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Sample records for comprehensive genetic study

  1. Simulation Optimization by Genetic Search: A Comprehensive Study with Applications to Production Management

    National Research Council Canada - National Science Library

    Yunker, James

    2003-01-01

    In this report, a relatively new simulation optimization technique, the genetic search, is compared to two more established simulation techniques-the pattern search and the response surface methodology search...

  2. Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

    Science.gov (United States)

    Keikhaei, Bijan; Slehi-Fard, Pejman; Shariati, Gholamreza; Khosravi, Abbas

    2018-04-07

    Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing. The effects of single nucleotide change on the protein function and stability were predicted by freely available databases of human polymorphisms. Sixty-three different genotypes were seen in the patients. The more prevalent was heterozygote form of -α3.7 (41.4%) followed by -α3.7 homozygote (11.6%) and -MED (3.8%). The significant differences were seen in mean hemoglobin level [F = 20.5, p < 0.001] between the Alpha-globin genotypes, when adjusted for gender. Moreover, 28 different mutations were found in our study. A significant relationship was seen between ethnicity and the alpha-globin mutation frequency χ 2 (df;8) = 38.36, p < 0.0001). Different genotypes could display as different phenotypes. The mutation frequency distributions in our region are different from those of other parts of Iran. Significant differences are seen in the spectrum of mutation frequency among various ethnicities. Finally, some missense mutations might not have considerable effect on the proteins, and they could be neutral mutations.

  3. Overlapping genetic and child-specific nonshared environmental influences on listening comprehension, reading motivation, and reading comprehension.

    Science.gov (United States)

    Schenker, Victoria J; Petrill, Stephen A

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Overlapping Genetic and Child-Specific Nonshared Environmental Influences on Listening Comprehension, Reading Motivation, and Reading Comprehension

    Science.gov (United States)

    Schenker, Victoria J.; Petrill, Stephen A.

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects. PMID:26321677

  5. A comprehensive study of tumor necrosis factor-alpha genetic polymorphisms, its expression in skin and relation to histopathological features in psoriasis

    Directory of Open Access Journals (Sweden)

    Nikhil N Moorchung

    2015-01-01

    Full Text Available Background: Tumor necrosis factor-alpha (TNFα is an important inflammatory mediator in psoriasis and several genetic polymorphisms of this cytokine have been reported. Majority of studies have focused on the increased G- A polymorphism at the -308 position in psoriasis. There has been no comprehensive study evaluating the genetic polymorphisms, TNFα expression in the skin and histopathology. We are undertaking this study to outline TNFα genetic polymorphisms, its skin expression and histopathological correlation to help determine its role at the genetic and protein level. Materials and Methods : 112 patients of psoriasis and 243 healthy controls were included in this prospective study. 5 ml of peripheral blood was collected to study the TNFα genetic polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis. Histopathological analysis of biopsies from the 112 patients were done using visual analogue scale and correlated with the findings. 61 of these cases were analyzed for TNFα expression by immunohistochemistry. The results of study were statistically analyzed using SPSS 13.0 statistical package program. Results: A strong association of TNFα -308 G/A polymorphism in psoriasis cases was detected. The A allele of the TNFα -308 G/A polymorphism occurs rarely in the Indian population, however there is an over representation of this allele in psoriatic patients. There was no association seen between TNFα genotype and histopathological severity of psoriasis. Conclusion: The study emphasized the central role of TNFα in the pathogenesis of psoriasis. TNFα genotyping may be helpful in identifying subjects in whom anti-TNFα therapeutic strategies may be tried.

  6. Comprehensive genetic study of fatty acids helps explain the role of noncoding inflammatory bowel disease associated SNPs and fatty acid metabolism in disease pathogenesis.

    Science.gov (United States)

    Jezernik, Gregor; Potočnik, Uroš

    2018-03-01

    Fatty acids and their derivatives play an important role in inflammation. Diet and genetics influence fatty acid profiles. Abnormalities of fatty acid profiles have been observed in inflammatory bowel diseases (IBD), a group of complex diseases defined by chronic gastrointestinal inflammation. IBD associated fatty acid profile abnormalities were observed independently of nutritional status or disease activity, suggesting a common genetic background. However, no study so far has attempted to look for overlap between IBD loci and fatty acid associated loci or investigate the genetics of fatty acid profiles in IBD. To this end, we conducted a comprehensive genetic study of fatty acid profiles in IBD using iCHIP, a custom microarray platform designed for deep sequencing of immune-mediated disease associated loci. This study identifies 10 loci associated with fatty acid profiles in IBD. The most significant associations were a locus near CBS (p = 7.62 × 10 -8 ) and a locus in LRRK2 (p = 1.4 × 10 -7 ). Of note, this study replicates the FADS gene cluster locus, previously associated with both fatty acid profiles and IBD pathogenesis. Furthermore, we identify 18 carbon chain trans-fatty acids (p = 1.12 × 10 -3 ), total trans-fatty acids (p = 4.49 × 10 -3 ), palmitic acid (p = 5.85 × 10 -3 ) and arachidonic acid (p = 8.58 × 10 -3 ) as significantly associated with IBD pathogenesis. Copyright © 2018 Elsevier Ltd. All rights reserved.

  7. Genetic background in nonalcoholic fatty liver disease: A comprehensive review

    Science.gov (United States)

    Macaluso, Fabio Salvatore; Maida, Marcello; Petta, Salvatore

    2015-01-01

    In the Western world, nonalcoholic fatty liver disease (NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstrated by several epidemiological, familial, and twin studies and case series, and likely reflects the wide inter-individual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148M as a major player in the development and progression of NAFLD. More recently, the transmembrane 6 superfamily member 2 E167K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes. Furthermore, numerous case-control studies have been performed to elucidate the potential role of candidate genes in the pathogenesis and progression of fatty liver, although findings are sometimes contradictory. Accordingly, we performed a comprehensive literature search and review on the role of genetics in NAFLD. We emphasize the strengths and weaknesses of the available literature and outline the putative role of each genetic variant in influencing susceptibility and/or progression of the disease. PMID:26494964

  8. Do Knowledge Arrangements Affect Student Reading Comprehension of Genetics?

    Science.gov (United States)

    Wu, Jen-Yi; Tung, Yu-Neng; Hwang, Bi-Chi; Lin, Chen-Yung; Che-Di, Lee; Chang, Yung-Ta

    2014-01-01

    Various sequences for teaching genetics have been proposed. Three seventh-grade biology textbooks in Taiwan share similar key knowledge assemblages but have different knowledge arrangements. To investigate the influence of knowledge arrangements on student understanding of genetics, we compared students' reading comprehension of the three texts…

  9. Comprehensive review of genetic association studies and meta-analyses on miRNA polymorphisms and cancer risk.

    Directory of Open Access Journals (Sweden)

    Kshitij Srivastava

    Full Text Available MicroRNAs (miRNAs are small RNA molecules that regulate the expression of corresponding messenger RNAs (mRNAs. Variations in the level of expression of distinct miRNAs have been observed in the genesis, progression and prognosis of multiple human malignancies. The present study was aimed to investigate the association between four highly studied miRNA polymorphisms (mir-146a rs2910164, mir-196a2 rs11614913, mir-149 rs2292832 and mir-499 rs3746444 and cancer risk by using a two-sided meta-analytic approach.An updated meta-analysis based on 53 independent case-control studies consisting of 27573 cancer cases and 34791 controls was performed. Odds ratio (OR and 95% confidence interval (95% CI were used to investigate the strength of the association.Overall, the pooled analysis showed that mir-196a2 rs11614913 was associated with a decreased cancer risk (OR = 0.846, P = 0.004, TT vs. CC while other miRNA SNPs showed no association with overall cancer risk. Subgroup analyses based on type of cancer and ethnicity were also performed, and results indicated that there was a strong association between miR-146a rs2910164 and overall cancer risk in Caucasian population under recessive model (OR = 1.274, 95%CI = 1.096-1.481, P = 0.002. Stratified analysis by cancer type also associated mir-196a2 rs11614913 with lung and colorectal cancer at allelic and genotypic level.The present meta-analysis suggests an important role of mir-196a2 rs11614913 polymorphism with overall cancer risk especially in Asian population. Further studies with large sample size are needed to evaluate and confirm this association.

  10. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    Science.gov (United States)

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  11. Transitioning from Targeted to Comprehensive Mass Spectrometry Using Genetic Algorithms.

    Science.gov (United States)

    Jaffe, Jacob D; Feeney, Caitlin M; Patel, Jinal; Lu, Xiaodong; Mani, D R

    2016-11-01

    Targeted proteomic assays are becoming increasingly popular because of their robust quantitative applications enabled by internal standardization, and they can be routinely executed on high performance mass spectrometry instrumentation. However, these assays are typically limited to 100s of analytes per experiment. Considerable time and effort are often expended in obtaining and preparing samples prior to targeted analyses. It would be highly desirable to detect and quantify 1000s of analytes in such samples using comprehensive mass spectrometry techniques (e.g., SWATH and DIA) while retaining a high degree of quantitative rigor for analytes with matched internal standards. Experimentally, it is facile to port a targeted assay to a comprehensive data acquisition technique. However, data analysis challenges arise from this strategy concerning agreement of results from the targeted and comprehensive approaches. Here, we present the use of genetic algorithms to overcome these challenges in order to configure hybrid targeted/comprehensive MS assays. The genetic algorithms are used to select precursor-to-fragment transitions that maximize the agreement in quantification between the targeted and the comprehensive methods. We find that the algorithm we used provided across-the-board improvement in the quantitative agreement between the targeted assay data and the hybrid comprehensive/targeted assay that we developed, as measured by parameters of linear models fitted to the results. We also found that the algorithm could perform at least as well as an independently-trained mass spectrometrist in accomplishing this task. We hope that this approach will be a useful tool in the development of quantitative approaches for comprehensive proteomics techniques. Graphical Abstract ᅟ.

  12. Mining literature for a comprehensive pathway analysis: A case study for retrieval of homocysteine related genes for genetic and epigenetic studies

    Directory of Open Access Journals (Sweden)

    Mahajan Anubha

    2006-01-01

    Full Text Available Abstract Homocysteine is an independent risk factor for cardiovascular diseases. It is also known to be associated with a variety of complex disorders. While there are a large number of independent studies implicating homocysteine in isolated pathways, the mechanism of homocysteine induced adverse effects are not clear. Homocysteine-induced modulation of gene expression through alteration of methylation status or by hitherto unknown mechanisms is predicted to lead to several pathological conditions either directly or indirectly. In the present manuscript, using literature mining approach, we have identified the genes that are modulated directly or indirectly by an elevated level of homocysteine. These genes were then placed in appropriate pathways in an attempt to understand the molecular basis of homocysteine induced complex disorders and to provide a resource for selection of genes for polymorphism screening and analysis of mutations as well as epigenetic modifications in relation to hyperhomocysteinemia. We have identified 135 genes in 1137 abstracts that either modulate the levels of homocysteine or are modulated by elevated levels of homocysteine. Mapping the genes to their respective pathways revealed that an elevated level of homocysteine leads to the atherosclerosis either by directly affecting lipid metabolism and transport or via oxidative stress and/or Endoplasmic Reticulum (ER stress. Elevated levels of homocysteine also decreases the bioavailability of nitric oxide and modulates the levels of other metabolites including S-adenosyl methionine and S-adenosyl homocysteine which may result in cardiovascular or neurological disorders. The ER stress emerges as the common pathway that relates to apoptosis, atherosclerosis and neurological disorders and is modulated by levels of homocysteine. The comprehensive network collated has lead to the identification of genes that are modulated by homocysteine indicating that homocysteine exerts its

  13. Comprehensive embryo testing. Experts' opinions regarding future directions: an expert panel study on comprehensive embryo testing.

    Science.gov (United States)

    Hens, Kristien; Dondorp, Wybo J; Geraedts, Joep P M; de Wert, Guido M

    2013-05-01

    What do scientists in the field of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) consider to be the future direction of comprehensive embryo testing? Although there are many biological and technical limitations, as well as uncertainties regarding the meaning of genetic variation, comprehensive embryo testing will impact the IVF/PGD practice and a timely ethical reflection is needed. Comprehensive testing using microarrays is currently being introduced in the context of PGD and PGS, and it is to be expected that whole-genome sequencing will also follow. Current ethical and empirical sociological research on embryo testing focuses on PGD as it is practiced now. However, empirical research and systematic reflection regarding the impact of comprehensive techniques for embryo testing is missing. In order to understand the potential of this technology and to be able to adequately foresee its implications, we held an expert panel with seven pioneers in PGD. We conducted an expert panel in October 2011 with seven PGD pioneers from Belgium, The Netherlands, Germany and the UK. Participants expected the use of comprehensive techniques in the context of PGD. However, the introduction of these techniques in embryo testing requires timely ethical reflection as it involves a shift from choosing an embryo without a particular genetic disease (i.e. PGD) or most likely to result in a successful pregnancy (i.e. PGS) to choosing the best embryo based on a much wider set of criteria. Such ethical reflection should take account of current technical and biological limitations and also of current uncertainties with regard to the meaning of genetic variance. However, ethicists should also not be afraid to look into the future. There was a general agreement that embryo testing will be increasingly preceded by comprehensive preconception screening, thus enabling smart combinations of genetic testing. The group was composed of seven participants from

  14. Comprehensive Genetic Database of Expressed Sequence Tags for Coccolithophorids

    Science.gov (United States)

    Ranji, Mohammad; Hadaegh, Ahmad R.

    Coccolithophorids are unicellular, marine, golden-brown, single-celled algae (Haptophyta) commonly found in near-surface waters in patchy distributions. They belong to the Phytoplankton family that is known to be responsible for much of the earth reproduction. Phytoplankton, just like plants live based on the energy obtained by Photosynthesis which produces oxygen. Substantial amount of oxygen in the earth's atmosphere is produced by Phytoplankton through Photosynthesis. The single-celled Emiliana Huxleyi is the most commonly known specie of Coccolithophorids and is known for extracting bicarbonate (HCO3) from its environment and producing calcium carbonate to form Coccoliths. Coccolithophorids are one of the world's primary producers, contributing about 15% of the average oceanic phytoplankton biomass to the oceans. They produce elaborate, minute calcite platelets (Coccoliths), covering the cell to form a Coccosphere and supplying up to 60% of the bulk pelagic calcite deposited on the sea floors. In order to understand the genetics of Coccolithophorid and the complexities of their biochemical reactions, we decided to build a database to store a complete profile of these organisms' genomes. Although a variety of such databases currently exist, (http://www.geneservice.co.uk/home/) none have yet been developed to comprehensively address the sequencing efforts underway by the Coccolithophorid research community. This database is called CocooExpress and is available to public (http://bioinfo.csusm.edu) for both data queries and sequence contribution.

  15. A comprehensive platform for highly multiplexed mammalian functional genetic screens

    Directory of Open Access Journals (Sweden)

    Cheung-Ong Kahlin

    2011-05-01

    Full Text Available Abstract Background Genome-wide screening in human and mouse cells using RNA interference and open reading frame over-expression libraries is rapidly becoming a viable experimental approach for many research labs. There are a variety of gene expression modulation libraries commercially available, however, detailed and validated protocols as well as the reagents necessary for deconvolving genome-scale gene screens using these libraries are lacking. As a solution, we designed a comprehensive platform for highly multiplexed functional genetic screens in human, mouse and yeast cells using popular, commercially available gene modulation libraries. The Gene Modulation Array Platform (GMAP is a single microarray-based detection solution for deconvolution of loss and gain-of-function pooled screens. Results Experiments with specially constructed lentiviral-based plasmid pools containing ~78,000 shRNAs demonstrated that the GMAP is capable of deconvolving genome-wide shRNA "dropout" screens. Further experiments with a larger, ~90,000 shRNA pool demonstrate that equivalent results are obtained from plasmid pools and from genomic DNA derived from lentivirus infected cells. Parallel testing of large shRNA pools using GMAP and next-generation sequencing methods revealed that the two methods provide valid and complementary approaches to deconvolution of genome-wide shRNA screens. Additional experiments demonstrated that GMAP is equivalent to similar microarray-based products when used for deconvolution of open reading frame over-expression screens. Conclusion Herein, we demonstrate four major applications for the GMAP resource, including deconvolution of pooled RNAi screens in cells with at least 90,000 distinct shRNAs. We also provide detailed methodologies for pooled shRNA screen readout using GMAP and compare next-generation sequencing to GMAP (i.e. microarray based deconvolution methods.

  16. Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis

    Directory of Open Access Journals (Sweden)

    Sarah M. Choi

    2017-01-01

    Full Text Available While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous leukemia with subsequent altered treatment of each patient. We demonstrate the power of comprehensive testing in ensuring appropriate classification of genetically heterogeneous neoplasms, and emphasize thoughtful analysis of molecular and genetic data as an essential component of diagnosis and management.

  17. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Elizabeth; Agarwal, Prachi P. [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); Mahani, Maryam Ghadimi [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Lu, Jimmy C.; Dorfman, Adam L. [University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); C.S. Mott Children' s Hospital, University of Michigan Health System, Section of Pediatric Cardiology, Department of Pediatrics, Ann Arbor, MI (United States); Srinivasan, Ashok [University of Michigan Health System, Division of Neuroradiology, Department of Radiology, Ann Arbor, MI (United States)

    2018-02-15

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  18. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    International Nuclear Information System (INIS)

    Lee, Elizabeth; Agarwal, Prachi P.; Mahani, Maryam Ghadimi; Lu, Jimmy C.; Dorfman, Adam L.; Srinivasan, Ashok

    2018-01-01

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  19. Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgV(H) status and immunophenotyping.

    Science.gov (United States)

    Haferlach, C; Dicker, F; Schnittger, S; Kern, W; Haferlach, T

    2007-12-01

    In CLL data from chromosome banding analysis (CBA) have been scarce due to the low proliferative activity of CLL cells in vitro. We improved the cultivation technique using an immunostimulatory CpG-oligonucleotide DSP30 and IL-2. A total of 506 CLL samples were analysed with CBA and interphase FISH using probes for the detection of trisomy 12, IgH rearrangements and deletions of 6q21, 11q22.3 (ATM), 13q14 (D13S25 and D13S319) and 17p13 (TP53). A total of 500 of 506 (98.8%) cases were successfully stimulated for metaphase generation and are subject to this study. Aberrations were detected in 415 of 500 (83.0%) cases by CBA and in 392 of 500 (78.4%) cases by FISH. CBA detected 832 abnormalities and FISH only 502. Therefore, CBA offers important information in addition to FISH. (1) CLL is characterized mainly by genomic imbalances and reciprocal translocations are rare. (2) A subgroup with complex aberrant karyotype (16.4%) is identified which is associated with an unmutated IgV(H) status and CD38 expression (P=0.034 and 0.02, respectively). (3) Additional abnormalities are detectable providing new biological insights into different CLL subclasses revealing a much more heterogeneous pattern of cytogenetic abnormalities as assumed so far based on FISH data only. Therefore, prospective clinical trials should evaluate the prognostic impact of newly available CBA data.

  20. Test Anxiety and a High-Stakes Standardized Reading Comprehension Test: A Behavioral Genetics Perspective

    Science.gov (United States)

    Wood, Sarah G.; Hart, Sara A.; Little, Callie W.; Phillips, Beth M.

    2016-01-01

    Past research suggests that reading comprehension test performance does not rely solely on targeted cognitive processes such as word reading, but also on other nontarget aspects such as test anxiety. Using a genetically sensitive design, we sought to understand the genetic and environmental etiology of the association between test anxiety and…

  1. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

    Directory of Open Access Journals (Sweden)

    Tobias Eisenberger

    Full Text Available Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing challenging requiring laborious locus-specific amplification. Increasing evidence suggests a major role for PKD1 in early and severe cases of ADPKD and some patients with a recessive form. Furthermore it is becoming obvious that clinical manifestations can be mimicked by mutations in a number of other genes with the necessity for broader genetic testing. We established and validated a sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1. Thereby, we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. Employing careful and experienced assessment of NGS data, the method is shown to be very specific and equally sensitive as established methods. An additional advantage over conventional Sanger sequencing is the detection of copy number variations (CNVs. Sophisticated bioinformatic read simulation increased the high analytical depth of the validation study and further demonstrated the strength of the approach. We further raise some awareness of limitations and pitfalls of common NGS workflows when applied in complex regions like PKD1 demonstrating that quality of NGS needs more than high coverage of the target region. By this, we propose a time- and cost-efficient diagnostic strategy for comprehensive molecular genetic testing of polycystic kidney disease which is highly automatable and will be of particular value when therapeutic options for PKD emerge and genetic testing is needed for larger numbers of patients.

  2. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

    Science.gov (United States)

    Eisenberger, Tobias; Decker, Christian; Hiersche, Milan; Hamann, Ruben C; Decker, Eva; Neuber, Steffen; Frank, Valeska; Bolz, Hanno J; Fehrenbach, Henry; Pape, Lars; Toenshoff, Burkhard; Mache, Christoph; Latta, Kay; Bergmann, Carsten

    2015-01-01

    Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing challenging requiring laborious locus-specific amplification. Increasing evidence suggests a major role for PKD1 in early and severe cases of ADPKD and some patients with a recessive form. Furthermore it is becoming obvious that clinical manifestations can be mimicked by mutations in a number of other genes with the necessity for broader genetic testing. We established and validated a sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1. Thereby, we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. Employing careful and experienced assessment of NGS data, the method is shown to be very specific and equally sensitive as established methods. An additional advantage over conventional Sanger sequencing is the detection of copy number variations (CNVs). Sophisticated bioinformatic read simulation increased the high analytical depth of the validation study and further demonstrated the strength of the approach. We further raise some awareness of limitations and pitfalls of common NGS workflows when applied in complex regions like PKD1 demonstrating that quality of NGS needs more than high coverage of the target region. By this, we propose a time- and cost-efficient diagnostic strategy for comprehensive molecular genetic testing of polycystic kidney disease which is highly automatable and will be of particular value when therapeutic options for PKD emerge and genetic testing is needed for larger numbers of patients.

  3. Comprehensive bidding strategies with genetic programming/finite state automata

    International Nuclear Information System (INIS)

    Richter, C.W. Jr.; Sheble, G.B.; Ashlock, D.

    1999-01-01

    This research is an extension of the authors' previous work in double auctions aimed at developing bidding strategies for electric utilities which trade electricity competitively. The improvements detailed in this paper come from using data structures which combine genetic programming and finite state automata termed GP-Automata. The strategies developed by the method described here are adaptive--reacting to inputs--whereas the previously developed strategies were only suitable in the particular scenario for which they had been designed. The strategies encoded in the GP-Automata are tested in an auction simulator. The simulator pits them against other distribution companies (distcos) and generation companies (gencos), buying and selling power via double auctions implemented in regional commodity exchanges. The GP-Automata are evolved with a genetic algorithm so that they possess certain characteristics. In addition to designing successful bidding strategies (whose usage would result in higher profits) the resulting strategies can also be designed to imitate certain types of trading behaviors. The resulting strategies can be implemented directly in on-line trading, or can be used as realistic competitors in an off-line trading simulator

  4. A High Precision Comprehensive Evaluation Method for Flood Disaster Loss Based on Improved Genetic Programming

    Institute of Scientific and Technical Information of China (English)

    ZHOU Yuliang; LU Guihua; JIN Juliang; TONG Fang; ZHOU Ping

    2006-01-01

    Precise comprehensive evaluation of flood disaster loss is significant for the prevention and mitigation of flood disasters. Here, one of the difficulties involved is how to establish a model capable of describing the complex relation between the input and output data of the system of flood disaster loss. Genetic programming (GP) solves problems by using ideas from genetic algorithm and generates computer programs automatically. In this study a new method named the evaluation of the grade of flood disaster loss (EGFD) on the basis of improved genetic programming (IGP) is presented (IGPEGFD). The flood disaster area and the direct economic loss are taken as the evaluation indexes of flood disaster loss. Obviously that the larger the evaluation index value, the larger the corresponding value of the grade of flood disaster loss is. Consequently the IGP code is designed to make the value of the grade of flood disaster be an increasing function of the index value. The result of the application of the IGP-EGFD model to Henan Province shows that a good function expression can be obtained within a bigger searched function space; and the model is of high precision and considerable practical significance.Thus, IGP-EGFD can be widely used in automatic modeling and other evaluation systems.

  5. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  6. Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors

    DEFF Research Database (Denmark)

    von Deimling, A; Fimmers, R; Schmidt, M C

    2000-01-01

    Brain tumors pose a particular challenge to molecular oncology. Many different tumor entities develop in the nervous system and some of them appear to follow distinct pathogenic routes. Molecular genetic alterations have increasingly been reported in nervous system neoplasms. However......, a considerable number of affected genes remain to be identified. We present here a comprehensive allelotype analysis of 466 nervous system tumors based on loss of heterozygosity (LOH) studies with 129 microsatellite markers that span the genome. Specific alterations of the EGFR, CDK4, CDKN2A, TP53, DMBT1, NF2...... may provide a valuable framework for future studies to delineate molecular pathways in many types of human central nervous system tumors....

  7. Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

    Science.gov (United States)

    2013-03-14

    behavioral teaching strategies and best practice for teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals...AFRL-SA-WP-TR-2013-0013 Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes...Genetic Mapping for the Discovery of Autism Susceptibility Genes 5a. CONTRACT NUMBER N/A 5b. GRANT NUMBER N/A 5c. PROGRAM ELEMENT NUMBER N/A 6

  8. Cooling tower drift: comprehensive case study

    International Nuclear Information System (INIS)

    Laulainen, N.S.; Ulanski, S.L.

    1979-01-01

    A comprehensive experiment to study drift from mechanical drift cooling towers was conducted during June 1978 at the PG and E Pittsburg Power Plant. The data from this study will be used for validation of drift deposition models. Preliminary results show the effects of tower geometry and orientation with respect to the wind and to single- or two-tower operation. The effect of decreasing relative humidity during a test run can also be seen

  9. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

    Directory of Open Access Journals (Sweden)

    Christina M Lill

    Full Text Available More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD. To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively collects and meta-analyzes all published studies in the field. A systematic literature screen of -27,000 articles yielded 828 eligible articles from which relevant data were extracted. In addition, individual-level data from three publicly available genome-wide association studies (GWAS were obtained and subjected to genotype imputation and analysis. Overall, we performed meta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Meta-analyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls. Eleven loci showed genome-wide significant (P < 5 × 10(-8 association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25. In addition, we identified novel evidence for genome-wide significant association with a polymorphism in ITGA8 (rs7077361, OR 0.88, P  =  1.3 × 10(-8. All meta-analysis results are freely available on a dedicated online database (www.pdgene.org, which is cross-linked with a customized track on the UCSC Genome Browser. Our study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.

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

    Science.gov (United States)

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

    2016-01-01

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

  11. Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.

    Science.gov (United States)

    Parrend, Pierre; Mazzucotelli, Timothée; Colin, Florent; Collet, Pierre; Mandel, Jean-Louis

    2017-11-16

    Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations. Cerberus enables switching from a dual world, where CSP data can be accessed either from the users who entered it or fully de-identified, to an access-when-required world, where patients, practitioners and researchers can access focused medical data through explicit authorisation by the data owner. Efficient access control requires application-specific access rights, as well as the ability to restrict these rights when they are not used. Cerberus is implemented and evaluated in the context of the GENIDA project, an international CSP for Genetically determined Intellectual Disabilities and Autism Spectrum Disorders. As a result of this study, the software is made available for the community, and validated specifications for CSPs are given.

  12. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  13. [A new teaching mode improves the effect of comprehensive experimental teaching of genetics].

    Science.gov (United States)

    Fenghua, He; Jieqiang, Li; Biyan, Zhu; Feng, Gao

    2015-04-01

    To improve the research atmosphere in genetics experimental teaching and develop students' creativity in research, we carried out a reform in comprehensive experimental teaching which is one of important modules for genetics practice. In our new student-centered teaching mode, they chose research topics, performed experiments and took innovative approaches independently. With the open laboratory and technical platform in our experimental teaching center, students finished their experiments and were required to write a mini-research article. Comprehensive experimental teaching is a scientific research practice before they complete their thesis. Through this teaching practice, students' research skills in experimental design and operation, data analysis and results presentation, as well as their collaboration spirit and innovation consciousness are strengthened.

  14. Comprehensive Genetic Characterization of Intraprostatic Chronic Inflammation and Prostate Cancer in African American Men

    Science.gov (United States)

    2017-09-01

    Response and Eradication of Androgen Receptor Amplification with High-dose Testosterone in Prostate Cancer ." Eur Urol 71(6): 997-998. Case Report...34 Prostate -specific Antigen Response and Eradication of Androgen Receptor Amplification with High-dose Testosterone in Prostate Cancer ." Eur Urol 71...AWARD NUMBER: W81XWH-15-1-0379 TITLE: Comprehensive genetic characterization of intraprostatic chronic inflammation and prostate cancer in

  15. Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes

    Science.gov (United States)

    2012-12-05

    teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals and district standard into daily teaching...W403 Columbus, OH 43205 Final Report Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes...QFOXGHDUHDFRGH 1.0 Summary In 2006, the Central Ohio Registry for Autism (CORA) was initiated as a collaboration between Wright-Patterson Air

  16. Humor comprehension and appreciation: an FMRI study.

    Science.gov (United States)

    Bartolo, Angela; Benuzzi, Francesca; Nocetti, Luca; Baraldi, Patrizia; Nichelli, Paolo

    2006-11-01

    Humor is a unique ability in human beings. Suls [A two-stage model for the appreciation of jokes and cartoons. In P. E. Goldstein & J. H. McGhee (Eds.), The psychology of humour. Theoretical perspectives and empirical issues. New York: Academic Press, 1972, pp. 81-100] proposed a two-stage model of humor: detection and resolution of incongruity. Incongruity is generated when a prediction is not confirmed in the final part of a story. To comprehend humor, it is necessary to revisit the story, transforming an incongruous situation into a funny, congruous one. Patient and neuroimaging studies carried out until now lead to different outcomes. In particular, patient studies found that right brain-lesion patients have difficulties in humor comprehension, whereas neuroimaging studies suggested a major involvement of the left hemisphere in both humor detection and comprehension. To prevent activation of the left hemisphere due to language processing, we devised a nonverbal task comprising cartoon pairs. Our findings demonstrate activation of both the left and the right hemispheres when comparing funny versus nonfunny cartoons. In particular, we found activation of the right inferior frontal gyrus (BA 47), the left superior temporal gyrus (BA 38), the left middle temporal gyrus (BA 21), and the left cerebellum. These areas were also activated in a nonverbal task exploring attribution of intention [Brunet, E., Sarfati, Y., Hardy-Bayle, M. C., & Decety, J. A PET investigation of the attribution of intentions with a nonverbal task. Neuroimage, 11, 157-166, 2000]. We hypothesize that the resolution of incongruity might occur through a process of intention attribution. We also asked subjects to rate the funniness of each cartoon pair. A parametric analysis showed that the left amygdala was activated in relation to subjective amusement. We hypothesize that the amygdala plays a key role in giving humor an emotional dimension.

  17. Genetic study on yeast

    International Nuclear Information System (INIS)

    Mortimer, R.K.

    1981-01-01

    Research during the past year has moved ahead on several fronts. A major compilation of all the genetic mapping data for the yeast Saccharomyces cerevisiae has been completed. The map describes the location of over 300 genes on 17 chromosomes. A report on this work will appear in Microbiological Reviews in December 1980. Recombinant DNA procedures have been introduced into the experiments and RAD52 (one of the genes involved in recombination and repair damage), has been successfully cloned. This clone will be used to determine the gene product. Diploid cells homozygous for RAD52 have exceptionally high frequencies of mitotic loss of chromosomes. This loss is stimulated by ionizing radiation. This effect is a very significant finding. The effect has also been seen with certain other RAD mutants

  18. Halifax Lateral Pipeline Project : comprehensive study report

    International Nuclear Information System (INIS)

    1998-12-01

    The National Energy Board has requested the preparation of a comprehensive study report (CSR) for the proposed Halifax Lateral Pipeline Project in support of Maritimes and Northeast Pipeline Company's proposal to construct the lateral pipeline to transport natural gas produced in offshore Nova Scotia to the Tufts Cove electric generating station in the Halifax Regional Municipality. The project will also enhance the access of natural gas to potential markets located along the pipeline route. This CSR was prepared according to guidelines of the Canadian Environmental Assessment Agency. The report presents: (1) an overview of the project, (2) a summary of the regulatory requirements for assessment, (3) a description of the environmental assessment and regulatory process to date, (4) a summary of the predicted residual environmental and socio-economic effects associated with the project, and (5) a summary of the public consultation process. The environmental and socio-economic assessment focused on these eleven issues: groundwater resources, surface water resources, wetlands, soils, air quality, fish habitat, rare herpetiles, mammals, avifauna, rare plants and archaeological heritage resources. The report identified potential interactions between the project and valued socio-economic and environmental components. These were addressed in combination with recommended mitigative measures to reduce potential adverse effects. It was concluded that the overall environmental effects from the proposed project are likely to be minimal and can be effectively managed with good environmental management methods. 14 refs., 5 tabs., 5 figs., 2 appendices

  19. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    OpenAIRE

    Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

    2011-01-01

    Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I?III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. Methods The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLR...

  20. Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges.

    Science.gov (United States)

    Hens, Kristien; Dondorp, Wybo; Handyside, Alan H; Harper, Joyce; Newson, Ainsley J; Pennings, Guido; Rehmann-Sutter, Christoph; de Wert, Guido

    2013-01-01

    Genetic testing of preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Microarray technology is being introduced in both these contexts, and whole genome sequencing of blastomeres is also expeted to become possible soon. The amount of extra information such tests will yield may prove to be beneficial for embryo selection, will also raise various ethical issues. We present an overview of the developments and an agenda-setting exploration of the ethical issues. The paper is a joint endeavour by the presenters at an explorative 'campus meeting' organized by the European Society of Human Reproduction and Embryology in cooperation with the department of Health, Ethics & Society of the Maastricht University (The Netherlands). The increasing amount and detail of information that new screening techniques such as microarrays and whole genome sequencing offer does not automatically coincide with an increasing understanding of the prospects of an embryo. From a technical point of view, the future of comprehensive embryo testing may go together with developments in preconception carrier screening. From an ethical point of view, the increasing complexity and amount of information yielded by comprehensive testing techniques will lead to challenges to the principle of reproductive autonomy and the right of the child to an open future, and may imply a possible larger responsibility of the clinician towards the welfare of the future child. Combinations of preconception carrier testing and embryo testing may solve some of these ethical questions but could introduce others. As comprehensive testing techniques are entering the IVF clinic, there is a need for a thorough rethinking of traditional ethical paradigms regarding medically assisted reproduction.

  1. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.

    Science.gov (United States)

    Ramos, Laia; Daina, Gemma; Del Rey, Javier; Ribas-Maynou, Jordi; Fernández-Encinas, Alba; Martinez-Passarell, Olga; Boada, Montserrat; Benet, Jordi; Navarro, Joaquima

    2015-09-01

    To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation. Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient. Academic center. One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively). A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays. Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed. The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values. Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos. Copyright © 2015. Published by Elsevier Inc.

  2. Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

    Science.gov (United States)

    Patrinos, George P; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E; Macrae, Finlay; Marafie, Makia J; Petersen, Michael B; Qi, Ming; Ramesar, Rajkumar S; Zlotogora, Joel; Cotton, Richard GH

    2011-01-01

    Developing countries have significantly contributed to the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects. Moreover, the recognized depth of genomic variation in indigenous African populations, reflecting the ancient origins of humanity on the African continent, and the effect of selection pressures on the genome, will be valuable in understanding the range of both pathological and nonpathological variations. The involvement of these populations in accurately documenting the extant genetic heterogeneity is more than essential. Developing nations are regarded as key contributors to the Human Variome Project (HVP; http://www.humanvariomeproject.org), a major effort to systematically collect mutations that contribute to or cause human disease and create a cyber infrastructure to tie databases together. However, biomedical research has not been the primary focus in these countries even though such activities are likely to produce economic and health benefits for all. Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data collection. We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 31:1–8, 2010. © 2010 Wiley-Liss, Inc. PMID:21089065

  3. HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis

    OpenAIRE

    Sahajpal, Ruchika; Kandoi, Gaurav; Dhiman, Heena; Raj, Sweety; Scaria, Vinod; Bhartiya, Deeksha; Hasija, Yasha

    2014-01-01

    Abstract Tuberculosis (TB) is an infectious disease caused by fastidious pathogen Mycobacterium tuberculosis. TB has emerged as one of the major causes of mortality in the developing world. Role of host genetic factors that modulate disease susceptibility have not been studied widely. Recent studies have reported few genetic loci that provide impetus to this area of research. The availability of tools has enabled genome-wide scans for disease susceptibility loci associated with infectious dis...

  4. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

    Directory of Open Access Journals (Sweden)

    Masakazu Kohda

    2016-01-01

    Full Text Available Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. More than 250 genes that cause mitochondrial disorders have been reported to date. However exact genetic diagnosis for patients still remained largely unknown. To reveal this heterogeneity, we performed comprehensive genomic analyses for 142 patients with childhood-onset mitochondrial respiratory chain complex deficiencies. The approach includes whole mtDNA and exome analyses using high-throughput sequencing, and chromosomal aberration analyses using high-density oligonucleotide arrays. We identified 37 novel mutations in known mitochondrial disease genes and 3 mitochondria-related genes (MRPS23, QRSL1, and PNPLA4 as novel causative genes. We also identified 2 genes known to cause monogenic diseases (MECP2 and TNNI3 and 3 chromosomal aberrations (6q24.3-q25.1, 17p12, and 22q11.21 as causes in this cohort. Our approaches enhance the ability to identify pathogenic gene mutations in patients with biochemically defined mitochondrial respiratory chain complex deficiencies in clinical settings. They also underscore clinical and genetic heterogeneity and will improve patient care of this complex disorder.

  5. Molecular genetic studies on obligate anaerobic bacteria

    International Nuclear Information System (INIS)

    Woods, D.R.

    1982-01-01

    Molecular genetic studies on obligate anaerobic bacteria have lagged behind similar studies in aerobes. However, the current interest in biotechnology, the involvement of anaerobes in disease and the emergence of antibioticresistant strains have focused attention on the genetics of anaerobes. This article reviews molecular genetic studies in Bacteroides spp., Clostridium spp. and methanogens. Certain genetic systems in some anaerobes differ from those in aerobes and illustrate the genetic diversity among bacteria

  6. Comprehensive genetic analysis of early host body reactions to the bioactive and bio-inert porous scaffolds.

    Directory of Open Access Journals (Sweden)

    Tomo Ehashi

    Full Text Available To design scaffolds for tissue regeneration, details of the host body reaction to the scaffolds must be studied. Host body reactions have been investigated mainly by immunohistological observations for a long time. Despite of recent dramatic development in genetic analysis technologies, genetically comprehensive changes in host body reactions are hardly studied. There is no information about host body reactions that can predict successful tissue regeneration in the future. In the present study, porous polyethylene scaffolds were coated with bioactive collagen or bio-inert poly(2-methacryloyloxyethyl phosphorylcholine-co-n-butyl methacrylate (PMB and were implanted subcutaneously and compared the host body reaction to those substrates by normalizing the result using control non-coat polyethylene scaffold. The comprehensive analyses of early host body reactions to the scaffolds were carried out using a DNA microarray assay. Within numerous genes which were expressed differently among these scaffolds, particular genes related to inflammation, wound healing, and angiogenesis were focused upon. Interleukin (IL-1β and IL-10 are important cytokines in tissue responses to biomaterials because IL-1β promotes both inflammation and wound healing and IL-10 suppresses both of them. IL-1β was up-regulated in the collagen-coated scaffold. Collagen-specifically up-regulated genes contained both M1- and M2-macrophage-related genes. Marked vessel formation in the collagen-coated scaffold was occurred in accordance with the up-regulation of many angiogenesis-inducible factors. The DNA microarray assay provided global information regarding the host body reaction. Interestingly, several up-regulated genes were detected even on the very bio-inert PMB-coated surfaces and those genes include inflammation-suppressive and wound healing-suppressive IL-10, suggesting that not only active tissue response but also the inert response may relates to these genetic

  7. Comprehensive Genetic Analysis of Early Host Body Reactions to the Bioactive and Bio-Inert Porous Scaffolds

    Science.gov (United States)

    Ehashi, Tomo; Takemura, Taro; Hanagata, Nobutaka; Minowa, Takashi; Kobayashi, Hisatoshi; Ishihara, Kazuhiko; Yamaoka, Tetsuji

    2014-01-01

    To design scaffolds for tissue regeneration, details of the host body reaction to the scaffolds must be studied. Host body reactions have been investigated mainly by immunohistological observations for a long time. Despite of recent dramatic development in genetic analysis technologies, genetically comprehensive changes in host body reactions are hardly studied. There is no information about host body reactions that can predict successful tissue regeneration in the future. In the present study, porous polyethylene scaffolds were coated with bioactive collagen or bio-inert poly(2-methacryloyloxyethyl phosphorylcholine-co-n-butyl methacrylate) (PMB) and were implanted subcutaneously and compared the host body reaction to those substrates by normalizing the result using control non-coat polyethylene scaffold. The comprehensive analyses of early host body reactions to the scaffolds were carried out using a DNA microarray assay. Within numerous genes which were expressed differently among these scaffolds, particular genes related to inflammation, wound healing, and angiogenesis were focused upon. Interleukin (IL)-1β and IL-10 are important cytokines in tissue responses to biomaterials because IL-1β promotes both inflammation and wound healing and IL-10 suppresses both of them. IL-1β was up-regulated in the collagen-coated scaffold. Collagen-specifically up-regulated genes contained both M1- and M2-macrophage-related genes. Marked vessel formation in the collagen-coated scaffold was occurred in accordance with the up-regulation of many angiogenesis-inducible factors. The DNA microarray assay provided global information regarding the host body reaction. Interestingly, several up-regulated genes were detected even on the very bio-inert PMB-coated surfaces and those genes include inflammation-suppressive and wound healing-suppressive IL-10, suggesting that not only active tissue response but also the inert response may relates to these genetic regulations. PMID:24454803

  8. A developmental study of proverb comprehension.

    Science.gov (United States)

    Resnick, D A

    1982-09-01

    Growth in proverb comprehension was hypothesized to result from the gradual emergence of cognitive abilities reflected in a sequence of increasingly complex abilities: story matching, transfer of relations, desymbolization, proverb matching, and paraphrase. Items for these abilities for each of 10 proverbs of two structural types were administered in three test sessions to 438 students in grades three to seven. An analogy subtest was used to measure general intelligence. ANOVA yielded significant main effects for grade, tasks, and proverbs (all p's less than .01). A significant task x proverb interaction (p less than .01) revealed the difficulty of precise control over the language of the items. Proverb structure had no measurable impact on difficulty. Analogy score was a significant factor in performance (p less than .01) but not as potent as age (p less than .01). The sequential order of abilities received only weak confirmation, though tasks did correlate among themselves with medium strength (r's = .50-.70). Individual interviews added a qualitative dimension to the findings. The suitability of cognitive hierarchical models for proverb comprehension was questioned.

  9. Methodological issues of genetic association studies.

    Science.gov (United States)

    Simundic, Ana-Maria

    2010-12-01

    Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.

  10. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

    Science.gov (United States)

    Morgan, Sarah; Shatunov, Aleksey; Sproviero, William; Jones, Ashley R; Shoai, Maryam; Hughes, Deborah; Al Khleifat, Ahmad; Malaspina, Andrea; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Sidle, Katie; Orrell, Richard W; Fratta, Pietro; Hardy, John; Pittman, Alan; Al-Chalabi, Ammar

    2017-06-01

    Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2. We found 11 patients (1%) carried more than one pathogenic variant (P = 0.001) consistent with an oligogenic basis of amyotrophic lateral sclerosis. These findings show that the genetic architecture of amyotrophic lateral sclerosis is complex and that variation in the regulatory regions of associated genes may be important in disease pathogenesis. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  11. Mobile Genome Express (MGE: A comprehensive automatic genetic analyses pipeline with a mobile device.

    Directory of Open Access Journals (Sweden)

    Jun-Hee Yoon

    Full Text Available The development of next-generation sequencing (NGS technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  12. Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

    Science.gov (United States)

    Yoon, Jun-Hee; Kim, Thomas W; Mendez, Pedro; Jablons, David M; Kim, Il-Jin

    2017-01-01

    The development of next-generation sequencing (NGS) technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE) that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  13. Life cycle assessment of genetically modified products as a basis for a comprehensive assessment of possible environmental effects

    International Nuclear Information System (INIS)

    Kloepffer, W.; Renner, I.; Schmidt, E.; Tappeser, B.; Gensch, C.O.; Gaugitsch, H.

    2001-01-01

    In the preceding project 'Life Cycle Assessment of genetically modified products as a basis for a comprehensive assessment of possible environmental effects' for the first time the risks of deliberate release of genetically modified organisms (GMOs) into the environment have been taken into account in a Life Cycle Assessment (LCA). This was performed by a risk assessment in addition to a quantitative impact assessment. As from a methodological perspective this was not satisfactory, the Federal Environment Agency commissioned the C.A.U. GmbH and the Institute of Applied Ecology Freiburg to further develop the impact assessment methodology for the risks of GMOs. Any further development of the methodology of impact assessment in LCAs has to be performed on the basis of the standard EN/ISO 14042. There are 2 options for taking into account risks of deliberate release of GMOs: 1. allocation of the potential effects resulting from the genetic modification on human beings and the environment to existing categories of the impact assessment and attempt to quantify within those existing methods of characterization; 2. development of a new category, e.g. 'effects of genetically modified crop plants'. In order to asses the possibilities under option 1 various models of characterization within the categories human toxicity, ecotoxicity and land use (appropriation of environmental space) have been analyzed. The risks of GMOs identified and dealt with in the preceding study were allocated to these categories. It seemed to be impossible to integrate the risks in existing models of characterization for human toxicity and ecotoxicity, as these are based on exposure and impact factors. The development of a factor for exposure seems possible for GMOs, however a suitable impact factor is not possible to generate. In addition it was analyzed if in other impact categories which are difficult to quantify any solutions for operationalization exist. This does not seem to be the case. As a

  14. Studies in genetic discrimination. Final progress report

    Energy Technology Data Exchange (ETDEWEB)

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  15. 78 FR 36753 - North Atlantic Coast Comprehensive Study

    Science.gov (United States)

    2013-06-19

    ... Disaster Relief Appropriations Act, Public Law 113-2, are to (1) reduce flood risk to vulnerable coastal... measure. The Comprehensive Study will also include storm suite modeling, coastal GIS analyses, economic...

  16. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

    Science.gov (United States)

    Melo, Débora Gusmão; de Paula, Pamela Karen; de Araujo Rodrigues, Stephania; da Silva de Avó, Lucimar Retto; Germano, Carla Maria Ramos; Demarzo, Marcelo Marcos Piva

    2015-07-01

    As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.

  17. Readers Theatre plus Comprehension and Word Study

    Science.gov (United States)

    Young, Chase; Stokes, Faida; Rasinski, Timothy

    2017-01-01

    Readers Theatre has been used to introduce critical issues, promote fluency among English learners and non-English learners, teach vocabulary, and integrate content in the classroom. Previous studies of Readers Theatre application have demonstrated an increase in student reading fluency, motivation, and confidence. The focus of this systemic…

  18. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  19. A comprehensive study of methyl decanoate pyrolysis

    International Nuclear Information System (INIS)

    Pyl, Steven P.; Van Geem, Kevin M.; Puimège, Philip; Sabbe, Maarten K.; Reyniers, Marie-Françoise; Marin, Guy B.

    2012-01-01

    The thermal decomposition of methyl decanoate (MD) was studied in a bench-scale pyrolysis set-up equipped with a dedicated on-line analysis section including a GC × GC-FID/(TOF-MS). This analysis section enables quantitative and qualitative on-line analyses of the entire reactor effluent with high level of detail including measurement of formaldehyde and water. The reactor temperature was varied from 873 K to 1123 K at a fixed pressure of 1.7 bar and a fixed residence time of 0.5 s, for both high (10mol N 2 /mol MD ) and low (0.6mol N 2 /mol MD ) nitrogen dilution. Thus covering a wide conversion range in both dilution regimes. In these experiments, significant amounts of large linear olefins and unsaturated esters were observed at lower temperatures, the amounts of which decreased at higher temperatures in favor of permanent gasses (CO, CO 2 , CH 4 ) and light olefins. At the highest temperatures more than 5 wt% of mono-aromatic and poly-aromatic components were observed. The acquired dataset was used to validate 3 recently published microkinetic models which were developed to model oxidation and/or pyrolysis of methyl decanoate. The results showed that these models accurately predict the product distribution, although important discrepancies were observed for some major products such as certain unsaturated esters, CO 2 and H 2 O. Reaction path analyses and CBS-QB3 quantum-chemical calculations are presented and discussed in order to explain the observed differences. -- Highlights: ► New extensive experimental dataset for the pyrolysis of methyl decanoate in a tubular reactor. ► A dedicated separation section including on-line GC × GC allows to obtain quantitative data for over 150 components. ► High level ab-initio calculations for important reactions of the methyl decanoate decomposition. ► Identification of missing reactions/reaction families/inaccurate kinetics in the presently available kinetic models.

  20. Follow-up study on reading comprehension in Down's syndrome: the role of reading skills and listening comprehension.

    Science.gov (United States)

    Roch, Maja; Florit, Elena; Levorato, Chiara

    2011-01-01

    According to the 'Simple View of Reading', reading comprehension requires some abilities such as reading skill and listening comprehension. Individuals with Down's syndrome show relative strengths in reading skills, mainly in word recognition, where they attain a reading age of about 7-8 years. Compared with word recognition, their reading comprehension is usually delayed by at least 6 months. Poor reading comprehension is paralleled by weak listening comprehension. It is claimed that poor listening comprehension might constrain the development of reading comprehension and, therefore, be a cause for the asynchrony between reading skills and reading comprehension. A follow-up study was carried out in order to analyse the improvements in reading skills, listening and reading text comprehension, and to support the hypothesis of a causal relationship between listening and reading comprehension. Ten children and adolescents with Down's syndrome, aged between 11 years 3 months and 19 years 10 months, were assessed twice over a one-year period as to their reading skills, listening and reading text comprehension. Three main findings emerged: (1) reading skills, on the one hand, and comprehension (both listening and reading), on the other hand, are independent; (2) reading comprehension development is determined mainly by listening comprehension, which in the present study proved to be very poor; and (3) an improvement after a one-year period, even though limited, occurred for all examined abilities except for listening comprehension. The results are discussed in the light of the theoretical framework of the 'Simple View of Reading' and of their relevance for practical and educational issues. © 2011 Royal College of Speech & Language Therapists.

  1. Genetic study of intracranial aneurysms.

    Science.gov (United States)

    Yan, Junxia; Hitomi, Toshiaki; Takenaka, Katsunobu; Kato, Masayasu; Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H; Koizumi, Akio

    2015-03-01

    Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, leading to immediate death or severe disability. Identification of the genetic factors involved is critical for disease prevention and treatment. We aimed to identify the susceptibility genes for IAs. Exome sequencing was performed in 12 families with histories of multiple cases of IA (number of cases per family ≥3), with a total of 42 cases. Various filtering strategies were used to select the candidate variants. Replicate association studies of several candidate variants were performed in probands of 24 additional IA families and 426 sporadic IA cases. Functional analysis for the mutations was conducted. After sequencing and filtering, 78 variants were selected for the following reasons: allele frequencies of variants in 42 patients was significantly (PIA within ≥1 family; variants predicted damage to the structure or function of the protein by PolyPhen-2 (Polymorphism Phenotyping V2) and SIFT (Sorting Intolerance From Tolerant). We selected 10 variants from 9 genes (GPR63, ADAMST15, MLL2, IL10RA, PAFAH2, THBD, IL11RA, FILIP1L, and ZNF222) to form 78 candidate variants by considering commonness in families, known disease genes, or ontology association with angiogenesis. Replicate association studies revealed that only p.E133Q in ADAMTS15 was aggregated in the familial IA cases (odds ratio, 5.96; 95% confidence interval, 2.40-14.82; P=0.0001; significant after the Bonferroni correction [P=0.05/78=0.0006]). Silencing ADAMTS15 and overexpression of ADAMTS15 p.E133Q accelerated endothelial cell migration, suggesting that ADAMTS15 may have antiangiogenic activity. ADAMTS15 is a candidate gene for IAs. © 2015 American Heart Association, Inc.

  2. Gene set analysis for interpreting genetic studies

    DEFF Research Database (Denmark)

    Pers, Tune H

    2016-01-01

    Interpretation of genome-wide association study (GWAS) results is lacking behind the discovery of new genetic associations. Consequently, there is an urgent need for data-driven methods for interpreting genetic association studies. Gene set analysis (GSA) can identify aetiologic pathways...

  3. Comprehensive Stuttering Treatment for Adolescents: A Case Study.

    Science.gov (United States)

    Coleman, Craig E

    2018-01-09

    This article will focus on a hypothetical case study to highlight comprehensive assessment and treatment for adolescent children who stutter. Assessment and treatment are laid out with a literature review utilizing the components of the International Classification of Functioning, Disability and Health model. Specific assessment and treatment strategies and approaches are discussed. Using the International Classification of Functioning, Disability and Health model can help guide clinicians through the assessment and treatment process to ensure that all areas of stuttering are considered. Comprehensive assessment and treatment helps clinicians address all relevant elements of a stuttering disorder, rather than focusing exclusively on reducing speech disruptions.

  4. 78 FR 61844 - North Atlantic Coast Comprehensive Study

    Science.gov (United States)

    2013-10-04

    ...: The U.S. Army Corps of Engineers (USACE) is requesting peer reviewed information that would be useful in the preparation of the North Atlantic Coast Comprehensive Study (Hurricane Sandy). The USACE is... information by electronic mail to: [email protected] . Please include your name and contact information in...

  5. Comprehensive Stuttering Treatment or Adolescents: A Case Study

    Science.gov (United States)

    Coleman, Craig E.

    2018-01-01

    Purpose: This article will focus on a hypothetical case study to highlight comprehensive assessment and treatment for adolescent children who stutter. Method: Assessment and treatment are laid out with a literature review utilizing the components of the International Classification of Functioning, Disability and Health model. Specific assessment…

  6. Ciclo Basico Polivalente (Basic Comprehensive Courses of Study).

    Science.gov (United States)

    Boletin del Centro Nacional de Documentacion e Informacion Educativa, 1970

    1970-01-01

    This article discusses the creation of comprehensive secondary schools in Argentina to meet the diversified goals of the population in any given geographical region. The plan described here provides for the creation of several basic-study cycles within one school so that students may pursue courses in commercial, technical, and academic fields.…

  7. Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

    Science.gov (United States)

    Woon, See-Tarn; Ameratunga, Rohan

    2016-01-01

    New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

  8. DOG-SPOT database for comprehensive management of dog genetic research data

    Directory of Open Access Journals (Sweden)

    Sutter Nathan B

    2010-12-01

    Full Text Available Abstract Research laboratories studying the genetics of companion animals have no database tools specifically designed to aid in the management of the many kinds of data that are generated, stored and analyzed. We have developed a relational database, "DOG-SPOT," to provide such a tool. Implemented in MS-Access, the database is easy to extend or customize to suit a lab's particular needs. With DOG-SPOT a lab can manage data relating to dogs, breeds, samples, biomaterials, phenotypes, owners, communications, amplicons, sequences, markers, genotypes and personnel. Such an integrated data structure helps ensure high quality data entry and makes it easy to track physical stocks of biomaterials and oligonucleotides.

  9. A comparative phylogenetic study of genetics and folk music.

    Science.gov (United States)

    Pamjav, Horolma; Juhász, Zoltán; Zalán, Andrea; Németh, Endre; Damdin, Bayarlkhagva

    2012-04-01

    Computer-aided comparison of folk music from different nations is one of the newest research areas. We were intrigued to have identified some important similarities between phylogenetic studies and modern folk music. First of all, both of them use similar concepts and representation tools such as multidimensional scaling for modelling relationship between populations. This gave us the idea to investigate whether these connections are merely accidental or if they mirror population migrations from the past. We raised the question; does the complex structure of musical connections display a clear picture and can this system be interpreted by the genetic analysis? This study is the first to systematically investigate the incidental genetic background of the folk music context between different populations. Paternal (42 populations) and maternal lineages (56 populations) were compared based on Fst genetic distances of the Y chromosomal and mtDNA haplogroup frequencies. To test this hypothesis, the corresponding musical cultures were also compared using an automatic overlap analysis of parallel melody styles for 31 Eurasian nations. We found that close musical relations of populations indicate close genetic distances (music; maternal lineages have a more important role in folk music traditions than paternal lineages. Furthermore, the combination of these disciplines establishing a new interdisciplinary research field of "music-genetics" can be an efficient tool to get a more comprehensive picture on the complex behaviour of populations in prehistoric time.

  10. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.

    Science.gov (United States)

    Rubinstein, Wendy S; Maglott, Donna R; Lee, Jennifer M; Kattman, Brandi L; Malheiro, Adriana J; Ovetsky, Michael; Hem, Vichet; Gorelenkov, Viatcheslav; Song, Guangfeng; Wallin, Craig; Husain, Nora; Chitipiralla, Shanmuga; Katz, Kenneth S; Hoffman, Douglas; Jang, Wonhee; Johnson, Mark; Karmanov, Fedor; Ukrainchik, Alexander; Denisenko, Mikhail; Fomous, Cathy; Hudson, Kathy; Ostell, James M

    2013-01-01

    The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).

  11. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

    Science.gov (United States)

    Tsangaris, E; Klaassen, R; Fernandez, C V; Yanofsky, R; Shereck, E; Champagne, J; Silva, M; Lipton, J H; Brossard, J; Michon, B; Abish, S; Steele, M; Ali, K; Dower, N; Athale, U; Jardine, L; Hand, J P; Odame, I; Canning, P; Allen, C; Carcao, M; Beyene, J; Roifman, C M; Dror, Y

    2011-09-01

    Inherited bone marrow failure syndromes (IBMFSs) often have substantial phenotypic overlap, thus genotyping is often critical for establishing a diagnosis. To determine the genetic characteristics and mutation profiles of IBMFSs, a comprehensive population-based study that prospectively enrols all typical and atypical cases without bias is required. The Canadian Inherited Marrow Failure Study is such a study, and was used to extract clinical and genetic information for patients enrolled up to May 2010. Among the 259 primary patients with IBMFS enrolled in the study, the most prevalent categories were Diamond-Blackfan anaemia (44 patients), Fanconi anaemia (39) and Shwachman-Diamond syndrome (35). The estimated incidence of the primary IBMFSs was 64.5 per 10(6) births, with Fanconi anaemia having the highest incidence (11.4 cases per 10(6) births). A large number of patients (70) had haematological and non-haematological features that did not fulfil the diagnostic criteria of any specific IBMFS category. Disease-causing mutations were identified in 53.5% of the 142 patients tested, and in 16 different genes. Ten novel mutations in SBDS, RPL5, FANCA, FANCG, MPL and G6PT were identified. The most common mutations were nonsense (31 alleles) and splice site (28). Genetic heterogeneity of most IBMFSs was evident; however, the most commonly mutated gene was SBDS, followed by FANCA and RPS19. From this the largest published comprehensive cohort of IBMFSs, it can be concluded that recent advances have led to successful genotyping of about half of the patients. Establishing a genetic diagnosis is still challenging and there is a critical need to develop novel diagnostic tools.

  12. Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

    Science.gov (United States)

    Paththinige, C S; Sirisena, N D; Dissanayake, Vhw

    2017-06-02

    Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. This indicates the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia and suggests a polygenic inheritance of this condition. Here in, we review the recent evidence of association of the genetic variants with hypercholesterolemia and the three lipid traits; total cholesterol (TC), HDL-cholesterol (HDL-C) and LDL-cholesterol (LDL-C), their biological pathways and the associated pathogenetic mechanisms. Nearly 80 genes involved in lipid metabolism (encoding structural components of lipoproteins, lipoprotein receptors and related proteins, enzymes, lipid transporters, lipid transfer proteins, and activators or inhibitors of protein function and gene transcription) with single nucleotide variants (SNVs) that are recognized to be associated with hypercholesterolemia and serum lipid traits in genome-wide association studies and candidate gene studies were identified. In addition, genome-wide association studies in different populations have identified SNVs associated with TC, HDL-C and LDL-C in nearly 120 genes within or in the vicinity of the genes that are not known to be involved in lipid metabolism. Over 90% of the SNVs in both these groups are located outside the coding regions of the genes. These findings indicates that there might be a considerable number of unrecognized processes and mechanisms of lipid homeostasis, which when disrupted, would lead to hypercholesterolemia. Knowledge of these molecular pathways will enable the discovery of novel treatment and preventive methods as well as

  13. A comprehensive study of sparse codes on abnormality detection

    DEFF Research Database (Denmark)

    Ren, Huamin; Pan, Hong; Olsen, Søren Ingvor

    2017-01-01

    Sparse representation has been applied successfully in abnor-mal event detection, in which the baseline is to learn a dic-tionary accompanied by sparse codes. While much empha-sis is put on discriminative dictionary construction, there areno comparative studies of sparse codes regarding abnormal-ity...... detection. We comprehensively study two types of sparsecodes solutions - greedy algorithms and convex L1-norm so-lutions - and their impact on abnormality detection perfor-mance. We also propose our framework of combining sparsecodes with different detection methods. Our comparative ex-periments are carried...

  14. A review of the studies on listening comprehension in the second language

    OpenAIRE

    Fukuda, Michiko

    2003-01-01

    Few studies have been done on the listening comprehension processing, especially in second language. However, recent studies show that listening comprehension is considered as an active and cognitive process. This paper overviews studies on listening comprehension in the second language by presenting some models of listening comprehension processing. Then, listening comprehension was studied from cognitive psychology and educational point of view. Finally, the direction of future researches o...

  15. Prediction of the development of reading comprehension: a longitudinal study

    NARCIS (Netherlands)

    Verhoeven, L.T.W.; Leeuwe, J.F.J. van

    2008-01-01

    Specific effects of word decoding, vocabulary and listening comprehension abilities on the development of reading comprehension were longitudinally examined for a representative sample of 2143 Dutch children throughout the elementary school period. An attempt was made to test two theoretical

  16. Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis.

    Directory of Open Access Journals (Sweden)

    Silvia Pineda

    Full Text Available Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway in cancer genetic susceptibility. However, variants in other related genes, including TP53 rs1042522 (Arg72Pro, still present controversial results. We carried out an in depth assessment of associations between common germline variants in the TP53 pathway and bladder cancer risk.We investigated 184 tagSNPs from 18 genes in 1,058 cases and 1,138 controls from the Spanish Bladder Cancer/EPICURO Study. Cases were newly-diagnosed bladder cancer patients during 1998-2001. Hospital controls were age-gender, and area matched to cases. SNPs were genotyped in blood DNA using Illumina Golden Gate and TaqMan assays. Cases were subphenotyped according to stage/grade and tumor p53 expression. We applied classical tests to assess individual SNP associations and the Least Absolute Shrinkage and Selection Operator (LASSO-penalized logistic regression analysis to assess multiple SNPs simultaneously.Based on classical analyses, SNPs in BAK1 (1, IGF1R (5, P53AIP1 (1, PMAIP1 (2, SERINPB5 (3, TP63 (3, and TP73 (1 showed significant associations at p-value≤0.05. However, no evidence of association, either with overall risk or with specific disease subtypes, was observed after correction for multiple testing (p-value≥0.8. LASSO selected the SNP rs6567355 in SERPINB5 with 83% of reproducibility. This SNP provided an OR = 1.21, 95%CI 1.05-1.38, p-value = 0.006, and a corrected p-value = 0.5 when controlling for over-estimation.We found no strong evidence that common variants in the TP53 pathway are associated with bladder cancer susceptibility. Our study suggests that it is unlikely that TP53 Arg72Pro is implicated in the UCB in white Europeans. SERPINB5 and TP63 variation deserve further exploration in extended studies.

  17. An overview of posttraumatic stress disorder genetic studies by analyzing and integrating genetic data into genetic database PTSDgene

    NARCIS (Netherlands)

    Zhang, Kunlin; Qu, Susu; Chang, Suhua; Li, Gen; Cao, Chengqi; Fang, Kechi; Olff, Miranda; Wang, Li; Wang, Jing

    2017-01-01

    Posttraumatic stress disorder (PTSD) is a debilitating psychiatric syndrome with complex etiology. Studies aiming to explore genetic susceptibility and environmental triggers of PTSD have been increasing. However, the results are limited and highly heterogeneous. To understand the genetic study

  18. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    Science.gov (United States)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.

  19. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  20. Understanding Salesforce Behavior using Genetic Association Studies

    NARCIS (Netherlands)

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of

  1. India, a paradise for Genetic Studies

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. India, a paradise for Genetic Studies. The second land to be occupied by man. Human settlements & expansion 50,000 years. Sub-divided Gene pool, Nature's experiment. Sympatrically isolated gene pools. (living in the same place without mixing). may be ...

  2. A view of studies on listening comprehension within the theory of working memory

    OpenAIRE

    福田, 倫子

    2004-01-01

    The present paper discusses four aspects : (1) the relation between the process of language comprehension and working memory, (2) overview of studies on working memory model, (3) application of the working memory to studies of listening comprehension in previous studies, (4) potentiality of application of the working memory model to studies of listening comprehension of second language acquisition.

  3. Comprehensive studies on irradiated single-crystal diamond sensors

    Energy Technology Data Exchange (ETDEWEB)

    Stegler, Martin [DESY, Zeuthen (Germany)

    2015-07-01

    Single-crystal diamond sensors are used as part of the Beam and Radiation Instrumentation and Luminosity (BRIL) projects of the CMS experiment. Due to an upgrade of the Fast Beam Conditions Monitor (BCM1F) these diamond sensors are exchanged and the irradiated ones are now used for comprehensive studies. Current over voltage (IV), current over time (CT) and charge collection efficiency (CCE) measurements were performed for a better understanding of the radiation damage incurred during operation and to compensate in the future. The effect of illumination with various light sources on the charge collection efficiency was investigated and led to interesting results. Intensity and wavelength of the light were varied for deeper insight of polarization effects.

  4. Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma

    International Nuclear Information System (INIS)

    Rumbajan, Janette Mareska; Aoki, Shigehisa; Kohashi, Kenichi; Oda, Yoshinao; Hata, Kenichiro; Saji, Tsutomu; Taguchi, Tomoaki; Tajiri, Tatsuro; Soejima, Hidenobu; Joh, Keiichiro; Maeda, Toshiyuki; Souzaki, Ryota; Mitsui, Kazumasa; Higashimoto, Ken; Nakabayashi, Kazuhiko; Yatsuki, Hitomi; Nishioka, Kenichi; Harada, Ryoko

    2013-01-01

    Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors. The methylation statuses of 33 imprinted DMRs were analyzed in 12 hepatoblastomas and adjacent normal liver tissue by MALDI-TOF MS and pyrosequencing. Uniparental disomy (UPD) and copy number abnormalities were investigated with DNA polymorphisms. Among 33 DMRs analyzed, 18 showed aberrant methylation in at least 1 tumor. There was large deviation in the incidence of aberrant methylation among the DMRs. KvDMR1 and IGF2-DMR0 were the most frequently hypomethylated DMRs. INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. Hypomethylation was observed at certain DMRs not only in tumors but also in a small number of adjacent histologically normal liver tissue, whereas hypermethylation was observed only in tumor samples. The methylation levels of long interspersed nuclear element-1 (LINE-1) did not show large differences between tumor tissue and normal liver controls. Chromosomal abnormalities were also found in some tumors. 11p15.5 and 20q13.3 loci showed the frequent occurrence of both genetic and epigenetic alterations. Our analyses revealed tumor-specific aberrant hypermethylation at some imprinted DMRs in 12 hepatoblastomas with additional suggestion for the possibility of hypomethylation prior to tumor development. Some loci showed both genetic and epigenetic alterations with high frequencies. These findings will aid in understanding the development of hepatoblastoma

  5. Reading Comprehension and Tolerance against Comprehension Ambiguities: An Empirical Study of Iranian GFL-Learners in Communicative Education

    Science.gov (United States)

    Haghani, Nader; Bahmannejad, Fereshteh

    2018-01-01

    The present study examines the influence of ambiguity tolerance on the performance of Iranian GFL-learners (Note 1) at level B1 in the processing of gap-filling-text tests. It is assumed that learners with more tolerance of ambiguity achieve better results in the reading comprehension or in the contextual guessing of the omitted words. 34 GFL…

  6. Molecular genetic studies of bacteroides fragilis

    International Nuclear Information System (INIS)

    Southern, J.A.

    1986-03-01

    This study aimed at providing a means for probing the molecular genetic organization of B.fragilis, particularly those strains where the DNA repair mechanisms had been described. The following routes of investigation were followed: the bacteriocin of B.fragilis BF-1; the investigation of any plasmids which might be discovered, with the aim of constructing a hybrid plasmid which might replicate in both E.coli and B.fragilis; and the preparation of a genetic library which could be screened for Bacteroides genes which might function in E.coli. Should any genes be isolated by screening the library they were to be studied with regard to their expression and regulation in E.coli. The above assays make use of radioactive markers such as 14 C, 35 S, 32 P, and 3 H in the labelling of RNA, plasmids and probes

  7. A comprehensive combustion chemistry study of 2,5-dimethylhexane

    KAUST Repository

    Sarathy, Mani

    2014-06-01

    Iso-paraffinic molecular structures larger than seven carbon atoms in chain length are commonly found in conventional petroleum, Fischer-Tropsch (FT), and other alternative hydrocarbon fuels, but little research has been done on their combustion behavior. Recent studies have focused on either mono-methylated alkanes and/or highly branched compounds (e.g., 2,2,4-trimethylpentane). In order to better understand the combustion characteristics of real fuels, this study presents new experimental data for the oxidation of 2,5-dimethylhexane under a wide variety of temperature, pressure, and equivalence ratio conditions. This new dataset includes jet stirred reactor speciation, shock tube ignition delay, and rapid compression machine ignition delay, which builds upon recently published data for counterflow flame ignition, extinction, and speciation profiles. The low and high temperature oxidation of 2,5-dimethylhexane has been simulated with a comprehensive chemical kinetic model developed using established reaction rate rules. The agreement between the model and data is presented, along with suggestions for improving model predictions. The oxidation behavior of 2,5-dimethylhexane is compared with oxidation of other octane isomers to confirm the effects of branching on low and intermediate temperature fuel reactivity. The model is used to elucidate the structural features and reaction pathways responsible for inhibiting the reactivity of 2,5-dimethylhexane. © 2014 The Combustion Institute.

  8. A comprehensive combustion chemistry study of 2,5-dimethylhexane

    KAUST Repository

    Sarathy, Mani; Javed, Tamour; Karsenty, Florent; Heufer, Alexander; Wang, Weijing; Park, Sungwoo; Elwardani, Ahmed Elsaid; Farooq, Aamir; Westbrook, Charles K.; Pitz, William J.; Oehlschlaeger, Matthew A.; Dayma, Guillaume; Curran, Henry J.; Dagaut, P.

    2014-01-01

    Iso-paraffinic molecular structures larger than seven carbon atoms in chain length are commonly found in conventional petroleum, Fischer-Tropsch (FT), and other alternative hydrocarbon fuels, but little research has been done on their combustion behavior. Recent studies have focused on either mono-methylated alkanes and/or highly branched compounds (e.g., 2,2,4-trimethylpentane). In order to better understand the combustion characteristics of real fuels, this study presents new experimental data for the oxidation of 2,5-dimethylhexane under a wide variety of temperature, pressure, and equivalence ratio conditions. This new dataset includes jet stirred reactor speciation, shock tube ignition delay, and rapid compression machine ignition delay, which builds upon recently published data for counterflow flame ignition, extinction, and speciation profiles. The low and high temperature oxidation of 2,5-dimethylhexane has been simulated with a comprehensive chemical kinetic model developed using established reaction rate rules. The agreement between the model and data is presented, along with suggestions for improving model predictions. The oxidation behavior of 2,5-dimethylhexane is compared with oxidation of other octane isomers to confirm the effects of branching on low and intermediate temperature fuel reactivity. The model is used to elucidate the structural features and reaction pathways responsible for inhibiting the reactivity of 2,5-dimethylhexane. © 2014 The Combustion Institute.

  9. Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

    Directory of Open Access Journals (Sweden)

    Xiaochen Yang

    Full Text Available The genetic etiology of hereditary breast cancer has not been fully elucidated. Although germline mutations of high-penetrance genes such as BRCA1/2 are implicated in development of hereditary breast cancers, at least half of all breast cancer families are not linked to these genes. To identify a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population, we performed an analysis of germline mutations in 2,165 coding exons of 152 genes associated with hereditary cancer using next-generation sequencing (NGS in 99 breast cancer patients from families of cancer patients regardless of cancer types. Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (18.2% BRCA1 or BRCA2 mutations, 3 (3% TP53 mutations, 5 (5.1% DNA mismatch repair gene mutations, 1 (1% CDH1 mutation, 6 (6.1% Fanconi anemia pathway gene mutations, and 9 (9.1% mutations in other genes. Of seven patients who carried mutations in more than one gene, 4 were BRCA1/2 mutation carriers, and their average onset age was much younger than patients with only BRCA1/2 mutations. Almost all identified high-penetrance gene mutations in those families fulfill the typical phenotypes of hereditary cancer syndromes listed in the National Comprehensive Cancer Network (NCCN guidelines, except two TP53 and three mismatch repair gene mutations. Furthermore, functional studies of MSH3 germline mutations confirmed the association between MSH3 mutation and tumorigenesis, and segregation analysis suggested antagonism between BRCA1 and MSH3. We also identified a lot of low-penetrance gene mutations. Although the clinical significance of those newly identified low-penetrance gene mutations has not been fully appreciated yet, these new findings do provide valuable epidemiological information for the future studies. Together, these findings highlight the importance of genetic testing based on NCCN guidelines and a multi-gene analysis

  10. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

    Science.gov (United States)

    Stenson, Peter D; Mort, Matthew; Ball, Edward V; Shaw, Katy; Phillips, Andrew; Cooper, David N

    2014-01-01

    The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

  11. Deep Panuke offshore gas development comprehensive study report : Executive summary

    International Nuclear Information System (INIS)

    2002-10-01

    A project was proposed by EnCana Corporation (EnCana) for the development of the Deep Panuke Offshore Gas Development Project. Located offshore the Scotian Shelf, approximately 175 kilometres southeast of Goldboro, Nova Scotia and 250 kilometres southeast of Halifax, the development of this natural gas reservoir would allow EnCana to derive economic benefit from licences issued under the Canada-Nova Scotia Offshore Petroleum Resources Accord Implementation Act and the Canada-Nova Scotia Offshore Petroleum Resources Accord Implementation (Nova Scotia) Act. The Canadian Environmental Assessment Act required that a comprehensive study report be prepared, and the results were presented in this document. Consisting of three bottom-founded platforms in a water depth of approximately 40 metres, the wellhead platform would be used for dry wellheads, wellhead control system, and production manifolds. All power generation and processing equipment would be located on the production platform, and the accommodations platform would consist of the utilities, helicopter landing pad, refueling station and crew accommodations. It was determined that the Deep Panuke project was unlikely to result in adverse environmental effects. The offshore oil and gas industry in Atlantic Canada would benefit from this development as a result of the establishment of a viable facility and operation

  12. Building a comprehensive geriatric health care system: a case study.

    Science.gov (United States)

    Bleiweiss, L; Simson, S

    1976-01-01

    This case study focuses on the efforts of three urban medical care institutions--a Health Maintenance Organization, a nursing home, and a university hospital--to form an interorganizational relationship. The purpose of the relationship was to utilize the services of the three organizations in order to respond to the comprehensive health needs of an urban geriatric population. Movements in this triadic organizational relationship are described and analyzed in terms of four conceptual stages--exploration, negotiation, interaction and performance, and termination. Problems arising during these stages were not resolved and the relationship was terminated after approximately two years of existence. A sociological discussion of the case focuses on why the relationship failed. The organizational relationship was disrupted by three stresses that occurred during the four stages of the relationship. Stresses emerged for each organization in the areas of organizational integration, professional coordination, and environmental adaptation, making it difficult for the three to become integrated into an organizational system. As a result, the HMO, the nursing home, and the hospital did not benefit from relationships that could have enabled them to develop the multi-organizational system necessary to sustain an innovative, comprehansive geriatric health project. If, as Whitehead said, the greatest invention of the nineteenth century was the invention of the method of invention, the task of the succedding century has been to organize inventiveness. The difference is not in the nature of invention or of inventors, but in the manner in which the context of social institutions is organized for their support.

  13. The Reading Comprehension Strategies of Second Language Learners: A Spanish-English Study

    Science.gov (United States)

    Acosta Caballero, Karen Anelice

    2012-01-01

    Reading comprehension of school-aged students is an important topic of research; however, research on the reading comprehension of adult foreign/second language learners whose first language is English is limited, especially studies investigating the reading comprehension strategies that readers of different proficiency levels use when they…

  14. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    NARCIS (Netherlands)

    Posthuma, D.; Baare, W.F.C.; Hulshoff Pol, H.E.; Kahn, R.S.; Boomsma, D.I.; de Geus, E.J.C.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization,

  15. A comprehensive family-based replication study of schizophrenia genes

    DEFF Research Database (Denmark)

    Aberg, Karolina A; Liu, Youfang; Bukszár, Jozsef

    2013-01-01

    Schizophrenia (SCZ) is a devastating psychiatric condition. Identifying the specific genetic variants and pathways that increase susceptibility to SCZ is critical to improve disease understanding and address the urgent need for new drug targets....

  16. Study on comprehensive evaluation methods for nuclear fuel cycle

    International Nuclear Information System (INIS)

    Arie, Kazuo

    1999-03-01

    This investigation on comprehensive-evaluation-methods for nuclear fuel cycle has been performed through open-literature search. As the results, no proper comprehensive-evaluation-method has been found which integrate several factors to be considered into only one factor. In the evaluation of future advanced nuclear energy systems, it is required to evaluate from both view points of natural resources and natural environment, in addition to the other factors such as safety, economy, and proliferation resistance. It is recommended that clarification of specific items or targets to be evaluated is most important as the first thing to be done. Second, methodology for the evaluation should be discussed. (author)

  17. Insights into metabolic disease from studying genetics in isolated populations

    DEFF Research Database (Denmark)

    Zeggini, Eleftheria; Gloyn, Anna L; Hansen, Torben

    2016-01-01

    Over the last 10 years substantial progress has been made in our understanding of the genetic basis for type 2 diabetes and related traits. These developments have been facilitated by technological advancements that have allowed comprehensive genome-wide assessments of the impact of common geneti......, and an overview by the Session Chair, Anna Gloyn....

  18. A comprehensive study of benzene concentrations and emissions in Houston

    Science.gov (United States)

    Müller, Markus; Eichler, Philipp; Berk Knighton, W.; Estes, Mark; Crawford, James H.; Mikoviny, Tomas; Wisthaler, Armin

    2014-05-01

    The Houston Metropolitan Area (Greater Houston) has a population of over 6 million people, it ranks among the three fastest growing metropolises in the developed world and population growth scenarios predict it to reach megacity status in the coming two to four decades. Greater Houston is home to the largest petrochemical-manufacturing complex in the world with important consequences for the environment in the region. Direct and fugitive emissions of hydrocarbons adversely affect Houston's air quality which has been subject to intense studies over the past two decades. In 2013, NASA conducted the DISCOVER-AQ field campaign in support of developing a satellite-based capability to assess Houston's air quality in the future. Amongst other measurements, airborne, mobile ground-based and stationary ground-based measurements of benzene were carried out. Benzene is a carcinogenic air toxic with strict exposure regulations in the U.S. and in Europe. We have used the obtained comprehensive dataset to map benzene concentrations in the Houston metropolitan area, locate and identify point sources, compare industrial and traffic emissions and put them in relation to previous measurements and emission inventories. The obtained data will allow a better assessment of health risks associated with benzene exposure in a large metropolitan area that includes both traffic and industrial benzene sources. This work was funded by BMVIT / FFG-ALR in the frame of the Austrian Space Application Programme (ASAP 8, project 833451). PE was funded through the PIMMS ITN (EU-FP7, agreement number 287382). Additional resources were provided through NASA's Earth Venture program (EV-1) and the NASA Postdoctoral Program (NPP). We want to thank Scott Herndon and Aerodyne Research for their support.

  19. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

    Science.gov (United States)

    Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

    2012-01-01

    Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type. No subject had definite mutations (nonsense, frameshift or consensus splice site mutations) in two different USH genes. Novel missense variants were classified UV1-4 (unclassified variant): UV4 is 'probably pathogenic', based on control frequency A being the most common USH1 mutation in the cohort). USH2A was responsible for 79.3% of USH2 families and GPR98 for only 6.6%. No mutations were found in USH1G, WHRN or SLC4A7. One or two pathogenic/likely pathogenic variants were identified in 86% of cases. No convincing cases of digenic inheritance were found. It is concluded that digenic inheritance does not make a significant contribution to Usher syndrome; the observation of multiple variants in different genes is likely to reflect polymorphic variation, rather than digenic effects.

  20. A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma

    International Nuclear Information System (INIS)

    Mirabello, Lisa; Grotmol, Tom; Douglass, Chester; Hayes, Richard B; Hoover, Robert N; Savage, Sharon A; Yu, Kai; Berndt, Sonja I; Burdett, Laurie; Wang, Zhaoming; Chowdhury, Salma; Teshome, Kedest; Uzoka, Arinze; Hutchinson, Amy

    2011-01-01

    Osteosarcoma (OS) is a bone malignancy which occurs primarily in adolescents. Since it occurs during a period of rapid growth, genes important in bone formation and growth are plausible modifiers of risk. Genes involved in DNA repair and ribosomal function may contribute to OS pathogenesis, because they maintain the integrity of critical cellular processes. We evaluated these hypotheses in an OS association study of genes from growth/hormone, bone formation, DNA repair, and ribosomal pathways. We evaluated 4836 tag-SNPs across 255 candidate genes in 96 OS cases and 1426 controls. Logistic regression models were used to estimate the odds ratios (OR) and 95% confidence intervals (CI). Twelve SNPs in growth or DNA repair genes were significantly associated with OS after Bonferroni correction. Four SNPs in the DNA repair gene FANCM (ORs 1.9-2.0, P = 0.003-0.004) and 2 SNPs downstream of the growth hormone gene GH1 (OR 1.6, P = 0.002; OR 0.5, P = 0.0009) were significantly associated with OS. One SNP in the region of each of the following genes was significant: MDM2, MPG, FGF2, FGFR3, GNRH2, and IGF1. Our results suggest that several SNPs in biologically plausible pathways are associated with OS. Larger studies are required to confirm our findings

  1. Assessment of a direct hybridization microarray strategy for comprehensive monitoring of genetically modified organisms (GMOs).

    Science.gov (United States)

    Turkec, Aydin; Lucas, Stuart J; Karacanli, Burçin; Baykut, Aykut; Yuksel, Hakki

    2016-03-01

    Detection of GMO material in crop and food samples is the primary step in GMO monitoring and regulation, with the increasing number of GM events in the world market requiring detection solutions with high multiplexing capacity. In this study, we test the suitability of a high-density oligonucleotide microarray platform for direct, quantitative detection of GMOs found in the Turkish feed market. We tested 1830 different 60nt probes designed to cover the GM cassettes from 12 different GM cultivars (3 soya, 9 maize), as well as plant species-specific and contamination controls, and developed a data analysis method aiming to provide maximum throughput and sensitivity. The system was able specifically to identify each cultivar, and in 10/12 cases was sensitive enough to detect GMO DNA at concentrations of ⩽1%. These GMOs could also be quantified using the microarray, as their fluorescence signals increased linearly with GMO concentration. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. A Genetic Epidemiological Study of Behavioral Traits

    NARCIS (Netherlands)

    N. Amin (Najaf)

    2011-01-01

    textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to

  3. [Self-esteem and giftedness: a Rorschach Comprehensive System study].

    Science.gov (United States)

    Kostogianni, N; Andronikof, A

    2014-02-01

    According to empirical literature, low self-esteem is highly correlated to behavioural and emotional problems in gifted children and adolescents. Since self-esteem is an indicator of social and emotional adjustment, it would be interesting to better understand the meaning of this construct, as it is evaluated explicitly with the use of self-report questionnaires. In order to explore the psychological processes underlying the explicit self-esteem, we studied the relation of a self-report questionnaire and an indirect measure of self and interpersonal perception using the Rorschach Comprehensive System (CS). The participants were 93 children, aged between 9 and 15 years old, with an IQ≥130. They were attending regular classes (no curriculum difference). Self-esteem was evaluated using the Coopersmith Self-Esteem Inventory (SEI). We used the Rorschach CS measures of self and interpersonal perception. The results showed no significant correlation between self-esteem and high IQ. A negative correlation between self-esteem evaluated on the SEI and the Rorschach Vista responses was found, which reflected self-critical introspection and painful self-appraisal. Then a positive correlation was observed between self-esteem and reflection answers on the Rorschach (Fr+rF>0), which are related to narcissistic-like features of personality. We also found a positive correlation between self-esteem and the Rorschach egocentricity index (EGO), which provides an estimate of self-concern. Finally, the strongest correlation was found between self-esteem and the dominance of good over poor human representations (GHR>PHR), which reveals effective interpersonal behaviour. The psychological processes which seem to be related to low self-esteem in gifted children and adolescents are maladaptive interpersonal behaviours, painful experience of introspection focusing on perceived negative aspects of the self, absence of narcissistic-like features of the personality and low self-concern. These

  4. Comprehensive Study of Acute Effects and Recovery After Concussion

    Science.gov (United States)

    2017-10-01

    Prevent Mouthguard sensor system (Cleveland Clinic) demonstrated an ability to collect true positive head impacts, verified using video evidence...comparison of HIT System data to Prevent mouthguard data with comprehensive video analysis of all collected head impacts. • Interim anlaysis of HIM...presentation in both athlete and civilian mTBI patients and (2) test hypotheses regarding sex differences in mTBI phenotypes. The project will 33 be

  5. Comprehensive aerodynamic and dynamic study of independence of ukraine monument

    Directory of Open Access Journals (Sweden)

    I. M. Lebedich

    2003-06-01

    Full Text Available Comprehensive approach for solution the engineering problems o f creation the high-rise extended pillartype Monument in Kiyv is described. The results o f dynamic tests o f 1:25 scale model and aerodynamictests o f 1:8 scale model o f the Monument in TAD-2 wind tunnel are given. The procedures fordetermination o f actual dynamic characteristics and assurance the efficiency o f damping on the siteare described

  6. QRAC-the-Code: a comprehension monitoring strategy for middle school social studies textbooks.

    Science.gov (United States)

    Berkeley, Sheri; Riccomini, Paul J

    2013-01-01

    Requirements for reading and ascertaining information from text increase as students advance through the educational system, especially in content-rich classes; hence, monitoring comprehension is especially important. However, this is a particularly challenging skill for many students who struggle with reading comprehension, including students with learning disabilities. A randomized pre-post experimental design was employed to investigate the effectiveness of a comprehension monitoring strategy (QRAC-the-Code) for improving the reading comprehension of 323 students in grades 6 and 7 in inclusive social studies classes. Findings indicated that both general education students and students with learning disabilities who were taught a simple comprehension monitoring strategy improved their comprehension of textbook content compared to students who read independently and noted important points. In addition, students in the comprehension monitoring condition reported using more reading strategies after the intervention. Implications for research and practice are discussed.

  7. Genetic diversity and bottleneck studies in the Marwari horse breed

    Indian Academy of Sciences (India)

    Unknown

    [Gupta A. K., Chauhan M., Tandon S. N. and Sonia 2005 Genetic diversity and bottleneck studies in the Marwari horse breed. J. Genet. 84, 295–301] ... developed to carry out studies of genetic variation (Brad- ley et al. 1996; Canon et al. ..... 1996 Mitochondrial diversity and the origins of African and. European cattle. Proc.

  8. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization......, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  9. Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.

    Science.gov (United States)

    Tada, Hayato; Kawashiri, Masa-Aki; Yamagishi, Masakazu

    2017-04-01

    Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings. More recently, Mendelian randomization studies have preceded randomized controlled trials. When the on-target/off-target effects of rare variants and common variants exhibit the same direction, novel drugs targeting molecules identified by investigations of rare Mendelian lipid disorders could be promising. Such a strategy could aid in the search for drug discovery seeds other than those for dyslipidemias.

  10. A comprehensive experimental and modeling study of isobutene oxidation

    KAUST Repository

    Zhou, Chong-Wen

    2016-03-17

    Isobutene is an important intermediate in the pyrolysis and oxidation of higher-order branched alkanes, and it is also a component of commercial gasolines. To better understand its combustion characteristics, a series of ignition delay time (IDT) and laminar flame speed (LFS) measurements have been performed. In addition, flow reactor speciation data recorded for the pyrolysis and oxidation of isobutene is also reported. Predictions of an updated kinetic model described herein are compared with each of these data sets, as well as with existing jet-stirred reactor (JSR) species measurements. IDTs of isobutene oxidation were measured in four different shock tubes and in two rapid compression machines (RCMs) under conditions of relevance to practical combustors. The combination of shock tube and RCM data greatly expands the range of available validation data for isobutene oxidation models to pressures of 50 atm and temperatures in the range 666–1715 K. Isobutene flame speeds were measured experimentally at 1 atm and at unburned gas temperatures of 298–398 K over a wide range of equivalence ratios. For the flame speed results, there was good agreement between different facilities and the current model in the fuel-rich region. Ab initio chemical kinetics calculations were carried out to calculate rate constants for important reactions such as H-atom abstraction by hydroxyl and hydroperoxyl radicals and the decomposition of 2-methylallyl radicals. A comprehensive chemical kinetic mechanism has been developed to describe the combustion of isobutene and is validated by comparison to the presently considered experimental measurements. Important reactions, highlighted via flux and sensitivity analyses, include: (a) hydrogen atom abstraction from isobutene by hydroxyl and hydroperoxyl radicals, and molecular oxygen; (b) radical–radical recombination reactions, including 2-methylallyl radical self-recombination, the recombination of 2-methylallyl radicals with

  11. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed.

    Science.gov (United States)

    Posthuma, Daniëlle; Baaré, Wim F C; Hulshoff Pol, Hilleke E; Kahn, René S; Boomsma, Dorret I; De Geus, Eco J C

    2003-04-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction of causation (i.e., do genes influence brain volume which in turn influences intelligence, or alternatively, do genes influence intelligence which in turn influences brain volume), or the presence or absence of pleiotropy has not been resolved yet.

  12. al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.

    Science.gov (United States)

    Koshy, Remya; Ranawat, Anop; Scaria, Vinod

    2017-10-01

    Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations. The variants were systematically annotated and their allele frequencies in the data sets were computed and available as a web interface which enables quick query. As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis. Our analysis revealed that the carrier frequency of selected variants differed widely with significant interethnic differences. To the best of our knowledge, al mena is the first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would accelerate Precision Medicine in the region.

  13. Different frequencies of drug resistance mutations among HIV-1 subtypes circulating in China: a comprehensive study.

    Directory of Open Access Journals (Sweden)

    Hongshuai Sui

    Full Text Available The rapid spreading of HIV drug resistance is threatening the overall success of free HAART in China. Much work has been done on drug-resistant mutations, however, most of which were based on subtype B. Due to different genetic background, subtypes difference would have an effect on the development of drug-resistant mutations, which has already been proved by more and more studies. In China, the main epidemic subtypes are CRF07_BC, CRF08_BC, Thai B and CRF01_AE. The depiction of drug resistance mutations in those subtypes will be helpful for the selection of regimens for Chinese. In this study, the distributions difference of amino acids at sites related to HIV drug resistance were compared among subtype B, CRF01_AE, CRF07_BC and CRF08_BC strains prevalent in China. The amino acid composition of sequences belonging to different subtypes, which were obtained from untreated and treated individuals separately, were also compared. The amino acids proportions of 19 sites in RT among subtype B, CRF01_AE and CRF08_BC have significant difference in drug resistance groups (chi-square test, p<0.05. Genetic barriers analysis revealed that sites 69, 138, 181, 215 and 238 were significantly different among subtypes (Kruskal Wallis test, p<0.05. All subtypes shared three highest prevalent drug resistance sites 103, 181 and 184 in common. Many drug resistant sites in protease show surprising high proportions in almost all subtypes in drug-naïve patients. This is the first comprehensive study in China on different development of drug resistance among different subtypes. The detailed data will lay a foundation for HIV treatment regimens design and improve HIV therapy in China.

  14. Molecular genetic studies in flax (Linum usitatissimum L.)

    NARCIS (Netherlands)

    Vromans, J.

    2006-01-01

    In this thesis five molecular genetic studies on flax ( Linum usitatissimum L.) are described, of which two chapters aim to characterize the genetic structure and the amount of genetic diversity in the primary and secondary gene pool of the crop species. Three chapters describe the development of

  15. The use of reproductive vigor descriptors in studying genetic ...

    African Journals Online (AJOL)

    The use of reproductive vigor descriptors in studying genetic variability in nine Tunisian faba bean ( Vicia faba L.) populations. ... The dendrogram based on Nei's genetic distance of the 9 populations using UPGMA method, show some genetic drift between populations. Key words: Faba bean, agromorphological traits, ...

  16. Genetic studies on the South African Mutton Merino: growth traits

    African Journals Online (AJOL)

    Unknown

    breed has undergone such a metamorphosis that it no longer bears much, if any, resemblance to its European ancestor. The need for a separate genetic characterization of this distinct South African strain is therefore evident. The aim of this study was to determine the applicable non-genetic factors and to estimate genetic ...

  17. The Etruscans: a population-genetic study

    DEFF Research Database (Denmark)

    Vernesi, Cristiano; Caramelli, David; Dupanloup, Isabelle

    2004-01-01

    The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans' evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences...... a culture but also a mitochondrial gene pool. Genetic distances and sequence comparisons show closer evolutionary relationships with the eastern Mediterranean shores for the Etruscans than for modern Italian populations. All mitochondrial lineages observed among the Etruscans appear typically European...... or West Asian, but only a few haplotypes were found to have an exact match in a modern mitochondrial database, raising new questions about the Etruscans' fate after their assimilation into the Roman state....

  18. Reciprocal Teaching and Emotional Intelligence: A Study of Iranian EFL Learners' Reading Comprehension

    Science.gov (United States)

    Izadi, Mehri; Nowrouzi, Hossein

    2016-01-01

    The present study aimed at exploring the effect of reciprocal reading strategies instruction on reading comprehension of EFL learners. Emotional intelligence, another variable of interest, was assessed to indicate whether it plays a role in learners' comprehension. In a pre- and post-test study, forty-two learners went through a reciprocal reading…

  19. The Effect of Stories for Thinking on Reading and Listening Comprehension: A Case Study in Turkey

    Science.gov (United States)

    Tok, Sükran; Mazl, Aysegül

    2015-01-01

    This study has been conducted in order to examine the effects of the stories for thinking on 5th graders' reading comprehension and listening comprehension. A pretest-post test control group quasi-experimental design was used in the study. The sample of the etstudy was composed of 74 5th graders attending public elementary schools. The data have…

  20. Combinations of genetic data in a study of oral cancer

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke; Mondal, Pinaki

    2015-01-01

    In the single locus strategy a number of genetic variants are analyzed, in order to find variants that are distributed significantly different between controls and patients. A supplementary strategy is to analyze combinations of genetic variants. A combination that is the genetic basis...... for a polygenic disorder will not occur in in control persons genetically unrelated to patients, so the strategy is to analyze combinations of genetic variants present exclusively in patients. In a previous study of oral cancer and leukoplakia 325 SNPs were analyzed. This study has been supplemented...

  1. 'Smoking genes': a genetic association study.

    Directory of Open Access Journals (Sweden)

    Zoraida Verde

    Full Text Available Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A [rs1801272], CYP2A6*9 (-48T>G [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T [rs8192789], CYP2A13*3 (7520C>G, CYP2A13*4 (579G>A, CYP2A13*7 (578C>T [rs72552266], CYP2B6*4 (785A>G, CYP2B6*9 (516G>T, CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126 and ethnically matched never smokers (controls, N = 80. The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A polymorphisms was 3.60 (95%CI: 1.75, 7.44 and 2.63 (95%CI: 1.41, 4.89 respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65. We found a significant genotype effect (all P≤0.017 for the following smoking-related phenotypes: (i cigarettes smoked per day and CYP2A13*3; (ii pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A; (iii nicotine dependence (assessed with the Fagestrom test and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5, serotoninergic (HTR2A, opioid (OPRM1 or cannabinoid receptors (CNR1.

  2. A predictive study of reading comprehension in third-grade Spanish students.

    Science.gov (United States)

    López-Escribano, Carmen; Elosúa de Juan, María Rosa; Gómez-Veiga, Isabel; García-Madruga, Juan Antonio

    2013-01-01

    The study of the contribution of language and cognitive skills to reading comprehension is an important goal of current reading research. However, reading comprehension is not easily assessed by a single instrument, as different comprehension tests vary in the type of tasks used and in the cognitive demands required. This study examines the contribution of basic language and cognitive skills (decoding, word recognition, reading speed, verbal and nonverbal intelligence and working memory) to reading comprehension, assessed by two tests utilizing various tasks that require different skill sets in third-grade Spanish-speaking students. Linguistic and cognitive abilities predicted reading comprehension. A measure of reading speed (the reading time of pseudo-words) was the best predictor of reading comprehension when assessed by the PROLEC-R test. However, measures of word recognition (the orthographic choice task) and verbal working memory were the best predictors of reading comprehension when assessed by means of the DARC test. These results show, on the one hand, that reading speed and word recognition are better predictors of Spanish language comprehension than reading accuracy. On the other, the reading comprehension test applied here serves as a critical variable when analyzing and interpreting results regarding this topic.

  3. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

    Science.gov (United States)

    Lim, Byung Chan; Lee, Seungbok; Shin, Jong-Yeon; Kim, Jong-Il; Hwang, Hee; Kim, Ki Joong; Hwang, Yong Seung; Seo, Jeong-Sun; Chae, Jong Hee

    2011-11-01

    Duchenne muscular dystrophy or Becker muscular dystrophy might be a suitable candidate disease for application of next-generation sequencing in the genetic diagnosis because the complex mutational spectrum and the large size of the dystrophin gene require two or more analytical methods and have a high cost. The authors tested whether large deletions/duplications or small mutations, such as point mutations or short insertions/deletions of the dystrophin gene, could be predicted accurately in a single platform using next-generation sequencing technology. A custom solution-based target enrichment kit was designed to capture whole genomic regions of the dystrophin gene and other muscular-dystrophy-related genes. A multiplexing strategy, wherein four differently bar-coded samples were captured and sequenced together in a single lane of the Illumina Genome Analyser, was applied. The study subjects were 25 16 with deficient dystrophin expression without a large deletion/duplication and 9 with a known large deletion/duplication. Nearly 100% of the exonic region of the dystrophin gene was covered by at least eight reads with a mean read depth of 107. Pathogenic small mutations were identified in 15 of the 16 patients without a large deletion/duplication. Using these 16 patients as the standard, the authors' method accurately predicted the deleted or duplicated exons in the 9 patients with known mutations. Inclusion of non-coding regions and paired-end sequence analysis enabled accurate identification by increasing the read depth and providing information about the breakpoint junction. The current method has an advantage for the genetic diagnosis of Duchenne muscular dystrophy and Becker muscular dystrophy wherein a comprehensive mutational search may be feasible using a single platform.

  4. Effects of Audiovisual Media on L2 Listening Comprehension: A Preliminary Study in French

    Science.gov (United States)

    Becker, Shannon R.; Sturm, Jessica L.

    2017-01-01

    The purpose of the present study was to determine whether integrating online audiovisual materials into the listening instruction of L2 French learners would have a measurable impact on their listening comprehension development. Students from two intact sections of second-semester French were tested on their listening comprehension before and…

  5. Study on supporting system for operator's comprehensive understanding

    International Nuclear Information System (INIS)

    Yoshikawa, Shinji

    1996-01-01

    Power Reactor and Nuclear Fuel Development Corp. has participated in the development of a system to support the process of operator's plant understanding by the use of information processing techniques such as artificial intelligence since 1994. Analysis and model formation of the process leading to operator's comprehensive understanding of plant (mental model) are undertaken attempting to determine the basic structure of the mental model available for the description of knowledge using the precedent survey and to observe how to utilize operator's own knowledge. After consideration of the way by which plant operators utilize their physical knowledges and the knowledges of physical observation in practice, a basic structure composed of 3 components a qualitative causal network, a hierarchical function model and 3 links joining the two was proposed for the mental model. A questionnaire survey on operator's statements was made and the contents were assigned in several categories for objective analysis. An unified form usable to make a data base was established. Further, we have a plan to develop the first proto-type system to promote operator's understanding by 1998. (M.N.)

  6. Comprehensive Study on Lexicon-based Ensemble Classification Sentiment Analysis

    Directory of Open Access Journals (Sweden)

    Łukasz Augustyniak

    2015-12-01

    Full Text Available We propose a novel method for counting sentiment orientation that outperforms supervised learning approaches in time and memory complexity and is not statistically significantly different from them in accuracy. Our method consists of a novel approach to generating unigram, bigram and trigram lexicons. The proposed method, called frequentiment, is based on calculating the frequency of features (words in the document and averaging their impact on the sentiment score as opposed to documents that do not contain these features. Afterwards, we use ensemble classification to improve the overall accuracy of the method. What is important is that the frequentiment-based lexicons with sentiment threshold selection outperform other popular lexicons and some supervised learners, while being 3–5 times faster than the supervised approach. We compare 37 methods (lexicons, ensembles with lexicon’s predictions as input and supervised learners applied to 10 Amazon review data sets and provide the first statistical comparison of the sentiment annotation methods that include ensemble approaches. It is one of the most comprehensive comparisons of domain sentiment analysis in the literature.

  7. Comprehensive study of tartrazine/cationic surfactant interaction.

    Science.gov (United States)

    Shahir, Afshin Asadzadeh; Javadian, Soheila; Razavizadeh, Bi Bi Marzieh; Gharibi, Hussein

    2011-12-15

    Interaction of a food dye, tartrazine, with some cationic conventional and gemini surfactants, tetradecyltrimethylammonium bromide (TTAB), N,N'-ditetradecyl-N,N,N',N'-tetramethyl-N,N'-butanediyl-diammonium dibromide (14,4,14), and N,N'-didodecyl-N,N,N',N'-tetramethyl-N,N'-butanediyl-diammonium dibromide (12,4,12), were first investigated comprehensively employing conductometry, tensiometry, and UV-visible spectroscopy. Tartrazine was found to behave in the same manner as aromatic counterions. The formation of ion pairs reflected as a considerable increase of the surfactant efficiency in tensiometry plots and their stoichiometry were determined by Job's method of continuous variations. For the tartrazine/TTAB system, nonionic DS(3), ionic DS(2-), and/or DS(2)(-) ion pairs, their small premicelles, and tartrazine-rich micelles were constituted as well as dye-containing TTAB-rich micelles. Insoluble J-aggregates of DS(-) ion pairs and cylindrical surfactant-rich micelles were also formed in tartrazine/gemini surfactant systems and recognized by transmission electron microscopy. The zeta potential and the size of the aggregates were determined using dynamic light scattering and confirmed the suggested models for the processes happening in each system. Cyclic voltammetry was applied successfully to track all of these species using tartrazine's own reduction peak current for the first time.

  8. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

    Science.gov (United States)

    Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

    2017-06-01

    As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

  9. Molecular and genetic study of wheat rusts

    African Journals Online (AJOL)

    Nicholas Le Maitre

    Phylogenetic trees were created for leaf and stem rust pathotypes. Field isolates of ... Key words: Prevalence, microsatellite, amplified fragment length polymorphisms (AFLP), phylogeny, Puccinia. INTRODUCTION. Puccinia triticina Eriks ..... Genetic distances and reconstruction phylogenetic trees from microsatellite DNA.

  10. Trends in lignin modification: a comprehensive analysis of the effects of genetic manipulations/mutations on lignification and vascular integrity

    Science.gov (United States)

    Anterola, Aldwin M.; Lewis, Norman G.

    2002-01-01

    A comprehensive assessment of lignin configuration in transgenic and mutant plants is long overdue. This review thus undertook the systematic analysis of trends manifested through genetic and mutational manipulations of the various steps associated with monolignol biosynthesis; this included consideration of the downstream effects on organized lignin assembly in the various cell types, on vascular function/integrity, and on plant growth and development. As previously noted for dirigent protein (homologs), distinct and sophisticated monolignol forming metabolic networks were operative in various cell types, tissues and organs, and form the cell-specific guaiacyl (G) and guaiacyl-syringyl (G-S) enriched lignin biopolymers, respectively. Regardless of cell type undergoing lignification, carbon allocation to the different monolignol pools is apparently determined by a combination of phenylalanine availability and cinnamate-4-hydroxylase/"p-coumarate-3-hydroxylase" (C4H/C3H) activities, as revealed by transcriptional and metabolic profiling. Downregulation of either phenylalanine ammonia lyase or cinnamate-4-hydroxylase thus predictably results in reduced lignin levels and impaired vascular integrity, as well as affecting related (phenylpropanoid-dependent) metabolism. Depletion of C3H activity also results in reduced lignin deposition, albeit with the latter being derived only from hydroxyphenyl (H) units, due to both the guaiacyl (G) and syringyl (S) pathways being blocked. Apparently the cells affected are unable to compensate for reduced G/S levels by increasing the amounts of H-components. The downstream metabolic networks for G-lignin enriched formation in both angiosperms and gymnosperms utilize specific cinnamoyl CoA O-methyltransferase (CCOMT), 4-coumarate:CoA ligase (4CL), cinnamoyl CoA reductase (CCR) and cinnamyl alcohol dehydrogenase (CAD) isoforms: however, these steps neither affect carbon allocation nor H/G designations, this being determined by C4H/C3H

  11. Comprehensive study on nuclear weapons. Summary of a United Nations study

    International Nuclear Information System (INIS)

    1991-01-01

    In December 1988, by resolution 43/75N, the United Nations General Assembly requested the Secretary-General to carry out a comprehensive update of a 1980 study on nuclear weapons. The study was to take into account recent relevant studies, and consider the political, legal and security aspects of: (a) nuclear arsenals and pertinent technological developments; (b) doctrines concerning nuclear weapons; (c) efforts to reduce nuclear weapons; (d) physical, environmental, medical and other effects of the use of nuclear weapons and of nuclear testing; (e) efforts to achieve a comprehensive nuclear-test ban; (f) efforts to prevent the use of nuclear weapons and their horizontal and vertical proliferation; and (g) the question of verification of compliance with nuclear-arms limitation agreements. The Group's report is presented in nine chapters, eight of which are summarized here; chapter 9, entitled ''Conclusions'', is included in its entirety. In his foreword to the report, the Secretary-General observes that the study represents the most comprehensive review of the relevant developments in the field over the last decade and was carried out during a period of ''far-reaching changes in international relations'' and an ''unprecedented evolution in the relationship between East and West''. This period experienced for the first time the initiation of an effective process of reduction of nuclear weapon stockpiles

  12. Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

    Science.gov (United States)

    Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F

    2001-10-01

    Cancer cell lines are essential gene discovery tools and have often served as models in genetic and functional studies of particular tumor types. One of the future challenges is comparison and interpretation of gene expression data with the available knowledge on the genomic abnormalities in these cell lines. In this context, accurate description of these genomic abnormalities is required. Here, we show that a combination of M-FISH with banding analysis, standard FISH, and CGH allowed a detailed description of the genetic alterations in 16 neuroblastoma cell lines. In total, 14 cryptic chromosome rearrangements were detected, including a balanced t(2;4)(p24.3;q34.3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN. The chromosomal origin of 22 marker chromosomes and 41 cytogenetically undefined translocated segments was determined. Chromosome arm 2 short arm translocations were observed in six cell lines (38%) with and five (31%) without MYCN amplification, leading to partial chromosome arm 2p gain in all but one cell line and loss of material in the various partner chromosomes, including 1p and 11q. These 2p gains were often masked in the GGH profiles due to MYCN amplification. The commonly overrepresented region was chromosome segment 2pter-2p22, which contains the MYCN gene, and five out of eleven 2p breakpoints clustered to the interface of chromosome bands 2p16 and 2p21. In neuroblastoma cell line SJNB-12, with double minutes (dmins) but no MYCN amplification, the dmins were shown to be derived from 16q22-q23 sequences. The ATBF1 gene, an AT-binding transcription factor involved in normal neurogenesis and located at 16q22.2, was shown to be present in the amplicon. This is the first report describing the possible implication of ATBF1 in neuroblastoma cells. We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the

  13. MetaGenyo: a web tool for meta-analysis of genetic association studies.

    Science.gov (United States)

    Martorell-Marugan, Jordi; Toro-Dominguez, Daniel; Alarcon-Riquelme, Marta E; Carmona-Saez, Pedro

    2017-12-16

    Genetic association studies (GAS) aims to evaluate the association between genetic variants and phenotypes. In the last few years, the number of this type of study has increased exponentially, but the results are not always reproducible due to experimental designs, low sample sizes and other methodological errors. In this field, meta-analysis techniques are becoming very popular tools to combine results across studies to increase statistical power and to resolve discrepancies in genetic association studies. A meta-analysis summarizes research findings, increases statistical power and enables the identification of genuine associations between genotypes and phenotypes. Meta-analysis techniques are increasingly used in GAS, but it is also increasing the amount of published meta-analysis containing different errors. Although there are several software packages that implement meta-analysis, none of them are specifically designed for genetic association studies and in most cases their use requires advanced programming or scripting expertise. We have developed MetaGenyo, a web tool for meta-analysis in GAS. MetaGenyo implements a complete and comprehensive workflow that can be executed in an easy-to-use environment without programming knowledge. MetaGenyo has been developed to guide users through the main steps of a GAS meta-analysis, covering Hardy-Weinberg test, statistical association for different genetic models, analysis of heterogeneity, testing for publication bias, subgroup analysis and robustness testing of the results. MetaGenyo is a useful tool to conduct comprehensive genetic association meta-analysis. The application is freely available at http://bioinfo.genyo.es/metagenyo/ .

  14. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    Science.gov (United States)

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  15. Storybook Read-Alouds to Enhance Students’ Comprehension Skills in ESL Classrooms: A Case Study

    Directory of Open Access Journals (Sweden)

    Ainon Omar

    2015-06-01

    Full Text Available The effectiveness of using storybooks during read-alouds to develop children’s comprehension skills as well as in understanding the story has been widely studied. The reading aloud strategy has also been proven through numerous researches to be the most highly recommended activity for encouraging language and literacy. The study identified the comprehension strategies used by the teachers during their read-aloud sessions, matched teachers’ current practices using the comprehension strategies to the identified practices for the approach, and obtained the teachers’ perceptions of their current practices of the comprehension strategies during reading aloud in their English language classrooms. The teachers’ comprehension strategies were matched with a research-based strategy for comprehending texts during read-alouds proposed by Whitehurst et al (1994. Three primary school English language teachers teaching in the rural schools participated in this study. Qualitative research methods were used in this study. Primary data was obtained through observations using an observation protocol; while secondary data was obtained through interviews from teachers. Findings from the study revealed that the three teachers employed a few of the comprehension strategies that were proposed by researchers in the field. The findings also indicate that the teachers utilized only the strategies that they thought were relevant to their teaching context and as such, proposed the need to provide teachers with knowledge on the best practices for conducting reading aloud to develop ESL students’ comprehension skills

  16. Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes

    Directory of Open Access Journals (Sweden)

    Celedón Juan C

    2011-02-01

    Full Text Available Abstract Background Prior studies suggest a role for a variant (rs5743836 in the promoter of toll-like receptor 9 (TLR9 in asthma and other inflammatory diseases. We performed detailed genetic association studies of the functional variant rs5743836 with asthma susceptibility and asthma-related phenotypes in three independent cohorts. Methods rs5743836 was genotyped in two family-based cohorts of children with asthma and a case-control study of adult asthmatics. Association analyses were performed using chi square, family-based and population-based testing. A luciferase assay was performed to investigate whether rs5743836 genotype influences TLR9 promoter activity. Results Contrary to prior reports, rs5743836 was not associated with asthma in any of the three cohorts. Marginally significant associations were found with FEV1 and FVC (p = 0.003 and p = 0.008, respectively in one of the family-based cohorts, but these associations were not significant after correcting for multiple comparisons. Higher promoter activity of the CC genotype was demonstrated by luciferase assay, confirming the functional importance of this variant. Conclusion Although rs5743836 confers regulatory effects on TLR9 transcription, this variant does not appear to be an important asthma-susceptibility locus.

  17. Study books on ADHD genetics: balanced or biased?

    Science.gov (United States)

    Te Meerman, Sanne; Batstra, Laura; Hoekstra, Rink; Grietens, Hans

    2017-06-01

    Academic study books are essential assets for disseminating knowledge about ADHD to future healthcare professionals. This study examined if they are balanced with regard to genetics. We selected and analyzed study books (N=43) used in (pre) master's programmes at 10 universities in the Netherlands. Because the mere behaviourally informed quantitative genetics give a much higher effect size of the genetic involvement in ADHD, it is important that study books contrast these findings with molecular genetics' outcomes. The latter studies use real genetic data, and their low effect sizes expose the potential weaknesses of quantitative genetics, like underestimating the involvement of the environment. Only a quarter of books mention both effect sizes and contrast these findings, while another quarter does not discuss any effect size. Most importantly, however, roughly half of the books in our sample mention only the effect sizes from quantitative genetic studies without addressing the low explained variance of molecular genetic studies. This may confuse readers by suggesting that the weakly associated genes support the quite spectacular, but potentially flawed estimates of twin, family and adoption studies, while they actually contradict them.

  18. A Study of Holistic and Subskill Instructional Approaches to Reading Comprehension.

    Science.gov (United States)

    Vacca, Richard T.

    1980-01-01

    In a six-week study involving seventh- to ninth-grade students in a summer corrective reading program, neither the holistic nor the subskill treatment had a significant advantage in improving student reading comprehension or attitude toward reading. (JT)

  19. A "Genetic Study" of the Galaxy

    Science.gov (United States)

    2006-09-01

    Looking in detail at the composition of stars with ESO's VLT, astronomers are providing a fresh look at the history of our home galaxy, the Milky Way. They reveal that the central part of our Galaxy formed not only very quickly but also independently of the rest. "For the first time, we have clearly established a 'genetic difference' between stars in the disc and the bulge of our Galaxy," said Manuela Zoccali, lead author of the paper presenting the results in the journal Astronomy and Astrophysics [1]. "We infer from this that the bulge must have formed more rapidly than the disc, probably in less than a billion years and when the Universe was still very young." ESO PR Photo 34a/06 ESO PR Photo 34a/06 The Field around Baade's Window The Milky Way is a spiral galaxy, having pinwheel-shaped arms of gas, dust, and stars lying in a flattened disc, and extending directly out from a spherical nucleus of stars in the central region. The spherical nucleus is called a bulge, because it bulges out from the disc. While the disc of our Galaxy is made up of stars of all ages, the bulge contains old stars dating from the time the galaxy formed, more than 10 billion years ago. Thus, studying the bulge allows astronomers to know more about how our Galaxy formed. To do this, an international team of astronomers [2] analysed in detail the chemical composition of 50 giant stars in four different areas of the sky towards the Galactic bulge. They made use of the FLAMES/UVES spectrograph on ESO's Very Large Telescope to obtain high-resolution spectra. The chemical composition of stars carries the signature of the enrichment processes undergone by the interstellar matter up to the moment of their formation. It depends on the previous history of star formation and can thus be used to infer whether there is a 'genetic link' between different stellar groups. In particular, comparison between the abundance of oxygen and iron in stars is very illustrative. Oxygen is predominantly produced in

  20. Genetic Breeding and Diversity of the Genus Passiflora: Progress and Perspectives in Molecular and Genetic Studies

    Directory of Open Access Journals (Sweden)

    Carlos Bernard M. Cerqueira-Silva

    2014-08-01

    Full Text Available Despite the ecological and economic importance of passion fruit (Passiflora spp., molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i to present the current condition of the passion fruit crop; (ii to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii to present the contributions of genetic engineering for passion fruit culture; and (iv to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit.

  1. A Study on Strategies for Teaching Speaking and Reading Comprehension Skills

    OpenAIRE

    AHMAD; Prof. Dr.I Ketut Seken,MA; Dra. Luh Putu Artini, MA., Ph.D

    2013-01-01

    The central intention of this study was to analyze the English teachers’ strategies in teaching speaking and reading comprehension skills in SMPN 1 Selong. It was conducted to get detailed information about the students’ responses toward their teachers’ strategies in teaching speaking and reading comprehension skills. This study employed a qualitative research design. Necessary data were gathered using open-ended question, classroom observation, interview, and questionnaire. The result ...

  2. Aspects of open-flavour mesons in a comprehensive DSBSE study

    Energy Technology Data Exchange (ETDEWEB)

    Hilger, T. [University of Graz, NAWI Graz, Institute of Physics, Graz (Austria); Austrian Academy of Sciences, Institute of High Energy Physics, Vienna (Austria); Gomez-Rocha, M. [ECT*, Villazzano (Trento) (Italy); Krassnigg, A. [University of Graz, NAWI Graz, Institute of Physics, Graz (Austria); Lucha, W. [Austrian Academy of Sciences, Institute of High Energy Physics, Vienna (Austria)

    2017-10-15

    Open-flavour meson studies are the necessary completion to any comprehensive investigation of quarkonia. We extend recent studies of quarkonia in the Dyson-Schwinger-Bethe-Salpeter equation approach to explore their results for all possible flavour combinations. Within the inherent limitations of the setup, we present the most comprehensive results for meson masses and leptonic decay constants currently available and put them in perspective with respect to experiment and other approaches. (orig.)

  3. Theory of mind in emerging reading comprehension: A longitudinal study of early indirect and direct effects.

    Science.gov (United States)

    Atkinson, Lynette; Slade, Lance; Powell, Daisy; Levy, Joseph P

    2017-12-01

    The relation between children's theory of mind (ToM) and emerging reading comprehension was investigated in a longitudinal study over 2.5years. A total of 80 children were tested for ToM, decoding, language skills, and executive function (EF) at Time 1 (mean age=3;10 [years;months]). At Time 2 (mean age=6;03), children's word reading efficiency, language skills, and reading comprehension were measured. Mediation analysis showed that ToM at Time 1, when children were around 4years old, indirectly predicted Time 2 reading comprehension, when children were 6years old, via language ability after controlling for age, nonverbal ability, decoding, EF, and earlier language ability. Importantly, ToM at 4years also directly predicted reading comprehension 2.5years later at 6years. This is the first longitudinal study to show a direct contribution of ToM to reading comprehension in typical development. Findings are discussed in terms of the simple view of reading (SVR); ToM not only supports reading comprehension indirectly by facilitating language but also contributes to it directly over and above the SVR. The potential role of metacognition is considered when accounting for the direct contribution of early ToM to later reading comprehension. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. The -351A>G genetic polymorphism in the estrogen receptor alpha gene and risk of endometriosis: a case-control study

    Directory of Open Access Journals (Sweden)

    Reihaneh Asadi

    2015-03-01

    Conclusion: The results do not support the previous findings of an association between -351A>G genetic polymorphism in ESR1 gene and endometriosis. Therefore, comprehensive genetic approaches including linkage analyses and family-based tests, together with a number of replication studies with large sample size, are needed to make conclusive claims about the role of this genetic polymorphism in susceptibility to endometriosis.

  5. Terrestrial ecology. Comprehensive study of the grassland biome

    International Nuclear Information System (INIS)

    Anon.

    1976-01-01

    Terrestrial ecology and grassland biome studies are designed to characterize the biota of the Hanford Reservation, elucidate seasonal dynamics of plant productivity, decomposition and mineral behavior patterns of important plant communities, and, to study the response of these communities to important natural environmental stresses, such as weather, wildfire and man-induced alterations of communities (influenced by grazing cattle and severe mechanical disturbance of the soil, such as affected by plowing or burial of waste materials or construction activities). A detailed account of the important findings of a 5-yr study is currently being prepared by the terrestrial ecology section staff for publication as a contribution to the International Biological Program Grassland Biome project

  6. A COMPREHENSIVE STUDY OF DEPRESSION IN ADOLESCENT GIRLS

    Directory of Open Access Journals (Sweden)

    Preeti

    2015-06-01

    Full Text Available Depressive disorders in adolescents are a major cause of concern. As these disorders are subject to high recurrences in adulthood. The risk factors have to be identified and prompt treatment should be initiated. 15% have depression and 56% have depressive symptoms. The causes ranged from financ ial, broken homes, or death in the family, chronic illness. Symptoms of depression were unhappiness, restlessness, agitation, anger, dis interest in a pleasurable job. In the schools failure, in academics, in 47% girls lead to depression, partiality, abuse , was also contributing factors. Several studies, in particular, a study from Delhi showed depression to be the 3rd leading cause of death. Our study showed 6% , 12% had problems at home, 73% had clear idea about future plans. The problem should be identified and a team of psychiatrics, psychologists, pediatrician should bring down the problem.

  7. A comprehensive family-based replication study of schizophrenia genes

    DEFF Research Database (Denmark)

    Aberg, Karolina A; Liu, Youfang; Bukszár, Jozsef

    2013-01-01

     768 control subjects from 6 databases and, after quality control 6298 individuals (including 3286 cases) from 1811 nuclear families. MAIN OUTCOMES AND MEASURES Case-control status for SCZ. RESULTS Replication results showed a highly significant enrichment of SNPs with small P values. Of the SNPs...... in an independent family-based replication study that, after quality control, consisted of 8107 SNPs. SETTING Linkage meta-analysis, brain transcriptome meta-analysis, candidate gene database, OMIM, relevant mouse studies, and expression quantitative trait locus databases. PATIENTS We included 11 185 cases and 10...

  8. Contribution to comprehensive study of aluminium alloy Aa 5083 ...

    African Journals Online (AJOL)

    PROMOTING ACCESS TO AFRICAN RESEARCH ... Corrosion induced by elemental mercury in aqueous media of industrial Aluminium alloys AA5083 used in heat exchanger industries of natural gas liquefaction has been studied by linear sweep voltammétry on ... EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

  9. Developing a Comprehensive Housing Strategy: A Case Study

    Science.gov (United States)

    Marsters, Tim; Bliss, Kelly

    2007-01-01

    In the current highly competitive higher education market in North America, many colleges have identified the importance of upgrading their existing residential housing facilities as part of their strategy to attract and retain students. The case study discussed in this article describes the successful planning process used by Perkins+Will and…

  10. Reading Comprehension and Translation Performance of English Linguistics Students of Hung Vuong University: A Correlational Study

    Directory of Open Access Journals (Sweden)

    Cuc Thi Kim Pham

    2017-09-01

    Full Text Available The study aimed to correlate the reading comprehension and translation performance of English linguistic students, then inform some pedagogical implications for the teaching of reading comprehension in translation classes in order to enhance the translation quality performed by the students. To this end, 45 junior students of English linguistics specialization of Hung Vuong University, including 5 males and 40 females, aged from 20 to 22, were subject to a TOEFL reading comprehension test and a translation performance test (ATA guidelines, 2011. Data were analyzed using the Pearson Correlation, SPSS version 20.0. The coefficient correlation of students’ reading comprehension and their translation performance was noted 0.721 at the significant level of 0.01. It was found that the Reading comprehension was closely related to translation performance. Along the reading comprehension question types, translation performance was affected by the ability to determine gist and main ideas of the text, identify the vocabulary, infer the implied meanings and identify the writer’s style and attitudes. The results were discussed, and implications for teaching reading comprehension to enhance translation performance were presented.

  11. Comprehensive Study of Acute Effects and Recovery After Concussion

    Science.gov (United States)

    2015-10-01

    MCW IRB regarding personality questionnaire changes and head impact sensor company changes • Amendment under review as of Sept 29, 2015 regarding...a large (3Tb) memory system, and four general purpose graphical processing unit (GPU) systems, each with four Nvidia K40 GPUs. Each of these... company changed prior to study implementation and MCW IRB provided oversight for Banyan Biomarkers’ research activities. Approved by MCW IRB Aug 24

  12. Comprehensive Study of Plasma-Wall Sheath Transport Phenomena

    Science.gov (United States)

    2016-10-26

    the floating potential of wall material samples immersed in a low-temperature plasma were studied. Hysteresis is found to be due to secondary electron...continued research into plasma sheath physics. Hysteresis effects observed in the floating potential of wall material samples immersed in a low... Journal of Applied Physics, Volume 119, March 2016, pp. 113305 1-5. DISTRIBUTION A: Distribution approved for public release. 8 Figure 2

  13. A Genetic Study of Wild Populations and Evolution A Genetic Study of Wild Populations and Evolution

    Directory of Open Access Journals (Sweden)

    Hovanitz William

    1944-06-01

    Full Text Available The determination of the scientific basis of heredity within the last two decades and the verification of the principal conclusions in many different plants and animals has made possible the application of analytical methods in the study of variations in wild populations. As with the physical and chemical sciences, genetics has been enabled to make use of mathematics to compound (often theoretically out of simple units, the genes, the complexity known as an organism, much in the same way as a chemist compounds molecules with atoms and the physicist compounds atoms with protons and electrons. The determination of the scientific basis of heredity within the last two decades and the verification of the principal conclusions in many different plants and animals has made possible the application of analytical methods in the study of variations in wild populations. As with the physical and chemical sciences, genetics has been enabled to make use of mathematics to compound (often theoretically out of simple units, the genes, the complexity known as an organism, much in the same way as a chemist compounds molecules with atoms and the physicist compounds atoms with protons and electrons.

  14. Comprehensive studies on regulatory issues of spent fuel pools

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2013-08-15

    An existence of safety issues in the spent fuel pool (SFP) was recognized by the nuclear accident at the Fukushima Daiichi Nuclear Power Station, and many reports on the accident describe needs of countermeasures for SFP under sever accidents. For research planning, thermal hydraulic behaviors of SFP and possibility of occurrence of re-criticality conditions in SFP were studied by computational approaches. In the studies on thermal hydraulic behaviors, possibilities of adiabatic conditions in a spent fuel bundle were identified because natural circulation cooling of air could be terminated due to flow path blockage by pool water and steam cooling could be terminated due to reduction of pool water evaporation originated from cold water injection by emergency water supply. In the re-criticality study, in the case of the un-borated lack, it was shown that the neutron multiplication factor became larger than unity when the difference of water levels inside and outside the channel box larger than some values. (author)

  15. Genetic diversity study of common bean ( Phaseolus vulgaris L ...

    African Journals Online (AJOL)

    In PCoA, majority individuals of Metekel (L) tended to form separate group. The result of the study confirmed the presence of genetic diversity that can be exploited to improve the productivity. This calls for a conserted efforts in the collection, conservation and sustainable use of P. vulgaris. Keywords: Genetic diversity, ISSR, ...

  16. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

  17. Study on genetic diversity in Pakistani wheat varieties using simple ...

    African Journals Online (AJOL)

    Common wheat ( Triticum aestivum L.) is a grass species, cultivated world wide. Globally, it is the most important human food grain and ranks second in total production as a cereal crop behind maize. Genetic diversity evaluation of germplasm is the basis of improvement in wheat. In the present study genetic diversity of 10 ...

  18. Molecular evaluation of genetic diversity and association studies in ...

    Indian Academy of Sciences (India)

    Molecular evaluation of genetic diversity and association studies in rice. (Oryza sativa L.) C. Vanniarajan, K. K. Vinod and Andy Pereira. J. Genet. 91, 9–19. Table 1. Chromosome-wise distribution of SSR alleles and their number (k), polymorphic information content (PIC) and allele discrimination index (Dm). Chromosome.

  19. Childhood constipation; an overview of genetic studies and associated syndromes

    NARCIS (Netherlands)

    Peeters, B.; Benninga, M. A.; Hennekam, R. C.

    2011-01-01

    Constipation is a common problem in children but little is known about its exact pathophysiology. Environmental, behavioural but also genetic factors are thought to play a role in the aetiology of childhood constipation. We provide an overview of genetic studies performed in constipation. Until now,

  20. Study of genetic diversity in Sudanese sesame (Sesamum indicum L ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-12-17

    Dec 17, 2008 ... Study of genetic diversity in Sudanese sesame. (Sesamum indicum L.) germplasm using random amplified polymorphic DNA (RAPD) markers. E. Abdellatef 1*, R. Sirelkhatem 1, M. M. Mohamed Ahmed1, K. H. Radwan2 and. M. M. Khalafalla1. 1Commission for Biotechnology and Genetic Engineering, ...

  1. The Videofluorographic Swallowing Study in Rheumatologic Diseases: A Comprehensive Review

    Science.gov (United States)

    Di Piazza, Ambra; Costanzo, Massimo; Scopelliti, Laura; Salvaggi, Francesco; Cupido, Francesco; Salerno, Sergio; Lo Casto, Antonio; Midiri, Massimo; Lo Re, Giuseppe; Lagalla, Roberto

    2017-01-01

    Autoimmune connective tissue diseases are a heterogeneous group of pathologies that affect about 10% of world population with chronic evolution in 20%–80%. Inflammation in autoimmune diseases may lead to serious damage to other organs including the gastrointestinal tract. Gastrointestinal tract involvement in these patients may also due to both a direct action of antibodies against organs and pharmacological therapies. Dysphagia is one of the most important symptom, and it is caused by failure of the swallowing function and may lead to aspiration pneumonia, malnutrition, dehydration, weight loss, and airway obstruction. The videofluorographic swallowing study is a key diagnostic tool in the detection of swallowing disorders, allowing to make an early diagnosis and to reduce the risk of gastrointestinal and pulmonary complications. This technique helps to identify both functional and structural anomalies of the anatomic chain involved in swallowing function. The aim of this review is to systematically analyze the basis of the pathological involvement of the swallowing function for each rheumatological disease and to show the main features of the videofluorographic study that may be encountered in these patients. PMID:28706536

  2. A comprehensive review of metal-induced cellular transformation studies.

    Science.gov (United States)

    Chen, Qiao Yi; Costa, Max

    2017-09-15

    In vitro transformation assays not only serve practical purposes in screening for potential carcinogenic substances in food, drug, and cosmetic industries, but more importantly, they provide a means of understanding the critical biological processes behind in vivo cancer development. In resemblance to cancer cells in vivo, successfully transformed cells display loss of contact inhibition, gain of anchorage independent growth, resistant to proper cell cycle regulation such as apoptosis, faster proliferation rate, potential for cellular invasion, and ability to form tumors in experimental animals. Cells purposely transformed using metal exposures enable researchers to examine molecular changes, dissect various stages of tumor formation, and ultimately elucidate metal induced cancer mode of action. For practical purposes, this review specifically focuses on studies incorporating As-, Cd-, Cr-, and Ni-induced cell transformation. Through investigating and comparing an extensive list of studies using various methods of metal-induced transformation, this review serves to bridge an information gap and provide a guide for avoiding procedural discrepancies as well as maximizing experimental efficiency. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. The Effect of Question Position on Listening Comprehension: A Case Study

    OpenAIRE

    Naci Yildiz; Nikoloz Parjanadze; Mustafa Albay

    2015-01-01

    Though speaking has been considered as the most important skill in foreign language learning process, listening has a fundamental value because learning does not occur without comprehensible input. Listening is a complex process in which learners must do analysis to accurately interpret. In listening learners need to interpret with a speaker to construct meaning. This study tries to find out whether listening strategies are effective to influence listening comprehension and the major goal of ...

  4. 1,2-Propanediol. Comprehensive experimental and theoretical study

    International Nuclear Information System (INIS)

    Verevkin, Sergey P.; Emel'yanenko, Vladimir N.; Nell, Gernot

    2009-01-01

    The standard (p 0 =0.1MPa) molar enthalpy of formation at the temperature 298.15 K of the liquid 1,2-propanediol was measured using combustion calorimetry. Molar enthalpies of vaporization of isomeric 1,2-propanediols were obtained from the temperature dependence of the vapor pressure measured by the transpiration method. Thermochemical investigations of 1,2-ethanediol and 1,2-propanediol available in the literature were collected and combined with own experimental results. This collection together with the new experimental results reported here has helped to resolve contradictions in the available sublimation enthalpies data and to recommend consistent and reliable set of vaporization and formation enthalpies for both diols under study. Ab initio calculations of gaseous molar enthalpy of formation of 1,2-ethanediol and 1,2-propanediol have been performed using the G3MP2 method and results are in excellent agreement with the selected experimental data.

  5. A comprehensive review of oil spill combustion studies

    International Nuclear Information System (INIS)

    Walavalkar, A.Y.; Kulkarni, A.K.

    1996-01-01

    The complex process of in-situ burning of oil or a water-in-oil emulsion floating on top of a water-base, such as the ocean, was discussed. The process was examined before, during and after actual combustion. In general, the success of oil spill combustion is measured in terms of the fraction of the spilled oil or emulsion that is burned away. However, the air and aquatic pollution caused by the combustion should also be considered. The physical conditions such as wind velocity, waves and the presence or absence of a containment device, such as a fire boom, could determine the continuation of the combustion process. An overview of the oil spill combustion techniques was provided. There still remains a need for fundamental studies, especially in mathematical modeling, to understand the basic mechanisms and predict the applicability of the in-situ combustion. 74 refs., 7 tabs., 3 figs

  6. Wuskwatim generation project : Canadian Environmental Assessment Act comprehensive study report

    International Nuclear Information System (INIS)

    2005-10-01

    This study report described the plan by Manitoba Hydro and the Nisichawayasihk Cree Nation (NCN) to construct a new 200- megawatt (MW) generating station at Taskinigup Falls on the Burntwood River, near the outlet of Wuskwatim Lake. This hydroelectric power project will allow Manitoba Hydro to meet its projected energy needs within the next two decades as identified in its 2002/03 Power Resource Plan. It will also allow Manitoba Hydro and NCN to obtain additional export revenues and profits by advancing the in-service date of the Project from 2020 to 2009. A formal environmental assessment is required under the Canadian Environmental Assessment Act (CEAA) because Fisheries and Oceans Canada (DFO) has determined that the Project would cause fish habitat losses requiring an authorization under the Fisheries Act. Many of the structures to be built in navigable waters would also require formal approval under the Navigable Waters Protection Act (NWPA), which has prompted this application of the CEAA. This environmental assessment report has been prepared by DFO in consultation with Transport Canada and other federal authorities concerned. It provides a summary of the Wuskwatim Generation Project and the environment in which it will be built and operated. In addition, the results of public consultations are discussed. It presents an assessment of the Project's influence on fish and fish habitat, birds, species at risk, human health (local air quality, quality of drinking water and consumption of fishery products), navigation, use of renewable resources, and current use of lands and resources for traditional purposes by Aboriginal persons (hunting, trapping, gathering, subsistence fishing and heritage sites). It was concluded that the proposed Project, as defined by the scope of the study, is not likely to cause significant adverse environmental effects. 45 refs., 5 tabs., 13 figs., 3 appendices

  7. Comprehensive study of psi meson production. Progress report

    International Nuclear Information System (INIS)

    Jones, S.T.; Harms, B.C.

    1985-01-01

    Our first paper under this grant is a calculation of prompt lepton production in upsilon and toponium decay. The results should prove useful in identifying signals for charm or bottom production. Our work has led to some improvement in our understanding of psi production in hadronic interactions, although further work is needed. Attempts to explain the difference between experimental and theoretical rates of psi hadroproduction led to a study of quark-gluon scattering, which proved to have a negative impact on the theoretical cross section once a leading mass singularity was absorbed into the gluon distribution function. Our study of psi production in B meson decays has led to an improvement in the leading-log calculation of this rate, which gives a much more precise prediction of the decay rate. We have also calculated all first-order QCD corrections to this weak process. We are now completing a companion calculation of n/sub c/ production, for which there is presently no data. Dr. Harms and Dr. Cox have collaborated on an attempt to determine the dominant contribution to the difference sigma(pN → psi x) - sigma(anti pN → psi x). The lowest order process contributing to this difference (q anti q → psi GG) has been shown previously to be small. They have calculated the next order process (q anti q → G*G* → psi G) and have apparently uncovered a new example of the violation of the Bloch-Nordsieck mechanism in QCD. Our work outside the realm of QCD has included a new fit to the total pp and anti pp cross sections. Dr. Cox has also been pursuing the question of representations of extended (especially N=8) supersymmetry

  8. Genetic diversity, classification and comparative study on the larval ...

    African Journals Online (AJOL)

    Genetic diversity, classification and comparative study on the larval phenotypic ... B. mori showed different performance based on larval phenotypic data. The analysis of variance regarding the studied traits showed that different strains have ...

  9. Comprehensive Study of the Model Mercury-Based Cuprate Superconductors

    Energy Technology Data Exchange (ETDEWEB)

    Greven, Martin [Univ. of Minnesota, Minneapolis, MN (United States)

    2017-11-13

    This is the Final Report on DE-SC0006858, which opened 15 August 2011 and closed 14 August 2017. The Principal Investigator is Martin Greven, School of Physics and Astronomy, University of Minnesota, Minneapolis, MN 555455 (email: greven@umn.edu). The Administrative Point of Contact is Patricia Jondahl, phone: 612-624-5599, email: awards@umn.edu. The DOE Program is the Office of Basic Energy Sciences, Program manager is Dr. P. Thiyagarajan, Neutron Scattering SC-22.2/ Germantown Bldg. (email: Thiyagarajan@science.doe.gov). The chief activity was the crystal growth, characterization, neutron and X-ray scattering study of the mercury-based cuprates, arguably the most desirable high-Tc superconductors for experimental study due to their record values of Tc and their relatively simple crystal structures. It is thought that the unusual magnetic and charge degrees of freedom of the copper-oxygen sheets that form the fundamental building block of all cuprate superconductors give rise to the high Tc and to many other unusual properties exhibited by the class of quantum materials. Neutron scattering experiments were performed to reveal the nature of the magnetic degrees of freedom of the copper-oxygen sheets, whereas X-ray scattering experiments and complementary charge-transport experiments were performed to reveal the nature of the charge degrees of freedom. In addition, collaborations were initiated with experts in the use of complementary experimental techniques. The primary products are (i) scientific articles published in peer-reviewed scientific journals, (ii) scientific presentations at national and international conferences, and (iii) education of postdoctoral researchers, PhD graduate students and undergraduate researchers by providing a research experience in crystal growth, characterization and scattering. Twenty scientific papers were published in peer-reviewed journals, thirty-one invited talks were presented at national or international conferences, or as

  10. Big Data in HEP: A comprehensive use case study

    Science.gov (United States)

    Gutsche, Oliver; Cremonesi, Matteo; Elmer, Peter; Jayatilaka, Bo; Kowalkowski, Jim; Pivarski, Jim; Sehrish, Saba; Mantilla Surez, Cristina; Svyatkovskiy, Alexey; Tran, Nhan

    2017-10-01

    Experimental Particle Physics has been at the forefront of analyzing the worlds largest datasets for decades. The HEP community was the first to develop suitable software and computing tools for this task. In recent times, new toolkits and systems collectively called Big Data technologies have emerged to support the analysis of Petabyte and Exabyte datasets in industry. While the principles of data analysis in HEP have not changed (filtering and transforming experiment-specific data formats), these new technologies use different approaches and promise a fresh look at analysis of very large datasets and could potentially reduce the time-to-physics with increased interactivity. In this talk, we present an active LHC Run 2 analysis, searching for dark matter with the CMS detector, as a testbed for Big Data technologies. We directly compare the traditional NTuple-based analysis with an equivalent analysis using Apache Spark on the Hadoop ecosystem and beyond. In both cases, we start the analysis with the official experiment data formats and produce publication physics plots. We will discuss advantages and disadvantages of each approach and give an outlook on further studies needed.

  11. A comprehensive experimental and modeling study of isobutene oxidation

    KAUST Repository

    Zhou, Chong-Wen; Li, Yang; O'Connor, Eoin; Somers, Kieran P.; Thion, Sé bastien; Keesee, Charles; Mathieu, Olivier; Petersen, Eric L.; DeVerter, Trent A.; Oehlschlaeger, Matthew A.; Kukkadapu, Goutham; Sung, Chih-Jen; Alrefae, Majed; Khaled, Fathi; Farooq, Aamir; Dirrenberger, Patricia; Glaude, Pierre-Alexandre; Battin-Leclerc, Fré dé rique; Santner, Jeffrey; Ju, Yiguang; Held, Timothy; Haas, Francis M.; Dryer, Frederick L.; Curran, Henry J.

    2016-01-01

    The differences in low-temperature chemistry between alkanes and alkenes are also highlighted in this work. In normal alkanes, the fuel radical Ṙ adds to molecular oxygen forming alkylperoxyl (RȮ2) radicals followed by isomerization and chain branching reactions which promote low-temperature fuel reactivity. However, in alkenes, because of the relatively shallow well (∼20 kcal mol–1) for RȮ2 formation compared to ∼35 kcal mol–1 in alkanes, the Ṙ + O2 ⇌ RȮ2 equilibrium lies more to the left favoring Ṙ + O2 rather than RȮ2 radical stabilization. Based on this work, and related studies of allylic systems, it is apparent that reactivity for alkene components at very low temperatures (<800 K) emanates from hydroxyl radical addition followed by addition of molecular oxygen to radical. At intermediate temperatures (800–1300 K), alkene reactivity is controlled by hydrogen abstraction by molecular oxygen and the reactions between resonantly stabilized radicals and hydroperoxyl radicals which results in chain branching. At higher temperatures (>1300 K), the reactivity is mainly governed by the competition between hydrogen abstractions by molecular oxygen and ȮH radicals.

  12. A comprehensive experimental and modeling study of 2-methylbutanol combustion

    KAUST Repository

    Park, Sungwoo

    2015-05-01

    2-Methylbutanol (2-methyl-1-butanol) is one of several next-generation biofuels that can be used as an alternative fuel or blending component for combustion engines. This paper presents new experimental data for 2-methylbutanol, including ignition delay times in a high-pressure shock tube and premixed laminar flame speeds in a constant volume combustion vessel. Shock tube ignition delay times were measured for 2-methylbutanol/air mixtures at three equivalence ratios, temperatures ranging from 750 to 1250. K, and at nominal pressures near 20 and 40. bar. Laminar flame speed data were obtained using the spherically propagating premixed flame configuration at pressures of 1, 2, and 5. bar. A detailed chemical kinetic model for 2-methylbutanol oxidation was developed including high- and low-temperature chemistry based on previous modeling studies on butanol and pentanol isomers. The proposed model was tested against new and existing experimental data at pressures of 1-40. atm, temperatures of 740-1636. K, equivalence ratios of 0.25-2.0. Reaction path and sensitivity analyses were conducted for identifying key reactions at various combustion conditions, and to obtain better understanding of the combustion characteristics of larger alcohols.

  13. Saint John lateral pipeline project: comprehensive study report

    International Nuclear Information System (INIS)

    1999-02-01

    A descripion is given of the results of an environmental impact assessment of the construction of a natural gas pipeline that will bring gas from Maritimes and Northeast Pipeline Management Ltd.'s (M and NP) main transmission pipeline to clients in Lake Utopia and Saint John, NB. It will be 110 km long, and the Saint John lateral will join the mainline approximately 2 km south of Big Kedron Lake, NB. Various institutional, industrial, commercial and residential clients will be able to access the pipeline in the future, and it is intended to be capable of future expansion for markets along its route and for markets that become economically feasible in the future. A matrix was developed that relates environmental resources to Environmental Components of Concern (ECCs), and to the rationale for exclusion/inclusion of the ECC as a Valued Environmental Component (VECs). The positive benefits of the pipeline to clients in the Saint John area include: reduced dependence on foreign oil, fuel switching and price competition, lower air emission pollution, increased energy efficiency, and a source of energy that is secure and reliable. VECs were selected based on: concerns of various stakeholders including the public, community groups, scientific parties, Aboriginal groups, government officials and agencies, relevant regulations; relevant literature; and past evaluation experiences, including future developments of the proposed study area. Further selection of the VECs required an examination of the issues picked out via scoping to determine the ways in which the overall project could affect the ECCs, and included construction, operation, decommissioning/abandonment, malfunctions and accidents of the pipeline. The phases of the project as they impacted residually and cumulatively on the VECs were evaluated, and impacts on Valued Socio-Economic Components (VSCs) were assessed also. The mitigation efforts taken will minimize the potential effects of the project on VECs and VSCs

  14. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    residual genetic influence existed. Based on information about habitual diet from the FFQ the genetic influence on total energy intake, macronutrient intake, as well as intake of energy from 20 food groups, was estimated. The proportion of variation in dietary intake explained by variation in genes...... exposures as well as genetic differences between individuals, resulting in differentiated susceptibility to environmental exposures. The evidence for genetic influence on anthropometry has previously been established and has been estimated to be 60-70% based on twin studies. These inter...... mass, but only limited evidence for associations between habitual dietary intake and anthropometry exists. Differences in habitual dietary intake are also partly determined by differences in genes influencing smell and taste preferences. But, so far, only few studies have investigated genetic...

  15. Performance Demands in Softball Pitching: A Comprehensive Muscle Fatigue Study.

    Science.gov (United States)

    Corben, Jeffrey S; Cerrone, Sara A; Soviero, Julie E; Kwiecien, Susan Y; Nicholas, Stephen J; McHugh, Malachy P

    2015-08-01

    Monitoring pitch count is standard practice in minor league baseball but not in softball because of the perception that fast-pitch softball pitching is a less stressful motion. To examine muscle fatigue after fast-pitch softball performances to provide an assessment of performance demand. Descriptive laboratory study. Bilateral strength measurements (handheld dynamometer) were made on 19 female softball pitchers (mean age [±SD], 15.2 ± 1.2 years) before and after pitching a game (mean number of pitches, 99 ± 21; mean innings pitched, 5 ± 1). A total of 20 tests were performed on the dominant and nondominant sides: forearm (grip, wrist flexion/extension, pronation/supination, elbow flexion/extension), shoulder (flexion, abduction/adduction, external/internal rotation, empty can test), scapula (middle/lower trapezius, rhomboid), and hip (hip flexion/extension, abduction/adduction). Fatigue (percentage strength loss) was categorized based on bilateral versus unilateral presentation using paired t tests: bilateral symmetric (significant on dominant and nondominant and not different between sides), bilateral asymmetric (significant on dominant and nondominant but significantly greater on dominant), unilateral asymmetric (significant on dominant only and significantly greater than nondominant), or unilateral equivocal (significant on dominant only but not different from nondominant). Bilateral symmetric fatigue was evident for all hip (dominant, 19.3%; nondominant, 15.2%) and scapular tests (dominant, 19.2%; nondominant, 19.3%). In general, shoulder tests exhibited bilateral asymmetric fatigue (dominant, 16.9%; nondominant, 11.6%). Forearm tests were more variable, with bilateral symmetric fatigue in the elbow flexors (dominant, 22.5%; nondominant, 19.2%), and wrist flexors (dominant, 21.6%; nondominant, 19.0%), bilateral asymmetric fatigue in the supinators (dominant, 21.8%; nondominant, 15.5%), unilateral asymmetric fatigue in the elbow extensors (dominant, 22

  16. A Study on the Comprehensive and Integrated Workplace Safety and Health Services in Singapore.

    Science.gov (United States)

    Chia, Sin Eng; Wah, Lim John; Khim, Judy Sng Gek; Yoong, Joanne; Lim, Raymond Boon Tar; Seng, Chia Kee

    2015-09-01

    The aim of this study was to evaluate the level of comprehensiveness and integration of workplace safety and health (WSH) services (safety, occupational health, and well-being) in Singapore. Thirty workplaces from five different sectors comprising more than 28,000 workers were assessed using three custom-developed tools. One quarter of the workplaces have applied the principles of comprehensive and integrated WSH. Among those that managed WSH comprehensively, workers were 4.4 times (95% confidence interval [CI], 2.33 to 8.25) more likely to be proud to work for their company, 7.4 times (95% CI, 3.96 to 13.90) more likely to be satisfied with their current job, and 1.7 times (95% CI, 1.21 to 2.32) more likely to balance the demands of work and home. There is a need to enhance awareness and education on comprehensive and integrated WSH in Singapore companies.

  17. Autism genetic database (AGD: a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

    Directory of Open Access Journals (Sweden)

    Talebizadeh Zohreh

    2009-09-01

    Full Text Available Abstract Background Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. Description AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. Conclusion AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research

  18. Studies on the genetic effects of radiation

    International Nuclear Information System (INIS)

    Cheong, Kyu Hoi; Cheong, Hae Won; Cheon, Kwi Cheong; Kim, Chae Sung

    1985-01-01

    To investigate genetic damage of radiation in mammalian male germ cell, sperm head counts, frequency of sperm with abnormal head shape, fertility, activity of LDH-X, and the induction of unscheduled DNA synthesis in testis were measured periodically after irradiation. Sperm head counts and activities of LDH-X in testes were gradually reduced by increased radiation dose and with the passing of the time after irradiation. Frequency occurrence of sperm of abnormal head shape, sterile period, and the induction of unscheduled DNA synthesis were increased. (Author)

  19. Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa : A Case Report

    NARCIS (Netherlands)

    Weeber, Fleur; Koudijs, Marco J; Hoogstraat, Marlous; Besselink, Nicolle J M; VAN Lieshout, Stef; Nijman, Isaac J; Cuppen, Edwin; Offerhaus, G Johan; Voest, Emile E

    BACKGROUND/AIM: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms. The exact genetic alterations underlying the pathophysiology of PEComas are largely unknown, although it has been shown that activation of the Mammalian target of rapamycin (mTOR) signaling pathway plays a

  20. A Case Study of the Impact of Guided Reading Groups in Second Grade on Comprehension Improvement

    Science.gov (United States)

    Lorent Deegan, Chanin E.

    2010-01-01

    This study combined both qualitative and quantitative research to determine the impact of instructional practices on comprehension improvement in second grade Guided Reading groups. Four second grade teachers and their 73 students ages seven through eight years old participated in this study. Additionally, the study examined the effects of Guided…

  1. A unifying study of phenotypic and molecular genetic variability in ...

    Indian Academy of Sciences (India)

    2014-04-25

    Apr 25, 2014 ... future studies from the authors. The remaining leaves ... βij the random contribution for the jth individual of the ith biogeographic province ... quantifying genetic structure accounting for the complexities of spatial correlation in ...

  2. Molecular Genetic Studies of Some Eye Diseases Affecting the ...

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. Molecular Genetic Studies of Some Eye Diseases Affecting the Indian Population. Single gene disorders. Complex eye diseases. Genotype-phenotype correlation. Molecular diagnostics.

  3. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  4. Generalizing genetical genomics : getting added value from environmental perturbation

    NARCIS (Netherlands)

    Li, Yang; Breitling, Rainer; Jansen, Ritsert C.

    2008-01-01

    Genetical genomics is a useful approach for studying the effect of genetic perturbations on biological systems at the molecular level. However, molecular networks depend on the environmental conditions and, thus, a comprehensive understanding of biological systems requires studying them across

  5. Proverb comprehension in context: a developmental study with children and adolescents.

    Science.gov (United States)

    Nippold, M A; Martin, S A; Erskine, B J

    1988-03-01

    Although previous studies have reported that proverb comprehension remains quite literal before adolescence, the results of the present study indicated that fourth graders performed well on a proverb comprehension task involving contextual information and a written multiple choice format. It was also found that performance on the proverb task steadily improved at least through the eighth grade and was significantly correlated to performance on a perceptual analogical reasoning task. The study contributes to the small but growing body of information concerning language development during the preadolescent and adolescent years and may have some important implications for the assessment of youngsters of this age range who have comprehension deficits that are troublesome, yet difficult to document.

  6. Getting the Joke: Insight during Humor Comprehension - Evidence from an fMRI Study.

    Science.gov (United States)

    Tian, Fang; Hou, Yuling; Zhu, Wenfeng; Dietrich, Arne; Zhang, Qinglin; Yang, Wenjing; Chen, Qunlin; Sun, Jiangzhou; Jiang, Qiu; Cao, Guikang

    2017-01-01

    As a high-level cognitive activity, humor comprehension requires incongruity detection and incongruity resolution, which then elicits an insight moment. The purpose of the study was to explore the neural basis of humor comprehension, particularly the moment of insight, by using both characters and language-free cartoons in a functional magnetic resonance imaging study. The results showed that insight involving jokes elicited greater activation in language and semantic-related brain regions as well as a variety of additional regions, such as the superior frontal gyrus (SFG), the inferior frontal gyrus (IFG), the middle temporal gyrus (MTG), the superior temporal gyrus (STG), the temporoparietal junctions (TPJ), the hippocampus and visual areas. These findings indicate that the MTG might play a role in incongruity detection, while the SFG, IFG and the TPJ might be involved in incongruity detection. The passive insight event elicited by jokes appears to be mediated by a limited number of brain areas. Our study showed that the brain regions associated with humor comprehension were not affected by the type of stimuli and that humor and insight shared common brain areas. These results indicate that one experiences a feeling of insight during humor comprehension, which contributes to the understanding of humor comprehension.

  7. A Correlation Study between EFL Strategic Listening and Listening Comprehension Skills among Secondary School Students

    Science.gov (United States)

    Amin, Iman Abdul-Reheem; Amin, Magdy Mohammad; Aly, Mahsoub Abdul-Sadeq

    2011-01-01

    The present study was undertaken to investigate the correlation between EFL students strategic listening and their listening comprehension skills. Eighty secondary school students participated in this study. Participants' strategic listening was measured by a Strategic Listening Interview (SLI), a Strategic Listening Questionnaire (SLQ) and a…

  8. Promoting Acceleration of Comprehension and Content through Text in High School Social Studies Classes

    Science.gov (United States)

    Wanzek, Jeanne; Swanson, Elizabeth A.; Roberts, Greg; Vaughn, Sharon; Kent, Shawn C.

    2015-01-01

    The purpose of this study was to evaluate the efficacy of Promoting Acceleration of Comprehension and Content Through Text intervention implemented with 11th-grade students enrolled in U.S. History classes. Using a within-teacher randomized design, the study was conducted in 41 classes (23 treatment classes) with 14 teachers providing the…

  9. An Exploratory Study of NNES Graduate Students' Reading Comprehension of English Journal Articles

    Science.gov (United States)

    Chen, Kate Tzu-Ching

    2017-01-01

    The academic success of non-native English speaker (NNES) graduate students greatly relies on their ability to read and comprehend English journal articles (EJA). The purpose of this study was to identify NNES graduate students' comprehension difficulties and reading strategies when reading EJA. In addition, the study explored how the relationship…

  10. Exploring the Causes of Listening Comprehension Anxiety from EFL Saudi Learners’ Perspectives: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Ibrahim Otair

    2017-08-01

    Full Text Available Anxiety is an important factor in foreign language learning. Very few studies have been done on English as a Foreign Language (EFL Saudi students in listening classes. Therefore, this pilot study was aimed at exploring the causes of listening comprehension anxiety from EFL Saudi learners’ perspectives at Majmaah University, Saudi Arabia. The pilot study involved two students who were selected based on the following criteria: 1 Only Saudi male undergraduate students who enrolled in Preparatory Year Program (PYP at Majmaah University would be involved in this study, 2 The students who had studied or lived in native English speaking countries would be excluded. The researcher used pseudonyms to refer to the participants as Mohammad and Ismail. This study employed a qualitative case study research design. The data were collected through Semi-structured interviews with the participants. The interview sessions were audiotaped and transcribed. The results show that the participants experienced a high level of anxiety when doing the listening comprehension tasks. Three main causes of listening comprehension anxiety emerged from this study: 1 the problematic nature of listening comprehension, 2 the classroom atmosphere, and 3 the low English proficiency of the students.

  11. Impact of Nursery Rhymes on Iranian EFL Learners’ Listening Comprehension Skill Improvement-A Study

    Directory of Open Access Journals (Sweden)

    Omid Pourkalhor

    2017-06-01

    Full Text Available The present study was an attempt to investigate the effect of nursery rhymes on the young language learners listening comprehension ability. To do so, 30 elementary learners were selected as the potential participants of the study. The learners’ perceptions about using nursery rhymes in teaching listening as well as teachers’ perceptions about teaching listening comprehension through nursery rhymes were taken into account. The listening pre- and post-tests and teachers and learners’ interviews were employed for data collection procedures. Quantitative as well as qualitative methodologies were adapted for data analysis. Findings showed that the young learners could improve their listening comprehension ability as a result of using nursery rhymes. Interview data also indicated that the learners’ perceptions about nursery rhymes were found to be positive since the rhymes provided an interesting atmosphere for the learners to improve their listening comprehension while benefiting from peer interaction and teacher’s support in the listening classroom. Teachers’ perceptions were also realistic regarding using nursery rhymes in teaching listening, especially for young learners. As to the implication side, finding can contribute to the positive application of nursery rhymes in paving the way for young learners to improve their listening comprehension ability.

  12. A cross-language study of decontextualized vocabulary comprehension in toddlerhood and kindergarten readiness.

    Science.gov (United States)

    Friend, Margaret; Smolak, Erin; Liu, Yushuang; Poulin-Dubois, Diane; Zesiger, Pascal

    2018-04-05

    Recent studies demonstrate that emerging literacy depends on earlier language achievement. Importantly, most extant work focuses on parent-reported production prior to 30 months of age. Of interest is whether and how directly assessed vocabulary comprehension in the 2nd year of life supports vocabulary and kindergarten readiness in the 4th year. We first contrasted orthogonal indices of parent-reported production and directly assessed vocabulary comprehension and found that comprehension was a stronger predictor of child outcomes. We then assessed prediction from vocabulary comprehension controlling for maternal education, preschool attendance, and child sex. In 3 studies early, decontextualized vocabulary comprehension emerged as a significant predictor of 4th year language and kindergarten readiness accounting for unique variance above demographic control variables. Further we found that the effect of early vocabulary on 4th year kindergarten readiness was not mediated by 4th year vocabulary. This pattern of results emerged in English monolingual children (N = 48) and replicated in French monolingual (N = 58) and French-English bilingual children (N = 34). Our findings suggest that early, decontextualized vocabulary may provide a platform for the establishment of a conceptual system that supports both later vocabulary and kindergarten readiness, including the acquisition of a wide range of concepts including print and number. Differences between parent-reported and directly assessed vocabulary and the mechanisms by which decontextualized vocabulary may contribute to conceptual development are discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  13. A rangewide population genetic study of trumpeter swans

    Science.gov (United States)

    Oyler-McCance, S.J.; Ransler, F.A.; Berkman, L.K.; Quinn, T.W.

    2007-01-01

    For management purposes, the range of naturally occurring trumpeter swans (Cygnus buccinator) has been divided into two populations, the Pacific Coast Population (PP) and the Rocky Mountain Population (RMP). Little is known about the distribution of genetic variation across the species' range despite increasing pressure to make difficult management decisions regarding the two populations and flocks within them. To address this issue, we used rapidly evolving genetic markers (mitochondrial DNA sequence and 17 nuclear microsatellite loci) to elucidate the underlying genetic structure of the species. Data from both markers revealed a significant difference between the PP and RMP with the Yukon Territory as a likely area of overlap. Additionally, we found that the two populations have somewhat similar levels of genetic diversity (PP is slightly higher) suggesting that the PP underwent a population bottleneck similar to a well-documented one in the RMP. Both genetic structure and diversity results reveal that the Tri-State flock, a suspected unique, non-migratory flock, is not genetically different from the Canadian flock of the RMP and need not be treated as a unique population from a genetic standpoint. Finally, trumpeter swans appear to have much lower mitochondrial DNA variability than other waterfowl studied thus far which may suggest a previous, species-wide bottleneck. ?? 2007 Springer Science+Business Media, Inc.

  14. Insights from human genetic studies of lung and organ fibrosis.

    Science.gov (United States)

    Garcia, Christine Kim

    2018-01-02

    Genetic investigations of fibrotic diseases, including those of late onset, often yield unanticipated insights into disease pathogenesis. This Review focuses on pathways underlying lung fibrosis that are generalizable to other organs. Herein, we discuss genetic variants subdivided into those that shorten telomeres, activate the DNA damage response, change resident protein expression or function, or affect organelle activity. Genetic studies provide a window into the downstream cascade of maladaptive responses and pathways that lead to tissue fibrosis. In addition, these studies reveal interactions between genetic variants, environmental factors, and age that influence the phenotypic spectrum of disease. The discovery of forces counterbalancing inherited risk alleles identifies potential therapeutic targets, thus providing hope for future prevention or reversal of fibrosis.

  15. Molecular characterization and population structure study of cambuci: strategy for conservation and genetic improvement.

    Science.gov (United States)

    Santos, D N; Nunes, C F; Setotaw, T A; Pio, R; Pasqual, M; Cançado, G M A

    2016-12-19

    Cambuci (Campomanesia phaea) belongs to the Myrtaceae family and is native to the Atlantic Forest of Brazil. It has ecological and social appeal but is exposed to problems associated with environmental degradation and expansion of agricultural activities in the region. Comprehensive studies on this species are rare, making its conservation and genetic improvement difficult. Thus, it is important to develop research activities to understand the current situation of the species as well as to make recommendations for its conservation and use. This study was performed to characterize the cambuci accessions found in the germplasm bank of Coordenadoria de Assistência Técnica Integral using inter-simple sequence repeat markers, with the goal of understanding the plant's population structure. The results showed the existence of some level of genetic diversity among the cambuci accessions that could be exploited for the genetic improvement of the species. Principal coordinate analysis and discriminant analysis clustered the 80 accessions into three groups, whereas Bayesian model-based clustering analysis clustered them into two groups. The formation of two cluster groups and the high membership coefficients within the groups pointed out the importance of further collection to cover more areas and more genetic variability within the species. The study also showed the lack of conservation activities; therefore, more attention from the appropriate organizations is needed to plan and implement natural and ex situ conservation activities.

  16. On coding genotypes for genetic markers with multiple alleles in genetic association study of quantitative traits

    Directory of Open Access Journals (Sweden)

    Wang Tao

    2011-09-01

    Full Text Available Abstract Background In genetic association study of quantitative traits using F∞ models, how to code the marker genotypes and interpret the model parameters appropriately is important for constructing hypothesis tests and making statistical inferences. Currently, the coding of marker genotypes in building F∞ models has mainly focused on the biallelic case. A thorough work on the coding of marker genotypes and interpretation of model parameters for F∞ models is needed especially for genetic markers with multiple alleles. Results In this study, we will formulate F∞ genetic models under various regression model frameworks and introduce three genotype coding schemes for genetic markers with multiple alleles. Starting from an allele-based modeling strategy, we first describe a regression framework to model the expected genotypic values at given markers. Then, as extension from the biallelic case, we introduce three coding schemes for constructing fully parameterized one-locus F∞ models and discuss the relationships between the model parameters and the expected genotypic values. Next, under a simplified modeling framework for the expected genotypic values, we consider several reduced one-locus F∞ models from the three coding schemes on the estimability and interpretation of their model parameters. Finally, we explore some extensions of the one-locus F∞ models to two loci. Several fully parameterized as well as reduced two-locus F∞ models are addressed. Conclusions The genotype coding schemes provide different ways to construct F∞ models for association testing of multi-allele genetic markers with quantitative traits. Which coding scheme should be applied depends on how convenient it can provide the statistical inferences on the parameters of our research interests. Based on these F∞ models, the standard regression model fitting tools can be used to estimate and test for various genetic effects through statistical contrasts with the

  17. Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

    Energy Technology Data Exchange (ETDEWEB)

    Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

    1974-01-01

    The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general.

  18. Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

    International Nuclear Information System (INIS)

    Freire-Maia, A.

    1974-01-01

    The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general [pt

  19. Effects of Strategy Instruction in an EFL Reading Comprehension Course: A Case Study

    Directory of Open Access Journals (Sweden)

    Sergio Lopera Medina

    2012-01-01

    Full Text Available Strategy instruction is useful in teaching contexts. This paper examines the effects of strategy instruction in an EFL reading comprehension course carried out with 26 undergraduate students at a Colombian university. As a research method, a case study was implemented. There were three instruments with which to collect data: reading comprehension tests, teacher's field notes and self-reflection in class at the strategy instruction phase, and a learning perception questionnaire. Given that students improved in reading comprehension, it would seem that reading strategy instruction is indeed very useful. Also, it was noted that when students applied reading strategies, they became more self-confident and this in turn enhanced their motivation. Finally, when students applied the reading strategy approach, the use of dictionaries decreased considerably.

  20. A Study of the Application of Big Data in a Rural Comprehensive Information Service

    Directory of Open Access Journals (Sweden)

    Leifeng Guo

    2015-05-01

    Full Text Available Big data has attracted extensive interest due to its potential tremendous social and scientific value. Researchers are also trying to extract potential value from agriculture big data. This paper presents a study of information services based on big data from the perspective of a rural comprehensive information service. First, we introduce the background of the rural comprehensive information service, and then we present in detail the National Rural Comprehensive Information Service Platform (NRCISP, which is supported by the national science and technology support program. Next, we discuss big data in the NRCISP according to data characteristics, data sources, and data processing. Finally, we discuss a service model and services based on big data in the NRCISP.

  1. Comprehension of metaphors and idioms in patients with Alzheimer's disease: a longitudinal study.

    Science.gov (United States)

    Papagno, C

    2001-07-01

    Language in patients with Alzheimer's disease has been extensively studied, with the exception of non-literal language comprehension. However, in our speech, we often make use of expressions, which are not necessarily interpreted on a literal ground. Comprehension of metaphors and idioms was examined in 39 patients with probable early Alzheimer's disease. The results showed that the decline of figurative language is not an early symptom of dementia and can occur independently from the impairment of propositional language. It was also found that metaphors and idioms differ as far as the predominant kind of error is concerned.

  2. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies

    Directory of Open Access Journals (Sweden)

    Qiong Yang

    2012-01-01

    Full Text Available Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical or different types of components (e.g., some are continuous and others are categorical. We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  3. Multivariate analysis in a genetic divergence study of Psidium guajava.

    Science.gov (United States)

    Nogueira, A M; Ferreira, M F S; Guilhen, J H S; Ferreira, A

    2014-12-18

    The family Myrtaceae is widespread in the Atlantic Forest and is well-represented in the Espírito Santo State in Brazil. In the genus Psidium of this family, guava (Psidium guajava L.) is the most economically important species. Guava is widely cultivated in tropical and subtropical countries; however, the widespread cultivation of only a small number of guava tree cultivars may cause the genetic vulnerability of this crop, making the search for promising genotypes in natural populations important for breeding programs and conservation. In this study, the genetic diversity of 66 guava trees sampled in the southern region of Espírito Santo and in Caparaó, MG, Brazil were evaluated. A total of 28 morphological descriptors (11 quantitative and 17 multicategorical) and 18 microsatellite markers were used. Principal component, discriminant and cluster analyses, descriptive analyses, and genetic diversity analyses using simple sequence repeats were performed. Discrimination of accessions using molecular markers resulted in clustering of genotypes of the same origin, which was not observed using morphological data. Genetic diversity was detected between and within the localities evaluated, regardless of the methodology used. Genetic differentiation among the populations using morphological and molecular data indicated the importance of the study area for species conservation, genetic erosion estimation, and exploitation in breeding programs.

  4. Neural circuit of verbal humor comprehension in schizophrenia - an fMRI study

    Directory of Open Access Journals (Sweden)

    Przemysław Adamczyk

    2017-01-01

    Full Text Available Individuals with schizophrenia exhibit problems with understanding the figurative meaning of language. This study evaluates neural correlates of diminished humor comprehension observed in schizophrenia. The study included chronic schizophrenia (SCH outpatients (n = 20, and sex, age and education level matched healthy controls (n = 20. The fMRI punchline based humor comprehension task consisted of 60 stories of which 20 had funny, 20 nonsensical and 20 neutral (not funny punchlines. After the punchlines were presented, the participants were asked to indicate whether the story was comprehensible and how funny it was. Three contrasts were analyzed in both groups reflecting stages of humor processing: abstract vs neutral stories - incongruity detection; funny vs abstract - incongruity resolution and elaboration; and funny vs neutral – complete humor processing. Additionally, parametric modulation analysis was performed using both subjective ratings separately. Between-group comparisons revealed that the SCH subjects had attenuated activation in the right posterior superior temporal gyrus (BA 41 in case of irresolvable incongruity processing of nonsensical puns; in the left dorsomedial middle and superior frontal gyri (BA 8/9 in case of incongruity resolution and elaboration processing of funny puns; and in the interhemispheric dorsal anterior cingulate cortex (BA 24 in case of complete processing of funny puns. Additionally, during comprehensibility ratings the SCH group showed a suppressed activity in the left dorsomedial middle and superior frontal gyri (BA 8/9 and revealed weaker activation during funniness ratings in the left dorsal anterior cingulate cortex (BA 24. Interestingly, these differences in the SCH group were accompanied behaviorally by a protraction of time in both types of rating responses and by indicating funny punchlines less comprehensible. Summarizing, our results indicate neural substrates of humor comprehension

  5. Neural circuit of verbal humor comprehension in schizophrenia - an fMRI study.

    Science.gov (United States)

    Adamczyk, Przemysław; Wyczesany, Miroslaw; Domagalik, Aleksandra; Daren, Artur; Cepuch, Kamil; Błądziński, Piotr; Cechnicki, Andrzej; Marek, Tadeusz

    2017-01-01

    Individuals with schizophrenia exhibit problems with understanding the figurative meaning of language. This study evaluates neural correlates of diminished humor comprehension observed in schizophrenia. The study included chronic schizophrenia (SCH) outpatients (n = 20), and sex, age and education level matched healthy controls (n = 20). The fMRI punchline based humor comprehension task consisted of 60 stories of which 20 had funny, 20 nonsensical and 20 neutral (not funny) punchlines. After the punchlines were presented, the participants were asked to indicate whether the story was comprehensible and how funny it was. Three contrasts were analyzed in both groups reflecting stages of humor processing: abstract vs neutral stories - incongruity detection; funny vs abstract - incongruity resolution and elaboration; and funny vs neutral - complete humor processing. Additionally, parametric modulation analysis was performed using both subjective ratings separately. Between-group comparisons revealed that the SCH subjects had attenuated activation in the right posterior superior temporal gyrus (BA 41) in case of irresolvable incongruity processing of nonsensical puns; in the left dorsomedial middle and superior frontal gyri (BA 8/9) in case of incongruity resolution and elaboration processing of funny puns; and in the interhemispheric dorsal anterior cingulate cortex (BA 24) in case of complete processing of funny puns. Additionally, during comprehensibility ratings the SCH group showed a suppressed activity in the left dorsomedial middle and superior frontal gyri (BA 8/9) and revealed weaker activation during funniness ratings in the left dorsal anterior cingulate cortex (BA 24). Interestingly, these differences in the SCH group were accompanied behaviorally by a protraction of time in both types of rating responses and by indicating funny punchlines less comprehensible. Summarizing, our results indicate neural substrates of humor comprehension processing

  6. The 3R study strategy to improve text retention and text comprehension

    NARCIS (Netherlands)

    Reijners, Pauline; Kester, Liesbeth; Wetzels, Sandra; Kirschner, Paul A.

    2013-01-01

    Reijners, P. B. G., Kester, L., Wetzels, S. A. J., & Kirschner, P. A. (2013, 27 August). The 3R study strategy to improve text retention and text comprehension. In B. Klein (Chair), Effective Learning Strategies and their Usage in Self-regulated Training Programs and Computer-Based Learning.

  7. A Cross-Sectional Study of Fluency and Reading Comprehension in Spanish Primary School Children

    Science.gov (United States)

    Calet, Nuria; Gutiérrez-Palma, Nicolás; Defior, Sylvia

    2015-01-01

    The importance of prosodic elements is recognised in most definitions of fluency. Although speed and accuracy have been typically considered the constituents of reading fluency, prosody is emerging as an additional component. The relevance of prosody in comprehension is increasingly recognised in the latest studies. The purpose of this research is…

  8. Evidence for bilateral involvement in idiom comprehension : An fMRI study

    NARCIS (Netherlands)

    Zempleni, Monika-Zita; Haverkort, Marco; Renken, Remco; Stowe, Laurie A.

    2007-01-01

    The goal of the current study was to identify the neural substrate of idiom comprehension using fMRI. Idioms are familiar, fixed expressions whose meaning is not dependent on the literal interpretation of the component words. We presented literally plausible idioms in a sentence forcing a figurative

  9. The Effects of Using Advance Organizers on Improving EFL Learners' Listening Comprehension: A Mixed Method Study

    Science.gov (United States)

    Jafari, Khadijeh; Hashim, Fatimah

    2012-01-01

    This study investigated the effects of using two types of written advance organizers, key sentences and key vocabulary, on the improvement of EFL learners' listening comprehension. 108 second year university students at the higher and lower listening proficiency levels were randomly assigned to one control group and two experimental groups. Prior…

  10. Metaphor Comprehension in Autistic Spectrum Disorders: Case Studies of Two High-Functioning Children

    Science.gov (United States)

    Melogno, Sergio; D'Ardia, Caterina; Pinto, Maria Antonietta; Levi, Gabriel

    2012-01-01

    This article presents case studies on metaphor comprehension in two boys with high-functioning autistic spectrum disorder, aged 9;1 (9 years, 1 month) and 8;11. The participants were assessed twice, before and after an intervention program aimed at improving their social skills. The focus of the article is on the specific patterns exhibited by…

  11. Case Study of an Institutionalized Urban Comprehensive School Physical Activity Program

    Science.gov (United States)

    Doolittle, Sarah A.; Rukavina, Paul B.

    2014-01-01

    This single case study (Yin, 2009) compares an established urban physical education/ sport/physical activity program with two models: Comprehensive School Physical Activity Program/CSPAP (AAHPERD, 2013; CDC, 2013); and Lawson's propositions (2005) for sport, exercise and physical education for empowerment and community development to determine…

  12. The Effects of CLIL on Oral Comprehension and Production: A Longitudinal Case Study

    Science.gov (United States)

    Pérez Cañado, María Luisa; Lancaster, Nina Karen

    2017-01-01

    This article reports on the outcomes of a longitudinal case study to gauge the impact of content and language integrated learning (CLIL) on two of the least researched language skills: oral comprehension and production. It worked with 24 students in the fourth grade of Compulsory Secondary Education in a public school in Andalusia (southern Spain)…

  13. A Study of Reading Comprehension in Older Children Using Selected Korean Bible Translations

    Science.gov (United States)

    Kim, Jae Woo

    2014-01-01

    Problem: The problem of this study was to determine the difference in Bible comprehension scores among gender-based groups of older children using selected passages from three Bible translations: the Children's Bible, the Easy Bible, and the New Revised Korean Bible. Procedures: A total of 288 older children in three churches (Beautiful Baptist…

  14. Comprehensive Environmental Assessment and U.S. EPA Nanomaterial Case Studies

    Science.gov (United States)

    These case studies are not completed risk assessments but are structured around an approach known as comprehensive environmental assessment (CEA), which combines a product life cycle framework with the risk assessment paradigm (Davis, J.M., J. Nanosci. Nanotech. 7:402-9, 2007). ...

  15. A Comprehensive HIV Stigma-reduction and Wellness-enhancement Community Intervention: A Case Study.

    NARCIS (Netherlands)

    French, H.; Greeff, M.; Watson, M.J.; Doak, C.M.

    2014-01-01

    We describe the implementation of a comprehensive HIV stigma-reduction and wellness-enhancement community intervention that focused on people living with HIV (PLWH), as well as people living close to them (PLC) from six designated groups. A holistic multiple case study design was used in urban and

  16. Comprehensive Adult Student Assessment Systems Braille Reading Assessment: An Exploratory Study

    Science.gov (United States)

    Posey, Virginia K.; Henderson, Barbara W.

    2012-01-01

    Introduction: This exploratory study determined whether transcribing selected test items on an adult life and work skills reading test into braille could maintain the same approximate scale-score range and maintain fitness within the item response theory model as used by the Comprehensive Adult Student Assessment Systems (CASAS) for developing…

  17. Deaf Education Teacher Preparation: A Phenomenological Case Study of a Graduate Program with a Comprehensive Philosophy

    Science.gov (United States)

    Engler, Karen S.; MacGregor, Cynthia J.

    2018-01-01

    At a time when deaf education teacher preparation programs are declining in number, little is known about their actual effectiveness. A phenomenological case study of a graduate-level comprehensive deaf education teacher preparation program at a midwestern university explored empowered and enabled learning of teacher candidates using the Missouri…

  18. Supporting nanomaterial risk assessment by case studies of nano-titanium dioxide using comprehensive environmental assessment

    Science.gov (United States)

    Here we describe a comprehensive environmental assessment (CEA) approach for two case studies of nano-titanium dioxide (nano-TiO2) in real world applications: water treatment and sunscreen. CEA combines a product life cycle framework with the risk assessment paradigm.

  19. WONOEP appraisal: new genetic approaches to study epilepsy

    Science.gov (United States)

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  20. Correlates of lower comprehension of informed consent among participants enrolled in a cohort study in Pune, India.

    Science.gov (United States)

    Joglekar, Neelam S; Deshpande, Swapna S; Sahay, Seema; Ghate, Manisha V; Bollinger, Robert C; Mehendale, Sanjay M

    2013-03-01

    Optimum comprehension of informed consent by research participants is essential yet challenging. This study explored correlates of lower comprehension of informed consent among 1334 participants of a cohort study aimed at estimating HIV incidence in Pune, India. As part of the informed consent process, a structured comprehension tool was administered to study participants. Participants scoring ≥90% were categorised into the 'optimal comprehension group', whilst those scoring 80-89% were categorised into the 'lower comprehension group'. Data were analysed to identify sociodemographic and behavioural correlates of lower consent comprehension. The mean ± SD comprehension score was 94.4 ± 5.00%. Information pertaining to study-related risks was not comprehended by 61.7% of participants. HIV-negative men (adjusted OR [AOR] = 4.36, 95% CI 1.71-11.05) or HIV-negative women (AOR = 13.54, 95% CI 6.42-28.55), illiteracy (AOR= 1.65, 95% CI 1.19-2.30), those with a history of multiple partners (AOR = 1.73, 95% CI 1.12-2.66) and those never using condoms (AOR = 1.35, 95% CI 1.01-1.82) were more likely to have lower consent comprehension. We recommend exploration of domains of lower consent comprehension using a validated consent comprehension tool. Improved education in these specific domains would optimise consent comprehension among research participants.

  1. Draft genome of the medaka fish: a comprehensive resource for medaka developmental genetics and vertebrate evolutionary biology.

    Science.gov (United States)

    Takeda, Hiroyuki

    2008-06-01

    The medaka Oryzias latipes is a small egg-laying freshwater teleost, and has become an excellent model system for developmental genetics and evolutionary biology. The medaka genome is relatively small in size, approximately 800 Mb, and the genome sequencing project was recently completed by Japanese research groups, providing a high-quality draft genome sequence of the inbred Hd-rR strain of medaka. In this review, I present an overview of the medaka genome project including genome resources, followed by specific findings obtained with the medaka draft genome. In particular, I focus on the analysis that was done by taking advantage of the medaka system, such as the sex chromosome differentiation and the regional history of medaka species using single nucleotide polymorphisms as genomic markers.

  2. Study books on ADHD genetics : balanced or biased?

    NARCIS (Netherlands)

    te Meerman, Sanne; Batstra, Laura; Hoekstra, Rink; Grietens, Hans

    2017-01-01

    Academic study books are essential assets for disseminating knowledge about ADHD to future healthcare professionals. This study examined if they are balanced with regard to genetics. We selected and analyzed study books (N=43) used in (pre) master's programmes at 10 universities in the Netherlands.

  3. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  4. A study of the international trend and comprehensive enhancement program on the Nuclear Power Plant safety

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Soon Hong; Cho, Nam Jin; Paek, Won Phil [Korea Advanced Institute of Science and Technology, Taejon (Korea, Republic of)

    1990-12-15

    The objectives of this study are as follows : overview of the international trend related to the safety of Nuclear Power Plant(NPPs), study of the present status of NPP safety in Korea in aspects of design, construction and operation, suggestion of the comprehensive program to improve NPP safety in Korea. The results of this study can contribute to improve the safety of existing and future NPPs, and to establish the severe accident policy in Korea.

  5. A study of the international trend and comprehensive enhancement program on the Nuclear Power Plant safety

    International Nuclear Information System (INIS)

    Jang, Soon Hong; Cho, Nam Jin; Paek, Won Phil

    1990-12-01

    The objectives of this study are as follows : overview of the international trend related to the safety of Nuclear Power Plant(NPPs), study of the present status of NPP safety in Korea in aspects of design, construction and operation, suggestion of the comprehensive program to improve NPP safety in Korea. The results of this study can contribute to improve the safety of existing and future NPPs, and to establish the severe accident policy in Korea

  6. Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridization reduce multiple gestation rate by single fresh blastocyst transfer?

    Science.gov (United States)

    Sills, Eric Scott; Yang, Zhihong; Walsh, David J; Salem, Shala A

    2012-09-01

    The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method. Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach. Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice. As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also

  7. The Effect of the Cherry Hill Study Skills Program on Eighth Grade Students' Reading Comprehension and Study Skills.

    Science.gov (United States)

    La Marca, Marilyn Tierney

    A study was conducted to determine the effects of the "Cherry Hill Study Skills Program" on eighth grade students' reading comprehension and study skills. The "Cherry Hill Study Skills Program" is a process oriented course dealing with the sequential development of nine specific skills deemed essential to the retrieval and retention of information…

  8. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  9. Genetic studies on two soybean cultivars irradiated with gamma rays

    International Nuclear Information System (INIS)

    El-Demerdash, H.M.

    2007-01-01

    In the present study, the effect of gamma irradiation was used in two Egyptian soybean cultivars; Giza-22 and Giza-82, to induce genetic variability with doses of 100, 150 and 200 Gy. Some agronomic characters were tested in M1 and M2 generations single plants. Oil and protein contents were measured from the resulted mutants of the two soybean cultivars at M2 generation. Some genetic parameters were estimated on the mean values of M2 generation. The results showed significant differences induced by gamma ray doses in all studied characters, particularly for 200 Gy in M1 generation. Gamma irradiation increased the genetic variability in M2 generation, which helped in selecting some high yielding mutants and some mutants with high oil and protein contents from the two cultivars. The estimated coefficients of phenotypic variance as well as coefficient of genotypic variance were high for seeds weight/plant, pod weight/plant, number of seeds/plant, number of pods/plant and number of nods/plant which showed better scope in genetic improvement. Heritability in the broad sense was high in most of the studied characters. The expected genetic advance (G.A) from selection was high for number of seeds, for number of pods, for pods weight and for mature plant height

  10. The Comprehension of Familiar and Novel Metaphoric Meanings in Schizophrenia: A Pilot Study

    Science.gov (United States)

    Rapp, Alexander M.; Felsenheimer, Anne K.; Langohr, Karin; Klupp, Magdalena

    2018-01-01

    Miscomprehension of nonliteral (“figurative”) language like metaphors, proverbs, idioms, and ironic expressions by patients with schizophrenia is a phenomenon mentioned already in historical psychiatric descriptions. However, it was only recently that studies did differentiate between novel and conventional metaphors, a factor that is known to influence the difficulty of comprehension in healthy subjects. Further, familiarity with stimuli is an important factor for comprehension, which was not recommended in utmost previous studies. In this study, 23 patients with DSM IV schizophrenia and 19 healthy control subjects performed a newly-developed German metaphor comprehension test with three types of stimuli: novel metaphors, conventional German metaphors, and meaningless statements. During the test procedure, participants indicated familiarity with the stimulus and then matched the meaning with one out of four given alternatives. Familiarity rankings did not significantly differ between patients and control subjects. However, on descriptive level, there was a tendency for healthy controls to be more familiar with conventional metaphors than schizophrenic patients. Further, comprehension of conventional and novel metaphors differed significantly between the groups, with higher performance in healthy controls. Considering only those metaphors that had been ranked as familiar, patients only revealed significant lower performance opposed to controls regarding novel metaphors, while they did not differ in conventional metaphors. Taken together, the results indicate that patients with schizophrenia might show an altered way of comprehension in novel metaphors, leading to more misunderstandings. However, their previously reported impairments in conventional metaphors might rather be due to a lack of familiarity with the stimuli—making conventional metaphors to novel metaphors in the individual case. PMID:29354082

  11. The Comprehension of Familiar and Novel Metaphoric Meanings in Schizophrenia: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Alexander M. Rapp

    2018-01-01

    Full Text Available Miscomprehension of nonliteral (“figurative” language like metaphors, proverbs, idioms, and ironic expressions by patients with schizophrenia is a phenomenon mentioned already in historical psychiatric descriptions. However, it was only recently that studies did differentiate between novel and conventional metaphors, a factor that is known to influence the difficulty of comprehension in healthy subjects. Further, familiarity with stimuli is an important factor for comprehension, which was not recommended in utmost previous studies. In this study, 23 patients with DSM IV schizophrenia and 19 healthy control subjects performed a newly-developed German metaphor comprehension test with three types of stimuli: novel metaphors, conventional German metaphors, and meaningless statements. During the test procedure, participants indicated familiarity with the stimulus and then matched the meaning with one out of four given alternatives. Familiarity rankings did not significantly differ between patients and control subjects. However, on descriptive level, there was a tendency for healthy controls to be more familiar with conventional metaphors than schizophrenic patients. Further, comprehension of conventional and novel metaphors differed significantly between the groups, with higher performance in healthy controls. Considering only those metaphors that had been ranked as familiar, patients only revealed significant lower performance opposed to controls regarding novel metaphors, while they did not differ in conventional metaphors. Taken together, the results indicate that patients with schizophrenia might show an altered way of comprehension in novel metaphors, leading to more misunderstandings. However, their previously reported impairments in conventional metaphors might rather be due to a lack of familiarity with the stimuli—making conventional metaphors to novel metaphors in the individual case.

  12. Advances in molecular genetic studies of primary dystonia

    Directory of Open Access Journals (Sweden)

    MA Ling-yan

    2013-07-01

    Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

  13. Genetic Epidemiological Studies of Multiple Sclerose

    NARCIS (Netherlands)

    I.A. Hoppenbrouwers (Ilse)

    2011-01-01

    textabstractThe objective of this thesis was to find new risk alleles for MS. This may finally result in a better understanding of the pathogenesis of MS. Knowledge of MS disease pathways can direct strategies for prevention, diagnosis and therapy. In our study, we included MS patients from a

  14. Narrative comprehension and production in children with SLI: An eye movement study

    Science.gov (United States)

    ANDREU, LLORENÇ; SANZ-TORRENT, MONICA; OLMOS, JOAN GUÀRDIA; MACWHINNEY, BRIAN

    2014-01-01

    This study investigates narrative comprehension and production in children with specific language impairment (SLI). Twelve children with SLI (mean age 5; 8 years) and 12 typically developing children (mean age 5; 6 years) participated in an eye-tracking experiment designed to investigate online narrative comprehension and production in Catalan- and Spanish-speaking children with SLI. The comprehension task involved the recording of eye movements during the visual exploration of successive scenes in a story, while listening to the associated narrative. With regard to production, the children were asked to retell the story, while once again looking at the scenes, as their eye movements were monitored. During narrative production, children with SLI look at the most semantically relevant areas of the scenes fewer times than their age-matched controls, but no differences were found in narrative comprehension. Moreover, the analyses of speech productions revealed that children with SLI retained less information and made more semantic and syntactic errors during retelling. Implications for theories that characterize SLI are discussed. PMID:21453036

  15. An Exploratory Study of Reading Comprehension in College Students After Acquired Brain Injury.

    Science.gov (United States)

    Sohlberg, McKay Moore; Griffiths, Gina G; Fickas, Stephen

    2015-08-01

    This exploratory study builds on the small body of existing research investigating reading comprehension deficits in college students with acquired brain injury (ABI). Twenty-four community college students with ABI completed a battery of questionnaires and standardized tests to characterize self-perceptions of academic reading ability, performance on a standardized reading comprehension measure, and a variety of cognitive functions of this population. Half of the participants in the sample reported traumatic brain injury (n = 12) and half reported nontraumatic ABI (n = 12). College students with both traumatic and nontraumatic ABI cite problems with reading comprehension and academic performance postinjury. Mean performance on a standardized reading measure, the Nelson-Denny Reading Test (Brown, Fischo, & Hanna, 1993), was low to below average and was significantly correlated with performance on the Speed and Capacity of Language Processing Test (Baddeley, Emslie, & Nimmo-Smith, 1992). Injury status of traumatic versus nontraumatic ABI did not differentiate results. Regression analysis showed that measures of verbal attention and suppression obtained from the California Verbal Language Test-II (Delis, Kramer, Kaplan, & Ober, 2000) predicted total scores on the Nelson-Denny Reading Test. College students with ABI are vulnerable to reading comprehension problems. Results align with other research suggesting that verbal attention and suppression problems may be contributing factors.

  16. A Study on improvement of comprehensive environmental management system - activation of liberalized environmental management

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Hweu Sung; Kang, Chul Goo [Korea Environment Institute, Seoul (Korea)

    1998-12-01

    As a part of improvement on a comprehensive environmental management system, this study was attempted to find an activating policy for a liberalized environmental management. This study provided an activation plan of reasonable environmental regulation reform and liberalized environmental management through the analysis of foreign examples and domestic situation. Furthermore, it analyzed an institutional mechanism for a smooth operation of liberalized environmental management. 68 refs., 5 figs., 51 tabs.

  17. Genetic and ecological studies of animals in Chernobyl and Fukushima.

    Science.gov (United States)

    Mousseau, Timothy A; Møller, Anders P

    2014-01-01

    Recent advances in genetic and ecological studies of wild animal populations in Chernobyl and Fukushima have demonstrated significant genetic, physiological, developmental, and fitness effects stemming from exposure to radioactive contaminants. The few genetic studies that have been conducted in Chernobyl generally show elevated rates of genetic damage and mutation rates. All major taxonomic groups investigated (i.e., birds, bees, butterflies, grasshoppers, dragonflies, spiders, mammals) displayed reduced population sizes in highly radioactive parts of the Chernobyl Exclusion Zone. In Fukushima, population censuses of birds, butterflies, and cicadas suggested that abundances were negatively impacted by exposure to radioactive contaminants, while other groups (e.g., dragonflies, grasshoppers, bees, spiders) showed no significant declines, at least during the first summer following the disaster. Insufficient information exists for groups other than insects and birds to assess effects on life history at this time. The differences observed between Fukushima and Chernobyl may reflect the different times of exposure and the significance of multigenerational mutation accumulation in Chernobyl compared to Fukushima. There was considerable variation among taxa in their apparent sensitivity to radiation and this reflects in part life history, physiology, behavior, and evolutionary history. Interestingly, for birds, population declines in Chernobyl can be predicted by historical mitochondrial DNA base-pair substitution rates that may reflect intrinsic DNA repair ability. © The American Genetic Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  18. Biochemical and genetic studies on cardiometabolic syndrome

    OpenAIRE

    Supriya Simon, A.; Dinesh Roy, D.; Jayapal, V.; Vijayakumar, T.

    2010-01-01

    Cardiometabolic syndrome is one of the major public health issues of this century which describes a cluster of clinical characteristics. Seventy two patients with coronary artery disease (CAD) and cardiometabolic syndrome and forty healthy age and sex matched normal controls were selected for this study. Detailed clinical epidemiological and anthropometric characteristics were noted. Lipid profile and Cytokinesis-block micronuclei (CBMN) assay using cytochalasin B were carried out in all the ...

  19. Genetic studies on dwarf triticale mutants

    International Nuclear Information System (INIS)

    Nalepa, S.

    1984-01-01

    The parents, F 1 , F 2 and backcrosses derived from triticale dwarf mutants and tall cultivars were studied during the 1979-80 crop season. Data was taken on individual plants to estimate dwarf inheritance, gene action and interrelationships of grain yield and selected yield related traits. The direct and indirect effects of grain yield per spike on other grain yield components were also studied. Results indicate that dwarfing is controlled by two, partially dominant, genes. Additional crosses involving other hexaploid triticale lines revealed the inheritance of other characters. The results in F 2 show that glossy plant, waxy covering of the neck and hairy neck are dominant, while short straw is recessive. Waxy covering on the spike seems to be controlled by two genes with additive action. Observation of F 2 progenies indicates that a gene for waxy neck covering Wx and hairy neck Hp might be located on the same chromosome at a distance of about 19 units. Plant height showed a positive phenotypic correlation with grain yield and 1,000 kernel weight. Non-significant correlations were found between plant height and number of grains per spike, harvest index and spikelet fertility. Path coefficient analyses at the phenotypic level indicated that the direct effects of grain number on grain yield were large while the direct effects of 1,000 kernel weight were relatively small. The results of this study indicate that selection for high kernel number is the most important factor in a breeding programme for increasing grain yield in some dwarf triticale. It was found that epistasis is not involved in the inheritance of harvest index. Additive, dominance and additive x dominance epistasis were important for grain yield per spike. A duplicate type of epistasis was found for 1,000 kernel weight and number of grains per spikelet. (author)

  20. Facts about food irradiation: Genetic studies

    International Nuclear Information System (INIS)

    1991-01-01

    Results published in the mid-1970s from the National Institute of Nutrition (NIN) in India showed increased numbers of polyploid cells in rats, mice, monkeys and malnourished children fed irradiated wheat products. This fact sheet considers the validity of these results. A large number of independent studies have been subsequently performed, and in none of these have results been obtained that support the NIN findings. The conclusion is that there is no evidence to link the consumption of irradiated food with any mutagenic effect. 3 refs

  1. Comprehensive Care

    Science.gov (United States)

    ... Comprehensive Care Share this page Facebook Twitter Email Comprehensive Care Understand the importance of comprehensive MS care ... In this article A complex disease requires a comprehensive approach Today multiple sclerosis (MS) is not a ...

  2. Characterizing Clinical Genetic Counselors' Countertransference Experiences: an Exploratory Study.

    Science.gov (United States)

    Reeder, Rebecca; Veach, Patricia McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S

    2017-10-01

    Countertransference (CT) refers to conscious and unconscious emotions, fantasies, behaviors, perceptions, and psychological defenses genetic counselors experience in response to any aspect of genetic counseling situations (Weil 2010). Some authors theorize about the importance of recognizing and managing CT, but no studies solely aim to explore genetic counselors' experiences of the phenomenon. This study examined the extent to which clinical genetic counselors' perceive themselves as inclined to experience CT, gathered examples of CT encountered in clinical situations, and assessed their CT management strategies. An anonymous online survey, sent to NSGC members, yielded 127 usable responses. Participants completed Likert-type items rating their CT propensities; 57 of these individuals also provided examples of CT they experienced in their practice. Factor analysis of CT propensities tentatively suggested four factors: Control, Conflict Avoidance, Directiveness, and Self-Regulation, accounting for 38.5% of response variance. Thematic analysis of CT examples yielded five common triggers: general similarity to patient, medical/genetic similarity, angry patients, patient behaves differently from counselor expectations, and disclosing bad news; six common manifestations: being self-focused, projecting feelings onto the patient, intense emotional reaction to patient, being overly invested, disengagement, and physical reaction; five CT effects: disruption in rapport building, repaired empathy, over-identification, conversation does not reach fullest potential, and counselor is drained emotionally; and three management strategies: recognizing CT as it occurs, self-reflection, and consultation. Results suggest CT is a common experience, occurring in both "routine" and emotionally complex cases. Training programs, continuing education, and peer supervision might include discussion of CT, informed by examples from the present study, to increase genetic counselor awareness

  3. Friendship Experiences and Anxiety Among Children: A Genetically Informed Study.

    Science.gov (United States)

    Poirier, Catherine Serra; Brendgen, Mara; Girard, Alain; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2016-01-01

    This study examined (a) whether, in line with a gene-environment correlation (rGE), a genetic disposition for anxiety puts children at risk of having anxious friends or having no reciprocal friends; (b) to what extent these friendship experiences are related to anxiety symptoms, when controlling for sex and genetic disposition for this trait; and (c) the additive and interactive predictive links of the reciprocal best friend's anxiety symptoms and of friendship quality with children's anxiety symptoms. Using a genetically informed design based on 521 monozygotic and ic twins (264 girls; 87% of European descent) assessed in Grade 4 (M age = 10.04 years, SD = .26), anxiety symptoms and perceived friendship quality were measured with self-report questionnaires. Results indicated that, in line with rGE, children with a strong genetic disposition for anxiety were more likely to have anxious friends than nonanxious friends. Moreover, controlling for their genetic risk for anxiety, children with anxious friends showed higher levels of anxiety symptoms than children with nonanxious friends but did not differ from those without reciprocal friends. Additional analyses suggested a possible contagion of anxiety symptoms between reciprocal best friends when perceived negative features of friendship were high. These results underline the importance of teaching strategies such as problem solving that enhance friendship quality to limit the potential social contagion of anxiety symptoms.

  4. [Population genetic study of Russian cosmonauts and test subjects: genetic demographic parameters and immunogenetic markers].

    Science.gov (United States)

    Kurbatova, O L; Pobedonostseva, E Iu; Prokhorovskaia, V D; Kholod, O N; Evsiukov, A N; Bogomolov, V V; Voronkov, Iu I; Filatova, L M; Larina, O N; Sidorenko, L A; Morgun, V V; Kasparanskiĭ, R R; Altukhov, Iu P

    2006-10-01

    Genetic demographic characteristics and immunogenetic markers (blood groups ABO, Rhesus, MNSs, P, Duffy, Kidd, and Kell) have been studied in a group of 132 Russian cosmonauts and test subjects (CTSG). Analysis of pedigrees has shown a high exogamy in the preceding generations: almost half of the subjects have mixed ethnic background. According to the results of genetic demographic analysis, a sample from the Moscow population was used as control group (CG). Comparison between the CTSG and CG has demonstrated significant differences in genotype frequencies for several blood group systems. The CTSG is characterized by a decreased proportion of rare interlocus genotypic combinations and an increased man heterozygosity. Analysis of the distributions of individual heterozygosity for loci with codominant expression of alleles has shown that highly heterozygous loci are more frequent in the CTSG. Taking into account that the CTSG has been thoroughly selected from the general population, it is concluded that heterozygosity is related to successful adaptation to a space flight.

  5. Disease-Concordant Twins Empower Genetic Association Studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size...

  6. Hamartomatous polyps - a clinical and molecular genetic study

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie

    2016-01-01

    the knowledge on clinical course and molecular genetics in patients with HPs and HPS, and to investigate research participants' attitude towards the results of extensive genetic testing. Paper I: In the first paper we investigated the occurrence, anatomic distribution, and other demographics of juvenile polyps...... appearance. Patients with one or a few juvenile polyps are usually not offered clinical follow-up as the polyp(s) are considered not to harbour any malignant potential. Nevertheless, it is important to note that juvenile polyps and HPs are also found in patients with hereditary hamartomatous polyposis......-Jeghers syndrome, and the PTEN hamartoma tumour syndrome. Currently, the HPS diagnoses are based on clinical criteria and are often assisted with genetic testing as candidate genes have been described for each syndrome. This thesis is based on six scientific papers. The overall aim of the studies was to expand...

  7. The role of action knowledge in the comprehension of artefacts - a PET study

    DEFF Research Database (Denmark)

    Gerlach, Christian; Law, Ian; Gade, Anders

    2002-01-01

    and two naming tasks divided by category (natural objects vs artefacts). The left PMv (BA 6/44) was more activated by the categorization task for artefacts than by the categorization task for natural objects and the naming task for artefacts. However, the left PMv was not associated with the contrast......Activation of the left ventral premotor cortex (PMv) has in previous imaging studies been associated with the processing of visually presented artefacts. It has been suggested that this activation reflects processing of action knowledge and that action knowledge contributes to the comprehension...... of artefacts. The purpose of the present study was to test whether activation of the left PMv is common for all tasks involving the comprehension of artefacts or whether it is task specific. This was done by comparing performance and regional cerebral blood flow (rCBF) associated with two categorization tasks...

  8. Molecular evaluation of genetic diversity and association studies in ...

    Indian Academy of Sciences (India)

    In the present study, we tested rice genotypes that included un(der)exploited landraces of Tamil Nadu along with indica and japonica test cultivars to ascertain their genetic diversity structure. Highly polymorphic microsatellite markers were used for generating marker segregation data. A novel measure, allele discrimination ...

  9. Studies on the Pathophysiology and Genetic Basis of Migraine

    Science.gov (United States)

    Gasparini, Claudia F; Sutherland, Heidi G.; Griffiths, Lyn R

    2013-01-01

    Migraine is a neurological disorder that affects the central nervous system causing painful attacks of headache. A genetic vulnerability and exposure to environmental triggers can influence the migraine phenotype. Migraine interferes in many facets of people’s daily life including employment commitments and their ability to look after their families resulting in a reduced quality of life. Identification of the biological processes that underlie this relatively common affliction has been difficult because migraine does not have any clearly identifiable pathology or structural lesion detectable by current medical technology. Theories to explain the symptoms of migraine have focused on the physiological mechanisms involved in the various phases of headache and include the vascular and neurogenic theories. In relation to migraine pathophysiology the trigeminovascular system and cortical spreading depression have also been implicated with supporting evidence from imaging studies and animal models. The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies. PMID:24403849

  10. non-genetic factors and correlation studies in cattle.

    African Journals Online (AJOL)

    Bivariate and multivariate analyses fitting an animal model, were conducted by means of (ASREML) ... aggregate genetic improvement in beef cattle is most ..... This trend was observed in the present study. .... effects hence the prediction of correlated responses to ... the shape of the growth curve as an animal can be.

  11. Genetic risk of rhegmatogenous retinal detachment: a familial aggregation study.

    NARCIS (Netherlands)

    Go, S.L.; Hoyng, C.B.; Klaver, C.C.W.

    2005-01-01

    OBJECTIVE: To investigate the magnitude of the genetic risk of nonsyndromic rhegmatogenous retinal detachments (RRDs) in a familial aggregation study. DESIGN: Two hundred three consecutive patients with RRD and 461 controls without RRD were ascertained at the Department of Ophthalmology of the

  12. Genetic risk of rhegmatogenous retinal detachment a familial aggregation study

    NARCIS (Netherlands)

    S.L. Go (Sioe Lie); C. Hoyng (Carel); C.C.W. Klaver (Caroline)

    2005-01-01

    textabstractObjective: To investigate the magnitude of the genetic risk of nonsyndromic rhegmatogenous retinal detachments (RRDs) in a familial aggregation study. Design: Two hundred three consecutive patients with RRD and 461 controls without RRD were ascertained at the Department of Ophthalmology

  13. Comparative study of genetic influence on the susceptibility of exotic ...

    African Journals Online (AJOL)

    This study investigated comparatively the genetic influence on the susceptibility of exotic cockerels, pullets and broilers to natural infection with infectious bursal disease (IBD) virus in a flock of 150 seven-week-old exotic breed of chickens comprising of 50 Black Harco cockerels, 50 Black Harco pullets and 50 White ...

  14. [Genetic and environmental contribution to rheumatoid arthritis: a family study].

    Science.gov (United States)

    Iebba, Filippo; Di Sora, Fiorella; Leti, Wilma; Montella, Tatiana; Montella, Francesco

    2012-01-01

    We report on the HLA typing of three brothers (A, B, C) with rheumatoid arthritis (RA) and their six sons. This family is interesting for the full concordance for RA between parents. The aim of this study was the discovery of genetic and/or enviromental cofactors determining this absolute concordance.

  15. Genetic diversity Study of Dioscoreas Using Morphological Traits ...

    African Journals Online (AJOL)

    Prof. Ogunji

    study. Onyilagha (1988) used polyacrylamide gel elctrophoresis on 13 cultivars of Dioscorea (5 of D.rotundata and 8 of D.cayenesis). The two taxa have some common morphological features, leading to .... g, potassium chloride = 0.725 g, ethylene ..... feasibility in broadening the genetic base for the improvement of yam.

  16. Cognitive Modules Utilized for Narrative Comprehension in Children: A Functional Magnetic Resonance Imaging Study

    OpenAIRE

    Schmithorst, Vincent J.; Holland, Scott K.; Plante, Elena

    2005-01-01

    The ability to comprehend narratives constitutes an important component of human development and experience. The neural correlates of auditory narrative comprehension in children were investigated in a large-scale functional magnetic resonance imaging (fMRI) study involving 313 subjects ages 5–18. Using group Independent Component Analysis (ICA), bilateral task-related components were found comprising the primary auditory cortex, the mid-superior temporal gyrus, the hippocampus, the angular g...

  17. Enhancing Social Studies Vocabulary and Comprehension for Seventh-Grade English Language Learners: Findings from Two Experimental Studies

    Science.gov (United States)

    Vaughn, Sharon; Martinez, Leticia R.; Linan-Thompson, Sylvia; Reutebuch, Colleen K.; Carlson, Coleen D.; Francis, David J.

    2009-01-01

    Two experimental studies to improve vocabulary knowledge and comprehension were conducted in 7th-grade social studies classes with English language learners (ELLs). Two different nonoverlapping samples of classes of 7th-grade students (N = 381 and N = 507) were randomly assigned at the classroom (i.e., section) level to a social studies…

  18. Integrated Comprehensive Care - A Case Study in Nursing Leadership and System Transformation.

    Science.gov (United States)

    Wheatley, Laura; Doyle, Winnie; Evans, Cheryl; Gosse, Carolyn; Smith, Kevin

    2017-01-01

    Calls for transformational change of our healthcare system are increasingly clear, persuasive and insistent. They resonate at all levels, with those who fund, deliver, provide and receive care, and they are rooted in a deep understanding that the system, as currently rigidly structured, most often lacks the necessary flexibility to comprehensively meet the needs of patients across the continuum of care. The St. Joseph's Health System (SJHS) Integrated Comprehensive Care (ICC) Program, which bundles care and funding across the hospital to home continuum, has reduced fragmentation of care, and it has delivered improved outcomes for patients, providers and the system. This case study explores the essential contribution of nursing leadership to this successful transformation of healthcare service delivery.

  19. Pedagogical Practices in Teaching Reading Comprehension: A Case Study of Three EFL Teachers in a Secondary School in Ethiopia

    Science.gov (United States)

    Nurie, Yenus

    2017-01-01

    Various studies investigating psychological variables associated with reading comprehension are currently available. However, there has been little linguistic research conducted to examine the pedagogical practices of teachers in teaching reading comprehension of EFL Secondary Schools, Ethiopia. The present study was conducted to fill the research…

  20. Pitfalls in setting up genetic studies on preeclampsia.

    Science.gov (United States)

    Laivuori, Hannele

    2013-04-01

    This presentation will consider approaches to discover susceptibility genes for a complex genetic disorder such as preeclampsia. The clinical disease presumably results from the additive effects of multiple sequence variants from the mother and the foetus together with environmental factors. Disease heterogeneity and underpowered study designs are likely to be behind non-reproducible results in candidate gene association studies. To avoid spurious findings, sample size and characteristics of the study populations as well as replication studies in an independent study population should be an essential part of a study design. In family-based linkage studies relationship with genotype and phenotype may be modified by a variety of factors. The large number of families needed in discovering genetic variants with modest effect sizes is difficult to attain. Moreover, the identification of underlying mutations has proven difficult. When pooling data or performing meta-analyses from different populations, disease and locus heterogeneity may become a major issue. First genome-wide association studies (GWAS) have identified risk loci for preeclampsia. Adequately powered replication studies are critical in order to replicate the initial GWAS findings. This approach requires rigorous multiple testing correction. The expected effect sizes of individual sequence variants on preeclampsia are small, but this approach is likely to decipher new clues to the pathogenesis. The rare variants, gene-gene and gene-environmental interactions as well as noncoding genetic variations and epigenetics are expected to explain the missing heritability. Next-generation sequencing technologies will make large amount of data on genomes and transcriptomes available. Complexity of the data poses a challenge. Different depths of coverage might be chosen depending on the design of the study, and validation of the results by different methods is mandatory. In order to minimize disease heterogeneity in

  1. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

    Science.gov (United States)

    Feliubadaló, Lídia; Lopez-Doriga, Adriana; Castellsagué, Ester; del Valle, Jesús; Menéndez, Mireia; Tornero, Eva; Montes, Eva; Cuesta, Raquel; Gómez, Carolina; Campos, Olga; Pineda, Marta; González, Sara; Moreno, Victor; Brunet, Joan; Blanco, Ignacio; Serra, Eduard; Capellá, Gabriel; Lázaro, Conxi

    2013-01-01

    Next-generation sequencing (NGS) is changing genetic diagnosis due to its huge sequencing capacity and cost-effectiveness. The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2. A NGS-based workflow was designed using BRCA MASTR kit amplicon libraries followed by GS Junior pyrosequencing. Data analysis combined Variant Identification Pipeline freely available software and ad hoc R scripts, including a cascade of filters to generate coverage and variant calling reports. A BRCA homopolymer assay was performed in parallel. A research scheme was designed in two parts. A Training Set of 28 DNA samples containing 23 unique pathogenic mutations and 213 other variants (33 unique) was used. The workflow was validated in a set of 14 samples from HBOCS families in parallel with the current diagnostic workflow (Validation Set). The NGS-based workflow developed permitted the identification of all pathogenic mutations and genetic variants, including those located in or close to homopolymers. The use of NGS for detecting copy-number alterations was also investigated. The workflow meets the sensitivity and specificity requirements for the genetic diagnosis of HBOCS and improves on the cost-effectiveness of current approaches. PMID:23249957

  2. The Impact of Gloss Types on Reading Comprehension, Vocabulary Gain and Vocabulary Retention: A Comparative Study

    Directory of Open Access Journals (Sweden)

    Atefeh Elekaei

    2015-09-01

    Full Text Available The significance and impact of vocabulary learning in reading comprehension and L2 language learning are apparent to teachers, researchers and language learners. Moreover, glosses are found as one of the most effective strategies regarding vocabulary retention. Therefore, the present study attempted to investigate the effect of different types of glosses on reading comprehension, vocabulary gain and vocabulary retention. To this end, 140 Iranian EFL learners learning English were selected and were divided into four groups (footnote gloss group, interlinear gloss group, marginal gloss group, and glossary group. They were required to read a text and answer four reading comprehension questions. In addition, one immediate vocabulary post-test and one delayed vocabulary post-test were taken in order to investigate learners' vocabulary gain and vocabulary retention. In order to analyze the data, one one-way ANOVA and one MANOVA were run. The results of one-way ANOVA revealed that participants who received interlinear glosses significantly outperformed the other groups regarding comprehending the text. Moreover, the immediate vocabulary post-test was conducted immediately after reading test and the delayed post-test was administered after four weeks. The results of MANOVA indicated that the group which received interlinear glosses outperformed the other groups in both vocabulary gain and vocabulary retention. The present study has implications for teachers and learners. Teachers can find better methods to teach new reading passages as well as vocabulary items. Also, glosses help learners to have a better comprehension of difficult passages and they facilitate learning. Moreover, learners can enhance their vocabulary knowledge with the help of glosses.

  3. Comprehensive cooling water study annual report. Volume II: introduction and site description, Savannah River Plant

    International Nuclear Information System (INIS)

    Gladden, J.B.; Lower, M.W.; Mackey, H.E.; Specht, W.L.; Wilde, E.W.

    1985-07-01

    The Comprehensive Cooling Water Study was initiated in 1983 to evaluate the environmental effecs of the intake and release of cooling water on the structure and function of aquatic ecosystems at the Savannah River Plant. This report presents the results from the first year of the two year study and also summarizes results from previous studies on aquatic ecosystems of the Savannah River Plant. Five major program elements are addressed: water quality, radionuclide and heavy metal transport, wetlands ecology, aquatic ecology, and endangered species. 63 refs., 13 figs., 7 tabs

  4. BREEDING AND GENETICS SYMPOSIUM: Resilience and lessons from studies in genetics of heat stress.

    Science.gov (United States)

    Misztal, I

    2017-04-01

    Production environments are expected to change, mostly to a hotter climate but also possibly more extreme and drier. Can the current generation of farm animals cope with the changes or should it be specifically selected for changing conditions? In general, genetic selection produces animals with a smaller environmental footprint but also with smaller environmental flexibility. Some answers are coming from heat-stress research across species, with heat tolerance partly understood as a greater environmental flexibility. Specific studies in various species show the complexities of defining and selecting for heat tolerance. In Holsteins, the genetic component for effect of heat stress on production approximately doubles in second and quadruples in third parity. Cows with elevated body temperature have the greatest production under heat stress but probably are at risk for increased mortality. In hot but less intensive environments, the effect of heat stress on production is minimal, although the negative effect on fertility remains. Mortality peaks under heat stress and increases with parity. In Angus, the effect of heat stress is stronger only in selected regions, probably because of adaptation of calving seasons to local conditions and crossbreeding. Genetically, the direct effect shows variability because of heat stress, but the maternal effect does not, probably because dams shield calves from environmental challenges. In pigs, the effect of heat stress is strong for commercial farms but almost nothing for nucleus farms, which have lower pig density and better heat abatement. Under intensive management, heat stress is less evident in drier environments because of more efficient cooling. A genetic component of heat stress exists, but it is partly masked by improving management and selection based on data from elite farms. Genetic selection may provide superior identification of heat-tolerant animals, but a few cycles may be needed for clear results. Also, simple

  5. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

    Directory of Open Access Journals (Sweden)

    van der Vleuten Cees

    2011-02-01

    Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

  6. Syntactic comprehension in reading and listening: a study with French children with dyslexia.

    Science.gov (United States)

    Casalis, Séverine; Leuwers, Christel; Hilton, Heather

    2013-01-01

    This study examined syntactic comprehension in French children with dyslexia in both listening and reading. In the first syntactic comprehension task, a partial version of the Epreuve de Compréhension syntaxico-sémantique (ECOSSE test; French adaptation of Bishop's test for receptive grammar test) children with dyslexia performed at a lower level in the written but not in the spoken modality, compared to reading age-matched children, suggesting a difficulty in handling syntax while reading. In the second task, syntactic processing was further explored through a test of relative clause processing, in which inflectional markers could aid in attributing roles to the elements in a complex syntactic structure. Children with dyslexia were insensitive to inflectional markers in both reading and listening, as was the reading age control group, while only the older normal reader group appeared to make use of the inflectional markers. Overall, the results support the hypothesis that difficulties in comprehension in dyslexia are strongly related to poor reading skills.

  7. Creating a comprehensive customer service program to help convey critical and acute results of radiology studies.

    Science.gov (United States)

    Towbin, Alexander J; Hall, Seth; Moskovitz, Jay; Johnson, Neil D; Donnelly, Lane F

    2011-01-01

    Communication of acute or critical results between the radiology department and referring clinicians has been a deficiency of many radiology departments. The failure to perform or document these communications can lead to poor patient care, patient safety issues, medical-legal issues, and complaints from referring clinicians. To mitigate these factors, a communication and documentation tool was created and incorporated into our departmental customer service program. This article will describe the implementation of a comprehensive customer service program in a hospital-based radiology department. A comprehensive customer service program was created in the radiology department. Customer service representatives were hired to answer the telephone calls to the radiology reading rooms and to help convey radiology results. The radiologists, referring clinicians, and customer service representatives were then linked via a novel workflow management system. This workflow management system provided tools to help facilitate the communication needs of each group. The number of studies with results conveyed was recorded from the implementation of the workflow management system. Between the implementation of the workflow management system on August 1, 2005, and June 1, 2009, 116,844 radiology results were conveyed to the referring clinicians and documented in the system. This accounts for more than 14% of the 828,516 radiology cases performed in this time frame. We have been successful in creating a comprehensive customer service program to convey and document communication of radiology results. This program has been widely used by the ordering clinicians as well as radiologists since its inception.

  8. Sequential Coherence in Sentence Pairs Enhances Imagery during Comprehension: An Individual Differences Study.

    Directory of Open Access Journals (Sweden)

    Carol Madden-Lombardi

    Full Text Available The present study investigates how sequential coherence in sentence pairs (events in sequence vs. unrelated events affects the perceived ability to form a mental image of the sentences for both auditory and visual presentations. In addition, we investigated how the ease of event imagery affected online comprehension (word reading times in the case of sequentially coherent and incoherent sentence pairs. Two groups of comprehenders were identified based on their self-reported ability to form vivid mental images of described events. Imageability ratings were higher and faster for pairs of sentences that described events in coherent sequences rather than non-sequential events, especially for high imagers. Furthermore, reading times on individual words suggested different comprehension patterns with respect to sequence coherence for the two groups of imagers, with high imagers activating richer mental images earlier than low imagers. The present results offer a novel link between research on imagery and discourse coherence, with specific contributions to our understanding of comprehension patterns for high and low imagers.

  9. Enhancing Social Studies Vocabulary and Comprehension for 7th Grade English Language Learners: Findings from Two Experimental Studies

    Science.gov (United States)

    Vaughn, Sharon; Martinez, Leticia R.; Reutebuch, Colleen K.; Carlson, Coleen D.; Thompson, Sylvia L.; Franci, David J.

    2010-01-01

    The authors identified instructional practices associated with improved outcomes for English language learners (ELLs): (1) research-based vocabulary and concept instruction, (2) the use of media to build comprehension and concept knowledge, (3) the use of graphic organizers, and (4) structured peer-pairings. The purpose of our two studies was to…

  10. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH.

    Directory of Open Access Journals (Sweden)

    Shin Hayashi

    Full Text Available The CASK gene (Xp11.4 is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH, especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES. In total, we identified causative or candidate genomic aberrations in 37 of the 41 cases (90.2%. CASK aberrations including a rare mosaic mutation in a male patient, were found in 32 cases, and a mutation in ITPR1, another known gene in which mutations are causative for MICPCH, was found in one case. We also found aberrations involving genes other than CASK, such as HDAC2, MARCKS, and possibly HS3ST5, which may be associated with MICPCH. Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH. Our results not only identified the etiology of MICPCH in nearly all the investigated patients but also suggest that MICPCH is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of cases.

  11. Multivariate Methods for Meta-Analysis of Genetic Association Studies.

    Science.gov (United States)

    Dimou, Niki L; Pantavou, Katerina G; Braliou, Georgia G; Bagos, Pantelis G

    2018-01-01

    Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a unified framework methods for multivariate meta-analysis of genetic association studies and genome-wide association studies. Starting with the statistical methods used for robust analysis and genetic model selection, we present in brief univariate methods for meta-analysis and we then scrutinize multivariate methodologies. Multivariate models of meta-analysis for a single gene-disease association studies, including models for haplotype association studies, multiple linked polymorphisms and multiple outcomes are discussed. The popular Mendelian randomization approach and special cases of meta-analysis addressing issues such as the assumption of the mode of inheritance, deviation from Hardy-Weinberg Equilibrium and gene-environment interactions are also presented. All available methods are enriched with practical applications and methodologies that could be developed in the future are discussed. Links for all available software implementing multivariate meta-analysis methods are also provided.

  12. Genetic studies of the Roma (Gypsies: a review

    Directory of Open Access Journals (Sweden)

    Gresham David

    2001-04-01

    Full Text Available Abstract Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

  13. The Congenital Heart Disease Genetic Network Study: Cohort description.

    Directory of Open Access Journals (Sweden)

    Thanh T Hoang

    Full Text Available The Pediatric Cardiac Genomics Consortium (PCGC designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome. Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727 and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40% or left ventricular outflow tract obstruction (21%. Across CHD types, there were significant differences (p<0.05 in the distribution of all four case characteristics (e.g., sex, four parental characteristics (e.g., maternal pregestational diabetes, and five neurodevelopmental outcomes (e.g., learning disabilities. Several characteristics (e.g., sex were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.

  14. The Listening Comprehension Strategies Used by College Students to Cope with the Aural Problems in EFL Classes: An Analytical Study

    Science.gov (United States)

    Ghoneim, Nahed Mohamed Mahmoud

    2013-01-01

    The current study focused on the problems which students encounter while listening to the English language, the mental processes they activate in listening comprehension, and the strategies they use in different phases of comprehension. Also, it aimed to find out whether there were any differences between advanced and intermediate students in…

  15. Important considerations in lesion-symptom mapping: Illustrations from studies of word comprehension.

    Science.gov (United States)

    Shahid, Hinna; Sebastian, Rajani; Schnur, Tatiana T; Hanayik, Taylor; Wright, Amy; Tippett, Donna C; Fridriksson, Julius; Rorden, Chris; Hillis, Argye E

    2017-06-01

    Lesion-symptom mapping is an important method of identifying networks of brain regions critical for functions. However, results might be influenced substantially by the imaging modality and timing of assessment. We tested the hypothesis that brain regions found to be associated with acute language deficits depend on (1) timing of behavioral measurement, (2) imaging sequences utilized to define the "lesion" (structural abnormality only or structural plus perfusion abnormality), and (3) power of the study. We studied 191 individuals with acute left hemisphere stroke with MRI and language testing to identify areas critical for spoken word comprehension. We use the data from this study to examine the potential impact of these three variables on lesion-symptom mapping. We found that only the combination of structural and perfusion imaging within 48 h of onset identified areas where more abnormal voxels was associated with more severe acute deficits, after controlling for lesion volume and multiple comparisons. The critical area identified with this methodology was the left posterior superior temporal gyrus, consistent with other methods that have identified an important role of this area in spoken word comprehension. Results have implications for interpretation of other lesion-symptom mapping studies, as well as for understanding areas critical for auditory word comprehension in the healthy brain. We propose that lesion-symptom mapping at the acute stage of stroke addresses a different sort of question about brain-behavior relationships than lesion-symptom mapping at the chronic stage, but that timing of behavioral measurement and imaging modalities should be considered in either case. Hum Brain Mapp 38:2990-3000, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  16. A snapshot of functional genetic studies in Medicago truncatula

    Directory of Open Access Journals (Sweden)

    Yun Kang

    2016-08-01

    Full Text Available In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant.

  17. Genetic Determinism in the Genetics Curriculum: An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

    Science.gov (United States)

    Jamieson, Annie; Radick, Gregory

    2017-01-01

    Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is…

  18. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

    Directory of Open Access Journals (Sweden)

    Christian Gieger

    2008-11-01

    Full Text Available The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or body fluid. It thereby provides a functional readout of the physiological state of the human body. Genetic variants that associate with changes in the homeostasis of key lipids, carbohydrates, or amino acids are not only expected to display much larger effect sizes due to their direct involvement in metabolite conversion modification, but should also provide access to the biochemical context of such variations, in particular when enzyme coding genes are concerned. To test this hypothesis, we conducted what is, to the best of our knowledge, the first GWA study with metabolomics based on the quantitative measurement of 363 metabolites in serum of 284 male participants of the KORA study. We found associations of frequent single nucleotide polymorphisms (SNPs with considerable differences in the metabolic homeostasis of the human body, explaining up to 12% of the observed variance. Using ratios of certain metabolite concentrations as a proxy for enzymatic activity, up to 28% of the variance can be explained (p-values 10(-16 to 10(-21. We identified four genetic variants in genes coding for enzymes (FADS1, LIPC, SCAD, MCAD where the corresponding metabolic phenotype (metabotype clearly matches the biochemical pathways in which these enzymes are active. Our results suggest that common genetic polymorphisms induce major differentiations in the metabolic make-up of the human population. This may lead to a novel approach to personalized health care based on a combination of genotyping and metabolic characterization. These genetically determined metabotypes may subscribe the risk for a certain medical phenotype, the response to a given drug treatment, or the reaction to a nutritional intervention or environmental challenge.

  19. Testing audiovisual comprehension tasks with questions embedded in videos as subtitles: a pilot multimethod study

    Directory of Open Access Journals (Sweden)

    Juan Carlos Casañ Núñez

    2017-06-01

    Full Text Available Listening, watching, reading and writing simultaneously in a foreign language is very complex. This paper is part of wider research which explores the use of audiovisual comprehension questions imprinted in the video image in the form of subtitles and synchronized with the relevant fragments for the purpose of language learning and testing. Compared to viewings where the comprehension activity is available only on paper, this innovative methodology may provide some benefits. Among them, it could reduce the conflict in visual attention between watching the video and completing the task, by spatially and temporally approximating the questions and the relevant fragments. The technique is seen as especially beneficial for students with a low proficiency language level. The main objectives of this study were to investigate if embedded questions had an impact on SFL students’ audiovisual comprehension test performance and to find out what examinees thought about them. A multimethod design (Morse, 2003 involving the sequential collection of three quantitative datasets was employed. A total of 41 learners of Spanish as a foreign language (SFL participated in the study (22 in the control group and 19 in the experimental one. Informants were selected by non-probabilistic sampling. The results showed that imprinted questions did not have any effect on test performance. Test-takers’ attitudes towards this methodology were positive. Globally, students in the experimental group agreed that the embedded questions helped them to complete the tasks. Furthermore, most of them were in favour of having the questions imprinted in the video in the audiovisual comprehension test of the final exam. These opinions are in line with those obtained in previous studies that looked into experts’, SFL students’ and SFL teachers’ views about this methodology (Casañ Núñez, 2015a, 2016a, in press-b. On the whole, these studies suggest that this technique has

  20. Exploring the usefulness of comprehensive care plans for children with medical complexity (CMC: a qualitative study

    Directory of Open Access Journals (Sweden)

    Adams Sherri

    2013-01-01

    Full Text Available Abstract Background The Medical Home model recommends that Children with Special Health Care Needs (CSHCN receive a medical care plan, outlining the child’s major medical issues and care needs to assist with care coordination. While care plans are a primary component of effective care coordination, the creation and maintenance of care plans is time, labor, and cost intensive, and the desired content of the care plan has not been studied. The purpose of this qualitative study was to understand the usefulness and desired content of comprehensive care plans by exploring the perceptions of parents and health care providers (HCPs of children with medical complexity (CMC. Methods This qualitative study utilized in-depth semi-structured interviews and focus groups. HCPs (n = 15 and parents (n = 15 of CMC who had all used a comprehensive care plan were recruited from a tertiary pediatric academic health sciences center. Themes were identified through grounded theory analysis of interview and focus group data. Results A multi-dimensional model of perceived care plan usefulness emerged. The model highlights three integral aspects of the care plan: care plan characteristics, activating factors and perceived outcomes of using a care plan. Care plans were perceived as a useful tool that centralized and focused the care of the child. Care plans were reported to flatten the hierarchical relationship between HCPs and parents, resulting in enhanced reciprocal information exchange and strengthened relationships. Participants expressed that a standardized template that is family-centered and includes content relevant to both the medical and social needs of the child is beneficial when integrated into overall care planning and delivery for CMC. Conclusions Care plans are perceived to be a useful tool to both health care providers and parents of CMC. These findings inform the utility and development of a comprehensive care plan template as well as a model of how

  1. Molecular markers: a potential resource for ginger genetic diversity studies.

    Science.gov (United States)

    Ismail, Nor Asiah; Rafii, M Y; Mahmud, T M M; Hanafi, M M; Miah, Gous

    2016-12-01

    Ginger is an economically important and valuable plant around the world. Ginger is used as a food, spice, condiment, medicine and ornament. There is available information on biochemical aspects of ginger, but few studies have been reported on its molecular aspects. The main objective of this review is to accumulate the available molecular marker information and its application in diverse ginger studies. This review article was prepared by combing material from published articles and our own research. Molecular markers allow the identification and characterization of plant genotypes through direct access to hereditary material. In crop species, molecular markers are applied in different aspects and are useful in breeding programs. In ginger, molecular markers are commonly used to identify genetic variation and classify the relatedness among varieties, accessions, and species. Consequently, it provides important input in determining resourceful management strategies for ginger improvement programs. Alternatively, a molecular marker could function as a harmonizing tool for documenting species. This review highlights the application of molecular markers (isozyme, RAPD, AFLP, SSR, ISSR and others such as RFLP, SCAR, NBS and SNP) in genetic diversity studies of ginger species. Some insights on the advantages of the markers are discussed. The detection of genetic variation among promising cultivars of ginger has significance for ginger improvement programs. This update of recent literature will help researchers and students select the appropriate molecular markers for ginger-related research.

  2. Implementing a cumulative supermatrix approach for a comprehensive phylogenetic study of the Teloschistales (Pezizomycotina, Ascomycota)

    DEFF Research Database (Denmark)

    Gaya, Ester; Högnabba, Filip; Holguin, Ángela

    2012-01-01

    The resolution of the phylogenetic relationships within the order Teloschistales (Ascomycota, lichen-forming-fungi), with nearly 2000 known species and outstanding phenotypic diversity, has been hindered by the limitation in the resolving power that single-locus or two-locus phylogenetic studies...... – the Megalosporaceae – which is sister to the mainly rock-inhabiting, cosmopolitan, and species rich Teloschistaceae, with a diversity of growth habits ranging from crustose to fruticose. Our results confirm the use of a cumulative supermatrix approach as a viable method to generate comprehensive phylogenies...

  3. Syntactic and Lexical Complexity of B2 Listening Comprehension Subtests in English: A Comparative Study

    Directory of Open Access Journals (Sweden)

    Ilc Gašper

    2016-12-01

    Full Text Available Adopting Weir’s (2005 socio-cognitive validation framework, the present paper focuses on the syntactic and lexical complexity of listening comprehension subtests in three B2-level examinations: The City Guilds international examination in English, The First Certificate in English, and the General Matura in English. By analysing and interpreting the results obtained from different automated tools, the research aims to determine to what extent the three subtests are comparable. The results of the study suggest the unreliability of the Common European Framework of Reference for Languages (CEFR as a sole mechanism for test comparisons.

  4. Study on comprehensive evaluation model for nuclear power plant control room layout

    International Nuclear Information System (INIS)

    Zhu Yiming; Liu Yuan; Fan Huixian

    2010-01-01

    A comprehensive evaluation model for layout of the main control room of nuclear power plants was proposed. Firstly the design scope and principle for the layout of the main control room were defined based on the standards, and then the index system for the comprehensive evaluation was established. Finally, comprehensive evaluation was carried out for the layout design by applying the fuzzy comprehensive evaluation method in the index system. (authors)

  5. [Prospect and application of microsatellite population genetics in study of geoherbs].

    Science.gov (United States)

    Zhang, Wen-Jing; Zhang, Yong-Qing; Yuan, Qing-Jun; Huang, Lu-Qi; Jiang, Dan; Jing, Li

    2013-12-01

    The author introduces the basic concepts of microsatellite and population genetics and its characteristics, expounds the application of these theories for population genetic structure and genetic diversity, gene flow and evolutionary significant unit ESU division research. This paper discuss its applicationin study of genetic causes, origin of cultivation, different regional origins of geoherbs, aiming at providing a new theory and method for geoherbs.

  6. Analysis of Informed Consent Document Utilization in a Minimal-Risk Genetic Study

    Science.gov (United States)

    Desch, Karl; Li, Jun; Kim, Scott; Laventhal, Naomi; Metzger, Kristen; Siemieniak, David; Ginsburg, David

    2012-01-01

    Background The signed informed consent document certifies that the process of informed consent has taken place and provides research participants with comprehensive information about their role in the study. Despite efforts to optimize the informed consent document, only limited data are available about the actual use of consent documents by participants in biomedical research. Objective To examine the use of online consent documents in a minimal-risk genetic study. Design Prospective sibling cohort enrolled as part of a genetic study of hematologic and common human traits. Setting University of Michigan Campus, Ann Arbor, Michigan. Participants Volunteer sample of healthy persons with 1 or more eligible siblings aged 14 to 35 years. Enrollment was through targeted e-mail to student lists. A total of 1209 persons completed the study. Measurements Time taken by participants to review a 2833-word online consent document before indicating consent and identification of a masked hyperlink near the end of the document. Results The minimum predicted reading time was 566 seconds. The median time to consent was 53 seconds. A total of 23% of participants consented within 10 seconds, and 93% of participants consented in less than the minimum predicted reading time. A total of 2.5% of participants identified the masked hyperlink. Limitation The online consent process was not observed directly by study investigators, and some participants may have viewed the consent document more than once. Conclusion Few research participants thoroughly read the consent document before agreeing to participate in this genetic study. These data suggest that current informed consent documents, particularly for low-risk studies, may no longer serve the intended purpose of protecting human participants, and the role of these documents should be reassessed. Primary Funding Source National Institutes of Health. PMID:21893624

  7. A strategy analysis for genetic association studies with known inbreeding

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

    Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

  8. Does comprehensive redevelopment change the housing price gradient? A case study in Mongkok, Hong Kong

    Directory of Open Access Journals (Sweden)

    Yung Yau

    2011-01-01

    Full Text Available Urban decay is an inevitable outcome of the growth of most cities, including Hong Kong. Many old buildings in Hong Kong are dilapidated, and it is urgent to tackle urban decay in the city. Redeveloping dilapidated buildings has long been regarded as an effective solution to this urban problem. Yet, as suggested in the literature, redevelopment may be responsible for gentrifying neighbourhoods because it pushes up property and rental prices near redeveloped sites. However, there are still few empirical studies on how comprehensive redevelopment affects housing values in a neighbourhood. In this light, this study investigates the impacts of the Urban Renewal Authority’s Argyle Street / Shanghai Street Redevelopment Project on the transaction prices of nearby housing. A set of panel data is employed and the change in the spatial price gradient before and after the redevelopment project is explored. The findings suggest that proximity to the project site had a significant positive impact on housing prices before the project. However, no change was seen in the spatial price gradient after completion of the project. These results confirm the findings of a previous study that housing prices do not respond to the change in the environmental quality resulting from comprehensive redevelopment.

  9. Comprehensive study of flow and heat transfer at the surface of circular cooling fin

    Science.gov (United States)

    Mityakov, V. Yu; Grekov, M. A.; Gusakov, A. A.; Sapozhnikov, S. Z.; Seroshtanov, V. V.; Bashkatov, A. V.; Dymkin, A. N.; Pavlov, A. V.; Milto, O. A.; Kalmykov, K. S.

    2017-11-01

    For the first time is proposed to combine heat flux measurements with thermal imaging and PIV (particle image velocimetry) for a comprehensive study of flow and heat transfer at the surface of the circular cooling fin. The investigated hollow fin is heated from within with saturated water steam; meanwhile the isothermal external surface simulates one of the perfect fin. Flow and heat transfer at the surface of the solid fin of the same size and shape, made of titanium alloy is investigated in the same regimes. Gradient Heat Flux Sensors (GHFS) were installed at different places of the fin surface. Velocity field around a cylinder, temperature field at the surface of the fin and heat flux for each rated time were obtained. Comprehensive method including heat flux measurement, PIV and thermal imaging allow to study flow and heat transfer at the surface of the fin in real time regime. The possibility to study flow and heat transfer for non-isothermal fins is shown; it is allow to improve traditional calculation of the cooling fins.

  10. Comparative genetics: synergizing human and NOD mouse studies for identifying genetic causation of type 1 diabetes.

    Science.gov (United States)

    Driver, John P; Chen, Yi-Guang; Mathews, Clayton E

    2012-01-01

    Although once widely anticipated to unlock how human type 1 diabetes (T1D) develops, extensive study of the nonobese diabetic (NOD) mouse has failed to yield effective treatments for patients with the disease. This has led many to question the usefulness of this animal model. While criticism about the differences between NOD and human T1D is legitimate, in many cases disease in both species results from perturbations modulated by the same genes or different genes that function within the same biological pathways. Like in humans, unusual polymorphisms within an MHC class II molecule contributes the most T1D risk in NOD mice. This insight supports the validity of this model and suggests the NOD has been improperly utilized to study how to cure or prevent disease in patients. Indeed, clinical trials are far from administering T1D therapeutics to humans at the same concentration ranges and pathological states that inhibit disease in NOD mice. Until these obstacles are overcome it is premature to label the NOD mouse a poor surrogate to test agents that cure or prevent T1D. An additional criticism of the NOD mouse is the past difficulty in identifying genes underlying T1D using conventional mapping studies. However, most of the few diabetogenic alleles identified to date appear relevant to the human disorder. This suggests that rather than abandoning genetic studies in NOD mice, future efforts should focus on improving the efficiency with which diabetes susceptibility genes are detected. The current review highlights why the NOD mouse remains a relevant and valuable tool to understand the genes and their interactions that promote autoimmune diabetes and therapeutics that inhibit this disease. It also describes a new range of technologies that will likely transform how the NOD mouse is used to uncover the genetic causes of T1D for years to come.

  11. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

    Science.gov (United States)

    Waszak, Sebastian M; Northcott, Paul A; Buchhalter, Ivo; Robinson, Giles W; Sutter, Christian; Groebner, Susanne; Grund, Kerstin B; Brugières, Laurence; Jones, David T W; Pajtler, Kristian W; Morrissy, A Sorana; Kool, Marcel; Sturm, Dominik; Chavez, Lukas; Ernst, Aurelie; Brabetz, Sebastian; Hain, Michael; Zichner, Thomas; Segura-Wang, Maia; Weischenfeldt, Joachim; Rausch, Tobias; Mardin, Balca R; Zhou, Xin; Baciu, Cristina; Lawerenz, Christian; Chan, Jennifer A; Varlet, Pascale; Guerrini-Rousseau, Lea; Fults, Daniel W; Grajkowska, Wiesława; Hauser, Peter; Jabado, Nada; Ra, Young-Shin; Zitterbart, Karel; Shringarpure, Suyash S; De La Vega, Francisco M; Bustamante, Carlos D; Ng, Ho-Keung; Perry, Arie; MacDonald, Tobey J; Hernáiz Driever, Pablo; Bendel, Anne E; Bowers, Daniel C; McCowage, Geoffrey; Chintagumpala, Murali M; Cohn, Richard; Hassall, Timothy; Fleischhack, Gudrun; Eggen, Tone; Wesenberg, Finn; Feychting, Maria; Lannering, Birgitta; Schüz, Joachim; Johansen, Christoffer; Andersen, Tina V; Röösli, Martin; Kuehni, Claudia E; Grotzer, Michael; Kjaerheim, Kristina; Monoranu, Camelia M; Archer, Tenley C; Duke, Elizabeth; Pomeroy, Scott L; Shelagh, Redmond; Frank, Stephan; Sumerauer, David; Scheurlen, Wolfram; Ryzhova, Marina V; Milde, Till; Kratz, Christian P; Samuel, David; Zhang, Jinghui; Solomon, David A; Marra, Marco; Eils, Roland; Bartram, Claus R; von Hoff, Katja; Rutkowski, Stefan; Ramaswamy, Vijay; Gilbertson, Richard J; Korshunov, Andrey; Taylor, Michael D; Lichter, Peter; Malkin, David; Gajjar, Amar; Korbel, Jan O; Pfister, Stefan M

    2018-06-01

    Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MB WNT ), SHH (MB SHH ), group 3 (MB Group3 ), and group 4 (MB Group4 ). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105

  12. The household contact study design for genetic epidemiological studies of infectious diseases

    Directory of Open Access Journals (Sweden)

    Catherine eStein

    2013-04-01

    Full Text Available Most genetic epidemiological study designs fall into one of two categories: family-based and population-based (case-control. However, recent advances in statistical genetics call for study designs that combine these two approaches. We describe the household contact study design as we have applied it in our several years of study of the epidemiology of tuberculosis. Though we highlight its applicability for genetic epidemiological studies of infectious diseases, there are many facets of this design that are appealing for modern genetic studies, including the simultaneous enrollment of related and unrelated individuals, closely and distantly related individuals, collection of extensive epidemiologic and phenotypic data, and evaluation of effects of shared environment and gene by environment interaction. These study design characteristics are particularly appealing for current sequencing studies.

  13. A comprehensive joint replacement program for total knee arthroplasty: a descriptive study

    Directory of Open Access Journals (Sweden)

    Prefontaine Paul

    2008-11-01

    Full Text Available Abstract Background Total knee arthroplasty (TKA is a commonly performed surgical procedure in the US. It is important to have a comprehensive inpatient TKA program which maximizes outcomes while minimizing adverse events. The purpose of this study was to describe a TKA program – the Joint Replacement Program (JRP – and report post-surgical outcomes. Methods 74 candidates for a primary TKA were enrolled in the JRP. The JRP was designed to minimize complications and optimize patient-centered outcomes using a team approach including the patient, patient's family, and a multidisciplinary team of health professionals. The JRP consisted of a pre-operative class, standard pathways for medical care, comprehensive peri-operative pain management, aggressive physical therapy (PT, and proactive discharge planning. Measures included functional tests, knee range of motion (ROM, and medical record abstraction of patient demographics, length of stay, discharge disposition, and complications over a 6-month follow-up period. Results All patients achieved medical criteria for hospital discharge. The patients achieved the knee flexion ROM goal of 90° (91.7 ± 5.4°, but did not achieve the knee extension ROM goal of 0° (2.4 ± 2.6°. The length of hospital stay was two days for 53% of the patients, with 39% and 7% discharged in three and four days, respectively. All but three patients were discharged home with functional independence. 68% of these received outpatient physical therapy compared with 32% who received home physical therapy immediately after discharge. Two patients ( Conclusion The comprehensive JRP for TKA was associated with satisfactory clinical outcomes, short lengths of stay, a high percentage of patients discharged home with outpatient PT, and minimal complications. This JRP may represent an efficient, effective and safe protocol for providing care after a TKA.

  14. Comprehensive modelling study on observed new particle formation at the SORPES station in Nanjing, China

    Directory of Open Access Journals (Sweden)

    X. Huang

    2016-03-01

    Full Text Available New particle formation (NPF has been investigated intensively during the last 2 decades because of its influence on aerosol population and the possible contribution to cloud condensation nuclei. However, intensive measurements and modelling activities on this topic in urban metropolitan areas in China with frequent high-pollution episodes are still very limited. This study provides results from a comprehensive modelling study on the occurrence of NPF events in the western part of the Yangtze River Delta (YRD region, China. The comprehensive modelling system, which combines the WRF-Chem (the Weather Research and Forecasting model coupled with Chemistry regional chemical transport model and the MALTE-BOX sectional box model (the model to predict new aerosol formation in the lower troposphere, was shown to be capable of simulating atmospheric nucleation and subsequent growth. Here we present a detailed discussion of three typical NPF days, during which the measured air masses were notably influenced by either anthropogenic activities, biogenic emissions, or mixed ocean and continental sources. Overall, simulated NPF events were generally in good agreement with the corresponding measurements, enabling us to get further insights into NPF processes in the YRD region. Based on the simulations, we conclude that biogenic organic compounds, particularly monoterpenes, play an essential role in the initial condensational growth of newly formed clusters through their low-volatility oxidation products. Although some uncertainties remain in this modelling system, this method provides a possibility to better understand particle formation and growth processes.

  15. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  16. Genetic Influences on Pulmonary Function: A Large Sample Twin Study

    DEFF Research Database (Denmark)

    Ingebrigtsen, Truls S; Thomsen, Simon F; van der Sluis, Sophie

    2011-01-01

    Heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and peak expiratory flow (PEF) has not been previously addressed in large twin studies. We evaluated the genetic contribution to individual differences observed in FEV(1), FVC, and PEF using data from...... the largest population-based twin study on spirometry. Specially trained lay interviewers with previous experience in spirometric measurements tested 4,314 Danish twins (individuals), 46-68 years of age, in their homes using a hand-held spirometer, and their flow-volume curves were evaluated. Modern variance...

  17. A Comprehensive Framework for Information Technology Governance and Localizing it for Automotive Industry of Iran (Case Study: ATLAS Automotive Holding

    Directory of Open Access Journals (Sweden)

    Mohammad Mosakhani

    2017-03-01

    Full Text Available Due to the absence of a comprehensive framework for IT governance, the main objective of the study is to identify all components of IT governance and present them in the form of a comprehensive IT governance framework .The localization of provided framework for the automotive industry is the secondary objective of the study. In this regard, the research questions are: what is the comprehensive framework of IT governance? What are the components and dimensions of a comprehensive framework of IT governance? What is the localized comprehensive framework of IT governance for the Iranian automotive industry? All researches on IT governance were investigated using meta-synthesis qualitative method and were limited to 96 selected articles by performing a meta-synthesis process. Then, the five categories, 19 concepts and 79 codes of IT governance were identified through detailed study of these articles. Then, a comprehensive framework of IT governance was presented. For localizing, a questionnaire designed based on the identified IT governance components, and distributed among the automotive industry experts. Statistical hypothesis testing of collected data led to the rejection of cross/functional job rotation component in the automotive industry. To demonstrate the applicability of the framework, the IT governance status of ATLAS holding company was evaluated based on the comprehensive framework that localized for automotive industry.

  18. Comprehensive Dataset and Reports of the Mamala Bay Study during 1993-1995 on Oahu, Hawaii (NODC Accession 0000030)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This accession contains comprehensive dataset and reports collected in support of the Mamala Bay Study during 1993-1995. Physical, chemical, biological, and...

  19. Methodology for single-cell genetic analysis of planktonic foraminifera for studies of protist diversity and evolution

    Directory of Open Access Journals (Sweden)

    Agnes Katharina Maria Weiner

    2016-12-01

    Full Text Available Single-cell genetic analysis is an essential method to investigate the biodiversity and evolutionary ecology of marine protists. In protist groups that do not reproduce under laboratory conditions, this approach provides the only means to directly associate molecular sequences with cell morphology. The resulting unambiguous taxonomic identification of the DNA sequences is a prerequisite for barcoding and analyses of environmental metagenomic data. Extensive single-cell genetic studies have been carried out on planktonic foraminifera over the past 20 years to elucidate their phylogeny, cryptic diversity, biogeography and the relationship between genetic and morphological variability. In the course of these investigations, it has become evident that genetic analysis at the individual specimen level is confronted by innumerable challenges ranging from the negligible amount of DNA present in the single cell to the substantial amount of DNA contamination introduced by endosymbionts or food particles. Consequently, a range of methods has been developed and applied throughout the years for the genetic analysis of planktonic foraminifera in order to enhance DNA amplification success rates. Yet, the description of these methods in the literature rarely occurred with equivalent levels of detail and the different approaches have never been compared in terms of their efficiency and reproducibility. Here, aiming at a standardization of methods, we provide a comprehensive review of all methods that have been employed for the single-cell genetic analysis of planktonic foraminifera. We compile data on success rates of DNA amplification and use these to evaluate the effects of key parameters associated with the methods of sample collection, storage and extraction of single-cell DNA. We show that the chosen methods influence the success rates of single-cell genetic studies, but the differences between them are not sufficient to hinder comparisons between studies

  20. Levels of Evidence: Cancer Genetics Studies (PDQ®)—Health Professional Version

    Science.gov (United States)

    Levels of Evidence for Cancer Genetics Studies addresses the process and challenges of developing evidence-based summaries. Get information about how to weigh the strength of the evidence from cancer genetics studies in this summary for clinicians.

  1. Comprehensive joint feedback control for standing by functional neuromuscular stimulation-a simulation study.

    Science.gov (United States)

    Nataraj, Raviraj; Audu, Musa L; Kirsch, Robert F; Triolo, Ronald J

    2010-12-01

    Previous investigations of feedback control of standing after spinal cord injury (SCI) using functional neuromuscular stimulation (FNS) have primarily targeted individual joints. This study assesses the potential efficacy of comprehensive (trunk, hips, knees, and ankles) joint feedback control against postural disturbances using a bipedal, 3-D computer model of SCI stance. Proportional-derivative feedback drove an artificial neural network trained to produce muscle excitation patterns consistent with maximal joint stiffness values achievable about neutral stance given typical SCI muscle properties. Feedback gains were optimized to minimize upper extremity (UE) loading required to stabilize against disturbances. Compared to the baseline case of maximum constant muscle excitations used clinically, the controller reduced UE loading by 55% in resisting external force perturbations and by 84% during simulated one-arm functional tasks. Performance was most sensitive to inaccurate measurements of ankle plantar/dorsiflexion position and hip ab/adduction velocity feedback. In conclusion, comprehensive joint feedback demonstrates potential to markedly improve FNS standing function. However, alternative control structures capable of effective performance with fewer sensor-based feedback parameters may better facilitate clinical usage.

  2. Comprehensive Joint Feedback Control for Standing by Functional Neuromuscular Stimulation – a Simulation Study

    Science.gov (United States)

    Nataraj, Raviraj; Audu, Musa L.; Kirsch, Robert F.; Triolo, Ronald J.

    2013-01-01

    Previous investigations of feedback control of standing after spinal cord injury (SCI) using functional neuromuscular stimulation (FNS) have primarily targeted individual joints. This study assesses the potential efficacy of comprehensive (trunk, hips, knees, and ankles) joint-feedback control against postural disturbances using a bipedal, three-dimensional computer model of SCI stance. Proportional-derivative feedback drove an artificial neural network trained to produce muscle excitation patterns consistent with maximal joint stiffness values achievable about neutral stance given typical SCI muscle properties. Feedback gains were optimized to minimize upper extremity (UE) loading required to stabilize against disturbances. Compared to the baseline case of maximum constant muscle excitations used clinically, the controller reduced UE loading by 55% in resisting external force perturbations and by 84% during simulated one-arm functional tasks. Performance was most sensitive to inaccurate measurements of ankle plantar/dorsiflexion position and hip ab/adduction velocity feedback. In conclusion, comprehensive joint-feedback demonstrates potential to markedly improve FNS standing function. However, alternative control structures capable of effective performance with fewer sensor-based feedback parameters may better facilitate clinical usage. PMID:20923741

  3. Developing a More Comprehensive SOA Governance Framework by Using a Comparative Study Approach

    Directory of Open Access Journals (Sweden)

    Fazilat Hojaji

    2014-02-01

    Full Text Available Many companies have adopted Service-Oriented Architecture (SOA as an approach to improve agility and increase performance of system development.However, deploying SOA has been encountered to some challenges and problems including difficulties in designing effective decision structures and building a SOA roadmap, lack of service funding and lack of consistent governance processes. Therefore, to address SOA challenges, organizations require a comprehensive and applicable SOA governance framework to implement management and control mechanisms. Study of existing SOA governance frameworks reveals that these frameworks are not expressive enough to cover all important elements of SOA governance and also, the y have very little discussions and clarifications regarding underpinning structures such as SOA processes and activities, governance procedures and measurement metrics. In this paper, in the process of proposing a new SOA governance framework, a set of important elements for a desired SOA governance framework is proposed. Based on these elements, a more comprehensive and expressive framework is developed based on governance structure of COBIT. It focuses on covering SOA governance elements and resolving the shortcomings of the existing frameworks and can delivers an appropriate solution to help enable effective SOA governance.

  4. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

    Science.gov (United States)

    Borràs, Nina; Batlle, Javier; Pérez-Rodríguez, Almudena; López-Fernández, María Fernanda; Rodríguez-Trillo, Ángela; Lourés, Esther; Cid, Ana Rosa; Bonanad, Santiago; Cabrera, Noelia; Moret, Andrés; Parra, Rafael; Mingot-Castellano, María Eva; Balda, Ignacia; Altisent, Carme; Pérez-Montes, Rocío; Fisac, Rosa María; Iruín, Gemma; Herrero, Sonia; Soto, Inmaculada; de Rueda, Beatriz; Jiménez-Yuste, Víctor; Alonso, Nieves; Vilariño, Dolores; Arija, Olga; Campos, Rosa; Paloma, María José; Bermejo, Nuria; Berrueco, Rubén; Mateo, José; Arribalzaga, Karmele; Marco, Pascual; Palomo, Ángeles; Sarmiento, Lizheidy; Iñigo, Belén; Nieto, María Del Mar; Vidal, Rosa; Martínez, María Paz; Aguinaco, Reyes; César, Jesús María; Ferreiro, María; García-Frade, Javier; Rodríguez-Huerta, Ana María; Cuesta, Jorge; Rodríguez-González, Ramón; García-Candel, Faustino; Cornudella, Rosa; Aguilar, Carlos; Vidal, Francisco; Corrales, Irene

    2017-12-01

    Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF , including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF , 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population. Copyright© 2017 Ferrata Storti Foundation.

  5. Comprehensive approach to study complement C4 in systemic lupus erythematosus: Gene polymorphisms, protein levels and functional activity

    NARCIS (Netherlands)

    Tsang-A-Sjoe, M. W. P.; Bultink, I. E. M.; Korswagen, L. A.; van der Horst, A. [=Anneke; Rensink, I.; de Boer, M.; Hamann, D.; Voskuyl, A. E.; Wouters, D.

    2017-01-01

    Genetic variation of the genes encoding complement component C4 is strongly associated with systemic lupus erythematosus (SLE), a chronic multi-organ auto-immune disease. This study examined C4 and its isotypes on a genetic, protein, and functional level in 140 SLE patients and 104 healthy controls.

  6. Teachers’ Thoughts and Students’ Strategies : An empirical study on Swedish upper-secondary students’ andteachers’ perception on reading comprehension

    OpenAIRE

    Sibahi, Samir

    2017-01-01

    Previous studies have shown that explicit reading strategy teaching has positive effects on English second language (ESL) students’ reading comprehension. However, Swedish upper- secondary students’ attitudes towards English reading comprehension classes are relatively unknown. This study therefore has the objectives of finding out to what extent reading strategies are taught explicitly in upper-secondary schools in Sweden, and to investigate how students and teachers perceive reading compreh...

  7. GLOBAL CLIMATE MODEL:A COMPREHENSIVE TOOL IN CLIMATE CHANGE IMPACT STUDIES

    Directory of Open Access Journals (Sweden)

    Dharmaveer Singh

    2015-01-01

    Full Text Available There is growing concern, how and to what extent future changes in climate will affect human society and natural environments. Continuous emissions of Green House Gasses (GHGs at or above current rates will cause further warming. This, in turn, may modify global climate system during 21st century that very likely would have larger impacts than those observed during 20th century. At present, Global Climate Models (GCMs are only the most reliable tools available for studying behaviour of the climate system. This paper presents a comprehensive review of GCMs including their development and applications in climate change impacts studies. Following a discussion of the limitations of GCMs at regional and local scales, different approaches of downscaling are discussed in detail.

  8. Scalable total synthesis and comprehensive structure-activity relationship studies of the phytotoxin coronatine.

    Science.gov (United States)

    Littleson, Mairi M; Baker, Christopher M; Dalençon, Anne J; Frye, Elizabeth C; Jamieson, Craig; Kennedy, Alan R; Ling, Kenneth B; McLachlan, Matthew M; Montgomery, Mark G; Russell, Claire J; Watson, Allan J B

    2018-03-16

    Natural phytotoxins are valuable starting points for agrochemical design. Acting as a jasmonate agonist, coronatine represents an attractive herbicidal lead with novel mode of action, and has been an important synthetic target for agrochemical development. However, both restricted access to quantities of coronatine and a lack of a suitably scalable and flexible synthetic approach to its constituent natural product components, coronafacic and coronamic acids, has frustrated development of this target. Here, we report gram-scale production of coronafacic acid that allows a comprehensive structure-activity relationship study of this target. Biological assessment of a >120 member library combined with computational studies have revealed the key determinants of potency, rationalising hypotheses held for decades, and allowing future rational design of new herbicidal leads based on this template.

  9. A reverse genetics approach to study feline infectious peritonitis.

    Science.gov (United States)

    Tekes, Gergely; Spies, Danica; Bank-Wolf, Barbara; Thiel, Volker; Thiel, Heinz-Jürgen

    2012-06-01

    Feline infectious peritonitis (FIP) is a lethal immunopathological disease caused by feline coronaviruses (FCoVs). Here, we describe a reverse genetics approach to study FIP by assessing the pathogenicity of recombinant type I and type II and chimeric type I/type II FCoVs. All recombinant FCoVs established productive infection in cats, and recombinant type II FCoV (strain 79-1146) induced FIP. Virus sequence analyses from FIP-diseased cats revealed that the 3c gene stop codon of strain 79-1146 has changed to restore a full-length open reading frame (ORF).

  10. Polymorphic microsatellite markers for genetic studies of African ...

    African Journals Online (AJOL)

    Administrator

    2011-09-26

    Sep 26, 2011 ... Many wild animal species lack informative genetic markers for analysing genetic variation and ... which act as important buffer zones between human and wildlife. ..... amplification tests of ungulate primers in the endangered.

  11. Pharmacogenomics Bias - Systematic distortion of study results by genetic heterogeneity

    Directory of Open Access Journals (Sweden)

    Zietemann, Vera

    2008-04-01

    Full Text Available Background: Decision analyses of drug treatments in chronic diseases require modeling the progression of disease and treatment response beyond the time horizon of clinical or epidemiological studies. In many such models, progression and drug effect have been applied uniformly to all patients; heterogeneity in progression, including pharmacogenomic effects, has been ignored. Objective: We sought to systematically evaluate the existence, direction and relative magnitude of a pharmacogenomics bias (PGX-Bias resulting from failure to adjust for genetic heterogeneity in both treatment response (HT and heterogeneity in progression of disease (HP in decision-analytic studies based on clinical study data. Methods: We performed a systematic literature search in electronic databases for studies regarding the effect of genetic heterogeneity on the validity of study results. Included studies have been summarized in evidence tables. In the case of lacking evidence from published studies we sought to perform our own simulation considering both HT and HP. We constructed two simple Markov models with three basic health states (early-stage disease, late-stage disease, dead, one adjusting and the other not adjusting for genetic heterogeneity. Adjustment was done by creating different disease states for presence (G+ and absence (G- of a dichotomous genetic factor. We compared the life expectancy gains attributable to treatment resulting from both models and defined pharmacogenomics bias as percent deviation of treatment-related life expectancy gains in the unadjusted model from those in the adjusted model. We calculated the bias as a function of underlying model parameters to create generic results. We then applied our model to lipid-lowering therapy with pravastatin in patients with coronary atherosclerosis, incorporating the influence of two TaqIB polymorphism variants (B1 and B2 on progression and drug efficacy as reported in the DNA substudy of the REGRESS

  12. A comprehensive study of extended tetrathiafulvalene cruciform molecules for molecular electronics: synthesis and electrical transport measurements.

    Science.gov (United States)

    Parker, Christian R; Leary, Edmund; Frisenda, Riccardo; Wei, Zhongming; Jennum, Karsten S; Glibstrup, Emil; Abrahamsen, Peter Bæch; Santella, Marco; Christensen, Mikkel A; Della Pia, Eduardo Antonio; Li, Tao; Gonzalez, Maria Teresa; Jiang, Xingbin; Morsing, Thorbjørn J; Rubio-Bollinger, Gabino; Laursen, Bo W; Nørgaard, Kasper; van der Zant, Herre; Agrait, Nicolas; Nielsen, Mogens Brøndsted

    2014-11-26

    Cruciform-like molecules with two orthogonally placed π-conjugated systems have in recent years attracted significant interest for their potential use as molecular wires in molecular electronics. Here we present synthetic protocols for a large selection of cruciform molecules based on oligo(phenyleneethynylene) (OPE) and tetrathiafulvalene (TTF) scaffolds, end-capped with acetyl-protected thiolates as electrode anchoring groups. The molecules were subjected to a comprehensive study of their conducting properties as well as their photophysical and electrochemical properties in solution. The complex nature of the molecules and their possible binding in different configurations in junctions called for different techniques of conductance measurements: (1) conducting-probe atomic force microscopy (CP-AFM) measurements on self-assembled monolayers (SAMs), (2) mechanically controlled break-junction (MCBJ) measurements, and (3) scanning tunneling microscopy break-junction (STM-BJ) measurements. The CP-AFM measurements showed structure-property relationships from SAMs of series of OPE3 and OPE5 cruciform molecules; the conductance of the SAM increased with the number of dithiafulvene (DTF) units (0, 1, 2) along the wire, and it increased when substituting two arylethynyl end groups of the OPE3 backbone with two DTF units. The MCBJ and STM-BJ studies on single molecules both showed that DTFs decreased the junction formation probability, but, in contrast, no significant influence on the single-molecule conductance was observed. We suggest that the origins of the difference between SAM and single-molecule measurements lie in the nature of the molecule-electrode interface as well as in effects arising from molecular packing in the SAMs. This comprehensive study shows that for complex molecules care should be taken when directly comparing single-molecule measurements and measurements of SAMs and solid-state devices thereof.

  13. A comprehensive study of metal distribution in three main classes of seaweed

    International Nuclear Information System (INIS)

    Ryan, Siobhan; McLoughlin, Peter; O'Donovan, Orla

    2012-01-01

    This paper provides one of the most comprehensive studies of metal distributions in three main macroalgae species. In this novel study, levels of total, intracellular and surface bound Pb, Zn, As, Cd, Co, Cr, Cu, Mn and Ni associated with Polysiphonia lanosa (L) Tandy, Ascophyllum nodosum (L) Le Jolis, Fucus vesiculosus (L) and Ulva sp. were determined. Additionally, water and sediment metal levels were analysed to gain an insight into the relative uptake efficiencies of different macroalgal species. Samples were collected from a clean site in Fethard-on-Sea, Wexford, Ireland (52°11′53.68′N, 6°49′34.64′W), in May 2008. Results demonstrated that total, intracellular and surface bound metal levels varied according to metal and seaweed species, with the highest proportion of metals found to be intracellular. Inhibition of Mn uptake by Zn was indicated for P. lanosa. Furthermore, P. lanosa had enhanced bioaccumulation ability, with the highest Concentration Factor reported of any seaweed to date. - Highlights: ► Three main classes of seaweed were collected from the South-East coast of Ireland. ► Metal levels (total, intracellular and surface-bound) in four seaweed species were determined. ► Metal levels of seawater and sediment samples collected from the same location were quantified. ► The Concentration Factors for P. lanosa, A. nodosum, F. vesiculosus and Ulva sp., were calculated. ► Interspecies variations in seaweed metal concentrations were demonstrated. - This study, reports the most comprehensive uptake efficiencies and distributions of metals in four main seaweed sps., with P. lanosa demonstrating excellent bioaccumulation ability.

  14. Application, results and perceptions of a think-aloud study in listening comprehension of Spanish

    DEFF Research Database (Denmark)

    Nogueroles López, Marta

    2017-01-01

    . After listening, they completed five comprehension questions, listened one more time with the transcript, reflected on their understanding and their strategic behaviour, and evaluated the protocol itself. These interviews were recorded, transcribed, analysed, categorized and computed. Results reveal......The present article outlines the procedure and shows the outcomes of a think-aloud study intended to, first, find out what listening strategies Hong Kong students of Spanish use to comprehend a particular oral passage in the target language, and, second, understand the participants’ perceptions...... of the think-aloud protocol. Such a protocol was developed during interviews in which students listened to an unidirectional text in Spanish twice, the first time interruptedly and the second without intermediate pauses, and were asked to verbalize the processes they had been using to understand such a passage...

  15. Using interactive graphical and technological strategies for EFL reading comprehension: A case study involving engineering students

    Directory of Open Access Journals (Sweden)

    Julia Valeska Barraza

    2014-09-01

    Full Text Available This qualitative study engaged a group of engineering students in the use of interactive graphical and technological strategies called IGOs (interactive, graphic organisers software in order to improve their level of EFL reading comprehension. The learners were asked to use three different types of IGOs, causes and effects, a sequence of events and pros and cons. Data was gathered through an opinion’s survey with the intention of collecting and evaluating the students’ perceptions on the use of the IGOs software. Findings revealed that most of the learners answered positively. Students also expressed they wanted more opportunities to use this software; because they not only could improve their scores but also, they enjoyed the experience they had using the new strategies software.

  16. Comprehensive study of temperature anomalies on of the former Semipalatinsk nuclear test site territory

    International Nuclear Information System (INIS)

    Subbotin, S.B.; Lukashenko, S.N.; Dmitropavlenko, V.N.; Ajdarkhanov, A.O.; Duchkov, A.D.; Kazantsev, S.A.

    2005-01-01

    In 1997 by the space images data in the Semipalatinsk test site area a mysterious anomaly thermal zone with square about 20 thousand sq. km. with soil temperature 10-15 degrees above than on the adjacent areas was found. The results of 1996-1999 observation confirm the presence of steady temperature anomalies. A number of scientists are suggesting that the increased temperature zones are related with conducted nuclear tests. These temperature anomalies related with objects of nuclear explosions conduction and its have limited distribution the spatially attached to nuclear explosions cavities. Anomalies are the sequent of residual manifestation of long-time geothermal activity in the underground nuclear explosions epicenters. In 2001 in the frameworks of joint program 'Comprehensive study of thermal anomalies on the territory of the former Semipalatinsk test site' the direct measurements of soils on the five sections which were selected by the results of space images

  17. Comprehensive genomic studies: emerging regulatory, strategic, and quality assurance challenges for biorepositories.

    Science.gov (United States)

    McDonald, Sandra A; Mardis, Elaine R; Ota, David; Watson, Mark A; Pfeifer, John D; Green, Jonathan M

    2012-07-01

    As part of the molecular revolution sweeping medicine, comprehensive genomic studies are adding powerful dimensions to medical research. However, their power exposes new regulatory, strategic, and quality assurance challenges for biorepositories. A key issue is that unlike other research techniques commonly applied to banked specimens, nucleic acid sequencing, if sufficiently extensive, yields data that could identify a patient. This evolving paradigm renders the concepts of anonymized and anonymous specimens increasingly outdated. The challenges for biorepositories in this new era include refined consent processes and wording, selection and use of legacy specimens, quality assurance procedures, institutional documentation, data sharing, and interaction with institutional review boards. Given current trends, biorepositories should consider these issues now, even if they are not currently experiencing sample requests for genomic analysis. We summarize our current experiences and best practices at Washington University Medical School, St Louis, MO, our perceptions of emerging trends, and recommendations.

  18. A Comprehensive Study of the Polypropylene Fiber Reinforced Fly Ash Based Geopolymer

    DEFF Research Database (Denmark)

    Ranjbar, Navid; Mehrali, Mehdi; Behnia, Arash

    2016-01-01

    and long term impacts of different volume percentages of polypropylene fiber (PPF) reinforcement on fly ash based geopolymer composites. Different characteristics of the composite were compared at fresh state by flow measurement and hardened state by variation of shrinkage over time to assess the response...... of composites under flexural and compressive load conditions. The fiber-matrix interface, fiber surface and toughening mechanisms were assessed using field emission scan electron microscopy (FESEM) and atomic force microscopy (AFM). The results show that incorporation of PPF up to 3 wt % into the geopolymer......As a cementitious material, geopolymers show a high quasi-brittle behavior and a relatively low fracture energy. To overcome such a weakness, incorporation of fibers to a brittle matrix is a well-known technique to enhance the flexural properties. This study comprehensively evaluates the short...

  19. Cognitive Frailty in China: Results from China Comprehensive Geriatric Assessment Study

    Directory of Open Access Journals (Sweden)

    Lina Ma

    2017-10-01

    Full Text Available ObjectiveCognitive frailty (CF refers to the co-occurrence of physical frailty (PF and cognitive impairment in persons without dementia. We aimed to explore the prevalence and associated factors of CF in China.MethodData were obtained from the China Comprehensive Geriatric Assessment Study. A total of 5,708 community-dwelling older adults without dementia were included. CF was assessed using the Mini–Mental State Examination for the evaluation of cognitive status and the Comprehensive Geriatric Assessment-Frailty Index for the evaluation of PF. Participants with both cognitive impairment and PF were classified as having CF. Sociodemographic and clinical history was also collected. Logistic analysis was used to explore the association between the associated factors and CF.ResultsThe overall crude prevalence of CF was 3.3% [95% confidence interval (CI = 3.0–4.0], and the standard prevalence of CF was 2.7% (95% CI = 2.0–3.0. The prevalence of CF was significantly higher in women than men and higher in residents of rural areas than urban areas. Moreover, the prevalence of CF was found to increase with age. Multiple factor analysis showed that depression (OR = 2.462, 95% CI = 1.066–5.687 and hearing impairment (OR = 2.713, 95% CI = 1.114–6.608 were independent associated factors of CF in elderly individuals with PF.ConclusionOur results provide the first empirical evidence of CF in China. We have identified several associated factors with CF which should be considered while assessing older adults. More studies in Chinese population with CF are demanded to confirm with our findings.

  20. A Comprehensive Study of Agricultural Drought Resistance and Background Drought Levels in Five Main Grain-Producing Regions of China

    OpenAIRE

    Lei Kang; Hongqi Zhang

    2016-01-01

    Drought control and resistance affect national food security. With this in mind, we studied five main grain-producing regions of China: Sanjiang Plain, Songnen Plain, Huang-Huai-Hai Plain, the middle Yangtze River and Jianghuai region and Sichuan Basin. Using GIS technology, we evaluated the comprehensive agricultural drought situation based on major crops, the basic drought resistance by integrating multiple indicators and the comprehensive drought resistance against background agricultural ...

  1. Comprehensive genetic analyses reveal evolutionary distinction of a mouse (Zapus hudsonius preblei) proposed for delisting from the US Endangered Species Act.

    Science.gov (United States)

    King, Tim L; Switzer, John F; Morrison, Cheryl L; Eackles, Michael S; Young, Colleen C; Lubinski, Barbara A; Cryan, Paul

    2006-12-01

    Zapus hudsonius preblei, listed as threatened under the US Endangered Species Act (ESA), is one of 12 recognized subspecies of meadow jumping mice found in North America. Recent morphometric and phylogenetic comparisons among Z. h. preblei and neighbouring conspecifics questioned the taxonomic status of selected subspecies, resulting in a proposal to delist the Z. h. preblei from the ESA. We present additional analyses of the phylogeographic structure within Z. hudsonius that calls into question previously published data (and conclusions) and confirms the original taxonomic designations. A survey of 21 microsatellite DNA loci and 1380 base pairs from two mitochondrial DNA (mtDNA) regions (control region and cytochrome b) revealed that each Z. hudsonius subspecies is genetically distinct. These data do not support the null hypothesis of a homogeneous gene pool among the five subspecies found within the southwestern portion of the species' range. The magnitude of the observed differentiation was considerable and supported by significant findings for nearly every statistical comparison made, regardless of the genome or the taxa under consideration. Structuring of nuclear multilocus genotypes and subspecies-specific mtDNA haplotypes corresponded directly with the disjunct distributions of the subspecies investigated. Given the level of correspondence between the observed genetic population structure and previously proposed taxonomic classification of subspecies (based on the geographic separation and surveys of morphological variation), we conclude that the nominal subspecies surveyed in this study do not warrant synonymy, as has been proposed for Z. h. preblei, Z. h. campestris, and Z. h. intermedius.

  2. Genetics of longevity. data from the studies on Sicilian centenarians

    Directory of Open Access Journals (Sweden)

    Balistreri Carmela R

    2012-04-01

    Full Text Available Abstract The demographic and social changes of the past decades have determined improvements in public health and longevity. So, the number of centenarians is increasing as a worldwide phenomenon. Scientists have focused their attention on centenarians as optimal model to address the biological mechanisms of "successful and unsuccessful ageing". They are equipped to reach the extreme limits of human life span and, most importantly, to show relatively good health, being able to perform their routine daily life and to escape fatal age-related diseases, such as cardiovascular diseases and cancer. Thus, particular attention has been centered on their genetic background and immune system. In this review, we report our data gathered for over 10 years in Sicilian centenarians. Based on results obtained, we suggest longevity as the result of an optimal performance of immune system and an over-expression of anti-inflammatory sequence variants of immune/inflammatory genes. However, as well known, genetic, epigenetic, stochastic and environmental factors seem to have a crucial role in ageing and longevity. Epigenetics is associated with ageing, as demonstrated in many studies. In particular, ageing is associated with a global loss of methylation state. Thus, the aim of future studies will be to analyze the weight of epigenetic changes in ageing and longevity.

  3. Reading Comprehension and Working Memory's Executive Processes: An Intervention Study in Primary School Students

    Science.gov (United States)

    Garcia-Madruga, Juan A.; Elosua, Maria Rosa; Gil, Laura; Gomez-Veiga, Isabel; Vila, Jose Oscar; Orjales, Isabel; Contreras, Antonio; Rodriguez, Raquel; Melero, Maria Angeles; Duque, Gonzalo

    2013-01-01

    Reading comprehension is a highly demanding task that involves the simultaneous process of extracting and constructing meaning in which working memory's executive processes play a crucial role. In this article, a training program on working memory's executive processes to improve reading comprehension is presented and empirically tested in two…

  4. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    Science.gov (United States)

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  5. Recommendations for using standardised phenotypes in genetic association studies

    Directory of Open Access Journals (Sweden)

    Naylor Melissa G

    2009-07-01

    Full Text Available Abstract Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of interest (eg lung function, obesity. These phenotypes are appealing because they provide an easy mechanism for comparing subjects, although such standardisations may not be the best way to control for confounders and other covariates. We recommend adjusting raw or standardised phenotypes within the study population via regression. We illustrate through simulation that optimal power in both population- and family-based association tests is attained by using the residuals from within-study adjustment as the complex trait phenotype. An application of family-based association analysis of forced expiratory volume in one second, and obesity in the Childhood Asthma Management Program data, illustrates that power is maintained or increased when adjusted phenotype residuals are used instead of typical standardised quantitative phenotypes.

  6. Two early studies on learning theory and genetics.

    Science.gov (United States)

    Jones, Marshall B

    2003-11-01

    The debate between Iowa and California, Spencians and Tolmanians, over the nature of learning was one of the most protracted and all-involving controversies in the history of psychology. Spencians argued that learning consisted of stimulus-response connections and grew incrementally; Tolmanians that it was perceptual or cognitive and saltatory in nature. The debate was conducted largely on the basis of experiments with rats, with each side finding evidence in its own laboratories to support its views. As the debate was winding down, two studies were carried out that called attention to a possible genetic basis of the great debate. The two schools used different strains of rat and characteristically different experimental situations. The two studies, however, were difficult to access at the time and even more so since. The present paper recalls these two studies in condensed form and discusses their relevance to the great debate and to selected current concerns.

  7. Broca's area, sentence comprehension, and working memory: an fMRI study

    Directory of Open Access Journals (Sweden)

    Corianne Rogalsky

    2008-10-01

    Full Text Available The role of Broca's area in sentence processing remains controversial. According to one view, Broca's area is involved in processing a subcomponent of syntactic processing. Another view holds that it contributes to sentence processing via verbal working memory. Sub-regions of Broca's area have been identified that are more active during the processing of complex (object-relative clause sentences compared to simple (subject-relative clause sentences. The present study aimed to determine if this complexity effect can be accounted for in terms of the articulatory rehearsal component of verbal working memory.  In a behavioral experiment, subjects were asked to comprehend sentences during concurrent speech articulation which minimizes articulatory rehearsal as a resource for sentence comprehension. A finger-tapping task was used as a control concurrent task. Only the object-relative clause sentences were more difficult to comprehend during speech articulation than during the manual task, showing that articulatory rehearsal does contribute to sentence processing.  A second experiment used fMRI to document the brain regions underlying this effect.  Subjects judged the plausibility of sentences during speech articulation, a finger-tapping task, or without a concurrent task. In the absence of a secondary task, Broca's area (pars triangularis and pars opercularis demonstrated an increase in activity as a function of syntactic complexity. However, during concurrent speech articulation (but not finger-tapping this complexity effect was eliminated in the pars opercularis suggesting that this region supports sentence comprehension via its role in articulatory rehearsal.  Activity in the pars triangularis was modulated by the finger-tapping task, but not the speech articulation task.

  8. Approximations to the distribution of a test statistic in covariance structure analysis: A comprehensive study.

    Science.gov (United States)

    Wu, Hao

    2018-05-01

    In structural equation modelling (SEM), a robust adjustment to the test statistic or to its reference distribution is needed when its null distribution deviates from a χ 2 distribution, which usually arises when data do not follow a multivariate normal distribution. Unfortunately, existing studies on this issue typically focus on only a few methods and neglect the majority of alternative methods in statistics. Existing simulation studies typically consider only non-normal distributions of data that either satisfy asymptotic robustness or lead to an asymptotic scaled χ 2 distribution. In this work we conduct a comprehensive study that involves both typical methods in SEM and less well-known methods from the statistics literature. We also propose the use of several novel non-normal data distributions that are qualitatively different from the non-normal distributions widely used in existing studies. We found that several under-studied methods give the best performance under specific conditions, but the Satorra-Bentler method remains the most viable method for most situations. © 2017 The British Psychological Society.

  9. [The study of tomato fruit weight quantitative trait locus and its application in genetics teaching].

    Science.gov (United States)

    Wang, Hai-yan

    2015-08-01

    The classical research cases, which have greatly promoted the development of genetics in history, can be combined with the content of courses in genetics teaching to train students' ability of scientific thinking and genetic analysis. The localization and clone of gene controlling tomato fruit weight is a pioneer work in quantitative trait locus (QTL) studies and represents a complete process of QTL research in plants. Application of this integrated case in genetics teaching, which showed a wonderful process of scientific discovery and the fascination of genetic research, has inspired students' interest in genetics and achieved a good teaching effect.

  10. International benchmarking of specialty hospitals. A series of case studies on comprehensive cancer centres

    Science.gov (United States)

    2010-01-01

    Background Benchmarking is one of the methods used in business that is applied to hospitals to improve the management of their operations. International comparison between hospitals can explain performance differences. As there is a trend towards specialization of hospitals, this study examines the benchmarking process and the success factors of benchmarking in international specialized cancer centres. Methods Three independent international benchmarking studies on operations management in cancer centres were conducted. The first study included three comprehensive cancer centres (CCC), three chemotherapy day units (CDU) were involved in the second study and four radiotherapy departments were included in the final study. Per multiple case study a research protocol was used to structure the benchmarking process. After reviewing the multiple case studies, the resulting description was used to study the research objectives. Results We adapted and evaluated existing benchmarking processes through formalizing stakeholder involvement and verifying the comparability of the partners. We also devised a framework to structure the indicators to produce a coherent indicator set and better improvement suggestions. Evaluating the feasibility of benchmarking as a tool to improve hospital processes led to mixed results. Case study 1 resulted in general recommendations for the organizations involved. In case study 2, the combination of benchmarking and lean management led in one CDU to a 24% increase in bed utilization and a 12% increase in productivity. Three radiotherapy departments of case study 3, were considering implementing the recommendations. Additionally, success factors, such as a well-defined and small project scope, partner selection based on clear criteria, stakeholder involvement, simple and well-structured indicators, analysis of both the process and its results and, adapt the identified better working methods to the own setting, were found. Conclusions The improved

  11. Modeling AEC—New Approaches to Study Rare Genetic Disorders

    Science.gov (United States)

    Koch, Peter J.; Dinella, Jason; Fete, Mary; Siegfried, Elaine C.; Koster, Maranke I.

    2015-01-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients’ skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient’s own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. PMID:24665072

  12. Decreasing scoring errors on Wechsler Scale Vocabulary, Comprehension, and Similarities subtests: a preliminary study.

    Science.gov (United States)

    Linger, Michele L; Ray, Glen E; Zachar, Peter; Underhill, Andrea T; LoBello, Steven G

    2007-10-01

    Studies of graduate students learning to administer the Wechsler scales have generally shown that training is not associated with the development of scoring proficiency. Many studies report on the reduction of aggregated administration and scoring errors, a strategy that does not highlight the reduction of errors on subtests identified as most prone to error. This study evaluated the development of scoring proficiency specifically on the Wechsler (WISC-IV and WAIS-III) Vocabulary, Comprehension, and Similarities subtests during training by comparing a set of 'early test administrations' to 'later test administrations.' Twelve graduate students enrolled in an intelligence-testing course participated in the study. Scoring errors (e.g., incorrect point assignment) were evaluated on the students' actual practice administration test protocols. Errors on all three subtests declined significantly when scoring errors on 'early' sets of Wechsler scales were compared to those made on 'later' sets. However, correcting these subtest scoring errors did not cause significant changes in subtest scaled scores. Implications for clinical instruction and future research are discussed.

  13. Study of the comprehension of the scientific method by members of a university health research laboratory.

    Science.gov (United States)

    Burlamaque-Neto, A C; Santos, G R; Lisbôa, L M; Goldim, J R; Machado, C L B; Matte, U; Giugliani, R

    2012-02-01

    In Brazil, scientific research is carried out mainly at universities, where professors coordinate research projects with the active participation of undergraduate and graduate students. However, there is no formal program for the teaching/learning of the scientific method. The objective of the present study was to evaluate the comprehension of the scientific method by students of health sciences who participate in scientific projects in an academic research laboratory. An observational descriptive cross-sectional study was conducted using Edgar Morin complexity as theoretical reference. In a semi-structured interview, students were asked to solve an abstract logical puzzle - TanGram. The collected data were analyzed using the hermeneutic-dialectic analysis method proposed by Minayo and discussed in terms of the theoretical reference of complexity. The students' concept of the scientific method is limited to participation in projects, stressing the execution of practical procedures as opposed to scientific thinking. The solving of the TanGram puzzle revealed that the students had difficulties in understanding questions and activities focused on subjects and their processes. Objective answers, even when dealing with personal issues, were also reflected on the students' opinions about the characteristics of a successful researcher. Students' difficulties concerning these issues may affect their scientific performance and result in poorly designed experiments. This is a preliminary study that should be extended to other centers of scientific research.

  14. A comprehensive study on Li-ion battery nail penetrations and the possible solutions

    International Nuclear Information System (INIS)

    Zhao, Rui; Liu, Jie; Gu, Junjie

    2017-01-01

    Li-ion batteries are the state-of-the-art power sources for portable electronics, electric vehicles, and aerospace applications. The safety issues regarding Li-ion batteries arouse particular attentions after several accidents reported in recent years. Among various abuse conditions, nail penetration is one of the most dangerous for Li-ion batteries due to the accumulated heat generation, which could give rise to the thermal runaway and could damage entire energy storage system. In this paper, an electrochemical-thermal coupling model is developed to study the nail penetration process of Li-ion batteries. By introducing joule heating at the nail location, the model shows good agreement with the testing results. With this verified model, a comprehensive parametric study is carried out to investigate the effects of battery capacity, internal resistance, and nail diameter on the electrochemical and thermal behaviors of Li-ion batteries during the penetration processes. Furthermore, three possible solutions to prevent the thermal runaway, which includes decreasing the state of charge, improving heat dissipation, and increasing contact resistance, are compared and discussed in detail based on a series of simulations. - Highlights: • A coupling model is developed to simulate Li-ion battery nail penetrations. • A contact resistance – contact area curve is plotted based on experiments. • Simulation results show good agreements with nail tests. • The behaviors of Li-ion batteries in different penetration scenarios are studied. • Possible strategies to prevent thermal runaway are investigated and discussed.

  15. A Pilot Study of Biomedical Text Comprehension using an Attention-Based Deep Neural Reader: Design and Experimental Analysis.

    Science.gov (United States)

    Kim, Seongsoon; Park, Donghyeon; Choi, Yonghwa; Lee, Kyubum; Kim, Byounggun; Jeon, Minji; Kim, Jihye; Tan, Aik Choon; Kang, Jaewoo

    2018-01-05

    With the development of artificial intelligence (AI) technology centered on deep-learning, the computer has evolved to a point where it can read a given text and answer a question based on the context of the text. Such a specific task is known as the task of machine comprehension. Existing machine comprehension tasks mostly use datasets of general texts, such as news articles or elementary school-level storybooks. However, no attempt has been made to determine whether an up-to-date deep learning-based machine comprehension model can also process scientific literature containing expert-level knowledge, especially in the biomedical domain. This study aims to investigate whether a machine comprehension model can process biomedical articles as well as general texts. Since there is no dataset for the biomedical literature comprehension task, our work includes generating a large-scale question answering dataset using PubMed and manually evaluating the generated dataset. We present an attention-based deep neural model tailored to the biomedical domain. To further enhance the performance of our model, we used a pretrained word vector and biomedical entity type embedding. We also developed an ensemble method of combining the results of several independent models to reduce the variance of the answers from the models. The experimental results showed that our proposed deep neural network model outperformed the baseline model by more than 7% on the new dataset. We also evaluated human performance on the new dataset. The human evaluation result showed that our deep neural model outperformed humans in comprehension by 22% on average. In this work, we introduced a new task of machine comprehension in the biomedical domain using a deep neural model. Since there was no large-scale dataset for training deep neural models in the biomedical domain, we created the new cloze-style datasets Biomedical Knowledge Comprehension Title (BMKC_T) and Biomedical Knowledge Comprehension Last

  16. Succinate overproduction: A case study of computational strain design using a comprehensive Escherichia coli kinetic model

    Directory of Open Access Journals (Sweden)

    Ali eKhodayari

    2015-01-01

    Full Text Available Computational strain design prediction accuracy has been the focus for many recent efforts through the selective integration of kinetic information into metabolic models. In general, kinetic model prediction quality is determined by the range and scope of genetic and/or environmental perturbations used during parameterization. In this effort, we apply the k-OptForce procedure on a kinetic model of E. coli core metabolism constructed using the Ensemble Modeling (EM method and parameterized using multiple mutant strains data under aerobic respiration with glucose as the carbon source. Minimal interventions are identified that improve succinate yield under both aerobic and anaerobic conditions to test the fidelity of model predictions under both genetic and environmental perturbations. Under aerobic condition, k-OptForce identifies interventions that match existing experimental strategies pointing at a number of unexplored flux redirections such as routing glyoxylate flux through the glycerate metabolism to improve succinate yield. Many of the identified interventions rely on the kinetic descriptions and would not be discoverable by a purely stoichiometric description. In contrast, under fermentative (anaerobic conditions, k-OptForce fails to identify key interventions including up-regulation of anaplerotic reactions and elimination of competitive fermentative products. This is due to the fact that the pathways activated under anaerobic conditions were not properly parameterized as only aerobic flux data were used in the model construction. This study shed light on the importance of condition-specific model parameterization and provides insight onto how to augment kinetic models so as to correctly respond to multiple environmental perturbations.

  17. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

    Science.gov (United States)

    Zimmerman, Rebekah S; Jalas, Chaim; Tao, Xin; Fedick, Anastasia M; Kim, Julia G; Pepe, Russell J; Northrop, Lesley E; Scott, Richard T; Treff, Nathan R

    2016-02-01

    To develop a novel and robust protocol for multifactorial preimplantation genetic testing of trophectoderm biopsies using quantitative polymerase chain reaction (qPCR). Prospective and blinded. Not applicable. Couples indicated for preimplantation genetic diagnosis (PGD). None. Allele dropout (ADO) and failed amplification rate, genotyping consistency, chromosome screening success rate, and clinical outcomes of qPCR-based screening. The ADO frequency on a single cell from a fibroblast cell line was 1.64% (18/1,096). When two or more cells were tested, the ADO frequency dropped to 0.02% (1/4,426). The rate of amplification failure was 1.38% (55/4,000) overall, with 2.5% (20/800) for single cells and 1.09% (35/3,200) for samples that had two or more cells. Among 152 embryos tested in 17 cases by qPCR-based PGD and CCS, 100% were successfully given a diagnosis, with 0% ADO or amplification failure. Genotyping consistency with reference laboratory results was >99%. Another 304 embryos from 43 cases were included in the clinical application of qPCR-based PGD and CCS, for which 99.7% (303/304) of the embryos were given a definitive diagnosis, with only 0.3% (1/304) having an inconclusive result owing to recombination. In patients receiving a transfer with follow-up, the pregnancy rate was 82% (27/33). This study demonstrates that the use of qPCR for PGD testing delivers consistent and more reliable results than existing methods and that single gene disorder PGD can be run concurrently with CCS without the need for additional embryo biopsy or whole genome amplification. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  18. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    influences on dietary intake in adults and the interplay between diet, genes and obesity. The focus of the thesis was to investigate the genetic and environmental influence on habitual diet and obesity as well as the association between habitual diet and anthropometry. The thesis is based on structural....... The study showed, however, consistent positive associations between intake of sugar-sweetened soft drink and BMI, FMI and waist circumference in men. Gene-environment interaction models showed that while high physical activity is associated with a down-regulation of genes predisposing to obesity......Obesity has become a major health concern due to the increased risk of co-morbidities, resulting in decreased quality of life, stigmatization, reduced working ability and early death. This causes a great challenge for the health care systems and results in increased direct costs related...

  19. Tradescantia in studies of genetic effects of low level radiation

    International Nuclear Information System (INIS)

    Yamashita, Atsushi

    1976-01-01

    Tradescantia in studies on genetic effects of low level radiation is briefly introduced. Radiosensitivity, method of screening stamen hair mutation, materials in current uses, spontaneous mutation rate, and modifying factors are refered. For stamen hair mutation b values in exponential model were lower in irradiation with low dose rate at high environmental temperature. The dose response curves under these modifying conditions, when extrapolated to low dose range, well fit to the line which was obtained by Sparrow's experiment of low level irradiation. In chronic irradiation, the frequency of stamen hair mutation reaches to the constant value after 17 days from the start of irradiation, and is as much as 4 times higher than the peak value in one day irradiation at the same exposure rate. The spontaneous mutation rate of KU-7 varied with temperature. The increase with 1 0 C increment of mean temperature was -0.04%. Uses of Tradescantia in monitoring the environmental radiation is discussed. (auth.)

  20. Testing audiovisual comprehension tasks with questions embedded in videos as subtitles: a pilot multimethod study

    OpenAIRE

    Casañ Núñez, Juan Carlos

    2017-01-01

    [EN] Listening, watching, reading and writing simultaneously in a foreign language is very complex. This paper is part of wider research which explores the use of audiovisual comprehension questions imprinted in the video image in the form of subtitles and synchronized with the relevant fragments for the purpose of language learning and testing. Compared to viewings where the comprehension activity is available only on paper, this innovative methodology may provide some benefits. Among them, ...

  1. Development and validation of a score for evaluating comprehensive stroke care capabilities: J-ASPECT Study

    OpenAIRE

    Kada, Akiko; Nishimura, Kunihiro; Nakagawara, Jyoji; Ogasawara, Kuniaki; Ono, Junichi; Shiokawa, Yoshiaki; Aruga, Toru; Miyachi, Shigeru; Nagata, Izumi; Toyoda, Kazunori; Matsuda, Shinya; Suzuki, Akifumi; Kataoka, Hiroharu; Nakamura, Fumiaki; Kamitani, Satoru

    2017-01-01

    Background Although the Brain Attack Coalition recommended establishing centers of comprehensive care for stroke and cerebrovascular disease patients, a scoring system for such centers was lacking. We created and validated a comprehensive stroke center (CSC) score, adapted to Japanese circumstances. Methods Of the selected 1369 certified training institutions in Japan, 749 completed an acute stroke care capabilities survey. Hospital performance was determined using a 25-item score, evaluating...

  2. Comprehensive Longitudinal Study Challenges the Existence of Neonatal Imitation in Humans.

    Science.gov (United States)

    Oostenbroek, Janine; Suddendorf, Thomas; Nielsen, Mark; Redshaw, Jonathan; Kennedy-Costantini, Siobhan; Davis, Jacqueline; Clark, Sally; Slaughter, Virginia

    2016-05-23

    Human children copy others' actions with high fidelity, supporting early cultural learning and assisting in the development and maintenance of behavioral traditions [1]. Imitation has long been assumed to occur from birth [2-4], with influential theories (e.g., [5-7]) placing an innate imitation module at the foundation of social cognition (potentially underpinned by a mirror neuron system [8, 9]). Yet, the very phenomenon of neonatal imitation has remained controversial. Empirical support is mixed and interpretations are varied [10-16], potentially because previous investigations have relied heavily on cross-sectional designs with relatively small samples and with limited controls [17, 18]. Here, we report surprising results from the most comprehensive longitudinal study of neonatal imitation to date. We presented infants (n = 106) with nine social and two non-social models and scored their responses at 1, 3, 6, and 9 weeks of age. Longitudinal analyses indicated that the infants did not imitate any of the models, as they were just as likely to produce the gestures in response to control models as they were to matching models. Previous positive findings were replicated in limited cross-sections of the data, but the overall analyses confirmed these findings to be mere artifacts of restricted comparison conditions. Our results undermine the idea of an innate imitation module and suggest that earlier studies reporting neonatal imitation were methodologically limited. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Comprehensive studies on the interactions between chitosan nanoparticles and some live cells

    International Nuclear Information System (INIS)

    Zheng Aiping; Liu Huixue; Yuan Lan; Meng Meng; Wang Jiancheng; Zhang Xuan; Zhang Qiang

    2011-01-01

    As more and more oral formulations of nanoparticles are used in clinical contexts, a comprehensive study on the mechanisms of interaction between polymer nanoparticles and live cells seems merited. Such a study was conducted and the results were compared to the polymer itself in order to demonstrate different kinds of effects that are brought into the cell by polymer and its nanoparticles, especially the effects on the biomembrane. Several techniques, including surface plasmon resonance (SPR), Fourier transformed infrared spectroscopy (FTIR), Raman spectroscopy, fluorescence polarization spectroscopy (FP), flow cytometry (FCM) with quantitative analysis, and confocal images with antibody staining were employed toward this end. The cytotoxicity in vitro was also evaluated. Chitosan (CS), a polycationic polymer, was used to prepare the nanoparticles. We demonstrate that chitosan nanoparticles (CS-NP) induce strong alterations in the distribution of membrane proteins, fluidity of membrane lipids, and general membrane structure. Furthermore, the uptake of CS-NP into Caco-2 cells was found to have a similar mechanism to that of CS molecules, but the differences in degree were noted. These results indicate that positive charge and nanoscale size were the factors that most significantly affected the interactions between the nanoparticles of polycationic polymers and live cells. However, no difference in cytotoxicity toward the Caco-2 cells was found between CS and CS-NP. This supports the idea that CS-NP is an effective and safe carrier for oral drug delivery.

  4. Surgeons' physical discomfort and symptoms during robotic surgery: a comprehensive ergonomic survey study.

    Science.gov (United States)

    Lee, G I; Lee, M R; Green, I; Allaf, M; Marohn, M R

    2017-04-01

    It is commonly believed that robotic surgery systems provide surgeons with an ergonomically sound work environment; however, the actual experience of surgeons practicing robotic surgery (RS) has not been thoroughly researched. In this ergonomics survey study, we investigated surgeons' physical symptom reports and their association with factors including demographics, specialties, and robotic systems. Four hundred and thirty-two surgeons regularly practicing RS completed this comprehensive survey comprising 20 questions in four categories: demographics, systems, ergonomics, and physical symptoms. Chi-square and multinomial logistic regression analyses were used for statistical analysis. Two hundred and thirty-six surgeons (56.1 %) reported physical symptoms or discomfort. Among those symptoms, neck stiffness, finger, and eye fatigues were the most common. With the newest robot, eye symptom rate was considerably reduced, while neck and finger symptoms did not improve significantly. A high rate of lower back stiffness was correlated with higher annual robotic case volume, and eye symptoms were more common with longer years practicing robotic surgery (p ergonomic settings reported lower symptom report rates. Symptoms were not correlated with age and gender. Although RS provides relatively better ergonomics, this study demonstrates that 56.1 % of regularly practicing robotic surgeons still experience related physical symptoms or discomfort. In addition to system improvement, surgeon education in optimizing the ergonomic settings may be necessary to maximize the ergonomic benefits in RS.

  5. Comprehensive adsorption studies of doxycycline and ciprofloxacin antibiotics by biochars prepared at different temperatures

    Science.gov (United States)

    Zeng, Zhi-wei; Tan, Xiao-fei; Liu, Yun-guo; Tian, Si-rong; Zeng, Guang-ming; Jiang, Lu-hua; Liu, Shao-bo; Li, Jiang; Liu, Ni; Yin, Zhi-hong

    2018-03-01

    This paper comparatively investigated the removal efficiency and mechanisms of rice straw biochars prepared under three pyrolytic temperatures for two kinds of tetracycline and quinolone antibiotics (doxycycline and ciprofloxacin). The influencing factors of antibiotic adsorption (including biochar dosage, pH, background electrolytes, humic acid, initial antibiotics concentration, contact time, and temperature) were comprehensively studied. The results suggest that biochars produced at high-temperature (i.e., 700°C (BC700)), have higher adsorption capacity for the two antibiotics than low-temperature (i.e., 300-500°C) biochars (BC300 and BC500). Higher surface area gives rise to greater volume of micropores and mesopores, and higher graphitic surfaces of the BC700 contributed to its higher functionality. The maximum adsorption capacity was found to be in the following order: DOX > CIP. The π-π EDA interaction and hydrogen bonding might be the predominant adsorption mechanisms. Findings in this study highlight the important roles of high-temperature biochars in controlling the contamination of tetracycline and quinolone antibiotics in the environment.

  6. Comprehensive Adsorption Studies of Doxycycline and Ciprofloxacin Antibiotics by Biochars Prepared at Different Temperatures

    Science.gov (United States)

    Zeng, Zhi-wei; Tan, Xiao-fei; Liu, Yun-guo; Tian, Si-rong; Zeng, Guang-ming; Jiang, Lu-hua; Liu, Shao-bo; Li, Jiang; Liu, Ni; Yin, Zhi-hong

    2018-01-01

    This paper comparatively investigated the removal efficiency and mechanisms of rice straw biochars prepared under three pyrolytic temperatures for two kinds of tetracycline and quinolone antibiotics (doxycycline and ciprofloxacin). The influencing factors of antibiotic adsorption (including biochar dosage, pH, background electrolytes, humic acid, initial antibiotics concentration, contact time, and temperature) were comprehensively studied. The results suggest that biochars produced at high-temperature [i.e., 700°C (BC700)], have higher adsorption capacity for the two antibiotics than low-temperature (i.e., 300–500°C) biochars (BC300 and BC500). Higher surface area gives rise to greater volume of micropores and mesopores, and higher graphitic surfaces of the BC700 contributed to its higher functionality. The maximum adsorption capacity was found to be in the following order: DOX > CIP. The π-π EDA interaction and hydrogen bonding might be the predominant adsorption mechanisms. Findings in this study highlight the important roles of high-temperature biochars in controlling the contamination of tetracycline and quinolone antibiotics in the environment. PMID:29637067

  7. Comprehensive maternal characteristics associated with birth weight: Bayesian modeling in a prospective cohort study from Iran

    Directory of Open Access Journals (Sweden)

    Marjan Mansourian

    2017-01-01

    Full Text Available Background: In this study, we aimed to determine comprehensive maternal characteristics associated with birth weight using Bayesian modeling. Materials and Methods: A total of 526 participants were included in this prospective study. Nutritional status, supplement consumption during the pregnancy, demographic and socioeconomic characteristics, anthropometric measures, physical activity, and pregnancy outcomes were considered as effective variables on the birth weight. Bayesian approach of complex statistical models using Markov chain Monte Carlo approach was used for modeling the data considering the real distribution of the response variable. Results: There was strong positive correlation between infant birth weight and the maternal intake of Vitamin C, folic acid, Vitamin B3, Vitamin A, selenium, calcium, iron, phosphorus, potassium, magnesium as micronutrients, and fiber and protein as macronutrients based on the 95% high posterior density regions for parameters in the Bayesian model. None of the maternal characteristics had statistical association with birth weight. Conclusion: Higher maternal macro- and micro-nutrient intake during pregnancy was associated with a lower risk of delivering low birth weight infants. These findings support recommendations to expand intake of nutrients during pregnancy to high level.

  8. Sequence imputation of HPV16 genomes for genetic association studies.

    Directory of Open Access Journals (Sweden)

    Benjamin Smith

    Full Text Available Human Papillomavirus type 16 (HPV16 causes over half of all cervical cancer and some HPV16 variants are more oncogenic than others. The genetic basis for the extraordinary oncogenic properties of HPV16 compared to other HPVs is unknown. In addition, we neither know which nucleotides vary across and within HPV types and lineages, nor which of the single nucleotide polymorphisms (SNPs determine oncogenicity.A reference set of 62 HPV16 complete genome sequences was established and used to examine patterns of evolutionary relatedness amongst variants using a pairwise identity heatmap and HPV16 phylogeny. A BLAST-based algorithm was developed to impute complete genome data from partial sequence information using the reference database. To interrogate the oncogenic risk of determined and imputed HPV16 SNPs, odds-ratios for each SNP were calculated in a case-control viral genome-wide association study (VWAS using biopsy confirmed high-grade cervix neoplasia and self-limited HPV16 infections from Guanacaste, Costa Rica.HPV16 variants display evolutionarily stable lineages that contain conserved diagnostic SNPs. The imputation algorithm indicated that an average of 97.5±1.03% of SNPs could be accurately imputed. The VWAS revealed specific HPV16 viral SNPs associated with variant lineages and elevated odds ratios; however, individual causal SNPs could not be distinguished with certainty due to the nature of HPV evolution.Conserved and lineage-specific SNPs can be imputed with a high degree of accuracy from limited viral polymorphic data due to the lack of recombination and the stochastic mechanism of variation accumulation in the HPV genome. However, to determine the role of novel variants or non-lineage-specific SNPs by VWAS will require direct sequence analysis. The investigation of patterns of genetic variation and the identification of diagnostic SNPs for lineages of HPV16 variants provides a valuable resource for future studies of HPV16

  9. Tools for Genetic Studies in Experimental Populations of Polyploids

    Directory of Open Access Journals (Sweden)

    Peter M. Bourke

    2018-04-01

    Full Text Available Polyploid organisms carry more than two copies of each chromosome, a condition rarely tolerated in animals but which occurs relatively frequently in the plant kingdom. One of the principal challenges faced by polyploid organisms is to evolve stable meiotic mechanisms to faithfully transmit genetic information to the next generation upon which the study of inheritance is based. In this review we look at the tools available to the research community to better understand polyploid inheritance, many of which have only recently been developed. Most of these tools are intended for experimental populations (rather than natural populations, facilitating genomics-assisted crop improvement and plant breeding. This is hardly surprising given that a large proportion of domesticated plant species are polyploid. We focus on three main areas: (1 polyploid genotyping; (2 genetic and physical mapping; and (3 quantitative trait analysis and genomic selection. We also briefly review some miscellaneous topics such as the mode of inheritance and the availability of polyploid simulation software. The current polyploid analytic toolbox includes software for assigning marker genotypes (and in particular, estimating the dosage of marker alleles in the heterozygous condition, establishing chromosome-scale linkage phase among marker alleles, constructing (short-range haplotypes, generating linkage maps, performing genome-wide association studies (GWAS and quantitative trait locus (QTL analyses, and simulating polyploid populations. These tools can also help elucidate the mode of inheritance (disomic, polysomic or a mixture of both as in segmental allopolyploids or reveal whether double reduction and multivalent chromosomal pairing occur. An increasing number of polyploids (or associated diploids are being sequenced, leading to publicly available reference genome assemblies. Much work remains in order to keep pace with developments in genomic technologies. However, such

  10. Tools for Genetic Studies in Experimental Populations of Polyploids.

    Science.gov (United States)

    Bourke, Peter M; Voorrips, Roeland E; Visser, Richard G F; Maliepaard, Chris

    2018-01-01

    Polyploid organisms carry more than two copies of each chromosome, a condition rarely tolerated in animals but which occurs relatively frequently in the plant kingdom. One of the principal challenges faced by polyploid organisms is to evolve stable meiotic mechanisms to faithfully transmit genetic information to the next generation upon which the study of inheritance is based. In this review we look at the tools available to the research community to better understand polyploid inheritance, many of which have only recently been developed. Most of these tools are intended for experimental populations (rather than natural populations), facilitating genomics-assisted crop improvement and plant breeding. This is hardly surprising given that a large proportion of domesticated plant species are polyploid. We focus on three main areas: (1) polyploid genotyping; (2) genetic and physical mapping; and (3) quantitative trait analysis and genomic selection. We also briefly review some miscellaneous topics such as the mode of inheritance and the availability of polyploid simulation software. The current polyploid analytic toolbox includes software for assigning marker genotypes (and in particular, estimating the dosage of marker alleles in the heterozygous condition), establishing chromosome-scale linkage phase among marker alleles, constructing (short-range) haplotypes, generating linkage maps, performing genome-wide association studies (GWAS) and quantitative trait locus (QTL) analyses, and simulating polyploid populations. These tools can also help elucidate the mode of inheritance (disomic, polysomic or a mixture of both as in segmental allopolyploids) or reveal whether double reduction and multivalent chromosomal pairing occur. An increasing number of polyploids (or associated diploids) are being sequenced, leading to publicly available reference genome assemblies. Much work remains in order to keep pace with developments in genomic technologies. However, such technologies

  11. Applying Language Learning Strategies in the Foreign Language Listening Comprehension: A Study of Islamic Senior High School Students

    Directory of Open Access Journals (Sweden)

    DIAN PERTIWI

    2018-05-01

    Full Text Available The main purpose of the present study was to empirically investigate the possible correlation and the influence between students’ language learning strategies and listening comprehension. The population of this study was 138 eleventh grade students of Islamic Senior High School number 2 Palembang. The sample was all of eleventh grade students in social class. The total number of the student was 138. Since 16 students were absent, so the sample consisted of 122 students. To collect the data in order to measure the students’ language learning strategies and listening comprehension, SILL (strategy inventory in learning language and listening comprehension test from TOEFL Junior test were used in this study. The Pearson correlation was used in analyzing the data using SPSS 16. The result from questionnaire showed that most of the students used metacognitive strategies were in medium level and sometimes used language learning strategies. The result from listening comprehension test showed that most of the students were in very poor level. Furthermore, there was no significant correlation between the two variables that can be seen from the correlation coefficient or r-obtained (-.011 was lower than r-table (0.1779 then the level of probability or sig. value (.902 was higher than .05. From the result, it can be concluded that there was no significant correlation between language learning strategies and listening comprehension of eleventh grade students of Islamic Senior High School number 2 Palembang.

  12. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

    Science.gov (United States)

    Nishioka, Kenya; Kefi, Mounir; Jasinska-Myga, Barbara; Wider, Christian; Vilariño-Güell, Carles; Ross, Owen A; Heckman, Michael G; Middleton, Lefkos T; Ishihara-Paul, Lianna; Gibson, Rachel A; Amouri, Rim; Ben Yahmed, Samia; Ben Sassi, Samia; Zouari, Mourad; El Euch, Ghada; Farrer, Matthew J; Hentati, Faycal

    2010-04-01

    Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 (LRRK2), PTEN induced kinase 1 (PINK1) and parkin (PRKN). Clinical features were compared between patients with genetically undefined PD (n=107) and those with LRRK2 (n=73) and PINK1 (n=42) mutations using regression analyses adjusted for gender, age of onset and disease duration. PRKN cases (n=9) were too few for meaningful statistical analysis. In comparison with genetically undefined patients, LRRK2 mutation carriers had more severe motor symptoms (median Unified Parkinson's Disease Rating Scale scores approximately 1.6 times higher, pundefined patients. As expected, PINK1 patients had younger ages and ages at disease onset, and a longer disease duration compared with LRRK2 mutation carriers and genetically undefined patients. Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice. As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies.

  13. A review of genome-wide approaches to study the genetic basis for spermatogenic defects.

    Science.gov (United States)

    Aston, Kenneth I; Conrad, Donald F

    2013-01-01

    Rapidly advancing tools for genetic analysis on a genome-wide scale have been instrumental in identifying the genetic bases for many complex diseases. About half of male infertility cases are of unknown etiology in spite of tremendous efforts to characterize the genetic basis for the disorder. Advancing our understanding of the genetic basis for male infertility will require the application of established and emerging genomic tools. This chapter introduces many of the tools available for genetic studies on a genome-wide scale along with principles of study design and data analysis.

  14. Biochemical and molecular genetic studies on some cyanobacterial isolates

    International Nuclear Information System (INIS)

    Kamal, E.A.R.; Ebrahim, S.A.A.

    2011-01-01

    In the present study, the isolation and purification of a set of Cyanobacteria strains belonging to genus Oscillatoria was undertaken, followed by the analyses of phylogenetic relationships using different biochemical and molecular genetic techniques (SOS-PAGE and RAPO-PCR). A total of 45 protein bands were observed within the studied Osci/latoria isolates by SOS-PAGE (only three unique bands, eight monomorphic bands and 37 polymorphic bands). On the other hand, extracted ONA from isolates was used to identify the molecular fingerprints. A sum of 94 polymorphic bands was generated by these primers in the Ocsi/laloria genotypes under study. A total of 20 unique bands were identified out of the polymorphic ones. These unique bands were used to discriminate among the studied Ocsi/latoria isolates. Most isolates of Ocsi/latoria genotypes were discriminated by one or more unique bands. Numerical taxonomic using 45 protein attributes of 19 isolates and RAPO markers on five isolates. Two methods -Clustering (UPGMA) and Principal Component Analysis (PCA) were used for these analyses. The similarities and clusters produced between the studied isolates were discussed.

  15. Biochemical and molecular genetic studies on some cyanobacterial isolates

    Energy Technology Data Exchange (ETDEWEB)

    Kamal, E A.R. [Umm Al-Qura University, Makkah (Saudi Arabia). Dept. of Biology; Ebrahim, S A.A. [Ain Sham University, Cairo (Egypt). Dept. of Cytogenetic

    2011-11-15

    In the present study, the isolation and purification of a set of Cyanobacteria strains belonging to genus Oscillatoria was undertaken, followed by the analyses of phylogenetic relationships using different biochemical and molecular genetic techniques (SOS-PAGE and RAPO-PCR). A total of 45 protein bands were observed within the studied Osci/latoria isolates by SOS-PAGE (only three unique bands, eight monomorphic bands and 37 polymorphic bands). On the other hand, extracted ONA from isolates was used to identify the molecular fingerprints. A sum of 94 polymorphic bands was generated by these primers in the Ocsi/laloria genotypes under study. A total of 20 unique bands were identified out of the polymorphic ones. These unique bands were used to discriminate among the studied Ocsi/latoria isolates. Most isolates of Ocsi/latoria genotypes were discriminated by one or more unique bands. Numerical taxonomic using 45 protein attributes of 19 isolates and RAPO markers on five isolates. Two methods -Clustering (UPGMA) and Principal Component Analysis (PCA) were used for these analyses. The similarities and clusters produced between the studied isolates were discussed.

  16. Risk factors for Alzheimer's disease : a genetic-epidemiologic study

    NARCIS (Netherlands)

    C.M. van Duijn (Cornelia)

    1992-01-01

    textabstractThe work presented in this thesis has been motivated by the Jack of knowledge of risk factors for Alzheimer's disease. It has been long recognised that genetic factors are implicated, in particular in early-onset Alzheimer's disease.4 But to what extent are genetic factors involved?

  17. Breeding technique of Anastrepha fraterculus (Wied.) for genetic studies

    International Nuclear Information System (INIS)

    Manso, F.

    1999-01-01

    Various samples of Anastrepha fraterculus from different areas in Argentina were obtained to develop artificial breeding in the laboratory. Based on a modification of Salles's method, an improved artificial rearing of the species was developed with satisfactory results for genetic analysis. The advances made will contribute towards the search for genetic mechanisms for control. (author)

  18. Genetic diversity studies of Kherigarh cattle based on microsatellite ...

    Indian Academy of Sciences (India)

    agricultural plant species, most or all genetic diversity in live- stock exists within ..... African cattle breeds (0.506–0.697; Ibeagha-Awemu et al. 2004). However .... relationships among populations of Asian goats (Capra hircus). J. Anim. Breed. ... 120,. 73–87. Kim K. S., Yeo J. S. and Choi C. B. 2002 Genetic diversity of north-.

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

    Science.gov (United States)

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

    2009-01-01

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

  20. Genetic variability and heritability studies of some reproductive traits ...

    African Journals Online (AJOL)

    GRACE

    2006-07-03

    Jul 3, 2006 ... The success of most crop improvement programs largely depends upon the genetic variability and the heritability of desirable traits. The magnitude and type of genetic variability help the breeder to determine the selection criteria and breeding schemes to be used for improvement purposes. A screen.

  1. Genetic diversity and bottleneck studies in the Marwari horse breed

    Indian Academy of Sciences (India)

    Genetic diversity within the Marwari breed of horses was evaluated using 26 different microsatellite pairs with 48 DNA samples from unrelated horses. This molecular characterisation was undertaken to evaluate the problem of genetic bottlenecks also, if any, in this breed. The estimated mean (± s.e.) allelic diversity was 5.9 ...

  2. Studies on Monitoring and Tracking Genetic Resources: An Executive Summary

    DEFF Research Database (Denmark)

    Garrity, GM; Thompson, LM; Ussery, David

    2009-01-01

    The principles underlying fair and equitable sharing of benefits derived from the utilization of genetic resources are set out in Article 15 of the UN Convention on Biological Diversity, which stipulate that access to genetic resources is subject to the prior informed consent of the country where...

  3. Study on genetic diversity in Pakistani wheat varieties using simple ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-09-01

    Sep 1, 2009 ... Common wheat (Triticum aestivum L.) is a grass species, cultivated world wide. Globally, it is ... A high degree of genetic polymorphism was observed among the wheat varieties with average ... cold, heat, soil salinization and water logging and (ii) ... and to find genetically most diverse genotypes of wheat.

  4. [Genetic, epidemiologic and clinical study of familial prostate cancer].

    Science.gov (United States)

    Valéri, Antoine

    2002-01-01

    Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

  5. Study of secondhand smoke levels pre and post implementation of the comprehensive smoking ban in Mumbai

    Directory of Open Access Journals (Sweden)

    Deshpande Aditi

    2010-01-01

    Full Text Available Objectives: This research was undertaken with the aim of assessing the indoor air quality in popular hospitality venues, as also to evaluate the effectiveness of the nationwide comprehensive public smoking ban. The analysis was split into two halves - baseline study taken up prior to implementation of the said ban on 2 nd October 2008, and the follow-up study after it came into effect. Materials and Methods: Twenty-five venues including five restaurants, fourteen resto-bars, two hookah (smoking water-pipe cafes and four pubs were selected using a mix of random, convenience and purposeful sampling. Particulate matter (PM 2.5 measurements at these venues were made using TSI SidePak AM510 Personal Aerosol Monitor. Results: The average PM 2.5 level in venues where smoking was permitted prior to implementation of ban was found to be 669.95 ΅g/m 3 in the baseline study. Post ban, the average PM 2.5 level in same test venues reduced to 240.8 ΅g/m 3 . The hookah cafes were an exception as the average PM 2.5 levels exceeded the permissible limits before as well as post ban. Conclusion: The baseline study showed that the hospitality venues had hazardous levels of PM 2.5 particles arising from second-hand smoke prior to smoking ban. These decreased by a maximum of 64% after the law took effect. A substantial improvement in air quality at these venues post implementation of the smoking ban indicated the effectiveness of the law.

  6. Primary motor cortex functionally contributes to language comprehension: An online rTMS study.

    Science.gov (United States)

    Vukovic, Nikola; Feurra, Matteo; Shpektor, Anna; Myachykov, Andriy; Shtyrov, Yury

    2017-02-01

    Among various questions pertinent to grounding human cognitive functions in a neurobiological substrate, the association between language and motor brain structures is a particularly debated one in neuroscience and psychology. While many studies support a broadly distributed model of language and semantics grounded, among other things, in the general modality-specific systems, theories disagree as to whether motor and sensory cortex activity observed during language processing is functional or epiphenomenal. Here, we assessed the role of motor areas in linguistic processing by investigating the responses of 28 healthy volunteers to different word types in semantic and lexical decision tasks, following repetitive transcranial magnetic stimulation (rTMS) of primary motor cortex. We found that early rTMS (delivered within 200ms of word onset) produces a left-lateralised and meaning-specific change in reaction speed, slowing down behavioural responses to action-related words, and facilitating abstract words - an effect present only during semantic, but not lexical, decision. We interpret these data in light of action-perception theory of language, bolstering the claim that motor cortical areas play a functional role in language comprehension. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. International and Domestic Challenges to Comprehensive National Cybersecurity: A Case Study of the Czech Republic

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    Nadiya Kostyuk

    2014-04-01

    Full Text Available While many countries and companies have fallen victim to cyber attacks over the past few years, including American companies such as Apple, Microsoft, and Facebook, Czech websites remained relatively safe until March 2013, when they were interrupted by a series of cyber attacks. Even though the origin of the attacks remains debatable, this case study demonstrates the importance of cooperation between nations in the nascent phase of the internet development and their more powerful allies. Domestic challenges that nations face in addressing cybersecurity in an effective and comprehensive manner include ambiguous legislation, recalcitrant officials, and a lack of both fiscal and human capital. To address these challenges, nations should cooperate with their more capable allies, such as the EU and NATO, create better cyber protective measures, train and hire qualified specialists in the public sector, and intensify private-public partnership. Until an international agenda on cyberspace is set, these nations with limited resources should cooperate with developed nations lest they risk more severe attacks in the future.

  8. Comprehensive Study of Lanthanum Aluminate High-Dielectric-Constant Gate Oxides for Advanced CMOS Devices

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    Masamichi Suzuki

    2012-03-01

    Full Text Available A comprehensive study of the electrical and physical characteristics of Lanthanum Aluminate (LaAlO3 high-dielectric-constant gate oxides for advanced CMOS devices was performed. The most distinctive feature of LaAlO3 as compared with Hf-based high-k materials is the thermal stability at the interface with Si, which suppresses the formation of a low-permittivity Si oxide interfacial layer. Careful selection of the film deposition conditions has enabled successful deposition of an LaAlO3 gate dielectric film with an equivalent oxide thickness (EOT of 0.31 nm. Direct contact with Si has been revealed to cause significant tensile strain to the Si in the interface region. The high stability of the effective work function with respect to the annealing conditions has been demonstrated through comparison with Hf-based dielectrics. It has also been shown that the effective work function can be tuned over a wide range by controlling the La/(La + Al atomic ratio. In addition, gate-first n-MOSFETs with ultrathin EOT that use sulfur-implanted Schottky source/drain technology have been fabricated using a low-temperature process.

  9. A Comprehensive Study on the Internet of Underwater Things: Applications, Challenges, and Channel Models

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    Chien-Chi Kao

    2017-06-01

    Full Text Available The Internet of Underwater Things (IoUT is a novel class of Internet of Things (IoT, and is defined as the network of smart interconnected underwater objects. IoUT is expected to enable various practical applications, such as environmental monitoring, underwater exploration, and disaster prevention. With these applications, IoUT is regarded as one of the potential technologies toward developing smart cities. To support the concept of IoUT, Underwater Wireless Sensor Networks (UWSNs have emerged as a promising network system. UWSNs are different from the traditional Territorial Wireless Sensor Networks (TWSNs, and have several unique properties, such as long propagation delay, narrow bandwidth, and low reliability. These unique properties would be great challenges for IoUT. In this paper, we provide a comprehensive study of IoUT, and the main contributions of this paper are threefold: (1 we introduce and classify the practical underwater applications that can highlight the importance of IoUT; (2 we point out the differences between UWSNs and traditional TWSNs, and these differences are the main challenges for IoUT; and (3 we investigate and evaluate the channel models, which are the technical core for designing reliable communication protocols on IoUT.

  10. A Comprehensive Study on the Internet of Underwater Things: Applications, Challenges, and Channel Models.

    Science.gov (United States)

    Kao, Chien-Chi; Lin, Yi-Shan; Wu, Geng-De; Huang, Chun-Ju

    2017-06-22

    The Internet of Underwater Things (IoUT) is a novel class of Internet of Things (IoT), and is defined as the network of smart interconnected underwater objects. IoUT is expected to enable various practical applications, such as environmental monitoring, underwater exploration, and disaster prevention. With these applications, IoUT is regarded as one of the potential technologies toward developing smart cities. To support the concept of IoUT, Underwater Wireless Sensor Networks (UWSNs) have emerged as a promising network system. UWSNs are different from the traditional Territorial Wireless Sensor Networks (TWSNs), and have several unique properties, such as long propagation delay, narrow bandwidth, and low reliability. These unique properties would be great challenges for IoUT. In this paper, we provide a comprehensive study of IoUT, and the main contributions of this paper are threefold: (1) we introduce and classify the practical underwater applications that can highlight the importance of IoUT; (2) we point out the differences between UWSNs and traditional TWSNs, and these differences are the main challenges for IoUT; and (3) we investigate and evaluate the channel models, which are the technical core for designing reliable communication protocols on IoUT.

  11. A Comprehensive Study of the Polypropylene Fiber Reinforced Fly Ash Based Geopolymer.

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    Navid Ranjbar

    Full Text Available As a cementitious material, geopolymers show a high quasi-brittle behavior and a relatively low fracture energy. To overcome such a weakness, incorporation of fibers to a brittle matrix is a well-known technique to enhance the flexural properties. This study comprehensively evaluates the short and long term impacts of different volume percentages of polypropylene fiber (PPF reinforcement on fly ash based geopolymer composites. Different characteristics of the composite were compared at fresh state by flow measurement and hardened state by variation of shrinkage over time to assess the response of composites under flexural and compressive load conditions. The fiber-matrix interface, fiber surface and toughening mechanisms were assessed using field emission scan electron microscopy (FESEM and atomic force microscopy (AFM. The results show that incorporation of PPF up to 3 wt % into the geopolymer paste reduces the shrinkage and enhances the energy absorption of the composites. While, it might reduce the ultimate flexural and compressive strength of the material depending on fiber content.

  12. Genetic Determinism in the Genetics Curriculum. An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

    Science.gov (United States)

    Jamieson, Annie; Radick, Gregory

    2017-12-01

    Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism. Undergraduate students who attended a standard `Mendelian approach' university course in introductory genetics on average showed no change in their determinist views about genes. By contrast, students who attended an alternative course which, inspired by the work of a critic of early Mendelism, W. F. R. Weldon (1860-1906), replaced an emphasis on Mendel's peas with an emphasis on developmental contexts and their role in bringing about phenotypic variability, were less determinist about genes by the end of teaching. Improvements in both the new Weldonian curriculum and the study design are in view for the future.

  13. Technology assessment and resource allocation for predictive genetic testing: A study of the perspectives of Canadian genetic health care providers

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    Einsiedel Edna

    2009-06-01

    Full Text Available Abstract Background With a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing robust decision rules or guidelines to allocate a finite number of public resources. The objective of this study was to gain Canadian genetic health providers' perspectives on factors and criteria that influence and shape resource allocation decisions for publically funded predictive genetic testing in Canada. Methods The authors conducted semi-structured interviews with 16 senior lab directors and clinicians at publically funded Canadian predictive genetic testing facilities. Participants were drawn from British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia. Given the community sampled was identified as being relatively small and challenging to access, purposive sampling coupled with snowball sampling methodologies were utilized. Results Surveyed lab directors and clinicians indicated that predictive genetic tests were funded provincially by one of two predominant funding models, but they themselves played a significant role in how these funds were allocated for specific tests and services. They also rated and identified several factors that influenced allocation decisions and patients' decisions regarding testing. Lastly, participants provided recommendations regarding changes to existing allocation models and showed support for a national evaluation process for predictive testing. Conclusion Our findings suggest that largely local and relatively ad hoc decision making processes are being made in relation to resource allocations for predictive genetic tests and that a more coordinated and, potentially, national approach to allocation decisions in this context may be appropriate.

  14. Exploring the Causes of Listening Comprehension Anxiety from EFL Saudi Learners' Perspectives: A Pilot Study

    Science.gov (United States)

    Otair, Ibrahim; Aziz, Noor Hashima Abd

    2017-01-01

    Anxiety is an important factor in foreign language learning. Very few studies have been done on English as a Foreign Language (EFL) Saudi students in listening classes. Therefore, this pilot study was aimed at exploring the causes of listening comprehension anxiety from EFL Saudi learners' perspectives at Majmaah University, Saudi Arabia. The…

  15. Improving Student Comprehension of Social Studies Text: A Self-Questioning Strategy for Inclusive Middle School Classes

    Science.gov (United States)

    Berkeley, Sheri; Marshak, Lisa; Mastropieri, Margo A.; Scruggs, Thomas E.

    2011-01-01

    This study employed a randomized experimental design to investigate the effectiveness of a self-questioning strategy for improving student reading comprehension of grade-level social studies text material. Fifty-seven seventh grade students with a range of abilities, including English as second language learners and students with learning and…

  16. Comprehensive School Reform Models: A Study Guide for Comparing CSR Models (and How Well They Meet Minnesota's Learning Standards).

    Science.gov (United States)

    St. John, Edward P.; Loescher, Siri; Jacob, Stacy; Cekic, Osman; Kupersmith, Leigh; Musoba, Glenda Droogsma

    A growing number of schools are exploring the prospect of applying for funding to implement a Comprehensive School Reform (CSR) model. But the process of selecting a CSR model can be complicated because it frequently involves self-study and a review of models to determine which models best meet the needs of the school. This study guide is intended…

  17. A Comparative Study of Listening Comprehension Measures in English as an Additional Language and Native English-Speaking Primary School Children

    Science.gov (United States)

    McKendry, Mairead Grainne; Murphy, Victoria A.

    2011-01-01

    The aim of this study was to investigate the suitability of different measures of listening comprehension for Years 2, 3 and 4 children with English as an additional language (EAL). Non-standardised uses of reading comprehension measures are often employed as proxy measures of listening comprehension, i.e. for purposes for which they were not…

  18. Interprofessional teamwork in comprehensive primary healthcare services: Findings from a mixed methods study.

    Science.gov (United States)

    Bentley, Michael; Freeman, Toby; Baum, Fran; Javanparast, Sara

    2018-05-01

    This article draws on data from a 5-year project that examined the effectiveness of Comprehensive primary healthcare (CPHC) in local communities. A hallmark of CPHC services is interprofessional teamwork. Drawing from this study, our article presents factors that enabled, or hindered, healthcare teams working interprofessionally in Australian primary healthcare (PHC) services. The article reports on the experiences of teams working in six Australian PHC services (four managed by state governments, one non-government sexual health organisation, and one Aboriginal community-controlled health service) during a time of significant health sector restructure. Findings are drawn from two key methods: an online survey of practitioners and managers (n = 154), and interviews with managers and practitioners (n = 60) from the six study sites. The majority of survey respondents worked with other health professionals in their service to provide interprofessional care to clients. Processes included formal team meetings, case conferencing, referring clients to other health professionals if needed, informal communication with other health professionals about clients, and team-based delivery of care. A range of interrelated factors affected interprofessional work at the services, from contextual, organisational, processual, and relational domains. Funding cuts and policy changes that saw a reorientation and re-medicalisation of South Australian services undermined interprofessional work, while a shared CPHC culture and commitment among some staff was helpful in resisting some of these effects. The co-location of services was a factor in PHC teams working interprofessionally and not only enabled some PHC teams to work more interprofessionally but also created barriers to interprofessional teamwork through disruption resulting from restructuring of services. Our study indicates the importance of decision makers taking into account the potential effects of policy and structural

  19. Reading comprehension and its underlying components in second-language learners: A meta-analysis of studies comparing first- and second-language learners.

    Science.gov (United States)

    Melby-Lervåg, Monica; Lervåg, Arne

    2014-03-01

    We report a systematic meta-analytic review of studies comparing reading comprehension and its underlying components (language comprehension, decoding, and phonological awareness) in first- and second-language learners. The review included 82 studies, and 576 effect sizes were calculated for reading comprehension and underlying components. Key findings were that, compared to first-language learners, second-language learners display a medium-sized deficit in reading comprehension (pooled effect size d = -0.62), a large deficit in language comprehension (pooled effect size d = -1.12), but only small differences in phonological awareness (pooled effect size d = -0.08) and decoding (pooled effect size d = -0.12). A moderator analysis showed that characteristics related to the type of reading comprehension test reliably explained the variation in the differences in reading comprehension between first- and second-language learners. For language comprehension, studies of samples from low socioeconomic backgrounds and samples where only the first language was used at home generated the largest group differences in favor of first-language learners. Test characteristics and study origin reliably contributed to the variations between the studies of language comprehension. For decoding, Canadian studies showed group differences in favor of second-language learners, whereas the opposite was the case for U.S. studies. Regarding implications, unless specific decoding problems are detected, interventions that aim to ameliorate reading comprehension problems among second-language learners should focus on language comprehension skills.

  20. Cannabis Controversies: How genetics can inform the study of comorbidity

    Science.gov (United States)

    Agrawal, Arpana; Lynskey, Michael T.

    2014-01-01

    Aims To review three key and controversial comorbidities of cannabis use – other illicit drug use, psychosis and depression as well as suicide, from a genetically informed perspective. Design Selective review. Results Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Conclusions Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. PMID:24438181

  1. A genetic study of SSV1, the prototypical fusellovirus.

    Directory of Open Access Journals (Sweden)

    Eric eIverson

    2012-06-01

    Full Text Available Viruses of thermophilic Archaea are unique in both their structures and genomic sequences. The most widespread and arguably best studied are the lemon-shaped fuselloviruses. The spindle-shaped virus morphology is unique to Archaea but widespread therein. The best studied fusellovirus is SSV1 from Beppu Japan, which infects Sulfolobus solfataricus. Very little is known about the function of the genes in the SSV1 genome. Recently we have developed genetic tools to analyze these genes. In this study, we have deleted three SSV1 open reading frames ranging from completely conserved to poorly conserved: VP2, d244, and b129. Deletion of the universally conserved ORF b129, which encodes a predicted transcriptional regulator, results in loss of infectivity. Deletion of the poorly-conserved predicted DNA binding protein gene VP2 yields viable virus that is indistinguishable from wild-type Deletion of the well-conserved ORF d244 that encodes a predicted nuclease yields viable virus. However infection of Sulfolobus solfataricus with virus lacking ORF d244 dramatically retards host growth, compared to the wild-type virus.

  2. Serial changes of humor comprehension for four-frame comic Manga: an fMRI study.

    Science.gov (United States)

    Osaka, Mariko; Yaoi, Ken; Minamoto, Takehiro; Osaka, Naoyuki

    2014-07-25

    Serial changes of humor comprehension evoked by a well organized four-frame comic Manga were investigated by fMRI in each step of humor comprehension. The neural substrates underlying the amusing effects in response to funny and mixed order manga were compared. In accordance with the time course of the four frames, fMRI activations changed serially. Beginning with the second frame (development scene), activation of the temporo-parietal junction (TPJ) was observed, followed by activations in the temporal and frontal areas during viewing of the third frame (turn scene). For the fourth frame (punch line), strong increased activations were confirmed in the medial prefrontal cortex (MPFC) and cerebellum. Interestingly, distinguishable activation differences in the cerebellum between funny and non-funny conditions were also found for the fourth frame. These findings suggest that humor comprehension evokes activation that initiates in the TPJ and expands to the MPFC and cerebellum at the convergence level.

  3. Learning from Mistakes --- A Comprehensive Study on Real World Concurrency Bug Characteristics

    International Nuclear Information System (INIS)

    Shan Lu; Soyeon Park; Eunsoo Seo; Yuanyuan Zhou

    2008-01-01

    The reality of multi-core hardware has made concurrent programs pervasive. Unfortunately, writing correct concurrent programs is difficult. Addressing this challenge requires advances in multiple directions, including concurrency bug detection, concurrent program testing, concurrent programming model design, etc. Designing effective techniques in all these directions will significantly benefit from a deep understanding of real world concurrency bug characteristics. This paper provides the first (to the best of our knowledge) comprehensive real world concurrency bug characteristic study. Specifically, we have carefully examined concurrency bug patterns, manifestation, and fix strategies of 105 randomly selected real world concurrency bugs from 4 representative server and client opensource applications (MySQL, Apache, Mozilla and OpenOffice). Our study reveals several interesting findings and provides useful guidance for concurrency bug detection, testing, and concurrent programming language design. Some of our findings are as follows: (1) Around one third of the examined non-deadlock concurrency bugs are caused by violation to programmers order intentions, which may not be easily expressed via synchronization primitives like locks and transactional memories; (2) Around 34% of the examined non-deadlock concurrency bugs involve multiple variables, which are not well addressed by existing bug detection tools; (3) About 92% of the examined concurrency bugs can be reliably triggered by enforcing certain orders among no more than 4 memory accesses. This indicates that testing concurrent programs can target at exploring possible orders among every small groups of memory accesses, instead of among all memory accesses; (4) About 73% of the examined non-deadlock concurrency bugs were not fixed by simply adding or changing locks, and many of the fixes were not correct at the first try, indicating the difficulty of reasoning concurrent execution by programmers.

  4. Introduction to genetics in ophthalmology, value of family studies

    Science.gov (United States)

    Ohba

    2000-05-01

    This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. Choroideremia: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease.Leber's Hereditary Optic Neuropathy: The clinical expression is so variable among affected individuals and families that mild optic nerve disease of insidious onset should be differentiated from autosomal dominant optic atrophy. Molecular assessment of mitochondrial DNA leads to a definite diagnosis of the disease, but mitochondrial DNA mutations do not fully account for the clinical manifestation and phenotypic variability of the disease.Norrie Disease: This rare X-linked vitreoretinal dysplasia, characterized by congenital bilateral blindness, was documented in Japan some twenty years ago and the disease has been identified in four unrelated Japanese families. The disease, once diagnosed on the basis of elaborate clinical and familial studies, can now be defined by molecular assessment of the Norrie disease gene.Congenital Nystagmus: A four-generation family was described which presented with autosomal dominantly inherited congenital nystagmus, peripheral corneal opacity, and foveal hypoplasia without any iris tissue malformation. The diagnosis of this family was established by detection of a missense mutation in the paired domain of the PAX 6 gene, hence conforming to a forme fruste of congenital aniridia.Sorsby's Fundus Dystrophy: Two Japanese families with Sorsby's fundus dystrophy showed late-onset retinal dystrophy characterized by submacular hemorrhage and atrophy. Our patients

  5. [Introduction to genetics in ophthalmology. Value of family studies].

    Science.gov (United States)

    Ohba, N

    1999-12-01

    This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. CHOROIDEREMIA: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease. LEBER'S HEREDITARY OPTIC NEUROPATHY: The clinical expression is so variable among affected individuals and families that mild optic nerve disease of insidious onset should be differentiated from autosomal dominant optic atrophy. Molecular assessment of mitochondrial DNA leads to a definite diagnosis of the disease, but mitochondrial DNA mutations do not fully account for the clinical manifestation and phenotypic variability of the disease. NORRIE DISEASE: This rare X-linked vitreoretinal dysplasia, characterized by congenital bilateral blindness, was documented in Japan some twenty years ago and the disease has been identified in four unrelated Japanese families. The disease, once diagnosed on the basis of elaborate clinical and familial studies, can now be defined by molecular assessment of the Norrie disease gene. CONGENITAL NYSTAGMUS: A four-generation family was described which presented with autosomal dominantly inherited congenital nystagmus, peripheral corneal opacity, and foveal hypoplasia without any iris tissue malformation. The diagnosis of this family was established by detection of a missense mutation in the paired domain of the PAX 6 gene, hence conforming to a forme fruste of congenital aniridia. SORSBY'S FUNDUS DYSTROPHY: Two Japanese families with Sorsby's fundus dystrophy showed late-onset retinal dystrophy characterized by submacular hemorrhage and atrophy. Our patients

  6. Phonological and semantic processing during comprehension in Wernicke's aphasia: An N400 and Phonological Mapping Negativity Study.

    Science.gov (United States)

    Robson, Holly; Pilkington, Emma; Evans, Louise; DeLuca, Vincent; Keidel, James L

    2017-06-01

    Comprehension impairments in Wernicke's aphasia are thought to result from a combination of impaired phonological and semantic processes. However, the relationship between these cognitive processes and language comprehension has only been inferred through offline neuropsychological tasks. This study used ERPs to investigate phonological and semantic processing during online single word comprehension. EEG was recorded in a group of Wernicke's aphasia n=8 and control participants n=10 while performing a word-picture verification task. The N400 and Phonological Mapping Negativity/Phonological Mismatch Negativity (PMN) event-related potential components were investigated as an index of semantic and phonological processing, respectively. Individuals with Wernicke's aphasia displayed reduced and inconsistent N400 and PMN effects in comparison to control participants. Reduced N400 effects in the WA group were simulated in the control group by artificially degrading speech perception. Correlation analyses in the Wernicke's aphasia group found that PMN but not N400 amplitude was associated with behavioural word-picture verification performance. The results confirm impairments at both phonological and semantic stages of comprehension in Wernicke's aphasia. However, reduced N400 responses in Wernicke's aphasia are at least partially attributable to earlier phonological processing impairments. The results provide further support for the traditional model of Wernicke's aphasia which claims a causative link between phonological processing and language comprehension impairments. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study.

    Directory of Open Access Journals (Sweden)

    Binod Neupane

    Full Text Available In a meta-analysis with multiple end points of interests that are correlated between or within studies, multivariate approach to meta-analysis has a potential to produce more precise estimates of effects by exploiting the correlation structure between end points. However, under random-effects assumption the multivariate estimation is more complex (as it involves estimation of more parameters simultaneously than univariate estimation, and sometimes can produce unrealistic parameter estimates. Usefulness of multivariate approach to meta-analysis of the effects of a genetic variant on two or more correlated traits is not well understood in the area of genetic association studies. In such studies, genetic variants are expected to roughly maintain Hardy-Weinberg equilibrium within studies, and also their effects on complex traits are generally very small to modest and could be heterogeneous across studies for genuine reasons. We carried out extensive simulation to explore the comparative performance of multivariate approach with most commonly used univariate inverse-variance weighted approach under random-effects assumption in various realistic meta-analytic scenarios of genetic association studies of correlated end points. We evaluated the performance with respect to relative mean bias percentage, and root mean square error (RMSE of the estimate and coverage probability of corresponding 95% confidence interval of the effect for each end point. Our simulation results suggest that multivariate approach performs similarly or better than univariate method when correlations between end points within or between studies are at least moderate and between-study variation is similar or larger than average within-study variation for meta-analyses of 10 or more genetic studies. Multivariate approach produces estimates with smaller bias and RMSE especially for the end point that has randomly or informatively missing summary data in some individual studies, when

  8. Human genetics studies in areas of high natural radiation. VII. Genetic load

    Energy Technology Data Exchange (ETDEWEB)

    Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

    1975-01-01

    Two methods to estimate the inbreeding load, employed in our analysis, are reviewed. Besides the total population, a sample constituted of individuals with no alien ancesters is also analyzed. The measurements by genetic load models show a clear effect of natural radioactivity (especially for abortions, pre-natal mortality, anomalies, and abnormalities in general). The results on stillbirths and post-natal and total mortalities are discussed and it is concluded that uncontrolled concomitant variables (if not chance alone) cause the differences.

  9. Study on comprehensive planning of rocky desertification in karst area of Chongqing

    Science.gov (United States)

    Zang, Yajun

    2017-11-01

    Chongqing is a key area for comprehensive treatment of rocky desertification in karst areas of china. Strengthening the comprehensive management of karst rocky desertification area, for the maintenance of ecological safety of Three Gorges Reservoir area, expanding the karst rocky desertification area people survival and development space, and improving the regional ecological conditions, have important practical significance to the construction of ecological civilization and building a harmonious society. Based on the investigation, analysis and arrangement of the data in the rocky desertification area, the paper puts forward the corresponding measures and phased targets for the treatment of the Rocky Desertification in the karst areas of Chongqing.

  10. Genetical Studies On Haploid Production In Some Ornamental Plants

    International Nuclear Information System (INIS)

    MOSTAFA, M.A.M.

    2013-01-01

    Haploid are plants with a gametophytic chromosome number and doubled haploid are dihaploids that have undergone chromosome duplication. The production of haploid and doubled haploid (DHs) through gametic embryogenesis allows a single-step development of complete homozygous lines from heterozygous parents, shortening the time required to produce homozygous plants in comparison with the conventional breeding methods that employ several generations of selfing. The production of haploid and DHs provides a particularly attractive biotechnological tool, and the development of haploidy technology and protocols to produce homozygous plants has had a significant impact on agricultural systems. Nowadays, these bio technologies represent an integral part of the breeding programmes of many agronomically important crops. There are several available methods to obtain haploid and DHs, of which in vitro anther or isolated microspore culture are the most effective and widely used (Germana Maria 2011). Tissue culture techniques, particularly short-term culture procedures such as shoot-tip culture and regeneration from primary explants, have been proposed as methods for obtaining large numbers of plants identical to the plant used as an explant source( Evans et al., 1984). Nicotiana spp. are one of the most important commercial crops in the world ( Liu and Zhang, 2008). Nicotiana alata is member from family solanacea, it is ornamental plant and the diploid cells contains 18 chromosomes. Nitsch (1969) reported the first production of haploid plants through anther culture and regeneration of plants of Nicotiana alata, For these reasons they have been considered to suitable candidates for model species in somatic cell genetics research( Bourgin et al., 1979). Radiobiological studies on plant tissues in culture may provide information on the cell growth behavior, radiosensitivity and the induction of mutations. The radiosensitivity of plants and calli can be manifested mostly in three

  11. Comprehension of concrete and abstract words in semantic variant primary progressive aphasia and Alzheimer's disease: A behavioral and neuroimaging study.

    Science.gov (United States)

    Joubert, Sven; Vallet, Guillaume T; Montembeault, Maxime; Boukadi, Mariem; Wilson, Maximiliano A; Laforce, Robert Jr; Rouleau, Isabelle; Brambati, Simona M

    2017-07-01

    The aim of this study was to investigate the comprehension of concrete, abstract and abstract emotional words in semantic variant primary progressive aphasia (svPPA), Alzheimer's disease (AD), and healthy elderly adults (HE) Three groups of participants (9 svPPA, 12 AD, 11 HE) underwent a general neuropsychological assessment, a similarity judgment task, and structural brain MRI. The three types of words were processed similarly in the group of AD participants. In contrast, patients in the svPPA group were significantly more impaired at processing concrete words than abstract words, while comprehension of abstract emotional words was in between. VBM analyses showed that comprehension of concrete words relative to abstract words was significantly correlated with atrophy in the left anterior temporal lobe. These results support the view that concrete words are disproportionately impaired in svPPA, and that concrete and abstract words may rely upon partly dissociable brain regions. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. A Correlational Study of a Reading Comprehension Program and Attrition Rates of ESL Nursing Students in Texas.

    Science.gov (United States)

    Donnell, Wendy M

    The purpose of this study was to examine the associations between English as a second language (ESL), a reading comprehension program, and attrition rates of nursing students. Higher attrition rates of ESL nursing students are an assumption, seemingly based on anecdotal evidence. Data reflecting ESL student attrition should be measured and analyzed so that students can be identified prior to attrition. A secondary analysis of a large database of 27 initial licensure programs in Texas was completed. Data analysis identified that ESL students who used a reading comprehension program were almost twice as likely to be off track or out of the program as ESL students who did not use the program. Nurse educators need to evaluate student profile characteristics in a comprehensive way when determining risk of attrition.

  13. Microbial Genetic Memory to Study Heterogeneous Soil Processes

    Science.gov (United States)

    Fulk, E. M.; Silberg, J. J.; Masiello, C. A.

    2017-12-01

    Microbes can be engineered to sense environmental conditions and produce a detectable output. These microbial biosensors have traditionally used visual outputs that are difficult to detect in soil. However, recently developed gas-producing biosensors can be used to noninvasively monitor complex soil processes such as horizontal gene transfer or cell-cell signaling. While these biosensors report on the fraction of a microbial population exposed to a process or chemical signal at the time of measurement, they do not record a "memory" of past exposure. Synthetic biologists have recently developed a suite of genetically encoded memory circuits capable of reporting on historical exposure to the signal rather than just the current state. We will provide an overview of the microbial memory systems that may prove useful to studying microbial decision-making in response to environmental conditions. Simple memory circuits can give a yes/no report of any past exposure to the signal (for example anaerobic conditions, osmotic stress, or high nitrate concentrations). More complicated systems can report on the order of exposure of a population to multiple signals or the experiences of spatially distinct populations, such as those in root vs. bulk soil. We will report on proof-of-concept experiments showing the function of a simple permanent memory system in soil-cultured microbes, and we will highlight additional applications. Finally, we will discuss challenges still to be addressed in applying these memory circuits for biogeochemical studies.

  14. [Study on tests of genetics experiments in universities].

    Science.gov (United States)

    Jie, He; Hao, Zhang; Lili, Zhang

    2015-03-01

    Based on the present situation and the development of experiment tests in universities, we introduced a reform in tests of genetics experiments. According to the teaching goals and course contents of genetics experiment, the tests of genetics experiments contain four aspects on the performance of students: the adherence to the experimental procedures, the depth of participation in experiment, the quality of experiment report, and the mastery of experiment principles and skills, which account for 10 %, 20 %, 40 % and 30 % in the total scores, respectively. All four aspects were graded quantitatively. This evaluation system has been tested in our experiment teaching. The results suggest that it has an effect on the promotion of teaching in genetics experiments.

  15. Molecular evaluation of genetic diversity and association studies in ...

    Indian Academy of Sciences (India)

    2012-04-05

    Apr 5, 2012 ... Phenotypic data were collected for yield and component traits. Pattern of ...... ical isolation, evolutionary time gaps, mutation, selection and genetic drift ..... along chromosome 1 of maize (Zea mays ssp. mays L.). Proc. Natl.

  16. Genetic diversity study of common bean (Phaseolus vulgaris L ...

    African Journals Online (AJOL)

    SAM

    2014-09-03

    Sep 3, 2014 ... Key words: Genetic diversity, ISSR, Phaseolus vulgaris. INTRODUCTION ..... effective germplasm conservation and for setting germ- plasm collection ... conservation and research programs of the species. Furthermore, the ...

  17. "Genetic Engineering" Gains Momentum (Science/Society Case Study).

    Science.gov (United States)

    Moore, John W.; Moore, Elizabeth A., Eds.

    1980-01-01

    Reviews the benefits and hazards of genetic engineering, or "recombinant-DNA" research. Recent federal safety rules issued by NIH which ease the strict prohibitions on recombinant-DNA research are explained. (CS)

  18. Using inter simple sequence repeat (ISSR) markers to study genetic ...

    African Journals Online (AJOL)

    enoh

    2012-04-10

    Apr 10, 2012 ... Genetic relationships among the cultivars was assessed by using six inter simple sequence ... polymorphism breeders of this species in order to find the ..... well as the high level of heterozygosity due to the cross- pollinating ...

  19. Molecular Genetic and Gene Therapy Studies of the Musculoskeletal System

    National Research Council Canada - National Science Library

    Baylink, David

    2004-01-01

    The primary goal of the proposed work is to apply several state of the art molecular genetic and gene therapy technologies to address fundamental questions in bone biology with a particular emphasis on attempting: l...

  20. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  1. A comprehensive experimental and kinetic modeling study of n -propylbenzene combustion

    KAUST Repository

    Yuan, Wenhao; Li, Yuyang; Dagaut, Philippe; Wang, Yizun; Wang, Zhandong; Qi, Fei

    2017-01-01

    This work presents a comprehensive experimental and kinetic modeling study on the combustion of n-propylbenzene. Flow reactor pyrolysis of n-propylbenzene at 0.04, 0.2 and 1 atm and laminar premixed flames of n-propylbenzene at 0.04 atm with equivalence ratios of 0.75 and 1.00 were investigated with synchrotron vacuum ultraviolet photoionization mass spectrometry. Jet stirred reactor (JSR) oxidation of n-propylbenzene at 10 atm with equivalence ratios of 0.5, 1.0, 1.5 and 2.0 was investigated with gas chromatography. A detailed kinetic model for n-propylbenzene combustion with 340 species and 2069 reactions was developed and validated against the data measured in this work. Model analyses such as rate of production analysis and sensitivity analysis were also performed to reveal the key pathways in the consumption of fuel and formation of polycyclic aromatic hydrocarbons (PAHs). The analysis results demonstrate that the benzylic Csingle bondC bond dissociation reaction is crucial for the decomposition of n-propylbenzene in the pyrolysis and rich flame. Low temperature oxidation reactions play important roles in the high pressure JSR oxidation of n-propylbenzene. In addition, the formation pathways of PAHs are strongly related to the fuel structure, especially for the formation of bicyclic PAHs such as indene and naphthalene. Furthermore, the present model was also validated against previous experimental data of n-propylbenzene combustion under a wide range of conditions, including ignition delay times, laminar flame speeds, extinction strain rates, speciation profiles in atmospheric pressure JSR oxidation, flow reactor oxidation and high pressure shock tube pyrolysis and oxidation.

  2. A comprehensive experimental and kinetic modeling study of n -propylbenzene combustion

    KAUST Repository

    Yuan, Wenhao

    2017-09-05

    This work presents a comprehensive experimental and kinetic modeling study on the combustion of n-propylbenzene. Flow reactor pyrolysis of n-propylbenzene at 0.04, 0.2 and 1 atm and laminar premixed flames of n-propylbenzene at 0.04 atm with equivalence ratios of 0.75 and 1.00 were investigated with synchrotron vacuum ultraviolet photoionization mass spectrometry. Jet stirred reactor (JSR) oxidation of n-propylbenzene at 10 atm with equivalence ratios of 0.5, 1.0, 1.5 and 2.0 was investigated with gas chromatography. A detailed kinetic model for n-propylbenzene combustion with 340 species and 2069 reactions was developed and validated against the data measured in this work. Model analyses such as rate of production analysis and sensitivity analysis were also performed to reveal the key pathways in the consumption of fuel and formation of polycyclic aromatic hydrocarbons (PAHs). The analysis results demonstrate that the benzylic Csingle bondC bond dissociation reaction is crucial for the decomposition of n-propylbenzene in the pyrolysis and rich flame. Low temperature oxidation reactions play important roles in the high pressure JSR oxidation of n-propylbenzene. In addition, the formation pathways of PAHs are strongly related to the fuel structure, especially for the formation of bicyclic PAHs such as indene and naphthalene. Furthermore, the present model was also validated against previous experimental data of n-propylbenzene combustion under a wide range of conditions, including ignition delay times, laminar flame speeds, extinction strain rates, speciation profiles in atmospheric pressure JSR oxidation, flow reactor oxidation and high pressure shock tube pyrolysis and oxidation.

  3. Green synthesis and characterization of silver nanoparticles using Artemisia absinthium aqueous extract--A comprehensive study.

    Science.gov (United States)

    Ali, Mohammad; Kim, Bosung; Belfield, Kevin D; Norman, David; Brennan, Mary; Ali, Gul Shad

    2016-01-01

    Unlike chemical synthesis, biological synthesis of nanoparticles is gaining tremendous interest, and plant extracts are preferred over other biological sources due to their ample availability and wide array of reducing metabolites. In this project, we investigated the reducing potential of aqueous extract of Artemisia absinthium L. for synthesizing silver nanoparticles (AgNPs). Optimal synthesis of AgNPs with desirable physical and biological properties was investigated using ultra violet-visible spectroscopy (UV-vis), dynamic light scattering (DLS), transmission electron microscopy (TEM) and energy-dispersive X-ray analysis (EDX). To determine their appropriate concentrations for AgNP synthesis, two-fold dilutions of silver nitrate (20 to 0.62 mM) and aqueous plant extract (100 to 0.79 mg ml(-1)) were reacted. The results showed that silver nitrate (2mM) and plant extract (10 mg ml(-1)) mixed in different ratios significantly affected size, stability and yield of AgNPs. Extract to AgNO3 ratio of 6:4v/v resulted in the highest conversion efficiency of AgNO3 to AgNPs, with the particles in average size range of less than 100 nm. Furthermore, the direct imaging of synthesized AgNPs by TEM revealed polydispersed particles in the size range of 5 to 20 nm. Similarly, nanoparticles with the characteristic peak of silver were observed with EDX. This study presents a comprehensive investigation of the differential behavior of plant extract and AgNO3 to synthesize biologically stable AgNPs. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Processing of false belief passages during natural story comprehension: An fMRI study.

    Science.gov (United States)

    Kandylaki, Katerina D; Nagels, Arne; Tune, Sarah; Wiese, Richard; Bornkessel-Schlesewsky, Ina; Kircher, Tilo

    2015-11-01

    The neural correlates of theory of mind (ToM) are typically studied using paradigms which require participants to draw explicit, task-related inferences (e.g., in the false belief task). In a natural setup, such as listening to stories, false belief mentalizing occurs incidentally as part of narrative processing. In our experiment, participants listened to auditorily presented stories with false belief passages (implicit false belief processing) and immediately after each story answered comprehension questions (explicit false belief processing), while neural responses were measured with functional magnetic resonance imaging (fMRI). All stories included (among other situations) one false belief condition and one closely matched control condition. For the implicit ToM processing, we modeled the hemodynamic response during the false belief passages in the story and compared it to the hemodynamic response during the closely matched control passages. For implicit mentalizing, we found activation in typical ToM processing regions, that is the angular gyrus (AG), superior medial frontal gyrus (SmFG), precuneus (PCUN), middle temporal gyrus (MTG) as well as in the inferior frontal gyrus (IFG) billaterally. For explicit ToM, we only found AG activation. The conjunction analysis highlighted the left AG and MTG as well as the bilateral IFG as overlapping ToM processing regions for both implicit and explicit modes. Implicit ToM processing during listening to false belief passages, recruits the left SmFG and billateral PCUN in addition to the "mentalizing network" known form explicit processing tasks. © 2015 Wiley Periodicals, Inc.

  5. Toward a Comprehensive Model of Frailty: An Emerging Concept From the Hong Kong Centenarian Study.

    Science.gov (United States)

    Kwan, Joseph Shiu Kwong; Lau, Bobo Hi Po; Cheung, Karen Siu Lan

    2015-06-01

    A better understanding of the essential components of frailty is important for future developments of management strategies. We aimed to assess the incremental validity of a Comprehensive Model of Frailty (CMF) over Frailty Index (FI) in predicting self-rated health and functional dependency amongst near-centenarians and centenarians. Cross-sectional, community-based study. Two community-based social and clinical networks. One hundred twenty-four community-dwelling Chinese near-centenarians and centenarians. Frailty was first assessed using a 32-item FI (FI-32). Then, a new CMF was constructed by adding 12 items in the psychological, social/family, environmental, and economic domains to the FI-32. Hierarchical multiple regressions explored whether the new CMF provided significant additional predictive power for self-rated health and instrumental activities of daily living (IADL) dependency. Mean age was 97.7 (standard deviation 2.3) years, with a range from 95 to 108, and 74.2% were female. Overall, 16% of our participants were nonfrail, 59% were prefrail, and 25% were frail. Frailty according to FI-32 significantly predicted self-rated health and IADL dependency beyond the effect of age and gender. Inclusion of the new CMF into the regression models provided significant additional predictive power beyond FI-32 on self-rated health, but not IADL dependency. A CMF should ideally be a multidimensional and multidisciplinary construct including physical, cognitive, functional, psychosocial/family, environmental, and economic factors. Copyright © 2015 AMDA - The Society for Post-Acute and Long-Term Care Medicine. Published by Elsevier Inc. All rights reserved.

  6. Comprehensive Mechanisms for Combustion Chemistry: An Experimental and Numerical Study with Emphasis on Applied Sensitivity Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Dryer, Frederick L.

    2009-04-10

    This project was an integrated experimental/numerical effort to study pyrolysis and oxidation reactions and mechanisms for small-molecule hydrocarbon structures under conditions representative of combustion environments. The experimental aspects of the work were conducted in large-diameter flow reactors, at 0.3 to 18 atm pressure, 500 to 1100 K temperature, and 10-2 to 2 seconds reaction time. Experiments were also conducted to determine reference laminar flame speeds using a premixed laminar stagnation flame experiment and particle image velocimetry, as well as pressurized bomb experiments. Flow reactor data for oxidation experiments include: (1)adiabatic/isothermal species time-histories of a reaction under fixed initial pressure, temperature, and composition; to determine the species present after a fixed reaction time, initial pressure; (2)species distributions with varying initial reaction temperature; (3)perturbations of a well-defined reaction systems (e.g. CO/H2/O2 or H2/O2)by the addition of small amounts of an additive species. Radical scavenging techniques are applied to determine unimolecular decomposition rates from pyrolysis experiments. Laminar flame speed measurements are determined as a function of equivalence ratio, dilution, and unburned gas temperature at 1 atm pressure. Hierarchical, comprehensive mechanistic construction methods were applied to develop detailed kinetic mechanisms which describe the measurements and literature kinetic data. Modeling using well-defined and validated mechanisms for the CO/H2/Oxidant systems and perturbations of oxidation experiments by small amounts of additives were also used to derive absolute reaction rates and to investigate the compatibility of published elementary kinetic and thermochemical information. Numerical tools were developed and applied to assess the importance of individual elementary reactions to the predictive performance of the

  7. Study on technology for utilization of the comprehensive functions of human group

    International Nuclear Information System (INIS)

    Numano, Masayoshi; Matsuoka, Takeshi; Tanaka, Kunihiko; Fukuto, Junji; Mitomo, Nobuo; Miyazaki Keiko; Matsukura, Hiroshi; Tanba, Yasuyuki; Ando, Hirotomo

    1999-01-01

    To prevent an error manipulation in human intelligent workings during plant operation, it seems important to investigate on human comprehensive abilities. In this study, an investigation was made on 4 points; display of plant conditions fitting for human recognition abilities, feedback of plant working fitting to human recognition and sensation, display suitable for human recognition to predict the conditions of plant, and decision making and working support as a group. A supporting system to operate a plant model was constructed using multi-media projection system and transmission head-mount display. A feedback system able to reflect conditional changes in an actuator and a plant during bulb operation was constructed. Using these trial systems, geometric PWR plant model was constructed in 3D-VR space to make numerical simulation. Thus, the efficacy of this system for operating and surveillance workings was examined using control panel on personal computer. Three-dimensional presentation was obtained by combined use of an ordinal operation surveillance system and transmission HMD. If this system is used in combination with FTA, ETA and other logic support like online manual, human errors in judgement and workings during plant operations would be avoided through operator's noticing. If plant operation is regarded as a multi-agent consisted of a plant and humans, it seems possible to construct a model for working assignment and information exchange among agents with different intelligent capacities. It was demonstrated that 3D-VR was effective for information exchange especially among highly intelligent operators because 3D-VR was able to express abundant positional information. Since 3D pointer easily inform other operators about notice point on the screen, the pointer was thought very useful for mutual understanding among operators. (M.N.)

  8. Photodissociation comprehensive study of OH- on alkali halides and their interaction with colour centers

    International Nuclear Information System (INIS)

    Gomes, L.

    1985-01-01

    This work shows that the OH - defect induces changes in the electronics processes of the alkali halides such as in radiation damage and optical cycles of colour centers. Two cases were considered: with the presence of an OH - ion in the (1) excited state and (2) in the ground state; 1) the comprehensive study of resonant OH - photodissociation in several hosts showed that deep traps (for electrons) can be produced from the OH - dissociation. These traps can be effective for the capture of electrons produced in the radiation damage of the lattice as well as for trapping electrons from ionized color centers. It was observed a second channel (new) for the de-excitation of the (OH - )* molecule in KI and RbI. This effect can be effective only when the lattice around the molecule holds a large enough interstitial space. This new mechanism is responsible for the strong production at LNT of F centers and OH 0 molecules at the expenses of OH - defects. Considering the complete investigation of the full cycle it was proposed a phenomenological model that would explain the observed behaviour when one covers a wide variation of lattice parameters (KCl -> RbI); 2) It was verified that the OH - ion present in the lattice induces strong changes in the de-excitation processes of electronic defects with a spread out wave function (like F centers). A change in the reorientation behaviour of excited F 2 and F + 2 centers was also verified. Two main effects should be mentioned: A) The induced de-excitation is very fast and non-radiative on F centers. B) Another type of system investigated (F 2 and F + 2 ) has shown an intense increase of the speed of reorientation of the F 2 and F + 2 excited centers. (autor) [pt

  9. A comprehensive proteomics study on platelet concentrates: Platelet proteome, storage time and Mirasol pathogen reduction technology.

    Science.gov (United States)

    Salunkhe, Vishal; De Cuyper, Iris M; Papadopoulos, Petros; van der Meer, Pieter F; Daal, Brunette B; Villa-Fajardo, María; de Korte, Dirk; van den Berg, Timo K; Gutiérrez, Laura

    2018-03-19

    Platelet concentrates (PCs) represent a blood transfusion product with a major concern for safety as their storage temperature (20-24°C) allows bacterial growth, and their maximum storage time period (less than a week) precludes complete microbiological testing. Pathogen inactivation technologies (PITs) provide an additional layer of safety to the blood transfusion products from known and unknown pathogens such as bacteria, viruses, and parasites. In this context, PITs, such as Mirasol Pathogen Reduction Technology (PRT), have been developed and are implemented in many countries. However, several studies have shown in vitro that Mirasol PRT induces a certain level of platelet shape change, hyperactivation, basal degranulation, and increased oxidative damage during storage. It has been suggested that Mirasol PRT might accelerate what has been described as the platelet storage lesion (PSL), but supportive molecular signatures have not been obtained. We aimed at dissecting the influence of both variables, that is, Mirasol PRT and storage time, at the proteome level. We present comprehensive proteomics data analysis of Control PCs and PCs treated with Mirasol PRT at storage days 1, 2, 6, and 8. Our workflow was set to perform proteomics analysis using a gel-free and label-free quantification (LFQ) approach. Semi-quantification was based on LFQ signal intensities of identified proteins using MaxQuant/Perseus software platform. Data are available via ProteomeXchange with identifier PXD008119. We identified marginal differences between Mirasol PRT and Control PCs during storage. However, those significant changes at the proteome level were specifically related to the functional aspects previously described to affect platelets upon Mirasol PRT. In addition, the effect of Mirasol PRT on the platelet proteome appeared not to be exclusively due to an accelerated or enhanced PSL. In summary, semi-quantitative proteomics allows to discern between proteome changes due to

  10. Comprehensive behavioral study of mGluR3 knockout mice: implication in schizophrenia related endophenotypes

    Science.gov (United States)

    2014-01-01

    Background We previously performed systematic association studies of glutamate receptor gene family members with schizophrenia, and found positive associations of polymorphisms in the GRM3 (a gene of metabotropic glutamate receptor 3: mGluR3) with the disorder. Physiological roles of GRM3 in brain functions and its functional roles in the pathogenesis of schizophrenia remain to be resolved. Results We generated mGluR3 knockout (KO) mice and conducted comprehensive behavioral analyses. KO mice showed hyperactivity in the open field, light/dark transition, and 24-hour home cage monitoring tests, impaired reference memory for stressful events in the Porsolt forced swim test, impaired contextual memory in cued and contextual fear conditioning test, and impaired working memory in the T-Maze forced alternation task test. Hyperactivity and impaired working memory are known as endophenotypes of schizophrenia. We examined long-term synaptic plasticity by assessing long-term potentiation (LTP) in the CA1 region in the hippocampi of KO and wild-type (WT) mice. We observed no differences in the amplitude of LTP between the two genotypes, suggesting that mGluR3 is not essential for LTP in the CA1 region of the mouse hippocampus. As hyperactivity is typically associated with increased dopaminergic transmission, we performed in vivo microdialysis measurements of extracellular dopamine in the nucleus accumbens of KO and WT mice. We observed enhancements in the methamphetamine (MAP)-induced release of dopamine in KO mice. Conclusions These results demonstrate that a disturbance in the glutamate-dopamine interaction may be involved in the pathophysiology of schizophrenia-like behavior, such as hyperactivity in mGluR3 KO mice. PMID:24758191

  11. Sequential recruitment of study participants may inflate genetic heritability estimates.

    Science.gov (United States)

    Noce, Damia; Gögele, Martin; Schwienbacher, Christine; Caprioli, Giulia; De Grandi, Alessandro; Foco, Luisa; Platzgummer, Stefan; Pramstaller, Peter P; Pattaro, Cristian

    2017-06-01

    After the success of genome-wide association studies to uncover complex trait loci, attempts to explain the remaining genetic heritability (h 2 ) are mainly focused on unraveling rare variant associations and gene-gene or gene-environment interactions. Little attention is paid to the possibility that h 2 estimates are inflated as a consequence of the epidemiological study design. We studied the time series of 54 biochemical traits in 4373 individuals from the Cooperative Health Research In South Tyrol (CHRIS) study, a pedigree-based study enrolling ten participants/day over several years, with close relatives preferentially invited within the same day. We observed distributional changes of measured traits over time. We hypothesized that the combination of such changes with the pedigree structure might generate a shared-environment component with consequent h 2 inflation. We performed variance components (VC) h 2 estimation for all traits after accounting for the enrollment period in a linear mixed model (two-stage approach). Accounting for the enrollment period caused a median h 2 reduction of 4%. For 9 traits, the reduction was of >20%. Results were confirmed by a Bayesian Markov chain Monte Carlo analysis with all VCs included at the same time (one-stage approach). The electrolytes were the traits most affected by the enrollment period. The h 2 inflation was independent of the h 2 magnitude, laboratory protocol changes, and length of the enrollment period. The enrollment process may induce shared-environment effects even under very stringent and standardized operating procedures, causing h 2 inflation. Including the day of participation as a random effect is a sensitive way to avoid overestimation.

  12. Statistical Methods for Studying Genetic Variation in Populations

    Science.gov (United States)

    2012-08-01

    iteration will converge to a local optimum, similar to what happens in an EM algorithm. Empirically, a near global optimal can be obtained by multiple...and E Matthysen. Genetic variability and gene flow 131 in the globally , critically-endangered Taita thrush. Conservation Genetics, 1:45–55, 2000. 4.5.2...Libioulle, Edouard Louis, Sarah Hansoul, Cynthia Sandor, Frédéric Farnir, Denis Franchi - mont, Séverine Vermeire, Olivier Dewit, Martine de Vos, Anna

  13. Genetic influences on chronic obstructive pulmonary disease - a twin study

    DEFF Research Database (Denmark)

    Sylvan Ingebrigtsen, Truls; Thomsen, Simon Francis; Vestbo, Jørgen

    2010-01-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted.......Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted....

  14. Ensuring privacy in the study of pathogen genetics

    OpenAIRE

    Mehta, Sanjay R.; Vinterbo, Staal A.; Little, Susan J.

    2014-01-01

    Rapid growth in the genetic sequencing of pathogens in recent years has led to the creation of large sequence databases. This aggregated sequence data can be very useful for tracking and predicting epidemics of infectious diseases. However, the balance between the potential public health benefit and the risk to personal privacy for individuals whose genetic data (personal or pathogen) are included in such work has been difficult to delineate, because neither the true benefit nor the actual ri...

  15. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

    NARCIS (Netherlands)

    Beaumont, R.N. (Robin N.); N.M. Warrington (Nicole); A. Cavadino (Alana); A.W.R. Tyrrell; M. Nodzenski (Michael); M. Horikoshi (Momoko); F. Geller (Frank); R. Myhre (Ronny); R.C. Richmond (Rebecca C.); Paternoster, L. (Lavinia); J.P. Bradfield (Jonathan); E. Kreiner-Møller (Eskil); V. Huikari (Ville); S. Metrustry (Sarah); K.L. Lunetta (Kathryn); J.N. Painter (Jodie N.); J.J. Hottenga (Jouke Jan); C. Allard (Catherine); S.J. Barton (Sheila J.); Espinosa, A. (Ana); J.A. Marsh (Julie); C. Potter (Catherine); Zhang, G. (Ge); W.Q. Ang (Wei); D. Berry (Diane); L. Bouchard (Luigi); S. Das (Shikta); H. Hakonarson (Hakon); J. Heikkinen (Jani); Helgeland, Ø. (Øyvind); B. Hocher (Berthold); A. Hofman (Albert); H.M. Inskip (Hazel); S.E. Jones (Samuel E.); M. Kogevinas (Manolis); P.A. Lind (Penelope); L. Marullo (Letizia); S.E. Medland (Sarah Elizabeth); Murray, A. (Anna); Murray, J.C. (Jeffrey C.); Njølstad, P.R. (Pa l R.); C. Nohr (Christian); C. Reichetzeder (Christoph); S.M. Ring (Susan); K.S. Ruth (Katherine S.); L. Santa-Marina (Loreto); D.M. Scholtens (Denise M.); Sebert, S. (Sylvain); V. Sengpiel (Verena); Tuke, M.A. (Marcus A.); Vaudel, M. (Marc); M.N. Weedon (Michael); G.A.H.M. Willemsen (Gonneke); Wood, A.R. (Andrew R.); Yaghootkar, H. (Hanieh); Muglia, L.J. (Louis J.); M. Bartels (Meike); C.L. Relton (Caroline); C.E. Pennell (Craig); L. Chatzi (Leda); Estivill, X. (Xavier); Holloway, J.W. (John W.); D.I. Boomsma (Dorret); Montgomery, G.W. (Grant W.); J. Murabito (Joanne); T.D. Spector (Timothy); Power, C. (Christine); Järvelin, M.-R. (Marjo-Ritta); Bisgaard, H. (Hans); Grant, S.F.A. (Struan F.A.); Sørensen, T.I.A. (Thorkild I.A.); Jaddoe, V.W. (Vincent W.); B. Jacobsson (Bo); Melbye, M. (Mads); McCarthy, M.I. (Mark I.); A.T. Hattersley (Andrew); Hayes, M.G. (M. Geoffrey); T.M. Frayling (Timothy); M.-F. Hivert (Marie-France); J.F. Felix (Janine); Hyppönen, E. (Elina); Lowe, W.L. (William L.); Evans, D.M. (David M.); Lawlor, D.A. (Debbie A.); B. Feenstra (Bjarke); R.M. Freathy (Rachel)

    2018-01-01

    textabstractGenome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal

  16. An E-Learning Module to Improve Nongenetic Health Professionals' Assessment of Colorectal Cancer Genetic Risk: Feasibility Study.

    Science.gov (United States)

    Douma, Kirsten Freya Lea; Aalfs, Cora M; Dekker, Evelien; Tanis, Pieter J; Smets, Ellen M

    2017-12-18

    Nongenetic health providers may lack the relevant knowledge, experience, and communication skills to adequately detect familial colorectal cancer (CRC), despite a positive attitude toward the assessment of history of cancer in a family. Specific training may enable them to more optimally refer patients to genetic counseling. The aim of this study was to develop an e-learning module for gastroenterologists and surgeons (in training) aimed at improving attitudes, knowledge, and comprehension of communication skills, and to assess the feasibility of the e-learning module for continued medical education of these specialists. A focus group helped to inform the development of a training framework. The e-learning module was then developed, followed by a feasibility test among a group of surgeons-in-training (3rd- and 4th-year residents) and then among gastroenterologists, using pre- and posttest questionnaires. A total of 124 surgeons-in-training and 14 gastroenterologists participated. The e-learning was positively received (7.5 on a scale of 1 to 10). Between pre- and posttest, attitude increased significantly on 6 out of the 10 items. Mean test score showed that knowledge and comprehension of communication skills improved significantly from 49% to 72% correct at pretest to 67% to 87% correct at posttest. This study shows the feasibility of a problem-based e-learning module to help surgeons-in-training and gastroenterologists in recognizing a hereditary predisposition in patients with CRC. The e-learning led to improvements in attitude toward the assessment of cancer family history, knowledge on criteria for referral to genetic counseling for CRC, and comprehension of communication skills. ©Kirsten Freya Lea Douma, Cora M Aalfs, Evelien Dekker, Pieter J Tanis, Ellen M Smets. Originally published in JMIR Medical Education (http://mededu.jmir.org), 18.12.2017.

  17. An E-Learning Module to Improve Nongenetic Health Professionals’ Assessment of Colorectal Cancer Genetic Risk: Feasibility Study

    Science.gov (United States)

    Aalfs, Cora M; Dekker, Evelien; Tanis, Pieter J; Smets, Ellen M

    2017-01-01

    Background Nongenetic health providers may lack the relevant knowledge, experience, and communication skills to adequately detect familial colorectal cancer (CRC), despite a positive attitude toward the assessment of history of cancer in a family. Specific training may enable them to more optimally refer patients to genetic counseling. Objective The aim of this study was to develop an e-learning module for gastroenterologists and surgeons (in training) aimed at improving attitudes, knowledge, and comprehension of communication skills, and to assess the feasibility of the e-learning module for continued medical education of these specialists. Methods A focus group helped to inform the development of a training framework. The e-learning module was then developed, followed by a feasibility test among a group of surgeons-in-training (3rd- and 4th-year residents) and then among gastroenterologists, using pre- and posttest questionnaires. Results A total of 124 surgeons-in-training and 14 gastroenterologists participated. The e-learning was positively received (7.5 on a scale of 1 to 10). Between pre- and posttest, attitude increased significantly on 6 out of the 10 items. Mean test score showed that knowledge and comprehension of communication skills improved significantly from 49% to 72% correct at pretest to 67% to 87% correct at posttest. Conclusions This study shows the feasibility of a problem-based e-learning module to help surgeons-in-training and gastroenterologists in recognizing a hereditary predisposition in patients with CRC. The e-learning led to improvements in attitude toward the assessment of cancer family history, knowledge on criteria for referral to genetic counseling for CRC, and comprehension of communication skills. PMID:29254907

  18. A National Study of the Validity and Utility of the Comprehensive Assessment of School Environment (CASE) Survey

    Science.gov (United States)

    McGuffey, Amy R.

    2016-01-01

    A healthy school climate is necessary for improvement. The purpose of this study was to evaluate the construct validity and usability of the Comprehensive Assessment of School Environment (CASE) as it was purportedly realigned to the three dimensions of the Breaking Ranks Framework developed by the National Association of Secondary School…

  19. Dengue Seroprevalence and Risk Factors for Past and Recent Viral Transmission in Venezuela : A Comprehensive Community-Based Study

    NARCIS (Netherlands)

    Velasco-Salas, Zoraida I.; Sierra, Gloria M.; Guzman, Diamelis M.; Zambrano, Julio; Vivas, Daniel; Comach, Guillermo; Wilschut, Jan C.; Tami, Adriana

    Dengue transmission in Venezuela has become perennial and a major public health problem. The increase in frequency and magnitude of recent epidemics prompted a comprehensive community-based cross-sectional study of 2,014 individuals in high-incidence neighborhoods of Maracay, Venezuela. We found a

  20. The semantic network, lexical access, and reading comprehension in monolingual and bilingual children : An individual differences study

    NARCIS (Netherlands)

    Spätgens, T.; Schoonen, R.

    Using a semantic priming experiment, the influence of lexical access and knowledge of semantic relations on reading comprehension was studied in Dutch monolingual and bilingual minority children. Both context-independent semantic relations in the form of category coordinates and context-dependent

  1. Reading Strategy Use and Comprehension Performance of More Successful and Less Successful Readers: A Think-Aloud Study

    Science.gov (United States)

    Wang, Yen-Hui

    2016-01-01

    This study explores the differences between more successful and less successful EFL readers in their comprehension performance and abilities to use reading strategies in interaction with English texts through thinking aloud while reading in pairs. Ten freshman high school students participated in pairs in four think-aloud reading tasks to think…

  2. Self-Efficacy and Preparation of Scholarly Writing: Online Doctoral Coursework to Comprehensive Examination--a Mixed Method Study

    Science.gov (United States)

    Thomas, Sonya C.

    2013-01-01

    Writing is seldom explicitly taught, most specifically, in academic and scholarly writing. Therefore, this mixed methods correlational phenomenology research study explored the correlation between self-efficacy perception and course room preparation for the comprehensive examination, APA standards in the course room, APA standards evaluation for…

  3. An Empirical Study on the Application of Cooperative Learning to Comprehensive English Classes in a Chinese Independent College

    Science.gov (United States)

    Meng, Ji

    2017-01-01

    This research investigated a comparison between the effect of cooperative learning and lecture teaching on Comprehensive English classes in a Chinese Independent College. An empirical study for two semesters was carried out in the forms of pretest, posttest, questionnaire and interviews. While control class was taught in the conventional way,…

  4. The role of two reading strategies in text comprehension: An eye fixation study in primary school children

    NARCIS (Netherlands)

    van der Schoot, M.; Vasbinder, A.L.; Horsley, T.M.; van Lieshout, E.C.D.M.

    2008-01-01

    This study examined whether 10-12-year-old children use two reading strategies to aid their text comprehension: (1) distinguishing between important and unimportant words; and (2) resolving anaphoric references. Of interest was the question to what extent use of these reading strategies was

  5. Creating a Safe Space: A Case Study of Complex Trauma and a Call for Proactive Comprehensive Psychoeducational Assessments and Reviews

    Science.gov (United States)

    Mainwaring, Debra J.

    2015-01-01

    This article advocates for proactive, dynamic and comprehensive psycho-educational assessments for children and young people who have a history of complex trauma, because of its known effects on development and learning. A case study is shared of a young woman with a history of complex trauma because of exposure to parental neglect, multiple…

  6. Text-Based Vocabulary Intervention Training Study: Supporting Fourth Graders with Low Reading Comprehension and Learning Disabilities

    Science.gov (United States)

    Solís, Michael; Scammacca, Nancy; Barth, Amy E.; Roberts, Garrett J.

    2017-01-01

    This experimental study examined the effectiveness of a text-based reading and vocabulary intervention with self-regulatory supports for 4th graders with low reading comprehension. Students with standard scores on the Gates MacGinitie Reading Test between 1.0 standard deviation (SD) and 0.5 SD below the normative sample were included (N=44) and…

  7. Comprehensive Diagnostic Assessment of Health Status of Patients with Asthma or COPD : A Delphi Panel Study among Dutch Experts

    NARCIS (Netherlands)

    van den Akker, Edmée F M M; van't Hul, Alex J.; Birnie, Erwin; Chavannes, Niels H.; Rutten-van Mölken, Maureen P M H; In't Veen, Johannes C C M

    2017-01-01

    A comprehensive diagnostic assessment is needed to improve understanding of the health status of patients with chronic obstructive pulmonary disease (COPD) or asthma. Therefore, this study investigated which components and subsequent instruments should be part of a holistic assessment in secondary

  8. Open-Trial Pilot Study of a Comprehensive Outpatient Psychosocial Treatment for Children with High-Functioning Autism Spectrum Disorder

    Science.gov (United States)

    Lopata, Christopher; Lipinski, Alanna M.; Thomeer, Marcus L.; Rodgers, Jonathan D.; Donnelly, James P.; McDonald, Christin A.; Volker, Martin A.

    2017-01-01

    This study examined the feasibility and initial outcomes of a comprehensive outpatient psychosocial treatment (MAXout) for children aged 7-12 years with high-functioning autism spectrum disorder. The 18-week treatment, two 90-minute sessions per week, included instruction and therapeutic activities targeting social/social communication skills,…

  9. Shared Syntax in Language Production and Language Comprehension-An fMRI Study

    NARCIS (Netherlands)

    Segaert, K.R.; Menenti, L.M.E.; Weber, K.M.; Petersson, K.M.; Hagoort, P.

    2012-01-01

    During speaking and listening syntactic processing is a crucial step. It involves specifying syntactic relations between words in a sentence. If the production and comprehension modality share the neuronal substrate for syntactic processing then processing syntax in one modality should lead to

  10. Examining Associations among ADHD, Homework Behavior, and Reading Comprehension: A Twin Study

    Science.gov (United States)

    Little, Callie W.; Hart, Sara A.; Schatschneider, Christopher; Taylor, Jeanette

    2016-01-01

    Previous literature has indicated an important association between reading comprehension and both attention-deficit/hyperactivity disorder (ADHD) and homework habits. This investigation sought to extend previous knowledge by providing information about how ADHD and homework behavior (i.e., completing homework regularly) may jointly influence…

  11. Should Pantomime and Gesticulation Be Assessed Separately for Their Comprehensibility in Aphasia? A Case Study

    Science.gov (United States)

    van Nispen, Karin; van de Sandt-Koenderman, Mieke; Mol, Lisette; Krahmer, Emiel

    2014-01-01

    Background: Gesticulation (gestures accompanying speech) and pantomime (gestures in the absence of speech) can each be comprehensible. Little is known about the differences between these two gesture modes in people with aphasia. Aims: To discover whether there are differences in the communicative use of gesticulation and pantomime in QH, a person…

  12. Testing Audiovisual Comprehension Tasks with Questions Embedded in Videos as Subtitles: A Pilot Multimethod Study

    Science.gov (United States)

    Núñez, Juan Carlos Casañ

    2017-01-01

    Listening, watching, reading and writing simultaneously in a foreign language is very complex. This paper is part of wider research which explores the use of audiovisual comprehension questions imprinted in the video image in the form of subtitles and synchronized with the relevant fragments for the purpose of language learning and testing.…

  13. A comprehensive study of rate capability in Multi-Wire Proportional Chambers

    International Nuclear Information System (INIS)

    Andronic, A; Garabatos, C; Gonzalez-Diaz, D; Kalweit, A; Uhlig, F

    2009-01-01

    Systematic measurements on the rate capability of thin MWPCs operated in Xenon, Argon and Neon mixtures using CO 2 as UV-quencher are presented. A good agreement between data and existing models has been found, allowing us to present the rate capability of MWPCs in a comprehensive way and ultimately connect it with the mobilities of the drifting ions.

  14. The Relationship between Reading Comprehension, Decoding, and Fluency in Greek: A Cross-Sectional Study

    Science.gov (United States)

    Padeliadu, Susana; Antoniou, Faye

    2014-01-01

    Experts widely consider decoding and fluency as the basis of reading comprehension, while at the same time consistently documenting problems in these areas as major characteristics of students with learning disabilities. However, scholars have developed most of the relevant research within phonologically deep languages, wherein decoding problems…

  15. Comprehensive Mass Analysis for Chemical Processes, a Case Study on L-Dopa Manufacture

    Science.gov (United States)

    To evaluate the “greenness” of chemical processes in route selection and process development, we propose a comprehensive mass analysis to inform the stakeholders from different fields. This is carried out by characterizing the mass intensity for each contributing chemical or wast...

  16. Dissociable genetic contributions to error processing: a multimodal neuroimaging study.

    Directory of Open Access Journals (Sweden)

    Yigal Agam

    Full Text Available Neuroimaging studies reliably identify two markers of error commission: the error-related negativity (ERN, an event-related potential, and functional MRI activation of the dorsal anterior cingulate cortex (dACC. While theorized to reflect the same neural process, recent evidence suggests that the ERN arises from the posterior cingulate cortex not the dACC. Here, we tested the hypothesis that these two error markers also have different genetic mediation.We measured both error markers in a sample of 92 comprised of healthy individuals and those with diagnoses of schizophrenia, obsessive-compulsive disorder or autism spectrum disorder. Participants performed the same task during functional MRI and simultaneously acquired magnetoencephalography and electroencephalography. We examined the mediation of the error markers by two single nucleotide polymorphisms: dopamine D4 receptor (DRD4 C-521T (rs1800955, which has been associated with the ERN and methylenetetrahydrofolate reductase (MTHFR C677T (rs1801133, which has been associated with error-related dACC activation. We then compared the effects of each polymorphism on the two error markers modeled as a bivariate response.We replicated our previous report of a posterior cingulate source of the ERN in healthy participants in the schizophrenia and obsessive-compulsive disorder groups. The effect of genotype on error markers did not differ significantly by diagnostic group. DRD4 C-521T allele load had a significant linear effect on ERN amplitude, but not on dACC activation, and this difference was significant. MTHFR C677T allele load had a significant linear effect on dACC activation but not ERN amplitude, but the difference in effects on the two error markers was not significant.DRD4 C-521T, but not MTHFR C677T, had a significant differential effect on two canonical error markers. Together with the anatomical dissociation between the ERN and error-related dACC activation, these findings suggest that

  17. The Study of the Relation between Comprehension Process and Cognitive Capacities of Students in Mathematics

    Directory of Open Access Journals (Sweden)

    Afsaneh Poorang

    2014-03-01

    Full Text Available In the creation of substances for developing and thinking of cognitive levels in mathematics from elementary course and recognizing effective variables of all external factors of mathematics, researchers have considered through designing hypothesis and effort to find the relation of reading literacy level and cognitive levels in mathematics of fourth grade among girls and boys and cognitive capacities of them in Tehran. The evaluation of reading literacy with the definition of comprehension process as index in surface layers spectrum such as focusing and reviewing information that are be stated in text and directive induction has organized. On other hands, mathematics evaluation has implemented for both content and cognitive dimensions. Research process has formed with selecting eight schools and in two tests. Reading literacy tests with the aim of evaluation of comprehension process and math test with the aim of the evaluation of cognitive levels have implemented for two classes of each schools. Research hypotheses have tested based on researching positive correlative between surface layers of comprehension with cognitive levels in mathematics meaningfully that have organized in three levels of knowing, application and reasoning. Instrumentation of the performance of comprehension have included two literary-information texts of PIRLS test 2011 and the collection of two respected notebooks and instrumentation of performance of cognitive levels in mathematics such as on notebook of TIMSS 2011. The procedure of testing hypotheses with Spearman correlative coefficient method have performed that all hypotheses have accepted meaningfully. Therefore, there is significant and directive relation between comprehension processes as reading literacy with cognitive capacities of students in mathematics of fourth grade.

  18. Human genetic studies in areas of high natural radiation

    International Nuclear Information System (INIS)

    Freire-Maia, A.; Krieger, H.

    1978-01-01

    Data have been obtained by a genetic-epidemiological survey of a population living in the State of Espirito Santo (Brazil), and subjected to mean levels of natural radiation, per locality, ranging from 7 to 133 μrad/hr. Multiple regression models have been applied to the data, and the results showed no detectable effect of natural radiation on the sex ratio at birth, on the occurrence of congenital anomalies, and on the numbers of pregnancy terminations, stillbirths, livebirths, and post-infant mortality in the children, as well as fecundity and fertility of the couples (these observations contradict some data from the literature, based on official records and without analyses of the concomitant effects of other variables). However, nonsignificant results cannot be considered as disproving harmful effects of natural radiation on mortality and morbidity. These results may simply mean that other causes of mortality and morbidity are so important, under the conditions of the study, that the contribution of low-level, chronic natural radiation is made negligible. (author)

  19. A comprehensive simulation study on classification of RNA-Seq data.

    Directory of Open Access Journals (Sweden)

    Gökmen Zararsız

    Full Text Available RNA sequencing (RNA-Seq is a powerful technique for the gene-expression profiling of organisms that uses the capabilities of next-generation sequencing technologies. Developing gene-expression-based classification algorithms is an emerging powerful method for diagnosis, disease classification and monitoring at molecular level, as well as providing potential markers of diseases. Most of the statistical methods proposed for the classification of gene-expression data are either based on a continuous scale (eg. microarray data or require a normal distribution assumption. Hence, these methods cannot be directly applied to RNA-Seq data since they violate both data structure and distributional assumptions. However, it is possible to apply these algorithms with appropriate modifications to RNA-Seq data. One way is to develop count-based classifiers, such as Poisson linear discriminant analysis and negative binomial linear discriminant analysis. Another way is to bring the data closer to microarrays and apply microarray-based classifiers. In this study, we compared several classifiers including PLDA with and without power transformation, NBLDA, single SVM, bagging SVM (bagSVM, classification and regression trees (CART, and random forests (RF. We also examined the effect of several parameters such as overdispersion, sample size, number of genes, number of classes, differential-expression rate, and the transformation method on model performances. A comprehensive simulation study is conducted and the results are compared with the results of two miRNA and two mRNA experimental datasets. The results revealed that increasing the sample size, differential-expression rate and decreasing the dispersion parameter and number of groups lead to an increase in classification accuracy. Similar with differential-expression studies, the classification of RNA-Seq data requires careful attention when handling data overdispersion. We conclude that, as a count

  20. Scientific reporting is suboptimal for aspects that characterize genetic risk prediction studies: a review of published articles based on the Genetic RIsk Prediction Studies statement.

    Science.gov (United States)

    Iglesias, Adriana I; Mihaescu, Raluca; Ioannidis, John P A; Khoury, Muin J; Little, Julian; van Duijn, Cornelia M; Janssens, A Cecile J W

    2014-05-01

    Our main objective was to raise awareness of the areas that need improvements in the reporting of genetic risk prediction articles for future publications, based on the Genetic RIsk Prediction Studies (GRIPS) statement. We evaluated studies that developed or validated a prediction model based on multiple DNA variants, using empirical data, and were published in 2010. A data extraction form based on the 25 items of the GRIPS statement was created and piloted. Forty-two studies met our inclusion criteria. Overall, more than half of the evaluated items (34 of 62) were reported in at least 85% of included articles. Seventy-seven percentage of the articles were identified as genetic risk prediction studies through title assessment, but only 31% used the keywords recommended by GRIPS in the title or abstract. Seventy-four percentage mentioned which allele was the risk variant. Overall, only 10% of the articles reported all essential items needed to perform external validation of the risk model. Completeness of reporting in genetic risk prediction studies is adequate for general elements of study design but is suboptimal for several aspects that characterize genetic risk prediction studies such as description of the model construction. Improvements in the transparency of reporting of these aspects would facilitate the identification, replication, and application of genetic risk prediction models. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. A genetic study on attention problems and academic skills: results of a longitudinal study in twins

    NARCIS (Netherlands)

    Polderman, T.J.C.; Huizink, A.C.; Verhulst, F.C.; van Beijsterveldt, C.E.M.; Boomsma, D.I.; Bartels, M.

    2011-01-01

    Objective Several studies reported a negative association between ADHD symptoms and academic achievement. We investigated the etiology of the association between Attention Problems (AP, one of the core symptoms in ADHD) in early childhood and four academic skills across childhood in a genetically

  2. Hopefulness predicts resilience after hereditary colorectal cancer genetic testing: a prospective outcome trajectories study

    OpenAIRE

    Chu Annie TW; Bonanno George A; Ho Judy WC; Ho Samuel MY; Chan Emily MS

    2010-01-01

    Abstract Background - Genetic testing for hereditary colorectal cancer (HCRC) had significant psychological consequences for test recipients. This prospective longitudinal study investigated the factors that predict psychological resilience in adults undergoing genetic testing for HCRC. Methods - A longitudinal study was carried out from April 2003 to August 2006 on Hong Kong Chinese HCRC family members who were recruited and offered genetic testing by the Hereditary Gastrointestinal Cancer R...

  3. Nuclear medicine and imaging research. Quantitative studies in radiopharmaceutical science. Comprehensive progress report, January 1, 1983-June 30, 1985

    International Nuclear Information System (INIS)

    Beck, R.N.; Cooper, M.D.

    1985-09-01

    This comprehensive report outlines the progress made during the past three years in the areas described below. In all instances, initial studies have been carried out and the technical feasibility of carrying through each study has been demonstrated. The studies described include development of cesium-130 and bromine-75 radioisotope generators, the feasibility of using rubidium-82 as a myocardial imaging agent, and radiochemical preparation of C-11 deoxyglucose. 28 refs. (DT)

  4. Comprehensive Geriatric Assessment (CGA in general practice: Results from a pilot study in Vorarlberg, Austria

    Directory of Open Access Journals (Sweden)

    Mann Eva

    2004-05-01

    Full Text Available Abstract Background Most comprehensive geriatric assessment (CGA programs refer to hospital-based settings. However the body of geriatric healthcare is provided by general practitioners in their office. Structured geriatric problem detection by means of assessment instruments is crucial for efficient geriatric care giving in the community. Methods We developed and pilot tested a German language geriatric assessment instrument adapted for general practice. Nine general practices in a rural region of Austria participated in this cross-sectional study and consecutively enrolled 115 persons aged over 75 years. The prevalence of specific geriatric problems was assessed, as well as the frequency of initiated procedures following positive and negative tests. Whether findings were new to the physician was studied exemplarily for the items visual and hearing impairment and depression. The acceptability was recorded by means of self-administered questionnaires. Results On average, each patient reported 6.4 of 14 possible geriatric problems and further consequences resulted in 43.7% (27.5% to 59.8% of each problem. The items with either the highest prevalence and/or the highest number of initiated actions by the GPs were osteoporosis risk, urinary incontinence, decreased hearing acuity, missing pneumococcal vaccination and fall risk. Visual impairment was newly detected in only 18% whereas hearing impairment and depression was new to the physician in 74.1% and 76.5%, respectively. A substantial number of interventions were initiated not only following positive tests (43.7% per item; 95% CI 27.5% to 59.8%, but also as a consequence of negative test results (11.3% per item; 95% CI 1.7% to 20.9%. The mean time expenditure to accomplish the assessment was 31 minutes (SD 10 min. Patients (89% and all physicians confirmed the CGA to provide new information in general on the patient's health status. All physicians judged the CGA to be feasible in everyday

  5. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

    Science.gov (United States)

    Geelen, Els; Horstman, Klasien; Marcelis, Carlo L M; Doevendans, Pieter A; Van Hoyweghen, Ine

    2012-10-01

    Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

  6. A study on regional comprehensive performance evaluation indicator system of rational use of drugs

    Directory of Open Access Journals (Sweden)

    Sun Tongda

    2017-01-01

    Full Text Available The current research presents the design of a 4-degree-3-level performance evaluation indicator system of rational use of drugs for health care institutions accord with the Balanced Score Card (BSC method. Financial index, patient index, professional process index, and development and blazing new trials index are adopted in the light of scientific, guiding, operable and generalizable principles. The index weight is based on the analytic hierarchy process, and comprehensive performance evaluation indicators are calculated by a linear integrated weighting method. Its practical application in 21 state-run health care institutions in Ningbo, from 2008 to 2012, has arrived at the finding that the comprehensive performance evaluation indicator system offers a scientific, practical and effective performance management quantification and is thus worth popularizing.

  7. Effectiveness of a comprehensive psychoeducational intervention with pregnant and parenting adolescents: a pilot study.

    Science.gov (United States)

    Thomas, Deborah V; Looney, Stephen W

    2004-01-01

    Little is known about the effectiveness of a comprehensive psychoeducational intervention on depression, self-esteem, and parenting attitudes/beliefs of at-risk pregnant and parenting adolescents. Adolescents (N = 41) attending either a residential treatment facility (RTF) or a rural alternative school (RAS) participated in a psychoeducational parenting group using Bavolek's Nurturing Program during Phase I. Phase II included health promotion issues, infant massage, and CPR. Using the Parenting Semantic Differential and the AAPI-2, there was significant improvement in parenting attitudes and beliefs. No significant change was found in self-esteem. A comprehensive psychoeducational parenting group can be effective in changing parenting attitudes and beliefs, which suggests an ultimate improvement in health promotion and disease prevention in adolescent women and their children.

  8. A real world study on the genetic, cognitive and psychopathological differences of obese patients clustered according to eating behaviours.

    Science.gov (United States)

    Caroleo, Mariarita; Primerano, Amedeo; Rania, Marianna; Aloi, Matteo; Pugliese, Valentina; Magliocco, Fabio; Fazia, Gilda; Filippo, Andrea; Sinopoli, Flora; Ricchio, Marco; Arturi, Franco; Jimenez-Murcia, Susana; Fernandez-Aranda, Fernando; De Fazio, Pasquale; Segura-Garcia, Cristina

    2018-02-01

    Considering that specific genetic profiles, psychopathological conditions and neurobiological systems underlie human behaviours, the phenotypic differentiation of obese patients according to eating behaviours should be investigated. The aim of this study was to classify obese patients according to their eating behaviours and to compare these clusters in regard to psychopathology, personality traits, neurocognitive patterns and genetic profiles. A total of 201 obese outpatients seeking weight reduction treatment underwent a dietetic visit, psychological and psychiatric assessment and genotyping for SCL6A2 polymorphisms. Eating behaviours were clustered through two-step cluster analysis, and these clusters were subsequently compared. Two groups emerged: cluster 1 contained patients with predominantly prandial hyperphagia, social eating, an increased frequency of the long allele of the 5-HTTLPR and low scores in all tests; and cluster 2 included patients with more emotionally related eating behaviours (emotional eating, grazing, binge eating, night eating, post-dinner eating, craving for carbohydrates), dysfunctional personality traits, neurocognitive impairment, affective disorders and increased frequencies of the short (S) allele and the S/S genotype. Aside from binge eating, dysfunctional eating behaviours were useful symptoms to identify two different phenotypes of obese patients from a comprehensive set of parameters (genetic, clinical, personality and neuropsychology) in this sample. Grazing and emotional eating were the most important predictors for classifying obese patients, followed by binge eating. This clustering overcomes the idea that 'binging' is the predominant altered eating behaviour, and could help physicians other than psychiatrists to identify whether an obese patient has an eating disorder. Finally, recognising different types of obesity may not only allow a more comprehensive understanding of this illness, but also make it possible to tailor

  9. Green synthesis and characterization of silver nanoparticles using Artemisia absinthium aqueous extract — A comprehensive study

    International Nuclear Information System (INIS)

    Ali, Mohammad; Kim, Bosung; Belfield, Kevin D.; Norman, David; Brennan, Mary; Ali, Gul Shad

    2016-01-01

    Unlike chemical synthesis, biological synthesis of nanoparticles is gaining tremendous interest, and plant extracts are preferred over other biological sources due to their ample availability and wide array of reducing metabolites. In this project, we investigated the reducing potential of aqueous extract of Artemisia absinthium L. for synthesizing silver nanoparticles (AgNPs). Optimal synthesis of AgNPs with desirable physical and biological properties was investigated using ultra violet–visible spectroscopy (UV–vis), dynamic light scattering (DLS), transmission electron microscopy (TEM) and energy-dispersive X-ray analysis (EDX). To determine their appropriate concentrations for AgNP synthesis, two-fold dilutions of silver nitrate (20 to 0.62 mM) and aqueous plant extract (100 to 0.79 mg ml"−"1) were reacted. The results showed that silver nitrate (2 mM) and plant extract (10 mg ml"−"1) mixed in different ratios significantly affected size, stability and yield of AgNPs. Extract to AgNO_3 ratio of 6:4 v/v resulted in the highest conversion efficiency of AgNO_3 to AgNPs, with the particles in average size range of less than 100 nm. Furthermore, the direct imaging of synthesized AgNPs by TEM revealed polydispersed particles in the size range of 5 to 20 nm. Similarly, nanoparticles with the characteristic peak of silver were observed with EDX. This study presents a comprehensive investigation of the differential behavior of plant extract and AgNO_3 to synthesize biologically stable AgNPs. - Graphical abstract: Aqueous extract from Artemisia absinthium when used in appropriate ratio (shown in Eppendorf tubes and microtiter plate) is highly active in reducing elemental silver to colloidal silver nanoparticles in the 5–20 nm size range (shown in TEM image, bottom left panel; DLS histogram, upper left panel; EDX analysis, bottom right panel). - Highlights: • Artemisia absinthium extract provides excellent reducing potential for biosynthesis of silver

  10. Green synthesis and characterization of silver nanoparticles using Artemisia absinthium aqueous extract — A comprehensive study

    Energy Technology Data Exchange (ETDEWEB)

    Ali, Mohammad [Mid-Florida Research and Education Center and Department of Plant Pathology, University of Florida/Institute of Food and Agricultural Sciences, 2725 Binion Rd., Apopka, FL 32703 (United States); Kim, Bosung [Department of Chemistry, University of Central Florida, Orlando, FL 32816 (United States); Belfield, Kevin D. [Department of Chemistry, University of Central Florida, Orlando, FL 32816 (United States); College of Science and Liberal Arts, New Jersey Institute of Technology, Newark, NJ 07102 (United States); Norman, David; Brennan, Mary [Mid-Florida Research and Education Center and Department of Plant Pathology, University of Florida/Institute of Food and Agricultural Sciences, 2725 Binion Rd., Apopka, FL 32703 (United States); Ali, Gul Shad, E-mail: gsali@ufl.edu [Mid-Florida Research and Education Center and Department of Plant Pathology, University of Florida/Institute of Food and Agricultural Sciences, 2725 Binion Rd., Apopka, FL 32703 (United States)

    2016-01-01

    Unlike chemical synthesis, biological synthesis of nanoparticles is gaining tremendous interest, and plant extracts are preferred over other biological sources due to their ample availability and wide array of reducing metabolites. In this project, we investigated the reducing potential of aqueous extract of Artemisia absinthium L. for synthesizing silver nanoparticles (AgNPs). Optimal synthesis of AgNPs with desirable physical and biological properties was investigated using ultra violet–visible spectroscopy (UV–vis), dynamic light scattering (DLS), transmission electron microscopy (TEM) and energy-dispersive X-ray analysis (EDX). To determine their appropriate concentrations for AgNP synthesis, two-fold dilutions of silver nitrate (20 to 0.62 mM) and aqueous plant extract (100 to 0.79 mg ml{sup −1}) were reacted. The results showed that silver nitrate (2 mM) and plant extract (10 mg ml{sup −1}) mixed in different ratios significantly affected size, stability and yield of AgNPs. Extract to AgNO{sub 3} ratio of 6:4 v/v resulted in the highest conversion efficiency of AgNO{sub 3} to AgNPs, with the particles in average size range of less than 100 nm. Furthermore, the direct imaging of synthesized AgNPs by TEM revealed polydispersed particles in the size range of 5 to 20 nm. Similarly, nanoparticles with the characteristic peak of silver were observed with EDX. This study presents a comprehensive investigation of the differential behavior of plant extract and AgNO{sub 3} to synthesize biologically stable AgNPs. - Graphical abstract: Aqueous extract from Artemisia absinthium when used in appropriate ratio (shown in Eppendorf tubes and microtiter plate) is highly active in reducing elemental silver to colloidal silver nanoparticles in the 5–20 nm size range (shown in TEM image, bottom left panel; DLS histogram, upper left panel; EDX analysis, bottom right panel). - Highlights: • Artemisia absinthium extract provides excellent reducing potential for

  11. Comprehensive study of proteasome inhibitors against Plasmodium falciparum laboratory strains and field isolates from Gabon

    Directory of Open Access Journals (Sweden)

    Kremsner Peter G

    2008-09-01

    Full Text Available Abstract Background The emergence and spread of Plasmodium falciparum resistance to almost all available antimalarial drugs necessitates the search for new chemotherapeutic compounds. The ubiquitin/proteasome system plays a major role in overall protein turnover, especially in fast dividing eukaryotic cells including plasmodia. Previous studies show that the 20S proteasome is expressed and catalytically active in plasmodia and treatment with proteasome inhibitors arrests parasite growth. This is the first comprehensive screening of proteasome inhibitors with different chemical modes of action against laboratory strains of P. falciparum. Subsequently, a selection of inhibitors was tested in field isolates from Lambaréné, Gabon. Methods Epoxomicin, YU101, YU102, MG132, MG115, Z-L3-VS, Ada-Ahx3-L3-VS, lactacystin, bortezomib (Velcade®, gliotoxin, PR11 and PR39 were tested and compared to chloroquine- and artesunate-activities in a standardized in vitro drug susceptibility assay against P. falciparum laboratory strains 3D7, D10 and Dd2. Freshly obtained field isolates from Lambaréné, Gabon, were used to measure the activity of chloroquine, artesunate, epoxomicin, MG132, lactacystin and bortezomib. Parasite growth was detected through histidine-rich protein 2 (HRP2 production. Raw data were fitted by a four-parameter logistic model and individual inhibitory concentrations (50%, 90%, and 99% were calculated. Results Amongst all proteasome inhibitors tested, epoxomicin showed the highest activity in chloroquine-susceptible (IC50: 6.8 nM [3D7], 1.7 nM [D10] and in chloroquine-resistant laboratory strains (IC50: 10.4 nM [Dd2] as well as in field isolates (IC50: 8.5 nM. The comparator drug artesunate was even more active (IC50: 1.0 nM, whereas all strains were chloroquine-resistant (IC50: 113 nM. Conclusion The peptide α',β'-epoxyketone epoxomicin is highly active against P. falciparum regardless the grade of the parasite's chloroquine

  12. Retrieving Semantic and Syntactic Word Properties: ERP Studies on the Time Course in Language Comprehension

    OpenAIRE

    Müller, O.

    2006-01-01

    The present doctoral thesis investigates the temporal characteristics of the retrieval of semantic and syntactic word properties in language comprehension. In particular, an attempt is made to assess the retrieval order of semantic category and grammatical gender information, using the lateralized readiness potential and the inhibition-related N2 effect. Chapter 1 contains a general introduction. Chapter 2 reports an experiment that employs the two-choice go/nogo task in combination with EEG ...

  13. Limits for supersymmetry from a comprehensive study of CERN missing-energy events

    International Nuclear Information System (INIS)

    Barnett, R.M.

    1985-04-01

    We have performed a comprehensive analysis of supersymmetric processes which can lead to missing-energy events such as those observed by the UA1 collaboration. Several critical aspects of the theoretical analysis are discussed here including fragmentation, backgrounds, and evolution of gluinos. When the experimentalists publish their final data, excellent limits will be set for M/sub g/ and M/sub q/, and it is possible that certain mass regions will not be excluded as explanations of the data

  14. A Comprehensive Study of ULIRGs in the Herschel Very Wide Field Surveys

    Science.gov (United States)

    Yan, Haojing

    Extreme starbursting galaxies exist at all redshifts, and most of them are so heavily obscured by dust that they are Ultra-Luminous InfraRed Galaxies (ULIRGs) while being faint in optical to near-IR. The latest example is at record-high z=6.337, approaching the end of the reionization. There have been numerous suggestions that understanding ULIRG is critical in constructing a comprehensive picture of galaxy formation history. These range from the hypothesis three decades ago that the ULIRG phase is the prelude to QSO and large ellipticals, to the recent tentative evidence that ULIRG could make a large (if not dominant) contribution to the global star formation rate density (GSFRD) at z>1. However, the exact nature of ULIRG and their role in galaxy assembly still remain illusive, largely due to the limited sample size and the severe source confusion problem in the far-IR (FIR). The very wide field surveys by Herschel have provided the best opportunity to date to systematically study ULIRG beyond the local universe, most importantly because of their wide coverage and high sensitivity to probe large volumes to high redshifts and the multiple FIR bands that allow for direct measurement of the IR luminosities. We propose to construct the largest possible ULIRG sample in these fields at all redshifts, and to study the evolution of ULIRGs. We will concentrate on the HerMES, the H-ATLAS and the HerS programs whose data are already public. While the confusion problem still persists in these Herschel data, we have demonstrated that it is possible to directly use the position priors from optical images to decompose the candidate contributors to a given Herschel source if its S/N suffices (Yan et al. 2014). This is a significant improvement over previous studies where higher-resolution mid-IR (mostly Spitzer MIPS 24-micron) data had to be used as the proxies to the FIR source locations, because (1) such proxy images also suffer from the blending problem in the first place and

  15. Subsurface geology of the Lusi region: preliminary results from a comprehensive seismic-stratigraphic study.

    Science.gov (United States)

    Moscariello, Andrea; Do Couto, Damien; Lupi, Matteo; Mazzini, Adriano

    2016-04-01

    We investigate the subsurface data of a large sector in the Sidoarjo district (East Java, Indonesia) where the sudden catastrophic Lusi eruption started the 26th May 2006. Our goal is to understand the stratigraphic and structural features which can be genetically related to the surface manifestations of deep hydrothermal fluids and thus allow us to predict possible future similar phenomena in the region. In the framework of the Lusi Lab project (ERC grant n° 308126) we examined a series of densely spaced 2D reflection commercial seismic lines This allowed the reconstruction of the lateral variability of key stratigraphic horizons as well as the main tectonic features. In particular, we shed light on the deep structure of the Watukosek fault system and the associated fracture corridors crossing the entire stratigraphic successions. To the South-West, when approaching the volcanic complex, we could identify a clear contrast in seismic facies between chaotic volcanoclastic wedges and clastic-prone sedimentary successions as well as between the deeper stratigraphic units consisting of carbonates and lateral shales units. The latter show possible ductile deformation associated to fault-controlled diapirism which control in turns deformation of overlying stratigraphic units and deep geo-fluids circulation. Large collapse structures recognized in the study area (e.g. well PRG-1) are interpreted as the results of shale movement at depth. Similarly to Lusi, vertical deformation zones ("pipes"), likely associated with deeply rooted strike-slip systems seem to be often located at the interface between harder carbonate rocks forming isolated build ups and the laterally nearby clastic (shale-prone)-units. The mechanisms of deformation of structural features (strike vs dip slip systems) which may affect either the basement rock or the overlying deeper stratigraphic rocks is also being investigated to understand the relationship between deep and shallower (i.e. meteoric) fluid

  16. The Effect of Case Teaching on Meaningful and Retentive Learning When Studying Genetic Engineering

    Science.gov (United States)

    Güccük, Ahmet; Köksal, Mustafa Serdar

    2017-01-01

    The purpose of this study is to investigate the effects of case teaching on how students learn about genetic engineering, in terms of meaningful learning and retention of learning. The study was designed as quasi-experimental research including 63 8th graders (28 boys and 35 girls). To collect data, genetic engineering achievement tests were…

  17. Combinations of genetic data in a study of neuroblastoma risk genotypes

    DEFF Research Database (Denmark)

    Capasso, Mario; Calabrese, Francesco Maria; Iolascon, Achille

    2014-01-01

    Analysis of combinations of genetic changes that occur exclusively in patients may be a supplementary strategy to the single-locus strategy used in many genetic studies. The genotypes of 16 SNPs within susceptibility loci for neuroblastoma (NB) were analyzed in a previous study. In the present...

  18. Genetic study of Andalusia's ovine and caprine breeds.

    Science.gov (United States)

    Rodero, E; Haba, M R; Rodero, A

    1997-01-12

    Two different breeds of Andalusian sheep, 'Grazalema Merino' and 'Lebrijan Churro', and two different breeds of Andalusian goats, 'Andalusian White' and 'Andalusian Black', chosen by previous studies (Rodero et al. 1992a) as priority breeds for conservation, were studied. The systems used corresponded to ethnozootechnic characteristics, as well as the different biochemical-polymorphism variables. Farms were differentiated within breeds, or between themselves, and different tests were used of genetic and genotypic frequencies: Wright's indices, medium heterozygosities, Whalund's variances, G test of probability of reason, etc. Also Cavalli-Sforza's genetic distance was obtained. In the Andalusian Black and Grazalema Merino breeds, the Whalund's variances obtained were a result of selection, that has divided the breeds into distinct populations differentiated spatially. Medium heterozygosities of each breed do not differ much within themselves, but when each system is considered alone, discrepancies between ethnic groups are relevant. Wright's F indices demonstrated in the Andalusian White and Grazalema Merino breeds, genetic heterozygosities between populations or studied herds can be deduced, but this is not possible in the Andalusian Black. The F(IS) values indicated, despite the small size of the populations, that inbreeding has been avoided, probably because of the entry of foreign sires. In none of the breeds is there a significant excess of heterozygosis. The genetic distances between flocks within breeds do not differ from those found between breeds. RÉSUMÉ: On a travallé avec, differents troupeau des races de montons de l'Andalusie, Grazalema Merino et Lebrija Churro, et avec les races caprines Andalusian White et Andalusian Black, choisie entre les races Andaluciennes comme prioritaires pour la conservation, dans un etudie avant (Rodero et col. 1992a). Les sistémes utilicés dans cette travaille correspondent á charactérés etnozootechniques et

  19. Genetic and histopathology studies on mice: Effect of fenugreek oil ...

    African Journals Online (AJOL)

    There is a growing interest in understanding the biological effect of medicinal plants. In the present investigation, the effects of fenugreek oil administration on the liver and ovarian activity genetically (i.e., meiotic progression in collected oocytes as well as changes in DNA and RNA content in the liver and ovarian tissues) ...

  20. Study of genetic diversity in finger millet (Eleusine coracana L ...

    African Journals Online (AJOL)

    STORAGESEVER

    2010-07-19

    Jul 19, 2010 ... Radioactive detection. Yes/No. No. Yes/No. No. Yes/No. Yes/No. Development costs. Medium. Low. Medium. Medium/High. High. Medium. Start-up costs. Medium/High. Low. Medium. High. High. Medium. Applications. Genetic diversity, polyploidy, hybridization, phylogeny, mating system. Fingerprinting,.

  1. Use of Genetic Models to Study the Urinary Concentrating Mechanism

    DEFF Research Database (Denmark)

    Olesen, Emma Tina Bisgaard; Kortenoeven, Marleen L.A.; Fenton, Robert A.

    2015-01-01

    technology is providing critical new information about urinary concentrating processes and thus mechanisms for maintaining body water homeostasis. In this chapter we provide a brief overview of genetic mouse model generation, and then summarize findings in transgenic and knockout mice pertinent to our...

  2. What Can the Study of Genetics Offer to Educators?

    Science.gov (United States)

    Thomas, Michael S. C.; Kovas, Yulia; Meaburn, Emma L.; Tolmie, Andrew

    2015-01-01

    This article explores the potential contribution of modern genetic methods and findings to education. It is familiar to hear that the "gene" for this or that behavior has been discovered, or that certain skills are "highly heritable." Can this help educators? To explore this question, we describe the methods used to relate…

  3. Study of genetic variation in population of Bipolaris victoriae, the ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-11-19

    Nov 19, 2008 ... Isolates of Bipolaris victoriae were analysed by random amplified polymorphic DNA (RAPD) techniques ... According to the protocol, samples ... and fungus species. But some of the isolates of fungus with high genetic similarity have the same origin (Figure. 1). Weikert et al. (2002) reported that species of ...

  4. Molecular genetic diversity study of Lepidium sativum population ...

    African Journals Online (AJOL)

    Vostro 2520

    Generally, Tigray and Amhara regions showed moderate to high diversity in ISSR analysis. ... other crops. The main purpose of its cultivation in. Ethiopia is to use it as a medicinal plant. It is used for human abdominal ache and diarrhea. Moreover, L. ... of 10 primers were obtained from the Genetic Research Laboratory.

  5. Genetic Diversity in Durum Wheat in Palestine: A Comparative Study

    African Journals Online (AJOL)

    NNU

    2012-08-16

    Aug 16, 2012 ... natural habitats and field edges and landraces grown under traditional farming systems (Isaac and Gasteyer,. 1995). Morphological variation exists among these ... have become a basic and essential tool for detecting genetic variation and elucidating unknown DNA sequences (Newton and Graham, 1994).

  6. A unifying study of phenotypic and molecular genetic variability in ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... Home; Journals; Journal of Genetics; Volume 93; Issue 1 ... Populations from the Paranaense biogeographic province showed the highest mean value of number of seeds per fruit making them valuable as well with regard to the exploitation of management strategies as a ... Please take note of this change.

  7. A genetic-epidemiologic study of Alzheimer’s disease

    NARCIS (Netherlands)

    A. Arias-Vásquez (Alejandro)

    2006-01-01

    textabstractAlzheimer's disease (AD) is the most frequent cause of dementia and thus is a major public-health problem. Age and genetic predisposition to the disease are the most important risk factors. In 2001 more than 24 million people in the western world had dementia. This number is expected to

  8. Genetic study of Dravidian castes of Tamil Nadu

    Indian Academy of Sciences (India)

    of 256 base pairs (bp) of a 285-bp Alu element at the CD4 locus (Edwards and ..... out procedure for extracting DNA from human nucleated cells. Nucleic Acids ... Ota T. 1993 DISPAN: Genetic distance and phylogenetic analysis. Pennsylvania ...

  9. Genetic study of congenital limb anomalies among Egyptian children

    African Journals Online (AJOL)

    All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination.

  10. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    Science.gov (United States)

    Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

    2014-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

  11. A comprehensive study into the molecular methodology and molecular biology of methanogenic Archaea

    DEFF Research Database (Denmark)

    Lange, M.; Ahring, Birgitte Kiær

    2001-01-01

    Methanogens belong to the kingdom of Euryarchaeota in the domain of Archaea. The Archaea differ from Bacteria in many aspects important to molecular work. Among these are cell wall composition, their sensitivity to antibiotics, their translation and transcription machinery, and their very strict ...... procedures. Efficient genetic manipulation systems, including shuttle and integration vector systems, have appeared for mesophilic, but not for thermophilic species within the last few years and will have a major impact on future investigations of methanogenic molecular biology....

  12. A new lead from genetic studies in depressed siblings: assessing studies of chromosome 3.

    Science.gov (United States)

    Hamilton, Steven P

    2011-08-01

    Studies by Breen et al. and Pergadia et al. find evidence for genetic linkage between major depressive disorder and the same region on chromosome 3. The linked region contains the gene GRM7, which encodes a protein for the metabotropic glutamate receptor 7 (mGluR7). Both studies used affected sibling pairs, and neither was able to replicate its finding using association studies in individuals from larger population-based studies. Other family-based studies have also failed to find a signal in this region. Furthermore, there are some differences in how the phenotype was classified, with Breen et al. finding evidence only in the most severely affected patients. Nonetheless, the finding is not without other substantive support. A meta-analysis of 3,957 case subjects with major depressive disorder and 3,428 control subjects from the Sequenced Treatment Alternatives to Relieve Depression (STAR*D), Genetics of Recurrent Early-onset Depression (GenRED), and the Genetic Association Information Network-MDD (GAIN-MDD) data sets demonstrated a region of association for major depressive disorder within GRM7. Thus, the significance of this finding remains uncertain, although it points to a gene that might hold significant promise for further developments in studying the pathophysiology and treatment of major depressive disorder.

  13. Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

    Science.gov (United States)

    Yatsenko, Alexander N.; Yatsenko, Svetlana A.; Weedin, John W.; Lawrence, Amy E.; Patel, Ankita; Peacock, Sandra; Matzuk, Martin M.; Lamb, Dolores J.; Cheung, Sau Wai; Lipshultz, Larry I.

    2010-01-01

    Purpose The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. Materials and Methods High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. Results The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Conclusions Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood. PMID:20172548

  14. Genetic Complexity of Episodic Memory: A Twin Approach to Studies of Aging

    Science.gov (United States)

    Kremen, William S.; Spoon, Kelly M.; Jacobson, Kristen C.; Vasilopoulos, Terrie; McCaffery, Jeanne M.; Panizzon, Matthew S.; Franz, Carol E.; Vuoksimaa, Eero; Xian, Hong; Rana, Brinda K.; Toomey, Rosemary; McKenzie, Ruth; Lyons, Michael J.

    2016-01-01

    Episodic memory change is a central issue in cognitive aging, and understanding that process will require elucidation of its genetic underpinnings. A key limiting factor in genetically informed research on memory has been lack of attention to genetic and phenotypic complexity, as if “memory is memory” and all well-validated assessments are essentially equivalent. Here we applied multivariate twin models to data from late-middle-aged participants in the Vietnam Era Twin Study of Aging to examine the genetic architecture of 6 measures from 3 standard neuropsychological tests: the California Verbal Learning Test-2, and Wechsler Memory Scale-III Logical Memory (LM) and Visual Reproductions (VR). An advantage of the twin method is that it can estimate the extent to which latent genetic influences are shared or independent across different measures before knowing which specific genes are involved. The best-fitting model was a higher order common pathways model with a heritable higher order general episodic memory factor and three test-specific subfactors. More importantly, substantial genetic variance was accounted for by genetic influences that were specific to the latent LM and VR subfactors (28% and 30%, respectively) and independent of the general factor. Such unique genetic influences could partially account for replication failures. Moreover, if different genes influence different memory phenotypes, they could well have different age-related trajectories. This approach represents an important step toward providing critical information for all types of genetically informative studies of aging and memory. PMID:24956007

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

    Science.gov (United States)

    Li, A; Meyre, D

    2013-04-01

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

  16. Comprehensive pelvic floor physical therapy program for men with idiopathic chronic pelvic pain syndrome: a prospective study

    OpenAIRE

    Masterson, Thomas A.; Masterson, John M.; Azzinaro, Jessica; Manderson, Lattoya; Swain, Sanjaya; Ramasamy, Ranjith

    2017-01-01

    Background Male chronic pelvic pain syndrome (CPPS) is a heterogeneous constellation of symptoms that causes significant impairment and is often challenging to treat. In this prospective study, we evaluated men with CPPS who underwent comprehensive pelvic floor physical therapy (PFPT) program. We used the previously validated Genitourinary Pain Index (GUPI) to measure outcomes. Methods We included 14 men who underwent physical therapy for idiopathic CPPS from October 2015 to October 2016. Men...

  17. How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

    Science.gov (United States)

    Ostergren, Jenny E; Gornick, Michele C; Carere, Deanna Alexis; Kalia, Sarah S; Uhlmann, Wendy R; Ruffin, Mack T; Mountain, Joanna L; Green, Robert C; Roberts, J Scott

    2015-01-01

    To assess customer comprehension of health-related personal genomic testing (PGT) results. We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer's disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics. © 2015 S. Karger AG, Basel.

  18. Comprehensive evaluation of wind speed distribution models: A case study for North Dakota sites

    International Nuclear Information System (INIS)

    Zhou Junyi; Erdem, Ergin; Li Gong; Shi Jing

    2010-01-01

    Accurate analysis of long term wind data is critical to the estimation of wind energy potential for a candidate location and its nearby area. Investigating the wind speed distribution is one critical task for this purpose. This paper presents a comprehensive evaluation on probability density functions for the wind speed data from five representative sites in North Dakota. Besides the popular Weibull and Rayleigh distributions, we also include other distributions such as gamma, lognormal, inverse Gaussian, and maximum entropy principle (MEP) derived probability density functions (PDFs). Six goodness-of-fit (GOF) statistics are used to determine the appropriate distributions for the wind speed data for each site. It is found that no particular distribution outperforms others for all five sites, while Rayleigh distribution performs poorly for most of the sites. Similar to other models, the performances of MEP-derived PDFs in fitting wind speed data varies from site to site. Also, the results demonstrate that MEP-derived PDFs are flexible and have the potential to capture other possible distribution patterns of wind speed data. Meanwhile, different GOF statistics may generate inconsistent ranking orders of fit performance among the candidate PDFs. In addition, one comprehensive metric that combines all individual statistics is proposed to rank the overall performance for the chosen statistical distributions.

  19. Are the Cochrane group registers comprehensive? A case study of Japanese psychiatry trials

    Directory of Open Access Journals (Sweden)

    McGuire Hugh

    2002-04-01

    Full Text Available Abstract Background Language bias is a form of publication bias and constitutes a serious threat to meta-analyses. The Cochrane Controlled Trials Register is one attempt to remedy this and now contains more than 300,000 citations. However we are still unsure if it provides comprehensive coverage, particularly for non-English trials. Methods We have recently established a comprehensive register of Japanese trials of psychotropic drugs through extensive personal contacts, electronic searches and handsearches. We examined two Cochrane psychiatry group registers against this Japanese database. Results The Japanese register contained 56 reports of randomized controlled trials (RCTs of antidepressants for depression but the Cochrane Depression, Anxiety and Neurosis group register contained 18, with an overlap of only nine. The Japanese register contained 61 reports of RCTs of neuroleptics for schizophrenia and the Cochrane Schizophrenia group register contained 36, with an overlap of only six. Taking account of some duplicate publications, only a quarter to a third of all relevant Japanese RCTs were retrievable from the Cochrane group registers. Conclusions Similar, or worse, yields may be expected with RCTs conducted in other East Asian countries, and in other fields of medicine. What evidence there is suggests that this situation may lead to a systematic over estimate of treatment effect.

  20. Semantic brain areas are involved in gesture comprehension: An electrical neuroimaging study.

    Science.gov (United States)

    Proverbio, Alice Mado; Gabaro, Veronica; Orlandi, Andrea; Zani, Alberto

    2015-08-01

    While the mechanism of sign language comprehension in deaf people has been widely investigated, little is known about the neural underpinnings of spontaneous gesture comprehension in healthy speakers. Bioelectrical responses to 800 pictures of actors showing common Italian gestures (e.g., emblems, deictic or iconic gestures) were recorded in 14 persons. Stimuli were selected from a wider corpus of 1122 gestures. Half of the pictures were preceded by an incongruent description. ERPs were recorded from 128 sites while participants decided whether the stimulus was congruent. Congruent pictures elicited a posterior P300 followed by late positivity, while incongruent gestures elicited an anterior N400 response. N400 generators were investigated with swLORETA reconstruction. Processing of congruent gestures activated face- and body-related visual areas (e.g., BA19, BA37, BA22), the left angular gyrus, mirror fronto/parietal areas. The incongruent-congruent contrast particularly stimulated linguistic and semantic brain areas, such as the left medial and the superior temporal lobe. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Human genetics studies in areas of high natural radiation, 7

    International Nuclear Information System (INIS)

    Freire-Maia, A.

    1975-01-01

    Two methods to estimate the inbreeding load, employed in our analysis, are reviewed. Besides the total population, a sample constituted of individuals with no alien ancestral is also analysed. The measurements by genetic load models show any clear effect of natural radioactivity (especially for abortions, pre-natal mortality, anomalies, and abnormalities in general). The results on stillbirths and post-natal and total mortalities are discussed and it is concluded that uncontrolled concomitant variables (if not chance alone) cause the differences [pt

  2. The use of genetic methods to study Eurasian otters

    Czech Academy of Sciences Publication Activity Database

    Hájková, Petra; Gettová, Lenka; Sládkovičová, V.; Zemanová, Barbora

    Supp., - (2011), s. 102 ISSN 0394-1914. [International Otter Colloquium /11./. 30.08.2011-04.09.2011, Pavia] R&D Projects: GA AV ČR KJB600930804; GA MŽP SP/2D4/16/08; GA ČR GA206/03/0757 Institutional research plan: CEZ:AV0Z60930519 Keywords : Eurasian otter * genetic analyses Subject RIV: EG - Zoology http://www.internationalottercolloquium2010.eu/files/proceedings_iucn_xi_ioc_2011.pdf

  3. Exposing College Students to Exercise: The Training Interventions and Genetics of Exercise Response (TIGER) Study

    Science.gov (United States)

    Sailors, Mary H.; Jackson, Andrew S.; McFarlin, Brian K.; Turpin, Ian; Ellis, Kenneth J.; Foreyt, John P.; Hoelscher, Deanna M.; Bray, Molly S.

    2010-01-01

    Objective: The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. Participants: A multiracial/ethnic cohort (N = 1,567; 39% male), age 18 to 35 years,…

  4. Genetic Thinking in the Study of Social Relationships: Five Points of Entry.

    Science.gov (United States)

    Reiss, David

    2010-09-01

    For nearly a generation, researchers studying human behavioral development have combined genetically informed research designs with careful measures of social relationships such as parenting, sibling relationships, peer relationships, marital processes, social class stratifications, and patterns of social engagement in the elderly. In what way have these genetically informed studies altered the construction and testing of social theories of human development? We consider five points of entry where genetic thinking is taking hold. First, genetic findings suggest an alternative scenario for explaining social data. Associations between measures of the social environment and human development may be due to genes that influence both. Second, genetic studies add to other prompts to study the early developmental origins of current social phenomena in midlife and beyond. Third, genetic analyses promise to shed light on understudied social systems, such as sibling relationships, that have an impact on human development independent of genotype. Fourth, genetic analyses anchor in neurobiology individual differences in resilience and sensitivity to both adverse and favorable social environments. Finally, genetic analyses increase the utility of laboratory simulations of human social processes and of animal models. © The Author(s) 2010.

  5. Genetic studies of freshwater turtle and tortoises: a review of the past 70 years

    Science.gov (United States)

    FitzSimmons, Nancy N.; Hart, Kristen M.

    2007-01-01

    Powerful molecular techniques have been developed over many decades for resolving genetic relationships, population genetic structure, patterns of gene flow, mating systems, and the amount of genetic diversity in animals. Genetic studies of turtles were among the earliest and the rapid application of new genetic tools and analytical techniques is still apparent in the literature on turtles. At present, of the 198 freshwater turtles and tortoises that are listed as not extinct by the IUCN Red List, 69 species worldwide are listed as endangered or critically endangered, and an additional 56 species are listed as vulnerable. Of the ca. 300 species of the freshwater turtles and tortoises in the world, ca. 42% are considered to be facing a high risk extinction, and there is a need to focus intense conservation attention on these species. This includes a need to (i) assess our current state of knowledge regarding the application of genetics to studies of freshwater turtles and tortoises and (ii) determine future research directions. Here, we review all available published studies for the past 70 years that were written in English and used genetic markers (e.g. karyotypes, allozymes, DNA loci) to better understand the biology of freshwater turtles and tortoises. We review the types of studies conducted in relation to the species studied and quantify the countries where the studies were performed. We rack the changing use of different genetic markers through time and report on studies focused on aspects of molecular evolution within turtle genomes. We address the usefulness of particular genetic markers to answer phylogenetic questions and present data comparing population genetic structure and mating systems across species. We draw specific attention to whether authors have considered issues to turtle conservation in their research or provided new insights that have been translated into recommendations for conservation management.

  6. The double pedigree: a method for studying culturally and genetically inherited behavior in tandem.

    Directory of Open Access Journals (Sweden)

    Etienne Danchin

    Full Text Available Transgenerational sources of biological variation have been at the center of evolutionary studies ever since Darwin and Wallace identified natural selection. This is because evolution can only operate on traits whose variation is transmitted, i.e. traits that are heritable. The discovery of genetic inheritance has led to a semantic shift, resulting in the tendency to consider that only genes are inherited across generations. Today, however, concepts of heredity are being broadened again to integrate the accruing evidence of non-genetic inheritance, and many evolutionary biologists are calling for the inclusion of non-genetic inheritance into an inclusive evolutionary synthesis. Here, we focus on social heredity and its role in the inheritance of behavioral traits. We discuss quantitative genetics methods that might allow us to disentangle genetic and non-genetic transmission in natural populations with known pedigrees. We then propose an experimental design based on cross-fostering among animal cultures, environments and families that has the potential to partition inherited phenotypic variation into socially (i.e. culturally and genetically inherited components. This approach builds towards a new conceptual framework based on the use of an extended version of the animal model of quantitative genetics to integrate genetic and cultural components of behavioral inheritance.

  7. 77 FR 48993 - Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and...

    Science.gov (United States)

    2012-08-15

    ... Genetic and Environmental Risk Factors for Breast Cancer SUMMARY: In compliance with the requirement of... proposed data collection projects, the National Institute of Environmental Health Sciences (NIEHS), the... Sister Study: A Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer. Type...

  8. A Comparative Study of the Effects of Two Approaches of Dynamic Assessment on the Reading Comprehension of Iranian EFL Learners

    Directory of Open Access Journals (Sweden)

    Jila Naeini

    2015-03-01

    Full Text Available The aim of this study was to examine and compare the impact of two Dynamic Assessment (DA approaches, that is, Feuerstein’s Mediated Learning Experience (MLE and Brown’s Graduated Prompt (GP on Iranian EFL learners’ reading comprehension. Therefore, a mixed methods approach consisting of a semi-structured interview, a pretest, an intervention program, a posttest, and a transfer test was applied to assess and compare the efficacy of two DA approaches. One hundred and two EFL learners taking a General English course at Islamic Azad University were assigned to two experimental groups (MLEG and GPG and one comparison group (CG. The participants in the MLEG took part in the MLE, and the participants in the GPG participated in the GP intervention program.  The results of the qualitative as well as the aggregate and disaggregated quantitative data analyses indicated that both intervention approaches of DA were effective in enhancing the learners’ reading comprehension.

  9. Deficits in working memory, reading comprehension and arithmetic skills in children with mouth breathing syndrome: analytical cross-sectional study.

    Science.gov (United States)

    Kuroishi, Rita Cristina Sadako; Garcia, Ricardo Basso; Valera, Fabiana Cardoso Pereira; Anselmo-Lima, Wilma Terezinha; Fukuda, Marisa Tomoe Hebihara

    2015-01-01

    Mouth breathing syndrome is very common among school-age children, and it is possibly related to learning difficulties and low academic achievement. In this study, we investigated working memory, reading comprehension and arithmetic skills in children with nasal and mouth breathing. Analytical cross-sectional study with control group conducted in a public university hospital. 42 children (mean age = 8.7 years) who had been identified as mouth breathers were compared with a control group (mean age = 8.4 years) matched for age and schooling. All the participants underwent a clinical interview, tone audiometry, otorhinolaryngological evaluation and cognitive assessment of phonological working memory (numbers and pseudowords), reading comprehension and arithmetic skills. Children with mouth breathing had poorer performance than controls, regarding reading comprehension (P = 0.006), arithmetic (P = 0.025) and working memory for pseudowords (P = 0.002), but not for numbers (P = 0.76). Children with mouth breathing have low academic achievement and poorer phonological working memory than controls. Teachers and healthcare professionals should be aware of the association of mouth breathing with children's physical and cognitive health.

  10. Deficits in working memory, reading comprehension and arithmetic skills in children with mouth breathing syndrome: analytical cross-sectional study

    Directory of Open Access Journals (Sweden)

    Rita Cristina Sadako Kuroishi

    Full Text Available CONTEXT AND OBJECTIVE: Mouth breathing syndrome is very common among school-age children, and it is possibly related to learning difficulties and low academic achievement. In this study, we investigated working memory, reading comprehension and arithmetic skills in children with nasal and mouth breathing. DESIGN AND SETTING: Analytical cross-sectional study with control group conducted in a public university hospital. METHODS: 42 children (mean age = 8.7 years who had been identified as mouth breathers were compared with a control group (mean age = 8.4 years matched for age and schooling. All the participants underwent a clinical interview, tone audiometry, otorhinolaryngological evaluation and cognitive assessment of phonological working memory (numbers and pseudowords, reading comprehension and arithmetic skills. RESULTS: Children with mouth breathing had poorer performance than controls, regarding reading comprehension (P = 0.006, arithmetic (P = 0.025 and working memory for pseudowords (P = 0.002, but not for numbers (P = 0.76. CONCLUSION: Children with mouth breathing have low academic achievement and poorer phonological working memory than controls. Teachers and healthcare professionals should be aware of the association of mouth breathing with children's physical and cognitive health.

  11. Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention.

    Science.gov (United States)

    Grant, Richard W; Meigs, James B; Florez, Jose C; Park, Elyse R; Green, Robert C; Waxler, Jessica L; Delahanty, Linda M; O'Brien, Kelsey E

    2011-10-01

    The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. This paper presents key issues in the design and implementation of one of the first randomized trials (The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention) to test whether knowledge of diabetes genetic risk can motivate patients to adopt healthier behaviors. Because individuals may react differently to receiving 'higher' vs 'lower' genetic risk results, we designed a 3-arm parallel group study to separately test the hypotheses that: (1) patients receiving 'higher' diabetes genetic risk results will increase healthy behaviors compared to untested controls, and (2) patients receiving 'lower' diabetes genetic risk results will decrease healthy behaviors compared to untested controls. In this paper we describe several challenges to implementing this study, including: (1) the application of a novel diabetes risk score derived from genetic epidemiology studies to a clinical population, (2) the use of the principle of Mendelian randomization to efficiently exclude 'average' diabetes genetic risk patients from the intervention, and (3) the development of a diabetes genetic risk counseling intervention that maintained the ethical need to motivate behavior change in both 'higher' and 'lower' diabetes genetic risk result recipients. Diabetes genetic risk scores were developed by aggregating the results of 36 diabetes-associated single nucleotide polymorphisms. Relative risk for type 2 diabetes was calculated using Framingham Offspring Study outcomes, grouped by quartiles into 'higher', 'average' (middle two quartiles) and 'lower' genetic risk. From these relative risks, revised absolute risks were estimated using the overall absolute risk for the study group. For study efficiency, we excluded all patients receiving 'average' diabetes risk results from the subsequent intervention. This post-randomization allocation strategy was

  12. A Study of Wind Turbine Comprehensive Operational Assessment Model Based on EM-PCA Algorithm

    Science.gov (United States)

    Zhou, Minqiang; Xu, Bin; Zhan, Yangyan; Ren, Danyuan; Liu, Dexing

    2018-01-01

    To assess wind turbine performance accurately and provide theoretical basis for wind farm management, a hybrid assessment model based on Entropy Method and Principle Component Analysis (EM-PCA) was established, which took most factors of operational performance into consideration and reach to a comprehensive result. To verify the model, six wind turbines were chosen as the research objects, the ranking obtained by the method proposed in the paper were 4#>6#>1#>5#>2#>3#, which are completely in conformity with the theoretical ranking, which indicates that the reliability and effectiveness of the EM-PCA method are high. The method could give guidance for processing unit state comparison among different units and launching wind farm operational assessment.

  13. Psychosocial student functioning in comprehensive dental clinic education: A qualitative study

    DEFF Research Database (Denmark)

    Moore, Rod

    2018-01-01

    also rated their perceived stress using a 0-10 scale, where 0 is no stress, and 10 is highest stress. Qualitative analyses involved searching for recurring themes and discovery of categories of clinical and social functioning. All 8 students were revisited as dentists after 8 years and filled out a 15...... expectations and worries about how others perceived them. Dys-Grp experienced higher negative stress and maladaptive perfectionism and described crying behaviours, withdrawal and unwillingness to cooperate with others. In contrast, students in F+Grp provided rich content about mutual cooperation related...... to social networking and positive support. The 8 subjects exhibited high internal consistency (α = .98) in their responses to the follow-up survey about their first year of clinic. Conclusions: The comprehensive care teaching clinic environment with students working in groups appeared to provide...

  14. Improving adolescent pregnancy outcomes and maternal health:a case study of comprehensive case managed services.

    Science.gov (United States)

    Bowman, Elizabeth K; Palley, Howard A

    2003-01-01

    Our findings indicate how health outcomes regarding adolescent pregnancy and maternal and infant health care are intertwined with a case management process that fosters measures that are social in nature-the provision of direct services, as well as the encouragement of informal social supports systems. They also show how case managed services in a small, nongovernmental organization (NGO) with a strong commitment to its clients may provide the spontaneity and caring which results in a "match" between client needs and the delivery of services-and positive outcomes for pregnant women, early maternal health and infant health. The delivery of such case managed services in a manner which is intensive, comprehensive, flexible and integrated contributes significantly to such improved health outcomes.

  15. Computerized tools in psychology: cross cultural and genetically informative studies of memory

    Directory of Open Access Journals (Sweden)

    Ismatullina V.

    2016-01-01

    Full Text Available In this article we presented the computerized tools for psychological studies of memory. The importance of implementing computerized automated tools for psychological studies is discussed. It has been shown that this tools can be used both for cross-cultural and genetically informative studies. The validity of these tools for cross-cultural and genetically informative studies of memory can be seen as the first step to use automated computerized tools for big data collection in psychology.

  16. Molecular Markers for Genetic Diversity Studies of European Hare (Lepus europaeus Pallas, 1778 Populations

    Directory of Open Access Journals (Sweden)

    Noémi Soós

    2015-05-01

    Full Text Available The purpose of this article is to give an overview of different molecular techniques which have been used in studies concerning population genetic issues of Lepus species and specifically of L. europaeus. The importance of these researches is ever-growing as the European populations of the brown hare have suffered several falloffs as a consequent upon both natural and anthropogenic effects. With developing tools and techniques molecular genetics have become the centrepiece of population genetics and conservation biology. Nucleic acid methods based on both bi- and uniparentally inherited DNA (allozymes, microsatellites, Y chromosome, mtDNA are often used to study genetic structure, diversity and phylogeography of different species’ populations due to their effectiveness in identifying genetic variability

  17. Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy

    Science.gov (United States)

    Douglas, Darlene S.; Popko, Brian

    2009-01-01

    Forward genetics, the phenotype-driven approach to investigating gene identity and function, has a long history in mouse genetics. Random mutations in the mouse transcend bias about gene function and provide avenues towards unique discoveries. The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. Even as spontaneous and mutagenized mice continue to enable the identification of novel genes, provide allelic series for detailed functional studies, and generate models useful for clinical research, new methods, such as the piggyBac transposon, are being developed to further harness the power of forward genetics. PMID:18481175

  18. Psychosocial student functioning in comprehensive dental clinic education: A qualitative study.

    Science.gov (United States)

    Moore, R

    2018-02-17

    The aims were to describe first-year clinical dental students' psychosocial experiences in a known well-functioning comprehensive clinic teaching group (F+Grp) and a known dysfunctional group (Dys-Grp) and, thus, discover and describe phenomena related to psychosocial functioning of students. These groups were compared and contrasted regarding negative stress symptoms, perfectionism and coping with stress. Eight female dental students (mean 26 years old), four in each group, were interviewed after the first clinical year about learning and emotional experiences. The students also rated their perceived stress using a 0-10 scale, where 0 is no stress, and 10 is highest stress. Qualitative analyses involved searching for recurring themes and discovery of categories of clinical and social functioning. All 8 students were revisited as dentists after 8 years and filled out a 15-item survey as longitudinal validation of their first-year clinical experiences and to estimate group consensus and informant accuracy. Both groups suffered from negative stress symptoms attributed to lack of time for clinical tasks, worries about work quality with confusion about their own expectations and worries about how others perceived them. Dys-Grp experienced higher negative stress and maladaptive perfectionism and described crying behaviours, withdrawal and unwillingness to cooperate with others. In contrast, students in F+Grp provided rich content about mutual cooperation related to social networking and positive support. The 8 subjects exhibited high internal consistency (α  =  .98) in their responses to the follow-up survey about their first year of clinic. The comprehensive care teaching clinic environment with students working in groups appeared to provide a possibility for students to support each other for improved stress coping. Unfortunately, the opposite also occurred. Positive, supportive teacher supervision of student challenges related to perfectionism and stress is

  19. Application of hierarchical genetic models to Raven and WAIS subtests: a Dutch twin study.

    Science.gov (United States)

    Rijsdijk, Frühling V; Vernon, P A; Boomsma, Dorret I

    2002-05-01

    Hierarchical models of intelligence are highly informative and widely accepted. Application of these models to twin data, however, is sparse. This paper addresses the question of how a genetic hierarchical model fits the Wechsler Adult Intelligence Scale (WAIS) subtests and the Raven Standard Progressive test score, collected in 194 18-year-old Dutch twin pairs. We investigated whether first-order group factors possess genetic and environmental variance independent of the higher-order general factor and whether the hierarchical structure is significant for all sources of variance. A hierarchical model with the 3 Cohen group-factors (verbal comprehension, perceptual organisation and freedom-from-distractibility) and a higher-order g factor showed the best fit to the phenotypic data and to additive genetic influences (A), whereas the unique environmental source of variance (E) could be modeled by a single general factor and specifics. There was no evidence for common environmental influences. The covariation among the WAIS group factors and the covariation between the group factors and the Raven is predominantly influenced by a second-order genetic factor and strongly support the notion of a biological basis of g.

  20. Genetic test feedback with weight control advice: study protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Meisel Susanne F

    2012-12-01

    Full Text Available Abstract Background Genetic testing for risk of weight gain is already available over the internet despite uncertain benefits and concerns about adverse emotional or behavioral effects. Few studies have assessed the effect of adding genetic test feedback to weight control advice, even though one of the proposed applications of genetic testing is to stimulate preventive action. This study will investigate the motivational effect of adding genetic test feedback to simple weight control advice in a situation where weight gain is relatively common. Methods/design First-year university students (n = 800 will be randomized to receive either 1 their personal genetic test result for a gene (FTO related to weight gain susceptibility in addition to a leaflet with simple weight control advice (‘Feedback + Advice’ group, FA, or 2 only the leaflet containing simple weight control advice (‘Advice Only’ group, AO. Motivation to avoid weight gain and active use of weight control strategies will be assessed one month after receipt of the leaflet with or without genetic test feedback. Weight and body fat will be measured at baseline and eight months follow-up. We will also assess short-term psychological reactions to the genetic test result. In addition, we will explore interactions between feedback condition and gene test status. Discussion We hope to provide a first indication of the clinical utility of weight-related genetic test feedback in the prevention context. Trial registration Current controlled trials ISRCTN91178663