal mutation(s that could have low levels of mutant reads due to post-zygotic mutation.

  8. Isolation and Genetic Analysis of Extragenic Suppressors of the Hyper-Deletion Phenotype of the Saccharomyces Cerevisiae Hpr1δ Mutation

    OpenAIRE

    Santos-Rosa, H.; Aguilera, A.

    1995-01-01

    The HPR1 gene of Saccharomyces cerevisae is involved in maintaining low levels of deletions between DNA repeats. To understand how deletions initiate in the absence of the Hpr1 protein and the mechanisms of recombination leading to deletions in S. cerevisiae, we have isolated mutations as suppressors of the hyper-deletion phenotype of the hpr1δ mutation. The mutations defined five different genes called HRS for hyper-recombination suppression. They suppress the hyper-deletion phenotype of hpr...

  9. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

    Science.gov (United States)

    Bockenhauer, Detlef; Feather, Sally; Stanescu, Horia C; Bandulik, Sascha; Zdebik, Anselm A; Reichold, Markus; Tobin, Jonathan; Lieberer, Evelyn; Sterner, Christina; Landoure, Guida; Arora, Ruchi; Sirimanna, Tony; Thompson, Dorothy; Cross, J Helen; van't Hoff, William; Al Masri, Omar; Tullus, Kjell; Yeung, Stella; Anikster, Yair; Klootwijk, Enriko; Hubank, Mike; Dillon, Michael J; Heitzmann, Dirk; Arcos-Burgos, Mauricio; Knepper, Mark A; Dobbie, Angus; Gahl, William A; Warth, Richard; Sheridan, Eamonn; Kleta, Robert

    2009-05-07

    Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy). Whole-genome linkage analysis was performed in the four affected children in one of the families. Newly identified mutations in a potassium-channel gene were evaluated with the use of a heterologous expression system. Protein expression and function were further investigated in genetically modified mice. Linkage analysis identified a single significant locus on chromosome 1q23.2 with a lod score of 4.98. This region contained the KCNJ10 gene, which encodes a potassium channel expressed in the brain, inner ear, and kidney. Sequencing of this candidate gene revealed homozygous missense mutations in affected persons in both families. These mutations, when expressed heterologously in xenopus oocytes, caused significant and specific decreases in potassium currents. Mice with Kcnj10 deletions became dehydrated, with definitive evidence of renal salt wasting. Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. Our findings indicate that KCNJ10 plays a major role in renal salt handling and, hence, possibly also in blood-pressure maintenance and its regulation. 2009 Massachusetts Medical Society

  10. HFE mutations in the elderly.

    Science.gov (United States)

    Willis, Gavin; Wimperis, Jennie Z; Smith, Katy; Fellows, Ian W; Jennings, Barbara A

    2003-01-01

    Most individuals diagnosed with hereditary hemochromatosis have mutations in both copies of the HFE gene, with such mutations being common in populations of north European origin. The number of individuals currently diagnosed and treated for hemochromatosis is small relative to the number carrying two HFE mutations. Studies searching for undiagnosed hemochromatosis cases among disease cohorts have generally failed to find the number of cases that would be expected if disease were the commonest outcome for individuals with two C282Y HFE mutations. Our aim was to test the hypothesis that individuals with two HFE mutations would be under-represented in an elderly population because many would have died from disease caused by hemochromatosis before they reached old age. This is a cross-sectional study of elderly patients referred for full blood counts at the Norfolk and Norwich University Hospital. We screened blood samples from 1,000 elderly men (aged 85 and over) and women (aged 89 and over) for the C282Y, H63D, and S65C mutations of the HFE gene. We also analyzed any recent laboratory data relevant to signs of hemochromatosis. None of the ten possible genotypes was significantly under- or over-represented compared to the expected frequency calculated from the Hardy-Weinberg equation. Four C282Y homozygotes were found. There were few significant differences in the laboratory findings between the genotypes. Our data suggest that most people with HFE mutations survive to old age and do not suffer from signs of iron overload and hemochromatosis.

  11. Reducing juvenile delinquency with automated cell phone calls.

    Science.gov (United States)

    Burraston, Bert O; Bahr, Stephen J; Cherrington, David J

    2014-05-01

    Using a sample of 70 juvenile probationers (39 treatment and 31 controls), we evaluated the effectiveness of a rehabilitation program that combined cognitive-behavioral training and automated phone calls. The cognitive-behavioral training contained six 90-min sessions, one per week, and the phone calls occurred twice per day for the year following treatment. Recidivism was measured by whether they were rearrested and the total number of rearrests during the 1st year. To test the impact of the phone calls, those who received phone calls were divided into high and low groups depending on whether they answered more or less than half of their phone calls. Those who completed the class and answered at least half of their phone calls were less likely to have been arrested and had fewer total arrests.

  12. Modeling synchronized calling behavior of Japanese tree frogs

    Science.gov (United States)

    Aihara, Ikkyu

    2009-07-01

    We experimentally observed synchronized calling behavior of male Japanese tree frogs Hyla japonica; namely, while isolated single frogs called nearly periodically, a pair of interacting frogs called synchronously almost in antiphase or inphase. In this study, we propose two types of phase-oscillator models on different degrees of approximations, which can quantitatively explain the phase and frequency properties in the experiment. Moreover, it should be noted that, although the second model is obtained by fitting to the experimental data of the two synchronized states, the model can also explain the transitory dynamics in the interactive calling behavior, namely, the shift from a transient inphase state to a stable antiphase state. We also discuss the biological relevance of the estimated parameter values to calling behavior of Japanese tree frogs and the possible biological meanings of the synchronized calling behavior.

  13. naiveBayesCall: an efficient model-based base-calling algorithm for high-throughput sequencing.

    Science.gov (United States)

    Kao, Wei-Chun; Song, Yun S

    2011-03-01

    Immense amounts of raw instrument data (i.e., images of fluorescence) are currently being generated using ultra high-throughput sequencing platforms. An important computational challenge associated with this rapid advancement is to develop efficient algorithms that can extract accurate sequence information from raw data. To address this challenge, we recently introduced a novel model-based base-calling algorithm that is fully parametric and has several advantages over previously proposed methods. Our original algorithm, called BayesCall, significantly reduced the error rate, particularly in the later cycles of a sequencing run, and also produced useful base-specific quality scores with a high discrimination ability. Unfortunately, however, BayesCall is too computationally expensive to be of broad practical use. In this article, we build on our previous model-based approach to devise an efficient base-calling algorithm that is orders of magnitude faster than BayesCall, while still maintaining a comparably high level of accuracy. Our new algorithm is called naive-BayesCall, and it utilizes approximation and optimization methods to achieve scalability. We describe the performance of naiveBayesCall and demonstrate how improved base-calling accuracy may facilitate de novo assembly and SNP detection when the sequence coverage depth is low to moderate.

  14. The Influence of Judgment Calls on Meta-Analytic Findings.

    Science.gov (United States)

    Tarrahi, Farid; Eisend, Martin

    2016-01-01

    Previous research has suggested that judgment calls (i.e., methodological choices made in the process of conducting a meta-analysis) have a strong influence on meta-analytic findings and question their robustness. However, prior research applies case study comparison or reanalysis of a few meta-analyses with a focus on a few selected judgment calls. These studies neglect the fact that different judgment calls are related to each other and simultaneously influence the outcomes of a meta-analysis, and that meta-analytic findings can vary due to non-judgment call differences between meta-analyses (e.g., variations of effects over time). The current study analyzes the influence of 13 judgment calls in 176 meta-analyses in marketing research by applying a multivariate, multilevel meta-meta-analysis. The analysis considers simultaneous influences from different judgment calls on meta-analytic effect sizes and controls for alternative explanations based on non-judgment call differences between meta-analyses. The findings suggest that judgment calls have only a minor influence on meta-analytic findings, whereas non-judgment call differences between meta-analyses are more likely to explain differences in meta-analytic findings. The findings support the robustness of meta-analytic results and conclusions.

  15. Expression of Emotional Arousal in Two Different Piglet Call Types.

    Science.gov (United States)

    Linhart, Pavel; Ratcliffe, Victoria F; Reby, David; Špinka, Marek

    2015-01-01

    Humans as well as many animal species reveal their emotional state in their voice. Vocal features show strikingly similar correlation patterns with emotional states across mammalian species, suggesting that the vocal expression of emotion follows highly conserved signalling rules. To fully understand the principles of emotional signalling in mammals it is, however, necessary to also account for any inconsistencies in the way that they are acoustically encoded. Here we investigate whether the expression of emotions differs between call types produced by the same species. We compare the acoustic structure of two common piglet calls-the scream (a distress call) and the grunt (a contact call)-across three levels of arousal in a negative situation. We find that while the central frequency of calls increases with arousal in both call types, the amplitude and tonal quality (harmonic-to-noise ratio) show contrasting patterns: as arousal increased, the intensity also increased in screams, but not in grunts, while the harmonicity increased in screams but decreased in grunts. Our results suggest that the expression of arousal depends on the function and acoustic specificity of the call type. The fact that more vocal features varied with arousal in scream calls than in grunts is consistent with the idea that distress calls have evolved to convey information about emotional arousal.

  16. Expression of Emotional Arousal in Two Different Piglet Call Types.

    Directory of Open Access Journals (Sweden)

    Pavel Linhart

    Full Text Available Humans as well as many animal species reveal their emotional state in their voice. Vocal features show strikingly similar correlation patterns with emotional states across mammalian species, suggesting that the vocal expression of emotion follows highly conserved signalling rules. To fully understand the principles of emotional signalling in mammals it is, however, necessary to also account for any inconsistencies in the way that they are acoustically encoded. Here we investigate whether the expression of emotions differs between call types produced by the same species. We compare the acoustic structure of two common piglet calls-the scream (a distress call and the grunt (a contact call-across three levels of arousal in a negative situation. We find that while the central frequency of calls increases with arousal in both call types, the amplitude and tonal quality (harmonic-to-noise ratio show contrasting patterns: as arousal increased, the intensity also increased in screams, but not in grunts, while the harmonicity increased in screams but decreased in grunts. Our results suggest that the expression of arousal depends on the function and acoustic specificity of the call type. The fact that more vocal features varied with arousal in scream calls than in grunts is consistent with the idea that distress calls have evolved to convey information about emotional arousal.

  17. Point mutations associated with HIV-1 drug resistance, evasion of the immune response and AIDS pathogenesis

    CSIR Research Space (South Africa)

    Khati, M

    2012-03-01

    Full Text Available , collectively called acquired immune deficiency syndrome (AIDS) pathogenesis. This chapter presents an up-to-date critical review of the literature and provides a synthesis of the current understanding of HIV-1 point mutations in relation to drug resistance...

  18. Common Β- Thalassaemia Mutations in

    Directory of Open Access Journals (Sweden)

    P Azarfam

    2005-01-01

    Full Text Available Introduction: β –Thalassaemia was first explained by Thomas Cooly as Cooly’s anaemia in 1925. The β- thalassaemias are hereditary autosomal disorders with decreased or absent β-globin chain synthesis. The most common genetic defects in β-thalassaemias are caused by point mutations, micro deletions or insertions within the β-globin gene. Material and Methods: In this research , 142 blood samples (64 from childrens hospital of Tabriz , 15 samples from Shahid Gazi hospital of Tabriz , 18 from Urumia and 45 samples from Aliasghar hospital of Ardebil were taken from thalassaemic patients (who were previously diagnosed .Then 117 non-familial samples were selected . The DNA of the lymphocytes of blood samples was extracted by boiling and Proteinase K- SDS procedure, and mutations were detected by ARMS-PCR methods. Results: From the results obtained, eleven most common mutations,most of which were Mediterranean mutations were detected as follows; IVS-I-110(G-A, IVS-I-1(G-A ،IVS-I-5(G-C ,Frameshift Codon 44 (-C,( codon5(-CT,IVS-1-6(T-C, IVS-I-25(-25bp del ,Frameshift 8.9 (+G ,IVS-II-1(G-A ,Codon 39(C-T, Codon 30(G-C the mutations of the samples were defined. The results showed that Frameshift 8.9 (+G, IVS-I-110 (G-A ,IVS-II-I(G-A, IVS-I-5(G-C, IVS-I-1(G-A , Frameshift Codon 44(-C , codon5(-CT , IVS-1-6(T-C , IVS-I-25(-25bp del with a frequency of 29.9%, 25.47%,17.83%, 7.00%, 6.36% , 6.63% , 3.8% , 2.5% , 0.63% represented the most common mutations in North - west Iran. No mutations in Codon 39(C-T and Codon 30(G-C were detected. Cunclusion: The frequency of the same mutations in patients from North - West of Iran seems to be different as compared to other regions like Turkey, Pakistan, Lebanon and Fars province of Iran. The pattern of mutations in this region is more or less the same as in the Mediterranean region, but different from South west Asia and East Asia.

  19. Capacity of DNA Data Embedding Under Substitution Mutations

    CERN Document Server

    Balado, Félix

    2011-01-01

    A number of methods have been proposed over the last decade for encoding information using deoxyribonucleic acid (DNA), giving rise to the emerging area of DNA data embedding. Since a DNA sequence is conceptually equivalent to a sequence of quaternary symbols (bases), DNA data embedding (diversely called DNA watermarking or DNA steganography) can be seen as a digital communications problem where channel errors are tantamount to mutations of DNA bases. Depending on the use of coding or noncoding DNA hosts, which, respectively, denote DNA segments that can or cannot be translated into proteins, DNA data embedding is essentially a problem of communications with or without side information at the encoder. In this paper the Shannon capacity of DNA data embedding is obtained for the case in which DNA sequences are subject to substitution mutations modelled using the Kimura model from molecular evolution studies. Inferences are also drawn with respect to the biological implications of some of the results presented.

  20. SQSTM1 Mutations and Glaucoma.

    Directory of Open Access Journals (Sweden)

    Todd E Scheetz

    Full Text Available Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN and TANK binding kinase 1 (TBK1, cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1 gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308 and matched controls (n = 157 using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05. These data suggest that SQSTM1 mutations are not a common cause of NTG.

  1. Professional learning needs in using video calls identified through workshops.

    Science.gov (United States)

    Statton, Sarah; Jones, Ray; Thomas, Martin; North, Tracie; Endacott, Ruth; Frost, Adrian; Tighe, Dazzle; Wilson, Gail

    2016-05-10

    Most people want to die at home but only half do. Supporting patients in rural locations is challenging. Video calls such as Skype, might help but are not routinely used; we should consider learning needs to increase uptake and ensure effective use. We aimed to identify learning needs of healthcare professionals (HCPs) in using video calls to support patients (and their carers) to die at home. Face-to-face workshops were held in five Southwest England locations. Participants discussed advantages, disadvantages, scenarios for use, and the learning needs of video call users. Ideas were documented on flipcharts and discussions audio-recorded. The 116 participants included nurses, allied HCPs, doctors and previously bereaved volunteers. Lists of advantages, disadvantages, scenarios and learning needs were compiled and circulated to participants. In a subsequent online workshop, 21 participants ranked seven groups of learning needs in priority order. Most participants thought video calls could be used to advantage in many end-of-life scenarios, especially in rural areas. Seven themes, covering 59 learning needs for HCPs, were identified (in priority order): (i) confidence and technical ability in using video calls; (ii) being aware of how video calls fit into clinical practice; (iii) managing video calls; (iv) communication skills on 'camera'; (v) understanding how patients and families may be affected by video call use; (vi) presenting video calls as an option to patients and families to assess their readiness; (vii) normal professional skills that become essential for effective video calls. Although almost ubiquitous, video call software is not routinely and effectively used in British clinical practice. Supporting patients and families at end-of-life is one example where it could be used to advantage, but clinicians need to plan and practise before using it in real situations. Learning needs were identified that could be developed into learning modules and/or courses.

  2. Call Centres in Denmark 2004 - Strategy, HR Practices & Performance

    DEFF Research Database (Denmark)

    Sørensen, Ole H.; El-Salanti, Nadia

    This survey is the first scientifically based benchmarking study of the Danish call centre industry. The main results from the study are based on answers from 128 call centres, which correspond to a response rate of 65%. The Danish study is part of a global project coordinated by researchers...

  3. Implications of Research on Human Memory for CALL Design.

    Science.gov (United States)

    Forester, Lee

    2002-01-01

    Offers a brief overview of what is generally accepted about how human memory works as it applied to computer assisted language learning (CALL). Discusses a number of interactions from various CALL products in light of the research summarized. (Author/VWL)

  4. Calls to Teen Line: Representative Concerns of Adolescents.

    Science.gov (United States)

    Boehm, Kathryn E.; Schondel, Connie K.; Ivoska, William J.; Marlowe, Alison L.; Manke-Mitchell, Laurie

    1998-01-01

    Study examines whether the concerns of teenagers calling a peer listening service are representative of the concerns of teenagers in the area served. Results indicate that students' biggest concerns involve family problems, peer relationships, self-esteem, and school problems. Concludes that calls to the teen line are representative. (Author/GCP)

  5. Calling songs of some South African cicadas (Homoptera: Cicadidae)

    African Journals Online (AJOL)

    1987-07-13

    Jul 13, 1987 ... The spectral and temporal characters of the calls of 12 species of cicada are illustrated and described. Variation within populations of conspecifics appears to be greater in temporal than in spectral properties. Conspecific calls recorded at widely separated localities have essentially the sarne characteristics.

  6. Called to Do Meaningful Work: A Blessing or a Curse?

    Science.gov (United States)

    van Vuuren, Mark

    2017-01-01

    Two groups of people are particularly inclined to mention a calling when talking about their work motivation: those who are spiritual (because the concept of calling originated in the religious realm) and those in serving occupations (such as hospitals, schools, and nongovernmental organizations). Because Christian professors are in both groups,…

  7. 47 CFR 25.284 - Emergency Call Center Service.

    Science.gov (United States)

    2010-10-01

    ... mobile satellite service to end-user customers (part 25, subparts A-D) must provide Emergency Call Center... Emergency Call Center service for such terminals. (b) Beginning February 11, 2005, each mobile satellite... following October 15, mobile satellite service carriers providing service in the 1.6/2.4 GHz and 2 GHz bands...

  8. Advertisement calls of Bolivian species of Scinax (Amphibia, Anura, Hylidae)

    NARCIS (Netherlands)

    Riva, de la Ignacio; Márquez, Rafael; Bosch, Jaime

    1994-01-01

    The advertisement calls of eight Bolivian species of Scinax are described including information on the calling behaviour of each species. A characteristic audiospectrogram and oscillogram are presented for each species, as well as numerical information about the spectral and temporal features of the

  9. The advertisement call, breeding biology, description of the tadpole ...

    African Journals Online (AJOL)

    Males of Bufo dombensis were observed calling late at night at Ongongo Waterfall in north-western Namibia. The analyzed advertisement calls differ distinctly from those of B. vertebralis, B. hoeschi and B. fenoulheti, indicating that all these taxa are separate valid species. Tadpoles raised from a breeding pair found at ...

  10. Advertisement call and tadpole morphology of the clutch-guarding ...

    African Journals Online (AJOL)

    We provide the first descriptions of the tadpole and advertisement call of Mantidactylus argenteus. Calls consist of 6–15 short and rather melodious notes, with a dominant frequency at 4100–4400 Hz and are emitted from arboreal positions during the day. The larva is an Orton type IV tadpole, with oval body shape and ...

  11. Phylogenetic relationships and call structure in four African bufonid ...

    African Journals Online (AJOL)

    Phylogenetic relationships and call structure in four African bufonid species. ... The evolution of advertisement call structure in these species is discussed in relation to this phylogeny. ... The phylogeny derived from allozyme data agrees with evidence on albumin immunological distance, karyotype and morphology.

  12. Dialogue Management for an Automated Multilingual Call Center

    Science.gov (United States)

    2003-01-01

    centers, but do so in a manner that is maximally responsive to the customer . This practically eliminates all prompt or menu based voice response systems...a customer call: identifying the customer (based on a sample customer database) and determining the reason the customer is calling (based on a subset

  13. How can I help you? User instructions in telephone calls

    NARCIS (Netherlands)

    Steehouder, M.F.; Hartman, Daniel

    2003-01-01

    We a small corpus of instructions given in phone calls to customers who need support for programming their universal remote control, to make it suitable for their particular TV set VCR, Audio, etc. Typically, in these calls the operator or 'agent' coaches the client while the client is performing

  14. A SIMULATION MODEL FOR EMERGENCY MEDICAL SERVICES CALL CENTERS

    NARCIS (Netherlands)

    M. van Buuren (Martin); G.J. Kommer (Geert Jan); R.D. van der Mei (Rob); S. Bhulai (Sandjai); L. Yilmaz; W.K.V. Chan; I. Moon; T.M.K. Roeder; C. Macal; M.D. Rosetti

    2015-01-01

    htmlabstractIn pre-hospital health care the call center plays an important role in the coordination of emergency medical services (EMS). An EMS call center handles inbound requests for EMS and dispatches an ambulance if necessary. The time needed for triage and dispatch is part of the total response

  15. A simulation model for emergency medical services call centers

    NARCIS (Netherlands)

    van Buuren, M.; Kommer, G.J.; van der Mei, R.D.; Bhulai, S.

    2015-01-01

    In pre-hospital health care the call center plays an important role in the coordination of emergency medical services (EMS). An EMS call center handles inbound requests for EMS and dispatches an ambulance if necessary. The time needed for triage and dispatch is part of the total response time to the

  16. Sustainability in CALL Learning Environments: A Systemic Functional Grammar Approach

    Science.gov (United States)

    McDonald, Peter

    2014-01-01

    This research aims to define a sustainable resource in Computer-Assisted Language Learning (CALL). In order for a CALL resource to be sustainable it must work within existing educational curricula. This feature is a necessary prerequisite of sustainability because, despite the potential for educational change that digitalization has offered since…

  17. AI in CALL--Artificially Inflated or Almost Imminent?

    Science.gov (United States)

    Schulze, Mathias

    2008-01-01

    The application of techniques from artificial intelligence (AI) to CALL has commonly been referred to as intelligent CALL (ICALL). ICALL is only slightly older than the "CALICO Journal", and this paper looks back at a quarter century of published research mainly in North America and by North American scholars. This "inventory…

  18. Environmental constraints and call evolution in torrent-dwelling frogs.

    Science.gov (United States)

    Goutte, Sandra; Dubois, Alain; Howard, Samuel D; Marquez, Rafael; Rowley, Jodi J L; Dehling, J Maximilian; Grandcolas, Philippe; Rongchuan, Xiong; Legendre, Frédéric

    2016-04-01

    Although acoustic signals are important for communication in many taxa, signal propagation is affected by environmental properties. Strong environmental constraints should drive call evolution, favoring signals with greater transmission distance and content integrity in a given calling habitat. Yet, few empirical studies have verified this prediction, possibly due to a shortcoming in habitat characterization, which is often too broad. Here we assess the potential impact of environmental constraints on the evolution of advertisement call in four groups of torrent-dwelling frogs in the family Ranidae. We reconstruct the evolution of calling site preferences, both broadly categorized and at a finer scale, onto a phylogenetic tree for 148 species with five markers (∼3600 bp). We test models of evolution for six call traits for 79 species with regard to the reconstructed history of calling site preferences and estimate their ancestral states. We find that in spite of existing morphological constraints, vocalizations of torrent-dwelling species are most probably constrained by the acoustic specificities of torrent habitats and particularly their high level of ambient noise. We also show that a fine-scale characterization of calling sites allows a better perception of the impact of environmental constraints on call evolution. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  19. A simulation model for emergency medical services call centers

    NARCIS (Netherlands)

    M. van Buuren (Martin); G.J. Kommer (Geert Jan); R.D. van der Mei (Rob); S. Bhulai (Sandjai)

    2015-01-01

    htmlabstractIn pre-hospital health care the call center plays an important role in the coordination of emergency medical services (EMS). An EMS call center handles inbound requests for EMS and dispatches an ambulance if necessary. The time needed for triage and dispatch is part of the total response

  20. Steven MacCall: Winner of LJ's 2010 Teaching Award

    Science.gov (United States)

    Berry, John N., III

    2010-01-01

    This article profiles Steven L. MacCall, winner of "Library Journal's" 2010 Teaching Award. An associate professor at the School of Library and Information Studies (SLIS) at the University of Alabama, Tuscaloosa, MacCall was nominated by Kathie Popadin, known as "Kpop" to the members of her cohort in the online MLIS program at SLIS. Sixteen of…

  1. 76 FR 43688 - Committee Meeting via Conference Call

    Science.gov (United States)

    2011-07-21

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Administration for Children and Families Committee Meeting via Conference Call AGENCY..., August 16, 2011, from 1 p.m. to 2:30 pm E.S.T. This meeting, to be held via audio conference call, is...

  2. 78 FR 67956 - Rates for Interstate Inmate Calling Services

    Science.gov (United States)

    2013-11-13

    ... children by facilitating contact with their parents. By reducing interstate inmate phone rates, we will... COMMISSION 47 CFR Part 64 Rates for Interstate Inmate Calling Services AGENCY: Federal Communications...) adopts rule changes to bring high interstate inmate calling service (ICS) rates into compliance with the...

  3. Called to do meaningful work : A blessing or a curse?

    NARCIS (Netherlands)

    van Vuuren, Hubrecht A.

    2017-01-01

    Two groups of people are particularly inclined to mention a calling when talking about their work motivation: those who are spiritual (because the concept of calling originated in the religious realm) and those in serving occupations (such as hospitals, schools, and nongovernmental organizations).

  4. Semantics-directed implementation of method-call interception

    NARCIS (Netherlands)

    R. Lämmel (Ralf); C. Stenzel

    2003-01-01

    textabstractWe describe a form of method-call interception (MCI) that allows the programmer to superimpose extra functionality onto method calls at run-time. We provide a reference semantics and a reference implementation for corresponding language constructs. The setup applies to class-based,

  5. Impact of Using CALL on Iranian EFL Learners' Vocabulary Knowledge

    Science.gov (United States)

    Yunus, Melor Md; Salehi, Hadi; Amini, Mahdi

    2016-01-01

    Computer Assisted Language Learning (CALL) integration in EFL contexts has intensified noticeably in recent years. This integration might be in different ways and for different purposes such as vocabulary acquisition, grammar learning, phonology, writing skills, etc. More explicitly, this study is an attempt to explore the effect of using CALL on…

  6. Prompting in CALL: A Longitudinal Study of Learner Uptake

    Science.gov (United States)

    Heift, Trude

    2010-01-01

    This research presents a longitudinal study of learner uptake in a computer-assisted language learning (CALL) environment. Over the course of 3 semesters, 10 second language learners of German at a Canadian university used an online, parser-based CALL program that, for the purpose of this research, provided 2 different types of feedback of varying…

  7. Evaluation of Static JavaScript Call Graph Algorithms

    NARCIS (Netherlands)

    J.-J. Dijkstra (Jorryt-Jan)

    2014-01-01

    htmlabstractThis thesis consists of a replication study in which two algorithms to compute JavaScript call graphs have been implemented and evaluated. Existing IDE support for JavaScript is hampered due to the dynamic nature of the language. Previous studies partially solve call graph computation

  8. Canavan disease: a novel mutation.

    Science.gov (United States)

    Schober, Harald; Luetschg, Juerg; Hoeliner, Isabella; Kalb, Stefanie; Simma, Burkhard

    2011-10-01

    Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. Evidence That Calls-Based and Mobility Networks Are Isomorphic.

    Directory of Open Access Journals (Sweden)

    Michele Coscia

    Full Text Available Social relations involve both face-to-face interaction as well as telecommunications. We can observe the geography of phone calls and of the mobility of cell phones in space. These two phenomena can be described as networks of connections between different points in space. We use a dataset that includes billions of phone calls made in Colombia during a six-month period. We draw the two networks and find that the call-based network resembles a higher order aggregation of the mobility network and that both are isomorphic except for a higher spatial decay coefficient of the mobility network relative to the call-based network: when we discount distance effects on the call connections with the same decay observed for mobility connections, the two networks are virtually indistinguishable.

  10. Call Admission Scheme for Multidimensional Traffic Assuming Finite Handoff User

    Directory of Open Access Journals (Sweden)

    Md. Baitul Al Sadi

    2017-01-01

    Full Text Available Usually, the number of users within a cell in a mobile cellular network is considered infinite; hence, M/M/n/k model is appropriate for new originated traffic, but the number of ongoing calls around a cell is always finite. Hence, the traffic model of handoff call will be M/M/n/k/N. In this paper, a K-dimensional traffic model of a mobile cellular network is proposed using the combination of limited and unlimited users case. A new call admission scheme (CAS is proposed based on both thinning scheme and fading condition. The fading condition of the wireless channel access to a handoff call is prioritized compared to newly originated calls.

  11. Frequency synchronization of blue whale calls near Pioneer Seamount.

    Science.gov (United States)

    Hoffman, Michael D; Garfield, Newell; Bland, Roger W

    2010-07-01

    Vocalizations of blue whales were recorded with a cabled hydrophone array at Pioneer Seamount, 50 miles off the California coast. Most calls occurred in repeated sequences of two-call pairs (A, then B). The B call is a frequency-modulated tone highly repeatable in form and pitch. A model of this sound is described which permits detecting very small frequency shifts. B calls are found to be aligned in frequency to about one part in 180. This requires very fine pitch discrimination and control over calling frequency, and suggests that synchronizing to a common frequency pattern carries some adaptive advantage. Some possibilities for acoustic sensing by whales requiring this fine frequency resolution are discussed.

  12. Investigating CALL in the Classroom: Situational Variables to Consider

    Directory of Open Access Journals (Sweden)

    Darlene Liutkus

    2012-01-01

    Full Text Available A new paradigm in second language pedagogy has Computer Assisted Language Learning (CALL playing a significant role. Much of the literature to-date claims that CALL can have a positive impact on students’ second language acquisition (SLA. Mixed method of research produces data to investigate if CALL positively affects student language proficiency, motivation and autonomy. Classroom observation of participants in their natural environment is a qualitative technique used but has situational variables that could skew results if not structured. A questionnaire is a quantitative tool that can offer insight regarding participants’ perception of performance but can contradict what the researcher has observed. This paper will take an in-depth look at variables such as: instructor’s pedagogical application; blending CALL into the curriculum; types of CALL implemented; feedback received and their implications for design of the data collection tools

  13. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.

    Science.gov (United States)

    Mutarelli, Margherita; Marwah, Veer; Rispoli, Rossella; Carrella, Diego; Dharmalingam, Gopuraja; Oliva, Gennaro; di Bernardo, Diego

    2014-01-01

    Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences. Whole Exome Sequencing of patients can be a cost-effective alternative to standard genetic screenings to find causative mutations of genetic diseases, especially when the number of cases is limited. Analyzing exome sequencing data requires specific expertise, high computational resources and a reference variant database to identify pathogenic variants. We developed a database of variations collected from patients with Mendelian disorders, which is automatically populated thanks to an associated exome-sequencing pipeline. The pipeline is able to automatically identify, annotate and store insertions, deletions and mutations in the database. The resource is freely available online http://exome.tigem.it. The exome sequencing pipeline automates the analysis workflow (quality control and read trimming, mapping on reference genome, post-alignment processing, variation calling and annotation) using state-of-the-art software tools. The exome-sequencing pipeline has been designed to run on a computing cluster in order to analyse several samples simultaneously. The detected variants are annotated by the pipeline not only with the standard variant annotations (e.g. allele frequency in the general population, the predicted effect on gene product activity, etc.) but, more importantly, with allele frequencies across samples progressively collected in the database itself, stratified by Mendelian disorder. We aim at providing a resource for the genetic disease community to automatically analyse whole exome-sequencing samples with a standard and uniform analysis pipeline, thus collecting variant allele frequencies by disorder. This resource may become a valuable tool to help dissecting the genotype underlying the disease phenotype through an improved selection of putative patient-specific causative or phenotype-associated variations.

  14. [Bioacoustic of the advertisement call of Ceratophrys cranwelli (Anura: Ceratophryidae)].

    Science.gov (United States)

    Valetti, Julián Alonso; Salas, Nancy Edith; Martino, Adolfo Ludovico

    2013-03-01

    The advertisement call plays an important role in the life history of anuran amphibians, mainly during the breeding season. Call features represent an important character to discriminate species, and sound emissions are very effective to assure or reinforce genetic incompatibility, especially in the case of sibling species. Since frogs are ectotherms, acoustic properties of their calls will vary with temperature. In this study, we described the advertisement call of C. cranwelli, quantifying the temperature effect on its components. The acoustic emissions were recorded during 2007 using a DAT record Sony TCD-100 with stereo microphone ECM-MS907 Sony and tape TDK DAT-RGX 60. As males emit their calls floating in temporary ponds, water temperatures were registered after recording the advertisement calls with a digital thermometer TES 1300+/-0.1 degreeC. Altogether, 54 calls from 18 males were analyzed. The temporal variables of each advertisement call were measured using oscillograms and sonograms and the analyses of dominant frequency were performed using a spectrogram. Multiple correlation analysis was used to identify the temperature-dependent acoustic variables and the temperature effect on these variables was quantified using linear regression models. The advertisement call of C. cranwelli consists of a single pulse group. Call duration, Pulse duration and Pulse interval decreased with the temperature, whereas the Pulse rate increased with temperature. The temperature-dependent variables were standardized at 25 degreeC according to the linear regression model obtained. The acoustic variables that were correlated with the temperature are the variables which emissions depend on laryngeal muscles and the temperature constraints the contractile properties of muscles. Our results indicated that temperature explains an important fraction of the variability in some acoustic variables (79% in the Pulse rate), and demonstrated the importance of considering the effect of

  15. Leveraging management information in improving call centre productivity

    Directory of Open Access Journals (Sweden)

    Manthisana Mosese

    2016-04-01

    Full Text Available Background: The availability and efficient use of management information is one of the key strategic levers in driving growth and competitiveness for companies. Management information facilitates vital decision making that assists organisations in improving their competitiveness. For call centre operations, competitiveness entails improving productivity and customer service, and management information is essential in this endeavour.Objectives: This research explored the use of management information and its impact on two fundamental functions namely, improving productivity without compromising the quality of service, in the call centre of a well-known South African fashion retailer, Edcon. Following the implementation of the call centre technology project the research set out to determine how Edcon can transform their call centre to improve productivity and customer service through effective utilisation of their management information. Method: Internal documents and reports were analysed to provide the basis of evaluation between the measures of productivity prior to and post the implementation of a technology project at Edcon’s call centre. Semi-structured in-depth and group interviews were conducted to establish the importance and use of management information in improving productivity and customer service. Results: The results indicated that the availability of management information has indeed contributed to improved efficiency at the Edcon call centre. Although literature claims that there is a correlation between a call centre technology upgrade and improvement in performance, evident in the return on investment being realised within a year or two of implementation, it fell beyond the scope of this study to investigate the return on investment for Edcon’s call centre. Conclusion: Although Edcon has begun realising benefits in improved productivity in their call centre from their available management information, information will

  16. Analysis of the fitness effect of compensatory mutations

    OpenAIRE

    Zhang, Liqing; Watson, Layne T.

    2008-01-01

    This paper extends previous work on the Darwinian evolutionary fitness effect of the fixation of deleterious mutations by incorporating compensatory mutations, which are mutations (deleterious by themselves) that ameliorate other deleterious mutations, thus reducing the genetic load of populations. Since having compensatory mutations essentially changes the distributional shapes of deleterious mutations, the effect of compensatory mutations is studied by comparing distributions of deleterious...

  17. Contact calls of common marmosets (Callithrix jacchus): influence of age of caller on antiphonal calling and other vocal responses.

    Science.gov (United States)

    Chen, H-C; Kaplan, G; Rogers, L J

    2009-02-01

    Marmosets, as do many other primates, live in forest environments, are group living and constantly at risk of predation. Retaining contact with one another is therefore a matter of survival. We ask here whether their contact calls (phee and twitter vocalizations) are in some way ordered acoustically by sex or age and whether the calls of older marmosets elicit different responses than those of younger marmosets. In our study, marmosets (2-14 years) were visually isolated from conspecifics and the vocal responses to each isolated caller by other marmosets in the colony were recorded. Vocal responses to phee calls largely consisted of phee calls and, less commonly, twitter calls. No differences between the responses to calls by males and females were apparent. However, we found a strong positive and significant correlation between the caller's age and the percentage of its phee calls receiving a phee response, and a significant negative correlation between the caller's age and the percentage of its phee calls receiving a twitter response. The older the marmoset, the more antiphonal calling occurred. Two-syllable phee calls were emitted more often by older marmosets (10-14 years) than by younger ones (2-6 years). Hence, we have found age-dependent differences in phee-call production and a consistent change in the response received across the adult life-span. This age-dependent effect was independent of kinship relations. This is the first evidence that marmosets distinguish age by vocal parameters alone and make social decisions based on age. (c) 2008 Wiley-Liss, Inc.

  18. Domain landscapes of somatic mutations in cancer.

    Science.gov (United States)

    Nehrt, Nathan L; Peterson, Thomas A; Park, DoHwan; Kann, Maricel G

    2012-06-18

    Large-scale tumor sequencing projects are now underway to identify genetic mutations that drive tumor initiation and development. Most studies take a gene-based approach to identifying driver mutations, highlighting genes mutated in a large percentage of tumor samples as those likely to contain driver mutations. However, this gene-based approach usually does not consider the position of the mutation within the gene or the functional context the position of the mutation provides. Here we introduce a novel method for mapping mutations to distinct protein domains, not just individual genes, in which they occur, thus providing the functional context for how the mutation contributes to disease. Furthermore, aggregating mutations from all genes containing a specific protein domain enables the identification of mutations that are rare at the gene level, but that occur frequently within the specified domain. These highly mutated domains potentially reveal disruptions of protein function necessary for cancer development. We mapped somatic mutations from the protein coding regions of 100 colon adenocarcinoma tumor samples to the genes and protein domains in which they occurred, and constructed topographical maps to depict the "mutational landscapes" of gene and domain mutation frequencies. We found significant mutation frequency in a number of genes previously known to be somatically mutated in colon cancer patients including APC, TP53 and KRAS. In addition, we found significant mutation frequency within specific domains located in these genes, as well as within other domains contained in genes having low mutation frequencies. These domain "peaks" were enriched with functions important to cancer development including kinase activity, DNA binding and repair, and signal transduction. Using our method to create the domain landscapes of mutations in colon cancer, we were able to identify somatic mutations with high potential to drive cancer development. Interestingly, the

  19. Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

    Directory of Open Access Journals (Sweden)

    Claudia Scotti

    Full Text Available Activin A receptor, type II-like kinase 1 (also called ALK1, is a serine-threonine kinase predominantly expressed on endothelial cells surface. Mutations in its ACVRL1 encoding gene (12q11-14 cause type 2 Hereditary Haemorrhagic Telangiectasia (HHT2, an autosomal dominant multisystem vascular dysplasia. The study of the structural effects of mutations is crucial to understand their pathogenic mechanism. However, while an X-ray structure of ALK1 intracellular domain has recently become available (PDB ID: 3MY0, structure determination of ALK1 ectodomain (ALK1(EC has been elusive so far. We here describe the building of a homology model for ALK1(EC, followed by an extensive bioinformatic analysis, based on a set of 38 methods, of the effect of missense mutations at the sequence and structural level. ALK1(EC potential interaction mode with its ligand BMP9 was then predicted combining modelling and docking data. The calculated model of the ALK1(EC allowed mapping and a preliminary characterization of HHT2 associated mutations. Major structural changes and loss of stability of the protein were predicted for several mutations, while others were found to interfere mainly with binding to BMP9 or other interactors, like Endoglin (CD105, whose encoding ENG gene (9q34 mutations are known to cause type 1 HHT. This study gives a preliminary insight into the potential structure of ALK1(EC and into the structural effects of HHT2 associated mutations, which can be useful to predict the potential effect of each single mutation, to devise new biological experiments and to interpret the biological significance of new mutations, private mutations, or non-synonymous polymorphisms.

  20. Calling behavior of blue and fin whales off California

    Science.gov (United States)

    Oleson, Erin Marie

    Passive acoustic monitoring is an effective means for evaluating cetacean presence in remote regions and over long time periods, and may become an important component of cetacean abundance surveys. To use passive acoustic recordings for abundance estimation, an understanding of the behavioral ecology of cetacean calling is crucial. In this dissertation, I develop a better understanding of how blue (Balaenoptera musculus) and fin (B. physalus ) whales use sound with the goal of evaluating passive acoustic techniques for studying their populations. Both blue and fin whales produce several different call types, though the behavioral and environmental context of these calls have not been widely investigated. To better understand how calling is used by these whales off California I have employed both new technologies and traditional techniques, including acoustic recording tags, continuous long-term autonomous acoustic recordings, and simultaneous shipboard acoustic and visual surveys. The outcome of these investigations has led to several conclusions. The production of blue whale calls varies with sex, behavior, season, location, and time of day. Each blue whale call type has a distinct behavioral context, including a male-only bias in the production of song, a call type thought to function in reproduction, and the production of some calls by both sexes. Long-term acoustic records, when interpreted using all call types, provide a more accurate measure of the local seasonal presence of whales, and how they use the region annually, seasonally and daily. The relative occurrence of different call types may indicate prime foraging habitat and the presence of different segments of the population. The proportion of animals heard calling changes seasonally and geographically relative to the number seen, indicating the calibration of acoustic and visual surveys is complex and requires further study on the motivations behind call production and the behavior of calling whales

  1. [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

    Science.gov (United States)

    Balmaña, Judith; Nomdedéu, Josep; Díez, Orland; Sabaté, Josep Maria; Balil, Anna; Pericay, Carles; López López, Juan José; Brunet, Joan; Baiget, Montse; Alonso, Carmen

    2002-10-19

    Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, soft-tissue sarcomas and osteosarcomas, acute leukemia, adrenocortical neoplasms and central nervous system tumors. Germline mutations in gene TP53 are identified in a percentage of affected families. Eight families with aggregation of childhood sarcomas, brain tumors, breast cancers in pre-menopausal women, and renal tumors were screened for TP53 germ-line mutations. SSCP and posterior direct sequencing were performed for genetic analysis. We also report a previously undescribed family with the Li-Fraumeni syndrome carrying a germline mutation. Seven families fulfilled so-called Li-Fraumeni like criteria and one fulfilled classical criteria. A new germ-line mutation in codon 238 at exon 7 of the gene TP53 was identified in the family fulfilling classical criteria. This mutation has not been previously reported. The clinical heterogeneity as well as the molecular complexity and consequences of mutation analysis and genetic counseling make it necessary to develop protocols in this area. A multidisciplinary approach is needed; this approach should be coordinated by a Familial Cancer Genetic Counseling Unit.

  2. Inference of Tumor Phylogenies with Improved Somatic Mutation Discovery

    KAUST Repository

    Salari, Raheleh

    2013-01-01

    Next-generation sequencing technologies provide a powerful tool for studying genome evolution during progression of advanced diseases such as cancer. Although many recent studies have employed new sequencing technologies to detect mutations across multiple, genetically related tumors, current methods do not exploit available phylogenetic information to improve the accuracy of their variant calls. Here, we present a novel algorithm that uses somatic single nucleotide variations (SNVs) in multiple, related tissue samples as lineage markers for phylogenetic tree reconstruction. Our method then leverages the inferred phylogeny to improve the accuracy of SNV discovery. Experimental analyses demonstrate that our method achieves up to 32% improvement for somatic SNV calling of multiple related samples over the accuracy of GATK\\'s Unified Genotyper, the state of the art multisample SNV caller. © 2013 Springer-Verlag.

  3. THE RATE OF SPONTANEOUS MUTATION

    Indian Academy of Sciences (India)

    The Rate of Spontaneous Mutation of a Human Gene. (Published on 1935 J. Genet. 31, 317-326). J. B. S. Haldane. J. Genet. Classic Volume 83 Issue 3 December 2004 pp 235-244. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/jgen/083/03/0235-0244. Author Affiliations.

  4. Causative mutations in FKBP10

    African Journals Online (AJOL)

    Prior to the current project, contact was made with medical colleagues in other centres in SA, and they were offered molecular genetic screening for mutations in their patients with OI-3 by the. Division of Human Genetics at UCT. The clinicians caring for affected persons with OI-3 and their families submitted blood or saliva.

  5. Thalassemia mutations in Gaziantep, Turkey

    African Journals Online (AJOL)

    STORAGESEVER

    2010-02-22

    Feb 22, 2010 ... thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally ... inherited disorder of hemoglobin (Hb) synthesis in the world, with gene ..... Peykar DP, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni. KH, Rahmani M ...

  6. Isocitrate dehydrogenase mutations in gliomas

    Science.gov (United States)

    Waitkus, Matthew S.; Diplas, Bill H.; Yan, Hai

    2016-01-01

    Over the last decade, extraordinary progress has been made in elucidating the underlying genetic causes of gliomas. In 2008, our understanding of glioma genetics was revolutionized when mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) were identified in the vast majority of progressive gliomas and secondary glioblastomas (GBMs). IDH enzymes normally catalyze the decarboxylation of isocitrate to generate α-ketoglutarate (αKG), but recurrent mutations at Arg132 of IDH1 and Arg172 of IDH2 confer a neomorphic enzyme activity that catalyzes reduction of αKG into the putative oncometabolite D-2-hydroxyglutate (D2HG). D2HG inhibits αKG-dependent dioxygenases and is thought to create a cellular state permissive to malignant transformation by altering cellular epigenetics and blocking normal differentiation processes. Herein, we discuss the relevant literature on mechanistic studies of IDH1/2 mutations in gliomas, and we review the potential impact of IDH1/2 mutations on molecular classification and glioma therapy. PMID:26188014

  7. identification of a novel mutation

    Indian Academy of Sciences (India)

    in children and it mostly affects the liver, muscle and heart. (Koshy et al. 2006). GSDs can be differentiated ... novel mutation; Azeri Turkish sequencing. Journal of Genetics, DOI 10.1007/s12041-016-0734-y, Vol. ... patients were screened by their physicians at a children's hospital in Tabriz between February 2011 and July ...

  8. Acoustic classification of alarm calls by vervet monkeys (Cercopithecus aethiops) and humans (Homo sapiens): I. Natural calls.

    Science.gov (United States)

    Owren, M J

    1990-03-01

    A 2-choice, operant-conditioning-based classification procedure was developed in which vervet monkeys (Cercopithecus aethiops) categorized species-typical snake and eagle alarm calls recorded from individually identified free-ranging animals. After preliminary training with a pair of calls from a single animal, 2 vervets were tested with novel exemplars produced by a variety of callers. Experiment 1 combined testing with continued training in routine classification of 14 new calls. In Experiment 2, the subjects were tested with 48 novel calls in rapid succession. Human (Homo sapiens) control subjects participated in the first study without extended preliminary training. Monkey and human subjects both showed immediate transfer to classification of unfamiliar alarm calls, despite variations both in voice characteristics and reproduction quality.

  9. Models for Call Acceptance Based on Handoff Guarantees

    Directory of Open Access Journals (Sweden)

    Attahiru Sule Alfa

    2008-10-01

    Full Text Available Call admission control (CAC is important for cellular wireless networks to provide quality-of-service (QoS requirements to users. Static and adaptive CAC schemes, respectively, make unrealistic assumptions about the distributions of the handoff call arrival process and the number of users in a cell. Handoff arrivals are usually assumed to follow Poisson process in static CAC schemes for Poisson new call arrivals and exponentially distributed call holding and cell residence times. We use a simple proof to show that this assumption of Poisson handoff arrival process is not justified for a two-cell wireless network. In general, we find that the handoff process can be captured by a two-dimensional Markov chain. We propose a novel adaptive CAC scheme for the two-cell system which accepts a new call if it can guarantee, with a certain probability, that a user's call will be maintained irrespective of its (his/her movement in the system. Then, we extend this adaptive scheme for multiple-cell network. We develop another variant of this adaptive scheme which we call fractional adaptive scheme. Both the adaptive and fractional adaptive schemes are found to outperform the guard channel scheme in controlling the handoff failure probability in a cellular wireless network.

  10. The association between advertising and calls to a tobacco quitline.

    Science.gov (United States)

    Mosbaek, Craig H; Austin, Donald F; Stark, Michael J; Lambert, Lori C

    2007-12-01

    This study assessed the cost effectiveness of different types of television and radio advertisements and the time of day in which advertisements were placed in generating calls to the Oregon tobacco quitline. Cost effectiveness was measured by cost per call, calculated as the cost of advertising divided by the number of quitline calls generated by that advertising. Advertising was bought in one-week or two-week blocks and included 27 daytime television buys, 22 evening television buys and 31 radio buys. Cost effectiveness varied widely by medium, time of day and advertisement used. Daytime television was seven times more cost effective than evening television and also more cost effective than radio. The most effective advertisements at generating quitline calls were real life testimonials by people who lost family members to tobacco and advertisements that deal practically with how to quit. Placement of television advertisements during the day versus the evening can increase an advertisement's effectiveness in generating calls to a quitline. Some advertising messages were more effective than others in generating calls to a quitline. Quitline providers can apply findings from previous research when planning media campaigns. In addition, call volume should be monitored in order to assess the cost effectiveness of different strategies to promote use of the quitline.

  11. Can a gray seal (Halichoerus grypus) generalize call classes?

    Science.gov (United States)

    Stansbury, Amanda L; de Freitas, Mafalda; Wu, Gi-Mick; Janik, Vincent M

    2015-11-01

    Past researchers have found that gray seals (Halichoerus grypus) are capable of classifying vocal signals by call type using a trained set, but were unable to generalize to novel exemplars (Shapiro, Slater, & Janik, 2004). Given the importance of auditory categorization in communication, it would be surprising if the animals were unable to generalize acoustically similar calls into classes. Here, we trained a juvenile gray seal to discriminate novel calls into 2 classes, "growls" and "moans," by vocally matching call types (i.e., the seal moaned when played a moan and growled when played a growl). Our method differed from the previous study as we trained the animal using a comparatively large set of exemplars with standardized durations, consisting of both the seal's own calls and those of 2 other seals. The seal successfully discriminated growls and moans for both her own (94% correct choices) and the other seals' (87% correct choices) calls. We used a generalized linear model (GLM) and found that the seal's performance significantly improved across test sessions, and that accuracy was higher during the first presentation of a sound from her own repertoire but decreased after multiple exposures. This pattern was not found for calls from unknown seals. Factor analysis for mixed data (FAMD) identified acoustic parameters that could be used to discriminate between call types and individuals. Growls and moans differed in noise, duration and frequency parameters, whereas individuals differed only in frequency. These data suggest that the seal could have gained information about both call type and caller identity using frequency cues. (c) 2015 APA, all rights reserved).

  12. Frogs Call at a Higher Pitch in Traffic Noise

    Directory of Open Access Journals (Sweden)

    Kirsten M. Parris

    2009-06-01

    Full Text Available Male frogs call to attract females for mating and to defend territories from rival males. Female frogs of some species prefer lower-pitched calls, which indicate larger, more experienced males. Acoustic interference occurs when background noise reduces the active distance or the distance over which an acoustic signal can be detected. Birds are known to call at a higher pitch or frequency in urban noise, decreasing acoustic interference from low-frequency noise. Using Bayesian linear regression, we investigated the effect of traffic noise on the pitch of advertisement calls in two species of frogs, the southern brown tree frog (Litoria ewingii and the common eastern froglet (Crinia signifera. We found evidence that L. ewingii calls at a higher pitch in traffic noise, with an average increase in dominant frequency of 4.1 Hz/dB of traffic noise, and a total effect size of 123 Hz. This frequency shift is smaller than that observed in birds, but is still large enough to be detected by conspecific frogs and confer a significant benefit to the caller. Mathematical modelling predicted a 24% increase in the active distance of a L. ewingii call in traffic noise with a frequency shift of this size. Crinia signifera may also call at a higher pitch in traffic noise, but more data are required to be confident of this effect. Because frog calls are innate rather than learned, the frequency shift demonstrated by L. ewingii may represent an evolutionary adaptation to noisy conditions. The phenomenon of frogs calling at a higher pitch in traffic noise could therefore constitute an intriguing trade-off between audibility and attractiveness to potential mates.

  13. Well Being and Job Satisfaction Among Call Centre Agents

    DEFF Research Database (Denmark)

    Wiegman, Inger Marie; Mathiesen, Karen; Møller, Niels

    2004-01-01

    satisfaction. The survey reveals a need for improving working conditions and for development of the work as such in call centres. The survey suggests that the agents both want to participate in the process of development and that they can contribute to the process in a competent way. In the project as part......A survey among 774 agents in four large Danish companies in house call centres shows that working in a call center is stressfull. Lack of control and autonomy, lack of potentiality and challenges, conflict between qualitative and quantitative demands and monitoring all have an adverse effect on job...

  14. The experience of work in a call centre environment

    Directory of Open Access Journals (Sweden)

    Sanet Hauptfleisch

    2006-02-01

    Full Text Available This qualitative research study explored the work experience in a call centre environment in an information technology call centre based in South Africa, which service foreign customers exclusively. Three data collection methods were used, namely narratives, in-depth interviews with call centre consultants, and observation. Following a grounded theory approach, four themes were elicited, namely the perceptions of team members, uncertainty created by a constantly changing environment, perceived distances due to management practices, and depersonalisation experienced while actually dealing with customers. In addition to this, the reported impact of these themes on work performance was explored and compared to existing research.

  15. An empirical analysis of the corporate call decision

    Science.gov (United States)

    Carlson, Murray Dean

    1998-12-01

    In this thesis we provide insights into the behavior of financial managers of utility companies by studying their decisions to redeem callable preferred shares. In particular, we investigate whether or not an option pricing based model of the call decision, with managers who maximize shareholder value, does a better job of explaining callable preferred share prices and call decisions than do other models of the decision. In order to perform these tests, we extend an empirical technique introduced by Rust (1987) to include the use of information from preferred share prices in addition to the call decisions. The model we develop to value the option embedded in a callable preferred share differs from standard models in two ways. First, as suggested in Kraus (1983), we explicitly account for transaction costs associated with a redemption. Second, we account for state variables that are observed by the decision makers but not by the preferred shareholders. We interpret these unobservable state variables as the benefits and costs associated with a change in capital structure that can accompany a call decision. When we add this variable, our empirical model changes from one which predicts exactly when a share should be called to one which predicts the probability of a call as the function of the observable state. These two modifications of the standard model result in predictions of calls, and therefore of callable preferred share prices, that are consistent with several previously unexplained features of the data; we show that the predictive power of the model is improved in a statistical sense by adding these features to the model. The pricing and call probability functions from our model do a good job of describing call decisions and preferred share prices for several utilities. Using data from shares of the Pacific Gas and Electric Co. (PGE) we obtain reasonable estimates for the transaction costs associated with a call. Using a formal empirical test, we are able to

  16. Rapid evolution of the human mutation spectrum.

    Science.gov (United States)

    Harris, Kelley; Pritchard, Jonathan K

    2017-04-25

    DNA is a remarkably precise medium for copying and storing biological information. This high fidelity results from the action of hundreds of genes involved in replication, proofreading, and damage repair. Evolutionary theory suggests that in such a system, selection has limited ability to remove genetic variants that change mutation rates by small amounts or in specific sequence contexts. Consistent with this, using SNV variation as a proxy for mutational input, we report here that mutational spectra differ substantially among species, human continental groups and even some closely related populations. Close examination of one signal, an increased TCC→TTC mutation rate in Europeans, indicates a burst of mutations from about 15,000 to 2000 years ago, perhaps due to the appearance, drift, and ultimate elimination of a genetic modifier of mutation rate. Our results suggest that mutation rates can evolve markedly over short evolutionary timescales and suggest the possibility of mapping mutational modifiers.

  17. Prevalent mutations in fatty acid oxidation disorders

    DEFF Research Database (Denmark)

    Gregersen, N; Andresen, B S; Bross, P

    2000-01-01

    UNLABELLED: The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation...... carrying the prevalent 985A > G mutation are at risk of developing life-threatening attacks. In SCAD/ethylmalonic aciduria, on the other hand, the presence of the prevalent susceptibility variations, 625A and 511T, in the SCAD gene seems to require additional genetic and cellular factors to be present...... in order to result in a phenotype. For the prevalent mutations in the LCHAD and CPT II genes further data are needed to evaluate the penetrance and risk of manifest disease when carrying these mutations. CONCLUSION: Assessment of the prevalence of a prevalent mutation in the mutation spectrum...

  18. Identifying driver mutations in sequenced cancer genomes

    DEFF Research Database (Denmark)

    Raphael, Benjamin J; Dobson, Jason R; Oesper, Layla

    2014-01-01

    High-throughput DNA sequencing is revolutionizing the study of cancer and enabling the measurement of the somatic mutations that drive cancer development. However, the resulting sequencing datasets are large and complex, obscuring the clinically important mutations in a background of errors, noise......, and random mutations. Here, we review computational approaches to identify somatic mutations in cancer genome sequences and to distinguish the driver mutations that are responsible for cancer from random, passenger mutations. First, we describe approaches to detect somatic mutations from high-throughput DNA...... sequencing data, particularly for tumor samples that comprise heterogeneous populations of cells. Next, we review computational approaches that aim to predict driver mutations according to their frequency of occurrence in a cohort of samples, or according to their predicted functional impact on protein...

  19. Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma

    NARCIS (Netherlands)

    Monajemi, Houshang; Zhang, Lin; Li, Gang; Jeninga, Ellen H.; Cao, Henian; Maas, Mario; Brouwer, C. B.; Kalkhoven, Eric; Stroes, Erik; Hegele, Robert A.; Leff, Todd

    2007-01-01

    CONTEXT: Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor-gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660) and the PPARG form is called FPLD3 (MIM

  20. A single-base mutation in the peroxisome proliferator-activated receptor gamma 4 promoter associated with altered in vitro expression and partial lipodystrophy

    NARCIS (Netherlands)

    Al-Shali, K; Knoers, N; Hermus, AR; Tack, CJ; Hegele, RA

    2004-01-01

    Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660), and the PPARG form is called FPLD3 (MIM 604367). We

  1. A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy.

    NARCIS (Netherlands)

    Al-Shali, K.; Cao, H.; Knoers, N.V.A.M.; Hermus, A.R.M.M.; Tack, C.J.J.; Hegele, R.A.

    2004-01-01

    Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660), and the PPARG form is called FPLD3 (MIM 604367). We

  2. Mutation Rates of STR Systems in Danes

    DEFF Research Database (Denmark)

    Andersen, Kim Emil; Bøttcher, Susanne Gammelgaard; Christensen, Susanne

    rates on different STR loci. In the cases where mutations had occured, we found no interaction between kits, STRA loci or sexes. However, we found differences in the mutation rates between the sexes, meaning that the differences in male and female mutation rates can be assumed constant over STR loci...... and kits. Sex and STR locus specific mutation rates were estimated with 95% confidence limits by the method of Clopper and Pearson (1934)....

  3. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-01-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution. PMID:9560365

  4. Base-calling algorithm with vocabulary (BCV method for analyzing population sequencing chromatograms.

    Directory of Open Access Journals (Sweden)

    Yuri S Fantin

    Full Text Available Sanger sequencing is a common method of reading DNA sequences. It is less expensive than high-throughput methods, and it is appropriate for numerous applications including molecular diagnostics. However, sequencing mixtures of similar DNA of pathogens with this method is challenging. This is important because most clinical samples contain such mixtures, rather than pure single strains. The traditional solution is to sequence selected clones of PCR products, a complicated, time-consuming, and expensive procedure. Here, we propose the base-calling with vocabulary (BCV method that computationally deciphers Sanger chromatograms obtained from mixed DNA samples. The inputs to the BCV algorithm are a chromatogram and a dictionary of sequences that are similar to those we expect to obtain. We apply the base-calling function on a test dataset of chromatograms without ambiguous positions, as well as one with 3-14% sequence degeneracy. Furthermore, we use BCV to assemble a consensus sequence for an HIV genome fragment in a sample containing a mixture of viral DNA variants and to determine the positions of the indels. Finally, we detect drug-resistant Mycobacterium tuberculosis strains carrying frameshift mutations mixed with wild-type bacteria in the pncA gene, and roughly characterize bacterial communities in clinical samples by direct 16S rRNA sequencing.

  5. Base-calling algorithm with vocabulary (BCV) method for analyzing population sequencing chromatograms.

    Science.gov (United States)

    Fantin, Yuri S; Neverov, Alexey D; Favorov, Alexander V; Alvarez-Figueroa, Maria V; Braslavskaya, Svetlana I; Gordukova, Maria A; Karandashova, Inga V; Kuleshov, Konstantin V; Myznikova, Anna I; Polishchuk, Maya S; Reshetov, Denis A; Voiciehovskaya, Yana A; Mironov, Andrei A; Chulanov, Vladimir P

    2013-01-01

    Sanger sequencing is a common method of reading DNA sequences. It is less expensive than high-throughput methods, and it is appropriate for numerous applications including molecular diagnostics. However, sequencing mixtures of similar DNA of pathogens with this method is challenging. This is important because most clinical samples contain such mixtures, rather than pure single strains. The traditional solution is to sequence selected clones of PCR products, a complicated, time-consuming, and expensive procedure. Here, we propose the base-calling with vocabulary (BCV) method that computationally deciphers Sanger chromatograms obtained from mixed DNA samples. The inputs to the BCV algorithm are a chromatogram and a dictionary of sequences that are similar to those we expect to obtain. We apply the base-calling function on a test dataset of chromatograms without ambiguous positions, as well as one with 3-14% sequence degeneracy. Furthermore, we use BCV to assemble a consensus sequence for an HIV genome fragment in a sample containing a mixture of viral DNA variants and to determine the positions of the indels. Finally, we detect drug-resistant Mycobacterium tuberculosis strains carrying frameshift mutations mixed with wild-type bacteria in the pncA gene, and roughly characterize bacterial communities in clinical samples by direct 16S rRNA sequencing.

  6. Mutanalyst, an online tool for assessing the mutational spectrum of epPCR libraries with poor sampling

    DEFF Research Database (Denmark)

    Ferla, Matteo

    2016-01-01

    Background: Assessing library diversity is an important control step in a directed evolution experiment. To do this, a limited amount of colonies from a test library are sequenced and tested. In the case of an error-prone PCR library, the spectrum of the identified mutations - the proportions...... of mutations of a specific nucleobase to another-is calculated enabling the user to make more informed predictions on library diversity and coverage. However, the calculations of the mutational spectrum are severely affected by the limited sample sizes.Results: Here an online program, called Mutanalyst......, is presented, which not only automates the calculations, but also estimates errors involved. Specifically, the errors are calculated thanks to the complementarity of DNA, which means that a mutation has a complementary mutation on the other sequence. Additionally, in the case of determining the mean number...

  7. 47 CFR 90.241 - Radio call box operations.

    Science.gov (United States)

    2010-10-01

    ... transmitter can be only manually reactivated. (9) Frequency selection must be made with regard to reception of... effective radiated power (ERP). (3) The height of a call box antenna may not exceed 6.1 meters (20 feet...

  8. Anuran Call Survey Summary 2006 Canaan Valley National Wildlife Refuge

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Anuran call surveys were conducted at Canaan Valley National Wildlife Refuge in April-June 2006 using the protocol developed by the North American Amphibian...

  9. Call for expressions of interest: Strengthening engineering research ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    cgu

    2017-10-30

    accreditation organizations, companies, chambers of commerce, technology intermediaries, international engineering organizations). • The organization or consortium must have expertise in fields ... E. Timelines (updated October 30, 2017). August 14, 2017: Call for expressions of interest launched. September 24, 2017: ...

  10. Taxonomic and phylogenetic utility of variation in advertising calls of ...

    African Journals Online (AJOL)

    Taxonomic and phylogenetic utility of variation in advertising calls of francolins and spurfowls (Galliformes: Phasianidae). Tshifhiwa G. Mandiwana-Neudani, Rauri C.K. Bowie, Martine Hausberger, Laurence Henry, Timothy M. Crowe ...

  11. Nuthatches eavesdrop on variations in heterospecific chickadee mobbing alarm calls

    Science.gov (United States)

    Templeton, Christopher N.; Greene, Erick

    2007-01-01

    Many animals recognize the alarm calls produced by other species, but the amount of information they glean from these eavesdropped signals is unknown. We previously showed that black-capped chickadees (Poecile atricapillus) have a sophisticated alarm call system in which they encode complex information about the size and risk of potential predators in variations of a single type of mobbing alarm call. Here we show experimentally that red-breasted nuthatches (Sitta canadensis) respond appropriately to subtle variations of these heterospecific “chick-a-dee” alarm calls, thereby evidencing that they have gained important information about potential predators in their environment. This study demonstrates a previously unsuspected level of discrimination in intertaxon eavesdropping. PMID:17372225

  12. 'Loneliness Epidemic' Called a Major Public Health Threat

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_167643.html 'Loneliness Epidemic' Called a Major Public Health Threat Social ... 7, 2017 MONDAY, Aug. 7, 2017 (HealthDay News) -- Loneliness may be more hazardous to your health than ...

  13. CEE/CA: Report calls for decriminalization of sex work

    National Research Council Canada - National Science Library

    Betteridge, Glenn

    2006-01-01

    In December 2005, the Central and Eastern European Harm Reduction Network (CEEHRN) released a report calling for the decriminalization of sex work in the 27 countries of Central and Eastern Europe and Central Asia...

  14. Using direct mail to prompt smokers to call a quitline.

    Science.gov (United States)

    O'Connor, Richard J; Carlin-Menter, Shannon M; Celestino, Paula B; Bax, Patricia; Brown, Anthony; Cummings, K Michael; Bauer, Joseph E

    2008-07-01

    Telephone quitlines efficiently deliver cessation services, but few smokers use them. This article describes an unsolicited direct mail campaign designed to increase calls to the New York State Smokers' Quitline. Two post-cards advertising the quitline and the availability of free nicotine patches were sent to 77,527 smoker households between August and October 2005. One postcard emphasized the effectiveness of the nicotine patch, whereas the other contrasted the risks of smoking and patch use. Response was evaluated using geographically linked calls to the quitline 15 days before and after each mailing. The postcard campaign increased call volume by 36%, with no difference between the two postcard versions. Those who reported calling the quitline in response to a mailing were more likely to request nicotine patches (91% versus 82%, p promotional tools used by quitlines.

  15. A new stratification of mourning dove call-count routes

    Science.gov (United States)

    Blankenship, L.H.; Humphrey, A.B.; MacDonald, D.

    1971-01-01

    The mourning dove (Zenaidura macroura) call-count survey is a nationwide audio-census of breeding mourning doves. Recent analyses of the call-count routes have utilized a stratification based upon physiographic regions of the United States. An analysis of 5 years of call-count data, based upon stratification using potential natural vegetation, has demonstrated that this uew stratification results in strata with greater homogeneity than the physiographic strata, provides lower error variance, and hence generates greatet precision in the analysis without an increase in call-count routes. Error variance was reduced approximately 30 percent for the contiguous United States. This indicates that future analysis based upon the new stratification will result in an increased ability to detect significant year-to-year changes.

  16. Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut

    DEFF Research Database (Denmark)

    Pipek, Orsolya; Ribli, Dezső; Molnar, Janos

    2017-01-01

    in multiple recent studies to find unique, treatment induced mutations in sets of isogenic samples with very low false positive rates. These types of studies provide an important contribution to determining the mutagenic effect of environmental agents or genetic defects, and IsoMut turned out......Detection of somatic mutations is one of the main goals of next generation DNA sequencing. A wide range of experimental systems are available for the study of spontaneous or environmentally induced mutagenic processes. However, most of the routinely used mutation calling algorithms...

  17. Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targetted sequencing and relative mutation dosage: a feasibility study.

    Science.gov (United States)

    Xiong, L; Barrett, A N; Hua, R; Ho, Ssy; Jun, L; Chan, Kca; Mei, Z; Choolani, M

    2017-12-06

    To evaluate whether targeted sequencing and relative mutation dosage can be used to diagnose correctly inheritance of maternal β-thalassaemia mutations in cell-free DNA. Feasibility study using samples collected in a prenatal clinic. South East Asia. Couples where both partners were known to be carriers of one of four common β-thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with β-thalassaemia. 49 samples previously identified as having inherited a paternal β-thalassaemia mutation were amplified using nested polymerase chain reaction (PCR), and then sequencing. Relative mutation dosage was used to classify the fetus as having inherited the wild-type or mutant maternal allele. Classification of the fetus as 'unaffected' (if the maternal wild-type allele was inherited) or 'affected' with β-thalassaemia (if the maternal mutant allele was inherited). A classification for inheritance of maternal allele was obtained in 48/49 samples (98.0%). A concordant call was made in 44/48 cases (91.7%): one false-positive and three false-negatives were obtained. Thus, we had an overall sensitivity of 87.5% [95% confidence interval (CI) 67.6-97.3%] and a specificity of 95.8% (95% CI 78.9-99.9%) for inheritance of maternal genotype. RMD for detection of inheritance of maternal β-thalassaemia mutations has potential for clinical use. Our sequential approach could be applied to other single-gene disorders. NIPT for β-thalassaemia achieved using nested-PCR followed by relative mutation dosage. © 2017 Royal College of Obstetricians and Gynaecologists.

  18. On-call emergency workload of a general surgical team

    Directory of Open Access Journals (Sweden)

    Jawaid Masood

    2009-01-01

    Full Text Available Background: To examine the on-call emergency workload of a general surgical team at a tertiary care teaching hospital to guide planning and provision of better surgical services. Patients and Methods: During six months period from August to January 2007; all emergency calls attended by general surgical team of Surgical Unit II in Accident and Emergency department (A and E and in other units of Civil, Hospital Karachi, Pakistan were prospectively recorded. Data recorded includes timing of call, diagnosis, operation performed and outcome apart from demography. Results: Total 456 patients (326 males and 130 females were attended by on-call general surgery team during 30 emergency days. Most of the calls, 191 (41.9% were received from 8 am to 5 pm. 224 (49.1% calls were of abdominal pain, with acute appendicitis being the most common specific pathology in 41 (9.0% patients. Total 73 (16.0% calls were received for trauma. Total 131 (28.7% patients were admitted in the surgical unit for urgent operation or observation while 212 (46.5% patients were discharged from A and E. 92 (20.1% patients were referred to other units with medical referral accounts for 45 (9.8% patients. Total 104 (22.8% emergency surgeries were done and the most common procedure performed was appendicectomy in 34 (32.7% patients. Conclusion: Major workload of on-call surgical emergency team is dealing with the acute conditions of abdomen. However, significant proportion of patients are suffering from other conditions including trauma that require a holistic approach to care and a wide range of skills and experience. These results have important implications in future healthcare planning and for the better training of general surgical residents.

  19. The Call to Excellence--No Room for Complacency.

    Science.gov (United States)

    Mosher, Ruth

    2015-01-01

    The call of the nurse is to promote, protect, and support health in all areas of life. Christian nurses are further called to imitate Jesus Christ. Yet, complacency is a common attitude among nurses. With new national standards of collecting and publicly reporting patient perceptions of care, positive nursing attitudes and excellent care are imperative to successful outcomes. What does it mean to seek professional excellence?

  20. 29 CFR 778.221 - “Call-back” pay.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false âCall-backâ pay. 778.221 Section 778.221 Labor Regulations...Regular Rateâ Payments Not for Hours Worked § 778.221 “Call-back” pay. (a) General. In the interest of... payments consist of a specified number of hours' pay at the applicable straight time or overtime rates...

  1. Server Level Analysis of Network Operation Utilizing System Call Data

    Science.gov (United States)

    2010-09-25

    information thus failing to perform reliable detection. Kruegel at al. [9] suggests using arguments of the file management system calls which represent... managed various windows components and performed other activity trivial for an advanced user. None of the monitored processes caused false positive...391-403, 2004. [9] C. Kruegel, D. Mutz, F. Valeur and G. Vigna. “On the Detection of Anomalous System Call Arguments”. ESORICS, Oct. 2003. [10] M

  2. Non-linguistic analysis of call center conversations

    CERN Document Server

    Kopparapu, Sunil Kumar

    2014-01-01

    The book focuses on the part of the audio conversation not related to language such as speaking rate (in terms of number of syllables per unit time) and emotion centric features. This text examines using non-linguistics features to infer information from phone calls to call centers. The author analyzes 'how' the conversation happens and not 'what' the conversation is about by audio signal processing and analysis.

  3. Genotype and SNP calling from next-generation sequencing data

    DEFF Research Database (Denmark)

    Nielsen, Rasmus; Paul, Joshua S.; Albrechtsen, Anders

    2011-01-01

    Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated w...... with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies....

  4. Base-calling for next-generation sequencing platforms

    OpenAIRE

    Ledergerber, Christian; Dessimoz, Christophe

    2011-01-01

    Next-generation sequencing platforms are dramatically reducing the cost of DNA sequencing. With these technologies, bases are inferred from light intensity signals, a process commonly referred to as base-calling. Thus, understanding and improving the quality of sequence data generated using these approaches are of high interest. Recently, a number of papers have characterized the biases associated with base-calling and proposed methodological improvements. In this review, we summarize recent ...

  5. Environmental Influences On Diel Calling Behavior In Baleen Whales

    Science.gov (United States)

    2015-09-30

    first use of real-time detection and reporting of marine mammal calls from autonomous underwater vehicles to adaptively plan research activities. 3...eastern tropical Pacific. Animal Behaviour 69:951–958. Wiggins, S. M., E. M. Oleson, M. A. Mcdonald, and J. A. Hildebrand. 2005. Blue whale...Balaenoptera musculus) diel call patterns offshore of Southern California. Aquatic Mammals 31:161–168. PUBLICATIONS Baumgartner, M.F., D.M

  6. Biological evolution model with conditional mutation rates

    Science.gov (United States)

    Saakian, David B.; Ghazaryan, Makar; Bratus, Alexander; Hu, Chin-Kun

    2017-05-01

    We consider an evolution model, in which the mutation rates depend on the structure of population: the mutation rates from lower populated sequences to higher populated sequences are reduced. We have applied the Hamilton-Jacobi equation method to solve the model and calculate the mean fitness. We have found that the modulated mutation rates, directed to increase the mean fitness.

  7. DNA evolved to minimize frameshift mutations

    OpenAIRE

    Agoni, Valentina

    2013-01-01

    Point mutations can surely be dangerous but what is worst than to lose the reading frame?! Does DNA evolved a strategy to try to limit frameshift mutations?! Here we investigate if DNA sequences effectively evolved a system to minimize frameshift mutations analyzing the transcripts of proteins with high molecular weights.

  8. Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis

    OpenAIRE

    Pabst, T; Eyholzer, M; Fos, J; Mueller, B U

    2009-01-01

    CCAAT/enhancer binding protein alpha (CEBPA) mutations in AML are associated with favourable prognosis and are divided into N- and C-terminal mutations. The majority of AML patients have both types of mutations. We assessed the prognostic significance of single (n=7) and double (n=12) CEBPA mutations among 224 AML patients. Double CEBPA mutations conferred a decisively favourable overall (P=0.006) and disease-free survival (P=0.013). However, clinical outcome of patients with single CEBPA mut...

  9. Responses of squirrel monkeys to their experimentally modified mobbing calls

    Science.gov (United States)

    Fichtel, Claudia; Hammerschmidt, Kurt

    2003-05-01

    Previous acoustic analyses suggested emotion-correlated changes in the acoustic structure of squirrel monkey (Saimiri sciureus) vocalizations. Specifically, calls given in aversive contexts were characterized by an upward shift in frequencies, often accompanied by an increase in amplitude. In order to test whether changes in frequencies or amplitude are indeed relevant for conspecific listeners, playback experiments were conducted in which either frequencies or amplitude of mobbing calls were modified. Latency and first orienting response were measured in playback experiments with six adult squirrel monkeys. After broadcasting yaps with increased frequencies or amplitude, squirrel monkeys showed a longer orienting response towards the speaker than after the corresponding control stimuli. Furthermore, after broadcasting yaps with decreased frequencies or amplitude, squirrel monkeys showed a shorter orienting response towards the speaker than after the corresponding manipulated calls with higher frequencies or amplitude. These results suggest that changes in frequencies or amplitude were perceived by squirrel monkeys, indicating that the relationship between call structure and the underlying affective state of the caller agreed with the listener's assessment of the calls. However, a simultaneous increase in frequencies and amplitude did not lead to an enhanced response, compared to each single parameter. Thus, from the receiver's perspective, both call parameters may mutually replace each other.

  10. Seasonal and diurnal calling patterns of Ross and leopards

    Science.gov (United States)

    Rogers, Tracey L.; Rowney, Gayle A.; Ciaglia, Michaela B.; Cato, Douglas H.

    2005-09-01

    The temporal calling patterns of two Antarctic pack ice seals, the leopard and Ross seal, were examined. This included seasonal onset and decline of calling (coinciding with their breeding season) as well as diurnal changes. Understanding of calling behavior has important implications for acoustic surveying, since this allows the number of calls to be related to an index of the number of animals present and to estimate abundance. The monthly changes in diurnal calling and haul-out patterns (measured via satellite telemetry) were compared. Underwater acoustic recordings were made between 14 October 2003 and 10 January 2004 off Mawson, Eastern Antarctica (660 44.243S and 690 48.748E). Recordings were made using an Acoustics Recording Package (ARP by Dr. John Hildebrand, Scripps Institute of Oceanography, La Jolla, CA) which is designed to sit on the seafloor and passively record acoustic signals. The package was deployed at a depth of 1320.7 m. The sampling rate was 500 Hz and the effective bandwidth from 10 to 250 Hz, covering the bandwidth of only the low-frequency calls of the Ross and leopard seal.

  11. Neurocognitive effects following an overnight call shift on faculty anesthesiologists.

    Science.gov (United States)

    Chang, L C; Mahoney, J J; Raty, S R; Ortiz, J; Apodaca, S; De La Garza, R

    2013-09-01

    The impact of sleep deprivation on neurocognitive performance is a significant concern to both the health of patients and to the physicians caring for them, as demonstrated by the Accreditation Council for Graduate Medical Education enforced resident work hours. This study examined the effects of an overnight call at a level 1 trauma hospital on neurocognitive performance of faculty anesthesiologists. Eleven faculty anesthesiologists completed a series of computerized tests that were designed to evaluate different areas of neurocognition, such as working memory, verbal learning, and concentration. The anesthesiologists completed the tests following an overnight call in the morning at 6:30 and again following a normal night's rest at 6:30 on a different date. Within-subjects, repeated measures analysis of variance revealed a significant difference on post-call vs. control performance on measures of learning and memory (P = 0.04). However, there were no significant differences on performance on measures of working memory or sustained attention and vigilance. Pre-call vs. control performances were also evaluated, but no significant differences were detected. Following a night call shift, performance on learning and memory was significantly reduced. Other areas were not significantly affected, which may have been due to certain possibilities, such as practice effect or variability in the call shifts. The real-world relevance of the decline in performance on these measures remains unclear. © 2013 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  12. Gene Targeted Mice with Conditional Knock-In (-Out) of NMDAR Mutations.

    Science.gov (United States)

    Sprengel, Rolf; Eltokhi, Ahmed; Single, Frank N

    2017-01-01

    For the genetic alterations of NMDA receptor (NMDAR) properties like Ca2+-permeability or voltage-dependent gating in mice and for the experimental analysis of nonsense or missense mutations that were identified in human patients, single nucleotide mutations have to be introduced into the germ line of mice (Burnashev and Szepetowski, Curr Opin Pharmacol 20:73-82, 2015; Endele et al., Nat Genet 42:1021-1026, 2010). This can be done with very high precision by the well-established method of gene replacement, which makes use of homologous recombination in pluripotent embryonic stem (ES) cells of mice. The homologous recombination at NMDAR subunit genes (Grin; for glutamate receptor ionotropic NMDAR subtype) has to be performed by targeting vectors, also called replacement vectors. The targeting vector should encode part of the gene for the NMDAR subunit, the NMDAR mutation, and a removable selection maker. In these days, the targeting vector can be precisely designed using DNA sequences from public databases. The assembly of the vector is then done from isogenic NMDAR gene fragments cloned in bacterial artificial chromosomes (BACs) using "high fidelity" long-range PCR reactions. During these PCR reactions, the NMDAR mutations are introduced into the cloned NMDAR gene fragments of the targeting vector. Finally, the targeting vector is used for homologous recombination in mouse ES cells. Positive ES cell clones which have the correct mutation have to be selected and are then used for blastocyst injection to generate chimeric mice that hopefully transmit the Grin gene targeted ES cells to their offspring. In the first offspring generation of the founder (F1), some animals will be heterozygous for the targeted NMDAR gene mutation. In order to regulate the expression of NMDAR mutations, it is important to keep the targeted NMDAR mutation under conditional control. Here, we describe a general method how those conditionally controlled NMDAR mutations can be engraved into

  13. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.

    Science.gov (United States)

    Liu, Cong; Aronow, Bruce J; Jegga, Anil G; Wang, Ning; Miethke, Alex; Mourya, Reena; Bezerra, Jorge A

    2007-01-01

    Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of mutational hotspots make it difficult to survey for disease-causing mutations in clinical practice. Here, we aimed to develop a technological tool that reads out the nucleotide sequence of these genes rapidly and accurately. 25-mer nucleotide probes were designed to identify each base for all exons, 10 bases of intronic sequence bordering exons, 280-500 bases upstream from the first exon for each gene, and 350 bases of the second intron of the JAG1 gene and tiled using the Affymetrix resequencing platform. We then developed high-fidelity polymerase chain reactions to produce amplicons using 1 mL of blood from each subject; amplicons were hybridized to the chip, and nucleotide calls were validated by standard capillary sequencing methods. Hybridization of amplicons with the chip produced a high nucleotide sequence readout for all 5 genes in a single assay, with an automated call rate of 93.5% (range, 90.3%-95.7%). The accuracy of nucleotide calls was 99.99% when compared with capillary sequencing. Testing the chip on subjects with cholestatic syndromes identified disease-causing mutations in SERPINA1, JAG1, ATP8B1, ABCB11, or ABCB4. The resequencing chip efficiently reads SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 with a high call rate and accuracy in one assay and identifies disease-causing mutations.

  14. PAX6 mutations: genotype-phenotype correlations

    Directory of Open Access Journals (Sweden)

    Hanson Isabel M

    2005-05-01

    Full Text Available Abstract Background The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris and related developmental eye diseases. PAX6 mutations are archived in the Human PAX6 Allelic Variant Database, which currently contains 309 records, 286 of which are mutations in patients with eye malformations. Results We examined the records in the Human PAX6 Allelic Variant Database and documented the frequency of different mutation types, the phenotypes associated with different mutation types, the contribution of CpG transitions to the PAX6 mutation spectrum, and the distribution of chain-terminating mutations in the open reading frame. Mutations that introduce a premature termination codon into the open reading frame are predominantly associated with aniridia; in contrast, non-aniridia phenotypes are typically associated with missense mutations. Four CpG dinucleotides in exons 8, 9, 10 and 11 are major mutation hotspots, and transitions at these CpG's account for over half of all nonsense mutations in the database. Truncating mutations are distributed throughout the PAX6 coding region, except for the last half of exon 12 and the coding part of exon 13, where they are completely absent. The absence of truncating mutations in the 3' part of the coding region is statistically significant and is consistent with the idea that nonsense-mediated decay acts on PAX6 mutant alleles. Conclusion The PAX6 Allelic Variant Database is a valuable resource for studying genotype-phenotype correlations. The consistent association of truncating mutations with the aniridia phenotype, and the distribution of truncating mutations in the PAX6 open reading frame, suggests that nonsense-mediated decay acts on PAX6 mutant alleles.

  15. Mutation Clusters from Cancer Exome.

    Science.gov (United States)

    Kakushadze, Zura; Yu, Willie

    2017-08-15

    We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types. A majority of cancer types exhibit a mutation clustering structure. Our results are in-sample stable. They are also out-of-sample stable when applied to 1389 published genome samples across 14 cancer types. In contrast, we find in- and out-of-sample instabilities in cancer signatures extracted from exome samples via nonnegative matrix factorization (NMF), a computationally-costly and non-deterministic method. Extracting stable mutation structures from exome data could have important implications for speed and cost, which are critical for early-stage cancer diagnostics, such as novel blood-test methods currently in development.

  16. Mutation models for DVI analysis.

    Science.gov (United States)

    Ricciardi, F; Slooten, K

    2014-07-01

    In recent years, the use of DNA data for personal identification has become a crucial feature for forensic applications such as disaster victim identification (DVI). Computational methods to cope with these kinds of problems must be designed to handle large scale events with a high number of victims, obtaining likelihood ratios and posterior odds with respect to different identification hypotheses. Trying to minimize identification error rates (i.e., false negatives and false positives), a number of computational methods, based either on the choice between alternative mutation models or on the adoption of a different strategy, are proposed and evaluated. Using simulation of DNA profiles, our goal is to suggest which is the most appropriate way to address likelihood ratio computation in DVI cases, especially to be able to efficiently deal with complicating issues such as mutations or null alleles, considering that data about these latter are limited and fragmentary. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  17. Pathogenic mitochondrial DNA point mutations

    Directory of Open Access Journals (Sweden)

    N. A. Litvinova

    2014-01-01

    Full Text Available Cell energy metabolic disorders, the basis for which is mitochondrial insufficiency caused by mitochondrial DNA (mtDNA point mutations, give rise to a broad spectrum of clinical manifestations so the purpose of this review is to analyze the recent publications on the relationship of mtDNA point mutations to mitochondrial diseases, which unveil the importance of development of molecular diagnosis. The presence of A3243G, T3271C, T3291C, C3256T, A8344G, G8356A, A3260G, СЗЗОЗТ, and A4300Gmutations in mtDNA may suggest that there are multiorgan dysfunctions and multisystem disorders, the clinical signs and symptoms of which can vary with time, which emphasizes the importance of comprehensive genetic studies if the mitochondrial disease is assumed to be clinical.

  18. Actionable mutations in canine hemangiosarcoma.

    Directory of Open Access Journals (Sweden)

    Guannan Wang

    Full Text Available Angiosarcomas (AS are rare in humans, but they are a deadly subtype of soft tissue sarcoma. Discovery sequencing in AS, especially the visceral form, is hampered by the rarity of cases. Most diagnostic material exists as archival formalin fixed, paraffin embedded tissue which serves as a poor source of high quality DNA for genome-wide sequencing. We approached this problem through comparative genomics. We hypothesized that exome sequencing a histologically similar tumor, hemangiosarcoma (HSA, that occurs in approximately 50,000 dogs per year, may lead to the identification of potential oncogenic drivers and druggable targets that could also occur in angiosarcoma.Splenic hemangiosarcomas are common in dogs, which allowed us to collect a cohort of archived matched tumor and normal tissue samples suitable for whole exome sequencing. Mapping of the reads to the latest canine reference genome (Canfam3 demonstrated that >99% of the targeted exomal regions were covered, with >80% at 20X coverage and >90% at 10X coverage.Sequence analysis of 20 samples identified somatic mutations in PIK3CA, TP53, PTEN, and PLCG1, all of which correspond to well-known tumor drivers in human cancer, in more than half of the cases. In one case, we identified a mutation in PLCG1 identical to a mutation observed previously in this gene in human visceral AS. Activating PIK3CA mutations present novel therapeutic targets, and clinical trials of targeted inhibitors are underway in human cancers. Our results lay a foundation for similar clinical trials in canine HSA, enabling a precision medicine approach to this disease.

  19. Actionable mutations in canine hemangiosarcoma.

    Science.gov (United States)

    Wang, Guannan; Wu, Ming; Maloneyhuss, Martha A; Wojcik, John; Durham, Amy C; Mason, Nicola J; Roth, David B

    2017-01-01

    Angiosarcomas (AS) are rare in humans, but they are a deadly subtype of soft tissue sarcoma. Discovery sequencing in AS, especially the visceral form, is hampered by the rarity of cases. Most diagnostic material exists as archival formalin fixed, paraffin embedded tissue which serves as a poor source of high quality DNA for genome-wide sequencing. We approached this problem through comparative genomics. We hypothesized that exome sequencing a histologically similar tumor, hemangiosarcoma (HSA), that occurs in approximately 50,000 dogs per year, may lead to the identification of potential oncogenic drivers and druggable targets that could also occur in angiosarcoma. Splenic hemangiosarcomas are common in dogs, which allowed us to collect a cohort of archived matched tumor and normal tissue samples suitable for whole exome sequencing. Mapping of the reads to the latest canine reference genome (Canfam3) demonstrated that >99% of the targeted exomal regions were covered, with >80% at 20X coverage and >90% at 10X coverage. Sequence analysis of 20 samples identified somatic mutations in PIK3CA, TP53, PTEN, and PLCG1, all of which correspond to well-known tumor drivers in human cancer, in more than half of the cases. In one case, we identified a mutation in PLCG1 identical to a mutation observed previously in this gene in human visceral AS. Activating PIK3CA mutations present novel therapeutic targets, and clinical trials of targeted inhibitors are underway in human cancers. Our results lay a foundation for similar clinical trials in canine HSA, enabling a precision medicine approach to this disease.

  20. Sleep Quality of Call Handlers Employed in International Call Centers in National Capital Region of Delhi, India

    Directory of Open Access Journals (Sweden)

    JD Raja

    2016-10-01

    suspicion of insomnia or suspected insomnia; the rest had no sleep problem. Smoking, poor social support, heavy workload, lack of relaxation facility at office, and prolonged travel time to office were independent predictors of sleep quality (p<0.05. Conclusion: Call handlers have to compromise upon their sleep owing to the contemporary work settings in call centers. Safeguarding their health becomes an occupational health challenge to public health specialists.

  1. Conduits to care: call lights and patients’ perceptions of communication

    Directory of Open Access Journals (Sweden)

    Montie M

    2017-09-01

    Full Text Available Mary Montie,1 Clayton Shuman,1 Jose Galinato,1 Lance Patak,2 Christine A Anderson,1 Marita G Titler1 1Department of Systems, Populations, and Leadership, School of Nursing, University of Michigan, Ann Arbor, MI, 2Department of Anesthesiology and Pain Medicine, Seattle Children’s Hospital, Seattle, WA, USA Background: Call light systems remain the primary means of hospitalized patients to initiate communication with their health care providers. Although there is vast amounts of literature discussing patient communication with their health care providers, few studies have explored patients’ perceptions concerning call light use and communication. The specific aim of this study was to solicit patients’ perceptions regarding their call light use and communication with nursing staff. Methods: Patients invited to this study met the following inclusion criteria: proficient in English, been hospitalized for at least 24 hours, aged ≥21 years, and able to communicate verbally (eg, not intubated. Thirty participants provided written informed consent, were enrolled in the study, and completed interviews. Results: Using qualitative descriptive methods, five major themes emerged from patients’ perceptions (namely; establishing connectivity, participant safety concerns, no separation: health care and the call light device, issues with the current call light, and participants’ perceptions of “nurse work”. Multiple minor themes supported these major themes. Data analysis utilized the constant comparative methods of Glaser and Strauss. Discussion: Findings from this study extend the knowledge of patients’ understanding of not only why inconsistencies occur between the call light and their nurses, but also why the call light is more than merely a device to initiate communication; rather, it is a direct conduit to their health care and its delivery. Keywords: nurse–patient communication, medical technology, quality of care, qualitative research

  2. Missing call bias in high-throughput genotyping

    Directory of Open Access Journals (Sweden)

    Lin Rong

    2009-03-01

    Full Text Available Abstract Background The advent of high-throughput and cost-effective genotyping platforms made genome-wide association (GWA studies a reality. While the primary focus has been invested upon the improvement of reducing genotyping error, the problems associated with missing calls are largely overlooked. Results To probe into the effect of missing calls on GWAs, we demonstrated experimentally the prevalence and severity of the problem of missing call bias (MCB in four genotyping technologies (Affymetrix 500 K SNP array, SNPstream, TaqMan, and Illumina Beadlab. Subsequently, we showed theoretically that MCB leads to biased conclusions in the subsequent analyses, including estimation of allele/genotype frequencies, the measurement of HWE and association tests under various modes of inheritance relationships. We showed that MCB usually leads to power loss in association tests, and such power change is greater than what could be achieved by equivalent reduction of sample size unbiasedly. We also compared the bias in allele frequency estimation and in association tests introduced by MCB with those by genotyping errors. Our results illustrated that in most cases, the bias can be greatly reduced by increasing the call-rate at the cost of genotyping error rate. Conclusion The commonly used 'no-call' procedure for the observations of borderline quality should be modified. If the objective is to minimize the bias, the cut-off for call-rate and that for genotyping error rate should be properly coupled in GWA. We suggested that the ongoing QC cut-off for call-rate should be increased, while the cut-off for genotyping error rate can be reduced properly.

  3. LHON: Mitochondrial Mutations and More.

    Science.gov (United States)

    Kirches, E

    2011-03-01

    Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). The primary cause of the disease is usually a mutation of the mitochondrial genome (mtDNA) causing a single amino acid exchange in one of the mtDNA-encoded subunits of NADH:ubiquinone oxidoreductase, the first complex of the electron transport chain. It was thus obvious to accuse neuronal energy depletion as the most probable mediator of neuronal death. The group of Valerio Carelli and other authors have nicely shown that energy depletion shapes the cell fate in a LHON cybrid cell model. However, the cybrids used were osteosarcoma cells, which do not fully model neuronal energy metabolism. Although complex I mutations may cause oxidative stress, a potential pathogenetic role of the latter was less taken into focus. The hypothesis of bioenergetic failure does not provide a simple explanation for the relatively late disease onset and for the incomplete penetrance, which differs remarkably between genders. It is assumed that other genetic and environmental factors are needed in addition to the 'primary LHON mutations' to elicit RGC death. Relevant nuclear modifier genes have not been identified so far. The review discusses the unresolved problems of a pathogenetic hypothesis based on ATP decline and/or ROS-induced apoptosis in RGCs.

  4. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

    Science.gov (United States)

    George, Aman; Zand, Dina J; Hufnagel, Robert B; Sharma, Ruchi; Sergeev, Yuri V; Legare, Janet M; Rice, Gregory M; Scott Schwoerer, Jessica A; Rius, Mariana; Tetri, Laura; Gamm, David M; Bharti, Kapil; Brooks, Brian P

    2016-12-01

    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations. Copyright © 2016. Published by Elsevier Inc.

  5. Mutation Frequency and Spectrum of Mutations Vary at Different Chromosomal Positions of Pseudomonas putida

    Science.gov (United States)

    Juurik, Triinu; Ilves, Heili; Teras, Riho; Ilmjärv, Tanel; Tavita, Kairi; Ukkivi, Kärt; Teppo, Annika; Mikkel, Katren; Kivisaar, Maia

    2012-01-01

    It is still an open question whether mutation rate can vary across the bacterial chromosome. In this study, the occurrence of mutations within the same mutational target sequences at different chromosomal locations of Pseudomonas putida was monitored. For that purpose we constructed two mutation detection systems, one for monitoring the occurrence of a broad spectrum of mutations and transposition of IS element IS1411 inactivating LacI repressor, and another for detecting 1-bp deletions. Our results revealed that both the mutation frequency and the spectrum of mutations vary at different chromosomal positions. We observed higher mutation frequencies when the direction of transcription of the mutational target gene was opposite to the direction of replisome movement in the chromosome and vice versa, lower mutation frequency was accompanied with co-directional transcription and replication. Additionally, asymmetry of frameshift mutagenesis at homopolymeric and repetitive sequences during the leading and lagging-strand replication was found. The transposition frequency of IS1411 was also affected by the chromosomal location of the target site, which implies that regional differences in chromosomal topology may influence transposition of this mobile element. The occurrence of mutations in the P. putida chromosome was investigated both in growing and in stationary-phase bacteria. We found that the appearance of certain mutational hot spots is strongly affected by the chromosomal location of the mutational target sequence especially in growing bacteria. Also, artificial increasing transcription of the mutational target gene elevated the frequency of mutations in growing bacteria. PMID:23119042

  6. EGFR mutation frequency and effectiveness of erlotinib

    DEFF Research Database (Denmark)

    Weber, Britta; Hager, Henrik; Sorensen, Boe S

    2014-01-01

    OBJECTIVES: In 2008, we initiated a prospective study to explore the frequency and predictive value of epidermal growth factor receptor (EGFR) mutations in an unselected population of Danish patients with non-small cell lung cancer offered treatment with erlotinib, mainly in second-line. MATERIALS...... AND METHODS: Four hundred and eighty eight patients with advanced NSCLC were included. The mutation status was assessed using the cobas EGFR Mutation Test. Erlotinib was administrated (150 mg/d) until disease progression or unacceptable toxicities occurred. The primary endpoint was progression-free survival....... Secondary endpoints were overall survival and response. RESULTS: Biopsies were retrieved from 467 patients, and mutation results obtained for 462. We identified 57 (12%) patients with EGFR mutations: 33 exon 19 deletions, 13 exon 21 mutations, 5 exon 18 mutations, 3 exon 20 insertions, 1 exon 20 point...

  7. Mutation induction by ion beams in plants

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Atsushi [Japan Atomic Energy Research Inst., Takasaki, Gunma (Japan). Takasaki Radiation Chemistry Research Establishment

    2001-03-01

    The effect of ion beams such as C, He, and Ne ions was investigated on the mutation induction in plants with the expectation that ion beams of high linear energy transfer (LET) can frequently produce large DNA alternation such as inversion, translocation and large deletion rather than point mutation. Mutation frequency was investigated using Arabidopsis visible phenotype loci and was 8 to 33 fold higher for 220 MeV carbon ions than for electrons. Mutation spectrum was investigated on the flower color of chrysanthemum cv to find that flower mutants induced by ion beams show complex and stripe types rather than single color. Polymerase chain reaction analysis was performed to investigate DNA alteration of mutations. In conclusion, the characteristics of ion beams for the mutation induction are 1) high frequency, 2) broad mutation spectrum, and 3) novel mutants. (S. Ohno)

  8. Referential alarm calling behaviour in New World primates

    Directory of Open Access Journals (Sweden)

    Cristiane CÄSAR, Klaus ZUBERBÜHLER

    2012-10-01

    Full Text Available There is relatively good evidence that non-human primates can communicate about objects and events in their environment in ways that allow recipients to draw inferences about the nature of the event experienced by the signaller. In some species, there is also evidence that the basic semantic units are not individual calls, but call sequences and the combinations generated by them. These two findings are relevant to theories pertaining to the origins of human language because of the resemblances of these phenomena with linguistic reference and syntactic organisation. Until recently, however, most research efforts on the primate origins of human language have involved Old World species with comparatively few systematic studies on New World monkeys, which has prevented insights into the deeper phylogenetic roots and evolutionary origins of language-relevant capacities. To address this, we review the older primate literature and very recent evidence for functionally referential communication and call combinations in New World primates. Within the existing literature there is ample evidence in both Callitrichids and Cebids for acoustically distinct call variants given to external disturbances that are accompanied by distinct behavioural responses. A general pattern is that one call type is typically produced in response to a wide range of general disturbances, often on the ground but also including inter-group encounters, while another call type is produced in response to a much narrower range of aerial threats. This pattern is already described for Old World monkeys and Prosimians, suggesting an early evolutionary origin. Second, recent work with black-fronted titi monkeys has produced evidence for different alarm call sequences consisting of acoustically distinct call types. These sequences appear to encode several aspects of the predation event simultaneously, notably predator type and location. Since meaningful call sequences have already been

  9. Oncogene mutational profile in nasopharyngeal carcinoma

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    Zhang ZC

    2014-03-01

    Full Text Available Zi-Chen Zhang,1,* Sha Fu,1,* Fang Wang,1 Hai-Yun Wang,1 Yi-Xin Zeng,2 Jian-Yong Shao11Department of Molecular Diagnostics, 2Department of Experimental Research, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, Guangzhou, People's Republic of China *These authors contributed equally to this work Abstract: Nasopharyngeal carcinoma (NPC is a common tumor in Southern China, but the oncogene mutational status of NPC patients has not been clarified. Using time-of-flight mass spectrometry, 238 mutation hotspots in 19 oncogenes were examined in 123 NPC patients. The relationships between mutational status and clinical data were assessed with a χ2 or Fisher's exact test. Survival analysis was performed using the Kaplan–Meier method with the log-rank test. In 123 patients, 21 (17.1% NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%, five NRAS mutations (4.1%, four KIT mutations (3.3%, two PDGFRA mutations (1.6%, two ABL mutations (1.6%, and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%. Patients with mutations were more likely to relapse or develop metastasis than those with wild-type alleles (P=0.019. No differences or correlations were found in other clinical characteristics or in patient survival. No mutations were detected in oncogenes AKT1, AKT2, CDK, ERBB2, FGFR1, FGFR3, FLT3, JAK2, KRAS, MET, and RET. These results demonstrate an association between NPC and mutations in NRAS, KIT, PIK3CA, PDGFRA, and ABL, which are associated with patient relapse and metastasis. Keywords: NPC, oncogene, mutation

  10. Exome sequencing identifies ZNF644 mutations in high myopia.

    Directory of Open Access Journals (Sweden)

    Yi Shi

    2011-06-01

    Full Text Available Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644 was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE. Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.

  11. Diseases caused by mutations in ORAI1 and STIM1

    Science.gov (United States)

    Lacruz, Rodrigo S.; Feske, Stefan

    2015-01-01

    Ca2+ release-activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx called store-operated Ca2+ entry (SOCE) that contributes to the function of many cell types. CRAC channels are formed by ORAI1 proteins located in the plasma membrane, which form its ion-conducting pore. ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum. Loss- and gain-of-function gene mutations in ORAI1 and STIM1 in human patients cause distinct disease syndromes. CRAC channelopathy is caused by loss-of-function mutations in ORAI1 and STIM1 that abolish CRAC channel function and SOCE; it is characterized by severe combined immunodeficiency (SCID)-like disease, autoimmunity, muscular hypotonia, and ectodermal dysplasia, with defects in dental enamel. The latter defect emphasizes an important role of CRAC channels in tooth development. By contrast, autosomal dominant gain-of-function mutations in these genes result in constitutive CRAC channel activation, SOCE, and increased intracellular Ca2+ levels that are associated with an overlapping spectrum of diseases, including non-syndromic tubular aggregate myopathy (TAM) and York platelet and Stormorken syndromes, two syndromes defined, besides myopathy, by thrombocytopenia, thrombopathy, and bleeding diathesis. The fact that myopathy results from loss- and gain-of-function mutations in ORAI1 and STIM1 highlights the importance of CRAC channels for Ca2+ homeostasis in skeletal muscle function. The cellular dysfunction and clinical disease spectrum observed in mutant patients provide important information about the molecular regulation of ORAI1 and STIM1 proteins and the role of CRAC channels in human physiology. PMID:26469693

  12. [Pain and analgesia : Mutations of voltage-gated sodium channels].

    Science.gov (United States)

    Eberhardt, M J; Leffler, A

    2017-02-01

    Voltage-gated sodium channels (Navs) are crucial for the generation and propagation of action potentials in all excitable cells, and therefore for the function of sensory neurons as well. Preclinical research over the past 20 years identified three Nav-isoforms in sensory neurons, namely Nav1.7, Nav1.8 and Nav1.9. A specific role for the function of nociceptive neurons was postulated for each. Whereas no selective sodium channel inhibitors have been established in the clinic so far, the relevance of all three isoforms regarding the pain sensitivity in humans is currently undergoing a remarkable verification through the translation of preclinical data into clinically manifest pictures. For the last ten years, Nav1.7 has been the main focus of clinical interest, as a large number of hereditary mutants were identified. The so-called "gain-of-function" mutations of Nav1.7 cause the pain syndromes hereditary erythromelalgia and paroxysmal extreme pain disorder. In addition, several Nav1.7 mutants were shown to be associated with small-fiber neuropathies. On the contrary, "loss-of-function" Nav1.7 mutants lead to a congenital insensitivity to pain. Recently, several gain-of-function mutations in Nav1.8 and Nav1.9 have been identified in patients suffering from painful peripheral neuropathies. However, another gain-of-function Nav1.9 mutation is associated with congenital insensitivity to pain. This review offers an overview of published work on painful Nav mutations with clinical relevance, and proposes possible consequences for the therapy of different pain symptoms resulting from these findings.

  13. Calls for Tender and Market Surveys Roles and Procedures

    CERN Document Server

    Annila, L

    2000-01-01

    ST division has implemented certain procedures to handle the calls for tender and market surveys. In January 1998, the division leader set up the 'call-for-tender co-ordination office' to check and approve each technical document leaving the division. The mandate of the call-for-tender co-ordination office is to check the quality of the documents, in order for these documents to be as clear as possible in terms of both content and structure. The role of this office is to contribute positively and give service to the people writing the documents, and not to give negative criticism. The aim of this paper is to present the mandate of the office, how papers are processed, and to draw up a first result summary.

  14. Investigating Call Drops with Field Measurements on Commercial Mobile Phones

    DEFF Research Database (Denmark)

    Messina, Alessandro; Caragea, Gabriel; Compta, Pol Torres

    2013-01-01

    One of the biggest problems nowadays for network operators are occurring call drops. This problem has been increasing in the last years specially since the advent of 3G. The investigation in the operator's network is very time intensive and due to the highly priced hardware only a few measurements...... can be done per day. In this paper we present a new methodology to investigate call drops by using mobile phones to do the measurements following the concept of citizen sensing. Therefore, a mobile application for Android is made that collects all necessary data and dumps the measurement results...... in a centralized database where the measurements are evaluated and represented on Google Maps. With a post analysis of the measurements, a classification of the call drops results is made. The collected data is also used to show some statistics related to the battery level and the received signal strength between...

  15. Mental, physical and social health problems of call centre workers

    Directory of Open Access Journals (Sweden)

    P Bhuyar

    2008-01-01

    Full Text Available Background: Call centre workers in BPO face unique occupational hazards - mental, physical and psychosocial. Material & Method: A sample 100 call centre workers of both sexes and from two cities Pune and Mumbai were surveyed by both qualitative and quantitative methods for the above health problems. Results: A high proportion of workers faced sleep disturbances and associated mental stress and anxiety. Sleep disturbance and anxiety was significantly more in international call centres compared to domestic. There was also disturbance in circadian rhythms due to night shift. Physical problems such as musculoskeletal disorders, obesity, eye, and hearing problems were also present. Psychosocial problems included disruption in family life, use of tobacco and alcohol, and faulty eating habits. Conclusion: Better personal management, health education and more research is indicated to study the health problems in this emerging occupation.

  16. High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects

    DEFF Research Database (Denmark)

    Frederiksen, Anja Lisbeth; Jeppesen, Tina Dysgaard; Vissing, John

    2009-01-01

    INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various...... combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A>G mutation-positive subjects. The 3243A>G mutation coexists in cells with wild-type mtDNA, a phenomenon called heteroplasmy. The marked variability in mutation loads in different tissues is the main explanation...... for the different phenotypes associated with this mutation. AIM: The aim of the study was to screen asymptomatic and oligosymptomatic 3243A>G mtDNA carriers for diabetes and myopathy. METHODS: The study is a case-control study. Nineteen adult 3243A>G carriers presumed to be normoglycemic and matched healthy...

  17. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.

    Science.gov (United States)

    Rosé, Carlos D; Doyle, Trudy M; McIlvain-Simpson, Gail; Coffman, Jessica E; Rosenbaum, James T; Davey, Michael P; Martin, Tammy M

    2005-02-01

    Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family history. Blau syndrome is an autosomal dominant inherited disease and is known to be caused by mutations in the CARD15 gene (also called NOD2). We investigated the hypothesis that an individual with sporadic early onset granulomatous arthritis may have a Blau syndrome mutation in CARD15/NOD2. Our patient's genomic DNA isolated from a buccal swab sample was subjected to amplification to include the region of exon 4 from the CARD15/NOD2 gene that contains known mutations that cause Blau syndrome. This region was screened for mutations by direct DNA sequencing in both directions. One of the mutations in CARD15/NOD2 attributed to Blau syndrome was found in the DNA sample. The nucleotide change encodes an amino acid substitution from arginine to tryptophan at position 334 of the protein. This mutation has been found in some Blau syndrome pedigrees reported in the literature. These data suggest that sporadic granulomatous arthritis may in fact be the sporadic form of Blau syndrome, but arising from a spontaneous neomutation. This would explain the profound clinical identity and the lack of disease history in the parents.

  18. Swarm satellite mission scheduling & planning using Hybrid Dynamic Mutation Genetic Algorithm

    Science.gov (United States)

    Zheng, Zixuan; Guo, Jian; Gill, Eberhard

    2017-08-01

    Space missions have traditionally been controlled by operators from a mission control center. Given the increasing number of satellites for some space missions, generating a command list for multiple satellites can be time-consuming and inefficient. Developing multi-satellite, onboard mission scheduling & planning techniques is, therefore, a key research field for future space mission operations. In this paper, an improved Genetic Algorithm (GA) using a new mutation strategy is proposed as a mission scheduling algorithm. This new mutation strategy, called Hybrid Dynamic Mutation (HDM), combines the advantages of both dynamic mutation strategy and adaptive mutation strategy, overcoming weaknesses such as early convergence and long computing time, which helps standard GA to be more efficient and accurate in dealing with complex missions. HDM-GA shows excellent performance in solving both unconstrained and constrained test functions. The experiments of using HDM-GA to simulate a multi-satellite, mission scheduling problem demonstrates that both the computation time and success rate mission requirements can be met. The results of a comparative test between HDM-GA and three other mutation strategies also show that HDM has outstanding performance in terms of speed and reliability.

  19. Evidence that adaptation in Drosophila is not limited by mutation at single sites.

    Directory of Open Access Journals (Sweden)

    Talia Karasov

    2010-06-01

    Full Text Available Adaptation in eukaryotes is generally assumed to be mutation-limited because of small effective population sizes. This view is difficult to reconcile, however, with the observation that adaptation to anthropogenic changes, such as the introduction of pesticides, can occur very rapidly. Here we investigate adaptation at a key insecticide resistance locus (Ace in Drosophila melanogaster and show that multiple simple and complex resistance alleles evolved quickly and repeatedly within individual populations. Our results imply that the current effective population size of modern D. melanogaster populations is likely to be substantially larger (> or = 100-fold than commonly believed. This discrepancy arises because estimates of the effective population size are generally derived from levels of standing variation and thus reveal long-term population dynamics dominated by sharp--even if infrequent--bottlenecks. The short-term effective population sizes relevant for strong adaptation, on the other hand, might be much closer to census population sizes. Adaptation in Drosophila may therefore not be limited by waiting for mutations at single sites, and complex adaptive alleles can be generated quickly without fixation of intermediate states. Adaptive events should also commonly involve the simultaneous rise in frequency of independently generated adaptive mutations. These so-called soft sweeps have very distinct effects on the linked neutral polymorphisms compared to the standard hard sweeps in mutation-limited scenarios. Methods for the mapping of adaptive mutations or association mapping of evolutionarily relevant mutations may thus need to be reconsidered.

  20. Making judgment calls. The ultimate act of leadership.

    Science.gov (United States)

    Tichy, Noel M; Bennis, Warren G

    2007-10-01

    According to the traditional view, judgment is an event: You make a decision and then move on. Yet Tichy, of the University of Michigan's Ross School of Business, and Bennis, of the University of Southern California's Marshall School of Business, found that good leadership judgment occurs not in a single moment but throughout a process. From their research into the complex phenomenon of leadership judgment, the authors also found that most important judgment calls reside in one of three domains: people, strategy, and crisis. Understanding the essence of leadership judgment is crucial. A leader's calls determine an organization's success or failure and deliver the verdict on his or her career. The first phase of the judgment process is preparation--identifying and framing the issue that demands a decision and aligning and mobilizing key stakeholders. Second is the call itself, And third is acting on the call, learning and adjusting along the way. Good leaders use a "story line"--an articulation of a company's identity, direction, and values--to inform their actions throughout the judgment process. Boeing CEO Jim McNerney, for instance, focused on a story line of Boeing as a world-class competitor and ethical leader to make a judgment call that launched the company's recovery from a string of ethical crises. Good leaders also take advantage of "redo loops" throughout the process, reconsidering the parameters of the decision, relabeling the problem, and redefining the goal in a way that more and more people can accept. Procter & Gamble's A.G. Lafley and Best Buy's Brad Anderson have both used redo loops--in preparation and execution, respectively--to strengthen not only support for their calls but also the outcomes.

  1. Using poison center exposure calls to predict methadone poisoning deaths.

    Directory of Open Access Journals (Sweden)

    Nabarun Dasgupta

    Full Text Available PURPOSE: There are more drug overdose deaths in the Untied States than motor vehicle fatalities. Yet the US vital statistics reporting system is of limited value because the data are delayed by four years. Poison centers report data within an hour of the event, but previous studies suggested a small proportion of poisoning deaths are reported to poison centers (PC. In an era of improved electronic surveillance capabilities, exposure calls to PCs may be an alternate indicator of trends in overdose mortality. METHODS: We used PC call counts for methadone that were reported to the Researched Abuse, Diversion and Addiction-Related Surveillance (RADARS® System in 2006 and 2007. US death certificate data were used to identify deaths due to methadone. Linear regression was used to quantify the relationship of deaths and poison center calls. RESULTS: Compared to decedents, poison center callers tended to be younger, more often female, at home and less likely to require medical attention. A strong association was found with PC calls and methadone mortality (b=0.88, se=0.42, t=9.5, df=1, p<0.0001, R(2 =0.77. These findings were robust to large changes in a sensitivity analysis assessing the impact of underreporting of methadone overdose deaths. CONCLUSIONS: Our results suggest that calls to poison centers for methadone are correlated with poisoning mortality as identified on death certificates. Calls received by poison centers may be used for timely surveillance of mortality due to methadone. In the midst of the prescription opioid overdose epidemic, electronic surveillance tools that report in real-time are powerful public health tools.

  2. Anthropogenic noise alters dwarf mongoose responses to heterospecific alarm calls.

    Science.gov (United States)

    Morris-Drake, Amy; Bracken, Anna M; Kern, Julie M; Radford, Andrew N

    2017-04-01

    Anthropogenic noise is an evolutionarily novel and widespread pollutant in both terrestrial and aquatic habitats. Despite increasing evidence that the additional noise generated by human activities can affect vocal communication, the majority of research has focused on the use of conspecific acoustic information, especially sexual signals. Many animals are known to eavesdrop on the alarm calls produced by other species, enhancing their likelihood of avoiding predation, but how this use of heterospecific information is affected by anthropogenic noise has received little empirical attention. Here, we use two field-based playback experiments on a habituated wild population of dwarf mongooses (Helogale parvula) to determine how anthropogenic noise influences the response of foragers to heterospecific alarm calls. We begin by demonstrating that dwarf mongooses respond appropriately to the alarm calls of sympatric chacma baboons (Papio ursinus) and tree squirrels (Paraxerus cepapi); fleeing only to the latter. We then show that mongoose foragers are less likely to exhibit this flee response to tree squirrel alarm calls during road-noise playback compared to ambient-sound playback. One explanation for the change in response is that noise-induced distraction or stress result in maladaptive behaviour. However, further analysis revealed that road-noise playback results in increased vigilance and that mongooses showing the greatest vigilance increase are those that do not subsequently exhibit a flee response to the alarm call. These individuals may therefore be acting appropriately: if the greater gathering of personal information indicates the absence of an actual predator despite an alarm call, the need to undertake costly fleeing behaviour can be avoided. Either way, our study indicates the potential for anthropogenic noise to interfere with the use of acoustic information from other species, and suggests the importance of considering how heterospecific networks are

  3. "Cold calling" in psychiatric follow up studies: is it justified?

    Science.gov (United States)

    Tyrer, P; Seivewright, H; Ferguson, B; Johnson, T

    2003-08-01

    The ethics of cold calling-visiting subjects at home without prior appointment agreed-in follow up research studies has received little attention although it is perceived to be quite common. We examined the ethical implications of cold calling in a study of subjects with defined neurotic disorders followed up 12 years after initial assessment carried out to determine outcome in terms of symptoms, social functioning, and contact with health services. The patients concerned were asked at original assessment if they would agree to be followed up subsequently and although they agreed no time limit was put on this. To decide if cold calling was ethically justifiable and, if so, to set guidelines for researchers. The study was a cohort study of patients with neurotic disorder treated initially for 10 weeks in a randomised controlled trial. At follow up by a research medical practitioner 18 of the 210 patients had died and of the remaining 192 patients 186 (97%) were seen or had a telephone interview. Four patients refused and two others did not have interviews but agreed to some data being obtained. However, only 104 patients (54%) responded to letters inviting them to make an appointment or to refuse contact and the remainder were followed up by cold calling, with most patients agreeing readily to the research interview. The findings illustrate the dilemma of the need to get the maximum possible data from such studies to achieve scientific validity (and thereby justify the ethics of the study) and the protection of subjects' privacy and autonomy. More attention needs to be paid to consent procedures if cold calling is to be defended on ethical grounds but it is unreasonable to expect this to be obtained at the beginning of a research study in a way that satisfies the requirements for informed consent. A suggested way forward is to obtain written consent for the research at the time that cold calling takes place before beginning the research.

  4. Penentuan Nilai Opsi Call Eropa Dengan Pembayaran Dividen

    Directory of Open Access Journals (Sweden)

    Diana Purwandari

    2016-08-01

    Full Text Available Fluktuasi harga saham menyebabkan perdagangan saham memiliki resiko. Opsi merupakan alternatif untuk mengurangi resiko dalam perdagangan saham. Opsi Eropa adalah suatu kontrak keuangan yang memberikan hak, bukan kewajiban, kepada holder, untuk membeli atau menjual aset pokok dari writer pada saat jatuh tempo dengan harga yang sudah ditentukan. Model penilaian harga opsi yang banyak diterima dalam bidang finansial adalah model Black-Scholes. Tujuan dari penelitian ini adalah mengetahui pengaruh pembagian dividen terhadap harga saham dan menentukan nilai opsi call Eropa dengan pembayaran dividen pada waktu yang telah ditentukan. Nilai opsi call Eropa dengan pembayaran dividen pada waktu yang telah ditentukan diperoleh menggunakan integrasi numerik dengan metode Simpson sebesar 12,6388.Kata kunci: opsi call Eropa, model Black-Scholes, dividen, metode Simpson.ABSTRACT Fluctuations in stock prices lead stock trading risk. An alternative options to reduce the risk in stock trading. European option is a financial contract that gives the right, but not the obligation, to the holder, to buy or sell the underlying asset of the writer at the maturity date at a price specified. Option price valuation models are widely accepted in the field of finance is the Black-Scholes model. The purpose of this study is to determine the effect of dividend distribution to the stock price and determine the value of the European call option with dividend payments at a predetermined time. Value of the European call option with dividend payments at a predetermined time obtained using numerical integration with Simpson method of 12,6388.Key words: European call options, Black-Scholes model, dividend, Simpson method.

  5. Basket call option pricing for CCVG using sparse grids

    KAUST Repository

    Crocce, Fabian

    2016-01-06

    The use of processes with jumps to overcome the shortcomings of the classical Black and Scholes when modelling stock prices has became very popular. One of the best-known models is the Common Clock Variance Gamma model (CCVG), introduced by Madan and Seneta in the 1990 [3]. We propose a method to price European basket call options modelled by the CCVG. The method could be extended to other model obtained by the subordination of a multidimensional Brownian motion and to more general options. To simplify the expositions we consider calls under the CCVG.

  6. Executing application function calls in response to an interrupt

    Science.gov (United States)

    Almasi, Gheorghe; Archer, Charles J.; Giampapa, Mark E.; Gooding, Thomas M.; Heidelberger, Philip; Parker, Jeffrey J.

    2010-05-11

    Executing application function calls in response to an interrupt including creating a thread; receiving an interrupt having an interrupt type; determining whether a value of a semaphore represents that interrupts are disabled; if the value of the semaphore represents that interrupts are not disabled: calling, by the thread, one or more preconfigured functions in dependence upon the interrupt type of the interrupt; yielding the thread; and if the value of the semaphore represents that interrupts are disabled: setting the value of the semaphore to represent to a kernel that interrupts are hard-disabled; and hard-disabling interrupts at the kernel.

  7. Exploring antecedents and consequences of burnout in a call centre

    Directory of Open Access Journals (Sweden)

    Willie A. Visser

    2008-11-01

    Full Text Available The aim of this study was to investigate the relationship between six characteristics of call centre work environments, burnout, affective commitment and turnover intentions. These characteristics were competing management goals, work overload, electronic performance monitoring, lack of career opportunities, lack of skill variety and emotional labour. A convenient sample of employees (N = 146 was obtained from a call centre. Multiple regression analysis showed that work overload, lack of career opportunities, skill variety and emotional labour were the most important predictors of burnout. Burnout had a direct effect on turnover intentions. Affective commitment partially mediated the relationship between burnout and turnover intention.

  8. Spatio-Temporal Analysis of Suicide-Related Emergency Calls

    Directory of Open Access Journals (Sweden)

    Miriam Marco

    2017-07-01

    Full Text Available Considerable effort has been devoted to incorporate temporal trends in disease mapping. In this line, this work describes the importance of including the effect of the seasonality in a particular setting related with suicides. In particular, the number of suicide-related emergency calls is modeled by means of an autoregressive approach to spatio-temporal disease mapping that allows for incorporating the possible interaction between both temporal and spatial effects. Results show the importance of including seasonality effect, as there are differences between the number of suicide-related emergency calls between the four seasons of each year.

  9. Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.

    Science.gov (United States)

    Mårtensson, A; Letelier, A; Halldén, C; Ljung, R

    2016-05-01

    Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is important in genetic counselling, prenatal diagnosis and to predict risk of inhibitor development. To study the mutation spectrum, frequency of unique recurrent mutations, genotype-phenotype association and inhibitor development in a population-based study of the complete Swedish haemophilia B population. The study included, facilitated by centralized DNA diagnostics, the complete registered Swedish haemophilia B population (113 families: 47 severe, 22 moderate and 44 mild), each represented by a single patient. Mutation characterization was performed by conventional sequencing of all exons and haplotyping by genotyping of single nucleotide variants and microsatellites. A mutation was found in every family: eight had large deletions, three had small deletions (mutations were found and were predicted to be deleterious. Sixteen mutations (one total gene deletion, 14 substitutions and one acceptor splice site) were present in more than one family. Of the single nucleotide mutations (37/102), 36% arose at CpG sites. Haplotyping of families with identical mutations and present analyses showed that the frequency of unique mutations was at least 65%. Inhibitors developed in 9/47 (19%) patients with severe haemophilia B. The spectrum of haemophilia B mutations reveals at least 65% of the families carry a unique mutation, but with more inhibitor patients than reported internationally, probably as a result of many 'null' mutations. © 2015 John Wiley & Sons Ltd.

  10. Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation.

    Science.gov (United States)

    Peng, Liang; Song, Zhigang; Jiao, Shunchang

    2015-01-01

    Non-small-cell lung cancer with epidermal growth factor receptor (EGFR) mutation is sensitive to EGFR tyrosine kinase inhibitors (TKIs). But little is known about the response to EGFR TKIs and the prognostic role of compound mutations. This study compared the uncommon EGFR exon 21 L858R compound mutations with single mutation to characterize EGFR compound mutations and investigated their response to EGFR TKI treatment. We retrospectively screened 799 non-small-cell lung cancer patients from August 1, 2009 to June 1, 2012 by EGFR mutation testing. EGFR mutations were detected in 443 patients, with 22 (4.97%) compound mutations. Subsequently, six patients with EGFR exon 21 L858R compound mutations and 18 paired patients with single L858R mutation were well characterized. Finally, we also analyzed the EGFR TKI treatment response and patients' outcomes of compound or single L858R mutations. There was no differential treatment effect on the disease control rate and objective response rate between the L858R compound mutations and single mutation groups. No significant difference in overall survival or progression-free survival of these two groups was found by log-rank test. In conclusion, we demonstrated that no significant difference was detected in the response to EGFR TKIs and patients' outcomes in the compound and single mutation groups.

  11. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

    Science.gov (United States)

    Kwak, Jae Eun; Son, Mi-Young; Son, Ye Seul; Son, Myung Jin; Cho, Yee Sook

    2015-02-20

    Lysosomes are cytoplasmic compartments that contain many acid hydrolases and play critical roles in the metabolism of a wide range of macromolecules. Deficiencies in lysosomal enzyme activities cause genetic diseases, called lysosomal storage disorders (LSDs). Many mutations have been identified in the genes responsible for LSDs, and the identification of mutations is required for the accurate molecular diagnoses. Here, we analyzed cell lines that were derived from two different LSDs, GM1 gangliosidosis and sialidosis. GM1 gangliosidosis is caused by mutations in the GLB1 gene that encodes β-galactosidase. A lack of β-galactosidase activity leads to the massive accumulation of GM1 ganglioside, which results in neurodegenerative pathology. Mutations in the NEU1 gene that encodes lysosomal sialidase cause sialidosis. Insufficient activity of lysosomal sialidase progressively increases the accumulation of sialylated molecules, and various clinical symptoms, including mental retardation, appear. We sequenced the entire coding regions of GLB1 and NEU1 in GM1 gangliosidosis and sialidosis patient cells, respectively. We found the novel mutations p.E186A in GLB1 and p.R347Q in NEU1, as well as many other mutations that have been previously reported. We also demonstrated that patient cells containing the novel mutations showed the molecular phenotypes of the corresponding disease. Further structural analysis suggested that these novel mutation sites are highly conserved and important for enzyme activity. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.

    Science.gov (United States)

    Ebner, Kathrin; Dafinger, Claudia; Ortiz-Bruechle, Nadina; Koerber, Friederike; Schermer, Bernhard; Benzing, Thomas; Dötsch, Jörg; Zerres, Klaus; Weber, Lutz Thorsten; Beck, Bodo B; Liebau, Max Christoph

    2017-07-01

    Autosomal recessive polycystic kidney disease (ARPKD) constitutes an important cause of pediatric end stage renal disease and is characterized by a broad phenotypic variability. The disease is caused by mutations in a single gene, Polycystic Kidney and Hepatic Disease 1 (PKHD1), which encodes a large transmembrane protein of poorly understood function called fibrocystin. Based on current knowledge of genotype-phenotype correlations in ARPKD, two truncating mutations are considered to result in a severe phenotype with peri- or neonatal mortality. Infants surviving the neonatal period are expected to carry at least one missense mutation. We report on a female patient with two truncating PKHD1 mutations who survived the first 30 months of life without renal replacement therapy. Our patient carries not only a known stop mutation, c.8011C>T (p.Arg2671*), but also the previously reported c.51A>G PKHD1 sequence variant of unknown significance in exon 2. Using functional in vitro studies we have confirmed the pathogenic nature of c.51A>G, demonstrating activation of a new donor splice site in intron 2 that results in a frameshift mutation and generation of a premature stop codon. This case illustrates the importance of functional mutation analyses and also raises questions regarding the current belief that the presence of at least one missense mutation is necessary for perinatal survival in ARPKD.

  13. Cataract mutations and lens development.

    Science.gov (United States)

    Graw, J

    1999-03-01

    The lens plays an essential role for proper eye development. Mouse mutants affecting lens development are excellent models for corresponding human disorders. Moreover, using mutations in particular genes the process of eye and lens development can be dissected into distinct steps. Therefore, three mouse mutants will be described in detail and discussed affecting three essential stages: formation of the lens vesicle, initiation of secondary lens fiber cell formation, and terminal differentiation of the secondary fiber cells. The mutant aphakia (ak) has been characterized by bilaterally apakic eyes [Varnum and Stevens (1968) J. Hered. 59, 147-150], and the corresponding gene was mapped to chromosome 19 [Varnum and Stevens (1975) Mouse News Letters 53, 35]. Recent investigations in our laboratory refined the linkage 0.6 +/- 0.3 N cm proximal to the microsatellite marker D19Mit10. The linked gene Pax2, responsible for proper development of the posterior part of the eye and the optic nerve, was excluded as candidate gene by sequence analysis. Histological analysis of the homozygous ak mutants revealed a persisting lens stalk and subsequently the formation of lens rudiments. The lens defects led to irregular iris development and retinal folding. Congenital aphakia is known as a rare human anomaly. Besides a corneal dystrophy (CDTB), no corresponding disease is localized at the homologous region of human chromosome 10q23. The Cat3 mutations are characterized by vacuolated lenses caused by alterations in the beginning of secondary lens fiber cell differentiation at embryonic day 12.5. Secondary malformations develop at the cornea and the iris, but the retina remains unaffected. Two mutant alleles of the Cat3 locus have been mapped to mouse chromosome 10 very close to the microsatellite markers D10Mit41 and D10Mit95 (less than 0.3 cM). Since Cat3 is mapped to a position, which is homologous to human chromosome 12q21-24, the disorder cornea plana congenita can be considered

  14. Impacts of mutation effects and population size on mutation rate in asexual populations: a simulation study

    Directory of Open Access Journals (Sweden)

    Huang Zhuoran

    2010-09-01

    Full Text Available Abstract Background In any natural population, mutation is the primary source of genetic variation required for evolutionary novelty and adaptation. Nevertheless, most mutations, especially those with phenotypic effects, are harmful and are consequently removed by natural selection. For this reason, under natural selection, an organism will evolve to a lower mutation rate. Overall, the action of natural selection on mutation rate is related to population size and mutation effects. Although theoretical work has intensively investigated the relationship between natural selection and mutation rate, most of these studies have focused on individual competition within a population, rather than on competition among populations. The aim of the present study was to use computer simulations to investigate how natural selection adjusts mutation rate among asexually reproducing subpopulations with different mutation rates. Results The competition results for the different subpopulations showed that a population could evolve to an "optimum" mutation rate during long-term evolution, and that this rate was modulated by both population size and mutation effects. A larger population could evolve to a higher optimum mutation rate than could a smaller population. The optimum mutation rate depended on both the fraction and the effects of beneficial mutations, rather than on the effects of deleterious ones. The optimum mutation rate increased with either the fraction or the effects of beneficial mutations. When strongly favored mutations appeared, the optimum mutation rate was elevated to a much higher level. The competition time among the subpopulations also substantially shortened. Conclusions Competition at the population level revealed that the evolution of the mutation rate in asexual populations was determined by both population size and mutation effects. The most striking finding was that beneficial mutations, rather than deleterious mutations, were the

  15. Dream Catchers: "Margin Call," "Boss," and Climbing the Beanstalk

    Science.gov (United States)

    Beck, Bernard

    2012-01-01

    Two recent popular entertainments, "Margin Call" (Barnum, Dodson, Jenckes, Moosa, Quinto & Chandor, 2011) and "Boss" (Safinia, 2011), depict powerful and successful groups of bosses confronting sudden, extreme threats. They are forced to react quickly and sacrifice important values to achieve survival of their organizations. In these emergencies,…

  16. 78 FR 31977 - NASA Asteroid Initiative Call for Ideas

    Science.gov (United States)

    2013-05-28

    ... SPACE ADMINISTRATION NASA Asteroid Initiative Call for Ideas AGENCY: National Aeronautics and Space... announces a public forum to provide a status on the agency's asteroid initiative planning and to encourage...: This meeting will be streamed live online. Viewing options will be posted at www.nasa.gov/asteroid...

  17. 78 FR 4369 - Rates for Interstate Inmate Calling Services

    Science.gov (United States)

    2013-01-22

    ... contact with loved ones also benefits those receiving the calls, including inmates' children, as inmates... Characteristics of ICS. The Commission has recognized that ICS differs from traditional payphone services in a... Proposal has provided sufficient cost, demand, and revenue detail to allow the Commission to determine...

  18. Genotype Calling from Population-Genomic Sequencing Data

    Science.gov (United States)

    Maruki, Takahiro; Lynch, Michael

    2017-01-01

    Genotype calling plays important roles in population-genomic studies, which have been greatly accelerated by sequencing technologies. To take full advantage of the resultant information, we have developed maximum-likelihood (ML) methods for calling genotypes from high-throughput sequencing data. As the statistical uncertainties associated with sequencing data depend on depths of coverage, we have developed two types of genotype callers. One approach is appropriate for low-coverage sequencing data, and incorporates population-level information on genotype frequencies and error rates pre-estimated by an ML method. Performance evaluation using computer simulations and human data shows that the proposed framework yields less biased estimates of allele frequencies and more accurate genotype calls than current widely used methods. Another type of genotype caller applies to high-coverage sequencing data, requires no prior genotype-frequency estimates, and makes no assumption on the number of alleles at a polymorphic site. Using computer simulations, we determine the depth of coverage necessary to accurately characterize polymorphisms using this second method. We applied the proposed method to high-coverage (mean 18×) sequencing data of 83 clones from a population of Daphnia pulex. The results show that the proposed method enables conservative and reasonably powerful detection of polymorphisms with arbitrary numbers of alleles. We have extended the proposed method to the analysis of genomic data for polyploid organisms, showing that calling accurate polyploid genotypes requires much higher coverage than diploid genotypes. PMID:28108551

  19. LVIF Call 2 - Innovations to improve livestock vaccines

    International Development Research Centre (IDRC) Digital Library (Canada)

    Musa Mulongo

    IDRC Call for Research Proposals: Livestock Vaccine Innovation Fund. 2017. 4 | P a g e will be successful. In addition, it is essential for research teams to demonstrate strong capacity to generate timely results based on specific milestones and within the allocated budget. It is important to emphasize that approaches ...

  20. Call for Expressions of Interest: Strengthening cyber policy centres ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    For the purpose of this call, cyber policy is defined as the broad area related to governing information or knowledge societies and includes issues related to innovation (such as intellectual property, telecommunications, infrastructure), security (related to national security, crime, surveillance), and human rights (such as the ...

  1. Analysis of Drop Call Probability in Well Established Cellular ...

    African Journals Online (AJOL)

    Technology in Africa has increased over the past decade. The increase in modern cellular networks requires stringent quality of service (QoS). Drop call probability is one of the most important indices of QoS evaluation in a large scale well-established cellular network. In this work we started from an accurate statistical ...

  2. Criteria for Evaluating a Game-Based CALL Platform

    Science.gov (United States)

    Ní Chiaráin, Neasa; Ní Chasaide, Ailbhe

    2017-01-01

    Game-based Computer-Assisted Language Learning (CALL) is an area that currently warrants attention, as task-based, interactive, multimodal games increasingly show promise for language learning. This area is inherently multidisciplinary--theories from second language acquisition, games, and psychology must be explored and relevant concepts from…

  3. Columbine's Challenge: A Call To Pay Attention to Our Students.

    Science.gov (United States)

    Stern, Robin; Repa, J. Theodore

    2001-01-01

    In response to incidences of school violence and pressure created by standards based education, the authors call for adults to pay close attention to the emotional lives of children they serve. Reminds us that emotional literacy is as critical to our children as mastering reading and writing. Offers suggestions for creating an emotionally…

  4. Musharraf calls for North-South cooperation: Science and technology

    CERN Multimedia

    2006-01-01

    "President Gen Pervez Musharraf has called for improved North-South cooperation in scinece and technology and said it would enable millions of people in the developing countries to realize the goal of rapid socio-economic progress" (1.5 page)

  5. 47 CFR 64.605 - Emergency calling requirements.

    Science.gov (United States)

    2010-10-01

    ... Customer Premises Equipment for Persons With Disabilities § 64.605 Emergency calling requirements. (a... emergency response or law enforcement personnel, and is used for the sole purpose of ascertaining a user's location in an emergency situation or for other emergency or law enforcement purposes. (b) E911 Service for...

  6. The use of Computer Assisted Language Learning (CALL) Devices ...

    African Journals Online (AJOL)

    Computer-Assisted Language Learning (CALL) is a relatively new and rapidly evolving academic field that explores the role of information and communication technologies in language learning and teaching. It has rapidly developed over the last forty years. This development can be categorized into three distinct phases: ...

  7. Tracking urban human activity from mobile phone calling patterns.

    Science.gov (United States)

    Monsivais, Daniel; Ghosh, Asim; Bhattacharya, Kunal; Dunbar, Robin I M; Kaski, Kimmo

    2017-11-01

    Timings of human activities are marked by circadian clocks which in turn are entrained to different environmental signals. In an urban environment the presence of artificial lighting and various social cues tend to disrupt the natural entrainment with the sunlight. However, it is not completely understood to what extent this is the case. Here we exploit the large-scale data analysis techniques to study the mobile phone calling activity of people in large cities to infer the dynamics of urban daily rhythms. From the calling patterns of about 1,000,000 users spread over different cities but lying inside the same time-zone, we show that the onset and termination of the calling activity synchronizes with the east-west progression of the sun. We also find that the onset and termination of the calling activity of users follows a yearly dynamics, varying across seasons, and that its timings are entrained to solar midnight. Furthermore, we show that the average mid-sleep time of people living in urban areas depends on the age and gender of each cohort as a result of biological and social factors.

  8. First Call for Concept Notes 2012-2013*

    International Development Research Centre (IDRC) Digital Library (Canada)

    IDRC CRDI

    grant all or none of the awards under this process. This call is open to Canadian organizations and individuals may not apply. Organizations should not apply for a project or activity that is centred on an individual (e.g. consultancies, sabbaticals…) or that act essentially as student or post-doctoral “awards”. Such individuals ...

  9. The advertisement call of Ameerega pulchripecta (Silverstone, 1976)(Anura, Dendrobatidae).

    Science.gov (United States)

    Costa-Campos, Carlos Eduardo; Lima, Albertina Pimentel; Amézquita, Adolfo

    2016-07-06

    The name Ameerega picta was once used to denote a lineage of poison frogs (Dendrobatidae) distributed throughout most of the Amazon basin (Silverstone 1976); more recently, to describe a phenetic group involving at least 18 species, Lötters et al. (2007) pointed out that some of the lineages were indeed derived from the former A. picta. Among them, the nominal species with the widest distribution is A. hahneli (Haddad & Martins 1994; Twomey & Brown 2008), also an alleged complex of poorly defined species (Grant et al. 2006; Fouquet et al. 2007; Roberts et al. 2007). The mate-recognition signal, the advertisement call, was part of the evidence used to revalidate A. hahneli as a different species from A. picta. Although the advertisement call has been described for one or few individuals of other species in the group (Haddad & Martins 1994; Costa et al. 2006; Twomey & Brown 2008; Lötters et al. 2009), namely A. flavopicta, A. braccata and A. boehmei, and A. hahneli, we still lack a formal description for A. pulchripecta, the sister taxon of A. hahneli (Twomey & Brown 2008). Its call has been qualitatively described as similar to A. hahneli's call, but "deeper-voiced" (Lötters et al. 2007).

  10. Call for concept notes for research on gender equality and ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    7 août 2017 ... This call is open to teams of Myanmar-based researchers with expertise and experience in economics, public finance, gender, political science, and other related social sciences. The multi-disciplinary team is to be led by a local or international project leader within a consortium of local or international ...

  11. Factors Hindering the Integration of CALL in a Tertiary Institution

    Directory of Open Access Journals (Sweden)

    Izaham Shah Ismail

    2008-12-01

    Full Text Available The field of Computer Assisted Language Learning (CALL is a field that is constantly evolving as it is very much dependent on the advancement of computer technologies. With new technologies being invented almost every day, experts in the field are looking for ways to apply these new technologies in the language classroom. Despite that, teachers are said to be slow at adopting technology in their classrooms and language teachers, whether at schools or tertiary institutions, are no exception. This study attempts to investigate the factors that hinder ESL instructors at an institution of higher learning from integrating CALL in their lessons. Interviews were conducted with five ESL instructors and results revealed that factors which hinder them from integrating CALL in their teaching are universal factors such as knowledge in technology and pedagogy, computer facilities and resources, absence of exemplary integration of CALL, personal beliefs on language teaching, views on the role of a computers as teacher, and evaluation of learning outcomes.

  12. Acoustic Communication in Birds-Differences in Songs and Calls ...

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 8; Issue 6. Acoustic Communication in Birds - Differences in Songs and Calls, their Production and Biological Significance. Anil Kumar. General Article Volume 8 Issue 6 June 2003 pp 44-55 ...

  13. Probabilistic Anomaly Detection Based On System Calls Analysis

    Directory of Open Access Journals (Sweden)

    Przemysław Maciołek

    2007-01-01

    Full Text Available We present an application of probabilistic approach to the anomaly detection (PAD. Byanalyzing selected system calls (and their arguments, the chosen applications are monitoredin the Linux environment. This allows us to estimate “(abnormality” of their behavior (bycomparison to previously collected profiles. We’ve attached results of threat detection ina typical computer environment.

  14. Echolocation Call Structure of Fourteen Bat Species in Korea

    Directory of Open Access Journals (Sweden)

    Fukui, Dai

    2015-07-01

    Full Text Available The echolocation calls of bats can provide useful information about species that are generally difficult to observe in the field. In many cases characteristics of call structure can be used to identify species and also to obtain information about aspects of the bat's ecology. We describe and compare the echolocation call structure of 14 of the 21 bat species found in Korea, for most of which the ecology and behavior are poorly understood. In total, 1,129 pulses were analyzed from 93 echolocation call sequences of 14 species. Analyzed pulses could be classified into three types according to the pulse shape: FM/CF/FM type, FM type and FM/QCF type. Pulse structures of all species were consistent with previous studies, although geographic variation may be indicated in some species. Overall classification rate provided by the canonical discriminant analysis was relatively low. Especially in the genera Myotis and Murina, there are large overlaps in spectral and temporal parameters between species. On the other hand, classification rates for the FM/QCF type species were relatively high. The results show that acoustic monitoring could be a powerful tool for assessing bat activity and distribution in Korea, at least for FM/QCF and FM/CF/FM species.

  15. An Experimental Comparison of Remote Procedure Call and Group Communication

    NARCIS (Netherlands)

    Kaashoek, M.F.; Tanenbaum, A.S.; Verstoep, C.

    1992-01-01

    This paper suggests that a distributed system should support two communication paradigms: Remote Procedure Call (RPC) and group communication. The former is used for point-to-point communication; the latter is used for one-to-many communication. We demonstrate that group communication is an

  16. Inclusive Education National Research Advocacy Agenda: A Call to Action

    Science.gov (United States)

    Morningstar, Mary E.; Allcock, Heather C.; White, Julia M.; Taub, Deborah; Kurth, Jennifer A.; Gonsier-Gerdin, Jean; Ryndak, Diane L.; Sauer, Janet; Jorgensen, Cheryl M.

    2016-01-01

    The TASH Inclusive Education National Committee responded to Horner and Dunlap's call to ensure that future research integrates inclusive values with strong science by developing an inclusive education national research advocacy agenda. Qualitative methods were implemented to answer three questions: (a) "What is the state of inclusive…

  17. Callings, work role fit, psychological meaningfulness and work ...

    African Journals Online (AJOL)

    Our aim in this study was to investigate the relationships among a calling orientation, work role fit, psychological meaningfulness and work engagement of teachers in Zambia. A quantitative approach was followed and a cross-sectional survey was used. The sample (n = 150) included 75 basic and 75 secondary school ...

  18. Orangutan call communication and the puzzle of speech evolution

    NARCIS (Netherlands)

    Reis E Lameira, A.

    2013-01-01

    Speech is a human hallmark. However, its evolution is little understood. It remains largely unknown which features of the call communication of our closest relatives – great apes – may have constituted speech evolutionary feedstock. In this study, I investigate the extent to which speech building

  19. Call for submissions: Cultivate Africa's Future - Phase 2 | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2018-01-17

    Jan 17, 2018 ... Women and children pick green beans at the Dodicha Vegetable Cooperative in Ethiopia. K. Stefanova / USAID. The call for ... Driving vaccine innovations to improve lives and livelihoods. Five world-class research teams are working to develop vaccines for neglected livestock diseases in the Global South.

  20. An automated device for provoking and capturing wildlife calls

    Science.gov (United States)

    Ausband, David E.; Skrivseth, Jesse; Mitchell, Michael S.

    2011-01-01

    Some animals exhibit call-and-response behaviors that can be exploited to facilitate detection. Traditionally, acoustic surveys that use call-and-respond techniques have required an observer's presence to perform the broadcast, record the response, or both events. This can be labor-intensive and may influence animal behavior and, thus, survey results. We developed an automated acoustic survey device using commercially available hardware (e.g., laptop computer, speaker, microphone) and an author-created (JS) software program ("HOOT") that can be used to survey for any animal that calls. We tested this device to determine 1) deployment longevity, 2) effective sampling area, and 3) ability to detect known packs of gray wolves (Canis lupus) in Idaho, USA. Our device was able to broadcast and record twice daily for 6–7 days using the internal computer battery and surveyed an area of 3.3–17.5 km2 in relatively open habitat depending on the hardware components used. We surveyed for wolves at 2 active rendezvous sites used by closely monitored, radiocollared wolf packs and obtained 4 responses across both packs over 3 days of sampling. We confirmed reproduction in these 2 packs by detecting pup howls aurally from the resulting device recordings. Our device can broadcast and record animal calls and the computer software is freely downloadable. This automated survey device can be used to collect reliable data while reducing the labor costs traditionally associated with acoustic surveys.

  1. Call for concept notes for research on gender equality and ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2017-08-07

    Aug 7, 2017 ... The call seeks concept notes that examine innovative approaches to. address gender inequality in political participation; and; improve gender-sensitive budgeting and public service delivery. Interested in applying? If you are eligible for this opportunity we welcome you to submit an application. Apply now ...

  2. Physical Activity Promotion in Call Centres: Employers' Perspectives

    Science.gov (United States)

    Renton, Sheila J.; Lightfoot, Nancy E.; Maar, Marion A.

    2011-01-01

    This study followed a predominantly qualitative approach to explore the perspectives of employers in Sudbury, Ontario, Canada, call centres (CCs) regarding physical activity (PA) promotion in workplaces, by identifying current practices and employers' motivation to promote PA, as well as perceived facilitators and barriers. In-depth interviews…

  3. Calling songs of some South African cicadas (Homoptera: Cicadidae)

    African Journals Online (AJOL)

    1987-07-13

    Jul 13, 1987 ... frequency band width and emphasized frequency of the call were measured from the power spectra. Pulse rates were measured from wide band (300 Hz ... pulses. Narrow band sonagrams show a slight frequency modulation at a rate of 115 modulations/s, corresponding to groups of four double pulses in ...

  4. Mining of Business-Oriented Conversations at a Call Center

    Science.gov (United States)

    Takeuchi, Hironori; Nasukawa, Tetsuya; Watanabe, Hideo

    Recently it has become feasible to transcribe textual records from telephone conversations at call centers by using automatic speech recognition. In this research, we extended a text mining system for call summary records and constructed a conversation mining system for the business-oriented conversations at the call center. To acquire useful business insights from the conversational data through the text mining system, it is critical to identify appropriate textual segments and expressions as the viewpoints to focus on. In the analysis of call summary data using a text mining system, some experts defined the viewpoints for the analysis by looking at some sample records and by preparing the dictionaries based on frequent keywords in the sample dataset. However with conversations it is difficult to identify such viewpoints manually and in advance because the target data consists of complete transcripts that are often lengthy and redundant. In this research, we defined a model of the business-oriented conversations and proposed a mining method to identify segments that have impacts on the outcomes of the conversations and can then extract useful expressions in each of these identified segments. In the experiment, we processed the real datasets from a car rental service center and constructed a mining system. With this system, we show the effectiveness of the method based on the defined conversation model.

  5. Call for Expressions of Interest for capacity development of ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2017-07-24

    Jul 24, 2017 ... This call is part of the Knowledge for Democracy Myanmar initiative that intends to strengthen a select group of independent policy research institutions (think tanks) based in Myanmar, so as to enable these institutions to provide effective, objective, and high-quality research that informs and ultimately ...

  6. Reforming Initial Teacher Education: A Call for Innovation

    Science.gov (United States)

    Yeigh, Tony; Lynch, David

    2017-01-01

    A variety of public critiques, reports and government reviews into Initial Teacher Education (ITE) in Australia and globally have called for a rethink on teacher education. Similarly, key researchers such as Hattie (2011), Smith and Lynch (2010) and Ingvarson et al. (2014) have argued for new, innovative approaches to ITE that are able to provide…

  7. Responding to Suicidal Calls: Does Trait Anxiety Hinder or Help?

    Science.gov (United States)

    Brown, Marceline Moulin; Range, Lillian M.

    2005-01-01

    To see if trait anxiety and suicidality interfered with the ability to respond to suicidal crisis calls, 279 undergraduates completed measures of trait anxiety and suicidality in the past week, and the revised Suicide Intervention Response Inventory (SIRI-2). Unexpectedly, trait anxiety (but not suicidality) correlated with better SIRI-2 scores.…

  8. Is there such a Thing called Scientific Waste?

    NARCIS (Netherlands)

    H.P. van Dalen (Hendrik); A. Klamer (Arjo)

    2005-01-01

    textabstractScience is a winner-take-all profession in which only few contributions get excessive attention and the large majority of papers remains receives scant or no attention. This so-called ‘waste’ together with all the competitive strategies of scientists seeking attention is part and parcel

  9. Taking the Danish Speech Trainer from CALL to ICALL

    DEFF Research Database (Denmark)

    Juel Henrichsen, Peter

    2015-01-01

    Talebob (Speech Bob) is a newly developed interactive CALL-tool for training Danish speech with special regard to the pronunciation of highly idiomatic phrases. Talebob is currently being tested in primary schools in Nuuk, Hafnarfjörður and Tórshavn (where Danish is taught as a L2). The purpose o...

  10. Tracking urban human activity from mobile phone calling patterns.

    Directory of Open Access Journals (Sweden)

    Daniel Monsivais

    2017-11-01

    Full Text Available Timings of human activities are marked by circadian clocks which in turn are entrained to different environmental signals. In an urban environment the presence of artificial lighting and various social cues tend to disrupt the natural entrainment with the sunlight. However, it is not completely understood to what extent this is the case. Here we exploit the large-scale data analysis techniques to study the mobile phone calling activity of people in large cities to infer the dynamics of urban daily rhythms. From the calling patterns of about 1,000,000 users spread over different cities but lying inside the same time-zone, we show that the onset and termination of the calling activity synchronizes with the east-west progression of the sun. We also find that the onset and termination of the calling activity of users follows a yearly dynamics, varying across seasons, and that its timings are entrained to solar midnight. Furthermore, we show that the average mid-sleep time of people living in urban areas depends on the age and gender of each cohort as a result of biological and social factors.

  11. National Initiative on Undergraduate Science–Calling Scientists to ...

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 10; Issue 1. National Initiative on Undergraduate Science – Calling Scientists to visit HBCSE. Information and Announcements Volume 10 Issue 1 January 2005 pp 16-16. Fulltext. Click here to view fulltext PDF. Permanent link:

  12. Perspectives of Nurses and Patients on Call Light Technology.

    Science.gov (United States)

    Galinato, Jose; Montie, Mary; Patak, Lance; Titler, Marita

    2015-08-01

    Call lights are prevalent in inpatient healthcare facilities across the nation. While call light use directly influences the delivery of nursing care, there remain significant gaps both in research and technology that can affect the quality of care and patient satisfaction. This study examines nurse and patient perceptions of the use of a new call communication solution, Eloquence, in the acute care inpatient setting. Eighteen patients were recruited for the study and participated in individual semistructured interviews during their hospital stay. Eighteen nurses were recruited and participated in focus groups for this study. Qualitative descriptive methods were used to analyze the data. Results revealed themes of usability, improved communication, and suggestions for improvement to the alpha prototype design. After a demonstration of the use and capability of Eloquence, nurse and patient participants found Eloquence as a welcomed advancement in nurse call technology that has the potential to improve workflow and patient outcomes. In addition, the participants also proposed ideas on how to further develop the technology to improve its use.

  13. Toward an Ecological CALL: Update to Garrett (1991)

    Science.gov (United States)

    Lafford, Barbara A.

    2009-01-01

    This introduction to the 2009 "Modern Language Journal" Focus Issue uses the lens of an ecological perspective on the acquisition of second languages to provide additional insights into the contributions by various computer-assisted language learning (CALL) scholars to this update on Garrett (1991), "Technology in the service of language learning:…

  14. A Relational Account of Call-by-Value Sequentiality

    DEFF Research Database (Denmark)

    Riecke, Jon Gary; Sandholm, Anders Bo

    2002-01-01

    We construct a model for FPC, a purely functional, sequential, call-by-value language. The model is built from partial continuous functions, in the style of Plotkin, further constrained to be uniform with respect to a class of logical relations. We prove that the model is fully abstract....

  15. Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non-Small Cell Lung Cancer.

    Science.gov (United States)

    Castellanos, Emily; Feld, Emily; Horn, Leora

    2017-04-01

    EGFR-mutated NSCLC is a genetically heterogeneous disease that includes more than 200 distinct mutations. The implications of mutational subtype for both prognostic and predictive value are being increasingly understood. Although the most common EGFR mutations-exon 19 deletions or L858R mutations-predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs), it is now being recognized that outcomes may be improved in patients with exon 19 deletions. Additionally, 10% of patients will have an uncommon EGFR mutation, and response to EGFR TKI therapy is highly variable depending on the mutation. Given the growing recognition of the genetic and clinical variation seen in this disease, the development of comprehensive bioinformatics-driven tools to both analyze response in uncommon mutation subtypes and inform clinical decision making will be increasingly important. Clinical trials of novel EGFR TKIs should prospectively account for the presence of uncommon mutation subtypes in study design. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

  16. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.

    Science.gov (United States)

    Alibakhshi, Reza; Moradi, Keyvan; Mohebbi, Zahra; Ghadiri, Keyghobad

    2014-03-01

    Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a mutation in the phenylalanine hydroxylase (PAH) gene. Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. This study was designed to investigate the status of molecular defects in the PAH gene and their association with polymorphisms in Kurdish patients with PKU in the Kermanshah province, western Iran. The study was conducted on 27 unrelated patients with PKU over a 2-year period (from 2010 to 2012). All 13 exons plus exon-intron boundaries of the PAH gene were analyzed and we identified 15 different mutations, including two novel mutations, in 51 of the 54 mutant alleles (diagnostic efficiency of 94.4 %). IVS4 + 1G > C (c.441 + 1G > C) and IVS7 - 5 T > C (c.843 - 5 T > C) are novel mutations that have not been reported in the academic literature or the PAH locus database ( http://www.pahdb.mcgill.ca ); therefore, they may be specific to the Kurdish population. IVS2 + 5G > C and IVS9 + 5G > A were the two most prevalent mutations in our sample, with frequencies of 26 % and 17 %, respectively. The second most common mutations were p.R261X, IVS10 - 11G > A, p.K363 > Nfs and IVS7 - 5 T > C, with each showing a relative frequency of 7.4 %. All other detected mutations, including p.F55 > Lfs, p.R176X, p.R243Q, p.V230I, p.R243X, p.R261Q, IVS8 - 7A > G and p.E390G had frequencies of less than 4 %. The present study showed that there is a distinct difference in the characteristics of PAH mutations between the Kermanshah province and other parts of Iran, suggesting that Kermanshah may have a unique population distribution of PAH gene mutations. Iran lies on the route of major ancient movements of the Caucasian people toward the Mediterranean basin, and Kermanshah has previously been called the gateway to Asia. Most of the mutations identified in this study are common in the Mediterranean region. Therefore, our findings are consistent with the historical and

  17. Somatic mutations in aging, cancer and neurodegeneration.

    Science.gov (United States)

    Kennedy, Scott R; Loeb, Lawrence A; Herr, Alan J

    2012-04-01

    The somatic mutation theory of aging posits that the accumulation of mutations in the genetic material of somatic cells as a function of time results in a decrease in cellular function. In particular, the accumulation of random mutations may inactivate genes that are important for the functioning of the somatic cells of various organ systems of the adult, result in a decrease in organ function. When the organ function decreases below a critical level, death occurs. A significant amount of research has shown that somatic mutations play an important role in aging and a number of age related pathologies. In this review, we explore evidence for increases in somatic nuclear mutation burden with age and the consequences for aging, cancer, and neurodegeneration. We then review evidence for increases in mitochondrial mutation burden and the consequences for dysfunction in the disease processes. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  18. Is The Ribosome Targeted By Adaptive Mutations

    DEFF Research Database (Denmark)

    Jimenez Fernandez, Alicia; Molin, Søren; Johansen, Helle Krogh

    2015-01-01

    degree of evolutionary conservation of the cellular MMSM tend to support this view. However, under certain selective conditions the machinery itself may be targeted by adaptive mutations, which result in fitness-increasing phenotypic changes. Here we investigate and characterize the role of ribosomal...... mutations in adaptive evolution. Methods: Several mutations in ribosomal genes have been identified in the genome analysis of nearly 700 Pseudomonas aeruginosa isolates from infected cystic fibrosis patients. Among these mutations we have repeatedly identified insertions, deletions and substitutions...... in specific ribosomal genes. The bacterial phenotypes of the mutated strains will be investigated. Results: Preliminary assays show that mutant strains have reduced growth rate and an altered antibiotic resistance pattern. The selection for mutations in ribosomal protein genes is partly explainable...

  19. Mitochondrial mutations drive prostate cancer aggression

    OpenAIRE

    Hopkins, Julia F.; Sabelnykova, Veronica Y; Weischenfeldt, Joachim; Simon, Ronald; Aguiar, Jennifer A.; Alkallas, Rached; Heisler, Lawrence E.; Zhang, Junyan; Watson, John D.; Chua, Melvin L. K.; Fraser, Michael; Favero, Francesco; Lawerenz, Chris; Plass, Christoph; Sauter, Guido

    2017-01-01

    Nuclear mutations are well known to drive tumor incidence, aggression and response to therapy. By contrast, the frequency and roles of mutations in the maternally inherited mitochondrial genome are poorly understood. Here we sequence the mitochondrial genomes of 384 localized prostate cancer patients, and identify a median of one mitochondrial single-nucleotide variant (mtSNV) per patient. Some of these mtSNVs occur in recurrent mutational hotspots and associate with aggressive disease. Young...

  20. A new mutation in blau syndrome.

    Science.gov (United States)

    Zeybek, Cengiz; Basbozkurt, Gokalp; Gul, Davut; Demirkaya, Erkan; Gok, Faysal

    2015-01-01

    Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2-13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.

  1. The Mutational Robustness of Influenza A Virus.

    Directory of Open Access Journals (Sweden)

    Elisa Visher

    2016-08-01

    Full Text Available A virus' mutational robustness is described in terms of the strength and distribution of the mutational fitness effects, or MFE. The distribution of MFE is central to many questions in evolutionary theory and is a key parameter in models of molecular evolution. Here we define the mutational fitness effects in influenza A virus by generating 128 viruses, each with a single nucleotide mutation. In contrast to mutational scanning approaches, this strategy allowed us to unambiguously assign fitness values to individual mutations. The presence of each desired mutation and the absence of additional mutations were verified by next generation sequencing of each stock. A mutation was considered lethal only after we failed to rescue virus in three independent transfections. We measured the fitness of each viable mutant relative to the wild type by quantitative RT-PCR following direct competition on A549 cells. We found that 31.6% of the mutations in the genome-wide dataset were lethal and that the lethal fraction did not differ appreciably between the HA- and NA-encoding segments and the rest of the genome. Of the viable mutants, the fitness mean and standard deviation were 0.80 and 0.22 in the genome-wide dataset and best modeled as a beta distribution. The fitness impact of mutation was marginally lower in the segments coding for HA and NA (0.88 ± 0.16 than in the other 6 segments (0.78 ± 0.24, and their respective beta distributions had slightly different shape parameters. The results for influenza A virus are remarkably similar to our own analysis of CirSeq-derived fitness values from poliovirus and previously published data from other small, single stranded DNA and RNA viruses. These data suggest that genome size, and not nucleic acid type or mode of replication, is the main determinant of viral mutational fitness effects.

  2. Prevalent mutations in prostate cancer.

    Science.gov (United States)

    Dong, Jin-Tang

    2006-02-15

    Quantitative and structural genetic alterations cause the development and progression of prostate cancer. A number of genes have been implicated in prostate cancer by genetic alterations and functional consequences of the genetic alterations. These include the ELAC2 (HPC2), MSR1, and RNASEL (HPC1) genes that have germline mutations in familial prostate cancer; AR, ATBF1, EPHB2 (ERK), KLF6, mitochondria DNA, p53, PTEN, and RAS that have somatic mutations in sporadic prostate cancer; AR, BRCA1, BRCA2, CHEK2 (RAD53), CYP17, CYP1B1, CYP3A4, GSTM1, GSTP1, GSTT1, PON1, SRD5A2, and VDR that have germline genetic variants associated with either hereditary and/or sporadic prostate cancer; and ANXA7 (ANX7), KLF5, NKX3-1 (NKX3.1), CDKN1B (p27), and MYC that have genomic copy number changes affecting gene function. More genes relevant to prostate cancer remain to be identified in each of these gene groups. For the genes that have been identified, most need additional genetic, functional, and/or biochemical examination. Identification and characterization of these genes will be a key step for improving the detection and treatment of prostate cancer. (c) 2005 Wiley-Liss, Inc.

  3. Mutational analysis of Bloom helicase.

    Science.gov (United States)

    Xi, Xu Guang

    2010-01-01

    DNA helicases are biomolecular motors that convert the chemical energy derived from the hydrolysis of nucleotide triphosphate (usually ATP) into mechanical energy to unwind double-stranded DNA. The unwinding of double-stranded DNA is an essential process for DNA replication, repair, recombination, and transcription. Mutations in human RecQ helicases result in inherent human disease including Bloom's syndrome, Werner's syndrome, and Rothmund-Thomson syndrome. Bloom's syndrome (BS) is a rare human autosomal recessive disorder characterized by a strong predisposition to a wide range of cancers commonly affecting the general population. In order to understand the molecular basis of BS pathology and the mechanism underlying the function of Bloom helicase, we have analyzed BS-causing missense mutations by a combination of structural modeling, site-directed mutagenesis, and biochemical and biophysical approaches. Here, we describe the methods and protocols for measuring ATPase, ATP and DNA binding, DNA strand annealing, and DNA unwinding activities of Bloom protein and its mutant variants. These approaches should be applicable and useful for studying other helicases.

  4. Copy number variation and mutation

    Science.gov (United States)

    Clark, Brian; Weidner, Jacob; Wabick, Kevin

    2009-11-01

    Until very recently, the standard model of DNA included two genes for each trait. This dated model has given way to a model that includes copies of some genes well in excess of the canonical two. Copy number variations in the human genome play critical roles in causing or aggravating a number of syndromes and diseases while providing increased resistance to others. We explore the role of mutation, crossover, inversion, and reproduction in determining copy number variations in a numerical simulation of a population. The numerical model consists of a population of individuals, where each individual is represented by a single strand of DNA with the same number of genes. Each gene is initially assigned to one of two traits. Fitness of the individual is determined by the two most fit genes for trait one, and trait two genetic material is treated as a reservoir of junk DNA. After a sufficient number of generations, during which the genetic distribution is allowed to reach a steady-state, the mean numberof genes per trait and the copy number variation are recorded. Here, we focus on the role of mutation and compare simulation results to theory.

  5. Mutational remodeling of enzyme specificity.

    Science.gov (United States)

    Bone, R; Agard, D A

    1991-01-01

    With the advent of genetic engineering techniques has come the ability to modify proteins as desired. Given this stunning capability, the question remains what residues should be altered, and how should they be changed to achieve a particular specificity pattern. The goals of such modifications are likely to fall into either of two categories: probing the function of a protein or attempting to alter its properties. In either case, our understanding of the consequences of a mutation, as ascertained by our ability to predict the results, is currently quite limited. The problem is extraordinarily complex; our understanding of how to calculate the energetics involved is still incomplete, and we are just beginning to accumulate experimental data which may help guide us. On the positive side, theoretical methods are now being developed and refined that should prove useful in the drive to engineer enzyme specificity. What may be most important at this juncture is to expand the experimental database interrelating sequence, function, and structure. That is, there should be a concerted effort to combine functional analysis of mutant proteins with structural analysis. Only from this combined examination of the effects of mutations can sufficient data be accumulated to test and improve both qualitative and quantitative approaches or methods for remodeling enzyme specificity.

  6. Target enzyme mutations are the molecular basis for resistance towards pharmacological inhibition of nicotinamide phosphoribosyltransferase

    DEFF Research Database (Denmark)

    Olesen, Uffe H; Petersen, Jakob G; Garten, Antje

    2010-01-01

    introduce an analogue of CHS-828 called TP201565 with increased potency in cellular assays. Further, we describe and characterize a panel of cell lines with acquired stable resistance towards several NAMPT inhibitors of 18 to 20,000 fold compared to their parental cell lines. RESULTS: We find that 4 out...... are competitive inhibitors of NAMPT and that acquired resistance towards NAMPT inhibitors can be expected primarily to be caused by mutations in NAMPT....

  7. A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    Science.gov (United States)

    Coelho, Ana I; Ramos, Ruben; Gaspar, Ana; Costa, Cláudia; Oliveira, Anabela; Diogo, Luísa; Garcia, Paula; Paiva, Sandra; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Cardoso, M Teresa; Ferreira, Elena; Sequeira, Sílvia; Leite, Margarida; Silva, Maria João; de Almeida, Isabel Tavares; Vicente, João B; Rivera, Isabel

    2014-01-01

    Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of clinical symptoms whose pathophysiology is poorly understood. The high allelic heterogeneity of GALT gene that characterizes this disorder is thought to play a determinant role in biochemical and clinical phenotypes. We aimed to characterize the mutational spectrum of GALT deficiency in Portugal and to assess potential genotype-phenotype correlations. Direct sequencing of the GALT gene and in silico analyses were employed to evaluate the impact of uncharacterized mutations upon GALT functionality. Molecular characterization of 42 galactosemic Portuguese patients revealed a mutational spectrum comprising 14 nucleotide substitutions: ten missense, two nonsense and two putative splicing mutations. Sixteen different genotypic combinations were detected, half of the patients being p.Q188R homozygotes. Notably, the second most frequent variation is a splicing mutation. In silico predictions complemented by a close-up on the mutations in the protein structure suggest that uncharacterized missense mutations have cumulative point effects on protein stability, oligomeric state, or substrate binding. One splicing mutation is predicted to cause an alternative splicing event. This study reinforces the difficulty in establishing a genotype-phenotype correlation in classic galactosemia, a monogenic disease whose complex pathogenesis and clinical features emphasize the need to expand the knowledge on this "cloudy" disorder.

  8. Complexity Theory and CALL Curriculum in Foreign Language Learning

    Directory of Open Access Journals (Sweden)

    Hassan Soleimani

    2014-05-01

    Full Text Available Complexity theory literally indicates the complexity of a system, behavior, or a process. Its connotative meaning, while, implies dynamism, openness, sensitivity to initial conditions and feedback, and adaptation properties of a system. Regarding English as a Foreign/ Second Language (EFL/ESL this theory emphasizes on the complexity of the process of teaching and learning, including all the properties of a complex system. The purpose of the current study is to discuss the role of CALL as a modern technology in simplifying the process of teaching and learning a new language while integrating into the complexity theory. Nonetheless, the findings obtained from reviewing previously conducted studies in this field confirmed the usefulness of CALL curriculum in EFL/ESL contexts. These findings can also provide pedagogical implications for employing computer as an effective teaching and learning tool.

  9. Restoring rape survivors: justice, advocacy, and a call to action.

    Science.gov (United States)

    Koss, Mary P

    2006-11-01

    Rape results in mental and physical health, social, and legal consequences. For the latter, restorative justice-based programs might augment community response, but they generate controversy among advocates and policy makers. This article identifies survivors' needs and existing community responses to them. Survivors feel their legal needs are most poorly met due to justice system problems that can be summarized as attrition, retraumatization, and disparate treatment across gender, class, and ethnic lines. Empirical data support each problem and the conclusion that present justice options are inadequate. The article concludes by identifying common ground in advocacy and restorative justice goals and calls for a holistic approach to the needs of rape survivors that includes advocating for expanded justice alternatives. A call to action is issued to implement restorative alternatives to expand survivor choice and offender accountability. Conventional and restorative justice are often viewed as mutually exclusive whereas the author argues they are complementary.

  10. A missense mutation in PMEL17 is associated with the Silver coat color in the horse

    Directory of Open Access Journals (Sweden)

    Cothran Gus

    2006-10-01

    Full Text Available Abstract Background The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype. Results Segregation data on the Silver locus (Z were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. We typed 41 genetic markers well spread over the horse genome, including one single microsatellite marker (TKY284 close to the candidate gene PMEL17 on horse chromosome 6 (ECA6q23. Significant linkage was found between the Silver phenotype and TKY284 (θ = 0, z = 9.0. DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a missense mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys. This mutation showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation. In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation. One additional mutation located in intron 9, only 759 bases from the missense mutation, also showed complete association with the Silver phenotype. However, as one could expect to find several non-causative mutations completely associated with the Silver mutation, we argue that the missense mutation is more likely to be causative. Conclusion The present study shows that PMEL17 causes the Silver coat color in the horse and

  11. APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

    Science.gov (United States)

    Andresen, Per Arne; Heimdal, Ketil; Aaberg, Kristin; Eklo, Katrine; Eklo, Kristin; Ariansen, Sarah; Silye, Alexandra; Fausa, Olav; Aabakken, Lars; Aretz, Stefan; Eide, Tor J; Gedde-Dahl, Tobias

    2009-10-01

    Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease caused by mutations in the adenomatous polyposis coli (APC) gene. Massive formation of colorectal adenomas, of which some will inevitably develop into adenocarcinomas, is the hallmark of the disease. Characterization of causative APC mutations allows presymptomatic diagnosis, close follow-up and prophylactic intervention in families. To date more than 900 different germline mutations have been characterized worldwide demonstrating allelic heterogeneity. The germline mutation spectrum of APC identified in 69 apparently unrelated Norwegian FAP families are presented and discussed with reference to clinical phenotype and novel mutation rate. Different methods have been used over the years. However, all mutations were confirmed detectable by an implemented denaturing high-performance liquid chromatography screening approach. Multiplex ligation-dependent probe amplification analysis was employed for potential gross rearrangements. Fifty-three distinctive mutations were detected, of which 22 have been detected in Norway exclusively. Except for two major deletion mutations encompassing the entire APC, all mutations resulted in premature truncation of translation caused by non-sense (31%) or change in reading frame (69%). A high ratio of novel APC mutations continues to contribute to APC mutation heterogeneity causing FAP. This is the first comprehensive report of APC germline mutation spectrum in Norway.

  12. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

    Science.gov (United States)

    Fu, Xiaona; Yang, Haipo; Wei, Cuijie; Jiao, Hui; Wang, Shuo; Yang, Yanling; Han, Chunxi; Wu, Xiru; Xiong, Hui

    2016-12-01

    Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRP mutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens had dystrophic changes and reduced glycosylated α-dystroglycan staining, and two showed reduced expression of laminin α2. Two known and 13 novel mutations were identified in our single center cohort. Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients. Moreover, patients homozygous for the c.545A>G mutation were clinically asymptomatic, a less severe phenotype than in compound heterozygous patients with the c.545A>G mutation. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.

  13. New AIDA-2020 call for breakthrough detector technologies

    CERN Multimedia

    2016-01-01

    Physicists, engineers, and industry will be interested in a new proof-of-concept fund for breakthrough projects from the general field of detector development and testing.   Launched in the framework of the European project AIDA-2020, this open call will provide up to 200k€ of seed funding to support innovative and societal applications with a focus on industry-oriented applications. The deadline for applying is 20 October 2016. More information here.

  14. Call-Center Based Disease Management of Pediatric Asthmatics

    Science.gov (United States)

    2006-04-01

    Cagnani CE. Allergic rhinitis and asthma in children: disease management and outcomes. Current Allergy & Asthma Reports. 1(6):515-22, 2001. 58. Chan...of Pediatric Asthmatics PRINCIPAL INVESTIGATOR: James M. Quinn, M.D. CONTRACTING ORGANIZATION: The Geneva Foundation...CONTRACT NUMBER Call-Center Based Disease Management of Pediatric Asthmatics 5b. GRANT NUMBER DAMD17-02-1-0182 5c. PROGRAM ELEMENT NUMBER 6

  15. The ecology and evolution of avian alarm call signaling systems

    Science.gov (United States)

    Billings, Alexis Chandon

    Communication is often set up as a simple dyadic exchange between one sender and one receiver. However, in reality, signaling systems have evolved and are used with many forms and types of information bombarding multiple senders, who in turn send multiple signals of different modalities, through various environmental spaces, finally reaching multiple receivers. In order to understand both the ecology and evolution of a signaling system, we must examine all the facets of the signaling system. My dissertation focused on the alarm call signaling system in birds. Alarm calls are acoustic signals given in response to danger or predators. My first two chapters examine how information about predators alters alarm calls. In chapter one I found that chickadees make distinctions between predators of different hunting strategies and appear to encode information about predators differently if they are heard instead of seen. In my second chapter, I test these findings more robustly in a non-model bird, the Steller's jay. I again found that predator species matters, but that how Steller's jays respond if they saw or heard the predator depends on the predator species. In my third chapter, I tested how habitat has influenced the evolution of mobbing call acoustic structure. I found that habitat is not a major contributor to the variation in acoustic structure seen across species and that other selective pressures such as body size may be more important. In my fourth chapter I present a new framework to understand the evolution of multimodal communication across species. I identify a unique constraint, the need for overlapping sensory systems, thresholds and cognitive abilities between sender and receiver in order for different forms of interspecific communication to evolve. Taken together, these chapters attempt to understand a signaling system from both an ecological and evolutionary perspective by examining each piece of the communication scheme.

  16. Estonian Leader's Freedom Call Creates Storm / Anna Smolchenko

    Index Scriptorium Estoniae

    Smolchenko, Anna

    2008-01-01

    President Toomas Hendrik Ilvese esinemisest soome-ugri rahvaste maailmakongressil Hantõ-Mansiiskis, kohtumisest Venemaa presidendi Dmitri Medvedeviga, Eesti delegatsiooni saalist väljamarssimisest Venemaa riigiduuma väliskomisjoni esimehe Konstantin Kossatshovi sõnavõtu ajal. Ilmunud ka: St. Petersburg Times 1. juuli 2008, pealk.: Estonian Leader's Freedom Call Creates Controversy (lüh.). Vabariigi President töövisiidil Venemaal 27.-30.06.2008

  17. In Response to a Call: Evoking a Keynote

    OpenAIRE

    Neilson, Alison L.; São Marcos, Rita

    2016-01-01

    This is an escape from individualism, competition, and transmissive education practices which are the norms within higher education conferences of the neoliberal university. It is built from the script of a video abstract submitted to a call for keynote presenters for an international congress. Using tricksters and poetic presentations, we offer an open work inviting readers to have fun and make meaning from our provocative attempts.

  18. Staff Scheduling for Inbound Call and Customer Contact Centers

    OpenAIRE

    Fukunaga, Alex; Hamilton, Ed; Fama, Jason; Andre, David; Matan, Ofer; Nourbakhsh, Illah

    2002-01-01

    The staff scheduling problem is a critical problem in the call center (or, more generally, customer contact center) industry. This article describes DIRECTOR, a staff scheduling system for contact centers. DIRECTOR is a constraint-based system that uses AI search techniques to generate schedules that satisfy and optimize a wide range of constraints and service-quality metrics. DIRECTOR has successfully been deployed at more than 800 contact centers, with significant measurable benefits, some ...

  19. CEE/CA: Report calls for decriminalization of sex work.

    Science.gov (United States)

    Betteridge, Glenn

    2006-04-01

    In December 2005, the Central and Eastern European Harm Reduction Network (CEEHRN) released a report calling for the decriminalization of sex work in the 27 countries of Central and Eastern Europe and Central Asia (CEE/CA). The report brings together a wealth of published and original information concerning sex work, laws regulating sex work, epidemiological data regarding HIV and other sexually transmitted infections (STIs), services available to sex workers, and human rights abuses faced by sex workers.

  20. Challenges in Sustaining Employees in Call Centers, Hyderabad

    OpenAIRE

    Gollapalli, Sai Sarvani

    2008-01-01

    The purpose of this work is to investigate the challenges faced by human resource managers in Hyderabad call centres in sustaining their employee pool‟s. Business Process Outsourcing organizations face the highest attrition rates in the world. This research not only plays a crucial exploratory to discover the causes of attrition and the strategies required to reverse the current situation but also addresses the core factors inhibiting the industry to overcome losses worth millions of dollars....

  1. Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

    Science.gov (United States)

    Xie, Hongbo M; Perin, Juan C; Schurr, Theodore G; Dulik, Matthew C; Zhadanov, Sergey I; Baur, Joseph A; King, Michael P; Place, Emily; Clarke, Colleen; Grauer, Michael; Schug, Jonathan; Santani, Avni; Albano, Anthony; Kim, Cecilia; Procaccio, Vincent; Hakonarson, Hakon; Gai, Xiaowu; Falk, Marni J

    2011-10-19

    Mitochondrial genome sequence analysis is critical to the diagnostic evaluation of mitochondrial disease. Existing methodologies differ widely in throughput, complexity, cost efficiency, and sensitivity of heteroplasmy detection. Affymetrix MitoChip v2.0, which uses a sequencing-by-genotyping technology, allows potentially accurate and high-throughput sequencing of the entire human mitochondrial genome to be completed in a cost-effective fashion. However, the relatively low call rate achieved using existing software tools has limited the wide adoption of this platform for either clinical or research applications. Here, we report the design and development of a custom bioinformatics software pipeline that achieves a much improved call rate and accuracy for the Affymetrix MitoChip v2.0 platform. We used this custom pipeline to analyze MitoChip v2.0 data from 24 DNA samples representing a broad range of tissue types (18 whole blood, 3 skeletal muscle, 3 cell lines), mutations (a 5.8 kilobase pair deletion and 6 known heteroplasmic mutations), and haplogroup origins. All results were compared to those obtained by at least one other mitochondrial DNA sequence analysis method, including Sanger sequencing, denaturing HPLC-based heteroduplex analysis, and/or the Illumina Genome Analyzer II next generation sequencing platform. An average call rate of 99.75% was achieved across all samples with our custom pipeline. Comparison of calls for 15 samples characterized previously by Sanger sequencing revealed a total of 29 discordant calls, which translates to an estimated 0.012% for the base call error rate. We successfully identified 4 known heteroplasmic mutations and 24 other potential heteroplasmic mutations across 20 samples that passed quality control. Affymetrix MitoChip v2.0 analysis using our optimized MitoChip Filtering Protocol (MFP) bioinformatics pipeline now offers the high sensitivity and accuracy needed for reliable, high-throughput and cost-efficient whole

  2. Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

    Directory of Open Access Journals (Sweden)

    Xie Hongbo M

    2011-10-01

    Full Text Available Abstract Background Mitochondrial genome sequence analysis is critical to the diagnostic evaluation of mitochondrial disease. Existing methodologies differ widely in throughput, complexity, cost efficiency, and sensitivity of heteroplasmy detection. Affymetrix MitoChip v2.0, which uses a sequencing-by-genotyping technology, allows potentially accurate and high-throughput sequencing of the entire human mitochondrial genome to be completed in a cost-effective fashion. However, the relatively low call rate achieved using existing software tools has limited the wide adoption of this platform for either clinical or research applications. Here, we report the design and development of a custom bioinformatics software pipeline that achieves a much improved call rate and accuracy for the Affymetrix MitoChip v2.0 platform. We used this custom pipeline to analyze MitoChip v2.0 data from 24 DNA samples representing a broad range of tissue types (18 whole blood, 3 skeletal muscle, 3 cell lines, mutations (a 5.8 kilobase pair deletion and 6 known heteroplasmic mutations, and haplogroup origins. All results were compared to those obtained by at least one other mitochondrial DNA sequence analysis method, including Sanger sequencing, denaturing HPLC-based heteroduplex analysis, and/or the Illumina Genome Analyzer II next generation sequencing platform. Results An average call rate of 99.75% was achieved across all samples with our custom pipeline. Comparison of calls for 15 samples characterized previously by Sanger sequencing revealed a total of 29 discordant calls, which translates to an estimated 0.012% for the base call error rate. We successfully identified 4 known heteroplasmic mutations and 24 other potential heteroplasmic mutations across 20 samples that passed quality control. Conclusions Affymetrix MitoChip v2.0 analysis using our optimized MitoChip Filtering Protocol (MFP bioinformatics pipeline now offers the high sensitivity and accuracy needed for

  3. Supervisor’s behavioral complexity: Ineffective in the call center

    Directory of Open Access Journals (Sweden)

    Federico R. León

    2018-02-01

    Full Text Available An ample repertoire of leadership behaviors available to the manager is expected to guarantee his/her effectiveness transcending situations, but research in the call-center context has identified a specific form of effective supervision: people-oriented leadership. The purpose of this paper is to compare the effectiveness of leader behavioral complexity vis-à-vis people-oriented supervision. 268 employees out of 728 of a Peruvian call center filled in an on-line survey that included, among other questionnaires, the Competing Values Framework Managerial Behavior Instrument in reference to their front-line supervisor. The study analyzed the relationships between supervisory leadership and subordinate turnover intention and absenteeism. Behavioral complexity, like people-oriented leadership, predicted subordinate turnover intention but did not predict subordinate absenteeism, which people-oriented leadership did when other leadership orientations (to change, results, processes were held constant. Our explanations consider that absenteeism is a concrete behavior and turnover intention an abstract attitude. The findings are consistent with the call-center literature, suggest important boundaries to the concept of manager behavioral complexity, and highlight the need for contingency theories of leadership effectiveness.

  4. Detection probability of vocalizing dugongs during playback of conspecific calls.

    Science.gov (United States)

    Ichikawa, Kotaro; Akamatsu, Tomonari; Shinke, Tomio; Sasamori, Kotoe; Miyauchi, Yukio; Abe, Yuki; Adulyanukosol, Kanjana; Arai, Nobuaki

    2009-10-01

    Dugongs (Dugong dugon) were monitored using simultaneous passive acoustic methods and visual observations in Thai waters during January 2008. Chirp and trill calls were detected by a towed stereo hydrophone array system. Two teams of experienced observers conducted standard visual observations on the same boat. Comparisons of detection probabilities of acoustic and visual monitoring between two independent observers were calculated. Acoustic and visual detection probabilities were 15.1% and 15.7%, respectively, employing a 300 s matching time interval. When conspecific chirp calls were broadcast from an underwater speaker deployed on the side of the observation boat, the detection probability of acoustic monitoring rose to 19.2%. The visual detection probability was 12.5%. Vocal hot spots characterized by frequent acoustic detection of calls were suggested by dispersion analysis, while dugongs were visually observed constantly throughout the focal area (pmonitoring assisted the survey since detection performance similar to that of experienced visual observers was shown. Playback of conspecific chirps appeared to increase the detection probability, which could be beneficial for future field surveys using passive acoustics in order to ensure the attendance of dugongs in the focal area.

  5. Prazer e sofrimento entre os trabalhadores de Call Center

    Directory of Open Access Journals (Sweden)

    Carolina Scolari

    2009-12-01

    Full Text Available Os conceitos de Taylor foram fundamentais para o desenvolvimento industrial no século XX. Ainda hoje, seus ensinamentos estão presentes em diversos ramos da economia, inclusive, no setor de call center. Call center é uma estrutura que visa ao atendimento de clientes com a utilização de um terminal de computador e de um aparelho telefônico. Esse setor sofreu grande expansão e, em 2006, foi responsável pela geração de 60 mil empregos diretos, tornando-se uma forma de contato e negócios atrativa para empresas do ramo público e privado. O objetivo deste artigo foi analisar as vivências de prazer e sofrimento no trabalho entre os operadores de call centers. Foi realizada uma pesquisa qualitativa, estratégia de estudo de caso e método de análise dos dados, análise de conteúdo. Como resultados, foram elaboradas algumas categorias finais, entre elas as mediações no trabalho, analisada no presente artigo sob o referencial teórico da psicodinâmica do trabalho.

  6. Voice over IP phone calls from your smartphone

    CERN Multimedia

    2014-01-01

    All CERN users do have a Lync account (see here) and can use Instant Messaging, presence and other features. In addition, if your number is activated on Lync IP Phone(1) system then you can make standard phone calls from your computer (Windows/Mac).   Recently, we upgraded the infrastructure to Lync 2013. One of the major features is the possibility to make Voice over IP phone calls from a smartphone using your CERN standard phone number (not mobile!). Install Lync 2013 on iPhone/iPad, Android or Windows Phone, connect to WiFi network and make phone calls as if you were in your office. There will be no roaming charges because you will be using WiFi to connect to CERN phone system(2). Register here to the presentation on Tuesday 29 April at 11 a.m. in the Technical Training Center and see the most exciting features of Lync 2013.   Looking forward to seeing you! The Lync team (1) How to register on Lync IP Phone system: http://information-technology.web.cern.ch/book/lync-ip-phone-serv...

  7. Language teacher education in CALL: history and perspectives

    Directory of Open Access Journals (Sweden)

    Ana Cristina Biondo Salomão

    2013-01-01

    Full Text Available Over the last years, the new technologies have changed the way we relate to information and communicate with other people, which has brought on impact to foreign language teaching and learning, and, consequently, to the area of foreign language teacher education. The abbreviation CALL (Computer Assisted Language Learning has been used to designate the processes of language teaching and learning with the use of computers, and language teacher education in CALL to name teacher education for and with the use of new technologies, since a number of authors point to the interdependence of both processes. We intend in this article to present an overview of the literature of the area of language teacher education in CALL nowadays and discuss issues related to the use of new technologies concerning its integration to teacher education and the functional and institutional roles to be taken. We also present two proposals of teacher education with the use of new technologies which are being implemented and at the same time studied in Brazil, which we believe have essential elements for the development of language teachers for and with the use of new technologies currently.

  8. Application of a smartphone nurse call system for nursing care.

    Science.gov (United States)

    Chuang, Shu-Ting; Liu, Yi-Fang; Fu, Zi-Xuan; Liu, Kuang-Chung; Chien, Sou-Hsin; Lin, Chin-Lon; Lin, Pi-Yu

    2015-02-01

    Traditionally, a patient presses the nurse call button and alerts the central nursing station. This system cannot reach the primary care nurse directly. The aim of this study was to apply a new smartphone system through the cloud system and information technology that linked a smartphone and a mobile nursing station for nursing care service. A smartphone and mobile nursing station were integrated into a smartphone nurse call system through the cloud and information technology for better nursing care. Waiting time for a patient to contact the most responsible nurse was reduced from 3.8 min to 6 s. The average time for pharmacists to locate the nurse for medication problem was reduced from 4.2 min to 1.8 min by the new system. After implementation of the smartphone nurse call system, patients received a more rapid response. This improved patients' satisfaction and reduced the number of complaints about longer waiting time due to the shortage of nurses.

  9. Towards Agent-Oriented Approach to a Call Management System

    Science.gov (United States)

    Ashamalla, Amir Nabil; Beydoun, Ghassan; Low, Graham

    There is more chance of a completed sale if the end customers and relationship managers are suitably matched. This in turn can reduce the number of calls made by a call centre reducing operational costs such as working time and phone bills. This chapter is part of ongoing research aimed at helping a CMC to make better use of its personnel and equipment while maximizing the value of the service it offers to its client companies and end customers. This is accomplished by ensuring the optimal use of resources with appropriate real-time scheduling and load balancing and matching the end customers to appropriate relationship managers. In a globalized market, this may mean taking into account the cultural environment of the customer, as well as the appropriate profile and/or skill of the relationship manager to communicate effectively with the end customer. The chapter evaluates the suitability of a MAS to a call management system and illustrates the requirement analysis phase using i* models.

  10. Living out a calling to teach: A practical theological engagement

    Directory of Open Access Journals (Sweden)

    Carolina Botha

    2013-02-01

    Full Text Available South African teachers are confronted with a plethora of stressors on a daily basis. Often their experience of having a calling to teach is silenced by the realities they have to face. Becoming more aware of the presence of God in their classrooms might turn them into practical theologians. This in itself does not eliminate the factors that cause stress, but it becomes the driving force that keeps them coping in times of duress. Through a constant migration between theory and praxis within the habitus of practical theology, the academic discourses about teachers and about calling are explored. This specific context creates a moment of praxis where they can explore their identity as Christian teachers and their endeavours to create schools driven by their calling. The realisation that they are practical theologians has a profound effect on the different relationship-spheres in which teachers function. Thus they become empowered to be the hands and feet of God in their classrooms and, in turn, serve as agents of hope for their learners and for one another.

  11. Effects of partial hepatectomy on induction of mutation frequency by gamma-rays in new HITEC mice

    Energy Technology Data Exchange (ETDEWEB)

    Ootsuyam, A.; Kato, F.; Norimura, T. [Univ. of Occupational and Environmental Health, Kitakyushu, (Japan)

    2002-07-01

    Mutations induced in vivo by radiation were studied with a transgenic mouse strain, called New HITEC (Hypersensitive In vitro Test of Carcinogenecity), carrying the rpsL gene as a reporter for mutation detection. The wild-type rpsL gene and a gene inducing a kanamycin-resistant phenotype were placed on a pSSW plasmid shuttle vector, and were transfected into E. coli by electroporation after extraction from mouse genomic DNA. Transfected cells were plated on LB plates containing Kanamycine (Km) or Km plus Streptomycine (Sm). The ratio of the colony number on Km and Sm plates to that on Km plates is defined as the rpsL mutation frequency. We had previously investigated differences in mutation frequencies in the testis, spleen, liver, brain, and thymus using rpsL transgenic mice. However, there were some problems in the analysis with a high background mutation frequency. To solve this problem, a partial hepatectomy was tried to increase the mutation frequency detection. The mice were exposed to 3 Gy of gamma rays at 24, 40, 48, or 72 hours after the hepatectomy. Then, the liver was resected on day 7-10 after irradiation, and the mutation frequencies were analyzed. In the mice exposed 24 hours after hepatectomy, the mutation frequency increased approximately four times compared with that of the control mice. In the mice exposed 40, 48, or 72 hours after hepatectomy, the increase in mutation frequency was 2-3 times greater than that of the control mice. These results indicate that hepatectomy is effective in raising the mutation frequency along with the appropriate timing of irradiation.

  12. A comparative study of software adaptation using remote method call and Web Services

    Directory of Open Access Journals (Sweden)

    AFFONSO, F. J.

    2011-06-01

    Full Text Available The software development process has been directed, over the years, to various methodologies with specific purposes to attend emerging needs. Besides, it can also be noticed, during this period, that some processes require mechanisms related to software reuse and greater speed in the development stage. An important factor in this context is the mutation (adaptation, which occurs in all the software's life cycle, due to its customers' needs or due to technological changes. Regarding the latter factor, it has been observed a significant increase in developments that use distributed applications through the World Wide Web or remote application. Based on the adaptation idea and on the necessity of software distribution systems, this paper presents a technique to reconfigure software capable of acting in several developmental contexts (local, distributed and/or Web. In order to demonstrate its applicability, a case study, through the use of service orientation and remote calls, was done to show the software adaptation in the development of applications. Besides, comparative results among the approaches used in the development of reconfigurable applications are also presented.

  13. Studies of human mutation rates

    Energy Technology Data Exchange (ETDEWEB)

    Neel, J.V.

    1990-01-01

    November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

  14. 'A' by Aspergillus terreus through mutation

    African Journals Online (AJOL)

    The highest drug yielding isolate FCBP-58 was subjected to both physical and chemical mutation to increase the biosynthetic capabilities of Cyclosporin 'A'. In this study, mutation was carried out by ultraviolet radiation (254 nm) and alkylating agent ethylmethane sulphonate (EMS). UV 5 min time treatment was proved to be ...

  15. De novo mutations in human genetic disease

    NARCIS (Netherlands)

    Veltman, J.A.; Brunner, H.G.

    2012-01-01

    New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent

  16. The unfolding clinical spectrum of POLG mutations

    NARCIS (Netherlands)

    Blok, M. J.; van den Bosch, B. J.; Jongen, E.; Hendrickx, A.; de Die-Smulders, C. E.; Hoogendijk, J. E.; Brusse, E.; de Visser, M.; Poll-The, B. T.; Bierau, J.; de Coo, I. F.; Smeets, H. J.

    2009-01-01

    BACKGROUND: Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. OBJECTIVE: To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the

  17. The unfolding clinical spectrum of POLG mutations

    NARCIS (Netherlands)

    Blok, M.J.; Bosch, B.J.; Jongen, E.; Hendrickx, A.; de Die-Smulders, C.E.; Hoogendijk, J.E.; Brusse, E.; de Visser, M.; Poll-The, B.T.; Bierau, J.; de Coo, I.F.; Smeets, H.J.

    2009-01-01

    Background: Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. Objective: To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the

  18. The mutation rate to Huntington's chorea

    Science.gov (United States)

    Shaw, Michael; Caro, Adrian

    1982-01-01

    The problems of estimating the mutation rate to Huntington's chorea, or the proportion of new mutants among all sufferers, are discussed. The available survey data are reviewed. The prevalence of sporadic phenotypes, which include new mutations, is probably less than 2·5%. New mutants probably make up around 0·1% or less of all sufferers. PMID:6213773

  19. Tuberous Sclerosis Complex: mutations, functions and phenotypes

    NARCIS (Netherlands)

    O. Sancak (Ozgur)

    2005-01-01

    textabstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed

  20. Mitochondrial mutations drive prostate cancer aggression

    DEFF Research Database (Denmark)

    Hopkins, Julia F.; Sabelnykova, Veronica Y.; Weischenfeldt, Joachim

    2017-01-01

    Nuclear mutations are well known to drive tumor incidence, aggression and response to therapy. By contrast, the frequency and roles of mutations in the maternally inherited mitochondrial genome are poorly understood. Here we sequence the mitochondrial genomes of 384 localized prostate cancer pati...

  1. Recurrent LDL-receptor mutation causes familial ...

    African Journals Online (AJOL)

    1995-05-05

    May 5, 1995 ... Three IOW-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected. Afrikaners. Association of each mutation with a single chromosomal background provided molecular genetic evidence that the proposed 'founder ...

  2. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

    DEFF Research Database (Denmark)

    Pruhova, Stepanka; Dusatkova, Petra; Sumnik, Zdenek

    2010-01-01

    Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK). Objective: The aim of study was to investigate the current prevalence of GCK mutations in a large cohort of Czech patients...... with typical clinical appearance of GCK-MODY. In addition, we reanalyzed the negative results obtained previously by screening using the denaturing high-performance liquid chromatography (dHPLC)....

  3. The shortest of the short: pericentrin mutations and beyond.

    Science.gov (United States)

    Rauch, Anita

    2011-02-01

    Microcephalic or Majewski's osteodysplastic primordial dwarfism type II (MOPD II) represents the most common type of primordial dwarfism. Adult height is typically about one meter and short stature is becoming mildly disproportionate over time with mild skeletal anomalies. Mental development is usually borderline or within the low normal range but cerebrovascular events that are common in childhood can result in significant cognitive impairment and cerebral palsy. Despite cerebrovascular insults, cardiomyopathy and early onset type 2 diabetes contribute to early mortality and morbidity. Common minor clinical features are truncal obesity, high pitched voice, microdontia and pigmentary changes. MOPD II is caused by autosomal recessive loss of function mutations in the PCNT gene encoding for a key centrosomal protein. There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date. Copyright © 2010 Elsevier Ltd. All rights reserved.

  4. Evolutionary biology today and the call for an extended synthesis.

    Science.gov (United States)

    Futuyma, Douglas J

    2017-10-06

    Evolutionary theory has been extended almost continually since the evolutionary synthesis (ES), but except for the much greater importance afforded genetic drift, the principal tenets of the ES have been strongly supported. Adaptations are attributable to the sorting of genetic variation by natural selection, which remains the only known cause of increase in fitness. Mutations are not adaptively directed, but as principal authors of the ES recognized, the material (structural) bases of biochemistry and development affect the variety of phenotypic variations that arise by mutation and recombination. Against this historical background, I analyse major propositions in the movement for an 'extended evolutionary synthesis'. 'Niche construction' is a new label for a wide variety of well-known phenomena, many of which have been extensively studied, but (as with every topic in evolutionary biology) some aspects may have been understudied. There is no reason to consider it a neglected 'process' of evolution. The proposition that phenotypic plasticity may engender new adaptive phenotypes that are later genetically assimilated or accommodated is theoretically plausible; it may be most likely when the new phenotype is not truly novel, but is instead a slight extension of a reaction norm already shaped by natural selection in similar environments. However, evolution in new environments often compensates for maladaptive plastic phenotypic responses. The union of population genetic theory with mechanistic understanding of developmental processes enables more complete understanding by joining ultimate and proximate causation; but the latter does not replace or invalidate the former. Newly discovered molecular phenomena have been easily accommodated in the past by elaborating orthodox evolutionary theory, and it appears that the same holds today for phenomena such as epigenetic inheritance. In several of these areas, empirical evidence is needed to evaluate enthusiastic speculation

  5. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

    Science.gov (United States)

    Neven, Bénédicte; Magerus-Chatinet, Aude; Florkin, Benoit; Gobert, Delphine; Lambotte, Olivier; De Somer, Lien; Lanzarotti, Nina; Stolzenberg, Marie-Claude; Bader-Meunier, Brigitte; Aladjidi, Nathalie; Chantrain, Christophe; Bertrand, Yves; Jeziorski, Eric; Leverger, Guy; Michel, Gérard; Suarez, Felipe; Oksenhendler, Eric; Hermine, Olivier; Blanche, Stéphane; Picard, Capucine; Fischer, Alain; Rieux-Laucat, Frédéric

    2011-11-03

    Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder characterized by early-onset, chronic, nonmalignant lymphoproliferation, autoimmune manifestations, and susceptibility to lymphoma. The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. Although the clinical features of ALPS have been described previously, long-term follow-up data on morbidity and mortality are scarce. We performed a retrospective analysis of clinical and genetic features of 90 ALPS-FAS and ALPS-sFAS patients monitored over a median period of 20.5 years. Heterozygous germline mutations of TNFRSF6 were identified in 83% of probands. Somatic TNFRSF6 mutations were found in 17% of index cases (all located within the intracellular domain of FAS). Sixty percent of the ALPS-FAS patients with mutations in the extracellular domain had a somatic mutation affecting the second allele of TNFRSF6; age at onset was later in these patients. No other genotype-phenotype correlations could be found. Long-term analysis confirmed a trend toward spontaneous remission of lymphoproliferation in adulthood but mixed outcomes for autoimmune manifestations. We observed significant and potentially life-threatening disease and treatment-related morbidity, including a high risk of sepsis after splenectomy that calls for careful long-term monitoring of ALPS patients. We also noted a significantly greater occurrence of disease-related symptoms in male than in female patients.

  6. Simulated Annealing Based Algorithm for Identifying Mutated Driver Pathways in Cancer

    Directory of Open Access Journals (Sweden)

    Hai-Tao Li

    2014-01-01

    Full Text Available With the development of next-generation DNA sequencing technologies, large-scale cancer genomics projects can be implemented to help researchers to identify driver genes, driver mutations, and driver pathways, which promote cancer proliferation in large numbers of cancer patients. Hence, one of the remaining challenges is to distinguish functional mutations vital for cancer development, and filter out the unfunctional and random “passenger mutations.” In this study, we introduce a modified method to solve the so-called maximum weight submatrix problem which is used to identify mutated driver pathways in cancer. The problem is based on two combinatorial properties, that is, coverage and exclusivity. Particularly, we enhance an integrative model which combines gene mutation and expression data. The experimental results on simulated data show that, compared with the other methods, our method is more efficient. Finally, we apply the proposed method on two real biological datasets. The results show that our proposed method is also applicable in real practice.

  7. Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Rinaldi Fabrizio

    2011-09-01

    Full Text Available Abstract Background Treacher Collins syndrome (TCS is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the TCOF1 gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the TCOF1 gene have been implicated in only 81-93% of TCS cases. Methods In this study, the entire coding regions of the TCOF1 gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication. Results Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein. Conclusion This study confirms that almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein.

  8. [Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].

    Science.gov (United States)

    Cao, Yanyan; Qu, Yujin; Song, Fang; Bai, Jinli; Jin, Yuwei; Wang, Hong

    2015-02-01

    To establish a hyperphenylalaninemia related genes screening method using Ion Torrent Personal Genome Machine (PGM) for early detection and differential diagnosis of hyperphenylalaninemia (HPA). Three children with known HPA mutations and a healthy control were used for setting up the method. Ten children with HPA with known mutations were recruited for validating the method. Ion Ampliseq PCR was used to amplify the 5' and 3' untranslated region, coding sequence, and flanking introns of PAH, GCH1, PTS, QDPR, and PCBD1 genes. After the enrichment with the Ion OneTouch system, the products were sequenced by PGM. Data from the PGM were processed with Torrent Suite v2.2 software package. All variations were confirmed by Sanger sequencing. For the 4 samples, the PGM output was 94.22 Mb, with approximately 99.5% of reads mapping to the target regions. Among these samples, we detected 74 variations (28 positions) including 6 known mutations. Compared with database and results of Sanger sequencing, 55 (18 positions) polymorphisms and 13 (4 positions) false positive calls were confirmed. For the 10 samples, all the known mutations were successfully identified. Ion Torrent PGM sequencing is suitable for screening genetic mutation underlying HPA from the perspective of metabolic pathways, which can meet the clinical demand for individualized diagnosis and treatment.

  9. Mutation of human cells by kerosene soot

    Energy Technology Data Exchange (ETDEWEB)

    Skopek, T.R. (Massachusetts Inst. of Tech., Cambridge, MA); Liber, H.L.; Kaden, D.A.; Hites, R.A.; Thilly, W.G.

    1979-08-01

    The polycyclic aromatic hydrocarbon fraction of a kerosene soot induced forward mutation in human diploid lymphoblasts when coincubated with coincubated with Sprague-Dawley rat liver postmitochondrial supematant. Two components of the kerosene soot extract, benzo(a)pyrene (BP) and cyclopenta(cd)pyrene (CP), were also tested. BP was not mutagenic at the concentration found in the soot extract, although it was active at higher concentrations. The amount of CP present could account for approximately 8% of the total mutation observed with the soot. The results were compared to data obtained previously in a similar mutation assay in Salmonella typhimurium. the protocol described permits the facile assay of mutation at the hgprt locus in human lymphoblasts; such mutation is induced by compounds or complex mixtures requiring mixed-function oxygenase activity for metabolism to genetically active derivatives.

  10. Hypomyelinating Leukodystrophy due to HSPD1 Mutations

    DEFF Research Database (Denmark)

    Kusk, Maria Schioldan; Damgaard, Bodil; Risom, Lotte

    2016-01-01

    The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form of HML as well as Pelizaeus-Merzbacher-like disease (PMLD) (Online Mendelian Inheritance in Man [OMIM] 608804 and OMIM 260600) due to GJC2...... mutations. In addition, mutations in at least 10 other genes are known to cause HMLs. In 2008, an Israeli family with clinical and neuroimaging findings similar to those found in PMD was reported. The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat......-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. We here report the first case of this severe neurodegenerative disease since it was first described. Given the fact that the families carried the same mutation our patient...

  11. Latex allergy and filaggrin null mutations

    DEFF Research Database (Denmark)

    Carlsen, Berit C; Meldgaard, Michael; Hamann, Dathan

    2011-01-01

    Objectives Natural rubber latex (NRL) contains over 200 proteins of which 13 have been identified as allergens and the cause of type I latex allergy. Health care workers share a high occupational risk for developing latex allergy. Filaggrin null mutations increase the risk of type I sensitizations...... to aeroallergens and it is possible that filaggrin null mutations also increase the risk of latex allergy. The aim of this paper was to examine the association between filaggrin null mutations and type I latex allergy. Methods Twenty latex allergic and 24 non-latex allergic dentists and dental assistants......, occupationally exposed to latex, were genotyped for filaggrin null mutations R501X and 2282del4. Latex allergy was determined by a positive reaction or a historical positive reaction to a skin prick test with NRL. Results 41 individuals were successfully genotyped. Three individuals were filaggrin mutation...

  12. MT-CYB mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2013-01-01

    Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important...... and m.15482T>C; p.S246P were identified. Modeling showed that the p.C93Y mutation leads to disruption of the tertiary structure of Cytb by helix displacement, interfering with protein-heme interaction. The p.S246P mutation induces a diproline structure, which alters local secondary structure and induces...... of HCM patients. We propose that further patients with HCM should be examined for mutations in MT-CYB in order to clarify the role of these variants....

  13. Gotta Go, Mom’s Calling: Dolphin (Tursiops truncatus Mothers Use Individually Distinctive Acoustic Signals To Call Their Calves

    Directory of Open Access Journals (Sweden)

    Stan A. Kuczaj II

    2015-02-01

    Full Text Available Dolphin calves often wander away from their mothers, which can compromise their safety and survival. Mothers can retrieve their calves by actively pursuing them or by signaling their wandering calves to return. However, little is known about the retrieval techniques employed by mothers in specific calf recall contexts. We experimentally investigated maternal calf retrieval methods by assessing behavioral and acoustic strategies employed by three Atlantic bottlenose dolphin mothers to elicit their calf’s return in a controlled, non-threatening setting. Three mothers were asked to retrieve their calves on cue in this setting, and could do so however they chose. Mothers were much more likely to use energetically less costly acoustic signals than physical retrievals. Each mother produced individually distinctive calls that incorporated the mother’s signature whistle but often also involved additional whistles and clicks. The dolphin mothers’ use of individually distinctive calls to request a calf’s return is consistent with the notion that other dolphins can distinguish such calls and provides additional support for the notion that dolphin communication is flexible rather than fixed.

  14. Somatic mutations in cerebral cortical malformations.

    Science.gov (United States)

    Jamuar, Saumya S; Lam, Anh-Thu N; Kircher, Martin; D'Gama, Alissa M; Wang, Jian; Barry, Brenda J; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E; Berkovic, Samuel F; Leventer, Richard J; Shen, Yiping; Wu, Bai Lin; Barkovich, A James; Sahin, Mustafa; Chang, Bernard S; Bamshad, Michael; Nickerson, Deborah A; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W; Walsh, Christopher A

    2014-08-21

    Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.).

  15. The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

    Science.gov (United States)

    Payne, Amanda B; Miller, Connie H; Kelly, Fiona M; Michael Soucie, J; Craig Hooper, W

    2013-02-01

    Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutations with inhibitors, and reference information. The mutation list currently contains 2,537 unique mutations known to cause HA. HA severity caused by the mutation is available for 2,022 mutations (80%) and information on inhibitors is available for 1,816 mutations (72%). The CDC Hemophilia A Mutation Project (CHAMP) Mutation List is available at http://www.cdc.gov/hemophiliamutations for download and search and will be updated quarterly based on periodic literature reviews and submitted reports. Published 2012. This Article is a US Government work and is in the public domain in the USA.

  16. HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes.

    Science.gov (United States)

    Sherman, Westley Arthur; Kuchibhatla, Durga Bhavani; Limviphuvadh, Vachiranee; Maurer-Stroh, Sebastian; Eisenhaber, Birgit; Eisenhaber, Frank

    2015-10-01

    Next-generation sequencing advances are rapidly expanding the number of human mutations to be analyzed for causative roles in genetic disorders. Our Human Protein Mutation Viewer (HPMV) is intended to explore the biomolecular mechanistic significance of non-synonymous human mutations in protein-coding genomic regions. The tool helps to assess whether protein mutations affect the occurrence of sequence-architectural features (globular domains, targeting signals, post-translational modification sites, etc.). As input, HPMV accepts protein mutations - as UniProt accessions with mutations (e.g. HGVS nomenclature), genome coordinates, or FASTA sequences. As output, HPMV provides an interactive cartoon showing the mutations in relation to elements of the sequence architecture. A large variety of protein sequence architectural features were selected for their particular relevance to mutation interpretation. Clicking a sequence feature in the cartoon expands a tree view of additional information including multiple sequence alignments of conserved domains and a simple 3D viewer mapping the mutation to known PDB structures, if available. The cartoon is also correlated with a multiple sequence alignment of similar sequences from other organisms. In cases where a mutation is likely to have a straightforward interpretation (e.g. a point mutation disrupting a well-understood targeting signal), this interpretation is suggested. The interactive cartoon can be downloaded as standalone viewer in Java jar format to be saved and viewed later with only a standard Java runtime environment. The HPMV website is: http://hpmv.bii.a-star.edu.sg/ .

  17. The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: a New Online Resource

    Science.gov (United States)

    Payne, Amanda B.; Miller, Connie H.; Kelly, Fiona M.; Soucie, J. Michael; Hooper, W. Craig

    2015-01-01

    Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutations with inhibitors, and reference information. The mutation list currently contains 2,537 unique mutations known to cause HA. HA severity caused by the mutation is available for 2,022 mutations (80%) and information on inhibitors is available for 1,816 mutations (72%). The CDC Hemophilia A Mutation Project (CHAMP) Mutation List is available at http://www.cdc.gov/hemophiliamutations for download and search and will be updated quarterly based on periodic literature reviews and submitted reports. PMID:23280990

  18. Calling and Life Satisfaction: It's Not about Having It, It's about Living It

    Science.gov (United States)

    Duffy, Ryan D.; Allan, Blake A.; Autin, Kelsey L.; Bott, Elizabeth M.

    2013-01-01

    The present study examined the relation of career calling to life satisfaction among a diverse sample of 553 working adults, with a specific focus on the distinction between perceiving a calling (sensing a calling to a career) and living a calling (actualizing one's calling in one's current career). As hypothesized, the relation of perceiving a…

  19. Mutations in SCG10 are not involved in Hirschsprung disease.

    Directory of Open Access Journals (Sweden)

    Maria M M Alves

    Full Text Available Hirschsprung disease (HSCR is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases, implying that other genes are involved. Since HSCR is frequently associated with other congenital malformations, the functional characterization of the proteins encoded by the genes involved in these syndromes can provide insights into the protein-network involved in HSCR development. Recently, we found that KBP, encoded by the gene involved in a HSCR- associated syndrome called Goldberg-Shprintzen syndrome, interacts with SCG10, a stathmin-like protein. To determine if SCG10 is involved in the etiology of HSCR, we determined SCG10 expression levels during development and screened 85 HSCR patients for SCG10 mutations. We showed that SCG10 expression increases during development but no germline mutation was found in any of these patients. In conclusion, this study shows that SCG10 is not directly implicated in HSCR development. However, an indirect involvement of SCG10 cannot be ruled out as this can be due to a secondary effect caused by its direct interactors.

  20. Mutation profiling of adenoid cystic carcinomas from multiple anatomical sites identifies mutations in the RAS pathway, but no KIT mutations

    Science.gov (United States)

    Wetterskog, Daniel; Wilkerson, Paul M; Rodrigues, Daniel N; Lambros, Maryou B; Fritchie, Karen; Andersson, Mattias K; Natrajan, Rachael; Gauthier, Arnaud; Di Palma, Silvana; Shousha, Sami; Gatalica, Zoran; Töpfer, Chantal; Vukovic, Vesna; A’Hern, Roger; Weigelt, Britta; Vincent-Salomon, Anne; Stenman, Göran; Rubin, Brian P; Reis-Filho, Jorge S

    2016-01-01

    Aims The majority of adenoid cystic carcinomas (AdCCs), regardless of anatomical site, harbour the MYB–NFIB fusion gene. The aim of this study was to characterize the repertoire of somatic genetic events affecting known cancer genes in AdCCs. Methods and results DNA was extracted from 13 microdissected breast AdCCs, and subjected to a mutation survey using the Sequenom OncoCarta Panel v1.0. Genes found to be mutated in any of the breast AdCCs and genes related to the same canonical molecular pathways, as well as KIT, a proto-oncogene whose protein product is expressed in AdCCs, were sequenced in an additional 68 AdCCs from various anatomical sites by Sanger sequencing. Using the Sequenom MassARRAY platform and Sanger sequencing, mutations in BRAF and HRAS were identified in three and one cases, respectively (breast, and head and neck). KIT, which has previously been reported to be mutated in AdCCs, was also investigated, but no mutations were identified. Conclusions Our results demonstrate that mutations in genes pertaining to the canonical RAS pathway are found in a minority of AdCCs, and that activating KIT mutations are either absent or remarkably rare in these cancers, and unlikely to constitute a driver and therapeutic target for patients with AdCC. PMID:23398044