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Sample records for systematic genetic nomenclature

  1. Developing a community-based genetic nomenclature for anole lizards

    Directory of Open Access Journals (Sweden)

    Kusumi Kenro

    2011-11-01

    Full Text Available Abstract Background Comparative studies of amniotes have been hindered by a dearth of reptilian molecular sequences. With the genomic assembly of the green anole, Anolis carolinensis available, non-avian reptilian genes can now be compared to mammalian, avian, and amphibian homologs. Furthermore, with more than 350 extant species in the genus Anolis, anoles are an unparalleled example of tetrapod genetic diversity and divergence. As an important ecological, genetic and now genomic reference, it is imperative to develop a standardized Anolis gene nomenclature alongside associated vocabularies and other useful metrics. Results Here we report the formation of the Anolis Gene Nomenclature Committee (AGNC and propose a standardized evolutionary characterization code that will help researchers to define gene orthology and paralogy with tetrapod homologs, provide a system for naming novel genes in Anolis and other reptiles, furnish abbreviations to facilitate comparative studies among the Anolis species and related iguanid squamates, and classify the geographical origins of Anolis subpopulations. Conclusions This report has been generated in close consultation with members of the Anolis and genomic research communities, and using public database resources including NCBI and Ensembl. Updates will continue to be regularly posted to new research community websites such as lizardbase. We anticipate that this standardized gene nomenclature will facilitate the accessibility of reptilian sequences for comparative studies among tetrapods and will further serve as a template for other communities in their sequencing and annotation initiatives.

  2. Nomenclature and Terminology of Organic Chemistry. I. Sixty Years of Croatian Nomenclature of Organic Chemistry

    OpenAIRE

    Rapić, V.; Varga-Defterdarović, L.

    2013-01-01

    This article describes the history and development of the Croatian nomenclature of organic chemistry from the publication of the first translation of international nomenclature recommendations to the present age. In the Introduction, trivial, common, systematic (rational), and semisystematic names are defined, and the etymology and meaning of terms nomenclature and terminology are clarified.At the beginning of the central part of this article, attention is focused on the need to create our na...

  3. Gazetteer of Planetary Nomenclature

    Data.gov (United States)

    National Aeronautics and Space Administration — Planetary nomenclature, like terrestrial nomenclature, is used to uniquely identify a feature on the surface of a planet or satellite so that the feature can be...

  4. Standardized gene nomenclature for the Brassica genus

    Directory of Open Access Journals (Sweden)

    King Graham J

    2008-05-01

    Full Text Available Abstract The genus Brassica (Brassicaceae, Brassiceae is closely related to the model plant Arabidopsis, and includes several important crop plants. Against the background of ongoing genome sequencing, and in line with efforts to standardize and simplify description of genetic entities, we propose a standard systematic gene nomenclature system for the Brassica genus. This is based upon concatenating abbreviated categories, where these are listed in descending order of significance from left to right (i.e. genus – species – genome – gene name – locus – allele. Indicative examples are provided, and the considerations and recommendations for use are discussed, including outlining the relationship with functionally well-characterized Arabidopsis orthologues. A Brassica Gene Registry has been established under the auspices of the Multinational Brassica Genome Project that will enable management of gene names within the research community, and includes provisional allocation of standard names to genes previously described in the literature or in sequence repositories. The proposed standardization of Brassica gene nomenclature has been distributed to editors of plant and genetics journals and curators of sequence repositories, so that it can be adopted universally.

  5. Reflections on a systematic nomenclature for antimicrobial peptides from the skins of frogs of the family Ranidae.

    Science.gov (United States)

    Conlon, J Michael

    2008-10-01

    Frogs belonging to the extensive family Ranidae represent a valuable source of antimicrobial peptides with therapeutic potential but there is currently no consistent system of nomenclature to describe these peptides. Terminology based solely on species name does not reflect the evolutionary relationships existing between peptides encoded by orthologous and paralogous genes. On the basis of limited structural similarity, at least 14 well-established peptide families have been identified (brevinin-1, brevinin-2, esculentin-1, esculentin-2, japonicin-1, japonicin-2, nigrocin-2, palustrin-1, palustrin-2, ranacyclin, ranalexin, ranatuerin-1, ranatuerin-2, temporin). It is proposed that terms that are synonymous with these names should no longer be used. Orthologous peptides from different species may be characterized by the initial letter of that species, set in upper case, with paralogs belonging to the same peptide family being assigned letters set in lower case, e.g. brevinin-1Pa, brevinin-1Pb, etc. When two species begin with the same initial letter, two letters may be used, e.g. P for pipiens and PL for palustris. Species names and assignments to genera may be obtained from Amphibian Species of the World Electronic Database, accessible at http://research.amnh.org/herpetology/amphibia/index.php. American Museum of Natural History, New York, USA.

  6. Nomenclature and Terminology of Organic Chemistry. I. Sixty Years of Croatian Nomenclature of Organic Chemistry

    Directory of Open Access Journals (Sweden)

    Rapić, V.

    2013-07-01

    Full Text Available This article describes the history and development of the Croatian nomenclature of organic chemistry from the publication of the first translation of international nomenclature recommendations to the present age. In the Introduction, trivial, common, systematic (rational, and semisystematic names are defined, and the etymology and meaning of terms nomenclature and terminology are clarified.At the beginning of the central part of this article, attention is focused on the need to create our national nomenclature. The very first such project, initiated by the Croatian Chemical Society (CCS, was the translation of the Geneva (1892 and Lie`ge rules (1930 published in 1954. In 1979 comprehensive general IUPAC rules appeared, and the Croatian Society of Chemical Engineers (CSCE in two volumes printed the Croatian edition of this important document, known as the Blue Book, in 1985 and 1988. A Guide to IUPAC Nomenclature of Organic Compounds (1993 expanded the main principles and rules from the Blue Book, and introduced a higher degree of organic nomenclature systematization. The Croatian translation of the Guide was published in 2002. In the last six decades, almost fifty translations of international rules have been issued, and almost all of them represented the official recommendations of the CCS/CSCE. Finally, the nomenclature in the translations of five comprehensive textbooks fororganic chemistry is analysed.In conclusion, readers are informed that the Croatian version of IUPAC rules is applied in our secondary school and university education, in Croatian encyclopaedism and mass media, as well.

  7. A simplified laminin nomenclature

    DEFF Research Database (Denmark)

    Aumailley, Monique; Bruckner-Tudermann, Leena; Carter, William G.

    2005-01-01

    A simplification of the laminin nomenclature is presented. Laminins are multidomain heterotrimers composed of alpha, beta and gamma chains. Previously, laminin trimers were numbered with Arabic numerals in the order discovered, that is laminins-1 to -5. We introduce a new identification system fo...

  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. Standard Mutation Nomenclature in Molecular Diagnostics

    Science.gov (United States)

    Ogino, Shuji; Gulley, Margaret L.; den Dunnen, Johan T.; Wilson, Robert B.

    2007-01-01

    To translate basic research findings into clinical practice, it is essential that information about mutations and variations in the human genome are communicated easily and unequivocally. Unfortunately, there has been much confusion regarding the description of genetic sequence variants. This is largely because research articles that first report novel sequence variants do not often use standard nomenclature, and the final genomic sequence is compiled over many separate entries. In this article, we discuss issues crucial to clear communication, using examples of genes that are commonly assayed in clinical laboratories. Although molecular diagnostics is a dynamic field, this should not inhibit the need for and movement toward consensus nomenclature for accurate reporting among laboratories. Our aim is to alert laboratory scientists and other health care professionals to the important issues and provide a foundation for further discussions that will ultimately lead to solutions. PMID:17251329

  10. Nomenclature on an inorganic compound

    International Nuclear Information System (INIS)

    1998-10-01

    This book contains eleven chapters : which mention nomenclature of an inorganic compound with introduction and general principle on nomenclature of compound. It gives the description of grammar for nomenclature such as brackets, diagonal line, asterisk, and affix, element, atom and groups of atom, chemical formula, naming by stoichiometry, solid, neutral molecule compound, ion, a substituent, radical and name of salt, oxo acid and anion on introduction and definition of oxo acid, coordination compound like symbol of stereochemistry , boron and hydrogen compound and related compound.

  11. Nomenclature for Engineered Bamboo

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    Xianmiao Liu

    2015-12-01

    Full Text Available In recent years, there has been a rapid rise in the development of engineered bamboo materials, which have the potential to play an important role as alternatives to conventional building materials. Despite the growing diversity of bamboo products available on the market, the international standardization of both bamboo products and their constituent elements is limited, and a lack of universal nomenclature is recognized as one of the main constraints on developing standards. Similar or identical terminology is used interchangeably to describe different bamboo elements, processes, or products across sectors and continents. In some cases, translated colloquial names are misleading and scientifically inaccurate, which forms a barrier to global collaboration and research, creates ambiguity, and potentially limits trade. The present work aims to address this gap by proposing a set of appropriate terms in English that accurately describe and differentiate between currently produced engineered bamboo products and their constituent elements, accompanied by parallel terms in Chinese and Spanish. From these, new categories of engineered bamboo building materials are proposed for the Harmonized System of product codes. This paper highlights current ambiguities and provides terminology together with clear definitions of the main primary elements, processing steps, and products.

  12. Genetic predisposition to salt-sensitivity : a systematic review

    NARCIS (Netherlands)

    Beeks, Esther; Kessels, Alfons G H; Kroon, Abraham A; van der Klauw, Melanie M; de Leeuw, Peter W

    PURPOSE: To assess the role of genetic polymorphisms in salt sensitivity of blood pressure. DATA IDENTIFICATION: We conducted a systematic review by searching the Medline literature from March 1993 to June 2003. Each paper was scrutinized and data concerning study population, method of salt

  13. CD Nomenclature 2015: Human Leukocyte Differentiation Antigen Workshops as a Driving Force in Immunology

    Czech Academy of Sciences Publication Activity Database

    Engel, P.; Boumsell, L.; Balderas, R.; Gattei, V.; Hořejší, Václav; Jin, B.Q.; Malavasi, F.; Mortari, F.; Schwartz-Albiez, R.; Stockinger, H.; van Zelm, M.C.; Zola, H.; Clark, G.

    2015-01-01

    Roč. 165, č. 10 (2015), s. 4555-4563 ISSN 0022-1767 Institutional support: RVO:68378050 Keywords : CD nomenclature, , * leukocyte antigens * HLDA workshop Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.985, year: 2015

  14. Fungal Nomenclature at IMC10: Report of the Nomenclature Sessions.

    Science.gov (United States)

    Redhead, Scott A; Demoulin, Vincent; Hawksworth, David L; Seifert, Keith A; Turland, Nicholas J

    2014-12-01

    Three Nomenclature Sessions were convened during the 10(th) International Mycological Congress (IMC10) in Bangkok on 3-8 August 2014. In addition a Questionnaire was given to all delegates. This Report reviews and summarizes the views expressed in the Sessions and in the responses to the Questionnaire. The issues covered related to aspects of: registration, protected names, forgotten names, pleomorphic fungi, lichenized fungi, typification, diagnoses, and governance. In addition, reports were received from working groups preparing lists of names to be proposed for protection, and controversial cases of competing names were discussed. The Congress was mandated to ratify decisions of the Nomenclature Committee for Fungi (NCF) on the appointment of repositories for the registration of new fungal names. After discussion in the Sessions on the decision of the NCF to appoint three such bodies, a Resolution to that effect was approved by the Congress. The Congress also adopted a Resolution asking that the opinions of mycologists on future directions for the nomenclature of fungi be taken into account in formulating changes in the rules for consideration at the International Botanical Congress in 2017.

  15. A revised nomenclature for transcribed human endogenous retroviral loci

    Science.gov (United States)

    2011-01-01

    Background Endogenous retroviruses (ERVs) and ERV-like sequences comprise 8% of the human genome. A hitherto unknown proportion of ERV loci are transcribed and thus contribute to the human transcriptome. A small proportion of these loci encode functional proteins. As the role of ERVs in normal and diseased biological processes is not yet established, transcribed ERV loci are of particular interest. As more transcribed ERV loci are likely to be identified in the near future, the development of a systematic nomenclature is important to ensure that all information on each locus can be easily retrieved. Results Here we present a revised nomenclature of transcribed human endogenous retroviral loci that sorts loci into groups based on Repbase classifications. Each symbol is of the format ERV + group symbol + unique number. Group symbols are based on a mixture of Repbase designations and well-supported symbols used in the literature. The presented guidelines will allow newly identified loci to be easily incorporated into the scheme. Conclusions The naming system will be employed by the HUGO Gene Nomenclature Committee for naming transcribed human ERV loci. We hope that the system will contribute to clarifying a certain aspect of a sometimes confusing nomenclature for human endogenous retroviruses. The presented system may also be employed for naming transcribed loci of human non-ERV repeat loci. PMID:21542922

  16. A Systematic Bayesian Integration of Epidemiological and Genetic Data

    Science.gov (United States)

    Lau, Max S. Y.; Marion, Glenn; Streftaris, George; Gibson, Gavin

    2015-01-01

    Genetic sequence data on pathogens have great potential to inform inference of their transmission dynamics ultimately leading to better disease control. Where genetic change and disease transmission occur on comparable timescales additional information can be inferred via the joint analysis of such genetic sequence data and epidemiological observations based on clinical symptoms and diagnostic tests. Although recently introduced approaches represent substantial progress, for computational reasons they approximate genuine joint inference of disease dynamics and genetic change in the pathogen population, capturing partially the joint epidemiological-evolutionary dynamics. Improved methods are needed to fully integrate such genetic data with epidemiological observations, for achieving a more robust inference of the transmission tree and other key epidemiological parameters such as latent periods. Here, building on current literature, a novel Bayesian framework is proposed that infers simultaneously and explicitly the transmission tree and unobserved transmitted pathogen sequences. Our framework facilitates the use of realistic likelihood functions and enables systematic and genuine joint inference of the epidemiological-evolutionary process from partially observed outbreaks. Using simulated data it is shown that this approach is able to infer accurately joint epidemiological-evolutionary dynamics, even when pathogen sequences and epidemiological data are incomplete, and when sequences are available for only a fraction of exposures. These results also characterise and quantify the value of incomplete and partial sequence data, which has important implications for sampling design, and demonstrate the abilities of the introduced method to identify multiple clusters within an outbreak. The framework is used to analyse an outbreak of foot-and-mouth disease in the UK, enhancing current understanding of its transmission dynamics and evolutionary process. PMID:26599399

  17. Nomenclatural adjustments in African plants 1

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    Peter Goldblatt

    2014-12-01

    Full Text Available Background: Ongoing systematic studies of the African flora necessitate periodic nomenclatural adjustments and corrections. Objectives: To effect requisite nomenclatural changes. Method: Relevant literature was surveyed and type material located and studied. Results: Nomenclatural corrections were published in Justicia L. (Acanthaceae, Babiana KerGawl. and Geissorhiza Ker Gawl. (Iridaceae and Zaluzianskya F.W.Schmidt (Scrophulariaceae. Conclusions: Firstly, a complete enumeration of all southern African species of Justicia was provided within the infrageneric classification for the genus accepted by Graham (1988 and later modified and expanded by Ensermu (1990 and Hedrén (1990. In this circumscription, Justicia includes such well-established segregates in an African context as Adhatoda Miller, Aulojusticia Lindau, Duvernoia E.Mey. ex Nees, Monechma Hochst. and Siphonoglossa Oersted.Both southern African species of Adhatoda were transferred to Justicia, as well as all of the southern African species of Monechma, with eight new combinations or replacement names provided. All species were placed to section within Justicia. Secondly, the type of Gladiolus nervosus Lam. (1788 was considered to be conspecific with Gladiolus strictus Aiton (1789 and is therefore the earliest available name for the species currently known as Babiana stricta (Aiton Ker Gawl. The new combination Babiana nervosa (Lam. Goldblatt & J.C.Manning was provided. Thirdly, Geissorhiza ornithogaloides has been regarded as a new species described by F.W. Klatt (1866 but the name should be treated as the combination G. ornithogaloides (Lichst. ex Roem. & Schult. Klatt, based on Ixia ornithogaloides Lichst. ex Roem. & Schult.(1817a. Examination of the type showed that it is conspecific with Geissorhiza marlothii R.C.Foster (1941 and it is therefore the valid name for the taxon treated as G. ornithogaloides subsp. marlothii (R.C.Foster Goldblatt. An epitype for the taxon was designated

  18. Usage of cell nomenclature in biomedical literature

    KAUST Repository

    Kafkas, Senay

    2017-12-21

    Background Cell lines and cell types are extensively studied in biomedical research yielding to a significant amount of publications each year. Identifying cell lines and cell types precisely in publications is crucial for science reproducibility and knowledge integration. There are efforts for standardisation of the cell nomenclature based on ontology development to support FAIR principles of the cell knowledge. However, it is important to analyse the usage of cell nomenclature in publications at a large scale for understanding the level of uptake of cell nomenclature in literature by scientists. In this study, we analyse the usage of cell nomenclature, both in Vivo, and in Vitro in biomedical literature by using text mining methods and present our results. Results We identified 59% of the cell type classes in the Cell Ontology and 13% of the cell line classes in the Cell Line Ontology in the literature. Our analysis showed that cell line nomenclature is much more ambiguous compared to the cell type nomenclature. However, trends indicate that standardised nomenclature for cell lines and cell types are being increasingly used in publications by the scientists. Conclusions Our findings provide an insight to understand how experimental cells are described in publications and may allow for an improved standardisation of cell type and cell line nomenclature as well as can be utilised to develop efficient text mining applications on cell types and cell lines. All data generated in this study is available at https://github.com/shenay/CellNomenclatureStudy.

  19. Systematic reconstruction of autism biology from massive genetic mutation profiles.

    Science.gov (United States)

    Luo, Weijun; Zhang, Chaolin; Jiang, Yong-Hui; Brouwer, Cory R

    2018-04-01

    Autism spectrum disorder (ASD) affects 1% of world population and has become a pressing medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD has been intensively studied and thousands of gene mutations have been reported. Because these mutations rarely recur, it is difficult to (i) pinpoint the fewer disease-causing versus majority random events and (ii) replicate or verify independent studies. A coherent and systematic understanding of autism biology has not been achieved. We analyzed 3392 and 4792 autism-related mutations from two large-scale whole-exome studies across multiple resolution levels, that is, variants (single-nucleotide), genes (protein-coding unit), and pathways (molecular module). These mutations do not recur or replicate at the variant level, but significantly and increasingly do so at gene and pathway levels. Genetic association reveals a novel gene + pathway dual-hit model, where the mutation burden becomes less relevant. In multiple independent analyses, hundreds of variants or genes repeatedly converge to several canonical pathways, either novel or literature-supported. These pathways define recurrent and systematic ASD biology, distinct from previously reported gene groups or networks. They also present a catalog of novel ASD risk factors including 118 variants and 72 genes. At a subpathway level, most variants disrupt the pathway-related gene functions, and in the same gene, they tend to hit residues extremely close to each other and in the same domain. Multiple interacting variants spotlight key modules, including the cAMP (adenosine 3',5'-monophosphate) second-messenger system and mGluR (metabotropic glutamate receptor) signaling regulation by GRKs (G protein-coupled receptor kinases). At a superpathway level, distinct pathways further interconnect and converge to three biology themes: synaptic function, morphology, and plasticity.

  20. 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

  1. Rhexifolia versus Rhexiifolia: Plant Nomenclature Run Amok?

    Science.gov (United States)

    R. Kasten Dumroese; Mark W. Skinner

    2005-01-01

    The International Botanical Congress governs plant nomenclature worldwide through the International Code of Botanical Nomenclature. In the current code are very specific procedures for naming plants with novel compound epithets, and correcting compound epithets, like rhexifolia, that were incorrectly combined.We discuss why rhexiifolia...

  2. Correct nomenclature for the Angadimogar pluton, Kerala ...

    Indian Academy of Sciences (India)

    The proper usage of modal composition and geochemical classification of granitoids is discussed for assigning a proper nomenclature for the Angadimogar pluton, Kerala, southwestern India. This discussion is mainly aimed at addressing questions concerning the nomenclature of Angadimogar pluton (syenite vs. granite).

  3. Usage of cell nomenclature in biomedical literature

    KAUST Repository

    Kafkas, Senay; Sarntivijai, Sirarat; Hoehndorf, Robert

    2017-01-01

    large scale for understanding the level of uptake of cell nomenclature in literature by scientists. In this study, we analyse the usage of cell nomenclature, both in Vivo, and in Vitro in biomedical literature by using text mining methods and present our

  4. HEREDITARY CONNECTIVE TISSUE DISORDERS: NOMENCLATURE AND DIAGNOSTIC ALGORITHM

    Directory of Open Access Journals (Sweden)

    A. V. Klemenov

    2015-01-01

    Full Text Available Hereditary connective tissue disorders (HCTDs are a genetically and clinically diverse group of diseases, which encompasses common congenital disorders of fibrous connective tissue structures. Out of the whole variety of the clinical manifestations of NCTDs, only differentiated monogenic syndromes with the agreed guidelines for their diagnosis have been long the focus of the medical community’s attention. Many unclassified forms of the pathology (dysplasia phenotypes have been disregarded while assessing a person’s prognosis and defining treatment policy. With no clear definition of NCTDs or their approved diagnostic algorithm, it is difficult to study their real prevalence in the population, to compare literature data, and to constructively discuss various scientific and practical aspects of this disease. Efforts to systematize individual clinical types of NCTD and to formulate their diagnostic criteria are set forth in the All-Russian Research Society Expert Committee national guidelines approved in 2009 and revised in 2012. The paper gives current views on the nomenclature of NCTDs, considers diagnostic criteria for both classified monogenic syndromes (Marfan's syndrome, Ehlers–Danlos' syndrome, MASS phenotype, primary mitral valve prolapse, joint hypermobility syndrome and unclassified dysplasia phenotypes (MASS-like phenotype, marfanoid appearance, Ehlers–Danlos-like phenotype, benign joint hypermobility syndrome, unclassified phenotype. The above abnormalities are presented as a continuous list drawn up in the decreasing order of the degree of their clinical manifestations and prognostic value (the phenotypic continuum described by M.J. Glesby and R.E. Pyentz: from monogenic syndromes through dysplasia phenotypes to an unclassified phenotype. Emphasis is laid on the clinical NCTD identification difficulties associated with the lack of specificity of external and visceral markers of connective tissue asthenia and with the certain

  5. Genetic factors affecting statin concentrations and subsequent myopathy: a HuGENet systematic review

    Science.gov (United States)

    Canestaro, William J.; Austin, Melissa A.; Thummel, Kenneth E.

    2015-01-01

    Statins, 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitors, have proven efficacy in both lowering low-density-lipoprotein levels and preventing major coronary events, making them one of the most commonly prescribed drugs in the United States. Statins exhibit a class-wide side effect of muscle toxicity and weakness, which has led regulators to impose both dosage limitations and a recall. This review focuses on the best-characterized genetic factors associated with increased statin muscle concentrations, including the genes encoding cytochrome P450 enzymes (CYP2D6, CYP3A4, and CYP3A5), a mitochondrial enzyme (GATM), an influx transporter (SLCO1B1), and efflux transporters (ABCB1 and ABCG2). A systematic literature review was conducted to identify relevant research evaluating the significance of genetic variants predictive of altered statin concentrations and subsequent statin-related myopathy. Studies eligible for inclusion must have incorporated genotype information and must have associated it with some measure of myopathy, either creatine kinase levels or self-reported muscle aches and pains. After an initial review, focus was placed on seven genes that were adequately characterized to provide a substantive review: CYP2D6, CYP3A4, CYP3A5, GATM, SLCO1B1, ABCB1, and ABCG2. All statins were included in this review. Among the genetic factors evaluated, statin-related myopathy appears to be most strongly associated with variants in SLCO1B1. PMID:24810685

  6. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans.

    Science.gov (United States)

    Verloop, Herman; Dekkers, Olaf M; Peeters, Robin P; Schoones, Jan W; Smit, Johannes W A

    2014-09-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation. © 2014 European Society of Endocrinology.

  7. Spumaretroviruses: Updated taxonomy and nomenclature.

    Science.gov (United States)

    Khan, Arifa S; Bodem, Jochen; Buseyne, Florence; Gessain, Antoine; Johnson, Welkin; Kuhn, Jens H; Kuzmak, Jacek; Lindemann, Dirk; Linial, Maxine L; Löchelt, Martin; Materniak-Kornas, Magdalena; Soares, Marcelo A; Switzer, William M

    2018-03-01

    Spumaretroviruses, commonly referred to as foamy viruses, are complex retroviruses belonging to the subfamily Spumaretrovirinae, family Retroviridae, which naturally infect a variety of animals including nonhuman primates (NHPs). Additionally, cross-species transmissions of simian foamy viruses (SFVs) to humans have occurred following exposure to tissues of infected NHPs. Recent research has led to the identification of previously unknown exogenous foamy viruses, and to the discovery of endogenous spumaretrovirus sequences in a variety of host genomes. Here, we describe an updated spumaretrovirus taxonomy that has been recently accepted by the International Committee on Taxonomy of Viruses (ICTV) Executive Committee, and describe a virus nomenclature that is generally consistent with that used for other retroviruses, such as lentiviruses and deltaretroviruses. This taxonomy can be applied to distinguish different, but closely related, primate (e.g., human, ape, simian) foamy viruses as well as those from other hosts. This proposal accounts for host-virus co-speciation and cross-species transmission. Published by Elsevier Inc.

  8. Dental twinning anomalies: the nomenclature enigma.

    Science.gov (United States)

    Killian, C M; Croll, T P

    1990-07-01

    Dental twinning results from abnormal events in the embryologic development of teeth. This paper describes the impossibility of assigning precise diagnostic terms, such as germination, fusion, macrodontia, and concrescence, to dental twinning anomalies because the entire course of odontogenesis cannot be witnessed. Traditional nomenclature is reviewed and seven cases that exemplify the principle are presented. Modification of nomenclature to describe dental twinning defects is suggested.

  9. Public perceptions of agrifood applications of Genetic modification – A systematic review

    NARCIS (Netherlands)

    Frewer, L.J.; Lans, van der I.A.; Fischer, A.R.H.; Reinders, M.J.; Menozzi, D.; Zhang, X.Y.; Berg, van den I.; Zimmermann, K.L.

    2012-01-01

    An extensive literature relating to public perceptions of genetically modified foods applied to agri-food production has been identified through the process of systematic review. Application of systematic review criteria indicated that 335 papers were of appropriate quality or relevance to be

  10. Labor Dystocia: Uses of Related Nomenclature.

    Science.gov (United States)

    Neal, Jeremy L; Ryan, Sharon L; Lowe, Nancy K; Schorn, Mavis N; Buxton, Margaret; Holley, Sharon L; Wilson-Liverman, Angela M

    2015-01-01

    Labor dystocia (slow or difficult labor or birth) is the most commonly diagnosed aberration of labor and the most frequently documented indication for primary cesarean birth. Yet, dystocia remains a poorly specified diagnostic category, with determinations often varying widely among clinicians. The primary aims of this review are to 1) summarize definitions of active labor and dystocia, as put forth by leading professional obstetric and midwifery organizations in world regions wherein English is the majority language and 2) describe the use of dystocia and related terms in contemporary research studies. Major national midwifery and obstetric organizations from qualifying United Nations-member sovereign nations and international organizations were searched to identify guidelines providing definitions of active labor and dystocia or related terms. Research studies (2000-2013) were systematically identified via PubMed, MEDLINE, and CINAHL searches to describe the use of dystocia and related terms in contemporary scientific publications. Only 6 organizational guidelines defined dystocia or related terms. Few research teams (n = 25 publications) defined dystocia-related terms with nonambiguous clinical parameters that can be applied prospectively. There is heterogeneity in the nomenclature used to describe dystocia, and when a similar term is shared between guidelines or research publications, the underlying definition of that term is sometimes inconsistent between documents. Failure to define dystocia in evidence-based, well-described, clinically meaningful terms that are widely acceptable to and reproducible among clinicians and researchers is concerning at both national and global levels. This failure is particularly problematic in light of the major contribution of this diagnosis to primary cesarean birth rates. © 2015 by the American College of Nurse-Midwives.

  11. Ethnic Background and Genetic Variation in the Evaluation of Cancer Risk: A Systematic Review

    OpenAIRE

    Jing, Lijun; Su, Li; Ring, Brian Z.

    2014-01-01

    The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in ...

  12. Acute pancreatitis: international classification and nomenclature

    International Nuclear Information System (INIS)

    Bollen, T.L.

    2016-01-01

    The incidence of acute pancreatitis (AP) is increasing and it is associated with a major healthcare concern. New insights in the pathophysiology, better imaging techniques, and novel treatment options for complicated AP prompted the update of the 1992 Atlanta Classification. Updated nomenclature for pancreatic collections based on imaging criteria is proposed. Adoption of the newly Revised Classification of Acute Pancreatitis 2012 by radiologists should help standardise reports and facilitate accurate conveyance of relevant findings to referring physicians involved in the care of patients with AP. This review will clarify the nomenclature of pancreatic collections in the setting of AP.

  13. Proposal to consistently apply the International Code of Nomenclature of Prokaryotes (ICNP) to names of the oxygenic photosynthetic bacteria (cyanobacteria), including those validly published under the International Code of Botanical Nomenclature (ICBN)/International Code of Nomenclature for algae, fungi and plants (ICN), and proposal to change Principle 2 of the ICNP.

    Science.gov (United States)

    Pinevich, Alexander V

    2015-03-01

    This taxonomic note was motivated by the recent proposal [Oren & Garrity (2014) Int J Syst Evol Microbiol 64, 309-310] to exclude the oxygenic photosynthetic bacteria (cyanobacteria) from the wording of General Consideration 5 of the International Code of Nomenclature of Prokaryotes (ICNP), which entails unilateral coverage of these prokaryotes by the International Code of Nomenclature for algae, fungi, and plants (ICN; formerly the International Code of Botanical Nomenclature, ICBN). On the basis of key viewpoints, approaches and rules in the systematics, taxonomy and nomenclature of prokaryotes it is reciprocally proposed to apply the ICNP to names of cyanobacteria including those validly published under the ICBN/ICN. For this purpose, a change to Principle 2 of the ICNP is proposed to enable validation of cyanobacterial names published under the ICBN/ICN rules. © 2015 IUMS.

  14. The Amstersam declaration on fungal nomenclature

    DEFF Research Database (Denmark)

    Hawksworth, David L.; Crous, Pedro W.; Redhead, Scott A.

    2011-01-01

    The Amsterdam Declaration on Fungal Nomenclature was agreed at an international symposium convened in Amsterdam on 19–20 April 2011 under the auspices of the International Commission on the Taxonomy of Fungi (ICTF). The purpose of the symposium was to address the issue of whether or how the current...

  15. [Turner syndrome and genetic polymorphism: a systematic review].

    Science.gov (United States)

    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

    To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  16. NOMENCLATURAL CONFUSION OF SOME SPECIES OF ANDROGRAPHIS WALL

    OpenAIRE

    Balu, S.; Alagesaboopathi, C.

    1995-01-01

    Andrographis paniculata Nees, Andrographis alata Nees and Andrographis lineate Nees. (Acanthaceae) are important medicinal plants useful in the treatment of various human ailments. Nomenclatural confusion prevails with regards to these medicinal plants in India medical literature and vernacular nomenclature. This nomenclatural confusion has been clarified in the present paper.

  17. Systematic review on the conservation genetics of African savannah elephants.

    Science.gov (United States)

    Zacarias, Daniel; Bini, Luis Mauricio; Loyola, Rafael

    2016-01-01

    In this paper we review the conservation genetics of African savannah elephants, aiming to understand the spatio-temporal research trends and their underlying factors. As such, we explore three questions associated to the conservation genetics and molecular ecology of these elephants: (1) what are the research trends concerning the conservation genetics of Loxodonta africana ? (2) Do richer countries conduct more research on the genetics of African elephants? (3) Which attributes influence where scholars conduct their research? We examined available peer-reviewed publications from 1993 to 2014 in complementary online databases, including the ISI/Web of Science (WoS), Scopus and Google Scholar (GS), and searched for publications in scientific journals as well as in the reference section of these publications. We analyzed the annual trend of publications in this field of research, including the number of authors, levels of collaboration among authors, year of publication, publishing journal and the countries from where genetic samples were collected. Additionally, we identified main research clusters, authors, and institutional collaborations, based on co-citation and co-occurrence networks. We found that during the study period there was a positive trend in the number of publications and a reduction in the number of authors per paper. Twenty-five countries contributed, with the majority of publications authored by researchers in the USA, Kenya and South Africa. The majority of samples were collected in Kenya, Tanzania and South Africa. Research outputs are associated with the existence of long-term conservation/research projects and research potential as measured by the literacy rate and the number of higher education institutions in a country. Five research clusters were identified, focusing on the origin and evolution of the species, methodological issues and the relatedness among elephant species. Research in this field should be expanded to additional countries

  18. Systematic review on the conservation genetics of African savannah elephants

    Directory of Open Access Journals (Sweden)

    Daniel Zacarias

    2016-10-01

    Full Text Available Background In this paper we review the conservation genetics of African savannah elephants, aiming to understand the spatio-temporal research trends and their underlying factors. As such, we explore three questions associated to the conservation genetics and molecular ecology of these elephants: (1 what are the research trends concerning the conservation genetics of Loxodonta africana? (2 Do richer countries conduct more research on the genetics of African elephants? (3 Which attributes influence where scholars conduct their research? Materials and Methods We examined available peer-reviewed publications from 1993 to 2014 in complementary online databases, including the ISI/Web of Science (WoS, Scopus and Google Scholar (GS, and searched for publications in scientific journals as well as in the reference section of these publications. We analyzed the annual trend of publications in this field of research, including the number of authors, levels of collaboration among authors, year of publication, publishing journal and the countries from where genetic samples were collected. Additionally, we identified main research clusters, authors, and institutional collaborations, based on co-citation and co-occurrence networks. Results We found that during the study period there was a positive trend in the number of publications and a reduction in the number of authors per paper. Twenty-five countries contributed, with the majority of publications authored by researchers in the USA, Kenya and South Africa. The majority of samples were collected in Kenya, Tanzania and South Africa. Research outputs are associated with the existence of long-term conservation/research projects and research potential as measured by the literacy rate and the number of higher education institutions in a country. Five research clusters were identified, focusing on the origin and evolution of the species, methodological issues and the relatedness among elephant species. Conclusions

  19. Host genetics and outcome in meningococcal disease: a systematic review and meta-analysis

    NARCIS (Netherlands)

    Brouwer, Matthijs C.; Read, Robert C.; van de Beek, Diederik

    2010-01-01

    Various genes regulate the intensity of the inflammatory and coagulation response to infection and therefore might determine the severity and outcome of meningococcal disease. We systematically reviewed the published work for case control studies on the influence of host genetics on severity and

  20. 2. The Amsterdam Declaration on fungal nomenclature

    DEFF Research Database (Denmark)

    Hawksworth, David L.; Crous, Pedro W.; Redhead, Scott A.

    2011-01-01

    The Amsterdam Declaration on Fungal Nomenclature was agreed at an international symposium convened in Amsterdam on 19-20 April 2011 under the auspices of the International Commission on the Taxonomy of Fungi (ICTF). The purpose of the symposium was to address the issue of whether or how the current...... to advise on the problem. The Declaration recognizes the need for an orderly transition to a single-name nomenclatural system for all fungi, and to provide mechanisms to protect names that otherwise then become endangered. That is, meaning that priority should be given to the first described name, except...... where there is a younger name in general use when the first author to select a name of a pleomorphic monophyletic genus is to be followed, and suggests controversial cases are referred to a body, such as the ICTF, which will report to the Committee for Fungi. If appropriate, the ICTF could be mandated...

  1. Epidemiology and genetic diversity of Taenia asiatica: a systematic review.

    Science.gov (United States)

    Ale, Anita; Victor, Bjorn; Praet, Nicolas; Gabriël, Sarah; Speybroeck, Niko; Dorny, Pierre; Devleesschauwer, Brecht

    2014-01-22

    Taenia asiatica has made a remarkable journey through the scientific literature of the past 50 years, starting with the paradoxical observation of high prevalences of T. saginata-like tapeworms in non-beef consuming populations, to the full description of its mitochondrial genome. Experimental studies conducted in the 1980s and 1990s have made it clear that the life cycle of T. asiatica is comparable to that of T. saginata, except for pigs being the preferential intermediate host and liver the preferential location of the cysts. Whether or not T. asiatica can cause human cysticercosis, as is the case for Taenia solium, remains unclear. Given the specific conditions needed to complete its life cycle, in particular the consumption of raw or poorly cooked pig liver, the transmission of T. asiatica shows an important ethno-geographical association. So far, T. asiatica has been identified in Taiwan, South Korea, Indonesia, the Philippines, Thailand, south-central China, Vietnam, Japan and Nepal. Especially this last observation indicates that its distribution is not restricted to South-East-Asia, as was thought so far. Indeed, the molecular tools developed over the last 20 years have made it increasingly possible to differentiate T. asiatica from other taeniids. Such tools also indicated that T. asiatica is related more closely to T. saginata than to T. solium, feeding the debate on its taxonomic status as a separate species versus a subspecies of T. saginata. Furthermore, the genetic diversity within T. asiatica appears to be very minimal, indicating that this parasite may be on the verge of extinction. However, recent studies have identified potential hybrids between T. asiatica and T. saginata, reopening the debate on the genetic diversity of T. asiatica and its status as a separate species.

  2. Epidemiology and genetic diversity of Taenia asiatica: a systematic review

    Science.gov (United States)

    2014-01-01

    Taenia asiatica has made a remarkable journey through the scientific literature of the past 50 years, starting with the paradoxical observation of high prevalences of T. saginata-like tapeworms in non-beef consuming populations, to the full description of its mitochondrial genome. Experimental studies conducted in the 1980s and 1990s have made it clear that the life cycle of T. asiatica is comparable to that of T. saginata, except for pigs being the preferential intermediate host and liver the preferential location of the cysts. Whether or not T. asiatica can cause human cysticercosis, as is the case for Taenia solium, remains unclear. Given the specific conditions needed to complete its life cycle, in particular the consumption of raw or poorly cooked pig liver, the transmission of T. asiatica shows an important ethno-geographical association. So far, T. asiatica has been identified in Taiwan, South Korea, Indonesia, the Philippines, Thailand, south-central China, Vietnam, Japan and Nepal. Especially this last observation indicates that its distribution is not restricted to South-East-Asia, as was thought so far. Indeed, the molecular tools developed over the last 20 years have made it increasingly possible to differentiate T. asiatica from other taeniids. Such tools also indicated that T. asiatica is related more closely to T. saginata than to T. solium, feeding the debate on its taxonomic status as a separate species versus a subspecies of T. saginata. Furthermore, the genetic diversity within T. asiatica appears to be very minimal, indicating that this parasite may be on the verge of extinction. However, recent studies have identified potential hybrids between T. asiatica and T. saginata, reopening the debate on the genetic diversity of T. asiatica and its status as a separate species. PMID:24450957

  3. Typology and nomenclature proposal for technological soil

    International Nuclear Information System (INIS)

    Mezzano, A.; Huelmo, S.

    2012-01-01

    This paper presents a nomenclature and photographs proposal to be used in the technological soil profile description with the purpose of differentiate them from the natural soil profile. Each technological profile description identifies the power and constitutive elements. In two locations of Montevideo city is possible to see the soil contact with the geological unit where it has developed. Geomorpholocally it corresponds to the flood plains of streams and creeks

  4. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans

    NARCIS (Netherlands)

    Verloop, H.; Dekkers, O.M.; Peeters, R.P.; Schoones, J.W.; Smit, J.W.

    2014-01-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple

  5. Genetics/genomics education for nongenetic health professionals: a systematic literature review.

    Science.gov (United States)

    Talwar, Divya; Tseng, Tung-Sung; Foster, Margaret; Xu, Lei; Chen, Lei-Shih

    2017-07-01

    The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. Five electronic databases were searched from January 1990 to June 2016. Forty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants' improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants' age, ethnicity, years of clinical practice, data validity, and data reliability. Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016.

  6. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

    Science.gov (United States)

    Van Dijk, F S; Sillence, D O

    2014-06-01

    Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  7. Global trends on fears and concerns of genetic discrimination: a systematic literature review.

    Science.gov (United States)

    Wauters, Annet; Van Hoyweghen, Ine

    2016-04-01

    Since the 1990s, developments in the field of genetics have led to many questions on the use and possible misuse of genetic information. 'Genetic discrimination' has been defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. Despite the public policy attention around genetic discrimination, there is currently still much confusion surrounding this phenomenon. On the one hand, there is little evidence of the occurrence of genetic discrimination. On the other hand, it appears that people remain concerned about this theme, and this fear influences their health and life choices. This article makes use of a systematic literature review to investigate what is already known about the nature, extent and background of these fears and concerns. The 42 included studies have found considerable levels of concerns about genetic discrimination. Concerns dominate in insurance contexts and within personal interactions. The extent of concerns appears to vary depending on the type of genetic illness. Furthermore, installed laws prohibiting genetic discrimination do not seem to alleviate existing fears. This raises important questions as to the origins of these fears. Based on the findings, recommendations for future research are made. First, research on the background of fears is needed. Second, future research needs to assess more fully all different forms (for example, direct and indirect) of genetic discrimination. Thirdly, it has to be studied whether genetic discrimination is a form of discrimination that is distinguishable from discrimination based on an illness or disability. Finally, a last element that should be addressed in future research is the most recent developments in research on genomics, such as next-generation sequencing or genome-wide association studies.

  8. The Impact of Genetic and Non-Genetic Factors on Warfarin Dose Prediction in MENA Region: A Systematic Review.

    Science.gov (United States)

    Bader, Loulia Akram; Elewa, Hazem

    2016-01-01

    Warfarin is the most commonly used oral anticoagulant for the treatment and prevention of thromboembolic disorders. Pharmacogenomics studies have shown that variants in CYP2C9 and VKORC1 genes are strongly and consistently associated with warfarin dose variability. Although different populations from the Middle East and North Africa (MENA) region may share the same ancestry, it is still unclear how they compare in the genetic and non-genetic factors affecting their warfarin dosing. To explore the prevalence of CYP2C9 and VKORC1 variants in MENA, and the effect of these variants along with other non-genetic factors in predicting warfarin dose. In this systematic review, we included observational cross sectional and cohort studies that enrolled patients on stable warfarin dose and had the genetics and non-genetics factors associated with mean warfarin dose as the primary outcome. We searched PubMed, Medline, Scopus, PharmGKB, PHGKB, Google scholar and reference lists of relevant reviews. We identified 17 studies in eight different populations: Iranian, Israeli, Egyptian, Lebanese, Omani, Kuwaiti, Sudanese and Turkish. Most common genetic variant in all populations was the VKORC1 (-1639G>A), with a minor allele frequency ranging from 30% in Egyptians and up to 52% and 56% in Lebanese and Iranian, respectively. Variants in the CYP2C9 were less common, with the highest MAF for CYP2C9*2 among Iranians (27%). Variants in the VKORC1 and CYP2C9 were the most significant predictors of warfarin dose in all populations. Along with other genetic and non-genetic factors, they explained up to 63% of the dose variability in Omani and Israeli patients. Variants of VKORC1 and CYP2C9 are the strongest predictors of warfarin dose variability among the different populations from MENA. Although many of those populations share the same ancestry and are similar in their warfarin dose predictors, a population specific dosing algorithm is needed for the prospective estimation of warfarin

  9. Quirks of dye nomenclature. 5. Rhodamines.

    Science.gov (United States)

    Cooksey, C J

    2016-01-01

    Rhodamines were first produced in the late 19(th) century, when they constituted a new class of synthetic dyes. These compounds since have been used to color many things including cosmetics, inks, textiles, and in some countries, food products. Certain rhodamine dyes also have been used to stain biological specimens and currently are widely used as fluorescent probes for mitochondria in living cells. The early history and current biological applications are sketched briefly and an account of the ambiguities, complications and confusions concerning dye identification and nomenclature are discussed.

  10. Structural Phase Transition Nomenclature, Report of an IUCr Working Group on Phase Transition Nomenclature

    NARCIS (Netherlands)

    Toleddano, J.C.; Glazer, A.M.; Hahn, Th.; Parthe, E.; Roth, R.S.; Berry, R.S.; Metselaar, R.; Abrahams, S.C.

    1998-01-01

    A compact and intuitive nomenclature is recommended for naming each phase formed by a given material in a sequence of phase transitions as a function of temperature and/or pressure. The most commonly used label for each phase in a sequence, such as [alpha], [beta], ..., I, II, ... etc., is included

  11. Molecular genetic gene-environment studies using candidate genes in schizophrenia: a systematic review.

    Science.gov (United States)

    Modinos, Gemma; Iyegbe, Conrad; Prata, Diana; Rivera, Margarita; Kempton, Matthew J; Valmaggia, Lucia R; Sham, Pak C; van Os, Jim; McGuire, Philip

    2013-11-01

    The relatively high heritability of schizophrenia suggests that genetic factors play an important role in the etiology of the disorder. On the other hand, a number of environmental factors significantly influence its incidence. As few direct genetic effects have been demonstrated, and there is considerable inter-individual heterogeneity in the response to the known environmental factors, interactions between genetic and environmental factors may be important in determining whether an individual develops the disorder. To date, a considerable number of studies of gene-environment interactions (G×E) in schizophrenia have employed a hypothesis-based molecular genetic approach using candidate genes, which have led to a range of different findings. This systematic review aims to summarize the results from molecular genetic candidate studies and to review challenges and opportunities of this approach in psychosis research. Finally, we discuss the potential of future prospects, such as new studies that combine hypothesis-based molecular genetic candidate approaches with agnostic genome-wide association studies in determining schizophrenia risk. © 2013 Elsevier B.V. All rights reserved.

  12. Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses.

    Science.gov (United States)

    Bertram, Lars; Tanzi, Rudolph E

    2008-10-01

    The genetic underpinnings of Alzheimer's disease (AD) remain largely elusive despite early successes in identifying three genes that cause early-onset familial AD (those that encode amyloid precursor protein (APP) and the presenilins (PSEN1 and PSEN2)), and one genetic risk factor for late-onset AD (the gene that encodes apolipoprotein E (APOE)). A large number of studies that aimed to help uncover the remaining disease-related loci have been published in recent decades, collectively proposing or refuting the involvement of over 500 different gene candidates. Systematic meta-analyses of these studies currently highlight more than 20 loci that have modest but significant effects on AD risk. This Review discusses the putative pathogenetic roles and common biochemical pathways of some of the most genetically and biologically compelling of these potential AD risk factors.

  13. A nomenclature paradigm for benign midmembranous vocal fold lesions.

    Science.gov (United States)

    Rosen, Clark A; Gartner-Schmidt, Jackie; Hathaway, Bridget; Simpson, C Blake; Postma, Gregory N; Courey, Mark; Sataloff, Robert T

    2012-06-01

    There is a significant lack of uniform agreement regarding nomenclature for benign vocal fold lesions (BVFLs). This confusion results in difficulty for clinicians communicating with their patients and with each other. In addition, BVFL research and comparison of treatment methods are hampered by the lack of a detailed and uniform BVFL nomenclature. Clinical consensus conferences were held to develop an initial BVFL nomenclature paradigm. Perceptual video analysis was performed to validate the stroboscopy component of the paradigm. The culmination of the consensus conferences and the video-perceptual analysis was used to evaluate the BVFL nomenclature paradigm using a retrospective review of patients with BVFL. An initial BVFL nomenclature paradigm was proposed utilizing detailed definitions relating to vocal fold lesion morphology, stroboscopy, response to voice therapy and intraoperative findings. Video-perceptual analysis of stroboscopy demonstrated that the proposed binary stroboscopy system used in the BVFL nomenclature paradigm was valid and widely applicable. Retrospective review of 45 patients with BVFL followed to the conclusion of treatment demonstrated that slight modifications of the initial BVFL nomenclature paradigm were required. With the modified BVFL nomenclature paradigm, 96% of the patients fit into the predicted pattern and definitions of the BVFL nomenclature system. This study has validated a multidimensional BVFL nomenclature paradigm. This vocal fold nomenclature paradigm includes nine distinct vocal fold lesions: vocal fold nodules, vocal fold polyp, pseudocyst, vocal fold cyst (subepithelial or ligament), nonspecific vocal fold lesion, vocal fold fibrous mass (subepithelial or ligament), and reactive lesion. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

  14. Identification and nomenclature of the genus Penicillium.

    Science.gov (United States)

    Visagie, C M; Houbraken, J; Frisvad, J C; Hong, S-B; Klaassen, C H W; Perrone, G; Seifert, K A; Varga, J; Yaguchi, T; Samson, R A

    2014-06-01

    Penicillium is a diverse genus occurring worldwide and its species play important roles as decomposers of organic materials and cause destructive rots in the food industry where they produce a wide range of mycotoxins. Other species are considered enzyme factories or are common indoor air allergens. Although DNA sequences are essential for robust identification of Penicillium species, there is currently no comprehensive, verified reference database for the genus. To coincide with the move to one fungus one name in the International Code of Nomenclature for algae, fungi and plants, the generic concept of Penicillium was re-defined to accommodate species from other genera, such as Chromocleista, Eladia, Eupenicillium, Torulomyces and Thysanophora, which together comprise a large monophyletic clade. As a result of this, and the many new species described in recent years, it was necessary to update the list of accepted species in Penicillium. The genus currently contains 354 accepted species, including new combinations for Aspergillus crystallinus, A. malodoratus and A. paradoxus, which belong to Penicillium section Paradoxa. To add to the taxonomic value of the list, we also provide information on each accepted species MycoBank number, living ex-type strains and provide GenBank accession numbers to ITS, β-tubulin, calmodulin and RPB2 sequences, thereby supplying a verified set of sequences for each species of the genus. In addition to the nomenclatural list, we recommend a standard working method for species descriptions and identifications to be adopted by laboratories working on this genus.

  15. Guidelines to classification and nomenclature of Arabian felsic plutonic rocks

    Science.gov (United States)

    Ramsay, C.R.; Stoeser, D.B.; Drysdall, A.R.

    1986-01-01

    Well-defined procedures for classifying the felsic plutonic rocks of the Arabian Shield on the basis of petrographic, chemical and lithostratigraphic criteria and mineral-resource potential have been adopted and developed in the Saudi Arabian Deputy Ministry for Mineral Resources over the past decade. A number of problems with conventional classification schemes have been identified and resolved; others, notably those arising from difficulties in identifying precise mineral compositions, continue to present difficulties. The petrographic nomenclature used is essentially that recommended by the International Union of Geological Sciences. Problems that have arisen include the definition of: (1) rocks with sodic, zoned or perthitic feldspar, (2) trondhjemites, and (3) alkali granites. Chemical classification has been largely based on relative molar amounts of alumina, lime and alkalis, and the use of conventional variation diagrams, but pilot studies utilizing univariate and multivariate statistical techniques have been made. The classification used in Saudi Arabia for stratigraphic purposes is a hierarchy of formation-rank units, suites and super-suites as defined in the Saudi Arabian stratigraphic code. For genetic and petrological studies, a grouping as 'associations' of similar and genetically related lithologies is commonly used. In order to indicate mineral-resource potential, the felsic plutons are classed as common, precursor, specialized or mineralized, in order of increasing exploration significance. ?? 1986.

  16. Nomenclatural Benchmarking: The roles of digital typification and telemicroscopy

    Science.gov (United States)

    The process of nomenclatural benchmarking is the examination of type specimens of all available names to ascertain which currently accepted species the specimen bearing the name falls within. We propose a strategy for addressing four challenges for nomenclatural benchmarking. First, there is the mat...

  17. Nomenclature and databases - The past, the present, and the future

    NARCIS (Netherlands)

    Jacobs, Jeffrey Phillip; Mavroudis, Constantine; Jacobs, Marshall Lewis; Maruszewski, Bohdan; Tchervenkov, Christo I.; Lacour-Gayet, Francois G.; Clarke, David Robinson; Gaynor, J. William; Spray, Thomas L.; Kurosawa, Hiromi; Stellin, Giovanni; Ebels, Tjark; Bacha, Emile A.; Walters, Henry L.; Elliott, Martin J.

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for congenital heart disease. Five areas will be reviewed: (1) common language = nomenclature, (2) mechanism of data collection (database or registry) with

  18. Chemical Alias: An Engaging Way to Examine Nomenclature

    Science.gov (United States)

    Kurushkin, Mikhail; Mikhaylenko, Maria

    2015-01-01

    An educational card game, "Chemical Alias," has been developed as an alternative method of reviewing students' knowledge of nomenclature. In contrast to conventional tests, this highly competitive activity is a fun and effective way to examine and reinforce nomenclature. The students play in pairs, using Clark's famous spiral arrangement…

  19. Guidelines for the nomenclature of the human heat shock proteins

    NARCIS (Netherlands)

    Kampinga, Harm H.; Hageman, Jurre; Vos, Michel J.; Kubota, Hiroshi; Tanguay, Robert M.; Bruford, Elspeth A.; Cheetham, Michael E.; Chen, B.; Hightower, Lawrence E.

    The expanding number of members in the various human heat shock protein (HSP) families and the inconsistencies in their nomenclature have often led to confusion. Here, we propose new guidelines for the nomenclature of the human HSP families, HSPH (HSP110), HSPC (HSP90), HSPA (HSP70), DNAJ (HSP40),

  20. Systematic documentation and analysis of human genetic variation using the microattribution approach

    Science.gov (United States)

    Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Maglott, Donna; Basak, A. Nazli; Clark, Barnaby; Faustino, Paula; Felice, Alex E.; Francina, Alain; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Philipsen, Sjaak; Radmilovic, Milena; Riemer, Cathy; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P.

    2013-01-01

    We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to these disorders, and then implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories 1. A total of 1,941 unique genetic variants in 37 genes, encoding globins (HBA2, HBA1, HBG2, HBG1, HBD, HBB) and other erythroid proteins (ALOX5AP, AQP9, ARG2, ASS1, ATRX, BCL11A, CNTNAP2, CSNK2A1, EPAS1, ERCC2, FLT1, GATA1, GPM6B, HAO2, HBS1L, KDR, KL, KLF1, MAP2K1, MAP3K5, MAP3K7, MYB, NOS1, NOS2, NOS3, NOX3, NUP133, PDE7B, SMAD3, SMAD6, and TOX) are currently documented in these databases with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants and now provides a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The large repository of previously reported data, together with more recent data, acquired by microattribution, demonstrates how the comprehensive documentation of human variation will provide key insights into normal biological processes and how these are perturbed in human genetic disease. Using the microattribution process set out here, datasets which took decades to accumulate for the globin genes could be assembled rapidly for other genes and disease systems. The principles established here for the globin gene system will serve as a model for other systems and the analysis of other common and/or complex human genetic diseases. PMID:21423179

  1. Identification and nomenclature of the genus Penicillium

    DEFF Research Database (Denmark)

    Visagie, C.M.; Houbraken, J.; Frisvad, Jens Christian

    2014-01-01

    Penicillium is a diverse genus occurring worldwide and its species play important roles as decomposers of organic materials and cause destructive rots in the food industry where they produce a wide range of mycotoxins. Other species are considered enzyme factories or are common indoor air allergens....... Although DNA sequences are essential for robust identification of Penicillium species, there is currently no comprehensive, verified reference database for the genus. To coincide with the move to one fungus one name in the International Code of Nomenclature for algae, fungi and plants, the generic concept...... of accepted species in Penicillium. The genus currently contains 354 accepted species, including new combinations for Aspergillus crystallinus, A. malodoratus and A. paradoxus, which belong to Penicillium section Paradoxa. To add to the taxonomic value of the list, we also provide information on each accepted...

  2. Nomenclature and spelling rules of chemistry in Hungary Pt. 1 Nomenclature of elements and inorganic compounds

    International Nuclear Information System (INIS)

    Fodorne Csanyi, P.

    1982-01-01

    The part of the updated edition of 'Nomenclature and spelling rules of chemistry in Hungary' (Budapest, 1972), referring to the isotopically modified inorganic compounds is presented. The rules are based on the proposals of IUPAC (1981). Spelling rules concerning the isotopically substituted, isotopically labelled, specifically labelled, selectively and non-selectively labelled compounds, and the positional and numbering rules of nuclides are treated. (Sz.J.)

  3. Systematic characterization of Bacillus Genetic Stock Center Bacillus thuringiensis strains using Multi-Locus Sequence Typing.

    Science.gov (United States)

    Wang, Kui; Shu, Changlong; Soberón, Mario; Bravo, Alejandra; Zhang, Jie

    2018-04-30

    The goal of this work was to perform a systematic characterization of Bacillus thuringiensis (Bt) strains from the Bacillus Genetic Stock Center (BGSC) collection using Multi-Locus Sequence Typing (MLST). Different genetic markers of 158 Bacillus thuringiensis (Bt) strains from 73 different serovars stored in the BGSC, that represented 92% of the different Bt serovars of the BGSC were analyzed, the 8% that were not analyzed were not available. In addition, we analyzed 72 Bt strains from 18 serovars available at the pubMLST bcereus database, and Bt strains G03, HBF18 and Bt185, with no H serovars provided by our laboratory. We performed a systematic MLST analysis using seven housekeeping genes (glpF, gmK, ilvD, pta, pur, pycA and tpi) and analyzed correlation of the results of this analysis with strain serovars. The 233 Bt strains analyzed were assigned to 119 STs from which 19 STs were new. Genetic relationships were established by phylogenetic analysis and showed that STs could be grouped in two major Clusters containing 21 sub-groups. We found that a significant number of STs (101 in total) correlated with specific serovars, such as ST13 that corresponded to nine Bt isolates from B. thuringiensis serovar kenyae. However, other serovars showed high genetic variability and correlated with multiple STs; for example, B. thuringiensis serovar morrisoni correlated with 11 different STs. In addition, we found that 16 different STs correlated with multiple serovars (2-4 different serovars); for example, ST12 correlated with B. thuringiensis serovar alesti, dakota, palmanyolensis and sotto/dendrolimus. These data indicated that only partial correspondence between MLST and serotyping can be established. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.

    Science.gov (United States)

    Benusiglio, Patrick R; Di Maria, Marina; Dorling, Leila; Jouinot, Anne; Poli, Antoine; Villebasse, Sophie; Le Mentec, Marine; Claret, Béatrice; Boinon, Diane; Caron, Olivier

    2017-01-01

    The increase in referrals to cancer genetics clinics, partially associated with the "Angelina Jolie effect", presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist. A short individual consultation ensues, where personal and family issues are addressed and consent obtained. Blood is drawn afterwards. Satisfaction and knowledge are evaluated. We report data for the Oct-2014-Aug-2015 period. 210 patients attended group counselling, up to eight simultaneously. We always fitted them within a 4-h time frame. Mean satisfaction score was 41/43. Knowledge scores increased from 3.1/6 to 4.9/6 post-counselling (p value group counselling, we have withstood increases in referrals without compromising care. The "Angelina Jolie effect" and rapid developments in personalized medicine threaten to overwhelm cancer genetics clinics. In this context, our innovative approach should ensure that all patients have access to approved services.

  5. Genetic studies of type 2 diabetes in South Asians: a systematic overview.

    Science.gov (United States)

    Chowdhury, Ritam; Narayan, Kabayam M Venkat; Zabetian, Azadeh; Raj, Suraja; Tabassum, Rubina

    2014-01-01

    Diabetes Mellitus, which affects 366 million people worldwide, is a leading cause of mortality, morbidity, and loss of quality of life. South Asians, comprising 24% of the world's population, suffer a large burden of type 2 diabetes. With intriguing risk phenotypes, unique environmental triggers, and potential genetic predisposition, South Asians offer a valuable resource for investigating the pathophysiology of type 2 diabetes. Genomics has proven its potential to underpin some of the etiology of type 2 diabetes by identifying a number of susceptibility genes, but such data are scarce and unclear in South Asians. We present a systematic review of studies on the genetic basis of type 2 diabetes or its complications in South Asians published between 1987-2012, and discuss the findings and limitations of the available data. Of the 91 eligible studies meeting our inclusion criteria, a vast majority included Indian populations, followed by a few in those of Pakistani origin, while other South Asian countries were generally under-represented. Though a large number of studies focused on the replication of findings from genome-wide association studies (GWAS) in European populations, a few studies explored new genes and pathways along with GWAS in South Asians and suggested the potential to unravel population- specific susceptibility genes in this population. We find encouraging improvements in study designs, sample sizes and the numbers of genetic variants investigated over the last five years, which reflect the existing capacity and scope for large-scale genetic studies in South Asians.

  6. Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.

    Science.gov (United States)

    Covolo, Loredana; Rubinelli, Sara; Ceretti, Elisabetta; Gelatti, Umberto

    2015-12-14

    Direct-to-consumer genetic tests (DTC-GT) are easily purchased through the Internet, independent of a physician referral or approval for testing, allowing the retrieval of genetic information outside the clinical context. There is a broad debate about the testing validity, their impact on individuals, and what people know and perceive about them. The aim of this review was to collect evidence on DTC-GT from a comprehensive perspective that unravels the complexity of the phenomenon. A systematic search was carried out through PubMed, Web of Knowledge, and Embase, in addition to Google Scholar according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist with the key term "Direct-to-consumer genetic test." In the final sample, 118 articles were identified. Articles were summarized in five categories according to their focus on (1) knowledge of, attitude toward use of, and perception of DTC-GT (n=37), (2) the impact of genetic risk information on users (n=37), (3) the opinion of health professionals (n=20), (4) the content of websites selling DTC-GT (n=16), and (5) the scientific evidence and clinical utility of the tests (n=14). Most of the articles analyzed the attitude, knowledge, and perception of DTC-GT, highlighting an interest in using DTC-GT, along with the need for a health care professional to help interpret the results. The articles investigating the content analysis of the websites selling these tests are in agreement that the information provided by the companies about genetic testing is not completely comprehensive for the consumer. Given that risk information can modify consumers' health behavior, there are surprisingly few studies carried out on actual consumers and they do not confirm the overall concerns on the possible impact of DTC-GT. Data from studies that investigate the quality of the tests offered confirm that they are not informative, have little predictive power, and do not measure genetic risk

  7. Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review

    Science.gov (United States)

    Rubinelli, Sara; Ceretti, Elisabetta; Gelatti, Umberto

    2015-01-01

    Background Direct-to-consumer genetic tests (DTC-GT) are easily purchased through the Internet, independent of a physician referral or approval for testing, allowing the retrieval of genetic information outside the clinical context. There is a broad debate about the testing validity, their impact on individuals, and what people know and perceive about them. Objective The aim of this review was to collect evidence on DTC-GT from a comprehensive perspective that unravels the complexity of the phenomenon. Methods A systematic search was carried out through PubMed, Web of Knowledge, and Embase, in addition to Google Scholar according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist with the key term “Direct-to-consumer genetic test.” Results In the final sample, 118 articles were identified. Articles were summarized in five categories according to their focus on (1) knowledge of, attitude toward use of, and perception of DTC-GT (n=37), (2) the impact of genetic risk information on users (n=37), (3) the opinion of health professionals (n=20), (4) the content of websites selling DTC-GT (n=16), and (5) the scientific evidence and clinical utility of the tests (n=14). Most of the articles analyzed the attitude, knowledge, and perception of DTC-GT, highlighting an interest in using DTC-GT, along with the need for a health care professional to help interpret the results. The articles investigating the content analysis of the websites selling these tests are in agreement that the information provided by the companies about genetic testing is not completely comprehensive for the consumer. Given that risk information can modify consumers’ health behavior, there are surprisingly few studies carried out on actual consumers and they do not confirm the overall concerns on the possible impact of DTC-GT. Data from studies that investigate the quality of the tests offered confirm that they are not informative, have little predictive

  8. The role of host genetics in susceptibility to influenza: a systematic review.

    Directory of Open Access Journals (Sweden)

    Peter Horby

    Full Text Available The World Health Organization has identified studies of the role of host genetics on susceptibility to severe influenza as a priority. A systematic review was conducted to summarize the current state of evidence on the role of host genetics in susceptibility to influenza (PROSPERO registration number: CRD42011001380.PubMed, Web of Science, the Cochrane Library, and OpenSIGLE were searched using a pre-defined strategy for all entries up to the date of the search. Two reviewers independently screened the title and abstract of 1,371 unique articles, and 72 full text publications were selected for inclusion. Mouse models clearly demonstrate that host genetics plays a critical role in susceptibility to a range of human and avian influenza viruses. The Mx genes encoding interferon inducible proteins are the best studied but their relevance to susceptibility in humans is unknown. Although the MxA gene should be considered a candidate gene for further study in humans, over 100 other candidate genes have been proposed. There are however no data associating any of these candidate genes to susceptibility in humans, with the only published study in humans being under-powered. One genealogy study presents moderate evidence of a heritable component to the risk of influenza-associated death, and while the marked familial aggregation of H5N1 cases is suggestive of host genetic factors, this remains unproven.The fundamental question "Is susceptibility to severe influenza in humans heritable?" remains unanswered. Not because of a lack of genotyping or analytic tools, nor because of insufficient severe influenza cases, but because of the absence of a coordinated effort to define and assemble cohorts of cases. The recent pandemic and the ongoing epizootic of H5N1 both represent rapidly closing windows of opportunity to increase understanding of the pathogenesis of severe influenza through multi-national host genetic studies.

  9. Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies

    Directory of Open Access Journals (Sweden)

    Mehrnoosh Khodaeian

    2015-01-01

    Full Text Available Introduction. Diabetes mellitus as the most prevalent metabolic disease is a multifactorial disease which is influenced by environmental and genetic factors. In this systematic review, we assessed the association between genetic variants and diabetes/its complications in studies with Iranian populations. Methods. Google Scholar, PubMed, Scopus, and Persian web databases were systematically searched up to January 2014. The search terms were “gene,” “polymorphism,” “diabetes,” and “diabetic complications”; nephropathy, retinopathy, neuropathy, foot ulcer, and CAD (coronary artery diseases; and Persian equivalents. Animal studies, letters to editor, and in vitro studies were excluded. Results. Out of overall 3029 eligible articles, 88 articles were included. We found significant association between CTLA-4, IL-18, VDR, TAP2, IL-12, and CD4 genes and T1DM, HNFα and MODY, haptoglobin, paraoxonase, leptin, TCF7L2, calreticulin, ERα, PPAR-γ2, CXCL5, calpain-10, IRS-1 and 2, GSTM1, KCNJ11, eNOS, VDR, INSR, ACE, apoA-I, apo E, adiponectin, PTPN1, CETP, AT1R, resistin, MMP-3, BChE K, AT2R, SUMO4, IL-10, VEGF, MTHFR, and GSTM1 with T2DM or its complications. Discussion. We found some controversial results due to heterogeneity in ethnicity and genetic background. We thought genome wide association studies on large number of samples will be helpful in identifying diabetes susceptible genes as an alternative to studying individual candidate genes in Iranian populations.

  10. Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies

    Science.gov (United States)

    Khodaeian, Mehrnoosh; Enayati, Samaneh; Tabatabaei-Malazy, Ozra; Amoli, Mahsa M.

    2015-01-01

    Introduction. Diabetes mellitus as the most prevalent metabolic disease is a multifactorial disease which is influenced by environmental and genetic factors. In this systematic review, we assessed the association between genetic variants and diabetes/its complications in studies with Iranian populations. Methods. Google Scholar, PubMed, Scopus, and Persian web databases were systematically searched up to January 2014. The search terms were “gene,” “polymorphism,” “diabetes,” and “diabetic complications”; nephropathy, retinopathy, neuropathy, foot ulcer, and CAD (coronary artery diseases); and Persian equivalents. Animal studies, letters to editor, and in vitro studies were excluded. Results. Out of overall 3029 eligible articles, 88 articles were included. We found significant association between CTLA-4, IL-18, VDR, TAP2, IL-12, and CD4 genes and T1DM, HNFα and MODY, haptoglobin, paraoxonase, leptin, TCF7L2, calreticulin, ERα, PPAR-γ2, CXCL5, calpain-10, IRS-1 and 2, GSTM1, KCNJ11, eNOS, VDR, INSR, ACE, apoA-I, apo E, adiponectin, PTPN1, CETP, AT1R, resistin, MMP-3, BChE K, AT2R, SUMO4, IL-10, VEGF, MTHFR, and GSTM1 with T2DM or its complications. Discussion. We found some controversial results due to heterogeneity in ethnicity and genetic background. We thought genome wide association studies on large number of samples will be helpful in identifying diabetes susceptible genes as an alternative to studying individual candidate genes in Iranian populations. PMID:26587547

  11. Multi-objective optimization in systematic conservation planning and the representation of genetic variability among populations.

    Science.gov (United States)

    Schlottfeldt, S; Walter, M E M T; Carvalho, A C P L F; Soares, T N; Telles, M P C; Loyola, R D; Diniz-Filho, J A F

    2015-06-18

    Biodiversity crises have led scientists to develop strategies for achieving conservation goals. The underlying principle of these strategies lies in systematic conservation planning (SCP), in which there are at least 2 conflicting objectives, making it a good candidate for multi-objective optimization. Although SCP is typically applied at the species level (or hierarchically higher), it can be used at lower hierarchical levels, such as using alleles as basic units for analysis, for conservation genetics. Here, we propose a method of SCP using a multi-objective approach. We used non-dominated sorting genetic algorithm II in order to identify the smallest set of local populations of Dipteryx alata (baru) (a Brazilian Cerrado species) for conservation, representing the known genetic diversity and using allele frequency information associated with heterozygosity and Hardy-Weinberg equilibrium. We worked in 3 variations for the problem. First, we reproduced a previous experiment, but using a multi-objective approach. We found that the smallest set of populations needed to represent all alleles under study was 7, corroborating the results of the previous study, but with more distinct solutions. In the 2nd and 3rd variations, we performed simultaneous optimization of 4 and 5 objectives, respectively. We found similar but refined results for 7 populations, and a larger portfolio considering intra-specific diversity and persistence with populations ranging from 8-22. This is the first study to apply multi-objective algorithms to an SCP problem using alleles at the population level as basic units for analysis.

  12. A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

    Directory of Open Access Journals (Sweden)

    Cui Yazhou

    2012-08-01

    Full Text Available Abstract Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs in China. This study systematically reviewed GSDs as defined in “Nosology and Classification of genetic skeletal disorders (2010 version” using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1, osteopetrosis, achondroplasia, enchondromatosis (Ollier, and osteopoikilosis, accounting for 76.5% (12,312 cases of the total cases. Five groups (group 8, 12, 14, 18, 21 defined by “Nosology and Classification of genetic skeletal disorders” have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%. In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.

  13. STOPGAP: a database for systematic target opportunity assessment by genetic association predictions.

    Science.gov (United States)

    Shen, Judong; Song, Kijoung; Slater, Andrew J; Ferrero, Enrico; Nelson, Matthew R

    2017-09-01

    We developed the STOPGAP (Systematic Target OPportunity assessment by Genetic Association Predictions) database, an extensive catalog of human genetic associations mapped to effector gene candidates. STOPGAP draws on a variety of publicly available GWAS associations, linkage disequilibrium (LD) measures, functional genomic and variant annotation sources. Algorithms were developed to merge the association data, partition associations into non-overlapping LD clusters, map variants to genes and produce a variant-to-gene score used to rank the relative confidence among potential effector genes. This database can be used for a multitude of investigations into the genes and genetic mechanisms underlying inter-individual variation in human traits, as well as supporting drug discovery applications. Shell, R, Perl and Python scripts and STOPGAP R data files (version 2.5.1 at publication) are available at https://github.com/StatGenPRD/STOPGAP . Some of the most useful STOPGAP fields can be queried through an R Shiny web application at http://stopgapwebapp.com . matthew.r.nelson@gsk.com. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  14. A Systematic Genetic Screen to Dissect the MicroRNA Pathway in Drosophila.

    Science.gov (United States)

    Pressman, Sigal; Reinke, Catherine A; Wang, Xiaohong; Carthew, Richard W

    2012-04-01

    A central goal of microRNA biology is to elucidate the genetic program of miRNA function and regulation. However, relatively few of the effectors that execute miRNA repression have been identified. Because such genes may function in many developmental processes, mutations in them are expected to be pleiotropic and thus are discarded in most standard genetic screens. Here, we describe a systematic screen designed to identify all Drosophila genes in ∼40% of the genome that function in the miRNA pathway. To identify potentially pleiotropic genes, the screen analyzed clones of homozygous mutant cells in heterozygous animals. We identified 45 mutations representing 24 genes, and we molecularly characterized 9 genes. These include 4 previously known genes that encode core components of the miRNA pathway, including Drosha, Pasha, Dicer-1, and Ago1. The rest are new genes that function through chromatin remodeling, signaling, and mRNA decapping. The results suggest genetic screens that use clonal analysis can elucidate the miRNA program and that ∼100 genes are required to execute the miRNA program.

  15. New Nomenclatures for Heat Treatments of Additively Manufactured Titanium Alloys

    Science.gov (United States)

    Baker, Andrew H.; Collins, Peter C.; Williams, James C.

    2017-07-01

    The heat-treatment designations and microstructure nomenclatures for many structural metallic alloys were established for traditional metals processing, such as casting, hot rolling or forging. These terms do not necessarily apply for additively manufactured (i.e., three-dimensionally printed or "3D printed") metallic structures. The heat-treatment terminology for titanium alloys generally implies the heat-treatment temperatures and their sequence relative to a thermomechanical processing step (e.g., forging, rolling). These designations include: β-processing, α + β-processing, β-annealing, duplex annealing and mill annealing. Owing to the absence of a thermomechanical processing step, these traditional designations can pose a problem when titanium alloys are first produced via additive manufacturing, and then heat-treated. This communication proposes new nomenclatures for heat treatments of additively manufactured titanium alloys, and uses the distinct microstructural features to provide a correlation between traditional nomenclature and the proposed nomenclature.

  16. Nomenclatural review of long digital forelimb flexors in carnivores.

    Science.gov (United States)

    Spoor, C F; Badoux, D M

    1986-12-01

    A hitherto-unknown atavistic muscle in the dog initiated a review of the literature on the homologies and nomenclature of the forelimb flexors in carnivores and man. A consequence is that we recommend a revision of the nomenclature in the Nomina Anatomica Veterinaria (Ithaca, New York, 1983) so that it is in agreement with the Nomina Anatomica (Wilkins, Baltimore, 1983). This revision mainly consists of the incorporation of the terms M. palmaris longus and Mm. flexores breves manus.

  17. Ethnic Background and Genetic Variation in the Evaluation of Cancer Risk: A Systematic Review

    Science.gov (United States)

    Jing, Lijun; Su, Li; Ring, Brian Z.

    2014-01-01

    The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in 68 studies across six different cancer types, comparing association results between ethnic groups and examining linkage disequilibrium between risk alleles and nearby genetic loci. We find that the relevance of ethnic background depends on the question. If asked whether the association of variants with disease risk is conserved across ethnic boundaries, we find that the answer is yes, the majority of markers show insignificant variability in association with cancer risk across ethnic groups. However if the question is whether a significant association between a variant and cancer risk is likely to reproduce, the answer is no, most markers do not validate in an ethnic group other than the discovery cohort’s ancestry. This lack of reproducibility is not attributable to studies being inadequately populated due to low allele frequency in other ethnic groups. Instead, differences in local genomic structure between ethnic groups are associated with the strength of association with cancer risk and therefore confound interpretation of the implied physiologic association tracked by the disease allele. This suggest that a biological association for cancer risk alleles may be broadly consistent across ethnic boundaries, but reproduction of a clinical study in another ethnic group is uncommon, in part due to confounding genomic architecture. As clinical studies are increasingly performed globally this has important implications for how cancer risk stratifiers should be studied and

  18. Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.

    Science.gov (United States)

    Jing, Lijun; Su, Li; Ring, Brian Z

    2014-01-01

    The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in 68 studies across six different cancer types, comparing association results between ethnic groups and examining linkage disequilibrium between risk alleles and nearby genetic loci. We find that the relevance of ethnic background depends on the question. If asked whether the association of variants with disease risk is conserved across ethnic boundaries, we find that the answer is yes, the majority of markers show insignificant variability in association with cancer risk across ethnic groups. However if the question is whether a significant association between a variant and cancer risk is likely to reproduce, the answer is no, most markers do not validate in an ethnic group other than the discovery cohort's ancestry. This lack of reproducibility is not attributable to studies being inadequately populated due to low allele frequency in other ethnic groups. Instead, differences in local genomic structure between ethnic groups are associated with the strength of association with cancer risk and therefore confound interpretation of the implied physiologic association tracked by the disease allele. This suggest that a biological association for cancer risk alleles may be broadly consistent across ethnic boundaries, but reproduction of a clinical study in another ethnic group is uncommon, in part due to confounding genomic architecture. As clinical studies are increasingly performed globally this has important implications for how cancer risk stratifiers should be studied and employed.

  19. Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.

    Directory of Open Access Journals (Sweden)

    Lijun Jing

    Full Text Available The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in 68 studies across six different cancer types, comparing association results between ethnic groups and examining linkage disequilibrium between risk alleles and nearby genetic loci. We find that the relevance of ethnic background depends on the question. If asked whether the association of variants with disease risk is conserved across ethnic boundaries, we find that the answer is yes, the majority of markers show insignificant variability in association with cancer risk across ethnic groups. However if the question is whether a significant association between a variant and cancer risk is likely to reproduce, the answer is no, most markers do not validate in an ethnic group other than the discovery cohort's ancestry. This lack of reproducibility is not attributable to studies being inadequately populated due to low allele frequency in other ethnic groups. Instead, differences in local genomic structure between ethnic groups are associated with the strength of association with cancer risk and therefore confound interpretation of the implied physiologic association tracked by the disease allele. This suggest that a biological association for cancer risk alleles may be broadly consistent across ethnic boundaries, but reproduction of a clinical study in another ethnic group is uncommon, in part due to confounding genomic architecture. As clinical studies are increasingly performed globally this has important implications for how cancer risk stratifiers should be

  20. Systematic screening for CYP3A4 genetic polymorphisms in a Han Chinese population.

    Science.gov (United States)

    Hu, Guo-Xin; Dai, Da-Peng; Wang, Hao; Huang, Xiang-Xin; Zhou, Xiao-Yang; Cai, Jie; Chen, Hao; Cai, Jian-Ping

    2017-03-01

    To systematically investigate the genetic polymorphisms of the CYP3A4 gene in a Han Chinese population. The promoter and exons of CYP3A4 gene in 1114 unrelated, healthy Han Chinese subjects were amplified and genotyped by direct sequencing. In total, five previously reported alleles (*1G, *4, *5, *18B and *23) were detected, of which one allele (*23) was reported for the first time in Han Chinese population. Additionally, seven novel exonic variants were also identified and designated as new alleles CYP3A4*28-*34. This study provides the most comprehensive data of CYP3A4 polymorphisms in Han Chinese population and detects the largest number of novel CYP3A4 alleles in one ethnic group.

  1. The genetic and environmental influences on childhood obesity: a systematic review of twin and adoption studies

    DEFF Research Database (Denmark)

    Silventoinen, K; Rokholm, B; Kaprio, J

    2010-01-01

    In this systematic review, we aimed to collect together all previous twin and adoption studies on childhood and adolescent obesity up to the age of 18 years. Using several sources, we identified nine twin and five adoption studies; all of these studies had used relative weight as an indicator...... a substantial effect in mid-childhood, but this effect disappeared at adolescence. Adoption studies supported the role of family environment in childhood obesity as correlations were found between adoptees and adoptive parents; however, correlations were substantially stronger between parents...... of obesity. Except the two twin studies from the Korean population, all studies represented Caucasian populations. In a meta-analysis of these twin studies, we found that genetic factors had a strong effect on the variation of body mass index (BMI) at all ages. The common environmental factors showed...

  2. Genetic Algorithm Phase Retrieval for the Systematic Image-Based Optical Alignment Testbed

    Science.gov (United States)

    Taylor, Jaime; Rakoczy, John; Steincamp, James

    2003-01-01

    Phase retrieval requires calculation of the real-valued phase of the pupil fimction from the image intensity distribution and characteristics of an optical system. Genetic 'algorithms were used to solve two one-dimensional phase retrieval problem. A GA successfully estimated the coefficients of a polynomial expansion of the phase when the number of coefficients was correctly specified. A GA also successfully estimated the multiple p h e s of a segmented optical system analogous to the seven-mirror Systematic Image-Based Optical Alignment (SIBOA) testbed located at NASA s Marshall Space Flight Center. The SIBOA testbed was developed to investigate phase retrieval techniques. Tiphilt and piston motions of the mirrors accomplish phase corrections. A constant phase over each mirror can be achieved by an independent tip/tilt correction: the phase Conection term can then be factored out of the Discrete Fourier Tranform (DFT), greatly reducing computations.

  3. Systematic analysis of the heat exchanger arrangement problem using multi-objective genetic optimization

    International Nuclear Information System (INIS)

    Daróczy, László; Janiga, Gábor; Thévenin, Dominique

    2014-01-01

    A two-dimensional cross-flow tube bank heat exchanger arrangement problem with internal laminar flow is considered in this work. The objective is to optimize the arrangement of tubes and find the most favorable geometries, in order to simultaneously maximize the rate of heat exchange while obtaining a minimum pressure loss. A systematic study was performed involving a large number of simulations. The global optimization method NSGA-II was retained. A fully automatized in-house optimization environment was used to solve the problem, including mesh generation and CFD (computational fluid dynamics) simulations. The optimization was performed in parallel on a Linux cluster with a very good speed-up. The main purpose of this article is to illustrate and analyze a heat exchanger arrangement problem in its most general form and to provide a fundamental understanding of the structure of the Pareto front and optimal geometries. The considered conditions are particularly suited for low-power applications, as found in a growing number of practical systems in an effort toward increasing energy efficiency. For such a detailed analysis with more than 140 000 CFD-based evaluations, a design-of-experiment study involving a response surface would not be sufficient. Instead, all evaluations rely on a direct solution using a CFD solver. - Highlights: • Cross-flow tube bank heat exchanger arrangement problem. • A fully automatized multi-objective optimization based on genetic algorithm. • A systematic study involving a large number of CFD (computational fluid dynamics) simulations

  4. Phase Retrieval Using a Genetic Algorithm on the Systematic Image-Based Optical Alignment Testbed

    Science.gov (United States)

    Taylor, Jaime R.

    2003-01-01

    NASA s Marshall Space Flight Center s Systematic Image-Based Optical Alignment (SIBOA) Testbed was developed to test phase retrieval algorithms and hardware techniques. Individuals working with the facility developed the idea of implementing phase retrieval by breaking the determination of the tip/tilt of each mirror apart from the piston motion (or translation) of each mirror. Presented in this report is an algorithm that determines the optimal phase correction associated only with the piston motion of the mirrors. A description of the Phase Retrieval problem is first presented. The Systematic Image-Based Optical Alignment (SIBOA) Testbeb is then described. A Discrete Fourier Transform (DFT) is necessary to transfer the incoming wavefront (or estimate of phase error) into the spatial frequency domain to compare it with the image. A method for reducing the DFT to seven scalar/matrix multiplications is presented. A genetic algorithm is then used to search for the phase error. The results of this new algorithm on a test problem are presented.

  5. Genetics of borderline personality disorder: systematic review and proposal of an integrative model.

    Science.gov (United States)

    Amad, Ali; Ramoz, Nicolas; Thomas, Pierre; Jardri, Renaud; Gorwood, Philip

    2014-03-01

    Borderline personality disorder (BPD) is one of the most common mental disorders and is characterized by a pervasive pattern of emotional lability, impulsivity, interpersonal difficulties, identity disturbances, and disturbed cognition. Here, we performed a systematic review of the literature concerning the genetics of BPD, including familial and twin studies, association studies, and gene-environment interaction studies. Moreover, meta-analyses were performed when at least two case-control studies testing the same polymorphism were available. For each gene variant, a pooled odds ratio (OR) was calculated using fixed or random effects models. Familial and twin studies largely support the potential role of a genetic vulnerability at the root of BPD, with an estimated heritability of approximately 40%. Moreover, there is evidence for both gene-environment interactions and correlations. However, association studies for BPD are sparse, making it difficult to draw clear conclusions. According to our meta-analysis, no significant associations were found for the serotonin transporter gene, the tryptophan hydroxylase 1 gene, or the serotonin 1B receptor gene. We hypothesize that such a discrepancy (negative association studies but high heritability of the disorder) could be understandable through a paradigm shift, in which "plasticity" genes (rather than "vulnerability" genes) would be involved. Such a framework postulates a balance between positive and negative events, which interact with plasticity genes in the genesis of BPD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. Preimplantation genetic diagnosis: a systematic review of litigation in the face of new technology.

    Science.gov (United States)

    Amagwula, Tochi; Chang, Peter L; Hossain, Amjad; Tyner, Joey; Rivers, Aimée L; Phelps, John Y

    2012-11-01

    To study legal cases against IVF facilities pertaining to preimplantation genetic diagnosis (PGD) misdiagnosis. Systematic case law review. University medical center using US legal databases. The IVF recipients using PGD services. Lawsuits pertaining to PGD against IVF facilities. Lawsuits, court rulings, damage awards, and settlements pertaining to PGD after the birth of a child with a genetic defect. Causes of action pertaining to PGD arise from negligence in performing the procedure as well as failure to properly inform patients of key information, such as inherent errors associated with the PGD process, a facility's minimal experience in performing PGD, and the option of obtaining PGD. Courts have sympathized with the financial burden involved in caring for children with disabilities. Monetary damage awards are based on the costs of caring for children with debilitating defects, including lifetime medical and custodial care. Facilities offering PGD services expose themselves to a new realm of liability in which damage awards can easily exceed the limits of a facility's insurance policy. Competent laboratory personnel and proper informed consent--with particular care to inform patients of the inherent inaccuracies of PGD--are crucial in helping deter liability. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. A systematic approach to assessing the clinical significance of genetic variants.

    Science.gov (United States)

    Duzkale, H; Shen, J; McLaughlin, H; Alfares, A; Kelly, M A; Pugh, T J; Funke, B H; Rehm, H L; Lebo, M S

    2013-11-01

    Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from in vivo or in vitro studies, and computational predictions of potential impacts of each variant. Finally, we weigh all evidence to reach an overall conclusion on the potential for each variant to be disease causing. In this report, we highlight the principles of variant assessment, address the caveats and pitfalls, and provide examples to illustrate the process. By sharing our experience and providing a framework for variant assessment, including access to a freely available customizable tool, we hope to help move towards standardized and consistent approaches to variant assessment. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. 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.

  9. Genetic Variations as Modifying Factors to Dietary Zinc Requirements—A Systematic Review

    Directory of Open Access Journals (Sweden)

    Kaitlin J. Day

    2017-02-01

    Full Text Available Due to reduced cost and accessibility, the use of genetic testing has appealed to health professionals for personalising nutrition advice. However, translation of the evidence linking polymorphisms, dietary requirements, and pathology risk proves to be challenging for nutrition and dietetic practitioners. Zinc status and polymorphisms of genes coding for zinc-transporters have been associated with chronic diseases. The present study aimed to systematically review the literature to assess whether recommendations for zinc intake could be made according to genotype. Eighteen studies investigating 31 Single Nucleotide Polymorphisms (SNPs in relation to zinc intake and/or status were identified. Five studies examined type 2 diabetes; zinc intake was found to interact independently with two polymorphisms in the zinc-transporter gene SLC30A8 to affect glucose metabolism indicators. While the outcomes were statistically significant, the small size of the effect and lack of replication raises issues regarding translation into nutrition and dietetic practice. Two studies assessed the relationship of polymorphisms and cognitive performance; seven studies assessed the association between a range of outcomes linked to chronic conditions in aging population; two papers described the analysis of the genetic contribution in determining zinc concentration in human milk; and two papers assessed zinc concentration in plasma without linking to clinical outcomes. The data extracted confirmed a connection between genetics and zinc requirements, although the direction and magnitude of the dietary modification for carriers of specific genotypes could not be defined. This study highlights the need to summarise nutrigenetics studies to enable health professionals to translate scientific evidence into dietary recommendations.

  10. The role of host genetic factors in respiratory tract infectious diseases: systematic review, meta-analyses and field synopsis

    NARCIS (Netherlands)

    Patarčić, Inga; Gelemanović, Andrea; Kirin, Mirna; Kolčić, Ivana; Theodoratou, Evropi; Baillie, Kenneth J.; de Jong, Menno D.; Rudan, Igor; Campbell, Harry; Polašek, Ozren

    2015-01-01

    Host genetic factors have frequently been implicated in respiratory infectious diseases, often with inconsistent results in replication studies. We identified 386 studies from the total of 24,823 studies identified in a systematic search of four bibliographic databases. We performed meta-analyses of

  11. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

    NARCIS (Netherlands)

    van der Tol, L.; Smid, B. E.; Poorthuis, B. J. H. M.; Biegstraaten, M.; Deprez, R. H. Lekanne; Linthorst, G. E.; Hollak, C. E. M.

    2014-01-01

    Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the

  12. Nomenclatural notes on living and fossil amphibians

    Directory of Open Access Journals (Sweden)

    Martín, C.

    2012-06-01

    Full Text Available A review of extinct and living amphibians known from fossils (Allocaudata, Anura and Caudata has revealed several cases that require nomenclatural changes in order to stabilize the taxonomy of the group. Nomenclatural changes include homonym replacements, corrections of spelling variants and authorships, name availabilities, and in particular, the proposal of new combinations. These changes will allow the incorporation of some palaeontological taxa to the current evolutionary models of relationship of modern forms based on molecular phylogenies. Rana cadurcorum for Rana plicata Filhol, 1877, Rana auscitana for Rana pygmaea Lartet, 1851, and Rana sendoa for Rana robusta Brunner, 1956. Anchylorana Taylor, 1942 is considered a new synonym of Lithobates Fitzinger, 1843. New combinations proposed are: Anaxyrus defensor for Bufo defensor Meylan, 2005; Anaxyrus hibbardi for Bufo hibbardi Taylor, 1937; Anaxyrus pliocompactilis for Bufo pliocompactilis Wilson, 1968; Anaxyrus repentinus for Bufo repentinus Tihen, 1962; Anaxyrus rexroadensis for Bufo rexroadensis Tihen, 1962; Anaxyrus spongifrons for Bufo spongifrons Tihen, 1962; Anaxyrus suspectus for Bufo suspectus Tihen, 1962; Anaxyrus tiheni for Bufo tiheni Auffenberg, 1957; Anaxyrus valentinensis for Bufo valentinensis Estes et Tihen, 1964; Ichthyosaura wintershofi for Triturus wintershofi Lunau, 1950; Incilius praevius for Bufo praevius Tihen, 1951; Lithobates bucella for Rana bucella Holman, 1965; Lithobates dubitus for Anchylorana dubita Taylor, 1942; Lithobates fayeae for Rana fayeae Taylor, 1942; Lithobates miocenicus for Rana miocenica Holman, 1965; Lithobates moorei for Anchylorana moorei Taylor, 1942; Lithobates parvissimus for Rana parvissima

  13. Photographers’ Nomenclature Units: A Structural and Quantitative Analysis

    Directory of Open Access Journals (Sweden)

    Margarita A. Mihailova

    2017-11-01

    Full Text Available Addressing the needs of cross and intercultural communication as well as the methodology of contrastive research, the paper presents the results of the complex analysis conducted to describe semantic and pragmatic parameters of nomenclature units denoting photography equipment in the modern Russian informal discourse of professional photographers. The research is exemplified by 34 original nomenclature units and their 34 Russian equivalents used in 6871 comments posted at “Клуб.Foto.ru” web-site in 2015. The structural and quantitative analyses of photographers’ nomenclature demonstrate the users’ morphological and graphic preferences and indirectly reflect their social and professional values. The corpus-based approach developed by Kast-Aigner (2009: 141 was applied in the study with the aim to identify the nomenclature units denoting photography equipment, validate and elaborate the data of the existing corpus. The research also throws light on the problems of professional language development and derivational processes. The perspective of the study lies in the research of the broader context of professional nomenclature.

  14. Anatomical terminology and nomenclature: past, present and highlights.

    Science.gov (United States)

    Kachlik, David; Baca, Vaclav; Bozdechova, Ivana; Cech, Pavel; Musil, Vladimir

    2008-08-01

    The anatomical terminology is a base for medical communication. It is elaborated into a nomenclature in Latin. Its history goes back to 1895, when the first Latin anatomical nomenclature was published as Basiliensia Nomina Anatomica. It was followed by seven revisions (Jenaiensia Nomina Anatomica 1935, Parisiensia Nomina Anatomica 1955, Nomina Anatomica 2nd to 6th edition 1960-1989). The last revision, Terminologia Anatomica, (TA) created by the Federative Committee on Anatomical Terminology and approved by the International Federation of Associations of Anatomists, was published in 1998. Apart from the official Latin anatomical terminology, it includes a list of recommended English equivalents. In this article, major changes and pitfalls of the nomenclature are discussed, as well as the clinical anatomy terms. The last revision (TA) is highly recommended to the attention of not only teachers, students and researchers, but also to clinicians, doctors, translators, editors and publishers to be followed in their activities.

  15. Historical Perspectives and Guidelines for Botulinum Neurotoxin Subtype Nomenclature

    Directory of Open Access Journals (Sweden)

    Michael W. Peck

    2017-01-01

    Full Text Available Botulinum neurotoxins are diverse proteins. They are currently represented by at least seven serotypes and more than 40 subtypes. New clostridial strains that produce novel neurotoxin variants are being identified with increasing frequency, which presents challenges when organizing the nomenclature surrounding these neurotoxins. Worldwide, researchers are faced with the possibility that toxins having identical sequences may be given different designations or novel toxins having unique sequences may be given the same designations on publication. In order to minimize these problems, an ad hoc committee consisting of over 20 researchers in the field of botulinum neurotoxin research was convened to discuss the clarification of the issues involved in botulinum neurotoxin nomenclature. This publication presents a historical overview of the issues and provides guidelines for botulinum neurotoxin subtype nomenclature in the future.

  16. Tacuarembo formation: its age and a new nomenclatural proposal

    International Nuclear Information System (INIS)

    Soto, M.; Perea, D.; Martinez, S.; Veroslavsky, G.

    2004-01-01

    Tacuarembo Formation: its age and a new nomenclatural proposal. A new nomenclatural proposal concerning the Tacuarembo Formation is formalized, denominating the Lower and Upper members as Martinote Member (stratotype: Cerro Batovi) and Rivera Member (stratotype: Subida de Pena, respectively. The Assemblage-Zone of Priohybodus arambourgi-Asiatoceratodus tiguidensis is defined. Fossil conchostracans and fishes from Martinote Member indicate a Kimmeridgian-Albian age for this unit, which in addition to the stratigraphic relationships with Arapey Formation implies that Tacuarembo Formation was deposited in the Kimmeridgian-Hautevirian interval [es

  17. Imaging genetics paradigms in depression research: Systematic review and meta-analysis.

    Science.gov (United States)

    Pereira, Lícia P; Köhler, Cristiano A; Stubbs, Brendon; Miskowiak, Kamilla W; Morris, Gerwyn; de Freitas, Bárbara P; Thompson, Trevor; Fernandes, Brisa S; Brunoni, André R; Maes, Michael; Pizzagalli, Diego A; Carvalho, André F

    2018-05-17

    Imaging genetics studies involving participants with major depressive disorder (MDD) have expanded. Nevertheless, findings have been inconsistent. Thus, we conducted a systematic review and meta-analysis of imaging genetics studies that enrolled MDD participants across major databases through June 30th, 2017. Sixty-five studies met eligibility criteria (N = 4034 MDD participants and 3293 controls), and there was substantial between-study variability in the methodological quality of included studies. However, few replicated findings emerged from this literature with only 22 studies providing data for meta-analyses (882 participants with MDD and 616 controls). Total hippocampal volumes did not significantly vary in MDD participants or controls carrying either the BDNF Val66Met 'Met' (386 participants with MDD and 376 controls) or the 5-HTTLPR short 'S' (310 participants with MDD and 230 controls) risk alleles compared to non-carriers. Heterogeneity across studies was explored through meta-regression and subgroup analyses. Gender distribution, the use of medications, segmentation methods used to measure the hippocampus, and age emerged as potential sources of heterogeneity across studies that assessed the association of 5-HTTLPR short 'S' alleles and hippocampal volumes. Our data also suggest that the methodological quality of included studies, publication year, and the inclusion of brain volume as a covariate contributed to the heterogeneity of studies that assessed the association of the BDNF Val66Met 'Met' risk allele and hippocampal volumes. In exploratory voxel-wise meta-analyses, MDD participants carrying the 5-HTTLPR short 'S' allele had white matter microstructural abnormalities predominantly in the corpus callosum, while carriers of the BDNF Val66Met 'Met' allele had larger gray matter volumes and hyperactivation of the right middle frontal gyrus compared to non-carriers. In conclusion, few replicated findings emerged from imaging genetics studies that

  18. A systematic review of genetic studies of thyroid disorders in Taiwan

    Directory of Open Access Journals (Sweden)

    Chun-Jui Huang

    2015-03-01

    Full Text Available A systematic review of genetic studies of thyroid disorders in Taiwan identified studies of gene mutations involved in the synthesis and binding of thyroid hormone, as well as mutations of proto-oncogenes and tumor suppressor genes in thyroid cancer. Studies related to gene polymorphisms in patients with autoimmune thyroid disease (AITD and thyroid cancer were also reviewed. The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO gene and c.919-2A>G in the Pendred syndrome (PDS gene. Additional mutations have also been revealed in the genes encoding TPO (n = 5, thyroglobulin (TG; n = 6, pendrin (n = 2, and thyroxine-binding globulin (TBG; n = 2, which were novel at the time they were reported. The prevalence of various somatic mutations in differentiated thyroid cancer was similar in Taiwan and Western countries, with the RAS kinase mutation and tyrosine receptor kinase (TRK and rearranged during transfection (RET proto-oncogenes being detected in lower frequencies and the B-type RAF kinase (BRAF mutation accounting for the majority of cases. Recent microRNA analysis revealed an association between miR146b and the BRAF mutation, which was associated with poor prognosis of papillary thyroid carcinoma (PTC. Susceptibility to Graves' disease (GD was linked to the human leukocyte antigen (HLA region. The associated alleles were different in Han-Chinese and Caucasians; HLA-DPB1*0501, the major allele in Taiwan, has a low frequency in the West. By contrast, a high frequency of HLA-DRB1*0301 was detected in Caucasians but not Han-Chinese. In addition to the HLA region, cytotoxic T lymphocyte-associated molecule-4 (CTLA4 gene polymorphisms +49G>A and +6230G>A (CT60 were positively associated with GD. The GG genotype and G allele of single nucleotide polymorphism (SNP +49G>A were also related to relapse of Graves' hyperthyroidism after antithyroid drug withdrawal. Differences in the genetic

  19. Influence of nomenclature in the interpretation of lumbar disk contour on MR imaging: a comparison of the agreement using the combined task force and the nordic nomenclatures.

    Science.gov (United States)

    Arana, E; Kovacs, F M; Royuela, A; Estremera, A; Sarasíbar, H; Amengual, G; Galarraga, I; Martínez, C; Muriel, A; Abraira, V; Zamora, J; Campillo, C

    2011-01-01

    The CTF nomenclature had not been tested in clinical practice. The purpose of this study was to compare the reliability and diagnostic confidence in the interpretation of disk contours on lumbar 1.5T MR imaging when using the CTF and the Nordic nomenclatures. Five general radiologists from 3 hospitals blindly and independently assessed intravertebral herniations (Schmorl node) and disk contours on the lumbar MR imaging of 53 patients with low back pain, on 4 occasions. Measures were taken to minimize the risk of recall bias. The Nordic nomenclature was used for the first 2 assessments, and the CTF nomenclature, in the remaining 2. Radiologists had not previously used either of the 2 nomenclatures. κ statistics were calculated separately for reports deriving from each nomenclature and were categorized as almost perfect (0.81-1.00), substantial (0.61-0.80), moderate (0.41-0.60), fair (0.21-0.40), slight (0.00-0.20), and poor (<0.00). Categorization of intra- and interobserver agreement was the same across nomenclatures. Intraobserver reliability was substantial for intravertebral herniations and disk contour abnormalities. Interobserver reliability was moderate for intravertebral herniations and fair to moderate for disk contour. In conditions close to clinical practice, regardless of the specific nomenclature used, a standardized nomenclature supports only moderate interobserver agreement. The Nordic nomenclature increases self-confidence in an individual observer's report but is less clear regarding the classification of disks as normal versus bulged.

  20. On the nomenclature of coelom-derived body cavities.

    Science.gov (United States)

    Knospe, C

    2008-06-01

    A rationalization of terms about the body cavities is urgently needed. Students and practitioners have difficulty in understanding the contradictory terms prevalent at present. For many years, the International Committee on Veterinary Gross Anatomical Nomenclature has failed to bring it off; therefore some proposals for the anatomical instruction until the next edition of the Nomina Anatomica Veterinaria are made.

  1. Nomenclature proposal to describe vocal fold motion impairment

    NARCIS (Netherlands)

    Rosen, Clark A.; Mau, Ted; Remacle, Marc; Hess, Markus; Eckel, Hans E.; Young, VyVy N.; Hantzakos, Anastasios; Yung, Katherine C.; Dikkers, Frederik G.

    2016-01-01

    The terms used to describe vocal fold motion impairment are confusing and not standardized. This results in a failure to communicate accurately and to major limitations of interpreting research studies involving vocal fold impairment. We propose standard nomenclature for reporting vocal fold

  2. Nomenclature proposal to describe vocal fold motion impairment

    NARCIS (Netherlands)

    Rosen, Clark A.; Mau, Ted; Remacle, Marc; Hess, Markus; Eckel, Hans E.; Young, VyVy N.; Hantzakos, Anastasios; Yung, Katherine C.; Dikkers, Frederik G.

    The terms used to describe vocal fold motion impairment are confusing and not standardized. This results in a failure to communicate accurately and to major limitations of interpreting research studies involving vocal fold impairment. We propose standard nomenclature for reporting vocal fold

  3. Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B.; Fisman, David; Lang, Anthony E.; Kleiner-Fisman, Galit

    2016-01-01

    Background Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. Objective We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Methods Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. Results The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p<0.001) and C9orf72 (p = 0.024). 66.5% of subjects had an initial non-movement presentation that was most likely a behavioral syndrome (35.7%). At any point during the disease, parkinsonism was the most common movement syndrome reported in 79.8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12.2% and 10.7%, respectively. The prevalence of movement disorder as initial presentation was higher in MAPT subjects (35.8%) compared to PGRN subjects (10.1). In those with a non-movement presentation, language disorder was more common in PGRN subjects (18.7%) compared to MAPT subjects (5.4%). Summary This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation. PMID:27100392

  4. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    OpenAIRE

    Oliveira, Priscila H. A.; Souza, Beatriz S.; Pacheco, Eimi N.; Menegazzo, Michele S.; Corrêa, Ivan S.; Zen, Paulo R. G.; Rosa, Rafael F. M.; Cesa, Claudia C.; Pellanda, Lucia C.; Vilela, Manuel A. P.

    2018-01-01

    Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional ...

  5. Mitochondrial DNA haplogroup phylogeny of the dog: Proposal for a cladistic nomenclature.

    Science.gov (United States)

    Fregel, Rosa; Suárez, Nicolás M; Betancor, Eva; González, Ana M; Cabrera, Vicente M; Pestano, José

    2015-05-01

    Canis lupus familiaris mitochondrial DNA analysis has increased in recent years, not only for the purpose of deciphering dog domestication but also for forensic genetic studies or breed characterization. The resultant accumulation of data has increased the need for a normalized and phylogenetic-based nomenclature like those provided for human maternal lineages. Although a standardized classification has been proposed, haplotype names within clades have been assigned gradually without considering the evolutionary history of dog mtDNA. Moreover, this classification is based only on the D-loop region, proven to be insufficient for phylogenetic purposes due to its high number of recurrent mutations and the lack of relevant information present in the coding region. In this study, we design 1) a refined mtDNA cladistic nomenclature from a phylogenetic tree based on complete sequences, classifying dog maternal lineages into haplogroups defined by specific diagnostic mutations, and 2) a coding region SNP analysis that allows a more accurate classification into haplogroups when combined with D-loop sequencing, thus improving the phylogenetic information obtained in dog mitochondrial DNA studies. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. The systematics and population genetics of Opisthorchis viverrini sensu lato: implications in parasite epidemiology and bile duct cancer.

    Science.gov (United States)

    Sithithaworn, Paiboon; Andrews, Ross H; Petney, Trevor N; Saijuntha, Weerachai; Laoprom, Nonglak

    2012-03-01

    Together with host and environmental factors, the systematics and population genetic variation of Opisthorchis viverrini may contribute to recorded local and regional differences in epidemiology and host morbidity in opisthorchiasis and cholangiocarcinoma (CCA). In this review, we address recent findings that O. viverrini comprises a species complex with varying degrees of population genetic variation which are associated with specific river wetland systems within Thailand as well as the Lao PDR. Having an accurate understanding of systematics is a prerequisite for a meaningful assessment of the population structure of each species within the O. viverrini complex in nature, as well as a better understanding of the magnitude of genetic variation that occurs within different species of hosts in its life cycle. Whether specific genotypes are related to habitat type(s) and/or specific intermediate host species are discussed based on current available data. Most importantly, we focus on whether there is a correlation between incidence of CCA and genotype(s) of O. viverrini. This will provide a solid basis for further comprehensive investigations of the role of genetic variation within each species of O. viverrini sensu lato in human epidemiology and genotype related morbidity as well as co-evolution of parasites with primary and secondary intermediate species of host. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

    NARCIS (Netherlands)

    B. Giardine (Belinda); J. Borg (Joseph); D.R. Higgs (Douglas); K.R. Peterson (Kenneth R.); J.N.J. Philipsen (Sjaak); D. Maglott (Donna); B.K. Singleton (Belinda K.); D.J. Anstee (David J.); A.N. Basak (Nazli); B.H. Clark (Bruce); F.C. Costa (Flavia C.); P. Faustino (Paula); H. Fedosyuk (Halyna); A.E. Felice (Alex); A. Francina (Alain); R. Galanello (Renzo); M.V.E. Gallivan (Monica V. E.); M. Georgitsi (Marianthi); R.J. Gibbons (Richard J.); P.C. Giordano (Piero Carlo); C.L. Harteveld (Cornelis); J.D. Hoyer (James D.); M. Jarvis (Martin); P. Joly (Philippe); E. Kanavakis (Emmanuel); P. Kollia (Panagoula); S. Menzel (Stephan); W.G. Miller (William); K. Moradkhani (Kamran); J. Old (John); A. Papachatzpoulou (Adamantia); M.N. Papadakis (Manoussos); P. Papadopoulos (Petros); S. Pavlovic (Sonja); L. Perseu (Lucia); M. Radmilovic (Milena); C. Riemer (Cathy); S. Satta (Stefania); I.A. Schrijver (Ingrid); M. Stojiljkovic (Maja); S.L. Thein; J. Traeger-Synodinos (Joanne); R. Tully (Ray); T. Wada (Takahito); J.S. Waye (John); C. Wiemann (Claudia); B. Zukic (Branka); D.H.K. Chui (David H. K.); H. Wajcman (Henri); R. Hardison (Ross); G.P. Patrinos (George)

    2011-01-01

    textabstractWe developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public

  8. Canine susceptibility to visceral leishmaniasis: A systematic review upon genetic aspects, considering breed factors and immunological concepts.

    Science.gov (United States)

    de Vasconcelos, Tassia Cristina Bello; Furtado, Marina Carvalho; Belo, Vínicus Silva; Morgado, Fernanda Nazaré; Figueiredo, Fabiano Borges

    2017-10-05

    Dogs have different susceptibility degrees to leishmaniasis; however, genetic research on this theme is scarce, manly on visceral form. The aims of this systematic review were to describe and discuss the existing scientific findings on genetic susceptibility to canine leishmaniasis, as well as to show the gaps of the existing knowledge. Twelve articles were selected, including breed immunological studies, genome wide associations or other gene polymorphism or gene sequencing studies, and transcription approaches. As main results of literature, there was a suggestion of genetic clinical resistance background for Ibizan Hound dogs, and alleles associated with protection or susceptibility to visceral leishmaniasis in Boxer dogs. Genetic markers can explain phenotypic variance in both pro- and anti-inflammatory cytokines and in cellular immune responses, including antigen presentation. Many gene segments are involved in canine visceral leishmaniasis phenotype, with Natural Resistance Associated Macrophage Protein 1 (NRAMP1) as the most studied. This was related to both protection and susceptibility. In comparison with murine and human genetic approaches, lack of knowledge in dogs is notorious, with many possibilities for new studies, revealing a wide field to be assessed on canine leishmaniasis susceptibility research. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Toward a unified nomenclature for mammalian ADP-ribosyltransferases.

    Science.gov (United States)

    Hottiger, Michael O; Hassa, Paul O; Lüscher, Bernhard; Schüler, Herwig; Koch-Nolte, Friedrich

    2010-04-01

    ADP-ribosylation is a post-translational modification of proteins catalyzed by ADP-ribosyltransferases. It comprises the transfer of the ADP-ribose moiety from NAD+ to specific amino acid residues on substrate proteins or to ADP-ribose itself. Currently, 22 human genes encoding proteins that possess an ADP-ribosyltransferase catalytic domain are known. Recent structural and enzymological evidence of poly(ADP-ribose)polymerase (PARP) family members demonstrate that earlier proposed names and classifications of these proteins are no longer accurate. Here we summarize these new findings and propose a new consensus nomenclature for all ADP-ribosyltransferases (ARTs) based on the catalyzed reaction and on structural features. A unified nomenclature would facilitate communication between researchers both inside and outside the ADP-ribosylation field. 2009 Elsevier Ltd. All rights reserved.

  10. Standardized CT protocols and nomenclature: better, but not yet there

    Energy Technology Data Exchange (ETDEWEB)

    Singh, Sarabjeet; Kalra, Mannudeep K. [Harvard Medical School, Department of Radiology, Massachusetts General Hospital, Boston, MA (United States)

    2014-10-15

    Radiation dose associated with CT is an important safety concern in patient care, especially in children. Technical advancements in multidetector-row CT scanner technology offer several advantages for clinical applications; these advancements have considerably increased CT utilization and enhanced the complexity of CT scanning protocols. Furthermore there are several scan manufacturers spearheading these technical advancements, leading to different commercial names causing confusion among the users, especially at imaging sites with scanners from different vendors. Several scientific studies and the National Council on Radiation Protection and Measurements (NCRP) have shown variation in CT radiation doses for same body region and similar scanning protocols. Therefore there is a need for standardization of scanning protocols and nomenclature of scan parameters. The following material reviews the status and challenges in standardization of CT scanning and nomenclature. (orig.)

  11. What is 'fascia'? A review of different nomenclatures.

    Science.gov (United States)

    Schleip, Robert; Jäger, Heike; Klingler, Werner

    2012-10-01

    There are many different definitions of fascia. Here the three most common nomenclatures are compared, including that of the Federative International Committee on Anatomical Terminology (1998), the definition included in the latest British edition of Gray's Anatomy (2008) and the newer and more comprehensive terminology suggested at the last international Fascia Research Congress (2012). This review covers which tissues are included and excluded in each of these nomenclatures. The advantages and disadvantages of each terminology system are suggested and related to different fields of application, ranging from histology, tissue repair, to muscular force transmission and proprioception. Interdisciplinary communication involving professionals of different fields is also discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. PALM-COEIN Nomenclature for Abnormal Uterine Bleeding.

    Science.gov (United States)

    Deneris, Angela

    2016-05-01

    Approximately 30% of women will experience abnormal uterine bleeding (AUB) during their life time. Previous terms defining AUB have been confusing and imprecisely applied. As a consequence, both clinical management and research on this common problem have been negatively impacted. In 2011, the International Federation of Gynecology and Obstetrics (FIGO) Menstrual Disorders Group (FMDG) published PALM-COEIN, a new classification system for abnormal bleeding in the reproductive years. Terms such as menorrhagia, menometrorrhagia, metrorrhagia, dysfunctional uterine bleeding, polymenorrhea, oligomenorrhea, and uterine hemorrhage are no longer recommended. The PALM-COEIN system was developed to standardize nomenclature to describe the etiology and severity of AUB. A brief description of the PALM-COEIN nomenclature is presented as well as treatment options for each etiology. Clinicians will frequently encounter women with AUB and should report findings utilizing the PALM-COEIN system. © 2016 by the American College of Nurse-Midwives.

  13. A Systematic Review of Genetic Testing and Lifestyle Behaviour Change: Are We Using High-Quality Genetic Interventions and Considering Behaviour Change Theory?

    Science.gov (United States)

    Horne, Justine; Madill, Janet; O'Connor, Colleen; Shelley, Jacob; Gilliland, Jason

    2018-04-10

    Studying the impact of genetic testing interventions on lifestyle behaviour change has been a priority area of research in recent years. Substantial heterogeneity exists in the results and conclusions of this literature, which has yet to be explained using validated behaviour change theory and an assessment of the quality of genetic interventions. The theory of planned behaviour (TPB) helps to explain key contributors to behaviour change. It has been hypothesized that personalization could be added to this theory to help predict changes in health behaviours. This systematic review provides a detailed, comprehensive identification, assessment, and summary of primary research articles pertaining to lifestyle behaviour change (nutrition, physical activity, sleep, and smoking) resulting from genetic testing interventions. The present review further aims to provide in-depth analyses of studies conducted to date within the context of the TPB and the quality of genetic interventions provided to participants while aiming to determine whether or not genetic testing facilitates changes in lifestyle habits. This review is timely in light of a recently published "call-to-action" paper, highlighting the need to incorporate the TPB into personalized healthcare behaviour change research. Three bibliographic databases, one key website, and article reference lists were searched for relevant primary research articles. The PRISMA Flow Diagram and PRISMA Checklist were used to guide the search strategy and manuscript preparation. Out of 32,783 titles retrieved, 26 studies met the inclusion criteria. Three quality assessments were conducted and included: (1) risk of bias, (2) quality of genetic interventions, and (3) consideration of theoretical underpinnings - primarily the TPB. Risk of bias in studies was overall rated to be "fair." Consideration of the TPB was "poor," with no study making reference to this validated theory. While some studies (n = 11; 42%) made reference to other

  14. Estimation of indirect genetic effects in group-housed mink (Neovison vison) should account for systematic interactions either due to kin or sex

    DEFF Research Database (Denmark)

    Alemu, Setegn Worku; Berg, Peer; Janss, Luc

    2016-01-01

    interactions in group-housed mink. Furthermore, we investigated whether systematic non-genetic interactions between kin or individuals of the same sex influence the estimates of genetic parameters. As a second objective, we clarify the relationship between estimates of the traditional IGE model and a family...

  15. IAU nomenclature for albedo features on the planet Mercury

    Science.gov (United States)

    Dollfus, A.; Chapman, C. R.; Davies, M. E.; Gingerich, O.; Goldstein, R.; Guest, J.; Morrison, D.; Smith, B. A.

    1978-01-01

    The International Astronomical Union has endorsed a nomenclature for the albedo features on Mercury. Designations are based upon the mythological names related to the god Hermes; they are expressed in Latin form. The dark-hued albedo features are associated with the generic term Solitudo. The light-hued areas are designated by a single name without generic term. The 32 names adopted are allocated on the Mercury map.

  16. Contralateral Vocal Fold Reactive Lesions: Nomenclature, Treatment Choice, and Outcome.

    Science.gov (United States)

    Koss, Shira L; Kidwai, Sarah M; Pitman, Michael J

    2016-06-01

    Contralateral reactive lesions (RLs) represent a distinct entity among benign bilateral vocal fold (VF) lesions. Lack of uniform nomenclature and a myriad of surgical options have hampered attempts to develop treatment guidelines. The objective of this study is to better define RLs and their prognosis, through the development of a standard nomenclature, with an aim to guide treatment and delineate the role of phonosurgery. Case series with chart review. Tertiary care center. Analysis was performed on patients with Current Procedural Terminology code 31545. Operative reports with a primary lesion and contralateral RL were included. Outcomes included the Voice Handicap Index-10 (VHI-10) and GRBAS (grade, roughness, breathiness, asthenia, and strain) scale, lesion persistence/recurrence, mucosal wave, and edge character based on blinded videostroboscopy review. A nomenclature was developed based on intraoperative RLs (n = 30), defined by lesion consistency (fibrous or polypoid) and relationship to normal VF edge (gradual or steep). Reactive lesion treatment included no intervention, excision, potassium titanyl phosphate laser, steroid injection, or a combination thereof. Observations included the following: inconsistent treatment modalities were employed, excision of RLs did not yield better outcomes, fibrous RLs were more likely to persist and polypoid lesions more likely to recur, gradual lesions were more likely to remain disease free, and most treatments showed improved mucosal wave, VHI-10, and GRBAS. Reactive lesions have not been well classified, and treatments are based on subjective intraoperative decision making with unpredictable outcomes. The nomenclature proposed will allow for a better definition of the RL and provide a framework for future research to identify optimal treatment. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

  17. Failed PCR of Ganoderma type specimens affects nomenclature.

    Science.gov (United States)

    Paterson, R R M; Lima, N

    2015-06-01

    The nomenclature of Ganoderma used as a Chinese medicine is debated. A group of researchers could not amplify the DNA of type specimens and concluded the DNA was degraded irreparably. New topotypes were used as the type specimens which was premature. The use of internal amplification controls is recommended to determine if other factors were involved as alternative explanations. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

    Science.gov (United States)

    Oliveira, Priscila H A; Souza, Beatriz S; Pacheco, Eimi N; Menegazzo, Michele S; Corrêa, Ivan S; Zen, Paulo R G; Rosa, Rafael F M; Cesa, Claudia C; Pellanda, Lucia C; Vilela, Manuel A P

    2018-01-01

    Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  19. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    Directory of Open Access Journals (Sweden)

    Priscila H. A. Oliveira

    Full Text Available Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%, interventricular communication (51.6%, patent ductus arteriosus (35.4%, pulmonary artery stenosis (25.8% and tetralogy of Fallot (22.5%. Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  20. Nomenclatural realignment of Neotyphodium species with genus Epicholë.

    Science.gov (United States)

    Leuchtmann, Adrian; Bacon, Charles W; Schardl, Christopher L; White, James F; Tadych, Mariusz

    2014-01-01

    Nomenclatural rule changes in the International Code of Nomenclature for algae, fungi and plants, adopted at the 18th International Botanical Congress in Melbourne, Australia, in 2011, provide for a single name to be used for each fungal species. The anamorphs of Epichloë species have been classified in genus Neotyphodium, the form genus that also includes most asexual Epichloë descendants. A nomenclatural realignment of this monophyletic group into one genus would enhance a broader understanding of the relationships and common features of these grass endophytes. Based on the principle of priority of publication we propose to classify all members of this clade in the genus Epichloë. We have reexamined classification of several described Epichloë and Neotyphodium species and varieties and propose new combinations and states. In this treatment we have accepted 43 unique taxa in Epichloë, including distinct species, subspecies, and varieties. We exclude from Epichloë the two taxa Neotyphodium starrii, as nomen dubium, and Neotyphodium chilense, as an unrelated taxon.

  1. Attitudes towards "disorders of sex development" nomenclature among affected individuals.

    Science.gov (United States)

    Johnson, Emilie K; Rosoklija, Ilina; Finlayson, Courtney; Chen, Diane; Yerkes, Elizabeth B; Madonna, Mary Beth; Holl, Jane L; Baratz, Arlene B; Davis, Georgiann; Cheng, Earl Y

    2017-12-01

    Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms. A web-based survey was developed in collaboration with the AIS-DSDSG (Androgen Insensitivity Syndrome-DSD Support Group) leadership. AIS-DSDSG members (caregivers and affected individuals) were surveyed about attitudes towards DSD, potential impact on healthcare utilization, and alternate terms. A qualitative analysis of reasons for using/avoiding specific terms was performed. Surveys were completed by 202 out of 580 (35%) AIS-DSDSG members (61% affected, 39% caregivers; 16% non-gender binary; age range of affected individuals 0-86 years). Only 24% use disorder of sex development to describe themselves/their child. A majority (69%) had a negative emotional experience because of clinical use of nomenclature; 81% changed their care because of it. Preferred and non-preferred terms for clinical care and research are illustrated in the figure. Preferred diagnostic terms were intersex, variation in sex development, and difference of sex development (55%, 52%, and 50% liked/strongly liked, respectively). Disorder of sex development was not preferred (17% liked/strongly liked). About one-third reported that they would not attend a clinic named the Disorder of Sex Development Clinic. Overall, 81% provided qualitative comments; flexible terminology use was a key theme. These study findings are consistent with previous

  2. Planetary Nomenclature: An Overview and Update for 2017

    Science.gov (United States)

    Gaither, Tenielle; Hayward, Rose; IAU Working GroupPlanetary System Nomenclature

    2017-10-01

    The task of naming planetary surface features, rings, and natural satellites is managed by the International Astronomical Union’s (IAU) Working Group for Planetary System Nomenclature (WGPSN). There are currently 15,361 IAU-approved surface feature names on 41 planetary bodies, including moons and asteroids. The members of the WGPSN and its task groups have worked since the early 1970s to provide a clear, unambiguous system of planetary nomenclature that represents cultures and countries from all regions of Earth. WGPSN members include Rita Schulz (Chair) and 9 other members representing countries around the globe. The participation of knowledgeable scientists and experts in this process is vital to its success of the IAU WGPSN . Planetary nomenclature is a tool used to uniquely identify features on the surfaces of planets or satellites so they can be located, described, and discussed in publications, including peer-review journals, maps and conference presentations. Approved names are listed in the Transactions of the IAU and on the Gazetteer of Planetary Nomenclature website. Any names currently in use that are not listed the Gazetteer are not official. Planetary names must adhere to rules and conventions established by the IAU WGPSN (see http://planetarynames.wr.usgs.gov/Page/Rules for the complete list). The gazetteer includes an online Name Request Form (http://planetarynames.wr.usgs.gov/FeatureNameRequest) that can be used by members of the professional science community. Name requests are first reviewed by one of six task groups (Mercury, Venus, Moon, Mars, Outer Solar System, and Small Bodies). After a task group has reviewed a proposal, it is submitted to the WGPSN. Allow four to six weeks for the review and approval process. Upon WGPSN approval, names are considered formally approved and it is then appropriate to use them in publications. Approved names are immediately entered into the database and shown on the website. Questions about the nomenclature

  3. Influence of genetic variants on toxicity to anti-tubercular agents: a systematic review and meta-analysis (protocol).

    Science.gov (United States)

    Richardson, Marty; Kirkham, Jamie; Dwan, Kerry; Sloan, Derek; Davies, Geraint; Jorgensen, Andrea

    2017-07-13

    Tuberculosis patients receiving anti-tuberculosis treatment may experience serious adverse drug reactions, such as hepatotoxicity. Genetic risk factors, such as polymorphisms of the NAT2, CYP2E1 and GSTM1 genes, may increase the risk of experiencing such toxicity events. Many pharmacogenetic studies have investigated the association between genetic variants and anti-tuberculosis drug-related toxicity events, and several meta-analyses have synthesised data from these studies, although conclusions from these meta-analyses are conflicting. Many meta-analyses also have serious methodological limitations, such as applying restrictive inclusion criteria, or not assessing the quality of included studies. Most also only consider hepatotoxicity outcomes and specific genetic variants. The purpose of this systematic review and meta-analysis is to give a comprehensive evaluation of the evidence base for associations between any genetic variant and anti-tuberculosis drug-related toxicity. We will search for studies in MEDLINE, EMBASE, BIOSIS and Web of Science. We will also hand search reference lists from relevant studies and contact experts in the field. We will include cohort studies, case-control studies and randomised controlled trials that recruited patients with tuberculosis who were either already established on anti-tuberculosis treatment or were commencing treatment and who were genotyped to investigate the effect of genetic variants on any anti-tuberculosis drug-related toxicity outcome. One author will screen abstracts to identify potentially relevant studies and will then obtain the full text for each potentially relevant study in order to assess eligibility. At each of these stages, a second author will independently screen/assess 10% of studies. Two authors will independently extract data and assess the quality of studies using a pre-piloted data extraction form. If appropriate, we will pool estimates of effect for each genotype on each outcome using meta

  4. Systematic review genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases

    DEFF Research Database (Denmark)

    Sørensen, Signe Bek; Nielsen, J V; Bo Bojesen, Anders

    2016-01-01

    BACKGROUND: Personalised medicine, including biomarkers for treatment selection, may provide new algorithms for more effective treatment of patients. Genetic variation may impact drug response and genetic markers could help selecting the best treatment strategy for the individual patient. AIM......2430561) [OR = 1.66 (1.05-2.63)], IL6 (rs10499563) [OR = 1.65 (1.04-2.63)] and IL1B (rs4848306) [OR = 1.88 (1.05-3.35)] were significantly associated with response among IBD patients using clinical response criteria. A positive predictive value of 0.96 was achieved by combining five genetic markers...... in an explorative analysis. CONCLUSIONS: There are no genetic markers currently available which are adequately predictive of anti-TNF response for use in the clinic. Genetic markers bear the advantage that they do not change over time. Therefore, hypothesis-free approaches, testing a large number of polymorphisms...

  5. A Phylogeny-Based Global Nomenclature System and Automated Annotation Tool for H1 Hemagglutinin Genes from Swine Influenza A Viruses

    Science.gov (United States)

    Macken, Catherine A.; Lewis, Nicola S.; Van Reeth, Kristien; Brown, Ian H.; Swenson, Sabrina L.; Simon, Gaëlle; Saito, Takehiko; Berhane, Yohannes; Ciacci-Zanella, Janice; Pereda, Ariel; Davis, C. Todd; Donis, Ruben O.; Webby, Richard J.

    2016-01-01

    ABSTRACT The H1 subtype of influenza A viruses (IAVs) has been circulating in swine since the 1918 human influenza pandemic. Over time, and aided by further introductions from nonswine hosts, swine H1 viruses have diversified into three genetic lineages. Due to limited global data, these H1 lineages were named based on colloquial context, leading to a proliferation of inconsistent regional naming conventions. In this study, we propose rigorous phylogenetic criteria to establish a globally consistent nomenclature of swine H1 virus hemagglutinin (HA) evolution. These criteria applied to a data set of 7,070 H1 HA sequences led to 28 distinct clades as the basis for the nomenclature. We developed and implemented a web-accessible annotation tool that can assign these biologically informative categories to new sequence data. The annotation tool assigned the combined data set of 7,070 H1 sequences to the correct clade more than 99% of the time. Our analyses indicated that 87% of the swine H1 viruses from 2010 to the present had HAs that belonged to 7 contemporary cocirculating clades. Our nomenclature and web-accessible classification tool provide an accurate method for researchers, diagnosticians, and health officials to assign clade designations to HA sequences. The tool can be updated readily to track evolving nomenclature as new clades emerge, ensuring continued relevance. A common global nomenclature facilitates comparisons of IAVs infecting humans and pigs, within and between regions, and can provide insight into the diversity of swine H1 influenza virus and its impact on vaccine strain selection, diagnostic reagents, and test performance, thereby simplifying communication of such data. IMPORTANCE A fundamental goal in the biological sciences is the definition of groups of organisms based on evolutionary history and the naming of those groups. For influenza A viruses (IAVs) in swine, understanding the hemagglutinin (HA) genetic lineage of a circulating strain aids

  6. The Case for Adopting the “Species Complex” Nomenclature for the Etiologic Agents of Cryptococcosis

    Directory of Open Access Journals (Sweden)

    Kyung J. Kwon-Chung

    2017-01-01

    Full Text Available Cryptococcosis is a potentially lethal disease of humans/animals caused by Cryptococcus neoformans and Cryptococcus gattii. Distinction between the two species is based on phenotypic and genotypic characteristics. Recently, it was proposed that C. neoformans be divided into two species and C. gattii into five species based on a phylogenetic analysis of 115 isolates. While this proposal adds to the knowledge about the genetic diversity and population structure of cryptococcosis agents, the published genotypes of 2,606 strains have already revealed more genetic diversity than is encompassed by seven species. Naming every clade as a separate species at this juncture will lead to continuing nomenclatural instability. In the absence of biological differences between clades and no consensus about how DNA sequence alone can delineate a species, we recommend using “Cryptococcus neoformans species complex” and “C. gattii species complex” as a practical intermediate step, rather than creating more species. This strategy recognizes genetic diversity without creating confusion.

  7. Community Intelligence in Knowledge Curation: An Application to Managing Scientific Nomenclature

    OpenAIRE

    Dai, Lin; Xu, Chao; Tian, Ming; Sang, Jian; Zou, Dong; Li, Ang; Liu, Guocheng; Chen, Fei; Wu, Jiayan; Xiao, Jingfa; Wang, Xumin; Yu, Jun; Zhang, Zhang

    2013-01-01

    Harnessing community intelligence in knowledge curation bears significant promise in dealing with communication and education in the flood of scientific knowledge. As knowledge is accumulated at ever-faster rates, scientific nomenclature, a particular kind of knowledge, is concurrently generated in all kinds of fields. Since nomenclature is a system of terms used to name things in a particular discipline, accurate translation of scientific nomenclature in different languages is of critical im...

  8. Distress in unaffected individuals who decline, delay or remain ineligible for genetic testing for hereditary diseases: a systematic review.

    Science.gov (United States)

    Heiniger, Louise; Butow, Phyllis N; Price, Melanie A; Charles, Margaret

    2013-09-01

    Reviews on the psychosocial aspects of genetic testing for hereditary diseases typically focus on outcomes for carriers and non-carriers of genetic mutations. However, the majority of unaffected individuals from high-risk families do not undergo predictive testing. The aim of this review was to examine studies on psychosocial distress in unaffected individuals who delay, decline or remain ineligible for predictive genetic testing. Systematic searches of Medline, CINAHL, PsychINFO, PubMed and handsearching of related articles published between 1990 and 2012 identified 23 articles reporting 17 different studies that were reviewed and subjected to quality assessment. Findings suggest that definitions of delaying and declining are not always straightforward, and few studies have investigated psychological distress among individuals who remain ineligible for testing. Findings related to distress in delayers and decliners have been mixed, but there is evidence to suggest that cancer-related distress is lower in those who decline genetic counselling and testing, compared with testers, and that those who remain ineligible for testing experience more anxiety than tested individuals. Psychological, personality and family history vulnerability factors were identified for decliners and individuals who are ineligible for testing. The small number of studies and methodological limitations preclude definitive conclusions. Nevertheless, subgroups of those who remain untested appear to be at increased risk for psychological morbidity. As the majority of unaffected individuals do not undergo genetic testing, further research is needed to better understand the psychological impact of being denied the option of testing, declining and delaying testing. Copyright © 2012 John Wiley & Sons, Ltd.

  9. Genetic polymorphisms and their association with the prevalence and severity of chronic postsurgical pain: a systematic review.

    Science.gov (United States)

    Hoofwijk, D M N; van Reij, R R I; Rutten, B P; Kenis, G; Buhre, W F; Joosten, E A

    2016-12-01

    Although several patient characteristic, clinical, and psychological risk factors for chronic postsurgical pain (CPSP) have been identified, genetic variants including single nucleotide polymorphisms have also become of interest as potential risk factors for the development of CPSP. The aim of this review is to summarize the current evidence on genetic polymorphisms associated with the prevalence and severity of CPSP in adult patients. A systematic review of the literature was performed, and additional literature was obtained by reference tracking. The primary outcome was CPSP, defined as pain at least 2 months after the surgery. Studies performed exclusively in animals were excluded. Out of the 1001 identified studies, 14 studies were selected for inclusion. These studies described 5269 participants in 17 cohorts. A meta-analysis was not possible because of heterogeneity of data and data analysis. Associations with the prevalence or severity of CPSP were reported for genetic variants in the COMT gene, OPRM1, potassium channel genes, GCH1, CACNG, CHRNA6, P2X7R, cytokine-associated genes, human leucocyte antigens, DRD2, and ATXN1 CONCLUSIONS: Research on the topic of genetic variants associated with CPSP is still in its initial phase. Hypothesis-free, genome-wide association studies on large cohorts are needed in this field. In addition, future studies may also integrate genetic risk factors and patient characteristic, clinical, and psychological predictors for CPSP. © The Author 2016. Published by Oxford University Press on behalf of the British Journal of Anaesthesia. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Findlay, John M; Middleton, Mark R; Tomlinson, Ian

    2016-01-01

    Barrett's esophagus (BE) is a common and important precursor lesion of esophageal adenocarcinoma (EAC). A third of patients with BE are asymptomatic, and our ability to predict the risk of progression of metaplasia to dysplasia and EAC (and therefore guide management) is limited. There is an urgent need for clinically useful biomarkers of susceptibility to both BE and risk of subsequent progression. This study aims to systematically identify, review, and meta-analyze genetic biomarkers reported to predict both. A systematic review of the PubMed and EMBASE databases was performed in May 2014. Study and evidence quality were appraised using the revised American Society of Clinical Oncology guidelines, and modified Recommendations for Tumor Marker Scores. Meta-analysis was performed for all markers assessed by more than one study. A total of 251 full-text articles were reviewed; 52 were included. A total of 33 germline markers of susceptibility were identified (level of evidence II-III); 17 were included. Five somatic markers of progression were identified; meta-analysis demonstrated significant associations for chromosomal instability (level of evidence II). One somatic marker of progression/relapse following photodynamic therapy was identified. However, a number of failings of methodology and reporting were identified. This is the first systematic review and meta-analysis to evaluate genetic biomarkers of BE susceptibility and risk of progression. While a number of limitations of study quality temper the utility of those markers identified, some-in particular, those identified by genome-wide association studies, and chromosomal instability for progression-appear plausible, although robust validation is required.

  11. Nomenclatural benchmarking: the roles of digital typification and telemicroscopy

    Directory of Open Access Journals (Sweden)

    Quentin Wheeler

    2012-07-01

    Full Text Available Nomenclatural benchmarking is the periodic realignment of species names with species theories and is necessary for the accurate and uniform use of Linnaean binominals in the face of changing species limits. Gaining access to types, often for little more than a cursory examination by an expert, is a major bottleneck in the advance and availability of biodiversity informatics. For the nearly two million described species it has been estimated that five to six million name-bearing type specimens exist, including those for synonymized binominals. Recognizing that examination of types in person will remain necessary in special cases, we propose a four-part strategy for opening access to types that relies heavily on digitization and that would eliminate much of the bottleneck: (1 modify codes of nomenclature to create registries of nomenclatural acts, such as the proposed ZooBank, that include a requirement for digital representations (e-types for all newly described species to avoid adding to backlog; (2 an “r” strategy that would engineer and deploy a network of automated instruments capable of rapidly creating 3-D images of type specimens not requiring participation of taxon experts; (3 a “K” strategy using remotely operable microscopes to engage taxon experts in targeting and annotating informative characters of types to supplement and extend information content of rapidly acquired e-types, a process that can be done on an as-needed basis as in the normal course of revisionary taxonomy; and (4 creation of a global e-type archive associated with the commissions on nomenclature and species registries providing one-stop-shopping for e-types. We describe a first generation implementation of the “K” strategy that adapts current technology to create a network of Remotely Operable Benchmarkers Of Types (ROBOT specifically engineered to handle the largest backlog of types, pinned insect specimens. The three initial instruments will be in the

  12. Human anatomy nomenclature rules for the computer age.

    Science.gov (United States)

    Neumann, Paul E; Baud, Robert; Sprumont, Pierre

    2017-04-01

    Information systems are increasing in importance in biomedical sciences and medical practice. The nomenclature rules of human anatomy were reviewed for adequacy with respect to modern needs. New rules are proposed here to ensure that each Latin term is uniquely associated with an anatomical entity, as short and simple as possible, and machine-interpretable. Observance of these recommendations will also benefit students and translators of the Latin terms into other languages. Clin. Anat. 30:300-302, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  13. Nomenclatural benchmarking: the roles of digital typification and telemicroscopy.

    Science.gov (United States)

    Wheeler, Quentin; Bourgoin, Thierry; Coddington, Jonathan; Gostony, Timothy; Hamilton, Andrew; Larimer, Roy; Polaszek, Andrew; Schauff, Michael; Solis, M Alma

    2012-01-01

    Nomenclatural benchmarking is the periodic realignment of species names with species theories and is necessary for the accurate and uniform use of Linnaean binominals in the face of changing species limits. Gaining access to types, often for little more than a cursory examination by an expert, is a major bottleneck in the advance and availability of biodiversity informatics. For the nearly two million described species it has been estimated that five to six million name-bearing type specimens exist, including those for synonymized binominals. Recognizing that examination of types in person will remain necessary in special cases, we propose a four-part strategy for opening access to types that relies heavily on digitization and that would eliminate much of the bottleneck: (1) modify codes of nomenclature to create registries of nomenclatural acts, such as the proposed ZooBank, that include a requirement for digital representations (e-types) for all newly described species to avoid adding to backlog; (2) an "r" strategy that would engineer and deploy a network of automated instruments capable of rapidly creating 3-D images of type specimens not requiring participation of taxon experts; (3) a "K" strategy using remotely operable microscopes to engage taxon experts in targeting and annotating informative characters of types to supplement and extend information content of rapidly acquired e-types, a process that can be done on an as-needed basis as in the normal course of revisionary taxonomy; and (4) creation of a global e-type archive associated with the commissions on nomenclature and species registries providing one-stop-shopping for e-types. We describe a first generation implementation of the "K" strategy that adapts current technology to create a network of Remotely Operable Benchmarkers Of Types (ROBOT) specifically engineered to handle the largest backlog of types, pinned insect specimens. The three initial instruments will be in the Smithsonian Institution

  14. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

    Science.gov (United States)

    Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

    2010-01-01

    There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

  15. Managing the materials of tomorrow through nomenclature standardization

    International Nuclear Information System (INIS)

    Garstka, R.M.; Kowalchick, D.P.

    1993-01-01

    Virginia Power's nuclear materials management organization has developed a new system to improve material visibility, accessibility, and useability in order to optimize inventory utilization. At a previous American Nuclear Society conference, the completion of the Material Nomenclature Standardization Project and the benefits realized through this effort were reported. This paper reports on new avenues that have been taken and the trials and successes experienced as a by-product of nomenclature standardization. New programs have been established to overcome problems of the past, gain control of inventory growth, and promote stock material utilization. At Virginia Power, the materials management organization is continually challenged to take the next step, strive to set and attain higher goals, and look beyond the status quo for now approaches to improved efficiency. As the standards program came to an end, we saw that our open-quotes first stepclose quotes was a big one. Standardization and computerized sorting solved the inability to retrieve parts without manufacturer's part numbers but also opened up new challenges. Building new systems and processes to make management of the inventory more effective was envisioned as an opportunity

  16. A system of nomenclature for rocks in Olkiluoto

    International Nuclear Information System (INIS)

    Mattila, J.

    2006-06-01

    Due to international interest in the Finnish deep repository project at Olkiluoto (SW Finland) and the need for collaboration between scientists involved in site investigations for the disposal of spent nuclear fuel in other countries, a well-documented system of rock nomenclature is required, based on existing classification schemes and international recommendations. The BGS (British Geological Survey) rock classification scheme is the most comprehensive rock classification scheme and the basic principles behind it are utilised for the system of nomenclature for rocks in Olkiluoto. The BGS classification system is based on the use of descriptive names and a clear hierarchy, making it possible to classify rocks at different levels depending on the specific goals of the study, the level of available information, and the expertise of the user. Each rock type is assigned a root name, which is based on structural and textural characteristics or modal compositions of the rock and the root names are refined with qualifier terms as prefixes. Qualifier terms refer to the structure or modal composition of the rock. The bedrock at the Olkiluoto site consists of metamorphic and igneous rocks. The metamorphic rocks consist of migmatitic gneisses and (non-migmatitic) gneisses, which are further divided according to their structural characteristics and modal compositions, the former into stromatic, veined, diatexitic gneisses, the latter into mica, quartz, mafic and TGG gneisses. Igneous rocks consist of pegmatitic granites, K-feldspar porphyry and diabases. (orig.)

  17. A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes

    NARCIS (Netherlands)

    Harakalova, Magdalena; Kummeling, GJM; Sammani, Arjan; Linschoten, Marijke; Baas, AF; van der Smagt, Jasper; Doevendans, Pieter A.; van Tintelen, J. Peter; Dooijes, Dennis; Mokry, Michal; Asselbergs, Folkert W.

    AimsDespite considerable progress being made in genetic diagnostics for dilated cardiomyopathy (DCM) using panels of the most prevalent genes, the cause remains unsolved in a substantial percentage of patients. We hypothesize that several previously described DCM genes with low or unknown prevalence

  18. A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes

    NARCIS (Netherlands)

    Harakalova, Magdalena; Kummeling, Gijs; Sammani, Arjan; Linschoten, Marijke; Baas, Annette F.; van der Smagt, Jasper; Doevendans, Pieter A.; van Tintelen, J. Peter; Dooijes, Dennis; Mokry, Michal; Asselbergs, Folkert W.

    2015-01-01

    Despite considerable progress being made in genetic diagnostics for dilated cardiomyopathy (DCM) using panels of the most prevalent genes, the cause remains unsolved in a substantial percentage of patients. We hypothesize that several previously described DCM genes with low or unknown prevalence

  19. Why increased nuchal translucency is associated with congenital heart disease: a systematic review on genetic mechanisms

    NARCIS (Netherlands)

    Burger, N.B.; Bekker, M.N.; Groot, C.J. de; Christoffels, V.M.; Haak, M.C.

    2015-01-01

    This overview provides insight into the underlying genetic mechanism of the high incidence of cardiac defects in fetuses with increased nuchal translucency (NT). Nuchal edema, the morphological equivalent of increased NT, is likely to result from abnormal lymphatic development and is strongly

  20. What are the socio-economic impacts of genetically modified crops worldwide? A systematic map protocol

    NARCIS (Netherlands)

    Garcia-Yi, J.; Lapikanonth, T.; Vionita, H.; Vu, H.; Yang, S.; Zhong, Y.; Li, Y.; Nagelschneider, V.; Schlindwein, B.; Wesseler, J.H.H.

    2014-01-01

    Genetically modified (GM) crops have generated a great deal of controversy. Since commercially introduced to farmers in 1996, the global area cultivated with GM crops has increased 94-fold. The rapid adoption of GM technology has had substantial socio-economic impacts which a vast amount of

  1. A Systematic Review on Confidentiality, Disclosure, and Stigma in the United States: Lessons for HIV Care in Pregnancy From Reproductive Genetics.

    Science.gov (United States)

    Wilkinson, Barbara; Arora, Kavita Shah

    2015-01-01

    The fields of HIV care in pregnancy and reproductive genetics have always been 'exceptional' in that patients are highly concerned about the potential for stigma and the corresponding need for privacy and confidentiality. However, the two fields have diverged in how they have addressed these concerns. The systematic review analyzed 61 manuscripts for similarities and differences between the fields of HIV care in pregnancy and reproductive genetics in the United States, with respect to privacy, confidentiality, disclosure, and stigma. The systematic review revealed that the field of HIV care in pregnancy has insufficiently addressed patient concerns about privacy, confidentiality, and stigma compared to the field of reproductive genetics. Failure to adequately protect confidentiality of HIV-positive patients, and failure to reduce stigma associated with HIV testing and treatment are deficiencies in the delivery of care to HIV-positive pregnant woman and barriers to reducing vertical transmission of HIV. Improvements in care and policy should mirror the field of reproductive genetics.

  2. 78 FR 15956 - Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation...

    Science.gov (United States)

    2013-03-13

    ...] Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation; Availability...) is announcing the availability of a guidance for industry entitled ``Tablet Scoring: Nomenclature... evaluating and labeling tablets that have been scored. (A scoring feature facilitates tablet splitting, which...

  3. A primer on polymer nomenclature: Structure-based, sourced-based and trade names

    Science.gov (United States)

    Polymer nomenclature is important because it is part of the language of polymer science and is needed for polymer identification, reference, and documentation. A primer on polymer nomenclature is provided herein for people new to the field or for instructional use. Both structure-based and source-...

  4. A Need for Logical and Consistent Anatomical Nomenclature for Cutaneous Nerves of the Limbs

    Science.gov (United States)

    Gest, Thomas R.; Burkel, William E.; Cortright, Gerald W.

    2009-01-01

    The system of anatomical nomenclature needs to be logical and consistent. However, variations in translation to English of the Latin and Greek terminology used in Nomina Anatomica and Terminologia Anatomica have led to some inconsistency in the nomenclature of cutaneous nerves in the limbs. An historical review of cutaneous nerve nomenclature…

  5. The current status of cyanobacterial nomenclature under the "prokaryotic" and the "botanical" code.

    Science.gov (United States)

    Oren, Aharon; Ventura, Stefano

    2017-10-01

    Cyanobacterial taxonomy developed in the botanical world because Cyanobacteria/Cyanophyta have traditionally been identified as algae. However, they possess a prokaryotic cell structure, and phylogenetically they belong to the Bacteria. This caused nomenclature problems as the provisions of the International Code of Nomenclature for algae, fungi, and plants (ICN; the "Botanical Code") differ from those of the International Code of Nomenclature of Prokaryotes (ICNP; the "Prokaryotic Code"). While the ICN recognises names validly published under the ICNP, Article 45(1) of the ICN has not yet been reciprocated in the ICNP. Different solutions have been proposed to solve the current problems. In 2012 a Special Committee on the harmonisation of the nomenclature of Cyanobacteria was appointed, but its activity has been minimal. Two opposing proposals to regulate cyanobacterial nomenclature were recently submitted, one calling for deletion of the cyanobacteria from the groups of organisms whose nomenclature is regulated by the ICNP, the second to consistently apply the rules of the ICNP to all cyanobacteria. Following a general overview of the current status of cyanobacterial nomenclature under the two codes we present five case studies of genera for which nomenclatural aspects have been discussed in recent years: Microcystis, Planktothrix, Halothece, Gloeobacter and Nostoc.

  6. Genetics of PCOS: A systematic bioinformatics approach to unveil the proteins responsible for PCOS

    OpenAIRE

    Panda, Pritam Kumar; Rane, Riya; Ravichandran, Rahul; Singh, Shrinkhla; Panchal, Hetalkumar

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a hormonal imbalance in women, which causes problems during menstrual cycle and in pregnancy that sometimes results in fatality. Though the genetics of PCOS is not fully understood, early diagnosis and treatment can prevent long-term effects. In this study, we have studied the proteins involved in PCOS and the structural aspects of the proteins that are taken into consideration using computational tools. The proteins involved are modeled using Modeller 9v14...

  7. The genetic and environmental influences on childhood obesity: a systematic review of twin and adoption studies

    DEFF Research Database (Denmark)

    Silventoinen, K; Rokholm, B; Kaprio, J

    2010-01-01

    a substantial effect in mid-childhood, but this effect disappeared at adolescence. Adoption studies supported the role of family environment in childhood obesity as correlations were found between adoptees and adoptive parents; however, correlations were substantially stronger between parents......In this systematic review, we aimed to collect together all previous twin and adoption studies on childhood and adolescent obesity up to the age of 18 years. Using several sources, we identified nine twin and five adoption studies; all of these studies had used relative weight as an indicator...

  8. Genetic and familial predisposition to rotator cuff disease: a systematic review.

    Science.gov (United States)

    Dabija, Dominique I; Gao, Chan; Edwards, Todd L; Kuhn, John E; Jain, Nitin B

    2017-06-01

    Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria. Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1. Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Copyright © 2016 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  9. Introduction to the Arizona Sky Island Arthropod Project (ASAP): Systematics, biogeography, ecology, and population genetics of arthropods of the Madrean Sky Islands

    Science.gov (United States)

    Wendy Moore; Wallace M. Meyer; Jeffrey A. Eble; Kimberly Franklin; John F. Wiens; Richard C. Brusca

    2013-01-01

    The Arizona Sky Island Arthropod Project (ASAP) is a new multi-disciplinary research program at the University of Arizona that combines systematics, biogeography, ecology, and population genetics to study origins and patterns of arthropod diversity along elevation gradients and among mountain ranges in the Madrean Sky Island Region. Arthropods represent taxonomically...

  10. Notes on taxonomy and nomenclature of plants, III

    Directory of Open Access Journals (Sweden)

    de Bolòs, Oriol

    1988-01-01

    Full Text Available Nomenclatural and taxonomic notes on plants of the preparing " Flora dels Països Catalans". This text follows the published ones in the Butll. Inst. Catalana Hist. Nat. 38: 63-89 (1984 and in Collect. Bol. (Barcelona 11: 25-89 (1979 & 14: 89-103 (1983.

    Notas nomenclaturales y taxonómicas referentes a plantas de la "Flora dels Països Catalans" en preparación. Este texto es continuación de los que han aparecido en el Butll. Inst. Catalana Hist. Nat. 38: 63-89 (1984 y en Collect. Bot. (Barcelona 11: 25-89 (1979 y 14: 89-103 (1983.

  11. Potential Ambiguity Translation Performances within Legal Language Institutional Nomenclature

    Directory of Open Access Journals (Sweden)

    Oţăt Diana

    2015-12-01

    Full Text Available Motivated by a paradoxical corollary of ambiguities in legal documents and especially in contract texts, the current paper underpins a dichotomy approach to unintended ambiguities aiming to establish a referential framework for the occurrence rate of translation ambiguities within the legal language nomenclature. The research focus is on a twofold situation since ambiguities may. on the one hand, arise dining the translation process, generated by the translator’s lack of competence, i.e. inadequate use of English regarding the special nature of legal language, or. on the other hand, they may be simply transferred from the source language into the target language without even noticing the potential ambiguous situation, i.e. culture-bound ambiguities. Hence, the paper proposes a contrastive analysis in order to localize the occurrence of lexical, structural, and socio-cultural ambiguities triggered by the use of the term performance and its Romanian equivalents in a number of sales contracts.

  12. Foreign Language Translation of Chemical Nomenclature by Computer

    Science.gov (United States)

    2009-01-01

    Chemical compound names remain the primary method for conveying molecular structures between chemists and researchers. In research articles, patents, chemical catalogues, government legislation, and textbooks, the use of IUPAC and traditional compound names is universal, despite efforts to introduce more machine-friendly representations such as identifiers and line notations. Fortunately, advances in computing power now allow chemical names to be parsed and generated (read and written) with almost the same ease as conventional connection tables. A significant complication, however, is that although the vast majority of chemistry uses English nomenclature, a significant fraction is in other languages. This complicates the task of filing and analyzing chemical patents, purchasing from compound vendors, and text mining research articles or Web pages. We describe some issues with manipulating chemical names in various languages, including British, American, German, Japanese, Chinese, Spanish, Swedish, Polish, and Hungarian, and describe the current state-of-the-art in software tools to simplify the process. PMID:19239237

  13. Phylogeny, identification and nomenclature of the genus Aspergillus

    DEFF Research Database (Denmark)

    Samson, R.A.; Visagie, C.M.; Houbraken, J.

    2014-01-01

    , meaning that a decision had to be made whether to keep Aspergillus as one big genus or to split it into several smaller genera. The International Commission of Penicillium and Aspergillus decided to keep Aspergillus instead of using smaller genera. In this paper, we present the arguments for this decision...... data suggest that together with genera such as Polypaecilum, Phialosimplex, Dichotomomyces and Cristaspora, Aspergillus forms a monophyletic clade closely related to Penicillium. Changes in the International Code of Nomenclature for algae, fungi and plants resulted in the move to one name per species....... We introduce new combinations for accepted species presently lacking an Aspergillus name and provide an updated accepted species list for the genus, now containing 339 species. To add to the scientific value of the list, we include information about living ex-type culture collection numbers and Gen...

  14. Proposed revised nomenclature for transfusion-related acute lung injury.

    Science.gov (United States)

    Toy, Pearl; Kleinman, Steven H; Looney, Mark R

    2017-03-01

    A decade ago, definitions of "transfusionߚrelated acute lung injury (TRALI)" and "possible TRALI" were standardized for research and clinical diagnosis. Since then, evidence has confirmed that TRALI is often due to transfusion of white blood cell antibodies to at-risk patients, and the term "TRALI, antibody mediated" is appropriate for such cases. Other TRALI cases are non-antibody mediated. Because specific, nonantibody transfusion factors have not yet been confirmed to cause TRALI in humans, the general term "TRALI, non-antibody mediated" is appropriate for such cases. In contrast, evidence is against possible TRALI being due to transfusion with the more likely cause of the acute respiratory distress syndrome (ARDS) being the alternative ARDS risk factor present in these patients. We propose to drop the misleading term "possible TRALI" and to rename this category of cases as "transfused ARDS." These nomenclature updates will more accurately categorize ARDS cases that develop after transfusion. © 2016 AABB.

  15. Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Dong Kyu Jin

    2011-02-01

    Full Text Available Prader-Willi syndrome (PWS is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11&#8211;q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2&#8211;q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

  16. A systematic review of genetic diversity of human rotavirus circulating in South Korea.

    Science.gov (United States)

    Than, Van Thai; Jeong, Sunyoung; Kim, Wonyong

    2014-12-01

    Rotavirus infections continue to be the leading cause of severe diarrhea in young Korean children. Rotavirus data acquired from uninterrupted surveillance studies between 1989 and 2009 in South Korea were analyzed to better understand the genetic diversity and evolution. The relationship between rotaviruses and the currently licensed rotavirus vaccine viruses was also examined. The most prevalent rotavirus strains, with genotype G1P[8], followed by G3P[8], G4P[6], and G2P[4], accounted for approximately 76.7% of the total identified strains, and more recently, rotavirus G9P[8] has significance increased to be the fifth most common genotype. Phylogenetic analyses underscored the heterogeneity between viral populations within each genotype, with different lineages and sub-lineages. Although the currently licensed rotavirus vaccines are effective, safe, and economical, additional data from rotavirus monitoring is necessary to evaluate the efficacy of these vaccines for their sustained use in South Korea. The present study provides comprehensive and up-to-date information regarding the epidemiology, genetic diversity, and evolution of the circulating rotaviruses in South Korea. Crown Copyright © 2014. Published by Elsevier B.V. All rights reserved.

  17. 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

  18. 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...

  19. A consistent nomenclature of antimicrobial peptides isolated from frogs of the subfamily Phyllomedusinae.

    Science.gov (United States)

    Amiche, Mohamed; Ladram, Ali; Nicolas, Pierre

    2008-11-01

    A growing number of cationic antimicrobial peptides have been isolated from the skin of hylid frogs belonging to the Phyllomedusinae subfamily. The amino acid sequences of these peptides are currently located in several databases under identifiers with no consistent system of nomenclature to describe them. In order to provide a workable terminology for antimicrobial peptides from Phyllomedusid frogs, we have made a systematic effort to collect, analyze, and classify all the Phyllomedusid peptide sequences available in databases. We propose that frogs belonging to the Phyllomedusinae subfamily should be described by the species names set out in Amphibian Species of the World: http://research.amnh.org/herpetology/amphibia/index.php, American Museum of Natural History, New York, USA. Multiple alignments analysis of at least 80 antimicrobial peptides isolated from 12 Phyllomedusinae species were distributed in seven distinct peptide families including dermaseptin, phylloseptin, plasticin, dermatoxin, phylloxin, hyposin and orphan peptides, and will be considered as the name of the headgroup of each family. The parent peptide's name should be followed by the first upper letter of the species for orthologous peptides and publication date determines priority. For example, the abbreviation B for bicolor and H for hypochondrialis. When two species begin with the same letter, two letters in upper case should be used (the first letter followed by the second or the third letter and so on). For example, the abbreviation DI for distincta, DU for duellmani, VA for vaillanti and VN for vanzolinii. Paralogous peptides should bear letter(s) in upper case followed by numbers.

  20. Rufus of Ephesus and his contribution to the development of anatomical nomenclature.

    Science.gov (United States)

    Bujalkova, Maria

    2011-01-01

    Rufus of Ephesus, a famous ancient physician, lived about the years 80 - 150 CE. His theories stressed the importance of anatomy and he preferred pragmatic approach to diagnosis and treatment. In his work "On the Names of the Parts of the Human Body", he put in pragmatic effort to make a lexicon of anatomy for his pupils. In the introduction, he described it as a manual for the students of medical art which relied on demonstration in teaching; visible (outer) parts of the body were shown on a demonstrator and invisible (inner) parts were shown on a dissected monkey. The brief explanation of the anatomical terms includes position, shape, and functions of organs, and this is what makes his work a pioneering effort to explain the anatomy clearly, systematically, and using consistent terminology. Rufus stressed the importance of exact nomenclature to prevent misunderstandings in medical practice. This anatomy manual had a major influence on the development of anatomical terminology. It is an important contribution to the history of teaching. The other essential contribution of Rufus' lexicon (also known for its briefer title Onomastikon) is that the author recognised and critically reviewed the knowledge and views of his predecessors, physicians of the pre-Galenic period. No less important was his teaching to anatomists and physicians who followed, as they often cited or paraphrased Rufus in their own works (Galen, Oribasius). Many fragments of Rufus' work have been preserved by medieval Arabic medical writers, especially by Rhazes.

  1. Spoligotyping based genetic diversity of Mycobacterium tuberculosis in Ethiopia: a systematic review.

    Science.gov (United States)

    Tulu, Begna; Ameni, Gobena

    2018-03-27

    Understanding the types of strains and lineages of Mycobacterium tuberculosis (M. tuberculosis) circulating in a country is of paramount importance for tuberculosis (TB) control program of that country. The main aim of this study was to review and compile the results of studies conducted on strains and lineages of M. tuberculosis in Ethiopia. A systematic search and review of articles published on M. tuberculosis strains and lineages in Ethiopia were made. PubMed and Google Scholar databases were considered for the search while the keywords used were M. tuberculosis, molecular epidemiology, molecular typing spoligotyping and Ethiopia. Twenty-one studies were considered in this review and a total of 3071 M. tuberculosis isolates and 3067 strains were included. These studies used spoligotyping and identified five lineages including Indo-Ocean, East Asian/Beijing, East African-Indian, Euro-American and Ethiopian in a proportion of 7.1%, 0.2%, 23.0%, 64.8%, and 4.1%, respectively. Thus, Euro-American was the most frequently (64.8%) occurring Lineage while East Asian was the least (0.2%) frequently occurring Lineage in the country. Surprisingly, the Ethiopian Lineage seemed to be localized to northeastern Ethiopia. In addition, the top five clades identified by this review were T, CAS, H, Manu and Ethiopian comprising of 48.0%, 23.0%, 11.0%, 6.0% and 4.1% of the strains, respectively. Furthermore, predominant shared types (spoligotype patterns) identified were SIT149, SIT53, SIT25, SIT37, and SIT21, each consisting of 420, 343, 266, 162 and 102 isolates, respectively, while, on the other hand, 15% of the strains were orphan. According to the summary of the results of this review, diversified strains and lineages of M. tuberculosis were found in Ethiopia, and the frequencies of occurrence of these strains and lineages were variable in different regions of the country. This systematic review is registered in the PRISMA with the registration number of 42017059263.

  2. The analytical calibration in (bio)imaging/mapping of the metallic elements in biological samples--definitions, nomenclature and strategies: state of the art.

    Science.gov (United States)

    Jurowski, Kamil; Buszewski, Bogusław; Piekoszewski, Wojciech

    2015-01-01

    Nowadays, studies related to the distribution of metallic elements in biological samples are one of the most important issues. There are many articles dedicated to specific analytical atomic spectrometry techniques used for mapping/(bio)imaging the metallic elements in various kinds of biological samples. However, in such literature, there is a lack of articles dedicated to reviewing calibration strategies, and their problems, nomenclature, definitions, ways and methods used to obtain quantitative distribution maps. The aim of this article was to characterize the analytical calibration in the (bio)imaging/mapping of the metallic elements in biological samples including (1) nomenclature; (2) definitions, and (3) selected and sophisticated, examples of calibration strategies with analytical calibration procedures applied in the different analytical methods currently used to study an element's distribution in biological samples/materials such as LA ICP-MS, SIMS, EDS, XRF and others. The main emphasis was placed on the procedures and methodology of the analytical calibration strategy. Additionally, the aim of this work is to systematize the nomenclature for the calibration terms: analytical calibration, analytical calibration method, analytical calibration procedure and analytical calibration strategy. The authors also want to popularize the division of calibration methods that are different than those hitherto used. This article is the first work in literature that refers to and emphasizes many different and complex aspects of analytical calibration problems in studies related to (bio)imaging/mapping metallic elements in different kinds of biological samples. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. Ethics, genetics and dynamics: an emerging systematic approach to radiation protection of the environment

    International Nuclear Information System (INIS)

    Pentreath, R.J.

    2004-01-01

    There is now a general consensus of opinion that an explicit approach is necessary to demonstrate radiation protection of the environment, and that this approach needs to be developed in a systematic way. The framework that is emerging links ethical and moral issues (anthropocentric, biocentric, and ecocentric) to broad-based principles and objectives of environmental protection (sustainable development, maintaining biological diversity, and habitat protection) and then links these, in turn, to the needs of current environmental management practices, such as environmental exploitation, pollution control, and nature conservation. The relevance of this to radiation is that its effects (such as causing early mortality, morbidity, reduced reproductive success, as well as resulting in observable (scorable) cytogenetic damage) are those that may have a bearing on these same environmental management practices. The devise that would appear to be most useful to bridge the gap between our disparate data on radiation effects and the needs of environmental management, is that of adding to the concept of Reference Man in the shape of a small set of Reference Animals and Plants. This approach has now been adopted by the ICRP, adding new dynamics--the motive forces, both moral and physical--to the subject. The way is now clear for rapid progress to be made on a number of fronts

  4. Proposal to change General Consideration 5 and Principle 2 of the International Code of Nomenclature of Prokaryotes.

    Science.gov (United States)

    Oren, Aharon; Garrity, George M

    2014-01-01

    A proposal is submitted to the ICSP to change the wording of General Consideration 5 of the International Code of Nomenclature of Prokaryotes (ICNP), deleting the words Schizophycetes, Cyanophyceae and Cyanobacteria from the groups of organisms whose nomenclature is covered by the Code. It is further proposed to change the terms Zoological Code and International Code of Botanical Nomenclature in General Consideration 5 and in Principle 2 to International Code of Zoological Nomenclature and International Code of Nomenclature for algae, fungi and plants, respectively.

  5. Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

    Science.gov (United States)

    Simons, A; Shaffer, L G; Hastings, R J

    2013-01-01

    The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009. These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports.

  6. Genetics of PCOS: A systematic bioinformatics approach to unveil the proteins responsible for PCOS.

    Science.gov (United States)

    Panda, Pritam Kumar; Rane, Riya; Ravichandran, Rahul; Singh, Shrinkhla; Panchal, Hetalkumar

    2016-06-01

    Polycystic ovary syndrome (PCOS) is a hormonal imbalance in women, which causes problems during menstrual cycle and in pregnancy that sometimes results in fatality. Though the genetics of PCOS is not fully understood, early diagnosis and treatment can prevent long-term effects. In this study, we have studied the proteins involved in PCOS and the structural aspects of the proteins that are taken into consideration using computational tools. The proteins involved are modeled using Modeller 9v14 and Ab-initio programs. All the 43 proteins responsible for PCOS were subjected to phylogenetic analysis to identify the relatedness of the proteins. Further, microarray data analysis of PCOS datasets was analyzed that was downloaded from GEO datasets to find the significant protein-coding genes responsible for PCOS, which is an addition to the reported protein-coding genes. Various statistical analyses were done using R programming to get an insight into the structural aspects of PCOS that can be used as drug targets to treat PCOS and other related reproductive diseases.

  7. Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis.

    Science.gov (United States)

    Dong, Zheng; Zhou, Jingru; Xu, Xia; Jiang, Shuai; Li, Yuan; Zhao, Dongbao; Yang, Chengde; Ma, Yanyun; Wang, Yi; He, Hongjun; Ji, Hengdong; Zhang, Juan; Yuan, Ziyu; Yang, Yajun; Wang, Xiaofeng; Pang, Yafei; Jin, Li; Zou, Hejian; Wang, Jiucun

    2018-03-01

    The aims of this study were to identify candidate pathways associated with serum urate and to explore the genetic effect of those pathways on the risk of gout. Pathway analysis of the loci identified in genome-wide association studies (GWASs) showed that the ion transmembrane transporter activity pathway (GO: 0015075) and the secondary active transmembrane transporter activity pathway (GO: 0015291) were both associated with serum urate concentrations, with P FDR values of 0.004 and 0.007, respectively. In a Chinese population of 4,332 individuals, the two pathways were also found to be associated with serum urate (P FDR  = 1.88E-05 and 3.44E-04, separately). In addition, these two pathways were further associated with the pathogenesis of gout (P FDR  = 1.08E-08 and 2.66E-03, respectively) in the Chinese population and a novel gout-associated gene, SLC17A2, was identified (OR = 0.83, P FDR  = 0.017). The mRNA expression of candidate genes also showed significant differences among different groups at pathway level. The present study identified two transmembrane transporter activity pathways (GO: 0015075 and GO: 0015291) were associations with serum urate concentrations and the risk of gout. SLC17A2 was identified as a novel gene that influenced the risk of gout.

  8. Systematic differences in the response of genetic variation to pedigree and genome-based selection methods.

    Science.gov (United States)

    Heidaritabar, M; Vereijken, A; Muir, W M; Meuwissen, T; Cheng, H; Megens, H-J; Groenen, M A M; Bastiaansen, J W M

    2014-12-01

    Genomic selection (GS) is a DNA-based method of selecting for quantitative traits in animal and plant breeding, and offers a potentially superior alternative to traditional breeding methods that rely on pedigree and phenotype information. Using a 60 K SNP chip with markers spaced throughout the entire chicken genome, we compared the impact of GS and traditional BLUP (best linear unbiased prediction) selection methods applied side-by-side in three different lines of egg-laying chickens. Differences were demonstrated between methods, both at the level and genomic distribution of allele frequency changes. In all three lines, the average allele frequency changes were larger with GS, 0.056 0.064 and 0.066, compared with BLUP, 0.044, 0.045 and 0.036 for lines B1, B2 and W1, respectively. With BLUP, 35 selected regions (empirical P selected regions were identified. Empirical thresholds for local allele frequency changes were determined from gene dropping, and differed considerably between GS (0.167-0.198) and BLUP (0.105-0.126). Between lines, the genomic regions with large changes in allele frequencies showed limited overlap. Our results show that GS applies selection pressure much more locally than BLUP, resulting in larger allele frequency changes. With these results, novel insights into the nature of selection on quantitative traits have been gained and important questions regarding the long-term impact of GS are raised. The rapid changes to a part of the genetic architecture, while another part may not be selected, at least in the short term, require careful consideration, especially when selection occurs before phenotypes are observed.

  9. Fungal Systematics and Evolution: FUSE 1

    NARCIS (Netherlands)

    Crous, Pedro W; Schumacher, René K; Wingfield, Michael J; Lombard, Lorenzo; Giraldo, Alejandra; Christensen, Martha; Gardiennet, Alain; Nakashima, Chiharu; Pereira, Olinto L; Smith, Alexander J; Groenewald, Johannes Z

    2015-01-01

    Fungal Systematics and Evolution (FUSE) is introduced as a new series to expedite the publication of issues relating to the epitypification of formerly described species, report new sexual-asexual connections, the merging of sexual and asexual gen¬era following the end of dual nomenclature, and to

  10. Genetic variants as ovarian cancer first-line treatment hallmarks: A systematic review and meta-analysis.

    Science.gov (United States)

    Assis, Joana; Pereira, Carina; Nogueira, Augusto; Pereira, Deolinda; Carreira, Rafael; Medeiros, Rui

    2017-12-01

    The potential predictive value of genetic polymorphisms in ovarian cancer first-line treatment is inconsistently reported. We aimed to review ovarian cancer pharmacogenetic studies to update and summarize the available data and to provide directions for further research. A systematic review followed by a meta-analysis was conducted on cohort studies assessing the involvement of genetic polymorphisms in ovarian cancer first-line treatment response retrieved through a MEDLINE database search by November 2016. Studies were pooled and summary estimates and 95% confidence intervals (CI) were calculated using random or fixed-effects models as appropriate. One hundred and forty-two studies gathering 106871 patients were included. Combined data suggested that GSTM1-null genotype patients have a lower risk of death compared to GSTM1-wt carriers, specifically in advanced stages (hazard ratio (HR), 0.68; 95% CI, 0.48-0.97) and when submitted to platinum-based chemotherapy (aHR, 0.61; 95% CI, 0.39-0.94). ERCC1 rs11615 and rs3212886 might have also a significant impact in treatment outcome (aHR, 0.67; 95% CI, 0.51-0.89; aHR, 1.28; 95% CI, 1.01-1.63, respectively). Moreover, ERCC2 rs13181 and rs1799793 showed a distinct ethnic behavior (Asians: aHR, 1.41; 95% CI, 0.80-2.49; aHR, 1.07; 95% CI, 0.62-1.86; Caucasians: aHR, 0.10; 95% CI, 0.01-0.96; aHR, 0.18; 95% CI, 0.05-0.68, respectively). The definition of integrative predictive models should encompass genetic information, especially regarding GSTM1 homozygous deletion. Justifying additional pharmacogenetic investigation are variants in ERCC1 and ERCC2, which highlight the DNA Repair ability to ovarian cancer prognosis. Further knowledge could aid to understand platinum-treatment failure and to tailor chemotherapy strategies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Inferring 'weak spots' in phylogenetic trees: application to mosasauroid nomenclature.

    Science.gov (United States)

    Madzia, Daniel; Cau, Andrea

    2017-01-01

    Mosasauroid squamates represented the apex predators within the Late Cretaceous marine and occasionally also freshwater ecosystems. Proper understanding of the origin of their ecological adaptations or paleobiogeographic dispersals requires adequate knowledge of their phylogeny. The studies assessing the position of mosasauroids on the squamate evolutionary tree and their origins have long given conflicting results. The phylogenetic relationships within Mosasauroidea, however, have experienced only little changes throughout the last decades. Considering the substantial improvements in the development of phylogenetic methodology that have undergone in recent years, resulting, among others, in numerous alterations in the phylogenetic hypotheses of other fossil amniotes, we test the robustness in our understanding of mosasauroid beginnings and their evolutionary history. We re-examined a data set that results from modifications assembled in the course of the last 20 years and performed multiple parsimony analyses and Bayesian tip-dating analysis. Following the inferred topologies and the 'weak spots' in the phylogeny of mosasauroids, we revise the nomenclature of the 'traditionally' recognized mosasauroid clades, to acknowledge the overall weakness among branches and the alternative topologies suggested previously, and discuss several factors that might have an impact on the differing phylogenetic hypotheses and their statistical support.

  12. Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies.

    Science.gov (United States)

    Fett, Nicole

    2013-01-01

    Scleroderma refers to a heterogeneous group of autoimmune fibrosing disorders. The nomenclature of scleroderma has changed dramatically in recent years, with morphea (localized scleroderma), limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis, and systemic sclerosis sine scleroderma encompassing the currently accepted disease subtypes. Major advances have been made in the molecular studies of morphea and systemic sclerosis; however, their etiologies and pathogenesis remain incompletely understood. Although morphea and systemic sclerosis demonstrate activation of similar inflammatory and fibrotic pathways, important differences in signaling pathways and gene signatures indicate they are likely biologically distinct processes. Morphea can cause significant morbidity but does not affect mortality, whereas systemic sclerosis has the highest disease-specific mortality of all autoimmune connective tissue diseases. Treatment recommendations for morphea and systemic sclerosis are based on limited data and largely expert opinions. Current collaborative efforts in morphea and systemic sclerosis research will hopefully lead to better understanding of the etiology and pathogenesis of these rare and varied diseases and improved treatment options. Published by Elsevier Inc.

  13. Phylogeny, identification and nomenclature of the genus Aspergillus

    Science.gov (United States)

    Samson, R.A.; Visagie, C.M.; Houbraken, J.; Hong, S.-B.; Hubka, V.; Klaassen, C.H.W.; Perrone, G.; Seifert, K.A.; Susca, A.; Tanney, J.B.; Varga, J.; Kocsubé, S.; Szigeti, G.; Yaguchi, T.; Frisvad, J.C.

    2014-01-01

    Aspergillus comprises a diverse group of species based on morphological, physiological and phylogenetic characters, which significantly impact biotechnology, food production, indoor environments and human health. Aspergillus was traditionally associated with nine teleomorph genera, but phylogenetic data suggest that together with genera such as Polypaecilum, Phialosimplex, Dichotomomyces and Cristaspora, Aspergillus forms a monophyletic clade closely related to Penicillium. Changes in the International Code of Nomenclature for algae, fungi and plants resulted in the move to one name per species, meaning that a decision had to be made whether to keep Aspergillus as one big genus or to split it into several smaller genera. The International Commission of Penicillium and Aspergillus decided to keep Aspergillus instead of using smaller genera. In this paper, we present the arguments for this decision. We introduce new combinations for accepted species presently lacking an Aspergillus name and provide an updated accepted species list for the genus, now containing 339 species. To add to the scientific value of the list, we include information about living ex-type culture collection numbers and GenBank accession numbers for available representative ITS, calmodulin, β-tubulin and RPB2 sequences. In addition, we recommend a standard working technique for Aspergillus and propose calmodulin as a secondary identification marker. PMID:25492982

  14. Words matter: Recommendations for clarifying coral disease nomenclature and terminology

    Science.gov (United States)

    Rogers, Caroline S.

    2010-01-01

    Coral diseases have caused significant losses on Caribbean reefs and are becoming a greater concern in the Pacific. Progress in coral disease research requires collaboration and communication among experts from many different disciplines. The lack of consistency in the use of terms and names in the recent scientific literature reflects the absence of an authority for naming coral diseases, a lack of consensus on the meaning of even some of the most basic terms as they apply to corals, and imprecision in the use of descriptive words. The lack of consensus partly reflects the complexity of this newly emerging field of research. Establishment of a nomenclature committee under the Coral Disease and Health Consortium (CDHC) could lead to more standardized definitions and could promote use of appropriate medical terminology for describing and communicating disease conditions in corals. This committee could also help to define disease terminology unique to corals where existing medical terminology is not applicable. These efforts will help scientists communicate with one another and with the general public more effectively. Scientists can immediately begin to reduce some of the confusion simply by explicitly defining the words they are using. In addition, digital photographs can be posted on the CDHC website and included in publications to document the macroscopic (gross) signs of the conditions observed on coral colonies along with precisely written characterizations and descriptions.

  15. Standardized nomenclatures: keys to continuity of care, nursing accountability and nursing effectiveness.

    Science.gov (United States)

    Keenan, G; Aquilino, M L

    1998-01-01

    Standardized nursing nomenclatures must be included in clinical documentation systems to generate data that more accurately represent nursing practice than outcomes-related measures currently used to support important policy decisions. NANDA, NIC, and NOC--comprehensive nomenclatures for the needed variables of nursing diagnoses, interventions, and outcomes--are described. Added benefits of using NANDA, NIC, and NOC in everyday practice are outlined, including facilitation of the continuity of care of patients in integrated health systems.

  16. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    DEFF Research Database (Denmark)

    Monk, David; Morales, Joannella; den Dunnen, Johan T

    2018-01-01

    Disorders we have discussed these issues and designed a nomenclature for naming imprinted DMRs as well as for reporting methylation values. We apply these recommendations for imprinted DMRs that are commonly assayed in clinical laboratories and show how they support standardized database submission....... The recommendations are in line with existing recommendations, most importantly the Human Genome Variation Society nomenclature, and should facilitate accurate reporting and data exchange among laboratories and thereby help to avoid future confusion....

  17. Novelties on taxonomy and nomenclature of Spanish vascular hybrids

    Directory of Open Access Journals (Sweden)

    Crespo, Manuel B.

    1990-05-01

    Full Text Available The nomenclature of some Iberian hybrids is revised and several new combinations are proposed: Centaurea X subdecurrens var. segobricensis, C. X subdecurrens notbosubsp. albuferae, Cistus X hybridus nothosubsp. grandiflorus var. secallianus. C. X ledon var. recognitus, C. X nigricans var. longifolius, C. X nigricans nothosubsp. grosii and Onopordum X humile var. turolensis. Besides, a new nothosubspecies: Sideritis x paui nothosubsp. enguerana (S. hirsuta X S. incana subsp. virgata, is described for the mountains of Valencia Province (E of Spain.

    Se revisa la nomenclatura de algunos híbridos vasculares ibéricos, proponiéndose algunas nuevas combinaciones: Centaurea X subdecurrens var. segobricensis, C. X subdecurrens notbosubsp. albuferae, Cistus X hybridus nothosubsp. grandiflorus var. secallianus. C. X ledon var. recognitus, C. X nigricans var. longifolius, C. X nigricans nothosubsp. grosii y Onopordum X humile var. turolensis. Además, se describe una nueva notosubespecie de las montañas de la provincia de Valencia: Sideritis X paui nothosubsp. enguerana (S. hirsuta X S. incana subsp. virgata.

  18. ON THE TAXONOMY AND NOMENCLATURE OF SOME MECININI (COLEOPTERA, CURCULIONIDAE

    Directory of Open Access Journals (Sweden)

    Roberto Caldara

    2008-04-01

    Full Text Available In accordance with the Code, ten actions are taken to preserve nomenclatural stability of names of taxa currently belonging to Mecinini. Following the provisions of ICZN Article 23.9.1, Cleopomiarus graminis (Gyllenhal, 1813 (formerly Rhynchaenus is made a nomen protectum and Curculio ellipticus Herbst, 1795 is made a nomen oblitum; Rhinusa antirrhini (Paykull, 1800 (formerly Curculio is made a nomen protectum and Curculio noctis herbst, 1795 is made a nomen oblitum; having met the conditions of ICZN article 75.3 the neotypes of the following taxa are designated: Curculio antirrhini Paykull, 1800, Curculio cinctus Rossi, 1790, Curculio curvirostris Rossi, 1790, Curculio linariae Panzer, 1792, Cionus thapsicola Germar, 1821, Mecinus collaris Germar, 1821. Lectotypes of Curculio ellipticus Herbst, 1795, Gymnetron eversmanni Rosenschöld, 1838, Mecinus barbarus Gyllenhal, 1838, and Mecinus longiusculus Boheman, 1845 are also designated. Rhinusa linariae (Panzer, 1792 (formerly Curculio remains the valid name of the taxon since Curculio curvirostris Rossi, 1790 (non Fabricius, 1781 nec Herbst, 1784 is unavailable; Mecinus collaris Germar, 1821 remains the valid name of the taxon since Curculio cinctus Rossi, 1790 (non Drury, 1782 nec Geoffroy, 1785 is unavailable. The following new synonymies are proposed: Mecinus barbarus Gyllenhal, 1838 = Mecinus longiusculus Boheman, 1845 n. syn., = Mecinus teretiusculus Boheman, 1845 n. syn., = Mecinus filiformis Aubé, 1850 n. syn.; Rhinusa florum (Rübsaamen, 1895 = Gymnetron smreczynskii Fremuth, 1972 n. syn.; Rhinusa tetra (Fabricius, 1792 = Cionus thapsicola Germar, 1821 n. syn. Rhinusa eversmanni (Rosenschöld, 1838 is the name proposed for Rhinusa thapsicola sensu auctorum (non Germar, 1821.

  19. Attention-deficit hyperactivity disorder in adults: A systematic review and meta-analysis of genetic, pharmacogenetic and biochemical studies

    Science.gov (United States)

    Bonvicini, C; Faraone, S V; Scassellati, C

    2016-01-01

    The adult form of attention-deficit/hyperactivity disorder has a prevalence of up to 5% and is the most severe long-term outcome of this common disorder. Family studies in clinical samples as well as twin studies suggest a familial liability and consequently different genes were investigated in association studies. Pharmacotherapy with methylphenidate (MPH) seems to be the first-line treatment of choice in adults with attention-deficit hyperactive disorder (ADHD) and some studies were conducted on the genes influencing the response to this drug. Finally some peripheral biomarkers were identified in ADHD adult patients. We believe this work is the first systematic review and meta-analysis of candidate gene association studies, pharmacogenetic and biochemical (metabolomics) studies performed in adults with ADHD to identify potential genetic, predictive and peripheral markers linked specifically to ADHD in adults. After screening 5129 records, we selected 87 studies of which 61 were available for candidate gene association studies, 5 for pharmacogenetics and 21 for biochemical studies. Of these, 15 genetic, 2 pharmacogenetic and 6 biochemical studies were included in the meta-analyses. We obtained an association between adult ADHD and the gene BAIAP2 (brain-specific angiogenesis inhibitor 1-associated protein 2), even after Bonferroni correction, with any heterogeneity in effect size and no publication bias. If we did not apply the Bonferroni correction, a trend was found for the carriers allele 9R of dopamine transporter SLC6A3 40 bp variable tandem repeat polymorphism (VNTR) and for 6/6 homozygotes of SLC6A3 30 bp VNTR. Negative results were obtained for the 9-6 haplotype, the dopamine receptor DRD4 48 bp VNTR, and the enzyme COMT SNP rs4680. Concerning pharmacogenetic studies, no association was found for the SLC6A3 40 bp and response to MPH with only two studies selected. For the metabolomics studies, no differences between ADHD adults and controls were

  20. Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry.

    Science.gov (United States)

    Ronquillo, Jay G; Weng, Chunhua; Lester, William T

    2017-11-17

      Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine.   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats.   We performed an exploratory analysis of the National Institutes of Health Genetic Testing Registry.  Relevant standards included Health Level Seven International Version 3 Implementation Guide for Family History, the Human Genome Organization Gene Nomenclature Committee (HGNC) database, and Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT).  We analyzed the distribution of genetic testing laboratories, genetic test characteristics, and standardized genome/clinical code mappings, stratified by laboratory setting. There were a total of 25472 genetic tests from 240 laboratories testing for approximately 3632 distinct genes.  Most tests focused on diagnosis, mutation confirmation, and/or risk assessment of germline mutations that could be passed to offspring.  Genes were successfully mapped to all HGNC identifiers, but less than half of tests mapped to SNOMED CT codes, highlighting significant gaps when linking genetic tests to standardized clinical codes that explain the medical motivations behind test ordering.  Conclusion:  While precision medicine could potentially transform healthcare, successful practical and clinical application will first require the comprehensive and responsible adoption of interoperable standards, terminologies, and formats across all aspects of the precision medicine pipeline.

  1. Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry

    Directory of Open Access Journals (Sweden)

    Jay G Ronquillo

    2017-11-01

    Full Text Available Background:  Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. Objective:  To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats. Methods:  We performed an exploratory analysis of the National Institutes of Health Genetic Testing Registry.  Relevant standards included Health Level Seven International Version 3 Implementation Guide for Family History, the Human Genome Organization Gene Nomenclature Committee (HGNC database, and Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT.  We analyzed the distribution of genetic testing laboratories, genetic test characteristics, and standardized genome/clinical code mappings, stratified by laboratory setting. Results: There were a total of 25472 genetic tests from 240 laboratories testing for approximately 3632 distinct genes.  Most tests focused on diagnosis, mutation confirmation, and/or risk assessment of germline mutations that could be passed to offspring.  Genes were successfully mapped to all HGNC identifiers, but less than half of tests mapped to SNOMED CT codes, highlighting significant gaps when linking genetic tests to standardized clinical codes that explain the medical motivations behind test ordering.   Conclusion:  While precision medicine could potentially transform healthcare, successful practical and clinical application will first require the comprehensive and responsible adoption of interoperable standards, terminologies, and formats across all aspects of the precision medicine pipeline.

  2. The Science and Politics of Naming: Reforming Anatomical Nomenclature, ca. 1886-1955.

    Science.gov (United States)

    Buklijas, Tatjana

    2017-04-01

    Anatomical nomenclature is medicine's official language. Early in their medical studies, students are expected to memorize not only the bodily geography but also the names for all the structures that, by consensus, constitute the anatomical body. The making and uses of visual maps of the body have received considerable historiographical attention, yet the history of production, communication, and reception of anatomical names-a history as long as the history of anatomy itself-has been studied far less. My essay examines the reforms of anatomical naming between the first modern nomenclature, the 1895 Basel Nomina Anatomica (BNA), and the 1955 Nomina Anatomica Parisiensia (NAP, also known as PNA), which is the basis for current anatomical terminology. I focus on the controversial and ultimately failed attempt to reform anatomical nomenclature, known as Jena Nomina Anatomica (INA), of 1935. Discussions around nomenclature reveal not only how anatomical names are made and communicated, but also the relationship of anatomy with the clinic; disciplinary controversies within anatomy; national traditions in science; and the interplay between international and scientific disciplinary politics. I show how the current anatomical nomenclature, a successor to the NAP, is an outcome of both political and disciplinary tensions that reached their peak before 1945. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. A systematic review of the factors associated with interest in predictive genetic testing for obesity, type II diabetes and heart disease.

    Science.gov (United States)

    Collins, J; Ryan, L; Truby, H

    2014-10-01

    In the future, it may be possible for individuals to take a genetic test to determine their genetic predisposition towards developing lifestyle-related chronic diseases. A systematic review of the literature was undertaken to identify the factors associated with an interest in having predictive genetic testing for obesity, type II diabetes and heart disease amongst unaffected adults. Ovid Medline, PsycINFO and EMBASE online databases were searched using predefined search terms. Publications meeting the inclusion criteria (English language, free-living adult population not selected as a result of their disease diagnosis, reporting interest as an outcome, not related to a single gene inherited disease) were assessed for quality and content. Narrative synthesis of the results was undertaken. From the 2329 publications retrieved, eight studies met the inclusion criteria and were included in the review. Overall, the evidence base was small but of positive quality. Interest was associated with personal attitudes towards disease risk and the provision of information about genetic testing, shaped by perceived risk of disease and expected outcomes of testing. The role of demographic factors was investigated with largely inconclusive findings. Interest in predictive genetic testing for obesity, type II diabetes or heart disease was greatest amongst those who perceived the risk of disease to be high and/or the outcomes of testing to be beneficial. © 2013 The British Dietetic Association Ltd.

  4. American Association of Physicists in Medicine Task Group 263: Standardizing Nomenclatures in Radiation Oncology.

    Science.gov (United States)

    Mayo, Charles S; Moran, Jean M; Bosch, Walter; Xiao, Ying; McNutt, Todd; Popple, Richard; Michalski, Jeff; Feng, Mary; Marks, Lawrence B; Fuller, Clifton D; Yorke, Ellen; Palta, Jatinder; Gabriel, Peter E; Molineu, Andrea; Matuszak, Martha M; Covington, Elizabeth; Masi, Kathryn; Richardson, Susan L; Ritter, Timothy; Morgas, Tomasz; Flampouri, Stella; Santanam, Lakshmi; Moore, Joseph A; Purdie, Thomas G; Miller, Robert C; Hurkmans, Coen; Adams, Judy; Jackie Wu, Qing-Rong; Fox, Colleen J; Siochi, Ramon Alfredo; Brown, Norman L; Verbakel, Wilko; Archambault, Yves; Chmura, Steven J; Dekker, Andre L; Eagle, Don G; Fitzgerald, Thomas J; Hong, Theodore; Kapoor, Rishabh; Lansing, Beth; Jolly, Shruti; Napolitano, Mary E; Percy, James; Rose, Mark S; Siddiqui, Salim; Schadt, Christof; Simon, William E; Straube, William L; St James, Sara T; Ulin, Kenneth; Yom, Sue S; Yock, Torunn I

    2018-03-15

    A substantial barrier to the single- and multi-institutional aggregation of data to supporting clinical trials, practice quality improvement efforts, and development of big data analytics resource systems is the lack of standardized nomenclatures for expressing dosimetric data. To address this issue, the American Association of Physicists in Medicine (AAPM) Task Group 263 was charged with providing nomenclature guidelines and values in radiation oncology for use in clinical trials, data-pooling initiatives, population-based studies, and routine clinical care by standardizing: (1) structure names across image processing and treatment planning system platforms; (2) nomenclature for dosimetric data (eg, dose-volume histogram [DVH]-based metrics); (3) templates for clinical trial groups and users of an initial subset of software platforms to facilitate adoption of the standards; (4) formalism for nomenclature schema, which can accommodate the addition of other structures defined in the future. A multisociety, multidisciplinary, multinational group of 57 members representing stake holders ranging from large academic centers to community clinics and vendors was assembled, including physicists, physicians, dosimetrists, and vendors. The stakeholder groups represented in the membership included the AAPM, American Society for Radiation Oncology (ASTRO), NRG Oncology, European Society for Radiation Oncology (ESTRO), Radiation Therapy Oncology Group (RTOG), Children's Oncology Group (COG), Integrating Healthcare Enterprise in Radiation Oncology (IHE-RO), and Digital Imaging and Communications in Medicine working group (DICOM WG); A nomenclature system for target and organ at risk volumes and DVH nomenclature was developed and piloted to demonstrate viability across a range of clinics and within the framework of clinical trials. The final report was approved by AAPM in October 2017. The approval process included review by 8 AAPM committees, with additional review by ASTRO

  5. Finding a rational nomenclature for mesons and baryons

    International Nuclear Information System (INIS)

    Barnett, R.M.; Cahn, R.N.; Gidal, G.

    1985-05-01

    A history of the Particle Data Group's efforts to find a rational and systematic convention for naming mesons and baryons is given. Several versions of our proposal are reviewed, and name changes which would occur are summarized. Some of the mail we have received is described. We hope to stimulate additional feedback

  6. A historical vignette. The imagination and medical nomenclature; Teutonic mythology as a presence in ENT and related fields.

    Science.gov (United States)

    Tainmont, J

    2008-01-01

    The imagination is one of the sources of inspiration for medical nomenclature, as can be seen when nomenclature reflects mythology. In this paper, we consider Teutonic (Scandinavian, Germanic) mythology as it appears in the field of minerals, in the field of hearing and in the field of respiration. As far as hearing is concerned, the author suggests naming "Heimdall's ear" physiological hyperacusis.

  7. The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review.

    Science.gov (United States)

    Lee, Evelyn; Illingworth, Peter; Wilton, Leeanda; Chambers, Georgina Mary

    2015-02-01

    Is preimplantation genetic diagnosis for aneuploidy (PGD-A) with analysis of all chromosomes during assisted reproductive technology (ART) clinically and cost effective? The majority of published studies comparing a strategy of PGD-A with morphologically assessed embryos have reported a higher implantation rate per embryo using PGD-A, but insufficient data has been presented to evaluate the clinical and cost-effectiveness of PGD-A in the clinical setting. Aneuploidy is a leading cause of implantation failure, miscarriage and congenital abnormalities in humans, and a significant cause of ART failure. Preclinical evidence of PGD-A indicates that the selection and transfer of euploid embryos during ART should improve clinical outcomes. A systematic review of the literature was performed for full text English language articles using MEDLINE, EMBASE, SCOPUS, Cochrane Library databases, NHS Economic Evaluation Database and EconLit. The Downs and Black scoring checklist was used to assess the quality of studies. Clinical effectiveness was measured in terms of pregnancy, live birth and miscarriage rates. Nineteen articles meeting the inclusion criteria, comprising three RCTs in young and good prognosis patients and 16 observation studies were identified. Five of the observational studies included a control group of patients where embryos were selected based on morphological criteria (matched cohort studies). Of the five studies that included a control group and reported implantation rates, four studies (including two RCTs) demonstrated improved implantation rates in the PGD-A group. Of the eight studies that included a control group, six studies (including two RCTs) reported significantly higher pregnancy rates in the PGD-A group, and in the remaining two studies, equivalent pregnancies rates were reported despite fewer embryos being transferred in the PGD-A group. The three RCTs demonstrated benefit in young and good prognosis patients in terms of clinical pregnancy rates

  8. Nomenclatural and taxonomic problems related to the electronic publication of new nomina and nomenclatural acts in zoology, with brief comments on optical discs and on the situation in botany.

    Science.gov (United States)

    Dubois, Alain; Crochet, Pierre-André; Dickinson, Edward C; Nemésio, André; Aescht, Erna; Bauer, Aaron M; Blagoderov, Vladimir; Bour, Roger; De Carvalho, Marcelo R; Desutter-Grandcolas, Laure; Frétey, Thierry; Jäger, Peter; Koyamba, Victoire; Lavilla, Esteban O; Löbl, Ivan; Louchart, Antoine; Malécot, Valéry; Schatz, Heinrich; Ohler, Annemarie

    2013-11-11

    In zoological nomenclature, to be potentially valid, nomenclatural novelties (i.e., new nomina and nomenclatural acts) need first to be made available, that is, published in works qualifying as publications as defined by the International Code of zoological Nomenclature ("the Code"). In September 2012, the Code was amended in order to allow the recognition of works electronically published online after 2011 as publications available for the purpose of zoological nomenclature, provided they meet several conditions, notably a preregistration of the work in ZooBank. Despite these new Rules, several of the long-discussed problems concerning the electronic publication of new nomina and nomenclatural acts have not been resolved. The publication of this amendment provides an opportunity to discuss some of these in detail. It is important to note that: (1) all works published only online before 2012 are nomenclaturally unavailable; (2) printed copies of the PDFs of works which do not have their own ISSN or ISBN, and which are not obtainable free of charge or by purchase, do not qualify as publications but must be seen as facsimiles of unavailable works and are unable to provide nomenclatural availability to any nomenclatural novelties they may contain; (3) prepublications online of later released online publications are unavailable, i.e., they do not advance the date of publication; (4) the publication dates of works for which online prepublications had been released are not those of these prepublications and it is critical that the real release date of such works appear on the actual final electronic publication, but this is not currently the case in electronic periodicals that distribute such online prepublications and which still indicate on their websites and PDFs the date of release of prepublication as that of publication of the work; (5) supplementary online materials and subsequent formal corrections of either paper or electronic publications distributed only

  9. Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review.

    Science.gov (United States)

    Hann, Katie E J; Freeman, Madeleine; Fraser, Lindsay; Waller, Jo; Sanderson, Saskia C; Rahman, Belinda; Side, Lucy; Gessler, Sue; Lanceley, Anne

    2017-05-25

    Genetic testing for risk of hereditary cancer can help patients to make important decisions about prevention or early detection. US and UK studies show that people from ethnic minority groups are less likely to receive genetic testing. It is important to understand various groups' awareness of genetic testing and its acceptability to avoid further disparities in health care. This review aims to identify and detail awareness, knowledge, perceptions, and attitudes towards genetic counselling/testing for cancer risk prediction in ethnic minority groups. A search was carried out in PsycInfo, CINAHL, Embase and MEDLINE. Search terms referred to ethnicity, genetic testing/counselling, cancer, awareness, knowledge, attitudes, and perceptions. Quantitative and qualitative studies, written in English, and published between 2000 and 2015, were included. Forty-one studies were selected for review: 39 from the US, and two from Australia. Results revealed low awareness and knowledge of genetic counselling/testing for cancer susceptibility amongst ethnic minority groups including African Americans, Asian Americans, and Hispanics. Attitudes towards genetic testing were generally positive; perceived benefits included positive implications for personal health and being able to inform family. However, negative attitudes were also evident, particularly the anticipated emotional impact of test results, and concerns about confidentiality, stigma, and discrimination. Chinese Australian groups were less studied, but of interest was a finding from qualitative research indicating that different views of who close family members are could impact on reported family history of cancer, which could in turn impact a risk assessment. Interventions are needed to increase awareness and knowledge of genetic testing for cancer risk and to reduce the perceived stigma and taboo surrounding the topic of cancer in ethnic minority groups. More detailed research is needed in countries other than the US and

  10. 76 FR 53909 - Draft Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation...

    Science.gov (United States)

    2011-08-30

    ...] Draft Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation... Administration (FDA) is announcing the availability of a draft guidance for industry entitled ``Tablet Scoring... should be met to facilitate the evaluation and labeling of tablets that have been scored. (A scoring...

  11. Revised Cretaceous and Tertiary stratigraphic nomenclature in the Colville Basin, Northern Alaska

    Science.gov (United States)

    Mull, Charles G.; Houseknecht, David W.; Bird, Kenneth J.

    2003-01-01

    A revised stratigraphic nomenclature is proposed for Cretaceous and Tertiary geologic units of the central and western North Slope of Alaska. This revised nomenclature is a simplified and broadly applicable scheme suitable for a suite of digital geologic quadrangle maps being prepared jointly by the U.S. Geological Survey and the Alaska Department of Natural Resources, Division of Geological and Geophysical Surveys and Division of Oil and Gas. This revised nomenclature scheme is a simplification of a complex stratigraphic terminology that developed piecemeal during five decades of geologic investigations of the North Slope. It is based on helicopter-supported geologic field investigations incorporating information from high-resolution aerial photography, satellite imagery, paleontology, reflection seismic records, and sequence stratigraphic concepts. This revised nomenclature proposes the abandonment of the Colville Group; demotion of the Nanushuk Group to formation status; abandonment of six formations (Kukpowruk, Tuktu, Grandstand, Corwin, Chandler, and Ninuluk); revision of four formations (Sagavanirktok, Prince Creek, Schrader Bluff, and Seabee); elevation of the Tuluvak Tongue of the Prince Creek Formation to formation status; revision of two members (Franklin Bluffs Member and Sagwon Member of the Sagavanirktok Formation); abandonment of eight members or tongues (Kogosukruk, Rogers Creek, Barrow Trail, Sentinel Hill, Ayiyak, Shale Wall, Niakogon, and Killik); and definition of one new member (White Hills Member of the Sagavanirktok Formation).

  12. Tiselius’ Potamogeton exsiccates: changes in taxonomy and nomenclature from one-century perspective

    Czech Academy of Sciences Publication Activity Database

    Kaplan, Zdeněk

    2010-01-01

    Roč. 47, č. 5 (2010), s. 373-393 ISSN 0003-3847 R&D Projects: GA ČR GA206/09/0291 Institutional research plan: CEZ:AV0Z60050516 Keywords : taxonomy * nomenclature * typifications Subject RIV: EF - Botanics Impact factor: 0.510, year: 2010

  13. Molecular mechanisms of cell death: recommendations of the Nomenclature Committee on Cell Death 2018

    NARCIS (Netherlands)

    Galluzzi, Lorenzo; Vitale, Ilio; Aaronson, Stuart A.; Abrams, John M.; Adam, Dieter; Agostinis, Patrizia; Alnemri, Emad S.; Altucci, Lucia; Amelio, Ivano; Andrews, David W.; Annicchiarico-Petruzzelli, Margherita; Antonov, Alexey V.; Arama, Eli; Baehrecke, Eric H.; Barlev, Nickolai A.; Bazan, Nicolas G.; Bernassola, Francesca; Bertrand, Mathieu J. M.; Bianchi, Katiuscia; Blagosklonny, Mikhail V.; Blomgren, Klas; Borner, Christoph; Boya, Patricia; Brenner, Catherine; Campanella, Michelangelo; Candi, Eleonora; Carmona-Gutierrez, Didac; Cecconi, Francesco; Chan, Francis K.-M.; Chandel, Navdeep S.; Cheng, Emily H.; Chipuk, Jerry E.; Cidlowski, John A.; Ciechanover, Aaron; Cohen, Gerald M.; Conrad, Marcus; Cubillos-Ruiz, Juan R.; Czabotar, Peter E.; D'Angiolella, Vincenzo; Dawson, Ted M.; Dawson, Valina L.; de Laurenzi, Vincenzo; de Maria, Ruggero; Debatin, Klaus-Michael; DeBerardinis, Ralph J.; Deshmukh, Mohanish; Di Daniele, Nicola; Di Virgilio, Francesco; Dixit, Vishva M.; Dixon, Scott J.; Duckett, Colin S.; Dynlacht, Brian D.; El-Deiry, Wafik S.; Elrod, John W.; Fimia, Gian Maria; Fulda, Simone; García-Sáez, Ana J.; Garg, Abhishek D.; Garrido, Carmen; Gavathiotis, Evripidis; Golstein, Pierre; Gottlieb, Eyal; Green, Douglas R.; Greene, Lloyd A.; Gronemeyer, Hinrich; Gross, Atan; Hajnoczky, Gyorgy; Hardwick, J. Marie; Harris, Isaac S.; Hengartner, Michael O.; Hetz, Claudio; Ichijo, Hidenori; Jäättelä, Marja; Joseph, Bertrand; Jost, Philipp J.; Juin, Philippe P.; Kaiser, William J.; Karin, Michael; Kaufmann, Thomas; Kepp, Oliver; Kimchi, Adi; Kitsis, Richard N.; Klionsky, Daniel J.; Knight, Richard A.; Kumar, Sharad; Lee, Sam W.; Lemasters, John J.; Levine, Beth; Linkermann, Andreas; Lipton, Stuart A.; Lockshin, Richard A.; López-Otín, Carlos; Lowe, Scott W.; Luedde, Tom; Lugli, Enrico; MacFarlane, Marion; Madeo, Frank; Malewicz, Michal; Malorni, Walter; Manic, Gwenola; Marine, Jean-Christophe; Martin, Seamus J.; Martinou, Jean-Claude; Medema, Jan Paul; Mehlen, Patrick; Meier, Pascal; Melino, Sonia; Miao, Edward A.; Molkentin, Jeffery D.; Moll, Ute M.; Muñoz-Pinedo, Cristina; Nagata, Shigekazu; Nuñez, Gabriel; Oberst, Andrew; Oren, Moshe; Overholtzer, Michael; Pagano, Michele; Panaretakis, Theocharis; Pasparakis, Manolis; Penninger, Josef M.; Pereira, David M.; Pervaiz, Shazib; Peter, Marcus E.; Piacentini, Mauro; Pinton, Paolo; Prehn, Jochen H. M.; Puthalakath, Hamsa; Rabinovich, Gabriel A.; Rehm, Markus; Rizzuto, Rosario; Rodrigues, Cecilia M. P.; Rubinsztein, David C.; Rudel, Thomas; Ryan, Kevin M.; Sayan, Emre; Scorrano, Luca; Shao, Feng; Shi, Yufang; Silke, John; Simon, Hans-Uwe; Sistigu, Antonella; Stockwell, Brent R.; Strasser, Andreas; Szabadkai, Gyorgy; Tait, Stephen W. G.; Tang, Daolin; Tavernarakis, Nektarios; Thorburn, Andrew; Tsujimoto, Yoshihide; Turk, Boris; Vanden Berghe, Tom; Vandenabeele, Peter; Vander Heiden, Matthew G.; Villunger, Andreas; Virgin, Herbert W.; Vousden, Karen H.; Vucic, Domagoj; Wagner, Erwin F.; Walczak, Henning; Wallach, David; Wang, Ying; Wells, James A.; Wood, Will; Yuan, Junying; Zakeri, Zahra; Zhivotovsky, Boris; Zitvogel, Laurence; Melino, Gerry; Kroemer, Guido

    2018-01-01

    Over the past decade, the Nomenclature Committee on Cell Death (NCCD) has formulated guidelines for the definition and interpretation of cell death from morphological, biochemical, and functional perspectives. Since the field continues to expand and novel mechanisms that orchestrate multiple cell

  14. Working with Tajikistan to Develop its First National Commodity Nomenclature of Foreign Economic Activities

    OpenAIRE

    Aliev, Alijon; Konar-Leacy, Violane

    2017-01-01

    One of the most important instruments of trade facilitation is the commodity nomenclature, which provides a definition of all goods subject to foreign trade. The correct classification of goods forms the basis for determining the appropriate value of a good and for determining the customs duties imposed on a good on import or export. Customs statistics on foreign trade are derived from it,...

  15. Proposal for a new nomenclature of disease-modifying antirheumatic drugs

    NARCIS (Netherlands)

    Smolen, Josef S.; van der Heijde, Desiree; Machold, Klaus P.; Aletaha, Daniel; Landewe, Robert

    2014-01-01

    In light of the recent emergence of new therapeutics for rheumatoid arthritis, such as kinase inhibitors and biosimilars, a new nomenclature for disease-modifying antirheumatic drugs (DMARDs), which are currently often classified as synthetic (or chemical) DMARDs (sDMARDS) and biological DMARDs

  16. International Code of Nomenclature for Algae, Fungi, and Plants (Melbourne Code): Appendices II-VIII

    Science.gov (United States)

    Science requires a precise, stable, and simple system of nomenclature used by scientists in all countries of the world, dealing on the one hand with the terms that denote the ranks of taxonomic groups, and on the other with the scientific names that are applied to the individual taxonomic units of a...

  17. Comparison study of resistance exercise nomenclature adopted among professionals and undergraduate physical education students

    Directory of Open Access Journals (Sweden)

    Leonardo Mendes de Souza

    2016-05-01

    Full Text Available DOI: http://dx.doi.org/10.5007/1980-0037.2016v18n2p233   In the past few years, increased popularity of resistance training (RT and a significant increase in the number of professionals and undergraduate in Physical Education students have been observed. A variety of names has been usually adopted for the same resistance exercise in fields. The aim of the study was to compare the resistance exercise nomenclature adopted by physical education professionals and students, and also to identify the frequencies of names adopted for these resistance exercises. The study included 191 graduate students and active physical education professionals of RT centers and gyms in the state of Rio de Janeiro, Brazil. Ten exercises traditionally performed on RT programs were selected. The results indicated that there was no association between the nomenclature of exercises and academic degree for all exercises included in the survey. However, there was significant difference (p <0.001 among response frequencies for each exercise, for the whole sample. In this sense, this study enabled identifying significant differences in the nomenclature of resistance exercises. Therefore, nomenclature standardization is essential to establish a direction and clearness in communication among professionals.

  18. A Case Study of Implications and Applications of Standardized Nomenclature for Asset Management in Healthcare

    Science.gov (United States)

    DeFrancesco, Jennifer A.

    2016-01-01

    Healthcare organizations strive to adapt to the continuous change in what has become a fast-paced, high technology environment. Many organizations are charged to find efficiencies to better manage medical device assets. Increasingly, healthcare leaders opt to adopt a standardized medical device nomenclature under the purview of a set of national…

  19. Nomenclatural notes on the genera Amphicoma and Anthypna (Coleoptera: Scarabaeoidea: Glaphyridae)

    Czech Academy of Sciences Publication Activity Database

    Bezděk, Aleš; Nikodým, M.; Hawkins, S.J.

    2004-01-01

    Roč. 12, č. 4 (2004), s. 205-211 ISSN 1210-4108 R&D Projects: GA AV ČR(CZ) IBS5007015 Grant - others:NSF/PEET(US) DEB-0118669 Institutional research plan: CEZ:AV0Z5007907 Keywords : taxonomy * nomenclatural history * new combinations Subject RIV: EG - Zoology

  20. Nomenclatural studies toward a world list of Diptera genus-group names. Part V

    DEFF Research Database (Denmark)

    Evenhuis, Neal L.; Pape, Thomas; Pont, Adrian C.

    and method of fixation, current status of the name, family placement, and a list of any emendations of it that have been found in the literature. Remarks are given to clarify nomenclatural or taxonomic information. In addition, an index to all the species-group names of Diptera proposed by Macquart (3...

  1. The nomenclature of the Athenian Artists of Dionysus in IG II2 1132-3

    DEFF Research Database (Denmark)

    Lech, Marcel Lysgaard

    2013-01-01

    In this article, I discuss the earliest nomenclature of the Athenian artists of Dionysus, which I will argue is not only unique among the overall evidence on Dionysiac artists available to us at this point, but also evinces a recognized political potential in the newly organized association of th...

  2. Usage of the International Nomenclatures and Metathesauruses in Shared Healthcare in the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Přečková, Petra; Špidlen, Josef; Zvárová, Jana

    2005-01-01

    Roč. 13, - (2005), s. 201-205 ISSN 0353-8109 R&D Projects: GA AV ČR 1ET200300413 Institutional research plan: CEZ:AV0Z10300504 Keywords : metathesaurus * ontology * classifiation * nomenclature * electronic health record Subject RIV: FQ - Public Health Care, Social Medicine

  3. Proposal for unified nomenclatural rules for Cyanobacteria vs. Cyanophytes: “Cyano-Guide”

    Czech Academy of Sciences Publication Activity Database

    Komárek, Jiří; Golubić, S.

    2005-01-01

    Roč. 158, č. 117 (2005), s. 17-18 ISSN 0342-1120. [Symposium of the International Association for Cyanophyte Research /16./. Luxembourg, 30.08.2004-03.09.2004] R&D Projects: GA AV ČR(CZ) KSK6005114 Institutional research plan: CEZ:AV0Z6005908 Keywords : cyanobacteria * nomenclature * nomenclatoric Code Subject RIV: EF - Botanics

  4. The UDP glucuronosyltransferase gene superfamily: suggested nomenclature based on evolutionary divergence

    NARCIS (Netherlands)

    Burchell, B.; Nebert, D. W.; Nelson, D. R.; Bock, K. W.; Iyanagi, T.; Jansen, P. L.; Lancet, D.; Mulder, G. J.; Chowdhury, J. R.; Siest, G.

    1991-01-01

    A nomenclature system for the UDP glucuronosyltransferase superfamily is proposed, based on divergent evolution of the genes. A total of 26 distinct cDNAs in five mammalian species have been sequenced to date. Comparison of the deduced amino acid sequences leads to the definition of two families and

  5. Effectiveness of E-Content Package on Teaching IUPAC Nomenclature of Organic Chemistry at Undergraduate Level

    Science.gov (United States)

    Devendiran, G.; Vakkil, M.

    2017-01-01

    This study attempts to discover the effectiveness of an e-content package when teaching IUPAC nomenclature of organic chemistry at the undergraduate level. The study consisted of a Pre-test-Post-test Non Equivalent Groups Design, and the sample of 71 (n = 71) students were drawn from two colleges. The overall study was divided into two groups, an…

  6. 26 CFR 1.338-2 - Nomenclature and definitions; mechanics of the section 338 election.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 4 2010-04-01 2010-04-01 false Nomenclature and definitions; mechanics of the section 338 election. 1.338-2 Section 1.338-2 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE... definitions; mechanics of the section 338 election. (a) Scope. This section prescribes rules relating to...

  7. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.

    Science.gov (United States)

    Zhong, Adrina; Darren, Benedict; Dimaras, Helen

    2017-07-11

    There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged. An integrated knowledge translation approach will be undertaken by engaging knowledge users throughout the review to ensure relevance to their practice. Electronic databases encompassing various disciplines, such as healthcare, social sciences, and public health, will be searched. Studies that address clinical genetic testing and/or counseling and ethical, social, and/or cultural issues of these genetic services, and are performed in low- and middle-income countries as defined by World Bank will be considered for inclusion. Two independent reviewers will be involved in a two-stage literature screening process, data extraction, and quality appraisal. Studies included in the review will be analyzed by thematic analysis. A narrative synthesis guided by the social ecological model will be used to summarize findings. This systematic review will provide a foundation of evidence regarding ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries. Using the social ecological model as a conceptual framework will facilitate the understanding of broader influences of the sociocultural context on an individual's experience with clinical genetic testing and counseling, thereby informing interdisciplinary sectors in future recommendations for practice and policy. PROSPERO CRD42016042894.

  8. Reliability and reproducibility of subaxial cervical injury description system: a standardized nomenclature schema.

    Science.gov (United States)

    Bono, Christopher M; Schoenfeld, Andrew; Gupta, Giri; Harrop, James S; Anderson, Paul; Patel, Alpesh A; Dimar, John; Aarabi, Bizhan; Dailey, Andrew; Vaccaro, Alexander R; Gahr, Ralf; Shaffrey, Christopher; Anderson, David G; Rampersaud, Raj

    2011-08-01

    Radiographic measurement study. To develop a standardized cervical injury nomenclature system to facilitate description, communication, and classification among health care providers. The reliability and reproducibility of this system was then examined. Description of subaxial cervical injuries is critical for treatment decision making and comparing scientific reports of outcomes. Despite a number of available classification systems, surgeons, and researchers continue to use descriptive nomenclature, such as "burst" and "teardrop" fractures, to describe injuries. However, there is considerable inconsistency with use of such terms in the literature. Eleven distinct injury types and associated definitions were established for the subaxial cervical spine and subsequently refined by members of the Spine Trauma Study Group. A series of 18 cases of patients with a broad spectrum of subaxial cervical spine injuries was prepared and distributed to surgeon raters. Each rater was provided with the full nomenclature document and asked to select primary and secondary injury types for each case. After receipt of the raters' first round of classifications, the cases were resorted and returned to the raters for a second round of review. Interrater and intrarater reliabilities were calculated as percent agreement and Cohen kappa (κ) values. Intrarater reliability was assessed by comparing a given rater's diagnosis from the first and second rounds. Nineteen surgeons completed the first and second rounds of the study. Overall, the system demonstrated 56.4% interrater agreement and 72.8% intrarater agreement. Overall, interrater κ values demonstrated moderate agreement while intrarater κ values showed substantial agreement. Analyzed by injury types, only four (burst fractures, lateral mass fractures, flexion teardrop fractures, and anterior distraction injuries) demonstrated greater than 50% interrater agreement. This study demonstrated that, even in ideal circumstances, there is

  9. Impacts of phylogenetic nomenclature on the efficacy of the U.S. Endangered Species Act.

    Science.gov (United States)

    Leslie, Matthew S

    2015-02-01

    Cataloging biodiversity is critical to conservation efforts because accurate taxonomy is often a precondition for protection under laws designed for species conservation, such as the U.S. Endangered Species Act (ESA). Traditional nomenclatural codes governing the taxonomic process have recently come under scrutiny because taxon names are more closely linked to hierarchical ranks than to the taxa themselves. A new approach to naming biological groups, called phylogenetic nomenclature (PN), explicitly names taxa by defining their names in terms of ancestry and descent. PN has the potential to increase nomenclatural stability and decrease confusion induced by the rank-based codes. But proponents of PN have struggled with whether species and infraspecific taxa should be governed by the same rules as other taxa or should have special rules. Some proponents advocate the wholesale abandonment of rank labels (including species); this could have consequences for the implementation of taxon-based conservation legislation. I examined the principles of PN as embodied in the PhyloCode (an alternative to traditional rank-based nomenclature that names biological groups based on the results of phylogenetic analyses and does not associate taxa with ranks) and assessed how this novel approach to naming taxa might affect the implementation of species-based legislation by providing a case study of the ESA. The latest version of the PhyloCode relies on the traditional rank-based codes to name species and infraspecific taxa; thus, little will change regarding the main targets of the ESA because they will retain rank labels. For this reason, and because knowledge of evolutionary relationships is of greater importance than nomenclatural procedures for initial protection of endangered taxa under the ESA, I conclude that PN under the PhyloCode will have little impact on implementation of the ESA. © 2014 Society for Conservation Biology.

  10. SU-E-P-22: AAPM Task Group 263 Tackling Standardization of Nomenclature for Radiation Therapy

    Energy Technology Data Exchange (ETDEWEB)

    Matuszak, M; Feng, M [University of Michigan, Ann Arbor, MI (United States); Moran, J [Univ Michigan Medical Center, Ann Arbor, MI (United States); Xiao, Y [Thomas Jefferson University, Philadelphia, PA (United States); Mayo, C; Miller, R [Mayo Clinic, Rochester, MN (United States); Bosch, W [Washington Univ, Saint Louis, MO (United States); Popple, R [Univ Alabama Birmingham, Birmingham, AL (United States); Marks, L [UNC School of Medicine, Chapel Hill, NC (United States); Wu, Q [Duke University Medical Center, Durham, NC (United States); Molineu, A; Martel, M [UT MD Anderson Cancer Center, Houston, TX (United States); Yock, T [Massachusetts General Hospital, Boston, MA (United States); McNutt, T [Johns Hopkins University, Severna Park, MD (United States); Brown, N [Baptist Medical Center, Jacksonville, FL (United States); Purdie, T [Princess Margaret Hospital, Toronto, ON (Canada); Yorke, E [Memorial Sloan-Kettering Cancer Center, New York, NY (United States); Santanam, L [Washington University School of Medicine, St.louis, MO (United States); Gabriel, P [University of Pennsylvania, Philadelphia, PA (United States); Michalski, J [Washington University, Saint Louis, MO (United States); and others

    2015-06-15

    Purpose: There is growing recognition of need for increased clarity and consistency in the nomenclatures used for body and organ structures, DVH metrics, toxicity, dose and volume units, etc. Standardization has multiple benefits; e.g. facilitating data collection for clinical trials, enabling the pooling of data between institutions, making transfers (i.e. hand-offs) between centers safer, and enabling vendors to define “default” settings. Towards this goal, the American Association of Physicists in Medicine (AAPM) formed a task group (TG263) in July of 2014, operating under the Work Group on Clinical Trials to develop consensus statements. Guiding principles derived from the investigation and example nomenclatures will be presented for public feedback. Methods: We formed a multi-institutional and multi-vendor collaborative group of 39 physicists, physicians and others involved in clinical use and electronic transfer of information. Members include individuals from IROC, NRG, IHE-RO, DICOM WG-7, ASTRO and EORTC groups with overlapping interests to maximize the quality of the consensus and increase the likelihood of adoption. Surveys of group and NRG members were used to define current nomenclatures and requirements. Technical requirements of vendor systems and the proposed DICOM standards were examined. Results: There is a marked degree of inter and intra institutional variation in current approaches, resulting from inter-vendor differences in capabilities, clinic specific conceptualizations and inconsistencies. Using a consensus approach, the group defined optimal formats for the naming of targets and normal structures. A formal objective assessment of 13 existing clinically-used software packages show that all had capabilities to accommodate these recommended nomenclatures. Conclusions: A multi-stakeholder effort is making significant steps forward in developing a standard nomenclature that will work across platforms. Our current working list includes > 550

  11. Wolf population genetics in Europe: a systematic review, meta-analysis and suggestions for conservation and management.

    Science.gov (United States)

    Hindrikson, Maris; Remm, Jaanus; Pilot, Malgorzata; Godinho, Raquel; Stronen, Astrid Vik; Baltrūnaité, Laima; Czarnomska, Sylwia D; Leonard, Jennifer A; Randi, Ettore; Nowak, Carsten; Åkesson, Mikael; López-Bao, José Vicente; Álvares, Francisco; Llaneza, Luis; Echegaray, Jorge; Vilà, Carles; Ozolins, Janis; Rungis, Dainis; Aspi, Jouni; Paule, Ladislav; Skrbinšek, Tomaž; Saarma, Urmas

    2017-08-01

    The grey wolf (Canis lupus) is an iconic large carnivore that has increasingly been recognized as an apex predator with intrinsic value and a keystone species. However, wolves have also long represented a primary source of human-carnivore conflict, which has led to long-term persecution of wolves, resulting in a significant decrease in their numbers, genetic diversity and gene flow between populations. For more effective protection and management of wolf populations in Europe, robust scientific evidence is crucial. This review serves as an analytical summary of the main findings from wolf population genetic studies in Europe, covering major studies from the 'pre-genomic era' and the first insights of the 'genomics era'. We analyse, summarize and discuss findings derived from analyses of three compartments of the mammalian genome with different inheritance modes: maternal (mitochondrial DNA), paternal (Y chromosome) and biparental [autosomal microsatellites and single nucleotide polymorphisms (SNPs)]. To describe large-scale trends and patterns of genetic variation in European wolf populations, we conducted a meta-analysis based on the results of previous microsatellite studies and also included new data, covering all 19 European countries for which wolf genetic information is available: Norway, Sweden, Finland, Estonia, Latvia, Lithuania, Poland, Czech Republic, Slovakia, Germany, Belarus, Russia, Italy, Croatia, Bulgaria, Bosnia and Herzegovina, Greece, Spain and Portugal. We compared different indices of genetic diversity in wolf populations and found a significant spatial trend in heterozygosity across Europe from south-west (lowest genetic diversity) to north-east (highest). The range of spatial autocorrelation calculated on the basis of three characteristics of genetic diversity was 650-850 km, suggesting that the genetic diversity of a given wolf population can be influenced by populations up to 850 km away. As an important outcome of this synthesis, we

  12. Genetic aspects and classification of important Canadian uranium deposits

    International Nuclear Information System (INIS)

    McMillan, R.H.

    1978-01-01

    A classification of important uranium deposits which utilizes both genetic and descriptive criteria is presented. The dual aspect is useful because, while the non-genetic nomenclature for the different deposit types is amenable to various interpretations, the critical characteristics of each deposit can be analyzed to clarify various genetic points. Although the classification is intended primarily for Canadian uranium deposits, most of the important deposit types known elsewhere can be accommodated. (auth)

  13. Genetic aspects and classification of important Canadian uranium deposits

    International Nuclear Information System (INIS)

    McMillan, R.H.

    1978-01-01

    A classification of important uranium deposits which utilizes both genetic and descriptive criteria is presented. The dual aspect is useful because, while the non-genetic nomenclature for the different deposit types is amenable to various interpretations, the critical characteristics of each deposit type can be analyzed to clarify various genetic points. Although the classification is intended primarily for Canadian uranium deposits, most of the important deposit types known elsewhere can be accommodated. (author)

  14. Fungal Systematics and Evolution: FUSE 1

    OpenAIRE

    Crous, Pedro W; Schumacher, René K; Wingfield, Michael J; Lombard, Lorenzo; Giraldo, Alejandra; Christensen, Martha; Gardiennet, Alain; Nakashima, Chiharu; Pereira, Olinto L; Smith, Alexander J; Groenewald, Johannes Z

    2015-01-01

    Fungal Systematics and Evolution (FUSE) is introduced as a new series to expedite the publication of issues relating to the epitypification of formerly described species, report new sexual-asexual connections, the merging of sexual and asexual gen¬era following the end of dual nomenclature, and to describe species or note interesting observations regarding fungi. This first paper includes 18 new combinations, 13 new species, three new genera and one new family. All taxa are ascomycetes, excep...

  15. A framework for a European network for a systematic environmental impact assessment of genetically modified organisms (GMO).

    NARCIS (Netherlands)

    Graef, F.; Römbke, J.; Binimelis, R.; Myhr, A.I.; Hilbeck, A.; Breckling, B.; Dalgaard, T.; Stachow, U.; Catacora-Vargas, G.; Bohn, T.; Quist, D.; Darvas, B.; Dudel, G.; Oehen, B.; Meyer, H.; Henle, K.; Wynne, B.; Metzger, M.J.; Knäbe, S.; Settele, J.; Székács, A.; Wurbs, A.; Bernard, J.P.; Murphy-Bokern, D.; Buiatti, M.; Giovannetti, M.; Debeljak, M.; Andersen, E.; Paetz, A.; Dzeroski, S.; Tappeser, B.; van Gestel, C.A.M.; Wosniok, W.; Séralini, G.-E.; Aslaksen, I.; Pesch, R.; Maly, S.; Werner, A.

    2012-01-01

    The assessment of the impacts of growing genetically modified (GM) crops remains a major political and scientific challenge in Europe. Concerns have been raised by the evidence of adverse and unexpected environmental effects and differing opinions on the outcomes of environmental risk assessments

  16. Early Pregnancy Losses: Review of Nomenclature, Histopathology, and Possible Etiologies.

    Science.gov (United States)

    Pinar, M Halit; Gibbins, Karen; He, Mai; Kostadinov, Stefan; Silver, Robert

    2018-05-08

    Miscarriage is a frequent complication of human pregnancy: ∼50% to 70% of spontaneous conceptions are lost prior to the second trimester. Etiology of miscarriage includes genetic abnormalities, infections, immunological and implantation disorders, uterine and endocrine abnormalities, and lifestyle factors. Given such variability, knowledge regarding causes, pathophysiological mechanisms, and morphologies of primary early pregnancy loss has significant gaps; often, pregnancy losses remain unexplained. Pathologic evaluation of miscarriage tissue is an untapped source of knowledge. Although miscarriage specimens comprise a significant part of pathologists' workload, information reported from these specimens is typically of minimal clinical utility for delineating etiology or predicting recurrence risk. Standardized terminology is available, though not universally used. We reintroduce the terminology and review new information about early pregnancy losses and their morphologies. Current clinical terminology is inconsistent, hampering research progress. This review is a resource for diagnostic pathologists studying this complex problem.

  17. Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis.

    Science.gov (United States)

    Stewart, Kelly F J; Wesselius, Anke; Schreurs, Maartje A C; Schols, Annemie M W J; Zeegers, Maurice P

    2018-01-01

    It has been hypothesised that direct-to-consumer genetic tests (DTC-GTs) could stimulate health behaviour change. However, genetic testing may also lead to anxiety and distress or unnecessarily burden the health care system. The aim is to review and meta-analyse the effects of DTC-GT on (1) behaviour change, (2) psychological response and (3) medical consumption. A systematic literature search was performed in three databases, using "direct-to-consumer genetic testing" as a key search term. Random effects meta-analyses were performed when at least two comparable outcomes were available. After selection, 19 articles were included involving 11 unique studies. Seven studies involved actual consumers who paid the retail price, whereas four included participants who received free genetic testing as part of a research trial (non-actual consumers). In meta-analysis, 23% had a positive lifestyle change. More specifically, improved dietary and exercise practices were both reported by 12%, whereas 19% quit smoking. Seven percent of participants had subsequent preventive checks. Thirty-three percent shared their results with any health care professional and 50% with family and/or friends. Sub-analyses show that behaviour change was more prevalent among non-actual consumers, whereas sharing was more prevalent among actual consumers. Results on psychological responses showed that anxiety, distress and worry were low or absent and that the effect faded with time. DTC-GT has potential to be effective as a health intervention, but the right audience needs to be addressed with tailored follow-up. Research is needed to identify consumers who do and do not change behaviour or experience adverse psychological responses.

  18. A New Anatomically Based Nomenclature for the Roots and Root Canals—Part 1: Maxillary Molars

    Directory of Open Access Journals (Sweden)

    Jojo Kottoor

    2012-01-01

    Full Text Available Numerous terminologies have been employed in the dental literature to describe the roots and root canal systems of maxillary molars. This multiplicity in naming of roots and canals makes the reader susceptible to misinterpretation and confusion. No consensus thus far has been arrived at for defining the names of roots and root canals in maxillary molars, including their various morphological aberrations. The anatomical relation of roots and their root canals were identified and were subsequently named based on definite sets of criteria. A new method for identification and naming of roots and root canal anatomy in maxillary molars, based on their root and canal relationship, was formulated and is presented in this paper. The nomenclature makes certain essential modifications to the traditional approach to accommodate naming of the various aberrations presented in the maxillary molars. A simple, yet extensive, nomenclature system has been proposed that appropriately names the internal and external morphology of maxillary molars.

  19. A new anatomically based nomenclature for the roots and root canals-part 1: maxillary molars.

    Science.gov (United States)

    Kottoor, Jojo; Albuquerque, Denzil Valerian; Velmurugan, Natanasabapathy

    2012-01-01

    Numerous terminologies have been employed in the dental literature to describe the roots and root canal systems of maxillary molars. This multiplicity in naming of roots and canals makes the reader susceptible to misinterpretation and confusion. No consensus thus far has been arrived at for defining the names of roots and root canals in maxillary molars, including their various morphological aberrations. The anatomical relation of roots and their root canals were identified and were subsequently named based on definite sets of criteria. A new method for identification and naming of roots and root canal anatomy in maxillary molars, based on their root and canal relationship, was formulated and is presented in this paper. The nomenclature makes certain essential modifications to the traditional approach to accommodate naming of the various aberrations presented in the maxillary molars. A simple, yet extensive, nomenclature system has been proposed that appropriately names the internal and external morphology of maxillary molars.

  20. Taxonomy of Fungi Causing Mucormycosis and Entomophthoramycosis (Zygomycosis) and Nomenclature of the Disease: Molecular Mycologic Perspectives

    Science.gov (United States)

    2012-01-01

    Molecular phylogenetic analysis confirmed the phylum Zygomycota to be polyphyletic, and the taxa conventionally classified in Zygomycota are now distributed among the new phylum Glomeromycota and 4 subphyla incertae sedis (uncertain placement). Because the nomenclature of the disease zygomycosis was based on the phylum Zygomycota (Zygomycetes) in which the etiologic agents had been classified, the new classification profoundly affects the name of the disease. Zygomycosis was originally described as a convenient and inclusive name for 2 clinicopathologically different diseases, mucormycosis caused by members of Mucorales and entomophthoramycosis caused by species in the order Entomophthorales of Zygomycota. Without revision of original definition, the name “zygomycosis,” however, has more often been used as a synonym only for mucormycosis. This article reviews the progress and changes in taxonomy and nomenclature of Zygomycota and the disease zygomycosis. The article also reiterates the reasons why the classic names “mucormycosis” and “entomophthoramycosis” are more appropriate than “zygomycosis.” PMID:22247451

  1. Explanations on nomenclature and number of material for steels in accordance with DIN norm - (Deutsch Industrie Norm)

    International Nuclear Information System (INIS)

    Barone, S.D.; Silva, T.C.V. da; Bittencourt, M.S.Q.

    1980-01-01

    The materials specified by DIN norm are identified by its nomenclature and corresponding DIN number. The characters (numbers and letters) aim to classify the material and provide indication on main alloy properties and elements. (M.C.K.) [pt

  2. Searching for non-genetic molecular and imaging PTSD risk and resilience markers: Systematic review of literature and design of the German Armed Forces PTSD biomarker study.

    Science.gov (United States)

    Schmidt, Ulrike; Willmund, Gerd-Dieter; Holsboer, Florian; Wotjak, Carsten T; Gallinat, Jürgen; Kowalski, Jens T; Zimmermann, Peter

    2015-01-01

    Biomarkers allowing the identification of individuals with an above average vulnerability or resilience for posttraumatic stress disorder (PTSD) would especially serve populations at high risk for trauma exposure like firefighters, police officers and combat soldiers. Aiming to identify the most promising putative PTSD vulnerability markers, we conducted the first systematic review on potential imaging and non-genetic molecular markers for PTSD risk and resilience. Following the PRISMA guidelines, we systematically screened the PubMed database for prospective longitudinal clinical studies and twin studies reporting on pre-trauma and post-trauma PTSD risk and resilience biomarkers. Using 25 different combinations of search terms, we retrieved 8151 articles of which we finally included and evaluated 9 imaging and 27 molecular studies. In addition, we briefly illustrate the design of the ongoing prospective German Armed Forces (Bundeswehr) PTSD biomarker study (Bw-BioPTSD) which not only aims to validate these previous findings but also to identify novel and clinically applicable molecular, psychological and imaging risk, resilience and disease markers for deployment-related psychopathology in a cohort of German soldiers who served in Afghanistan. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. A framework for a european network for a systematic environmental impact assessment of genetically modified organisms (GMO)

    DEFF Research Database (Denmark)

    Graef, Frieder; Römbke, Jörg; Binimelis, Rosa

    2012-01-01

    Network for systematic GMO impact assessment (ENSyGMO) with the aim directly to enhance ERA and post-market environmental monitoring (PMEM) of GM crops, to harmonize and ultimately secure the long-term socio-political impact of the ERA process and the PMEM in the EU. These goals would be achieved...... effects and use state-of-the art sampling, statistics and modelling approaches. To address public concerns and create confidence in the ENSyGMO results, actors with relevant specialist knowledge from various sectors should be involved....

  4. Characterization and Proposed Nomenclature of Epidemic Strains of MRSA in Canada

    Directory of Open Access Journals (Sweden)

    AE Simor

    1999-01-01

    Full Text Available The incidence of methicillin-resistant Staphylococcus aureus (MRSA has been increasing in many Canadian hospitals over the past few years. Some strains may be considered ‘epidemic’, in that they are clinically or epidemiologically significant, and have been identified in patients from multiple hospitals and geographic regions across the country. This paper describes phenotypic and genotypic characteristics of four epidemic MRSA strains in Canada and proposes standardized nomenclature.

  5. Molecular mechanisms of cell death: recommendations of the Nomenclature Committee on Cell Death 2018

    OpenAIRE

    Galluzzi, L; Vitale, I; Aaronson, Sa; Abrams, Jm; Adam, D; Agostinis, P; Alnemri, Es; Altucci, L; Amelio, I; Andrews, Dw; Annicchiarico-Petruzzelli, M; Antonov, Av; Arama, E; Baehrecke, Eh; Barlev, Na

    2018-01-01

    Over the past decade, the Nomenclature Committee on Cell Death (NCCD) has formulated guidelines for the definition and interpretation of cell death from morphological, biochemical, and functional perspectives. Since the field continues to expand and novel mechanisms that orchestrate multiple cell death pathways are unveiled, we propose an updated classification of cell death subroutines focusing on mechanistic and essential (as opposed to correlative and dispensable) aspects of the process. A...

  6. Review of the Nomenclature of the Retaining Ligaments of the Cheek: Frequently Confused Terminology

    Directory of Open Access Journals (Sweden)

    Yeui Seok Seo

    2017-07-01

    Full Text Available Since the time of its inception within facial anatomy, wide variability in the terminology as well as the location and extent of retaining ligaments has resulted in confusion over nomenclature. Confusion over nomenclature also arises with regard to the subcutaneous ligamentous attachments, and in the anatomic location and extent described, particularly for zygomatic and masseteric ligaments. Certain historical terms—McGregor’s patch, the platysma auricular ligament, parotid cutaneous ligament, platysma auricular fascia, temporoparotid fasica (Lore’s fascia, anterior platysma-cutaneous ligament, and platysma cutaneous ligament—delineate retaining ligaments of related anatomic structures that have been conceptualized in various ways. Confusion around the masseteric cutaneous ligaments arises from inconsistencies in their reported locations in the literature because the size and location of the parotid gland varies so much, and this affects the relationship between the parotid gland and the fascia of the masseter muscle. For the zygomatic ligaments, there is disagreement over how far they extend, with descriptions varying over whether they extend medially beyond the zygomaticus minor muscle. Even the ‘main’ zygomatic ligament’s denotation may vary depending on which subcutaneous plane is used as a reference for naming it. Recent popularity in procedures using threads or injectables has required not only an accurate understanding of the nomenclature of retaining ligaments, but also of their location and extent. The authors have here summarized each retaining ligament with a survey of the different nomenclature that has been introduced by different authors within the most commonly cited published papers.

  7. An Essay on the History of the Russian and Soviet Bureaucratic Nomenclature

    OpenAIRE

    Alexander Obolonsky

    2015-01-01

    The topic of the paper is the history of Russian nomenclature bureaucratic system from the beginning of the 19-th century to the contemporary time. As the Soviet period is the main subject of attention, the earlier times are considered rather briefly, with the accent being made on the 19-th century attempts to modernize bureaucracy, particularly on M. Speranskys initiative to introduce an education criterion instead of the domineering then length of service, and also on periodical unsuccessfu...

  8. Non-native vascular plants from Canary Islands (Spain): nomenclatural and taxonomical adjustments

    OpenAIRE

    Verloove, F.

    2013-01-01

    Se propone correcciones taxonómicas y nomenclaturales respecto a 88 taxones no nativos de la lista de plantas vasculares de las Islas Canarias (España). Non-native vascular plants from Canary Islands (Spain): nomenclatural and taxonomical adjustments. Corrections and other adjustments are proposed for 88 non-native taxa from the checklist of vascular plants from the Canary Islands (Spain).

  9. Nomenclatural status of Euptychia mollina Hübner, 1818 (Lepidoptera: Nymphalidae: Satyrinae).

    Science.gov (United States)

    Lamas, Gerardo; Nakahara, Shinichi

    2015-04-13

    The purpose of this note is to clarify the nomenclatural status of Euptychia mollina Hübner, 1818, the type species of Euptychia Hübner, 1818, as there seems to be confusion regarding its year of publication. Due to an unfortunate oversight, Lamas (2004) listed the name as Euptychia mollina (Hübner, [1813]), and this mistake has been repeated in the subsequent literature (e.g. Brévignon 2005; Warren et al. 2014; Neild et al. 2014).

  10. miRiadne: a web tool for consistent integration of miRNA nomenclature.

    Science.gov (United States)

    Bonnal, Raoul J P; Rossi, Riccardo L; Carpi, Donatella; Ranzani, Valeria; Abrignani, Sergio; Pagani, Massimiliano

    2015-07-01

    The miRBase is the official miRNA repository which keeps the annotation updated on newly discovered miRNAs: it is also used as a reference for the design of miRNA profiling platforms. Nomenclature ambiguities generated by loosely updated platforms and design errors lead to incompatibilities among platforms, even from the same vendor. Published miRNA lists are thus generated with different profiling platforms that refer to diverse and not updated annotations. This greatly compromises searches, comparisons and analyses that rely on miRNA names only without taking into account the mature sequences, which is particularly critic when such analyses are carried over automatically. In this paper we introduce miRiadne, a web tool to harmonize miRNA nomenclature, which takes into account the original miRBase versions from 10 up to 21, and annotations of 40 common profiling platforms from nine brands that we manually curated. miRiadne uses the miRNA mature sequence to link miRBase versions and/or platforms to prevent nomenclature ambiguities. miRiadne was designed to simplify and support biologists and bioinformaticians in re-annotating their own miRNA lists and/or data sets. As Ariadne helped Theseus in escaping the mythological maze, miRiadne will help the miRNA researcher in escaping the nomenclature maze. miRiadne is freely accessible from the URL http://www.miriadne.org. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  11. Introduction to the Arizona Sky Island Arthropod Project (ASAP): Systematics, Biogeography, Ecology, and Population Genetics of Arthropods of the Madrean Sky Islands.

    Science.gov (United States)

    Moore, Wendy; Meyer, Wallace M; Eble, Jeffrey A; Franklin, Kimberly; Wiens, John F; Brusca, Richard C

    2013-01-01

    The Arizona Sky Island Arthropod Project (ASAP) is a new multi-disciplinary research program at the University of Arizona that combines systematics, biogeography, ecology, and population genetics to study origins and patterns of arthropod diversity along elevation gradients and among mountain ranges in the Madrean Sky Island Region. Arthropods represent taxonomically and ecologically diverse organisms that drive key ecosystem processes in this mountain archipelago. Using data from museum specimens and specimens we obtain during long-term collecting and monitoring programs, ASAP will document arthropod species across Arizona's Sky Islands to address a number of fundamental questions about arthropods of this region. Baseline data will be used to determine climatic boundaries for target species, which will then be integrated with climatological models to predict future changes in arthropod communities and distributions in the wake of rapid climate change. ASAP also makes use of the natural laboratory provided by the Sky Islands to investigate ecological and genetic factors that influence diversification and patterns of community assembly. Here, we introduce the project, outline overarching goals, and describe preliminary data from the first year of sampling ground-dwelling beetles and ants in the Santa Catalina Mountains.

  12. Phylogeography, genetic variability and structure of Acanthamoeba metapopulations in Iran inferred by 18S ribosomal RNA sequences: A systematic review and meta-analysis.

    Science.gov (United States)

    Spotin, Adel; Moslemzadeh, Hamid Reza; Mahami-Oskouei, Mahmoud; Ahmadpour, Ehsan; Niyyati, Maryam; Hejazi, Seyed Hossein; Memari, Fatemeh; Noori, Jafar

    2017-09-01

    To verify phylogeography and genetic structure of Acanthamoeba populations among the Iranian clinical isolates and natural/artificial environments distributed in various regions of the country. We searched electronic databases including Medline, PubMed, Science Direct, Scopus and Google Scholar from 2005 to 2016. To explore the genetic variability of Acanthamoeba sp, 205 sequences were retrieved from keratitis patients, immunosuppressed cases and environmental sources as of various geographies of Iran. T4 genotype was the predominant strain in Iran, and the rare genotypes belonged to T2, T3, T5 (Acanthamoeba lenticulata), T6, T9, T11, T13 and T15 (Acanthamoeba jacobsi). A total of 47 unique haplotypes of T4 were identified. A parsimonious network of the sequence haplotypes demonstrated star-like feature containing haplogroups IR6 (34.1%) and IR7 (31.2%) as the most common haplotypes. In accordance with the analysis of molecular variance, the high value of haplotype diversity (0.612-0.848) of Acanthamoeba T4 represented genetic variability within populations. Neutrality indices of the 18S ribosomal RNA demonstrated negative values in all populations which represented a considerable divergence from neutrality. The majority of genetic diversity belonged to the infected contact lens and dust samples in immunodeficiency and ophthalmology wards, which indicated potential routes for exposure to a pathogenic Acanthamoeba sp. in at-risk individuals. A pairwise fixation index (F ST ) was from low to high values (0.02433-0.41892). The statistically F ST points out that T4 is genetically differentiated between north-west, north-south and central-south metapopulations, but not differentiated between west-central, west-south, central-south, and north-central isolates. An occurrence of IR6 and IR7 displays that possibly a gene flow of Acanthamoeba T4 occurred after the founder effect or bottleneck experience through ecological changes or host mobility. This is the first

  13. Outcomes of the 2011 Botanical Nomenclature Section at the XVIII International Botanical Congress

    Science.gov (United States)

    Miller, James S.; Funk, Vicki A.; Wagner, Warren L.; Barrie, Fred; Hoch, Peter C.; Herendeen, Patrick

    2011-01-01

    Abstract The Nomenclature Section held just before the 18th International Botanical Congress in Melbourne, Australia in July 2011 saw sweeping changes to the way scientists name new plants, algae, and fungi. The changes begin on the cover: the title was broadened to make explicit that the Code applies not only to plants, but also to algae and fungi. The new title will now be the International Code of Nomenclature of algae, fungi, and plants. For the first time in history the Code will allow for the electronic publication of names of new taxa. In an effort to make the publication of new names more accurate and efficient, the requirement for a Latin validating diagnosis or description was changed to allow either English or Latin for these essential components of the publication of a new name. Both of these latter changes will take effect on 1 January 2012. The nomenclatural rules for fungi will see several important changes, the most important of which is probably the adoption of the principle of “one fungus, one name.” Paleobotanists will also see changes with the elimination of the concept of “morphotaxa” from the Code. PMID:22171188

  14. Outcomes of the 2011 Botanical Nomenclature Section at the XVIII International Botanical Congress

    Directory of Open Access Journals (Sweden)

    James Miller

    2011-07-01

    Full Text Available The Nomenclature Section held just before the 18th International Botanical Congress in Melbourne, Australia in July 2011 saw sweeping changes to the way scientists name new plants, algae, and fungi. The changes begin on the cover: the title was broadened to make explicit that the Code applies not only to plants, but also to algae and fungi. The new title will now be the International code for nomenclature of algae, fungi, and plants. For the first time in history the Code will allow for the electronic publication of names of new taxa. In an effort to make the publication of new names more accurate and efficient, the requirement for a Latin validating diagnosis or description was changed to allow either English or Latin for these essential components of the publication of a new name. Both of these latter changes will take effect on 1 January 2012. The nomenclatural rules for fungi will see several important changes, the most important of which is probably the adoption of the principle of “one fungus, one name.” Paleobotanists will also see changes with the elimination of the concept of “morphotaxa” from the Code.

  15. Outcomes of the 2011 Botanical Nomenclature Section at the XVIII International Botanical Congress.

    Science.gov (United States)

    Miller, James S; Funk, Vicki A; Wagner, Warren L; Barrie, Fred; Hoch, Peter C; Herendeen, Patrick

    2011-01-01

    The Nomenclature Section held just before the 18th International Botanical Congress in Melbourne, Australia in July 2011 saw sweeping changes to the way scientists name new plants, algae, and fungi. The changes begin on the cover: the title was broadened to make explicit that the Code applies not only to plants, but also to algae and fungi. The new title will now be the International Code of Nomenclature of algae, fungi, and plants. For the first time in history the Code will allow for the electronic publication of names of new taxa. In an effort to make the publication of new names more accurate and efficient, the requirement for a Latin validating diagnosis or description was changed to allow either English or Latin for these essential components of the publication of a new name. Both of these latter changes will take effect on 1 January 2012. The nomenclatural rules for fungi will see several important changes, the most important of which is probably the adoption of the principle of "one fungus, one name." Paleobotanists will also see changes with the elimination of the concept of "morphotaxa" from the Code.

  16. Definitions of Normal Liver Fat and the Association of Insulin Sensitivity with Acquired and Genetic NAFLD—A Systematic Review

    Directory of Open Access Journals (Sweden)

    Elina M. Petäjä

    2016-04-01

    Full Text Available Non-alcoholic fatty liver disease (NAFLD covers a spectrum of disease ranging from simple steatosis (NAFL to non-alcoholic steatohepatitis (NASH and fibrosis. “Obese/Metabolic NAFLD” is closely associated with obesity and insulin resistance and therefore predisposes to type 2 diabetes and cardiovascular disease. NAFLD can also be caused by common genetic variants, the patatin-like phospholipase domain-containing 3 (PNPLA3 or the transmembrane 6 superfamily member 2 (TM6SF2. Since NAFL, irrespective of its cause, can progress to NASH and liver fibrosis, its definition is of interest. We reviewed the literature to identify data on definition of normal liver fat using liver histology and different imaging tools, and analyzed whether NAFLD caused by the gene variants is associated with insulin resistance. Histologically, normal liver fat content in liver biopsies is most commonly defined as macroscopic steatosis in less than 5% of hepatocytes. In the population-based Dallas Heart Study, the upper 95th percentile of liver fat measured by proton magnetic spectroscopy (1H-MRS in healthy subjects was 5.6%, which corresponds to approximately 15% histological liver fat. When measured by magnetic resonance imaging (MRI-based techniques such as the proton density fat fraction (PDFF, 5% macroscopic steatosis corresponds to a PDFF of 6% to 6.4%. In contrast to “Obese/metabolic NAFLD”, NAFLD caused by genetic variants is not associated with insulin resistance. This implies that NAFLD is heterogeneous and that “Obese/Metabolic NAFLD” but not NAFLD due to the PNPLA3 or TM6SF2 genetic variants predisposes to type 2 diabetes and cardiovascular disease.

  17. Accounting for genetic and environmental confounds in associations between parent and child characteristics: a systematic review of children-of-twins studies.

    Science.gov (United States)

    McAdams, Tom A; Neiderhiser, Jenae M; Rijsdijk, Fruhling V; Narusyte, Jurgita; Lichtenstein, Paul; Eley, Thalia C

    2014-07-01

    Parental psychopathology, parenting style, and the quality of intrafamilial relationships are all associated with child mental health outcomes. However, most research can say little about the causal pathways underlying these associations. This is because most studies are not genetically informative and are therefore not able to account for the possibility that associations are confounded by gene-environment correlation. That is, biological parents not only provide a rearing environment for their child, but also contribute 50% of their genes. Any associations between parental phenotype and child phenotype are therefore potentially confounded. One technique for disentangling genetic from environmental effects is the children-of-twins (COT) method. This involves using data sets comprising twin parents and their children to distinguish genetic from environmental associations between parent and child phenotypes. The COT technique has grown in popularity in the last decade, and we predict that this surge in popularity will continue. In the present article we explain the COT method for those unfamiliar with its use. We present the logic underlying this approach, discuss strengths and weaknesses, and highlight important methodological considerations for researchers interested in the COT method. We also cover variations on basic COT approaches, including the extended-COT method, capable of distinguishing forms of gene-environment correlation. We then present a systematic review of all the behavioral COT studies published to date. These studies cover such diverse phenotypes as psychosis, substance abuse, internalizing, externalizing, parenting, and marital difficulties. In reviewing this literature, we highlight past applications, identify emergent patterns, and suggest avenues for future research. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  18. Origins, genetic structure, and systematics of the narrow endemic peatmosses (Sphagnum): S. guwassanense and S. triseriporum (Sphagnaceae).

    Science.gov (United States)

    Shaw, A Jonathan; Shaw, Blanka; Johnson, Matthew G; Higuchi, Masanobu; Arikawa, Tomotsugu; Ueno, Takeshi; Devos, Nicolas

    2013-06-01

    Sphagnum dominates vast expanses of wetland habitats throughout the northern hemisphere and species delimitation within the genus is important because floristic changes associated with a warming global climate may have measureable impacts on large-scale ecological processes. Most northern hemisphere peatmoss species (Sphagnum) have circumboreal ranges, but the Japanese species generally known as S. calymmatophyllum is endemic to Honshu Island. This prompted a population genetic and phylogenetic analysis to resolve the origin(s), population structure, and phylogenetic relationships of this morphologically variable species. • Sixty plants collected from Mt. Gassan and Mt. Hakkoda were genotyped for 12 microsatellite loci. Two plastid loci and three anonymous nuclear loci were sequenced in a subset of the plants, plus representatives from 10 closely related species. • Gametophytes exhibited fixed or nearly fixed heterozygosity at 9-10 of the 12 microsatellite loci. Two genetic groups were resolved by the microsatellite data, individuals showed no evidence of admixture, and the two groups of plants differ in morphology. They are heterozygous for different sets of alleles. The two taxa share plastid DNA sequences with two species that are common in Alaska. • Two taxa were distinguished: S. guwassanense and S. triseriporum. Both are allopolyploids; they originated independently from different but closely related progenitors. The maternal progenitor was likely either S. orientale or S. inexspectatum. The two allopolyploid taxa are heterozygous for (different) private microsatellite alleles, and one progenitor could be extinct.

  19. Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

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    Yanqun Liu

    Full Text Available BACKGROUND: Germline defects of mismatch repair (MMR genes underlie Lynch Syndrome (LS. We aimed to gain comprehensive genetic and epigenetic profiles of LS families in Singapore, which will facilitate efficient molecular diagnosis of LS in Singapore and the region. METHODS: Fifty nine unrelated families were studied. Mutations in exons, splice-site junctions and promoters of five MMR genes were scanned by high resolution melting assay followed by DNA sequencing, large fragment deletions/duplications and promoter methylation in MLH1, MSH2, MSH6 and PMS2 were evaluated by multiplex ligation-dependent probe amplification. Tumor microsatellite instability (MSI was assessed with five mononucleotide markers and immunohistochemical staining (IHC was also performed. RESULTS: Pathogenic defects, all confined to MLH1 and MSH2, were identified in 17 out of 59 (28.8% families. The mutational spectrum was highly heterogeneous and 28 novel variants were identified. One recurrent mutation in MLH1 (c.793C>T was also observed. 92.9% sensitivity for indication of germline mutations conferred by IHC surpassed 64.3% sensitivity by MSI. Furthermore, 15.6% patients with MSS tumors harbored pathogenic mutations. CONCLUSIONS: Among major ethnic groups in Singapore, all pathogenic germline defects were confined to MLH1 and MSH2. Caution should be applied when the Amsterdam criteria and consensus microsatellite marker panel recommended in the revised Bethesda guidelines are applied to the local context. We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes.

  20. A nomenclature for vertebral fossae in sauropods and other saurischian dinosaurs.

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    Jeffrey A Wilson

    Full Text Available BACKGROUND: The axial skeleton of extinct saurischian dinosaurs (i.e., theropods, sauropodomorphs, like living birds, was pneumatized by epithelial outpocketings of the respiratory system. Pneumatic signatures in the vertebral column of fossil saurischians include complex branching chambers within the bone (internal pneumaticity and large chambers visible externally that are bounded by neural arch laminae (external pneumaticity. Although general aspects of internal pneumaticity are synapomorphic for saurischian subgroups, the individual internal pneumatic spaces cannot be homologized across species or even along the vertebral column, due to their variability and absence of topographical landmarks. External pneumatic structures, in contrast, are defined by ready topological landmarks (vertebral laminae, but no consistent nomenclatural system exists. This deficiency has fostered confusion and limited their use as character data in phylogenetic analysis. METHODOLOGY/PRINCIPAL FINDINGS: We present a simple system for naming external neural arch fossae that parallels the one developed for the vertebral laminae that bound them. The nomenclatural system identifies fossae by pointing to reference landmarks (e.g., neural spine, centrum, costal articulations, zygapophyses. We standardize the naming process by creating tripartite names from "primary landmarks," which form the zygodiapophyseal table, "secondary landmarks," which orient with respect to that table, and "tertiary landmarks," which further delineate a given fossa. CONCLUSIONS/SIGNIFICANCE: The proposed nomenclatural system for lamina-bounded fossae adds clarity to descriptions of complex vertebrae and allows these structures to be sourced as character data for phylogenetic analyses. These anatomical terms denote potentially homologous pneumatic structures within Saurischia, but they could be applied to any vertebrate with vertebral laminae that enclose spaces, regardless of their developmental

  1. Does the name really matter? The importance of botanical nomenclature and plant taxonomy in biomedical research.

    Science.gov (United States)

    Bennett, Bradley C; Balick, Michael J

    2014-03-28

    Medical research on plant-derived compounds requires a breadth of expertise from field to laboratory and clinical skills. Too often basic botanical skills are evidently lacking, especially with respect to plant taxonomy and botanical nomenclature. Binomial and familial names, synonyms and author citations are often misconstrued. The correct botanical name, linked to a vouchered specimen, is the sine qua non of phytomedical research. Without the unique identifier of a proper binomial, research cannot accurately be linked to the existing literature. Perhaps more significant, is the ambiguity of species determinations that ensues of from poor taxonomic practices. This uncertainty, not surprisingly, obstructs reproducibility of results-the cornerstone of science. Based on our combined six decades of experience with medicinal plants, we discuss the problems of inaccurate taxonomy and botanical nomenclature in biomedical research. This problems appear all too frequently in manuscripts and grant applications that we review and they extend to the published literature. We also review the literature on the importance of taxonomy in other disciplines that relate to medicinal plant research. In most cases, questions regarding orthography, synonymy, author citations, and current family designations of most plant binomials can be resolved using widely-available online databases and other electronic resources. Some complex problems require consultation with a professional plant taxonomist, which also is important for accurate identification of voucher specimens. Researchers should provide the currently accepted binomial and complete author citation, provide relevant synonyms, and employ the Angiosperm Phylogeny Group III family name. Taxonomy is a vital adjunct not only to plant-medicine research but to virtually every field of science. Medicinal plant researchers can increase the precision and utility of their investigations by following sound practices with respect to botanical

  2. Collating and Curating Neuroanatomical Nomenclatures: Principles and Use of the Brain Architecture Knowledge Management System (BAMS).

    Science.gov (United States)

    Bota, Mihail; Swanson, Larry W

    2010-01-01

    Terms used to describe nervous system parts and their interconnections are rife with synonyms, partial correspondences, and even homonyms, making effective scientific communication unnecessarily difficult. To address this problem a new Topological Relations schema for the Relations module of BAMS (Brain Architecture Knowledge Management System) was created. It includes a representation of the qualitative spatial relations between nervous system parts defined in different neuroanatomical nomenclatures or atlases and is general enough to record data and metadata from the literature, regardless of description level or species. Based on this foundation a Projections Translations inference engine was developed for the BAMS interface that automatically translates neuroanatomical projection (axonal inputs and outputs) reports across nomenclatures from translated information. To make BAMS more useful to the neuroscience community three things were done. First, we implemented a simple schema for validation of the translated neuroanatomical projections. Second, more than 1,000 topological relations between brain gray matter regions for the rat were inserted, along with associated details. Finally, a case study was performed to enter all historical or legacy published information about terminology related to one relatively complex gray matter region of the rat. The bed nuclei of the stria terminalis (BST) were chosen and 21 different nomenclatures from 1923 to present were collated, along with 284 terms for parts (gray matter differentiations), 360 qualitative topological relations between parts, and more than 7,000 details about spatial relations between parts, all of which was annotated with appropriate metadata. This information was used to construct a graphical "knowledge map" of relations used in the literature to describe subdivisions of the rat BST.

  3. Systematic genetic array analysis links the Saccharomyces cerevisiae SAGA/SLIK and NuA4 component Tra1 to multiple cellular processes

    Directory of Open Access Journals (Sweden)

    Andrews Brenda

    2008-07-01

    Full Text Available Abstract Background Tra1 is an essential 437-kDa component of the Saccharomyces cerevisiae SAGA/SLIK and NuA4 histone acetyltransferase complexes. It is a member of a group of key signaling molecules that share a carboxyl-terminal domain related to phosphatidylinositol-3-kinase but unlike many family members, it lacks kinase activity. To identify genetic interactions for TRA1 and provide insight into its function we have performed a systematic genetic array analysis (SGA on tra1SRR3413, an allele that is defective in transcriptional regulation. Results The SGA analysis revealed 114 synthetic slow growth/lethal (SSL interactions for tra1SRR3413. The interacting genes are involved in a range of cellular processes including gene expression, mitochondrial function, and membrane sorting/protein trafficking. In addition many of the genes have roles in the cellular response to stress. A hierarchal cluster analysis revealed that the pattern of SSL interactions for tra1SRR3413 most closely resembles deletions of a group of regulatory GTPases required for membrane sorting/protein trafficking. Consistent with a role for Tra1 in cellular stress, the tra1SRR3413 strain was sensitive to rapamycin. In addition, calcofluor white sensitivity of the strain was enhanced by the protein kinase inhibitor staurosporine, a phenotype shared with the Ada components of the SAGA/SLIK complex. Through analysis of a GFP-Tra1 fusion we show that Tra1 is principally localized to the nucleus. Conclusion We have demonstrated a genetic association of Tra1 with nuclear, mitochondrial and membrane processes. The identity of the SSL genes also connects Tra1 with cellular stress, a result confirmed by the sensitivity of the tra1SRR3413 strain to a variety of stress conditions. Based upon the nuclear localization of GFP-Tra1 and the finding that deletion of the Ada components of the SAGA complex result in similar phenotypes as tra1SRR3413, we suggest that the effects of tra1SRR3413

  4. Enriching the international clinical nomenclature with Chinese daily used synonyms and concept recognition in physician notes.

    Science.gov (United States)

    Zhang, Rui; Liu, Jialin; Huang, Yong; Wang, Miye; Shi, Qingke; Chen, Jun; Zeng, Zhi

    2017-05-02

    It has been shown that the entities in everyday clinical text are often expressed in a way that varies from how they are expressed in the nomenclature. Owing to lots of synonyms, abbreviations, medical jargons or even misspellings in the daily used physician notes in clinical information system (CIS), the terminology without enough synonyms may not be adequately suitable for the task of Chinese clinical term recognition. This paper demonstrates a validated system to retrieve the Chinese term of clinical finding (CTCF) from CIS and map them to the corresponding concepts of international clinical nomenclature, such as SNOMED CT. The system focuses on the SNOMED CT with Chinese synonyms enrichment (SCCSE). The literal similarity and the diagnosis-related similarity metrics were used for concept mapping. Two CTCF recognition methods, the rule- and terminology-based approach (RTBA) and the conditional random field machine learner (CRF), were adopted to identify the concepts in physician notes. The system was validated against the history of present illness annotated by clinical experts. The RTBA and CRF could be combined to predict new CTCFs besides SCCSE persistently. Around 59,000 CTCF candidates were accepted as valid and 39,000 of them occurred at least once in the history of present illness. 3,729 of them were accordant with the description in referenced Chinese clinical nomenclature, which could cross map to other international nomenclature such as SNOMED CT. With the hybrid similarity metrics, another 7,454 valid CTCFs (synonyms) were succeeded in concept mapping. For CTCF recognition in physician notes, a series of experiments were performed to find out the best CRF feature set, which gained an F-score of 0.887. The RTBA achieved a better F-score of 0.919 by the CTCF dictionary created in this research. This research demonstrated that it is feasible to help the SNOMED CT with Chinese synonyms enrichment based on physician notes in CIS. With continuous

  5. American Clinical Neurophysiology Society Guideline 2: Guidelines for Standard Electrode Position Nomenclature.

    Science.gov (United States)

    Acharya, Jayant N; Hani, Abeer; Cheek, Janna; Thirumala, Partha; Tsuchida, Tammy N

    2016-08-01

    This revision to the EEG Guidelines is an update incorporating current electroencephalography technology and practice and was previously published as Guideline 5. While the 10-10 system of electrode position nomenclature has been accepted internationally for almost two decades, it has not been used universally. The reasons for this and clinical scenarios when the 10-10 system provides additional localizing information are discussed in this revision. In addition, situations in which AF1/2, AF5/6, PO1/2 and PO5/6 electrode positions may be utilized for EEG recording are discussed.

  6. A proposal of a standardised nomenclature for terminal minute sister chromatid exchanges

    Directory of Open Access Journals (Sweden)

    Máximo E. Drets

    2006-01-01

    Full Text Available We described spontaneous minute sister chromatid exchanges (SCE in telomeric regions of human and Chinese hamster ovary (CHO chromosomes more than 10 years ago. These structures, which we called t-SCE, were detected by means of highly precise quantitative microphotometrical scanning and computer graphic image analysis. Recently, several authors using the CO-FISH method also found small SCEs in telomeric regions and called them T-SCE. The use of different terms for designating the same phenomenon should be avoided. We propose ter SCE as a uniform nomenclature for minute telomeric SCEs.

  7. "Just as the Structural Formula Does": Names, Diagrams, and the Structure of Organic Chemistry at the 1892 Geneva Nomenclature Congress.

    Science.gov (United States)

    Hepler-Smith, Evan

    2015-02-01

    At the Geneva Nomenclature Congress of 1892, some of the foremost organic chemists of the late nineteenth century crafted a novel relationship between chemical substances, chemical diagrams, and chemical names that has shaped practices of chemical representation ever since. During the 1880s, the French chemist Charles Friedel organised the nomenclature reform effort that culminated in the Geneva Congress; in the disorderly nomenclature of German synthetic chemistry, Friedel saw an opportunity to advance French national interests and his own pedagogical goals. Friedel and a group of close colleagues reconceived nomenclature as a unified field, in which all chemical names ought to relate clearly to one another and to the structure of the compounds they represented. The German chemist Adolf von Baeyer went a step farther, arguing for names that precisely and uniquely corresponded to the structural formula of each compound, tailored for use in chemical dictionaries and handbooks. Baeyer's vision prevailed at the Geneva Congress, which consequently codified rules for rigorously mapping structural formulas into names, resulting in names that faithfully represented the features of these diagrams but not always the chemical behaviour of the compounds themselves. This approach ultimately limited both the number of chemical compounds that the Geneva rules were able to encompass and the breadth of their application. However, the relationship between diagram and name established at the Geneva Congress became the foundation not only of subsequent systems of chemical nomenclature but of methods of organising information that have supported the modern chemical sciences.

  8. Proposals to clarify and enhance the naming of fungi under the International Code of Nomenclature for algae, fungi, and plants.

    Science.gov (United States)

    Hawksworth, David L

    2015-06-01

    Twenty-three proposals to modify the International Code of Nomenclature for algae, fungi, and plants adopted in 2011 with respect to the provisions for fungi are made, in accordance with the wishes of mycologists expressed at the 10(th) International Mycological Congress in Bangkok in 2014, and with the support of the International Commission on the Taxonomy of Fungi (ICTF), the votes of which are presented here. The proposals relate to: conditions for epitypification, registration of later typifications, protected lists of names, removal of exemptions for lichen-forming fungi, provision of a diagnosis when describing a new taxon, citation of sanctioned names, avoiding homonyms in other kingdoms, ending preference for sexually typified names, and treatment of conspecific names with the same epithet. These proposals are also being published in Taxon, will be considered by the Nomenclature Committee for Fungi and General Committee on Nomenclature, and voted on at the 19(th) International Botanical Congress in Shenzhen, China, in 2017.

  9. Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11).

    Science.gov (United States)

    Franklin, Rodney C G; Béland, Marie J; Colan, Steven D; Walters, Henry L; Aiello, Vera D; Anderson, Robert H; Bailliard, Frédérique; Boris, Jeffrey R; Cohen, Meryl S; Gaynor, J William; Guleserian, Kristine J; Houyel, Lucile; Jacobs, Marshall L; Juraszek, Amy L; Krogmann, Otto N; Kurosawa, Hiromi; Lopez, Leo; Maruszewski, Bohdan J; St Louis, James D; Seslar, Stephen P; Srivastava, Shubhika; Stellin, Giovanni; Tchervenkov, Christo I; Weinberg, Paul M; Jacobs, Jeffrey P

    2017-12-01

    An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists". In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the "short list" for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses

  10. A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model.

    Science.gov (United States)

    Neupane, Jitesh; Vandewoestyne, Mado; Heindryckx, Björn; Ghimire, Sabitri; Lu, Yuechao; Qian, Chen; Lierman, Sylvie; Van Coster, Rudy; Gerris, Jan; Deroo, Tom; Deforce, Dieter; De Sutter, Petra

    2014-04-01

    What is the reliability of preimplantation genetic diagnosis (PGD) based on polar body (PB), blastomere or trophectoderm (TE) analysis in a heteroplasmic mitochondrial mouse model? The reliability of PGD to determine the level of mitochondrial DNA (mtDNA) heteroplasmy is questionable based on either the first or second PB analysis; however, PGD based on blastomere or TE analysis seems more reliable. PGD has been suggested as a technique to determine the level of mtDNA heteroplasmy in oocytes and embryos to avoid the transmission of heritable mtDNA disorders. A strong correlation between first PBs and oocytes and between second PBs and zygotes was reported in mice but is controversial in humans. So far, the levels of mtDNA heteroplasmy in first PBs, second PBs and their corresponding oocytes, zygotes and blastomeres, TE and blastocysts have not been analysed within the same embryo. We explored the suitability of PGD by comparing the level of mtDNA heteroplasmy between first PBs and metaphase II (MII) oocytes (n = 33), between first PBs, second PBs and zygotes (n = 30), and between first PBs, second PBs and their corresponding blastomeres of 2- (n = 10), 4- (n = 10) and 8-cell embryos (n = 11). Levels of mtDNA heteroplasmy in second PBs (n = 20), single blastomeres from 8-cell embryos (n = 20), TE (n = 20) and blastocysts (n = 20) were also compared. Heteroplasmic mice (BALB/cOlaHsd), containing mtDNA mixtures of BALB/cByJ and NZB/OlaHsd, were used in this study. The first PBs were biopsied from in vivo matured MII oocytes. The ooplasm was then subjected to ICSI. After fertilization, second PBs were biopsied and zygotes were cultured to recover individual blastomeres from 2-, 4- and 8-cell embryos. Similarly, second PBs were biopsied from in vivo fertilized zygotes and single blastomeres were biopsied from 8-cell stage embryos. The remaining embryo was cultured until the blastocyst stage to isolate TE cells. Polymerase chain reaction followed by restriction fragment

  11. Nom et lumière: enlightenment through nomenclature (the 1996 Kenneth F. Russell Memorial Lecture).

    Science.gov (United States)

    Pearn, J

    1997-08-01

    The classification of living things is both an acknowledgement of biological relationships and an identification of their differences. When Linnaeus, in 1735, published Systema Naturae, he set in place a system of biological classification that saw its apogee in the invention of binomial nomenclature: the description of every living thing being embodied simply in two names, (i.e. a genus and the species within it). Linnaeus built on the work of scientific forebears, of whom Nehemiah Grew (1641-1712) was one of the most influential. Grew was a surgeon-physician whose passionate interest was plant anatomy; his work led to the discovery and documentation of sexual dimorphism in plants. Grew's life and works are a witness to that philosophy which views nature as a continuum, a broad holistic entity in which discoveries in one biological field have ramifications in other areas. Grew allowed his scientific curiosity full rein, manifested the courage to publish his work and possessed the self-discipline to stand by the audit of his peers. Modern biological research and contemporary clinical practice owes much to the enlightenment engendered by the classification and nomenclature that developed from his work.

  12. A proposal to rationalize within-species plant virus nomenclature: benefits and implications of inaction.

    Science.gov (United States)

    Jones, Roger A C; Kehoe, Monica A

    2016-07-01

    Current approaches used to name within-species, plant virus phylogenetic groups are often misleading and illogical. They involve names based on biological properties, sequence differences and geographical, country or place-association designations, or any combination of these. This type of nomenclature is becoming increasingly unsustainable as numbers of sequences of the same virus from new host species and different parts of the world increase. Moreover, this increase is accelerating as world trade and agriculture expand, and climate change progresses. Serious consequences for virus research and disease management might arise from incorrect assumptions made when current within-species phylogenetic group names incorrectly identify properties of group members. This could result in development of molecular tools that incorrectly target dangerous virus strains, potentially leading to unjustified impediments to international trade or failure to prevent such strains being introduced to countries, regions or continents formerly free of them. Dangerous strains might be missed or misdiagnosed by diagnostic laboratories and monitoring programs, and new cultivars with incorrect strain-specific resistances released. Incorrect deductions are possible during phylogenetic analysis of plant virus sequences and errors from strain misidentification during molecular and biological virus research activities. A nomenclature system for within-species plant virus phylogenetic group names is needed which avoids such problems. We suggest replacing all other naming approaches with Latinized numerals, restricting biologically based names only to biological strains and removing geographically based names altogether. Our recommendations have implications for biosecurity authorities, diagnostic laboratories, disease-management programs, plant breeders and researchers.

  13. Correcting systematic inflation in genetic association tests that consider interaction effects: application to a genome-wide association study of posttraumatic stress disorder.

    Science.gov (United States)

    Almli, Lynn M; Duncan, Richard; Feng, Hao; Ghosh, Debashis; Binder, Elisabeth B; Bradley, Bekh; Ressler, Kerry J; Conneely, Karen N; Epstein, Michael P

    2014-12-01

    Genetic association studies of psychiatric outcomes often consider interactions with environmental exposures and, in particular, apply tests that jointly consider gene and gene-environment interaction effects for analysis. Using a genome-wide association study (GWAS) of posttraumatic stress disorder (PTSD), we report that heteroscedasticity (defined as variability in outcome that differs by the value of the environmental exposure) can invalidate traditional joint tests of gene and gene-environment interaction. To identify the cause of bias in traditional joint tests of gene and gene-environment interaction in a PTSD GWAS and determine whether proposed robust joint tests are insensitive to this problem. The PTSD GWAS data set consisted of 3359 individuals (978 men and 2381 women) from the Grady Trauma Project (GTP), a cohort study from Atlanta, Georgia. The GTP performed genome-wide genotyping of participants and collected environmental exposures using the Childhood Trauma Questionnaire and Trauma Experiences Inventory. We performed joint interaction testing of the Beck Depression Inventory and modified PTSD Symptom Scale in the GTP GWAS. We assessed systematic bias in our interaction analyses using quantile-quantile plots and genome-wide inflation factors. Application of the traditional joint interaction test to the GTP GWAS yielded systematic inflation across different outcomes and environmental exposures (inflation-factor estimates ranging from 1.07 to 1.21), whereas application of the robust joint test to the same data set yielded no such inflation (inflation-factor estimates ranging from 1.01 to 1.02). Simulated data further revealed that the robust joint test is valid in different heteroscedasticity models, whereas the traditional joint test is invalid. The robust joint test also has power similar to the traditional joint test when heteroscedasticity is not an issue. We believe the robust joint test should be used in candidate-gene studies and GWASs of

  14. Critical analysis and systematization of rat pancreatectomy terminology.

    Science.gov (United States)

    Eulálio, José Marcus Raso; Bon-Habib, Assad Charbel Chequer; Soares, Daiane de Oliveira; Corrêa, Paulo Guilherme Antunes; Pineschi, Giovana Penna Firme; Diniz, Victor Senna; Manso, José Eduardo Ferreira; Schanaider, Alberto

    2016-10-01

    To critically analyze and standardize the rat pancreatectomy nomenclature variants. It was performed a review of indexed manuscripts in PUBMED from 01/01/1945 to 31/12/2015 with the combined keywords "rat pancreatectomy" and "rat pancreas resection". The following parameters was considered: A. Frequency of publications; B. Purpose of the pancreatectomy in each article; C. Bibliographic references; D. Nomenclature of techniques according to the pancreatic parenchyma resection percentage. Among the 468, the main objectives were to surgically induce diabetes and to study the genes regulations and expressions. Five rat pancreatectomy technique references received 15 or more citations. Twenty different terminologies were identified for the pancreas resection: according to the resected parenchyma percentage (30 to 95%); to the procedure type (total, subtotal and partial); or based on the selected anatomical region (distal, longitudinal and segmental). A nomenclature systematization was gathered by cross-checking information between the main surgical techniques, the anatomic parameters descriptions and the resected parenchyma percentages. The subtotal pancreatectomy nomenclature for parenchymal resection between 80 and 95% establishes a surgical parameter that also defines the total and partial pancreatectomy limits and standardizes these surgical procedures in rats.

  15. Report on corrections and future considerations for Appendices II–VIII of the International Code of Nomenclature for Algae, Fungi, and Plants

    Science.gov (United States)

    For the first time, the main text and Appendices II–VIII of the International Code of Nomenclature were separately published following decisions of the Melbourne Nomenclature Section, which contributed to subsequent development of an online resource capable of producing the Appendices in real time. ...

  16. The Importance of Systematics

    Indian Academy of Sciences (India)

    1999-02-18

    Feb 18, 1999 ... Similarly, the work of Nathan Charles Rothschild, a taxonomic authority on flea species, was responsible for the discovery ... The use of genetic data for taxonomic purposes also brings systematics closer to realizing Darwin's desire that classification should reflect evolutionary relationships. Systematics is.

  17. Genetic variants of SLC11A1 are associated with both autoimmune and infectious diseases: systematic review and meta-analysis.

    Science.gov (United States)

    Archer, N S; Nassif, N T; O'Brien, B A

    2015-06-01

    A systematic review and meta-analyses were undertaken to investigate the association of SLC11A1 genetic variants with disease occurrence. Literature searching indentified 109 publications to include in the meta-analyses assessing the association of 11 SLC11A1 variants with autoimmune and infectious disease. The (GT)n promoter alleles 2 and 3 (rs534448891), which alter SLC11A1 expression, were significantly associated with tuberculosis (OR=1.47 (1.30-1.66), OR=0.76 (0.65-0.89), respectively) and infectious disease (OR=1.25 (1.10-1.42), OR=0.83 (0.74-0.93), respectively). However, although no association was observed with autoimmune disease, a modest significant association was observed with type 1 diabetes (allele 2 OR=0.94 (0.89-0.98)). On the basis of a stronger association of (GT)n allele 2 with tuberculosis, compared with the protective effect of allele 3, we hypothesise that allele 2 is likely the disease-causing variant influencing disease susceptibility. Significant associations were observed between the 469+14G/C polymorphism (rs3731865) and autoimmune disease (OR=1.30 (1.04-1.64)) and rheumatoid arthritis (OR=1.60 (1.20-2.13)) and between the -237C/T polymorphism (rs7573065) and inflammatory bowel disease (OR=0.60 (0.43-0.84)). Further, significant associations were identified between the 469+14G/C, 1730G/A and 1729+55del4 polymorphisms (rs3731865, rs17235409 and rs17235416, respectively) and both infectious disease per se and tuberculosis. These findings show a clear association between variants in the SLC11A1 locus and autoimmune and infectious disease susceptibility.

  18. Synopsis of proposals on botanical nomenclature – Shenzhen 2017: A review of the proposals concerning the International Code of Nomenclature for algae, fungi, and plants submitted to the XIX International Botanical Congress

    Science.gov (United States)

    Science requires a precise, stable, and simple system of nomenclature used by scientists in all countries of the world, dealing on the one hand with the terms that denote the ranks of taxonomic groups, and on the other with the scientific names that are applied to the individual taxonomic units of a...

  19. A more rapid approach to systematically assessing published associations of genetic polymorphisms and disease risk: type 2 diabetes as a test case

    Directory of Open Access Journals (Sweden)

    Cho AH

    2012-01-01

    Full Text Available Alex H Cho1, Xiaolei Jiang2, Devin M Mann3, Kensaku Kawamoto4, Timothy J Robinson5, Nancy Wang6, Jeanette J McCarthy2, Mark Woodward7, Geoffrey S Ginsburg1,21Center for Personalized Medicine and Department of Medicine, Duke University, Durham, NC, 2Institute for Genome Sciences and Policy, Duke University, Durham, NC, 3Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, Boston, MA, 4Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, 5Medical College of Virginia, Richmond, VA, 6School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA; 7George Institute for Global Health and University of Sydney, AustraliaBackground: Comparative effectiveness research and research in genomic medicine are not orthogonal pursuits. Both require a robust evidence base, and each stands to benefit from applying the methods of the other. There is an exponentially growing literature reporting associations between single nucleotide polymorphisms (SNPs and increased risk for diseases such as type 2 diabetes. Literature-based meta-analysis is an important method of assessing the validity of published gene-disease associations, but a traditional emphasis on exhaustiveness makes it difficult to study multiple polymorphisms efficiently. Here we describe a novel two-step search method for broadly yet systematically reviewing the literature to identify the "most-studied" gene-disease associations, thereby selecting those with a high possibility of replication on which to conduct abbreviated, simultaneous meta-analyses. This method was then applied to identify and evaluate the validity of SNPs reported to be associated with increased type 2 diabetes risk, to demonstrate proof of principle.Methods: A two-step MEDLINE search (1950 to present was conducted in September 2007 for published genetic association data related to SNPs associated with risk of type 2 diabetes. The

  20. Genetics and acronyms

    Directory of Open Access Journals (Sweden)

    Giovanni Corsello

    2014-06-01

    Full Text Available In a global society as the present, the nomenclature and terminology of diseases must be universally accepted among the specialists. This sentence is particularly true in some fields of medicine, as genetics, in which the progress of knowledge has been particularly rapid in last years.Many genetic disorders were termed using the names of the doctor (or the doctors who discovered and described them.The name of doctors and specialist were also frequently used to term sign and symptoms of diseases, including genetic syndromes.More rarely, a new disease received the name of the first patients described.In some cases the authors clearly proposed acronyms, that rapidly diffused as a good method to term genetic diseases and syndromes.Acronyms can be originated from the initial of main signs and symptoms; in some instances the acronym reproduces a word with other kind of semantic suggestions; some acronyms in their list of initials show also numbers, while others show also the initial of the words related to the physiopathology of disease.In more recent years acronyms were proposed to mark multicentric studies. Proceedings of the 10th International Workshop on Neonatology · Cagliari (Italy · October 22nd-25th, 2014 · The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou

  1. Diploids of the Valeriana officinalis group (Valerianaceae) in Central Europe, and an attempt to unravel the nomenclatural chaos

    Czech Academy of Sciences Publication Activity Database

    Kirschner, Jan; Zeisek, Vojtěch

    2017-01-01

    Roč. 47, č. 3 (2017), s. 189-201 ISSN 0511-9618 R&D Projects: GA ČR GB14-36079G Institutional support: RVO:67985939 Keywords : Valeriana officinalis * taxonomy * nomenclature Subject RIV: EF - Botanics OBOR OECD: Plant sciences, botany Impact factor: 0.680, year: 2016

  2. Circumscription and nomenclature of Hiraea barclayana, H. reclinata, and H. ternifolia (Malpighiaceae), and of seven species misassigned to them

    NARCIS (Netherlands)

    Anderson, C.

    2016-01-01

    A review of collections from Mexico to northern South America that had been primarily determined as H. barclayana, H. reclinata, and H. ternifolia, or synonyms, showed them to include ten species. Misinterpretations were caused by superficial morphological similarities and traditional nomenclatural

  3. Biologically relevant oxidants and terminology, classification and nomenclature of oxidatively generated damage to nucleobases and 2-deoxyribose in nucleic acids

    DEFF Research Database (Denmark)

    Cadet, Jean; Loft, Steffen; Olinski, Ryszard

    2012-01-01

    A broad scientific community is involved in investigations aimed at delineating the mechanisms of formation and cellular processing of oxidatively generated damage to nucleic acids. Perhaps as a consequence of this breadth of research expertise, there are nomenclature problems for several of the ...

  4. Anatomy of the Volar Retinacular Elements of the Hand: A Unified Nomenclature.

    Science.gov (United States)

    Godfrey, Jenna; Rayan, Ghazi M

    2018-03-01

    Many investigators have described the anatomy of the volar retinacular structures of the hand over the last 60 years. As a result, multiple terms have been assigned to 1 anatomical structure and 1 name designated to more than 1 structure. Our purpose is to review the detailed anatomy and key components of the volar retinacular elements of the hand, their etymology, and their most recent descriptions. The objective also is to organize these structures into systems, which can be helpful for learners to assimilate into a practical anatomical guide. Lastly, the goal is to create a common nomenclature for identifying the volar retinacular structures of the hand in order to facilitate clear communication about them across languages. Copyright © 2018 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  5. A Standard Nomenclature for Referencing and Authentication of Pluripotent Stem Cells.

    Science.gov (United States)

    Kurtz, Andreas; Seltmann, Stefanie; Bairoch, Amos; Bittner, Marie-Sophie; Bruce, Kevin; Capes-Davis, Amanda; Clarke, Laura; Crook, Jeremy M; Daheron, Laurence; Dewender, Johannes; Faulconbridge, Adam; Fujibuchi, Wataru; Gutteridge, Alexander; Hei, Derek J; Kim, Yong-Ou; Kim, Jung-Hyun; Kokocinski, Anja Kolb-; Lekschas, Fritz; Lomax, Geoffrey P; Loring, Jeanne F; Ludwig, Tenneille; Mah, Nancy; Matsui, Tohru; Müller, Robert; Parkinson, Helen; Sheldon, Michael; Smith, Kelly; Stachelscheid, Harald; Stacey, Glyn; Streeter, Ian; Veiga, Anna; Xu, Ren-He

    2018-01-09

    Unambiguous cell line authentication is essential to avoid loss of association between data and cells. The risk for loss of references increases with the rapidity that new human pluripotent stem cell (hPSC) lines are generated, exchanged, and implemented. Ideally, a single name should be used as a generally applied reference for each cell line to access and unify cell-related information across publications, cell banks, cell registries, and databases and to ensure scientific reproducibility. We discuss the needs and requirements for such a unique identifier and implement a standard nomenclature for hPSCs, which can be automatically generated and registered by the human pluripotent stem cell registry (hPSCreg). To avoid ambiguities in PSC-line referencing, we strongly urge publishers to demand registration and use of the standard name when publishing research based on hPSC lines. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  6. Nomenclature and principle of neutron humidistats design and methods of their checking

    International Nuclear Information System (INIS)

    Chaladze, A.P.; Melkumyan, V.E.

    1980-01-01

    The state of neutron hydrometry in ferrous metallurgy is considered. The nomenclature and technical characteristics of neutron humidistats and methods of their testing are presented as well as the local testing diagram for imitator certification and the testing of devices. Taking into account the design, neutron humidistats can be classified into two- and three-channel. As regards their structural realization, humidistats are classified into devices of the external type designed for measuring humidity in technological capacities and devices of the superposition type, designed for measuring the humidity of the material on a moving conveyer. The design of imitators for all types of humidistats is similar, that is the use of neutron retarders and absorbers, displaced relatively to each other [ru

  7. Review of nomenclature revision of fibro-ossous lesions in the maxillofacial region

    International Nuclear Information System (INIS)

    Lee, Byung Do

    2007-01-01

    Fibro-osseous lesions are composed of connective tissue and varying amount of mineralized substances, which may be bony or cementum-like structures. It is necessary for oral radiologist to differentiate due to the tendency of these fibro-osseous lesions to show similar histopathologic appearances, while the management of each lesion is different. However we often encounter a little difficulty in judgement because there are some overlaps between concept of each lesions. So recently I suggest, we face a need to review basic concept and classification of several fibro-osseous jaw lesions. In this article, several fibro-osseous lesions, such as fibrous dysplasia, cemento-ossifying fibroma and cemento-osseous dysplasia, will be discussed basing on the review of literature. Particular emphasis will be made on the nomenclature revision of WHO's classification in 1992

  8. Proposal for a common nomenclature for fragment ions in mass spectra of lipids

    DEFF Research Database (Denmark)

    Pauling, Josch K; Hermansson, Martin; Hartler, Jürgen

    2017-01-01

    Advances in mass spectrometry-based lipidomics have in recent years prompted efforts to standardize the annotation of the vast number of lipid molecules that can be detected in biological systems. These efforts have focused on cataloguing, naming and drawing chemical structures of intact lipid...... molecules, but have provided no guidelines for annotation of lipid fragment ions detected using tandem and multi-stage mass spectrometry, albeit these fragment ions are mandatory for structural elucidation and high confidence lipid identification, especially in high throughput lipidomics workflows. Here we...... propose a nomenclature for the annotation of lipid fragment ions, describe its implementation and present a freely available web application, termed ALEX123 lipid calculator, that can be used to query a comprehensive database featuring curated lipid fragmentation information for more than 430...

  9. ExplorEnz: a MySQL database of the IUBMB enzyme nomenclature.

    Science.gov (United States)

    McDonald, Andrew G; Boyce, Sinéad; Moss, Gerard P; Dixon, Henry B F; Tipton, Keith F

    2007-07-27

    We describe the database ExplorEnz, which is the primary repository for EC numbers and enzyme data that are being curated on behalf of the IUBMB. The enzyme nomenclature is incorporated into many other resources, including the ExPASy-ENZYME, BRENDA and KEGG bioinformatics databases. The data, which are stored in a MySQL database, preserve the formatting of chemical and enzyme names. A simple, easy to use, web-based query interface is provided, along with an advanced search engine for more complex queries. The database is publicly available at http://www.enzyme-database.org. The data are available for download as SQL and XML files via FTP. ExplorEnz has powerful and flexible search capabilities and provides the scientific community with the most up-to-date version of the IUBMB Enzyme List.

  10. A Standard Nomenclature for Referencing and Authentication of Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Andreas Kurtz

    2018-01-01

    Full Text Available Unambiguous cell line authentication is essential to avoid loss of association between data and cells. The risk for loss of references increases with the rapidity that new human pluripotent stem cell (hPSC lines are generated, exchanged, and implemented. Ideally, a single name should be used as a generally applied reference for each cell line to access and unify cell-related information across publications, cell banks, cell registries, and databases and to ensure scientific reproducibility. We discuss the needs and requirements for such a unique identifier and implement a standard nomenclature for hPSCs, which can be automatically generated and registered by the human pluripotent stem cell registry (hPSCreg. To avoid ambiguities in PSC-line referencing, we strongly urge publishers to demand registration and use of the standard name when publishing research based on hPSC lines.

  11. Review of nomenclature revision of fibro-ossous lesions in the maxillofacial region

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Byung Do [Wonkwang Univ. School of Dentistry, Iksan (Korea, Republic of)

    2007-03-15

    Fibro-osseous lesions are composed of connective tissue and varying amount of mineralized substances, which may be bony or cementum-like structures. It is necessary for oral radiologist to differentiate due to the tendency of these fibro-osseous lesions to show similar histopathologic appearances, while the management of each lesion is different. However we often encounter a little difficulty in judgement because there are some overlaps between concept of each lesions. So recently I suggest, we face a need to review basic concept and classification of several fibro-osseous jaw lesions. In this article, several fibro-osseous lesions, such as fibrous dysplasia, cemento-ossifying fibroma and cemento-osseous dysplasia, will be discussed basing on the review of literature. Particular emphasis will be made on the nomenclature revision of WHO's classification in 1992.

  12. A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.

    Science.gov (United States)

    Hart, Reece K; Rico, Rudolph; Hare, Emily; Garcia, John; Westbrook, Jody; Fusaro, Vincent A

    2015-01-15

    Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society (HGVS). Despite the widespread use of the standard, no freely available and comprehensive programming libraries are available. Here we report an open-source and easy-to-use Python library that facilitates the parsing, manipulation, formatting and validation of variants according to the HGVS specification. The current implementation focuses on the subset of the HGVS recommendations that precisely describe sequence-level variation relevant to the application of high-throughput sequencing to clinical diagnostics. The package is released under the Apache 2.0 open-source license. Source code, documentation and issue tracking are available at http://bitbucket.org/hgvs/hgvs/. Python packages are available at PyPI (https://pypi.python.org/pypi/hgvs). Supplementary data are available at Bioinformatics online. © The Author 2014. Published by Oxford University Press.

  13. The effect of communicating the genetic risk of cardiometabolic disorders on motivation and actual engagement in preventative lifestyle modification and clinical outcome: a systematic review and meta-analysis of randomised controlled trials.

    Science.gov (United States)

    Li, Sherly X; Ye, Zheng; Whelan, Kevin; Truby, Helen

    2016-09-01

    Genetic risk prediction of chronic conditions including obesity, diabetes and CVD currently has limited predictive power but its potential to engage healthy behaviour change has been of immense research interest. We aimed to understand whether the latter is indeed true by conducting a systematic review and meta-analysis investigating whether genetic risk communication affects motivation and actual behaviour change towards preventative lifestyle modification. We included all randomised controlled trials (RCT) since 2003 investigating the impact of genetic risk communication on health behaviour to prevent cardiometabolic disease, without restrictions on age, duration of intervention or language. We conducted random-effects meta-analyses for perceived motivation for behaviour change and clinical changes (weight loss) and a narrative analysis for other outcomes. Within the thirteen studies reviewed, five were vignette studies (hypothetical RCT) and seven were clinical RCT. There was no consistent effect of genetic risk on actual motivation for weight loss, perceived motivation for dietary change (control v. genetic risk group standardised mean difference (smd) -0·15; 95 % CI -1·03, 0·73, P=0·74) or actual change in dietary behaviour. Similar results were observed for actual weight loss (control v. high genetic risk SMD 0·29 kg; 95 % CI -0·74, 1·31, P=0·58). This review found no clear or consistent evidence that genetic risk communication alone either raises motivation or translates into actual change in dietary intake or physical activity to reduce the risk of cardiometabolic disorders in adults. Of thirteen studies, eight were at high or unclear risk of bias. Additional larger-scale, high-quality clinical RCT are warranted.

  14. The O3-Vet project: integration of a standard nomenclature of clinical terms in a veterinary electronic medical record for veterinary hospitals.

    Science.gov (United States)

    Zaninelli, M; Campagnoli, A; Reyes, M; Rojas, V

    2012-11-01

    In order to improve the hospital information system of the Chilean University Hospital, the Veterinary Medicine School of Universidad de Chile made a research cooperation with Università San Raffaele Roma to develop and test a new release of the O3-Vet software application. O3-Vet was selected by the Chilean University mainly for two reasons: (1) it uses human medicine standardized technologies such as "Health Level 7" (HL7) and "Integrating the Healthcare Enterprise" (IHE), which allow a good level of data sharing and hospital management; (2) it is open source, which means it can be adapted to specific hospital needs. In the new release, a subset of diagnostic terms was added from the "Systematized Nomenclature of Medicine Clinical Terms" (SNOMED CT), selected by the "American Animal Hospital Association" (AAHA) to standardize the filing of clinical data and its retrieval. Results from a limited survey of veterinarians of the University (n=9) show that the new release improved the management of the Chilean University Hospital and the ability to retrieve useful clinical data. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  15. Review and resolution of some nomenclatural issues regarding the genus Psoroptes (Acari: Psoroptidae), scab-mites of domestic and wild mammals.

    Science.gov (United States)

    OConnor, Barry M; Klimov, Pavel B

    2015-07-01

    Some classifications recognize a number of species in the scab-mite genus, Psoroptes, mites that are of considerable importance in livestock production and veterinary medicine. However, modern studies suggest that populations from some host species are not morphologically or genetically distinct, creating taxonomic confusion with older names, which treated mites from different hosts as separate species. We review the taxonomy and nomenclature of the genus and the two oldest binomens, most recently known as Psoroptes ovis and Psoroptes equi. Prior authors have attributed these names to various authorities, with most attributing both names to Hering (Nova Acta Phys-Med Acad Caesar Leopold-Carol Nat Curios 18(2):573-624, 1838). In particular, the priority between these names was recently a point of contention, with P. ovis being treated as junior synonym of P. equi. A review of all relevant nineteenth and twentieth century publications indicates, however, that these binomens should be cited as P. ovis (Viborg in Veterinair-Selskabets Skrifter 2:139-152, 1813) and P. equi (Raspail in Bull gener Theraput Med Chir 7:169-184, 1834), with the former having priority over the latter assuming their conspecificity. We also clarify attribution of the authorship and the type species of the genus Psoroptes.

  16. Land tortoise types in the Rijksmuseum van Natuurlijke Historie with comments on nomenclature and systematic (Reptilia: Testudines: Testudinidae)

    NARCIS (Netherlands)

    Hoogmoed, M.S.; Crumly, C.R.

    1984-01-01

    The holotype of Testudo vosmaeri Fitzinger, 1826 [= Geochelone vosmaeri] is RMNH 6001. The holotype of Testudo forstenii Schlegel & Müller, 1840 [= lndotestudo forstenii] is RMNH 3811. I. forstenii is considered a senior synonym of T. travancorica Boulenger, 1907 because plastral colour pattern,

  17. Fungal nomenclature evolving: changes adopted by the 19th International Botanical Congress in Shenzhen 2017, and procedures for the Fungal Nomenclature Session at the 11th International Mycological Congress in Puerto Rico 2018.

    Science.gov (United States)

    Hawksworth, David L; May, Tom W; Redhead, Scott A

    2017-12-01

    This article summarizes the key changes in the rules relating to the nomenclature of fungi made at the XIX International Botanical Congress in Shenzhen, China, in July 2017. Most significant was the decision to transfer decision-making on matters related only to the naming of fungi from International Botanical to International Mycological Congresses (IMCs). The rules relating to fungi are to be grouped together in a separate section of the International Code of Nomenclature for algae, fungi, and plants (ICN). The way in which the Fungal Nomenclature Session will operate at the upcoming IMC in Puerto Rico in 2018 is summarized and the timetable for new proposals is presented. In addition, approval for names included on lists of protected names to be protected against unlisted as well as known competing names were passed, as were some simplifications relating to the naming of pleomorphic fungi. From 1 January 2019, it will also be necessary to deposit details of lecto-, neo-, and epitypifications in one of the recognized repositories of fungal names in order for them to be validly published and to establish their priority. Various aspects relating to typifications were referred to a new Special Committee, with a separate Special Subcommittee charged with addressing the issue of using DNA sequences as types for all groups covered by the ICN. It is anticipated that the Shenzhen Code will be published in the first half of 2018.

  18. Reinforcing the foundations of ornithological nomenclature: Filling the gaps in Sherborn's and Richmond's historical legacy of bibliographic exploration.

    Science.gov (United States)

    Dickinson, Edward C

    2016-01-01

    Due to its public popularity, ornithology has a huge corpus of scientific publication for a relatively small number of species. Although there are global checklists of currently recognised taxa, there has been only limited, mainly individual, effort to build a nomenclatural database that the science of ornithology deserves. This is especially true in relation to concise synonymies. With the arrival of ZooBank and the Biodiversity Heritage Library, the time has come to develop synonymies and to add fuller bibliographic detail to databases. The preparation for both began at the start of the 20(th) century with extensive work by Sherborn and Richmond. I discuss their legacy, offer notes on significant work since then, and provide suggestions for what remains to be done. To make solid the foundations for ornithological nomenclature and taxonomy, especially for synonymies, ornithologists will need to collaborate much more and contribute to the digital infrastructure.

  19. Report of the First International Consensus on Standardized Nomenclature of Antinuclear Antibody HEp-2 Cell Patterns (ICAP) 2014-2015

    OpenAIRE

    Chan, Edward K L; Damoiseaux, Jan; Carballo, Orlando Gabriel; Conrad, Karsten; de Melo Cruvinel, Wilson; Francescantonio, Paulo Luiz Carvalho; Fritzler, Marvin J.; Garcia-De La Torre, Ignacio; Herold, Manfred; Mimori, Tsuneyo; Satoh, Minoru; von Mühlen, Carlos A.; Andrade, Luis E C

    2015-01-01

    During the 12th International Workshop on Autoantibodies and Autoimmunity held in Sao Paulo, Brazil, on August 28, 2014, a full day session was devoted to establishing a consensus on the nomenclature of staining patterns observed in the antinuclear antibody (ANA) indirect immunofluorescence test on HEp-2 cells. The current report summarizes the collective agreements with input from the host Brazilian and international communities that represented research, clinical, and diagnostic service lab...

  20. Improving nomenclatural consistency: a decade of experience in the World Register of Marine Species

    Directory of Open Access Journals (Sweden)

    Tammy Horton

    2017-12-01

    Full Text Available The World Register of Marine species (WoRMS has been established for a decade. The early history of the database involved compilation of existing global and regional species registers. This aggregation, combined with changes to data types and the changing needs of WoRMS users, has resulted in an evolution of data-entry consistency over time. With the task of aggregating the accepted species names for all marine species approaching completion, our focus has shifted to improving the consistency and quality of data held while keeping pace with the addition of > 2000 new marine species described annually. This paper defines priorities and longer-term aims that promote standardisation within and interoperability among biodiversity databases, provides editors with further information on how to input nomenclatural data in a standardised way and clarifies for users of WoRMS how and why names are represented as they are. We 1 explain the categories of names included; 2 list standard reasons used to explain why a name is considered ‘unaccepted’ or ‘uncertain’; 3 present and explain the more difficult situations encountered; 4 describe categories of sources and notes linked to a taxon; and 5 recommend how type material, type locality and environmental information should be entered.

  1. Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference.

    Science.gov (United States)

    Ezzedine, K; Lim, H W; Suzuki, T; Katayama, I; Hamzavi, I; Lan, C C E; Goh, B K; Anbar, T; Silva de Castro, C; Lee, A Y; Parsad, D; van Geel, N; Le Poole, I C; Oiso, N; Benzekri, L; Spritz, R; Gauthier, Y; Hann, S K; Picardo, M; Taieb, A

    2012-05-01

    During the 2011 International Pigment Cell Conference (IPCC), the Vitiligo European Taskforce (VETF) convened a consensus conference on issues of global importance for vitiligo clinical research. As suggested by an international panel of experts, the conference focused on four topics: classification and nomenclature; definition of stable disease; definition of Koebner's phenomenon (KP); and 'autoimmune vitiligo'. These topics were discussed in seven working groups representing different geographical regions. A consensus emerged that segmental vitiligo be classified separately from all other forms of vitiligo and that the term 'vitiligo' be used as an umbrella term for all non-segmental forms of vitiligo, including 'mixed vitiligo' in which segmental and non-segmental vitiligo are combined and which is considered a subgroup of vitiligo. Further, the conference recommends that disease stability be best assessed based on the stability of individual lesions rather than the overall stability of the disease as the latter is difficult to define precisely and reliably. The conference also endorsed the classification of KP for vitiligo as proposed by the VETF (history based, clinical observation based, or experimentally induced). Lastly, the conference agreed that 'autoimmune vitiligo' should not be used as a separate classification as published evidence indicates that the pathophysiology of all forms of vitiligo likely involves autoimmune or inflammatory mechanisms. © 2012 John Wiley & Sons A/S.

  2. Casimer Funk, nonconformist nomenclature, and networks surrounding the discovery of vitamins.

    Science.gov (United States)

    Maltz, Alesia

    2013-07-01

    In the 2 decades between when the existence of vitamins was first postulated and when they were isolated, scientists and research physicians could produce no conclusive evidence for their existence from the laboratory or clinic. By the time the first vitamin was chemically isolated, vitamins were already widely accepted by scientists, clinicians, the public, and government agencies. In the period between when vitamins were postulated and the Nobel Prize was awarded for their discovery, a debate over nomenclature served as a substitute for a priority dispute. The most popular term "vitamine" was introduced by Casimer Funk in 1912 and was changed to "vitamin" by Cecil Drummond in 1920. Initial conditions surrounding the discovery of vitamins, including World War I, necessitated the creation of unusual networks for the dissemination of scientific information about vitamins. In Great Britain, research institutes, government agencies, and individual researchers were instrumental in creating a set of national and international networks for the dissemination of information from research laboratories to hospitals, physicians, pharmaceutical houses, and the public. These networks of dissemination still exert an influence on how scientific information about vitamins is communicated to the public today.

  3. The tribe Acutalini Fowler (Homoptera, Membracidae, Smiliinae: new genera, new species and some nomenclatural changes

    Directory of Open Access Journals (Sweden)

    Albino M Sakakibara

    1997-09-01

    Full Text Available The tribe Acutalini Fowler is redescribed as well as the genera Acutalis Fairmaire, Euritea Stål, and Thrasymedes Kirkaldy. The following new taxa and nomenclatural changes are presented: Thrasymedes mexicana sp.n. (from Mexico, Oaxaca; Bordonia gen.n., with B. venezuelana sp.n. (type-species (from Venezuela, Portachuelo, B. clypeata sp.n. (from Colombia, Cuesta Boba, B. majuscula sp.n. (from Venezuela, Portachuelo, and Cornutalis gen.n., with C. cauca sp.n. (type-species (from Colombia, Cauca, and C. validu sp.n. (from Ecuador, Sto. Domingo. Acutalis fusconervosa Fairmaire, 1846 = Horiola venosa Walker, 1858, syn.n.; Euritea munda (Walker, 1858 = Stictolobus nitidus Funkhouser, 1940, syn.n.; Bordonia nigricosta (Goding, 1926, comb.n.; Bordonia virescens (Funkhouser, 1940, comb.n.. One species is transferred to Smiliinae-Ceresini: Tapinolobus curvispina (Walker, 1858, comb.n. (formerly in Thrasymedes = Tapinolobus fasciatus Sakakibara, 1969, syn.n.; another one is transferred to Darninae-Cymbomorphini: Eumela darnioides (Walker, 1858, comb.n. (formerly in Euritea.

  4. MIRD Pamphlet No. 21: A Generalized Schema for Radiopharmaceutical Dosimetry-Standardization of Nomenclature

    International Nuclear Information System (INIS)

    Bolch, W.E.; Eckerman, Keith F.; Sgouros, George; Thomas, Steven R.

    2009-01-01

    The internal dosimetry schema of the Medical Internal Radiation Dose (MIRD) Committee of the Society of Nuclear Medicine has provided a broad framework for assessment of the absorbed dose to whole organs, tissue subregions, voxelized tissue structures, and individual cellular compartments for use in both diagnostic and therapeutic nuclear medicine. The schema was originally published in 1968, revised in 1976, and republished in didactic form with comprehensive examples as the MIRD primer in 1988 and 1991. The International Commission on Radiological Protection (ICRP) is an organization that also supplies dosimetric models and technical data, for use in providing recommendations for limits on ionizing radiation exposure to workers and members of the general public. The ICRP has developed a dosimetry schema similar to that of the MIRD Committee but has used different terminology and symbols for fundamental quantities such as the absorbed fraction, specific absorbed fraction, and various dose coefficients. The MIRD Committee objectives for this pamphlet are 3-fold: to restate its schema for assessment of absorbed dose in a manner consistent with the needs of both the nuclear medicine and the radiation protection communities, with the goal of standardizing nomenclature; to formally adopt the dosimetry quantities equivalent dose and effective dose for use in comparative evaluations of potential risks of radiation-induced stochastic effects to patients after nuclear medicine procedures; and to discuss the need to identify dosimetry quantities based on absorbed dose that address deterministic effects relevant to targeted radionuclide therapy.

  5. Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference

    Science.gov (United States)

    Ezzedine, K.; Lim, H. W.; Suzuki, T.; Katayama, I.; Hamzavi, I.; Lan, C. C. E.; Goh, B. K.; Anbar, T.; de Castro, C. Silva; Lee, A. Y.; Parsad, D.; van Geel, N.; Le Poole, I. C.; Oiso, N.; Benzekri, L.; Spritz, R.; Gauthier, Y.; Hann, S. K.; Picardo, M.; Taieb, A.

    2012-01-01

    Summary During the 2011 International Pigment Cell Conference (IPCC), the Vitiligo European Taskforce (VETF) convened a consensus conference on issues of global importance for vitiligo clinical research. As suggested by an international panel of experts, the conference focused on four topics: classification and nomenclature; definition of stable disease; definition of Koebner’s phenomenon (KP); and ‘autoimmune vitiligo’. These topics were discussed in seven working groups representing different geographical regions. A consensus emerged that segmental vitiligo be classified separately from all other forms of vitiligo and that the term ‘vitiligo’ be used as an umbrella term for all non-segmental forms of vitiligo, including ‘mixed vitiligo’ in which segmental and non-segmental vitiligo are combined and which is considered a subgroup of vitiligo. Further, the conference recommends that disease stability be best assessed based on the stability of individual lesions rather than the overall stability of the disease as the latter is difficult to define precisely and reliably. The conference also endorsed the classification of KP for vitiligo as proposed by the VETF (history based, clinical observation based, or experimentally induced). Lastly, the conference agreed that ‘autoimmune vitiligo’ should not be used as a separate classification as published evidence indicates that the pathophysiology of all forms of vitiligo likely involves autoimmune or inflammatory mechanisms. PMID:22417114

  6. Spectrum of gluten-related disorders: consensus on new nomenclature and classification

    Directory of Open Access Journals (Sweden)

    Sapone Anna

    2012-02-01

    Full Text Available Abstract A decade ago celiac disease was considered extremely rare outside Europe and, therefore, was almost completely ignored by health care professionals. In only 10 years, key milestones have moved celiac disease from obscurity into the popular spotlight worldwide. Now we are observing another interesting phenomenon that is generating great confusion among health care professionals. The number of individuals embracing a gluten-free diet (GFD appears much higher than the projected number of celiac disease patients, fueling a global market of gluten-free products approaching $2.5 billion (US in global sales in 2010. This trend is supported by the notion that, along with celiac disease, other conditions related to the ingestion of gluten have emerged as health care concerns. This review will summarize our current knowledge about the three main forms of gluten reactions: allergic (wheat allergy, autoimmune (celiac disease, dermatitis herpetiformis and gluten ataxia and possibly immune-mediated (gluten sensitivity, and also outline pathogenic, clinical and epidemiological differences and propose new nomenclature and classifications.

  7. The impacts of the discontinuation of dual nomenclature of pleomorphic fungi: the trivial facts, problems, and strategies.

    Science.gov (United States)

    Braun, Uwe

    2012-06-01

    The symposium "One fungus = Which name" held in Amsterdam 12-13 April 2012, addressed the drastic changes in the naming of pleomorphic fungi adopted by the 18(th) International Botanical Congress in Melbourne in 2011. Possible solutions and ways to face resulting problems were suggested. The fundamental change is that under the new rules fungi in future will be treated nomenclaturally like plants and all other groups of organisms ruled by the ICN, i.e. with one correct name for each species. Numerous discussions and statements during the Symposium reflected widespread anxieties that these rules could negatively influence taxonomic work on pleomorphic fungi. However, they are groundless, being based on misunderstandings and confusion of nomenclature and taxonomy. With pleomorphic fungi, taxonomists will in future have to answer the question whether different morphs can represent one fungus (taxon), but this remains a taxonomic decision and has nothing to do with nomenclature. Furthermore, the ICN does not and cannot rule on how this decision is made. Thus it cannot provide rules based solely on methods involving morphology in vivo or in vitro, molecular analyses, physiological and biochemical data, inoculation experiments in pathogenic groups or any other methods or combinations of them. It is up to the taxonomist to select appropriate methods and to decide which data are sufficient to introduce new taxa. Some future problems and strategies around the application of anamorph- and teleomoph-typified taxon names (genera and species), are discussed here, using the recently monographed powdery mildews (Erysiphales) as an example.

  8. Sponge systematics facing new challenges.

    Science.gov (United States)

    Cárdenas, P; Pérez, T; Boury-Esnault, N

    2012-01-01

    Systematics is nowadays facing new challenges with the introduction of new concepts and new techniques. Compared to most other phyla, phylogenetic relationships among sponges are still largely unresolved. In the past 10 years, the classical taxonomy has been completely overturned and a review of the state of the art appears necessary. The field of taxonomy remains a prominent discipline of sponge research and studies related to sponge systematics were in greater number in the Eighth World Sponge Conference (Girona, Spain, September 2010) than in any previous world sponge conferences. To understand the state of this rapidly growing field, this chapter proposes to review studies, mainly from the past decade, in sponge taxonomy, nomenclature and phylogeny. In a first part, we analyse the reasons of the current success of this field. In a second part, we establish the current sponge systematics theoretical framework, with the use of (1) cladistics, (2) different codes of nomenclature (PhyloCode vs. Linnaean system) and (3) integrative taxonomy. Sponges are infamous for their lack of characters. However, by listing and discussing in a third part all characters available to taxonomists, we show how diverse characters are and that new ones are being used and tested, while old ones should be revisited. We then review the systematics of the four main classes of sponges (Hexactinellida, Calcispongiae, Homoscleromorpha and Demospongiae), each time focusing on current issues and case studies. We present a review of the taxonomic changes since the publication of the Systema Porifera (2002), and point to problems a sponge taxonomist is still faced with nowadays. To conclude, we make a series of proposals for the future of sponge systematics. In the light of recent studies, we establish a series of taxonomic changes that the sponge community may be ready to accept. We also propose a series of sponge new names and definitions following the PhyloCode. The issue of phantom species

  9. Lectotype designations and nomenclatural changes in Xylographus Mellié (Coleoptera, Ciidae

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    Vivian E. Sandoval-Gómez

    2014-01-01

    Full Text Available We designate lectotypes and propose nomenclatural changes in Xylographus Mellié (Coleoptera, Ciidae based on type specimens deposited in the Museum of Comparative Zoology (USA, Museum für Naturkunde Berlin (Germany, the Natural History Museum (UK, Muséum d’Histoire Naturelle de la Ville de Genève (Switzerland, Muséum National d’Histoire Naturelle (France, Naturhistoriska Riksmuseet (Sweden and Naturhistorisches Museum Wien (Austria. We designate lectotypes for the following species: Cis fultoni Broun, 1886, Xylographus anthracinus Mellié, 1849, X. bicolor Pic, 1916, X. brasiliensis Pic, 1916, X. ceylonicus Ancey, 1876, X. contractus Mellié, 1849, X. corpulentus Mellié, 1849, X. dentatus Pic, 1922, X. gibbus Mellié, 1849, X. hypocritus Mellié, 1849, X. javanus Pic, 1937, X. lemoulti Pic, 1916, X. longicollis Pic, 1922, X. madagascariensis Mellié, 1849, X. nitidissimus Pic, 1916, X. perforatus Gerstaecker, 1871, X. porcus Gorham, 1886, X. punctatus Mellié, 1849, X. ritsemai Pic, 1921, X. rufescens Pic, 1921, X. rufipennis Pic, 1934, X. rufipes Pic, 1930, X. seychellensis Scott, 1926, X. subopacus Pic, 1929, X. subsinuatus Pic, 1916, X. suillus Gorham, 1886, X. testaceitarsis Pic, 1916 and X. tomicoides Reitter, 1902. We propose the following syn. n. (senior synonym listed first: X. anthracinus = X. testaceitarsis, X. brasiliensis = X. lucasi Lopes-Andrade & Zacaro, X. corpulentus = X. lemoulti and X. richardi Mellié, X. madagascariensis = X. eichelbaumi Reitter, X. rufipennis, X. seychellensis Scott and X. tarsalis Fåhraeus, X. nitidissimus = X. longicollis, X. subsinuatus = X. rufescens. We exclude three species from Xylographus: Cis renominatus, nom.n. (for X. dentatus Pic, 1922, not C. dentatus Mellié, 1849, Paratrichapus fultoni (Broun, 1886, comb. n. and P. javanus (Pic, 1937, comb. n.

  10. Patient Safety in Medication Nomenclature: Orthographic and Semantic Properties of International Nonproprietary Names.

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    Rachel Bryan

    Full Text Available Confusion between look-alike and sound-alike (LASA medication names (such as mercaptamine and mercaptopurine accounts for up to one in four medication errors, threatening patient safety. Error reduction strategies include computerized physician order entry interventions, and 'Tall Man' lettering. The purpose of this study is to explore the medication name designation process, to elucidate properties that may prime the risk of confusion.We analysed the formal and semantic properties of 7,987 International Non-proprietary Names (INNs, in relation to naming guidelines of the World Health Organization (WHO INN programme, and have identified potential for errors. We explored: their linguistic properties, the underlying taxonomy of stems to indicate pharmacological interrelationships, and similarities between INNs. We used Microsoft Excel for analysis, including calculation of Levenshtein edit distance (LED. Compliance with WHO naming guidelines was inconsistent. Since the 1970s there has been a trend towards compliance in formal properties, such as word length, but longer names published in the 1950s and 1960s are still in use. The stems used to show pharmacological interrelationships are not spelled consistently and the guidelines do not impose an unequivocal order on them, making the meanings of INNs difficult to understand. Pairs of INNs sharing a stem (appropriately or not often have high levels of similarity (<5 LED, and thus have greater potential for confusion.We have revealed a tension between WHO guidelines stipulating use of stems to denote meaning, and the aim of reducing similarities in nomenclature. To mitigate this tension and reduce the risk of confusion, the stem system should be made clear and well ordered, so as to avoid compounding the risk of confusion at the clinical level. The interplay between the different WHO INN naming principles should be further examined, to better understand their implications for the problem of LASA

  11. Pāhoehoe, `a`ā, and block lava: an illustrated history of the nomenclature

    Science.gov (United States)

    Harris, Andrew J. L.; Rowland, Scott K.; Villeneuve, Nicolas; Thordarson, Thor

    2017-01-01

    Lava flows occur worldwide, and throughout history, various cultures (and geologists) have described flows based on their surface textures. As a result, surface morphology-based nomenclature schemes have been proposed in most languages to aid in the classification and distinction of lava surface types. One of the first to be published was likely the nine-class, Italian-language description-based classification proposed by Mario Gemmellaro in 1858. By far, the most commonly used terms to describe lava surfaces today are not descriptive but, instead, are merely words, specifically the Hawaiian words `a`ā (rough brecciated basalt lava) and pāhoehoe (smooth glassy basalt lava), plus block lava (thick brecciated lavas that are typically more silicic than basalt). `A`ā and pāhoehoe were introduced into the Western geological vocabulary by American geologists working in Hawai`i during the 1800s. They and other nineteenth century geologists proposed formal lava-type classification schemes for scientific use, and most of them used the Hawaiian words. In 1933, Ruy Finch added the third lava type, block lava, to the classification scheme, with the tripartite system being formalized in 1953 by Gordon Macdonald. More recently, particularly since the 1980s and based largely on studies of lava flow interiors, a number of sub-types and transitional forms of all three major lava types have been defined. This paper reviews the early history of the development of the pāhoehoe, `a`ā, and block lava-naming system and presents a new descriptive classification so as to break out the three parental lava types into their many morphological sub-types.

  12. Regulatory RNAs in the Less Studied Streptococcal Species: from Nomenclature to Identification

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    Mohamed Amine Zorgani

    2016-07-01

    Full Text Available Streptococcal species are Gram-positive bacteria involved in severe and invasive diseases in humans and animals. Although this group includes different pathogenic species involved in life-threatening infections for humans, it also includes beneficial species, such as Streptococcus thermophilus, which is used in yogurt production. In bacteria virulence factors are controlled by various regulatory networks including regulatory RNAs. For clearness and to develop logical thinking, we start this review with a revision of regulatory RNAs nomenclature. Previous reviews are mostly dealing with Streptococcus pyogenes and Streptococcus pneumoniae regulatory RNAs. We especially focused our analysis on regulatory RNAs in Streptococcus agalactiae, Streptococcus mutans, Streptococcus thermophilus and other less studied Streptococcus species. Although S. agalactiae RNome remains largely unknown, sRNAs (small RNAs are supposed to mediate regulation during environmental adaptation and host infection. In the case of S. mutans, sRNAs are suggested to be involved in competence regulation, carbohydrate metabolism and Toxin-Antitoxin systems. A new category of miRNA-size small RNAs (msRNAs was also identified for the first time in this species. The analysis of S. thermophilus sRNome shows that many sRNAs are associated to the bacterial immune system known as CRISPR-Cas system. Only few of the other different Streptococcus species have been the subject of studies pointed toward the characterization of regulatory RNAs. Finally, understanding bacterial sRNome can constitute one step forward to the elaboration of new strategies in therapy such as substitution of antibiotics in the management of S. agalactiae neonatal infections, prevention of S. mutans dental caries or use of S. thermophilus CRISPR-Cas system in genome editing applications.

  13. Accounting for genetic and environmental confounds in associations between parent and child characteristics : a systematic review of children-of-twins studies

    OpenAIRE

    McAdams, Tom A; Neiderhiser, Jenae M; Rijsdijk, Fruhling V; Narusyte, Jurgita; Lichtenstein, Paul; Eley, Thalia C

    2014-01-01

    Parental psychopathology, parenting style, and the quality of intrafamilial relationships are all associated with child mental health outcomes. However, most research can say little about the causal pathways underlying these associations. This is because most studies are not genetically informative and are therefore not able to account for the possibility that associations are confounded by gene-environment correlation. That is, biological parents not only provide a rearing environment for th...

  14. Annotated checklist of the recent and extinct pythons (Serpentes, Pythonidae), with notes on nomenclature, taxonomy, and distribution

    Science.gov (United States)

    Schleip, Wulf D.; O’Shea, Mark

    2010-01-01

    Abstract McDiarmid et al. (1999) published the first part of their planned taxonomic catalog of the snakes of the world. Since then, several new python taxa have been described in both the scientific literature and non-peer-reviewed publications. This checklist evaluates the nomenclatural status of the names and discusses the taxonomic status of the new taxa, and aims to continue the work of McDiarmid et al. (1999) for the family Pythonidae, covering the period 1999 to 2010. Numerous new taxa are listed, and where appropriate recent synonymies are included and annotations are made. A checklist and a taxonomic identification key of valid taxa are provided. PMID:21594030

  15. A review of the Palaearctic species of Larinus Dejean (Coleoptera: Curculionidae in C. J. Schoenherr collection: nomenclature and lectotype designations

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    Levent Gültekin

    2015-06-01

    Full Text Available The syntypes of 41 species of Larinus Dejean described by L. Gyllenhal and C. H. Boheman, housed at the C. J. Schoenherr collection in the Swedish Museum of Natural History, Stockholm and the Museum of Evolution, Uppsala University, are examined. Lectotypes are designated, a nomenclatural review performed, many previous synonyms confirmed and three new synonyms proposed: Larinus planus (Fabricius, 1792 (= Larinus rusticanus Gyllenhal, 1835 syn. nov.; Larinus carlinae (Olivier, 1807 (= Larinus sulphurifer Boheman, 1843 syn. nov.; Larinus minutus Gyllenhal, 1835 (= Larinus puncticollis Capiomont, 1874 syn. nov.. Colour images for 15 lectotypes are presented.

  16. Impact of e-publication changes in the International Code of Nomenclature for algae, fungi and plants (Melbourne Code, 2012) - did we need to "run for our lives"?

    Science.gov (United States)

    Nicolson, Nicky; Challis, Katherine; Tucker, Allan; Knapp, Sandra

    2017-05-25

    At the Nomenclature Section of the XVIII International Botanical Congress in Melbourne, Australia (IBC), the botanical community voted to allow electronic publication of nomenclatural acts for algae, fungi and plants, and to abolish the rule requiring Latin descriptions or diagnoses for new taxa. Since the 1st January 2012, botanists have been able to publish new names in electronic journals and may use Latin or English as the language of description or diagnosis. Using data on vascular plants from the International Plant Names Index (IPNI) spanning the time period in which these changes occurred, we analysed trajectories in publication trends and assessed the impact of these new rules for descriptions of new species and nomenclatural acts. The data show that the ability to publish electronically has not "opened the floodgates" to an avalanche of sloppy nomenclature, but concomitantly neither has there been a massive expansion in the number of names published, nor of new authors and titles participating in publication of botanical nomenclature. The e-publication changes introduced in the Melbourne Code have gained acceptance, and botanists are using these new techniques to describe and publish their work. They have not, however, accelerated the rate of plant species description or participation in biodiversity discovery as was hoped.

  17. Phylogeny and nomenclature of the genus Talaromyces and taxa accommodated in Penicillium subgenus Biverticillium

    Science.gov (United States)

    Samson, R.A.; Yilmaz, N.; Houbraken, J.; Spierenburg, H.; Seifert, K.A.; Peterson, S.W.; Varga, J.; Frisvad, J.C.

    2011-01-01

    The taxonomic history of anamorphic species attributed to Penicillium subgenus Biverticillium is reviewed, along with evidence supporting their relationship with teleomorphic species classified in Talaromyces. To supplement previous conclusions based on ITS, SSU and/or LSU sequencing that Talaromyces and subgenus Biverticillium comprise a monophyletic group that is distinct from Penicillium at the generic level, the phylogenetic relationships of these two groups with other genera of Trichocomaceae was further studied by sequencing a part of the RPB1 (RNA polymerase II largest subunit) gene. Talaromyces species and most species of Penicillium subgenus Biverticillium sensu Pitt reside in a monophyletic clade distant from species of other subgenera of Penicillium. For detailed phylogenetic analysis of species relationships, the ITS region (incl. 5.8S nrDNA) was sequenced for the available type strains and/or representative isolates of Talaromyces and related biverticillate anamorphic species. Extrolite profiles were compiled for all type strains and many supplementary cultures. All evidence supports our conclusions that Penicillium subgenus Biverticillium is distinct from other subgenera in Penicillium and should be taxonomically unified with the Talaromyces species that reside in the same clade. Following the concepts of nomenclatural priority and single name nomenclature, we transfer all accepted species of Penicillium subgenus Biverticillium to Talaromyces. A holomorphic generic diagnosis for the expanded concept of Talaromyces, including teleomorph and anamorph characters, is provided. A list of accepted Talaromyces names and newly combined Penicillium names is given. Species of biotechnological and medical importance, such as P. funiculosum and P. marneffei, are now combined in Talaromyces. Excluded species and taxa that need further taxonomic study are discussed. An appendix lists other generic names, usually considered synonyms of Penicillium sensu lato that

  18. Systematic assessment of cervical cancer initiation and progression uncovers genetic panels for deep learning-based early diagnosis and proposes novel diagnostic and prognostic biomarkers.

    Science.gov (United States)

    Long, Nguyen Phuoc; Jung, Kyung Hee; Yoon, Sang Jun; Anh, Nguyen Hoang; Nghi, Tran Diem; Kang, Yun Pyo; Yan, Hong Hua; Min, Jung Eun; Hong, Soon-Sun; Kwon, Sung Won

    2017-12-12

    Although many outstanding achievements in the management of cervical cancer (CxCa) have obtained, it still imposes a major burden which has prompted scientists to discover and validate new CxCa biomarkers to improve the diagnostic and prognostic assessment of CxCa. In this study, eight different gene expression data sets containing 202 cancer, 115 cervical intraepithelial neoplasia (CIN), and 105 normal samples were utilized for an integrative systems biology assessment in a multi-stage carcinogenesis manner. Deep learning-based diagnostic models were established based on the genetic panels of intrinsic genes of cervical carcinogenesis as well as on the unbiased variable selection approach. Survival analysis was also conducted to explore the potential biomarker candidates for prognostic assessment. Our results showed that cell cycle, RNA transport, mRNA surveillance, and one carbon pool by folate were the key regulatory mechanisms involved in the initiation, progression, and metastasis of CxCa. Various genetic panels combined with machine learning algorithms successfully differentiated CxCa from CIN and normalcy in cross-study normalized data sets. In particular, the 168-gene deep learning model for the differentiation of cancer from normalcy achieved an externally validated accuracy of 97.96% (99.01% sensitivity and 95.65% specificity). Survival analysis revealed that ZNF281 and EPHB6 were the two most promising prognostic genetic markers for CxCa among others. Our findings open new opportunities to enhance current understanding of the characteristics of CxCa pathobiology. In addition, the combination of transcriptomics-based signatures and deep learning classification may become an important approach to improve CxCa diagnosis and management in clinical practice.

  19. [Nomenclature of Feiyang (BL 58) and its connotation exploration based on A-B Classic of Acupuncture and Moxibustion].

    Science.gov (United States)

    Feng, Shuangshuang; Hou, Zhongwei

    2018-04-12

    A - B Classic of Acupuncture and Moxibustion ( Zhen Jiu Jia Yi Jing ) is the earliest and existed well-known work on acupuncture and moxibustion, with irreplaceable literature values and huge impacts on the later generations. Feiyang (BL 58) is the luo -connecting point of the bladder meridian and recorded 11 times in A - B Classic of Acupuncture and Moxibustion . This book is the representative for the exploration on the acupoint nomenclature and clinical connotation. Through the investigation on the textual connotation of the specified terms and the alias of Feiyang (BL 58), it was discovered that the nomenclature of this acupoint was based on the main symptoms, the characters of the running course of meridian and acupuncture effects. It was proved that the unique property of this acupoint was as rising, dispersing and flying of meridian qi . In comparison of Huangdi Three - Version of A - B Classic of Acupuncture and Moxibustion ( Huangdi Sanbu Zhen Jiu Jia Yi Jing ) of the printed edition of the Song Dynasty version and Meridian - Collateral and Acupoints ( Zhen Jiu Shu Xue Xue ), it was found that the indications and connotation of Feiyang (BL 58) were more extensively richer than the records in teaching materials. Those study results contribute to the extension of the clinical application of this acupoint.

  20. Proposed stratigraphic nomenclature and macroscopic identification of lithostratigraphic units of the Paintbrush Group exposed at Yucca Mountain, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    Buesch, D.C.; Spengler, R.W.; Moyer, T.C.; Geslin, J.K.

    1996-09-01

    This paper describes the formations of the Paintbrush Group exposed at Yucca Mountain, Nevada, presents a detailed stratigraphic nomenclature for the Tiva Canyon and Topopah spring Tuffs, and discusses the criteria that define lithostratigraphic units. The Tiva Canyon and Topopah Spring Tuffs are divided into zones, subzones, and intervals on the basis of macroscopic features observed in surface exposures and borehole samples. Primary divisions reflect depositional and compositional zoning that is expressed by variations in crystal content, phenocryst assemblage, pumice content and composition, and lithic content. Secondary divisions define welding and crystlalization zones, depositional features, or fracture characteristics. Both formations are divided into crystal-rich and crystal-poor members that have an identical sequency of zones, although subzone designations vary slightly between the two units. The identified lithostratigraphic divisions can be used to approximate thermal-mechanical and hydrogeologic boundaries in the field. Linking these three systems of nomenclature provides a framework within which to correlate these properties through regions of sparse data.

  1. Proposed stratigraphic nomenclature and macroscopic identification of lithostratigraphic units of the Paintbrush Group exposed at Yucca Mountain, Nevada

    International Nuclear Information System (INIS)

    Buesch, D.C.; Spengler, R.W.; Moyer, T.C.; Geslin, J.K.

    1996-01-01

    This paper describes the formations of the Paintbrush Group exposed at Yucca Mountain, Nevada, presents a detailed stratigraphic nomenclature for the Tiva Canyon and Topopah spring Tuffs, and discusses the criteria that define lithostratigraphic units. The Tiva Canyon and Topopah Spring Tuffs are divided into zones, subzones, and intervals on the basis of macroscopic features observed in surface exposures and borehole samples. Primary divisions reflect depositional and compositional zoning that is expressed by variations in crystal content, phenocryst assemblage, pumice content and composition, and lithic content. Secondary divisions define welding and crystlalization zones, depositional features, or fracture characteristics. Both formations are divided into crystal-rich and crystal-poor members that have an identical sequency of zones, although subzone designations vary slightly between the two units. The identified lithostratigraphic divisions can be used to approximate thermal-mechanical and hydrogeologic boundaries in the field. Linking these three systems of nomenclature provides a framework within which to correlate these properties through regions of sparse data

  2. Combining morphology and genetics in resolving taxonomy--a systematic revision of spined loaches (Genus Cobitis; Cypriniformes, Actinopterygii in the Adriatic watershed.

    Directory of Open Access Journals (Sweden)

    Ivana Buj

    Full Text Available Taxonomic investigation of spined loaches from Dalmatia and Herzegovina was conducted on specimens from 14 localities. The results of the detailed morphological investigations were combined with genetic data (based on one mitochondrial and two nuclear genes in order to resolve the taxonomic status of each Cobitis population. Among the investigated features of external morphology, the appearance of spots on the caudal fin base turned out to have the greatest diagnostic value. Furthermore, the number of branched fin rays enabled the discrimination of several species. No morphometric character alone could ensure determination of any Cobitis species. Nevertheless, groups of populations that are more similar in their body shapes correspond to mitochondrial phylogenetic lineages. Based on molecular genetic markers, Dalmatian and Herzegovinian spined loaches form independent lineages inside the Adriatic phylogenetic group. Mitochondrial DNA phylogenetic reconstruction revealed six monophyletic lineages, corresponding to six species distributed in the investigated area. The population distributed in Mostarsko blato karstic field in Bosnia and Herzegovina is described as a new species based on a unique combination of morphological characters: a single triangular Canestrini scale; usually 51/2 branched anal fin rays, 61/2 branched dorsal fin rays, 14 branched caudal fin rays; no spots in the surface pigmentation layer on the caudal fin base; scales on the body very small.

  3. How should we grade lumbar disc herniation and nerve root compression? A systematic review.

    Science.gov (United States)

    Li, Yiping; Fredrickson, Vance; Resnick, Daniel K

    2015-06-01

    MRI is the gold standard for evaluating the relationship of disc material to soft tissue and neural structures. However, terminologies used to describe lumbar disc herniation and nerve root compression have always been a source of confusion. A clear understanding of lumbar disc terminology among clinicians, radiologists, and researchers is vital for patient care and future research. Through a systematic review of the literature, the purpose of this article is to describe lumbar disc terminology and comment on the reliability of various nomenclature systems and their application to clinical practice. PubMed was used for our literature search using the following MeSH headings: "Magnetic Resonance Imaging and Intervertebral Disc Displacement" and "Lumbar Vertebrae" and terms "nomenclature" or "grading" or "classification". Ten papers evaluating lumbar disc herniation/nerve root compression using different grading criteria and providing information regarding intraobserver and interobserver agreement were identified. To date, the Combined Task Force (CTF) and van Rijn classification systems are the most reliable methods for describing lumbar disc herniation and nerve root compression, respectively. van Rijn dichotomized nerve roots from "definitely no root compression, possibly no root compression, indeterminate root compression, possible root compression, and definite root compression" into no root compression (first three categories) and root compression (last two categories). The CTF classification defines lumbar discs as normal, focal protrusion, broad-based protrusion, or extrusion. The CTF classification system excludes "disc bulges," which is a source of confusion and disagreement among many practitioners. This potentially accounts for its improved reliability compared with other proposed nomenclature systems. The main issue in the management of patients with lumbar disc disease and nerve root compression is correlation of imaging findings with clinical

  4. A symmetry model for genetic coding via a wallpaper group composed of the traditional four bases and an imaginary base E: towards category theory-like systematization of molecular/genetic biology.

    Science.gov (United States)

    Sawamura, Jitsuki; Morishita, Shigeru; Ishigooka, Jun

    2014-05-07

    Previously, we suggested prototypal models that describe some clinical states based on group postulates. Here, we demonstrate a group/category theory-like model for molecular/genetic biology as an alternative application of our previous model. Specifically, we focus on deoxyribonucleic acid (DNA) base sequences. We construct a wallpaper pattern based on a five-letter cruciform motif with letters C, A, T, G, and E. Whereas the first four letters represent the standard DNA bases, the fifth is introduced for ease in formulating group operations that reproduce insertions and deletions of DNA base sequences. A basic group Z5 = {r, u, d, l, n} of operations is defined for the wallpaper pattern, with which a sequence of points can be generated corresponding to changes of a base in a DNA sequence by following the orbit of a point of the pattern under operations in group Z5. Other manipulations of DNA sequence can be treated using a vector-like notation 'Dj' corresponding to a DNA sequence but based on the five-letter base set; also, 'Dj's are expressed graphically. Insertions and deletions of a series of letters 'E' are admitted to assist in describing DNA recombination. Likewise, a vector-like notation Rj can be constructed for sequences of ribonucleic acid (RNA). The wallpaper group B = {Z5×∞, ●} (an ∞-fold Cartesian product of Z5) acts on Dj (or Rj) yielding changes to Dj (or Rj) denoted by 'Dj◦B(j→k) = Dk' (or 'Rj◦B(j→k) = Rk'). Based on the operations of this group, two types of groups-a modulo 5 linear group and a rotational group over the Gaussian plane, acting on the five bases-are linked as parts of the wallpaper group for broader applications. As a result, changes, insertions/deletions and DNA (RNA) recombination (partial/total conversion) are described. As an exploratory study, a notation for the canonical "central dogma" via a category theory-like way is presented for future developments. Despite the large incompleteness of our

  5. First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

    Science.gov (United States)

    Rechitsky, Svetlana; Pakhalchuk, Tatiana; San Ramos, Geraldine; Goodman, Adam; Zlatopolsky, Zev; Kuliev, Anver

    2015-02-01

    To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample. Retrospective study. Preimplantation genetic diagnosis center. A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing. Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples. Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates. Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates. The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  6. Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

  7. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  8. A systematic analysis of TCA Escherichia coli mutants reveals suitable genetic backgrounds for enhanced hydrogen and ethanol production using glycerol as main carbon source.

    Science.gov (United States)

    Valle, Antonio; Cabrera, Gema; Muhamadali, Howbeer; Trivedi, Drupad K; Ratray, Nicholas J W; Goodacre, Royston; Cantero, Domingo; Bolivar, Jorge

    2015-09-01

    Biodiesel has emerged as an environmentally friendly alternative to fossil fuels; however, the low price of glycerol feed-stocks generated from the biodiesel industry has become a burden to this industry. A feasible alternative is the microbial biotransformation of waste glycerol to hydrogen and ethanol. Escherichia coli, a microorganism commonly used for metabolic engineering, is able to biotransform glycerol into these products. Nevertheless, the wild type strain yields can be improved by rewiring the carbon flux to the desired products by genetic engineering. Due to the importance of the central carbon metabolism in hydrogen and ethanol synthesis, E. coli single null mutant strains for enzymes of the TCA cycle and other related reactions were studied in this work. These strains were grown anaerobically in a glycerol-based medium and the concentrations of ethanol, glycerol, succinate and hydrogen were analysed by HPLC and GC. It was found that the reductive branch is the more relevant pathway for the aim of this work, with malate playing a central role. It was also found that the putative C4-transporter dcuD mutant improved the target product yields. These results will contribute to reveal novel metabolic engineering strategies for improving hydrogen and ethanol production by E. coli. Copyright © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  9. A systematic review and meta-analysis of genetic association studies for the role of inflammation and the immune system in diabetic nephropathy

    Science.gov (United States)

    Tziastoudi, Maria; Hadjigeorgiou, Georgios M.; Stravodimos, Konstantinos; Zintzaras, Elias

    2017-01-01

    Abstract Background: Despite the certain contribution of metabolic and haemodynamic factors in diabetic nephropathy (DN), many lines of evidence highlight the role of immunologic and inflammatory mechanisms. To elucidate the contribution of the immune system in the development of DN, we explored the contribution of gene variants (polymorphisms) in relevant pathophysiologic pathways. Methods: We selected six major pathways related to immune response from the Kyoto Encyclopaedia of Genes and Genomes database and thereafter we traced all available genetic association studies (GASs) involving gene variants in these pathways from PubMed and HuGE Navigator. Finally, we used meta-analytic methods for synthesizing the results of the GASs. Results: One hundred three GASs were retrieved that included 443 variants from 75 genes. Of those variants, 138 were meta-analysed and 61 produced significant results; seven variants were investigated in single GASs and showed significant association. Variants in CCL2, CCR5, IL6, IL8, EPO, IL1A, IL1B, IL100, IL1RN, GHRL, MMP9, TGFB1, VEGFA, MMP3, MMP12, IL12RB1, PRKCE, TNF and TNFRSF19 genes were associated with an increased risk of DN. Conclusions: There is evidence that variants related with immunologic response affect the course of DN. However, the present results should be interpreted with caution since the current number of available GASs is limited. PMID:28616206

  10. NOMENCLATURAL NOTES ON THE EURYTOMIDS (CHALCIDOIDEA: EURYTOMIDAE) DESCRIBED BY JEAN BRÈTHES HOUSED IN MUSEO ARGENTINO DE CIENCIAS NATURALES “BERNARDINO RIVADAVIA”

    Science.gov (United States)

    Nine species parasitic eurytomid wasps described by Jean Brèthes and deposited in the National Insect Collection of Argentina, Buenos Aires are treated and their nomenclature stabilized. The condition of the type material is described. Lectotypes are designated for Prodecatoma parodii, Eudecatoma o...

  11. Proposal to modify Rule 10a and to delete Recommendation 10a(3) from the International Code of Nomenclature of Prokaryotes.

    Science.gov (United States)

    Oren, Aharon

    2017-09-01

    Principle 2 of the Prokaryotic Code, as modified by the ICSP in 1999, reads: 'The nomenclature of prokaryotes is not independent of botanical and zoological nomenclature. When naming new taxa in the rank of genus or higher, due consideration is to be given to avoiding names which are regulated by the International Code of Zoological Nomenclature and the International Code of Nomenclature for algae, fungi and plants'. But in the current version of the Prokaryotic Code no Rule implements this version of Principle 2. I therefore propose adding the following sentence to Rule 10a: 'As from January 2001, newly proposed generic names must not be later homonyms of names in use in botany or zoology'. Recommendation 10a(3) of the Code states: 'Avoid introducing into bacteriology as generic names such names as are in use in botany or zoology, in particular well-known names'. This Recommendation contravenes the current version of Principle 2 and the proposed new version of Rule 10a. Therefore I propose to delete Recommendation 10a(3) from the Prokaryotic Code.

  12. Nomenclature and databases for the surgical treatment of congenital cardiac disease - an updated primer and an analysis of opportunities for improvement

    NARCIS (Netherlands)

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Mavroudis, Constantine; Backer, Carl Lewis; Lacour-Gayet, Francois G.; Tchervenkov, Christo I.; Franklin, Rodney C. G.; Beland, Marie J.; Jenkins, Kathy J.; Walters, Hal; Bacha, Emile A.; Maruszewski, Bohdan; Kurosawa, Hiromi; Clarke, David Robinson; Gaynor, J. William; Spray, Thomas L.; Stellin, Giovanni; Ebels, Tjark; Krogmann, Otto N.; Aiello, Vera D.; Colan, Steven D.; Weinberg, Paul; Giroud, Jorge M.; Everett, Allen; Wernovsky, Gil; Elliott, Martin J.; Edwards, Fred H.

    2008-01-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for the analysis Of Outcomes of treatments for patients with congenitally malformed hearts. We will consider the current state of analysis of outcomes, lay

  13. Brain maps 4.0-Structure of the rat brain: An open access atlas with global nervous system nomenclature ontology and flatmaps.

    Science.gov (United States)

    Swanson, Larry W

    2018-04-15

    The fourth edition (following editions in 1992, 1998, 2004) of Brain maps: structure of the rat brain is presented here as an open access internet resource for the neuroscience community. One new feature is a set of 10 hierarchical nomenclature tables that define and describe all parts of the rat nervous system within the framework of a strictly topographic system devised previously for the human nervous system. These tables constitute a global ontology for knowledge management systems dealing with neural circuitry. A second new feature is an aligned atlas of bilateral flatmaps illustrating rat nervous system development from the neural plate stage to the adult stage, where most gray matter regions, white matter tracts, ganglia, and nerves listed in the nomenclature tables are illustrated schematically. These flatmaps are convenient for future development of online applications analogous to "Google Maps" for systems neuroscience. The third new feature is a completely revised Atlas of the rat brain in spatially aligned transverse sections that can serve as a framework for 3-D modeling. Atlas parcellation is little changed from the preceding edition, but the nomenclature for rat is now aligned with an emerging panmammalian neuroanatomical nomenclature. All figures are presented in Adobe Illustrator vector graphics format that can be manipulated, modified, and resized as desired, and freely used with a Creative Commons license. © 2018 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc.

  14. Brain maps 4.0—Structure of the rat brain: An open access atlas with global nervous system nomenclature ontology and flatmaps

    Science.gov (United States)

    2018-01-01

    Abstract The fourth edition (following editions in 1992, 1998, 2004) of Brain maps: structure of the rat brain is presented here as an open access internet resource for the neuroscience community. One new feature is a set of 10 hierarchical nomenclature tables that define and describe all parts of the rat nervous system within the framework of a strictly topographic system devised previously for the human nervous system. These tables constitute a global ontology for knowledge management systems dealing with neural circuitry. A second new feature is an aligned atlas of bilateral flatmaps illustrating rat nervous system development from the neural plate stage to the adult stage, where most gray matter regions, white matter tracts, ganglia, and nerves listed in the nomenclature tables are illustrated schematically. These flatmaps are convenient for future development of online applications analogous to “Google Maps” for systems neuroscience. The third new feature is a completely revised Atlas of the rat brain in spatially aligned transverse sections that can serve as a framework for 3‐D modeling. Atlas parcellation is little changed from the preceding edition, but the nomenclature for rat is now aligned with an emerging panmammalian neuroanatomical nomenclature. All figures are presented in Adobe Illustrator vector graphics format that can be manipulated, modified, and resized as desired, and freely used with a Creative Commons license. PMID:29277900

  15. A new species of Agonopterix feeding on giant hogweed (Heracleum mantegazzianum) in the Caucasus, with a discussion of the nomenclature of A. heracliana (Linnaeus) (Depressariidae)

    DEFF Research Database (Denmark)

    Karsholt, Ole; Lvovsky, Alexandr L.; Nielsen, Charlotte

    2006-01-01

    in the umbels of Heracleum mantegazzianum Sommier & Lévier Apiaceae) giant hogweed), an invasive weed in Europe, which is moreover toxic to human skin. The complicated and controversial nomenclature of the related A. heracliana (Linnaeus) (Phalaena (Tortrix)) is discussed, as is that of Depressaria heracliana...

  16. Anatomy and nomenclature of murine lymph nodes: Descriptive study and nomenclatory standardization in BALB/cAnNCrl mice.

    Science.gov (United States)

    Van den Broeck, Wim; Derore, Annie; Simoens, Paul

    2006-05-30

    Murine lymph nodes are intensively studied but often assigned incorrectly in scientific papers. In BALB/cAnNCrl mice, we characterized a total of 22 different lymph nodes. Peripheral nodes were situated in the head and neck region (mandibular, accessory mandibular, superficial parotid, cranial deep cervical nodes), and at the forelimb (proper axillary, accessory axillary nodes) and hindlimb (subiliac, sciatic, popliteal nodes). Intrathoracic lymph nodes included the cranial mediastinal, tracheobronchal and caudal mediastinal nodes. Abdominal lymph nodes were associated with the gastrointestinal tract (gastric, pancreaticoduodenal, jejunal, colic, caudal mesenteric nodes) or were located along the major intra-abdominal blood vessels (renal, lumbar aortic, lateral iliac, medial iliac and external iliac nodes). Comparative and nomenclative aspects of murine lymph nodes are discussed. The position of the lymph nodes of BALB/cAnNCrl mice is summarized and illustrated in an anatomical chart containing proposals for both an official nomenclature according to the Nomina Anatomica Veterinaria and English terms.

  17. Proposal to modify Rule 6, Rule 10a, and Rule 12c of the International Code of Nomenclature of Prokaryotes.

    Science.gov (United States)

    Oren, Aharon; Garrity, George M; Schink, Bernhard

    2014-04-01

    According to the current versions of Rule 10a and Rule 12c of the International Code of Nomenclature of Prokaryotes, names of a genus or subgenus and specific epithets may be taken from any source and may even be composed in an arbitrary manner. Based on these rules, names may be composed of any word or any combination of elements derived from any language with a Latin ending. We propose modifying these rules by adding the text, currently part of Recommendation 6, according to which words from languages other than Latin or Greek should be avoided as long as equivalents exist in Latin or Greek or can be constructed by combining word elements from these two languages. We also propose modification of Rule 6 by adopting some of the current paragraphs of Recommendation 6 to become part of the Rule.

  18. Replacement names and nomenclatural comments for problematic species-group names in Europe's Neogene freshwater Gastropoda. Part 2

    Directory of Open Access Journals (Sweden)

    Thomas Neubauer

    2014-07-01

    Full Text Available In the course of a new database project on Miocene to Recent freshwater gastropods of Europe, a great many of primary and secondary homonyms were revealed. Such nomenclatural issues need clarification in order to avoid misunderstandings and wrong statements about geographical distributions and temporal ranges. The following 16 new names are introduced to replace existing homonyms: Theodoxus militaris jurisicpolsakae nom. n., Viviparus stevanovici nom. n., Melanopsis haueri ripanjensis nom. n., Melanopsis wolfgangfischeri nom. n., Micromelania ramacanensis nom. n., Pseudamnicola welterschultesi nom. n., Muellerpalia haszprunari nom. n., Muellerpalia pseudovalvatoides nom. n., Lithoglyphus gozhiki nom. n., Valvata heidemariae willmanni nom. n., Radix macaleti nom. n., Gyraulus okrugljakensis nom. n., Gyraulus rasseri nom. n., Gyraulus vrapceanus nom. n., Planorbarius halavatsi nom. n., and Segmentina mosbachensis nom. n. Additionally, six cases of homonyms are discussed that are not replaced by new names, because they are considered junior synonyms.

  19. The curation of genetic variants: difficulties and possible solutions.

    Science.gov (United States)

    Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

    2012-12-01

    The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

  20. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  1. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  2. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  3. Report on botanical nomenclature—Vienna 2005. XVII International Botanical Congress, Vienna: Nomenclature Section, 12–16 July 2005

    Directory of Open Access Journals (Sweden)

    Christina Flann

    2015-02-01

    Full Text Available PrefaceThis is the official Report on the deliberations and decisions of the ten sessions of the Nomenclature Section of the XVII International Botanical Congress held in Vienna, Austria, from 12–16 July 2005. The meetings of the Section took place on these five consecutive days prior to the Congress proper. The Section meetings were hosted by the Institute of Botany, University of Vienna, Austria. Technical facilities included full electronic recording of all discussion spoken into the microphones. Text of all proposals to amend the Code was displayed on one screen allowing suggested amendments to be updated as appropriate. The team at the University of Vienna (Christopher Dixon, Jeong-Mi Park, Ovidiu Paun, Carolin A. Redernig and Dieter Reich ensured that the proceedings ran smoothly and enjoyably for all.A report of the decisions of the Section was published soon after the Congress (McNeill & al. in Taxon 54: 1057–1064. 2005. It includes a tabulation of the preliminary mail vote on the published proposals, specifying how the Section acted on each and detailing amendments and new proposals approved upon motions from the floor. It also includes the report of the Nominating Committee as well as the Congress resolution ratifying the Section’s decisions, neither reproduced here. The main result of the Section’s deliberations is the Vienna Code, which was published as Regnum Vegetabile 146, on 20 Sep 2006 (McNeill & al. in Regnum Veg. 146. 2006. It was also published online, on the same date (see http://www.iapt-taxon.org/nomen/main.php.The present report of the proceedings of the Vienna Nomenclature Section conveys, we believe, a true and lively picture of the event. It is primarily based on the MP3 electronic recordings, with, where necessary, supplementation by the comment slips submitted by most speakers and by reference to parallel tape-recording, particularly where there were gaps in the MP3 record. With these sources combined, and

  4. Systematic revision of the Phorusrhacidae (Aves: Ralliformes

    Directory of Open Access Journals (Sweden)

    Alvarenga Herculano M.F.

    2003-01-01

    Full Text Available Fossil remains of birds belonging to the family Phorusrhacidae were studied in several museums of South America, North America and Europe, the main objective being to characterize this family and solve the chaotic state of the nomenclature and classification of these birds. Reconstruction of some species has been done, with the purpose of having an idea about the size, body weight, posture and habit based in their skeletons. The European species, Ameghinornis minor and Aenigmavis sapea are refuted as belonging to this family. Also several forms described from the Tertiary of Argentina are refuted, because they are based on inadequate segments of the skeleton for a good identification, as is the case of the genera Cunampaia, Smiliornis, Pseudolarus, Lophiornis and Riacama, frequently refered to as belonging to the Phorusrhacidae. The Phorusrhacidae family probably originated in South America, since the end of the Cretaceous, as a result of an endemism formed by the isolation of this landmass. During the end of the Pliocene, with the emersion of the Panama isthmus, the family spread to the North America where at least one species is known Titanis walleri, which perhaps represents the last known species of this family, probably becoming extinct in the beginning of the Pleistocene. A systematic revision has been conducted, dealing with the countless problems of nomenclature, and the Phorusrhacidae is now composed of five subfamilies, which are: Brontornithinae, Phorusrhacinae, Patagornithinae, Psilopterinae and Mesembriornithinae in which 13 genera and 17 species are considered. Characters of all taxa are described and a geochronological distribution of all species is presented.

  5. On the taxonomy and the nomenclature of Achillea ceretanica (Asteraceae, and its relationship with another microtaxon from the A. millefolium complex

    Directory of Open Access Journals (Sweden)

    I. Soriano

    2017-01-01

    Full Text Available The status of the species and a subsequent nomenclatural combination are proposed for Achillea ceretanica, a diploid taxon endemic of eastern Pyrenees included in the A. millefolium complex. Synonymisation of A. monticola Martrin-Donos with A. ceretanica is refuted, given that the first is a clearly distinct octoploid lineage of the complex. Some comments on distribution, ecology and frequency of both are added.

  6. MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

    Science.gov (United States)

    Shen, Lishuang; Attimonelli, Marcella; Bai, Renkui; Lott, Marie T; Wallace, Douglas C; Falk, Marni J; Gai, Xiaowu

    2018-06-01

    Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians need a simple bioinformatics tool that is user-friendly, and bioinformaticians need a powerful informatics resource for programmatic usage. Here, we report the development and functionality of the MSeqDR mtDNA Variant Tool set (mvTool), a one-stop mtDNA variant annotation and analysis Web service. mvTool is built upon the MSeqDR infrastructure (https://mseqdr.org), with contributions of expert curated data from MITOMAP (https://www.mitomap.org) and HmtDB (https://www.hmtdb.uniba.it/hmdb). mvTool supports all mtDNA nomenclatures, converts variants to standard rCRS- and HGVS-based nomenclatures, and annotates novel mtDNA variants. Besides generic annotations from dbNSFP and Variant Effect Predictor (VEP), mvTool provides allele frequencies in more than 47,000 germline mitogenomes, and disease and pathogenicity classifications from MSeqDR, Mitomap, HmtDB and ClinVar (Landrum et al., 2013). mvTools also provides mtDNA somatic variants annotations. "mvTool API" is implemented for programmatic access using inputs in VCF, HGVS, or classical mtDNA variant nomenclatures. The results are reported as hyperlinked html tables, JSON, Excel, and VCF formats. MSeqDR mvTool is freely accessible at https://mseqdr.org/mvtool.php. © 2018 Wiley Periodicals, Inc.

  7. International Union of Pharmacology. LXXXIX. Update on the Extended Family of Chemokine Receptors and Introducing a New Nomenclature for Atypical Chemokine Receptors

    Science.gov (United States)

    Bachelerie, Francoise; Ben-Baruch, Adit; Burkhardt, Amanda M.; Combadiere, Christophe; Farber, Joshua M.; Graham, Gerard J.; Horuk, Richard; Sparre-Ulrich, Alexander Hovard; Locati, Massimo; Luster, Andrew D.; Mantovani, Alberto; Matsushima, Kouji; Nibbs, Robert; Nomiyama, Hisayuki; Power, Christine A.; Proudfoot, Amanda E. I.; Rosenkilde, Mette M.; Rot, Antal; Sozzani, Silvano; Thelen, Marcus; Yoshie, Osamu; Zlotnik, Albert

    2014-01-01

    Sixteen years ago, the Nomenclature Committee of the International Union of Pharmacology approved a system for naming human seven-transmembrane (7TM) G protein-coupled chemokine receptors, the large family of leukocyte chemoattractant receptors that regulates immune system development and function, in large part by mediating leukocyte trafficking. This was announced in Pharmacological Reviews in a major overview of the first decade of research in this field [Murphy PM, Baggiolini M, Charo IF, Hébert CA, Horuk R, Matsushima K, Miller LH, Oppenheim JJ, and Power CA (2000) Pharmacol Rev 52:145–176]. Since then, several new receptors have been discovered, and major advances have been made for the others in many areas, including structural biology, signal transduction mechanisms, biology, and pharmacology. New and diverse roles have been identified in infection, immunity, inflammation, development, cancer, and other areas. The first two drugs acting at chemokine receptors have been approved by the U.S. Food and Drug Administration (FDA), maraviroc targeting CCR5 in human immunodeficiency virus (HIV)/AIDS, and plerixafor targeting CXCR4 for stem cell mobilization for transplantation in cancer, and other candidates are now undergoing pivotal clinical trials for diverse disease indications. In addition, a subfamily of atypical chemokine receptors has emerged that may signal through arrestins instead of G proteins to act as chemokine scavengers, and many microbial and invertebrate G protein-coupled chemokine receptors and soluble chemokine-binding proteins have been described. Here, we review this extended family of chemokine receptors and chemokine-binding proteins at the basic, translational, and clinical levels, including an update on drug development. We also introduce a new nomenclature for atypical chemokine receptors with the stem ACKR (atypical chemokine receptor) approved by the Nomenclature Committee of the International Union of Pharmacology and the Human

  8. Sulfosalt systematics: a review. Report of the sulfosalt sub-committee of the IMA Commission on Ore Mineralogy

    DEFF Research Database (Denmark)

    Moelo, Y.; Makovicky, E.; Mozgova, N.N.

    2008-01-01

    , Nomenclature and Classification (CNMNC-IMA). Part I presents generalities of sulfosalt definition and nomenclature. After an extended chemical definition of sulfosalts, attention is focused on "classic" sulfosalts with As3+, Sb3+, Bi3+ or Te4+ as cations, corresponding to the general formula (Me+, Me'(2+), etc......This report deals with a general reexamination of the systematics of sulfosalts. It represents an update of the activity of the Sulfosalt Sub-Committee within the Commission on Ore Mineralogy of the International Mineralogical Association, in connection with the Commission on New Minerals.......), [(Bi, Sb, As)(3+), Te4+](y) [(S, Se, Te)(2-)](z) (Me, Me': various metals). General aspects of their chemistry and classification principles are summarized, especially with regard to chemical substitutions and modular analysis of complex crystal structures. On this basis, Part II presents a review...

  9. Review of the genus Lanchnophorus (Hemiptera: Heteroptera: Rhyparochromidae) with description of three new species and other nomenclatural changes.

    Science.gov (United States)

    Kment, Petr; Carapezza, Attilio; Jindra, Zdeněk; Kondorosy, Előd

    2017-01-25

    The generic name Lanchnophorus Reuter, 1887, deemed for a long time to be unavailable as incorrect original spelling of Lachnophorus (in fact Lachnophorus Distant, 1903 is an unjustified emendation of the former), is restored as a valid name of the genus. Lachnesthus Bergroth, 1915, syn. nov. (new name for the preoccupied Lachnophorus Distant, 1903) is considered junior synonym of Lanchnophorus. The following nomenclatural changes are proposed: Lanchnophorus flavus (Scudder, 1971) comb. nov. = Lachnesthus chinai Scudder, nomen nudum; Lanchnophorus guttulatus Reuter, 1887, comb. restit. = Lachnophorus albidomaculatus Distant, 1913, syn. nov. = Lachnesthus rodriguezensis China, 1925, syn. nov.; Lanchnophorus leucospilus (Walker, 1872) comb. nov.; Lanchnophorus merula (Distant, 1903) comb. nov.; and Lanchnophorus singalensis (Dohrn, 1860) comb. nov. Three new species are described: Lanchnophorus gaoqingae Kment & Jindra sp. nov. from China (Yunnan), Lanchnophorus seminitens Kment & Carapezza sp. nov. from Socotra Island (Yemen), and Lanchnophorus webbi Kondorosy sp. nov. from India: Tamil Nadu. Bibliographies and known distribution of all the included species are reviewed. The following new country and state records are provided: L. flavus from Central African Republic, Ethiopia, Ghana, Mali, Malawi, Niger, Zambia and Zimbabwe; L. leucospilus from China (Yunnan) and Laos, L. merula from India (Kerala/Tamil Nadu) and Thailand; L. singalensis from Angola, Benin, Mozambique, Namibia, Senegal, Sierra Leone, Tanzania, Togo, Uganda, Zambia, Zimbabwe, China (Hainan), Iran (Sistan and Ba-luchestan), Oman, Pakistan, India (Himachal Pradesh, Karnataka, Kerala, Rajasthan), Malaysia, Philippines, and Thailand.

  10. The FIGO systems for nomenclature and classification of causes of abnormal uterine bleeding in the reproductive years: who needs them?

    Science.gov (United States)

    Munro, Malcolm G; Critchley, Hilary O D; Fraser, Ian S

    2012-10-01

    In November 2010, the International Federation of Gynecology and Obstetrics formally accepted a new classification system for causes of abnormal uterine bleeding in the reproductive years. The system, based on the acronym PALM-COEIN (polyps, adenomyosis, leiomyoma, malignancy and hyperplasia-coagulopathy, ovulatory disorders, endometrial causes, iatrogenic, not classified) was developed in response to concerns about the design and interpretation of basic science and clinical investigation that relates to the problem of abnormal uterine bleeding. A system of nomenclature for the description of normal uterine bleeding and the various symptoms that comprise abnormal bleeding has also been included. This article describes the rationale, the structured methods that involved stakeholders worldwide, and the suggested use of the International Federation of Gynecology and Obstetrics system for research, education, and clinical care. Investigators in the field are encouraged to use the system in the design of their abnormal uterine bleeding-related research because it is an approach that should improve our understanding and management of this often perplexing clinical condition. Copyright © 2012. Published by Mosby, Inc.

  11. SPECIES COMPOSITION, DISTRIBUTION, LIFE FORMS AND FOLK NOMENCLATURE OF FOREST AND COMMON LAND PLANTS OF WESTERN CHITWAN, NEPAL

    Science.gov (United States)

    Dangol, D. R.

    2012-01-01

    This paper enumerates 349 plant species belonging to 77 families of vascular plants collected in the winter seasons of 1996 and 2000 by the flora teams of the Population and Ecology Research Laboratory, Nepal. Of the total species, 249 species belong to dicotyledons, 87 species to monocotyledons and 13 species to pteridophytes. Among the families, dicotyledons contributed the highest number of families (55 in number) followed by monocotyledons and pteridophytes. In the study areas, species composition varies with the type of habitats in the study plots. Some species are unique in distribution. The highest unique species are contributed by common lands (87 spp.), followed by the Chitwan National Park forest (36 spp.) and Tikauli forest (32 spp.). Ageratum houstonianum Mill., Cynodon dactylon (L.) Pers., Imperata cylindrica (L.) Beauv., Rungia parviflora (Retz.) Nees, Saccharum spontaneum L. and Thelypteris auriculata (J. Sm.) K. Iwats are the most common species across all the research blocks. Of the listed plants, many plants have local names either in Nepalese or other tribal languages. Plants are named in different ways on the basis of habit, habitat, smell, taste, and morphological characters of the plants, which are also the basis of nomenclature in plant taxonomy. PMID:22962539

  12. Electronic publication of new animal names - An interview with Frank-T. Krell, Commissioner of the International Commission on Zoological Nomenclature and Chair of the ICZN ZooBank Committee

    Science.gov (United States)

    2012-01-01

    On the 4th September 2012 the International Commission on Zoological Nomenclature announced an amendment to the International Code of Zoological Nomenclature allowing for electronic publication of the scientific names of animals. In this interview Frank-T. Krell discusses the implications of this amendment for authors wishing to publish descriptions of newly identified animal species in online and open access journals, and for the future of taxonomic science. PMID:22978411

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Cytotaxonomical analysis of Momordica L. (Cucurbitaceae) species of Indian ..... putative kinase 1 gene associated with the increase risk of type 2 diabetes in northern ... genetic polymorphisms involved in cancer cachexia: a systematic review.

  14. Systematic review

    DEFF Research Database (Denmark)

    Enggaard, Helle

    Title: Systematic review a method to promote nursing students skills in Evidence Based Practice Background: Department of nursing educate students to practice Evidence Based Practice (EBP), where clinical decisions is based on the best available evidence, patient preference, clinical experience...... and resources available. In order to incorporate evidence in clinical decisions, nursing students need to learn how to transfer knowledge in order to utilize evidence in clinical decisions. The method of systematic review can be one approach to achieve this in nursing education. Method: As an associate lecturer...... I have taken a Comprehensive Systematic Review Training course provide by Center of Clinical Guidelines in Denmark and Jonna Briggs Institute (JBI) and practice in developing a systematic review on how patients with ischemic heart disease experiences peer support. This insight and experience...

  15. Homeopathy and systematics: a systematic analysis of the therapeutic effects of the plant species used in homeopathy.

    Science.gov (United States)

    Bharatan, V

    2008-07-01

    The therapeutic effects of the plant species used in homeopathy have never been subjected to systematic analysis. A survey of the various Materiae Medicae shows that over 800 plant species are the source of medicines in homeopathy. As these medicines are considered related to one another with respect to their therapeutic effects for treating similar symptoms, the aim is to classify and map them using the concept of homology. This involves placing the discipline of homeopathy into a comparative framework using these plant medicines as taxa, therapeutic effects as characters, and contemporary cladistic techniques to analyse these relationships. The results are compared using cladograms based on different data sets used in biology (e.g. morphological characters and DNA sequences) to test whether similar cladistic patterns exist among these medicines. By classifying the therapeutic actions, genuine homologies can be distinguished from homoplasies. As this is a comparative study it has been necessary first to update the existing nomenclature of the plant species in the homeopathic literature in line with the current International Code of Botanical Nomenclature.

  16. Re-Os, Sm-Nd, U-Pb, and stepwise lead leaching isotope systematics in shear-zone hosted gold mineralization: genetic tracing and age constraints of crustal hydrothermal activity

    Science.gov (United States)

    Frei, R.; Nägler, Th. F.; Schönberg, R.; Kramers, J. D.

    1998-06-01

    A combined Re-Os, Sm-Nd, U-Pb, and stepwise Pb leaching (PbSL) isotope study of hydrothermal (Mo-W)-bearing minerals and base metal sulfides from two adjacent shear zone hosted gold deposits (RAN, Kimberley) in the Harare-Shamva greenstone belt (Zimbabwe) constrain the timing of the mineralizing events to two periods. During an initial Late Archean event (2.60 Ga) a first molybdenite-scheelite bearing paragenesis was deposited in both shear zone systems, followed by a local reactivation of the shear systems during an Early Proterozoic (1.96 Ga) tectono-thermal overprint, during which base metal sulfides and most of the gold was (re-)deposited. While PbSL has revealed an open-system behavior of the U-Pb systematics in molybdenite and wolframite from the RAN mine, initial Archean Re-Os ages are still preserved implying that this system in these minerals was more resistant to the overprint. A similar retentivity could be shown for the Sm-Nd system in scheelite and powellite associated with the above ore minerals. Re-Os isotopic data from the Proterozoic mineralization in the Kimberley mine point to a recent gain of Re, most pronouncedly affecting Fe-rich sulfides such as pyrrhotite. A significant Re-loss in powellitic scheelite (an alteration phase of molybdenite-bearing scheelite), coupled with a marked loss of U in W-Mo ore minerals, complements the observation of a major Re uptake in Fe-sulfides during oxidizing conditions in a weathering environment. Pyrrhotite under these conditions behaves as an efficient Re-sink. Lead isotope signatures from PbSL residues of molybdenite, powellite, and quartz indicate a continental crustal source and/or contamination for the mineralizing fluid by interaction of the fluids with older sedimentary material as represented by the direct host country rocks. Our investigation reveals the potential of the Re-Os isotopic system applied to crustal hydrothermal ore minerals for genetic tracing and dating purposes. The simplified chemical

  17. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  18. A multilocus phylogeny of Podoctidae (Arachnida, Opiliones, Laniatores) and parametric shape analysis reveal the disutility of subfamilial nomenclature in armored harvestman systematics

    Czech Academy of Sciences Publication Activity Database

    Sharma, P. P.; Santiago, M. A.; Kriebel, R.; Lipps, S. M.; Buenavente, P. A. C.; Diesmos, A. C.; Janda, Milan; Boyer, S. L.; Clouse, R. M.; Wheeler, W. C.

    2017-01-01

    Roč. 106, JAN 01 (2017), s. 164-173 ISSN 1055-7903 Institutional support: RVO:60077344 Keywords : grassatores * morphology * comparative methods Subject RIV: EG - Zoology OBOR OECD: Zoology Impact factor: 4.419, year: 2016 http://www.sciencedirect.com/science/article/pii/S1055790316302445

  19. On names of genera of prokaryotes that are later homonyms of generic names with standing in the zoological or the botanical nomenclature. Proposal of Neomegalonema gen. nov. and Neomegalonema perideroedes comb. nov. as replacements for the prokaryotic generic name Meganema and the species name Meganema perideroedes.

    Science.gov (United States)

    Oren, Aharon

    2017-10-01

    I here present a survey of generic names with standing in the prokaryotic nomenclature that have homonyms with standing under the International Code of Zoological Nomenclature and/or the International Code of Nomenclature for algae, fungi, and plants. I especially discuss such names added after Principle 2 of the Bacteriological Code/Prokaryotic Code was changed in 1999 to make the prokaryote nomenclature not independent of botanical and zoological nomenclature. Cases include the genera Micromonas, Quadrococcus, Yania, Sinococcus, and Meganema. The generic name Meganema was not previously recognized as a homonym of two genera with standing in the zoological nomenclature. Therefore, I here propose renaming Meganema and Meganema perideroedes as Neomegalonema gen. nov. and Neomegalonema perideroedes comb. nov., respectively.

  20. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  1. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  2. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  3. Elucidating Article 45.6 of the International Code of Zoological Nomenclature: a dichotomous key for the determination of subspecific or infrasubspecific rank.

    Science.gov (United States)

    Lingafelter, Steven W; Nearns, Eugenio H

    2013-01-01

    We present an overview of the difficulties sometimes encountered when determining whether a published name following a binomen is available or infrasubspecific and unavailable, following Article 45.6 of the International Code of Zoological Nomenclature (ICZN, 1999). We propose a dichotomous key that facilitates this determination and as a preferable method, given the convoluted and subordinate discussion, exceptions, and qualifications laid out in ICZN (1999: 49-50). Examples and citations are provided for each case one can encounter while making this assessment of availability status of names following the binomen.

  4. International Union of Basic and Clinical Pharmacology. C. Nomenclature and Properties of Calcium-Activated and Sodium-Activated Potassium Channels.

    Science.gov (United States)

    Kaczmarek, Leonard K; Aldrich, Richard W; Chandy, K George; Grissmer, Stephan; Wei, Aguan D; Wulff, Heike

    2017-01-01

    A subset of potassium channels is regulated primarily by changes in the cytoplasmic concentration of ions, including calcium, sodium, chloride, and protons. The eight members of this subfamily were originally all designated as calcium-activated channels. More recent studies have clarified the gating mechanisms for these channels and have documented that not all members are sensitive to calcium. This article describes the molecular relationships between these channels and provides an introduction to their functional properties. It also introduces a new nomenclature that differentiates between calcium- and sodium-activated potassium channels. Copyright © 2016 by The American Society for Pharmacology and Experimental Therapeutics.

  5. An update on the distribution and nomenclature of fleas (Order Siphonaptera of bats (Order Chiroptera and rodents (Order Rodentia from La Rioja Province, Argentina

    Directory of Open Access Journals (Sweden)

    M. Fernanda López Berrizbeitia

    2017-06-01

    Full Text Available The mammalian and flea fauna of La Rioja Province is one of the least known from northwestern Argentina. In this study, the distribution and nomenclature of 13 species of fleas of bats and rodents from La Rioja Province are updated. Four species of fleas are recorded for the first time in La Rioja Province including a new record for northwestern Argentina, and two new flea-host associations. An identification key and distribution map are included for all known species of Siphonaptera of bats and rodents from La Rioja Province, Argentina.

  6. Nomenclatural notes on the genus Pteranthus (Caryophyllaceae) with lectotypification of the name Camphorosma pteanthus and Pteranthus trigynus, and comments on Forsskål's seeds sent from Egypt

    DEFF Research Database (Denmark)

    Iamonico, Dulio; Friis, Ib; Jarvis, Charles

    2015-01-01

    The nomenclatural history of the genus Pteranthus ( Caryophyllaceae) is reviewed. Original material of Camphorosma pteranthus and Pteranthus dichotomus came from a single gathering made by Forsskål in the desert outside Cairo, Egypt, in March 1762. The original material of C. pteranthus was grown...... from seed collected with the herbarium material of P. dicho­tomus. Pteranthus dichotomus is therefore considered a replacement name for C. pteranthus and lectotypified with the same specimen, no. 165.5 LINN (right-hand plant). A supporting epitype is chosen from flowering herbarium material of the same...

  7. Folk knowledge of invertebrates in Central Europe - folk taxonomy, nomenclature, medicinal and other uses, folklore, and nature conservation.

    Science.gov (United States)

    Ulicsni, Viktor; Svanberg, Ingvar; Molnár, Zsolt

    2016-10-11

    There is scarce information about European folk knowledge of wild invertebrate fauna. We have documented such folk knowledge in three regions, in Romania, Slovakia and Croatia. We provide a list of folk taxa, and discuss folk biological classification and nomenclature, salient features, uses, related proverbs and sayings, and conservation. We collected data among Hungarian-speaking people practising small-scale, traditional agriculture. We studied "all" invertebrate species (species groups) potentially occurring in the vicinity of the settlements. We used photos, held semi-structured interviews, and conducted picture sorting. We documented 208 invertebrate folk taxa. Many species were known which have, to our knowledge, no economic significance. 36 % of the species were known to at least half of the informants. Knowledge reliability was high, although informants were sometimes prone to exaggeration. 93 % of folk taxa had their own individual names, and 90 % of the taxa were embedded in the folk taxonomy. Twenty four species were of direct use to humans (4 medicinal, 5 consumed, 11 as bait, 2 as playthings). Completely new was the discovery that the honey stomachs of black-coloured carpenter bees (Xylocopa violacea, X. valga) were consumed. 30 taxa were associated with a proverb or used for weather forecasting, or predicting harvests. Conscious ideas about conserving invertebrates only occurred with a few taxa, but informants would generally refrain from harming firebugs (Pyrrhocoris apterus), field crickets (Gryllus campestris) and most butterflies. We did not find any mythical creatures among invertebrate folk taxa. Almost every invertebrate species was regarded as basically harmful. Where possible, they were destroyed or at least regarded as worth eradicating. However, we could find no evidence to suggest any invertebrate species had suffered population loss as a result of conscious destruction. Sometimes knowledge pertaining to the taxa could have more

  8. Systematic review

    DEFF Research Database (Denmark)

    Lødrup, Anders Bergh; Reimer, Christina; Bytzer, Peter

    2013-01-01

    in getting off acid-suppressive medication and partly explain the increase in long-term use of PPI. A number of studies addressing this issue have been published recently. The authors aimed to systematically review the existing evidence of clinically relevant symptoms caused by acid rebound following PPI...

  9. Systematic review

    DEFF Research Database (Denmark)

    Christensen, Troels Dreier; Spindler, Karen-Lise Garm; Palshof, Jesper Andreas

    2016-01-01

    to earlier diagnosis and improved survival. Method: In this paper, we describe the incidence as well as characteristics associated with BM based on a systematic review of the current literature, following the PRISMA guidelines. Results: We show that the incidence of BM in CRC patients ranges from 0.6 to 3...

  10. Final focus nomenclature

    International Nuclear Information System (INIS)

    Erickson, R.

    1986-01-01

    The formal names and common names for all devices in the final focus system of the SLC are listed. The formal names consist of a device type designator, microprocessor designator, and a four-digit unit number

  11. Outer Solar System Nomenclature

    National Research Council Canada - National Science Library

    Owen, Tobias C

    2000-01-01

    The work to be carried out on the subject grant during the next funding period will center on names needed for surface features on the Galilean satellites of Jupiter, names for the newly discovered...

  12. Final focus nomenclature

    Energy Technology Data Exchange (ETDEWEB)

    Erickson, R.

    1986-08-08

    The formal names and common names for all devices in the final focus system of the SLC are listed. The formal names consist of a device type designator, microprocessor designator, and a four-digit unit number. (LEW)

  13. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  14. Systematic review

    DEFF Research Database (Denmark)

    Bager, Palle; Chauhan, Usha; Greveson, Kay

    2017-01-01

    of evidence is needed and the aim of this article was to systematically review the evidence of IBD advice lines. MATERIALS AND METHODS: A broad systematic literature search was performed to identify relevant studies addressing the effect of advice lines. The process of selection of the retrieved studies...... was undertaken in two phases. In phase one, all abstracts were review by two independent reviewers. In phase two, the full text of all included studies were independently reviewed by two reviewers. The included studies underwent quality assessment and data synthesis. RESULTS: Ten published studies and 10...... congress abstracts were included in the review. The studies were heterogeneous both in scientific quality and in the focus of the study. No rigorous evidence was found to support that advice lines improve disease activity in IBD and correspondingly no studies reported worsening in disease activity. Advice...

  15. Systematic Avocating

    Directory of Open Access Journals (Sweden)

    Jan Green

    2014-12-01

    Full Text Available Feeling obliged to undertake complex research tasks outside core working hours is a common occurrence in academia. Detailed and timely research projects are expected; the creation and defence of sufficient intervals within a crowded working schedule is one concern explored in this short version paper. Merely working longer hours fails to provide a satisfactory solution for individuals experiencing concerns of this nature. Personal effort and drive are utilised and requires the application of mental mustering and systematic procedures. The attitude to research work is treating the task as a hobby conceptualised as avocating. Whilst this provides a personal solution through immersion in the task, this approach should raise concerns for employers. The flexibility of grounded theory is evident and the freedom to draw on various bodies of knowledge provides fresh insight into a problem that occurs in organizations in many sectors experiencing multiple priorities. The application of the core category, systematic avocating, may prove beneficial.

  16. Activating Student to Learn Chemistry using Chemmy Card 6-1 Game as an Instructional Medium in IUPAC Nomenclature of Inorganic Compounds

    Science.gov (United States)

    Lutfi, A.; Hidayah, R.

    2018-01-01

    The aim of this study is to know the effect of Internet-assisted Chemmy Card 6-1 game as an instructional medium in IUPAC Nomenclature of Inorganic Compounds material for X grade of senior high school on students’ activity, learning motivation, and learning outcome. The study was conducted at SMA Negeri Sidoarjo, Indonesia, in two different classes. The instruction was done based on the lesson plan made. The observation on students’ activity was conducted during the instruction with the game while test and questionnaire were given after the instruction. The result showed positive activities, which students listened to the teacher’s explanation, actively delivered questions, and enabled to solve problems in naming compounds. It was also effective to avoid the drowsiness. The result of students’ motivation of X MIPA 6 was 74.78% (good) while X MIPA 7 was 83.80% (very good). The pretest results of two classes showed that no students mastered but 100% students mastered and the increase of N-gain scores in two classes was categorized as high, ≥0,7, after the instruction. The result of this study showed that the use of Internet-assisted Chemmy Card 6-1 game in IUPAC nomenclature of inorganic compounds for X grade of senior high school could be pleasant for students to learn and effective in achieving the learning objective.

  17. General Aspects and First Progress Report on a Frame of a Research on Specific Professional Knowledge of Chemistry Teachers Associated with the Notion of Chemical Nomenclature

    Directory of Open Access Journals (Sweden)

    Gerardo Andrés Perafán Echeverri

    2014-04-01

    Full Text Available Within the framework of research about professional teacher’s knowledge, our business is to identify and to characterize with case study method, a kind of specific professional teacher´s knowledge of Chemistry professorate, associated to the chemical nomenclature notion. This kind of research guides the sight to the teaching contents, but it postulates the teacher as an essential actor of that knowledge, rather than ignore of the other actors (didactic community, researchers, specialists, students, etc. our research realizes the specific construction that the teacher makes, beyond the «spontaneous epistemologies» category, between others, which seems to deny an academic and discipline character of the built knowledge by the teachers. First, we show a brief reference to the research program on professional teacher´s knowledge which frames in the development of research line about Specific Professional Teacher´s Knowledge associated with Particular Categories, which belongs to the research group «Por las Aulas Colombianas- INVAUCOL». After that, we show a short justification about the choice of the particular category: chemical nomenclature, as a studied object, besides the historical importance that it has to the professional teaching consolidation, recognizing the teacher´s specific contributions to discipline body construction of school knowledge. Finally, weset in consideration some general methodological criteria defined in this research, and we show too, some preliminary reflections derived from field work in thepresent state of the project.

  18. HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.

    Science.gov (United States)

    Campos, W N; Massaro, J D; Martinelli, A L C; Halliwell, J A; Marsh, S G E; Mendes-Junior, C T; Donadi, E A

    2017-10-01

    The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System, and published via the IPD-IMGT/HLA website. Four alleles, HFE*001, *002, *003, and *004 exhibited variation within their exon sequences. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  20. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  1. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  2. Phylogenetic and chemical studies in the potential psychotropic species complex of Psilocybe atrobrunnea with taxonomic and nomenclatural notes

    NARCIS (Netherlands)

    Borovička, J.; Oborník, M.; Stříbrný, J.; Noordeloos, M.E.; Parra Sánchez, L.A.; Gryndler, M.

    2015-01-01

    Five Psilocybe species with unresolved systematic position (P. atrobrunnea, P. laetissima, P. medullosa, P. pelliculosa, and P. silvatica) were investigated using four molecular markers (EF1-α, ITS, LSU, and IGS). Phylogenetic analysis revealed that with the exception of P. laetissima, which is now

  3. Genetic variants in periodontal health and disease

    Energy Technology Data Exchange (ETDEWEB)

    Dumitrescu, Alexandrina L [Tromsoe Univ. (Norway). Inst. of Clinical Dentistry; Kobayashi, Junya [Kyoto Univ. (Japan). Dept. of Genome Repair Dynamics

    2010-07-01

    Periodontitis is a complex, multifactorial disease and its susceptibility is genetically determined. The present book systematically reviews the evidence of the association between the genetic variants and periodontitis progression and/or treatment outcomes. Genetic syndromes known to be associated with periodontal disease, the candidate gene polymorphisms investigated in relation to periodontitis, the heritability of chronic and aggressive periodontitis, as well as common guidelines for association studies are described. This growing understanding of the role of genetic variation in inflammation and periodontal chronic disease presents opportunities to identify healthy persons who are at increased risk of disease and to potentially modify the trajectory of disease to prolong healthy aging. The book represents a new concept in periodontology with its pronounced focus on understanding through knowledge rather than presenting the presently valid answers. Connections between genetics and periodontology are systematically reviewed and covered in detail. (orig.)

  4. The nomenclature of MHC class I gene regulatory regions - the case of two different downstream regulatory elements

    Czech Academy of Sciences Publication Activity Database

    Hatina, J.; Jansa, Petr; Forejt, Jiří

    2001-01-01

    Roč. 37, 12-13 (2001), s. 799-800 ISSN 0161-5890 Institutional research plan: CEZ:AV0Z5052915 Keywords : MHC I gene regulatory elements Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.973, year: 2001

  5. Between universalism and regionalism: universal systematics from imperial Japan.

    Science.gov (United States)

    Lee, Jung

    2015-12-01

    Historiographic discussions of the universality and regionality of science have to date focused on European cases for making regional science universal. This paper presents a new perspective by moving beyond European origins and illuminating a non-European scientist's engagement with the universality and regionality of science. It will examine the case of the Japanese botanist Nakai Takenoshin (1882-1952), an internationally recognized authority on Korean flora based at Tokyo Imperial University. Serving on the International Committee on Botanical Nomenclature in 1926, Nakai endorsed and acted upon European claims of universal science, whilst simultaneously unsettling them with his regionally shaped systematics. Eventually he came to promote his own systematics, built regionally on Korean flora, as the new universal. By analysing his shifting claims in relation to those of other European and non-European botanists, this paper makes two arguments. First, universalism and regionalism were not contradictory foundations of scientific practice but useful tools used by this non-European botanist in maintaining his scientific authority as a representative Japanese systematist. Second, his claims to universality and regionalism were both imperially charged. An imperially monopolized study of Korean plants left a regional imprint on Nakai's systematics. In order to maintain his scientific authority beyond its region of origin he had to assert either the expanding regionalism of 'East Asia' or universalism.

  6. Influence of ethnolinguistic diversity on the sorghum genetic patterns in subsistence farming systems in eastern Kenya.

    Directory of Open Access Journals (Sweden)

    Vanesse Labeyrie

    Full Text Available Understanding the effects of actions undertaken by human societies on crop evolution processes is a major challenge for the conservation of genetic resources. This study investigated the mechanisms whereby social boundaries associated with patterns of ethnolinguistic diversity have influenced the on-farm distribution of sorghum diversity. Social boundaries limit the diffusion of planting material, practices and knowledge, thus shaping crop diversity in situ. To assess the effect of social boundaries, this study was conducted in the contact zone between the Chuka, Mbeere and Tharaka ethnolinguistic groups in eastern Kenya. Sorghum varieties were inventoried and samples collected in 130 households. In all, 297 individual plants derived from seeds collected under sixteen variety names were characterized using a set of 18 SSR molecular markers and 15 morphological descriptors. The genetic structure was investigated using both a Bayesian assignment method and distance-based clustering. Principal Coordinates Analysis was used to describe the structure of the morphological diversity of the panicles. The distribution of the varieties and the main genetic clusters across ethnolinguistic groups was described using a non-parametric MANOVA and pairwise Fisher tests. The spatial distribution of landrace names and the overall genetic spatial patterns were significantly correlated with ethnolinguistic partition. However, the genetic structure inferred from molecular makers did not discriminate the short-cycle landraces despite their morphological distinctness. The cases of two improved varieties highlighted possible fates of improved materials. The most recent one was often given the name of local landraces. The second one, that was introduced a dozen years ago, displays traces of admixture with local landraces with differential intensity among ethnic groups. The patterns of congruence or discordance between the nomenclature of farmers' varieties and the

  7. Evolutionary genetics

    National Research Council Canada - National Science Library

    Maynard Smith, John

    1989-01-01

    .... It differs from other textbooks of population genetics in applying the basic theory to topics, such as social behaviour, molecular evolution, reiterated DNA, and sex, which are the main subjects...

  8. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  9. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  10. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  11. A common registration-to-publication automated pipeline for nomenclatural acts for higher plants (International Plant Names Index, IPNI), fungi (Index Fungorum, MycoBank) and animals (ZooBank)

    NARCIS (Netherlands)

    Robert, Vincent

    2016-01-01

    Collaborative effort among four lead indexes of taxon names and nomenclatural acts (International Plant Name Index (IPNI), Index Fungorum, MycoBank and ZooBank) and the journals PhytoKeys, MycoKeys and ZooKeys to create an automated, pre-publication, registration workflow, based on a

  12. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  13. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  14. Cytogenetic studies and karyotype nomenclature of three wild canid species: maned wolf (Chrysocyon brachyurus), bat-eared fox (Otocyon megalotis) and fennec fox (Fennecus zerda).

    Science.gov (United States)

    Pieńkowska-Schelling, A; Schelling, C; Zawada, M; Yang, F; Bugno, M; Ferguson-Smith, M

    2008-01-01

    We have analysed the chromosomes of three wild and endangered canid species: the maned wolf (Chrysocyon brachyurus), the bat-eared fox (Otocyon megalotis) and the fennec fox (Fennecuszerda) using classical and molecular cytogenetic methods. For the first time detailed and encompassing descriptions of the chromosomes are presented including the chromosomal assignment of nucleolar organizer regions and the 5S rRNA gene cluster. We propose a karyotype nomenclature with ideograms including more than 300 bands per haploid set for each of these three species which will form the basis for further research. In addition, we propose four basic different patterns of karyotype organization in the family Canidae. A comparison of these patterns with the most recent molecular phylogeny of Canidae revealed that the karyotype evolution of a species is not always strongly connected with its phylogenetic position. Our findings underline the need and justification for basic cytogenetic work in rare and exotic species. (c) 2008 S. Karger AG, Basel.

  15. Nomenclatural notes on the Eurytomids (Chalcidoidea: Eurytomidae) described by Jean Brèthes housed in Museo Argentino de Ciencias Naturales "Bernardino Rivadavia".

    Science.gov (United States)

    Gates, Michael W

    2014-04-16

    Ten Eurytomidae (Hymenoptera) parasitic wasp species described by Jean Brèthes and deposited in the Museo Argentino de Ciencias Naturales in Buenos Aires are treated and their nomenclature stabilized. The condition of the type material is described. Lectotypes are designated for Decatoma cecidosiphaga Brèthes, Prodecatoma parodii Brèthes, Eudecatoma opposita Brèthes, and Eurytoma caridei Brèthes. One new generic synonymy, Xanthosomodes Brèthes with Tetramesa Walker, n. syn., and five new combinations are proposed: Tetramesa albiangulata (Brèthes), n. comb.; Phylloxeroxenus caridei (Brèthes), n. comb.; Aximopsis vulgata (Brèthes), n. comb.; Proseurytoma parodii (Brèthes), n. comb.; and Bruchophagus opposita (Brèthes), n. comb. Sycophila paranensis Brèthes is declared incertae sedis.

  16. Stenosoma stephenseni sp. n. (Isopoda, Idoteidae, from the southwestern Mediterranean, with a note on the nomenclatural status of Synisoma Collinge, 1917

    Directory of Open Access Journals (Sweden)

    António Santos

    2011-10-01

    Full Text Available Recent collections of isopods in Alboran Island and Algeria included several specimens of the species Stenosoma stephenseni sp. n. This is the fourteenth species described in the genus Stenosoma Leach, 1814. Examination of two specimens collected during the Danish oceanographic cruises of the Thor (1908–10 close to the Galite Islands, and identified as S. acuminatum Leach, 1814, revealed that both belong to S. stephenseni sp. n. In light of these findings, the Mediterranean records of S. acuminatum are revised, and it is proposed that S. acuminatum is a strictly Atlantic species. An updated diagnosis for the genus Stenosoma is given, together with a key for the identification of its species. The nomenclatural status of the name Synisoma Collinge, 1917 is addressed, and although it is in prevailing usage, it is shown that Stenosoma Leach, 1814 is the valid name of the genus.

  17. Stenosoma stephenseni sp. n. (Isopoda, Idoteidae), from the southwestern Mediterranean, with a note on the nomenclatural status of Synisoma Collinge, 1917.

    Science.gov (United States)

    Dos Santos, António Múrias; Xavier, Raquel; Zenboudji, Saliha; Branco, Tristão; Branco, Madalena

    2011-01-01

    Recent collections of isopods in Alboran Island and Algeria included several specimens of the species Stenosoma stephensenisp. n. This is the fourteenth species described in the genus Stenosoma Leach, 1814. Examination of two specimens collected during the Danish oceanographic cruises of the Thor (1908-10) close to the Galite Islands, and identified as Stenosoma acuminatum Leach, 1814, revealed that both belong to Stenosoma stephensenisp. n. In light of these findings, the Mediterranean records of Stenosoma acuminatum are revised, and it is proposed that Stenosoma acuminatum is a strictly Atlantic species. An updated diagnosis for the genus Stenosoma is given, together with a key for the identification of its species. The nomenclatural status of the name Synisoma Collinge, 1917 is addressed, and although it is in prevailing usage, it is shown that Stenosoma Leach, 1814 is the valid name of the genus.

  18. Nomenclature- and Database-Compatible Names for the Two Ebola Virus Variants that Emerged in Guinea and the Democratic Republic of the Congo in 2014

    Science.gov (United States)

    Kuhn, Jens H.; Andersen, Kristian G.; Baize, Sylvain; Bào, Yīmíng; Bavari, Sina; Berthet, Nicolas; Blinkova, Olga; Brister, J. Rodney; Clawson, Anna N.; Fair, Joseph; Gabriel, Martin; Garry, Robert F.; Gire, Stephen K.; Goba, Augustine; Gonzalez, Jean-Paul; Günther, Stephan; Happi, Christian T.; Jahrling, Peter B.; Kapetshi, Jimmy; Kobinger, Gary; Kugelman, Jeffrey R.; Leroy, Eric M.; Maganga, Gael Darren; Mbala, Placide K.; Moses, Lina M.; Muyembe-Tamfum, Jean-Jacques; N’Faly, Magassouba; Nichol, Stuart T.; Omilabu, Sunday A.; Palacios, Gustavo; Park, Daniel J.; Paweska, Janusz T.; Radoshitzky, Sheli R.; Rossi, Cynthia A.; Sabeti, Pardis C.; Schieffelin, John S.; Schoepp, Randal J.; Sealfon, Rachel; Swanepoel, Robert; Towner, Jonathan S.; Wada, Jiro; Wauquier, Nadia; Yozwiak, Nathan L.; Formenty, Pierre

    2014-01-01

    In 2014, Ebola virus (EBOV) was identified as the etiological agent of a large and still expanding outbreak of Ebola virus disease (EVD) in West Africa and a much more confined EVD outbreak in Middle Africa. Epidemiological and evolutionary analyses confirmed that all cases of both outbreaks are connected to a single introduction each of EBOV into human populations and that both outbreaks are not directly connected. Coding-complete genomic sequence analyses of isolates revealed that the two outbreaks were caused by two novel EBOV variants, and initial clinical observations suggest that neither of them should be considered strains. Here we present consensus decisions on naming for both variants (West Africa: “Makona”, Middle Africa: “Lomela”) and provide database-compatible full, shortened, and abbreviated names that are in line with recently established filovirus sub-species nomenclatures. PMID:25421896

  19. Nomenclature- and Database-Compatible Names for the Two Ebola Virus Variants that Emerged in Guinea and the Democratic Republic of the Congo in 2014

    Directory of Open Access Journals (Sweden)

    Jens H. Kuhn

    2014-11-01

    Full Text Available In 2014, Ebola virus (EBOV was identified as the etiological agent of a large and still expanding outbreak of Ebola virus disease (EVD in West Africa and a much more confined EVD outbreak in Middle Africa. Epidemiological and evolutionary analyses confirmed that all cases of both outbreaks are connected to a single introduction each of EBOV into human populations and that both outbreaks are not directly connected. Coding-complete genomic sequence analyses of isolates revealed that the two outbreaks were caused by two novel EBOV variants, and initial clinical observations suggest that neither of them should be considered strains. Here we present consensus decisions on naming for both variants (West Africa: “Makona”, Middle Africa: “Lomela” and provide database-compatible full, shortened, and abbreviated names that are in line with recently established filovirus sub-species nomenclatures.

  20. An update on MyoD evolution in teleosts and a proposed consensus nomenclature to accommodate the tetraploidization of different vertebrate genomes.

    Directory of Open Access Journals (Sweden)

    Daniel J Macqueen

    Full Text Available BACKGROUND: MyoD is a muscle specific transcription factor that is essential for vertebrate myogenesis. In several teleost species, including representatives of the Salmonidae and Acanthopterygii, but not zebrafish, two or more MyoD paralogues are conserved that are thought to have arisen from distinct, possibly lineage-specific duplication events. Additionally, two MyoD paralogues have been characterised in the allotetraploid frog, Xenopus laevis. This has lead to a confusing nomenclature since MyoD paralogues have been named outside of an appropriate phylogenetic framework. METHODS AND PRINCIPAL FINDINGS: Here we initially show that directly depicting the evolutionary relationships of teleost MyoD orthologues and paralogues is hindered by the asymmetric evolutionary rate of Acanthopterygian MyoD2 relative to other MyoD proteins. Thus our aim was to confidently position the event from which teleost paralogues arose in different lineages by a comparative investigation of genes neighbouring myod across the vertebrates. To this end, we show that genes on the single myod-containing chromosome of mammals and birds are retained in both zebrafish and Acanthopterygian teleosts in a striking pattern of double conserved synteny. Further, phylogenetic reconstruction of these neighbouring genes using Bayesian and maximum likelihood methods supported a common origin for teleost paralogues following the split of the Actinopterygii and Sarcopterygii. CONCLUSION: Our results strongly suggest that myod was duplicated during the basal teleost whole genome duplication event, but was subsequently lost in the Ostariophysi (zebrafish and Protacanthopterygii lineages. We propose a sensible consensus nomenclature for vertebrate myod genes that accommodates polyploidization events in teleost and tetrapod lineages and is justified from a phylogenetic perspective.

  1. Genetic Alterations in Glioma

    International Nuclear Information System (INIS)

    Bralten, Linda B. C.; French, Pim J.

    2011-01-01

    Gliomas are the most common type of primary brain tumor and have a dismal prognosis. Understanding the genetic alterations that drive glioma formation and progression may help improve patient prognosis by identification of novel treatment targets. Recently, two major studies have performed in-depth mutation analysis of glioblastomas (the most common and aggressive subtype of glioma). This systematic approach revealed three major pathways that are affected in glioblastomas: The receptor tyrosine kinase signaling pathway, the TP53 pathway and the pRB pathway. Apart from frequent mutations in the IDH1/2 gene, much less is known about the causal genetic changes of grade II and III (anaplastic) gliomas. Exceptions include TP53 mutations and fusion genes involving the BRAF gene in astrocytic and pilocytic glioma subtypes, respectively. In this review, we provide an update on all common events involved in the initiation and/or progression across the different subtypes of glioma and provide future directions for research into the genetic changes

  2. A Review of Dendroctonus frontalis Zimmermann Systematics

    Science.gov (United States)

    Anthony I. Cognato

    2011-01-01

    The systematic history of the southern pine beetle, Dendroctonus frontalis Zimmermann, is reviewed. Morphological, biological, karyological, and molecular data clearly define and diagnose the species limits of D. frontalis. More complete phylogenetic analysis and characterization of population genetic variation will further clarify the evolutionary history of the D....

  3. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  4. Nomenclatural Studies Toward a World List of Diptera Genus-Group Names. Part V: Pierre-Justin-Marie Macquart.

    Science.gov (United States)

    Evenhuis, Neal L; Pape, Thomas; Pont, Adrian C

    2016-09-30

    The Diptera genus-group names of Pierre-Justin-Marie Macquart are reviewed and annotated. A total of 399 available genus-group names in 69 families of Diptera are listed alphabetically, for each name giving author, year and page of original publication, originally included species, type species and method of fixation, current status of the name, family placement, and a list of any emendations of it that have been found in the literature. Remarks are given to clarify nomenclatural or taxonomic information. In addition, an index to all the species-group names of Diptera proposed by Macquart (3,611, of which 3,543 are available) is given with bibliographic reference (year and page) to each original citation.        The following type species are designated herein: Agculocera nigra Macquart, 1855 for Onuxicera Macquart, 1855, present designation [Tachinidae]; Trixa imhoffi Macquart, 1834, for Semiomyia Macquart, 1848, present designation [Tachinidae].        The following type species are designated herein with fixation under ICZN Code Art. 70.3.2: Azelia nebulosa Robineau-Desvoidy, 1830 for Atomogaster Macquart, 1835, present designation [Muscidae]; Tachydromia vocatoria Fallén, 1816 for Chelipoda Macquart, 1835, present designation [Empididae]; Eriocera macquarti Enderlein, 1912 for Eriocera Macquart, 1838, present designation [Limoniidae]; Limosina acutangula Zetterstedt, 1847 for Heteroptera Macquart, 1835, present designation [Sphaeroceridae]; Phryxe pavoniae Robineau-Desvoidy, 1830 for Masicera Macquart, 1834, present designation [Tachinidae]; Pachymyia macquartii Townsend, 1916 for Pachymyia Macquart, 1844, present designation [Tachinidae].        Earlier valid subsequent type-species designations have been found in this study for the following: Anisophysa Macquart, 1835 [Sepsidae]; Diphysa Macquart, 1838 [Stratiomyidae]; Pachyrhina Macquart, 1834 [Tipulidae]; Silbomyia Macquart, 1844 [Calliphoridae].        One name is raised from

  5. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  6. Molecular genetics of schizophrenia: past, present and future

    Indian Academy of Sciences (India)

    Unknown

    leucocyte antigen; IDDM, insulin dependent diabetes mellitus; MAO, monoamine oxidase; MHC, ... In this review, we summarize the evolution of schizophrenia genetics from ...... K, Yeh J I and Hsiao K J 1999 Systematic mutation analysis.

  7. The molecular genetic basis of age-related macular degeneration ...

    Indian Academy of Sciences (India)

    2009-12-10

    Dec 10, 2009 ... this review, we have provided an overview on the underlying molecular genetic mechanisms in AMD worldwide and highlight ..... eases like diabetes (Scott et al. ...... 2006 Systematic review and meta-analysis of.

  8. Genetic basis of arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

    2018-05-01

    To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

  9. Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders

    NARCIS (Netherlands)

    Andrews, T.; Meader, S.; Vulto-van Silfhout, A.T.; Taylor, A.; Steinberg, J.; Hehir-Kwa, J.; Pfundt, R.P.; Leeuw, N. de; Vries, B. de; Webber, C.

    2015-01-01

    Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far

  10. New Genetics

    Science.gov (United States)

    ... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

  11. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  12. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  13. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  14. Genetic analysis

    NARCIS (Netherlands)

    Koornneef, M.; Alonso-Blanco, C.; Stam, P.

    2006-01-01

    The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance

  15. Molecular genetics

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  16. Role of Genomic Typing in Taxonomy, Evolutionary Genetics, and Microbial Epidemiology

    Science.gov (United States)

    van Belkum, Alex; Struelens, Marc; de Visser, Arjan; Verbrugh, Henri; Tibayrenc, Michel

    2001-01-01

    Currently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and microbial epidemiology all rely on genetic typing data for discrimination between genotypes. Apart from being an essential component of these fundamental sciences, microbial typing clearly affects several areas of applied microbiogical research. The epidemiological investigation of outbreaks of infectious diseases and the measurement of genetic diversity in relation to relevant biological properties such as pathogenicity, drug resistance, and biodegradation capacities are obvious examples. The diversity among nucleic acid molecules provides the basic information for all fields described above. However, researchers in various disciplines tend to use different vocabularies, a wide variety of different experimental methods to monitor genetic variation, and sometimes widely differing modes of data processing and interpretation. The aim of the present review is to summarize the technological and fundamental concepts used in microbial taxonomy, evolutionary genetics, and epidemiology. Information on the nomenclature used in the different fields of research is provided, descriptions of the diverse genetic typing procedures are presented, and examples of both conceptual and technological research developments for Escherichia coli are included. Recommendations for unification of the different fields through standardization of laboratory techniques are made. PMID:11432813

  17. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  18. 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

  19. Phylogenetic systematics of the genus Echinococcus (Cestoda: Taeniidae).

    Science.gov (United States)

    Nakao, Minoru; Lavikainen, Antti; Yanagida, Tetsuya; Ito, Akira

    2013-11-01

    Echinococcosis is a serious helminthic zoonosis in humans, livestock and wildlife. The pathogenic organisms are members of the genus Echinococcus (Cestoda: Taeniidae). Life cycles of Echinococcus spp. are consistently dependent on predator-prey association between two obligate mammalian hosts. Carnivores (canids and felids) serve as definitive hosts for adult tapeworms and their herbivore prey (ungulates, rodents and lagomorphs) as intermediate hosts for metacestode larvae. Humans are involved as an accidental host for metacestode infections. The metacestodes develop in various internal organs, particularly in liver and lungs. Each metacestode of Echinococcus spp. has an organotropism and a characteristic form known as an unilocular (cystic), alveolar or polycystic hydatid. Recent molecular phylogenetic studies have demonstrated that the type species, Echinococcus granulosus, causing cystic echinococcosis is a cryptic species complex. Therefore, the orthodox taxonomy of Echinococcus established from morphological criteria has been revised from the standpoint of phylogenetic systematics. Nine valid species including newly resurrected taxa are recognised as a result of the revision. This review summarises the recent advances in the phylogenetic systematics of Echinococcus, together with the historical backgrounds and molecular epidemiological aspects of each species. A new phylogenetic tree inferred from the mitochondrial genomes of all valid Echinococcus spp. is also presented. The taxonomic nomenclature for Echinococcus oligarthrus is shown to be incorrect and this name should be replaced with Echinococcus oligarthra. Copyright © 2013 Australian Society for Parasitology Inc. Published by Elsevier Ltd. All rights reserved.

  20. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. 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 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. 28 references, 3 figures, 5 tables

  1. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  2. Genetic testing and its implications: human genetics researchers grapple with ethical issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

  3. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

    Science.gov (United States)

    Hamosh, Ada; Scott, Alan F; Amberger, Joanna S; Bocchini, Carol A; McKusick, Victor A

    2005-01-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

  4. Exploring Genetic Suppression Interactions on a Global Scale

    OpenAIRE

    van Leeuwen, Jolanda; Pons, Carles; Mellor, Joseph C.; Yamaguchi, Takafumi N.; Friesen, Helena; Koschwanez, John; Ušaj, Mojca Mattiazzi; Pechlaner, Maria; Takar, Mehmet; Ušaj, Matej; VanderSluis, Benjamin; Andrusiak, Kerry; Bansal, Pritpal; Baryshnikova, Anastasia; Boone, Claire

    2016-01-01

    Genetic suppression occurs when the phenotypic defects caused by a mutation in a particular gene are rescued by a mutation in a second gene. To explore the principles of genetic suppression, we examined both literature-curated and unbiased experimental data, involving systematic genetic mapping and whole-genome sequencing, to generate a large-scale suppression network among yeast genes. Most suppression pairs identified novel relationships among functionally related genes, providing new insig...

  5. Single Nucleotide Polymorphism Markers for Genetic Mapping in Drosophila melanogaster

    OpenAIRE

    Hoskins, Roger A.; Phan, Alexander C.; Naeemuddin, Mohammed; Mapa, Felipa A.; Ruddy, David A.; Ryan, Jessica J.; Young, Lynn M.; Wells, Trent; Kopczynski, Casey; Ellis, Michael C.

    2001-01-01

    For nearly a century, genetic analysis in Drosophila melanogaster has been a powerful tool for analyzing gene function, yet Drosophila lacks the molecular genetic mapping tools that recently have revolutionized human, mouse, and plant genetics. Here, we describe the systematic characterization of a dense set of molecular markers in Drosophila by using a sequence tagged site-based physical map of the genome. We identify 474 biallelic markers in standard laboratory strains of Drosophila that sp...

  6. A without-prejudice list of generic names of fungi for protection under the International Code of Nomenclature for algae, fungi, and plants.

    Science.gov (United States)

    Kirk, Paul M; Stalpers, Joost A; Braun, Uwe; Crous, Pedro W; Hansen, Karen; Hawksworth, David L; Hyde, Kevin D; Lücking, Robert; Lumbsch, Thorsten H; Rossman, Amy Y; Seifert, Keith A; Stadler, Mark

    2013-12-01

    As a first step towards the production of a List of Protected Generic Names for Fungi, a without-prejudice list is presented here as a basis for future discussion and the production of a List for formal adoption. We include 6995 generic names out of the 17072 validly published names proposed for fungi and invite comments from all interested mycologists by 31 March 2014. The selection of names for inclusion takes note of recent major publications on different groups of fungi, and further the decisions reached so far by international working groups concerned with particular families or genera. Changes will be sought in the Code to provide for this and lists at other ranks to be protected against any competing unlisted names, and to permit the inclusion of names of lichen-forming fungi. A revised draft will be made available for further discussion at the 10(th) International Mycological Congress in Bangkok in August 2014. A schedule is suggested for the steps needed to produce a list for adoption by the International Botanical Congress in August 2017. This initiative provides mycologists with an opportunity to place nomenclature at the generic level on a more secure and stable base.

  7. Description and phylogenetic relationships of a new genus and two new species of lizards from Brazilian Amazonia, with nomenclatural comments on the taxonomy of Gymnophthalmidae (Reptilia: Squamata).

    Science.gov (United States)

    Colli, Guarino R; Hoogmoed, Marinus S; Cannatella, David C; Cassimiro, José; Gomes, Jerriane Oliveira; Ghellere, José Mário; Gomes, Jerriane Oliveira; Ghellere, José Mário; Nunes, Pedro M Sales; Pellegrino, Kátia C M; Salerno, Patricia; Souza, Sergio Marques De; Rodrigues, Miguel Trefaut

    2015-08-18

    We describe a new genus and two new species of gymnophthalmid lizards based on specimens collected from Brazilian Amazonia, mostly in the "arc of deforestation". The new genus is easily distinguished from other Gymnophthalmidae by having very wide, smooth, and imbricate nuchals, arranged in two longitudinal and 6-10 transverse rows from nape to brachium level, followed by much narrower, strongly keeled, lanceolate, and mucronate scales. It also differs from all other Gymnophthalmidae, except Iphisa, by the presence of two longitudinal rows of ventrals. The new genus differs from Iphisa by having two pairs of enlarged chinshields (one in Iphisa); posterior dorsal scales lanceolate, strongly keeled and not arranged in longitudinal rows (dorsals broad, smooth and forming two longitudinal rows), and lateral scales keeled (smooth). Maximum parsimony, maximum likelihood, and Bayesian phylogenetic analyses based on morphological and molecular data indicate the new species form a clade that is most closely related to Iphisa. We also address several nomenclatural issues and present a revised classification of Gymnophthalmidae.

  8. Nomenclatural availability of the names applied to “varieties” of the green toad (Bufo viridis subgroup in the Italian territory, with emphasis on the variety lineata of Ninni (Anura: Bufonidae

    Directory of Open Access Journals (Sweden)

    Nicola Novarini

    2010-07-01

    Full Text Available Recent molecular investigations on Eurasian green toads led to the recognition of distinct lineages and to the establishment of new taxa within the former Bufo viridis; as a consequence, significant range-wide nomenclatural changes have been proposed, although some uncertainties remained on the available names applicable within the Italian territory. In order to contribute to clarify the matter, we evaluated, under the provisions of the International Code of Zoological Nomenclature, the nomenclatural availability of all the names that have been applied to infrasubspecific entities of the Bufo viridis subgroup within the Italian territory. We also provided a historical overview of the usage of all these names, as well as detailed information on the original material upon which the variety lineata of A.P. Ninni was established. Our analysis supports the view that only the names crucigera Eichwald, 1831 and balearica Boettger, 1880 are available, the former being however junior synonym of B. viridis Laurenti, 1768, whereas the names acutirostris and obtusirostris of Lessona, lineata of Ninni, concolor and maculata of Camerano, and nardoi of Paolucci, Fuhn and Bruno are all not available.

  9. The molecular genetics of holoprosencephaly.

    Science.gov (United States)

    Roessler, Erich; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) has captivated the imagination of Man for millennia because its most extreme manifestation, the single-eyed cyclopic newborn infant, brings to mind the fantastical creature Cyclops from Greek mythology. Attempting to understand this common malformation of the forebrain in modern medical terms requires a systematic synthesis of genetic, cytogenetic, and environmental information typical for studies of a complex disorder. However, even with the advances in our understanding of HPE in recent years, there are significant obstacles remaining to fully understand its heterogeneity and extensive variability in phenotype. General lessons learned from HPE will likely be applicable to other malformation syndromes. Here we outline the common, and rare, genetic and environmental influences on this conserved developmental program of forebrain development and illustrate the similarities and differences between these malformations in humans and those of animal models. 2010 Wiley-Liss, Inc.

  10. Molecular genetics

    International Nuclear Information System (INIS)

    Kubitschek, H.E.

    1975-01-01

    Progress is reported on studies on the nature and action of lethal and mutagenic lesions in DNA and the mechanisms by which these are produced in bacteria by ionizing radiation or by decay of radioisotopes incorporated in DNA. Studies of radioisotope decay provide the advantages that the original lesion is localized in the genetic material and the immediate physical and chemical changes that occur at decay are known. Specific types of DNA damage were related to characteristic decay properties of several radioisotopes. Incorporated 125 I, for example, induces a double-stranded break in DNA with almost every decay, but causes remarkably little damage of any other kind to the DNA. (U.S.)

  11. The systematization of practice

    DEFF Research Database (Denmark)

    Vidal, Rene Victor Valqui

    2002-01-01

    this paper presents an approach for the systematization of practical experiences whitin Operations Research, Community work, Systems Sciences, Action Research, etc. A case study is presented: the systematization of the activities of a development center in Denmark.......this paper presents an approach for the systematization of practical experiences whitin Operations Research, Community work, Systems Sciences, Action Research, etc. A case study is presented: the systematization of the activities of a development center in Denmark....

  12. DNA Commission of the International Society for Forensic Genetics

    DEFF Research Database (Denmark)

    Parson, W; Gusmão, L; Hares, D R

    2014-01-01

    The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretat......The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis...... and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have...... been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data...

  13. [BETWEEN USAGE AND POLEMIC, AN ARGUMENT IN FAVOUR OF CLARIFYING THE TERMINOLOGY FOR PREIMPLANTATION GENETIC DIAGNOSIS].

    Science.gov (United States)

    Côté, Stéphanie; Ravitsky, Vardit; Hamet, Pavel; Bouffard, Chantal

    2015-12-01

    Over 30 years ago, preimplantation genetic diagnosis (PGD) was developed to help couples at risk of transmitting a serious genetic disease to their offspring. Today, the range of medical and non-medical uses of PGD has expanded considerably and some raise much controversy. This is the case, for example, with In-Vitro Fertilization to select embryos as 'saviour siblings' or to screen for susceptibility and predisposition to late onset diseases or conditions of variable penetrance. The situation is even more problematic in the case of sex selection or selection of traits that are culturally valued or discredited (such as deafness, behavioral traits, or height). The debate surrounding PGD has been employing terms to describe these particular uses that have contributed to a focus on the negative effects, thus preventing a distinction between the abuses and the benefits of this reproductive technology. In this context, this paper proposes a terminological clarification that would allow distinguishing medical and non-medical use and, therefore, the issues relevant to each. A more accurate and less generic nomenclature could prevent a conflation of different levels of ethical, clinical and social issues under the single term 'PGD'. For the vast majority of medical uses, we propose to keep: 'preimplantation genetic diagnosis (PGD)', which emphasizes that it is a genetic diagnosis. For non-medical uses, we suggest: 'preimplantation genetic trait selection (PGTS)'.

  14. Fabrication and variation of the cut-out yield of beef carcasses in Venezuela: anatomical description of the process and equivalency of cut nomenclature to North American counterparts

    Directory of Open Access Journals (Sweden)

    Angela Montero

    2014-06-01

    Full Text Available The typical processes of beef carcass fabrication in Venezuela are anatomically described and the equivalence in cut nomenclature with that of México and United States is provided. Additionally, 910 carcasses were fabricated to assess yield (kg and percentages of carcass weight in products (subprimals, subprimal groups of distinct commercial value (High, Medium, Low and by-products (bone, fat trimmings using mean values ± standard deviation (DE, coefficient of variation (CV and range of values. Once the carcass is ribbed at the 5th intercostal space, subprimals are obtained by deboning and dissecting the muscle masses (saw cutting is seldom used. In terms of yield, the top three (out of 18 individual subprimals were: Solomo Abierto (boneless Chuck Roll, 39.1± 10.88kg; 14.3± 2.84%, Costilla (bone-in Plate, 22kg± 4.15; 8.12± 0.88% and Solomo de Cuerito (boneless Rib and Loin, 21.6± 3.10kg; 8.0± 0.59%. Cutability values for High-Valued and Medium-Valued subprimal groups were 81.5± 10.3kg (30.2± 1.43% and 67.3± 14.57kg (24.8± 3.22%, respectively; the latter showing the highest CV (13.0%. Fat trimmings were the most variable by-product (10.1± 2.84%, CV = 28.0%. This report serves as a reference for future studies and could facilitate the commercial language for trading beef cuts between the countries involved

  15. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  16. Genetic programming in microorganisms

    Energy Technology Data Exchange (ETDEWEB)

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  17. Systematic review automation technologies

    Science.gov (United States)

    2014-01-01

    Systematic reviews, a cornerstone of evidence-based medicine, are not produced quickly enough to support clinical practice. The cost of production, availability of the requisite expertise and timeliness are often quoted as major contributors for the delay. This detailed survey of the state of the art of information systems designed to support or automate individual tasks in the systematic review, and in particular systematic reviews of randomized controlled clinical trials, reveals trends that see the convergence of several parallel research projects. We surveyed literature describing informatics systems that support or automate the processes of systematic review or each of the tasks of the systematic review. Several projects focus on automating, simplifying and/or streamlining specific tasks of the systematic review. Some tasks are already fully automated while others are still largely manual. In this review, we describe each task and the effect that its automation would have on the entire systematic review process, summarize the existing information system support for each task, and highlight where further research is needed for realizing automation for the task. Integration of the systems that automate systematic review tasks may lead to a revised systematic review workflow. We envisage the optimized workflow will lead to system in which each systematic review is described as a computer program that automatically retrieves relevant trials, appraises them, extracts and synthesizes data, evaluates the risk of bias, performs meta-analysis calculations, and produces a report in real time. PMID:25005128

  18. Effects of environmental stressors on histone modifications and their relevance to carcinogenesis: a systematic review.

    NARCIS (Netherlands)

    Dik, S.; Scheepers, P.T.J.; Godderis, L.

    2012-01-01

    Carcinogenesis is a complex process involving both genetic and epigenetic mechanisms. The cellular molecular epigenetic machinery, including histone modifications, is associated with changes in gene expression induced by exposure to environmental agents. In this paper, we systematically reviewed

  19. Improving early detection of gastric cancer: a novel systematic alphanumeric-coded endoscopic approach.

    Science.gov (United States)

    Emura, Fabian; Gralnek, Ian; Baron, Todd H

    2013-01-01

    Despite extensive worldwide use of standard esophagogastroduodenoscopy (EGD) examinations, gastric cancer (GC) is one of the most common forms of cancer and ranks as the most common malignant tumor in East Asia, Eastern Europe and parts of Latin America. Current limitations of using non systematic examination during standard EGD could be at least partially responsible for the low incidence of early GC diagnosis in countries with a high prevalence of the disease. Originally proposed by Emura et al., systematic alphanumeric-coded endoscopy (SACE) is a novel method that facilitates complete examination of the upper GI tract based on sequential systematic overlapping photo-documentation using an endoluminal alphanumeric-coded nomenclature comprised of eight regions and 28 areas covering the entire surface upper GI surface. For precise localization or normal or abnormal areas, SACE incorporates a simple coordinate system based on the identification of certain natural axes, walls, curvatures and anatomical endoluminal landmarks. Efectiveness of SACE was recently demonstrated in a screening study that diagnosed early GC at a frequency of 0.30% (2/650) in healthy, average-risk volunteer subjects. Such a novel approach, if uniformly implemented worldwide, could significantly change the way we practice upper endoscopy in our lifetimes.

  20. On mysterious occurrence of butterflies in the genus Delias at Jinmen Islands, with clarification on the nomenclature of D. pasithoe (Linnaeus, 1767) and D. acalis (Godart, 1819) in southern China.

    Science.gov (United States)

    Hsu, Yu-Feng; Huang, Hang-Chi; Lu, Chen-Chih

    2017-06-11

    In recent years, a considerable number of pierid butterflies of the genus Delias have been found from Jinmen Islands, where no available hostplants grow, rendering a proof of cross sea water migration of these butterflies. It is suggested here that these butterflies come from nearby continent of eastern China, visiting the islands for nectar acquisition in seasons when nectar is in short supply because they mostly show up in autumn months. Samples obtained during the survey contained two species, namely Delias pasithoe (Linnaeus, 1767) and Delias acalis (Godart, 1819). Subspecific names applied to both species in eastern China appear to involve nomenclatural problems, with erroneous usage in recent literature.

  1. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  2. Nomenclatura Zoológica: oportunidades y desafíos en la era digital Zoological Nomenclature: opportunities and challenges in the digital age

    Directory of Open Access Journals (Sweden)

    Luis E. Acosta

    2007-12-01

    Full Text Available A lo largo de su historia, el Código Internacional de Nomenclatura Zoológica necesitó adaptar sus reglas a realidades cambiantes, sin afectar las metas de universalidad y estabilidad de los nombres. En años recientes, los rápidos desarrollos en informática y el uso de Internet han promovido desafíos mayores, que renovaron las discusiones en aspectos fundamentales, como el concepto de publicación y los criterios de disponibilidad. En este artículo se presentan una breve reseña, un marco conceptual y algunos comentarios sobre propuestas de modificación al Código, que actualmente están en discusión. Éstas abarcan desde la validez de la publicación electrónica, hasta la obligatoriedad del registro de nombres en una base de datos de acceso abierto (el ZooBank, como requisito adicional de disponibilidad. Se analizan la utilidad, la necesidad y posibilidades de implementación de la iniciativa, su importancia para facilitar el conocimiento taxonómico, así como sus eventuales efectos sobre la libertad de pensamiento y acción del taxónomo.Along its history, the International Code of Zoological Nomenclature has needed to adapt its rules to changing realities, without affecting the goals of universality and stability of names. In recent years, major challenges have been promoted by rapid developments in the field of information technology and the use of Internet, which renewed the discussions in some fundamental issues, like the concept of publication and the criteria of availability. This article provides a brief account, a conceptual framework and some comments on several proposed changes to the Code, currently under discussion. These proposals range from the validity of electronic publications, to the establishment of the mandatory register in an open-access data base, the ZooBank, as an additional requirement to availability. The usefulness, need and possibilities for the implementation of the initiative, its importance to help the

  3. Origines de la nomenclature astrale

    Science.gov (United States)

    Duchesne-Guillemin, J.

    Within a survey of the Indo-European, Sumero-Babylonian, Greek, Arabic, and modern origins of the names of the constellations, stars, planets, satellites, asteroids, etc., an explanation is offered of the Omega sign used in Greek horoscopes for the lunar nodes but already appearing on Babylonian reliefs. Its origin is traced back to the Sumerian constellations of the Yoke, later called the Dragon.

  4. Can Communicating Personalised Disease Risk Promote Healthy Behaviour Change? A Systematic Review of Systematic Reviews.

    Science.gov (United States)

    French, David P; Cameron, Elaine; Benton, Jack S; Deaton, Christi; Harvie, Michelle

    2017-10-01

    The assessment and communication of disease risk that is personalised to the individual is widespread in healthcare contexts. Despite several systematic reviews of RCTs, it is unclear under what circumstances that personalised risk estimates promotes change in four key health-related behaviours: smoking, physical activity, diet and alcohol consumption. The present research aims to systematically identify, evaluate and synthesise the findings of existing systematic reviews. This systematic review of systematic reviews followed published guidance. A search of four databases and two-stage screening procedure with good reliability identified nine eligible systematic reviews. The nine reviews each included between three and 15 primary studies, containing 36 unique studies. Methods of personalising risk feedback included imaging/visual feedback, genetic testing, and numerical estimation from risk algorithms. The reviews were generally high quality. For a broad range of methods of estimating and communicating risk, the reviews found no evidence that risk information had strong or consistent effects on health-related behaviours. The most promising effects came from interventions using visual or imaging techniques and with smoking cessation and dietary behaviour as outcomes, but with inconsistent results. Few interventions explicitly used theory, few targeted self-efficacy or response efficacy, and a limited range of Behaviour Change Techniques were used. Presenting risk information on its own, even when highly personalised, does not produce strong effects on health-related behaviours or changes which are sustained. Future research in this area should build on the existing knowledge base about increasing the effects of risk communication on behaviour.

  5. Genetic variants in CHI3L1 influencing YKL-40 levels

    DEFF Research Database (Denmark)

    Kjaergaard, Alisa D; Johansen, Julia S; Nordestgaard, Børge G

    2013-01-01

    Despite its important role in many serious diseases, the genetic background for plasma YKL-40 has still not been systematically catalogued. Therefore, we aimed at identifying genetic variants in CHI3L1 influencing plasma YKL-40 levels in the general population.......Despite its important role in many serious diseases, the genetic background for plasma YKL-40 has still not been systematically catalogued. Therefore, we aimed at identifying genetic variants in CHI3L1 influencing plasma YKL-40 levels in the general population....

  6. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  7. Fungal Systematics and Evolution: FUSE 2

    NARCIS (Netherlands)

    Hernández-Restrepo, Margarita; Schumacher, René K.; Wingfield, Michael J.; Ahmad, Ishtiaq; Cai, Lei; Duong, Tuan A.; Edwards, Jacqueline; Gené, Josepa; Groenewald, Johannes Z.; Jabeen, Sana; Nasir Khalid, Abdul; Lombard, Lorenzo; Madrid, Hugo; Marin-Felix, Yasmina; Marincowitz, Seonju; Miller, Andrew N.; Rajeshkumar, Kunhiraman C.; Rashid, Abdul; Sarwar, Samina; Stchigel, Alberto M.; Taylor, Paul W.J.; Zhou, Nan; Crous, Pedro W.

    2016-01-01

    The present study introduces two new genera, 14 new species, five new combinations and 12 interesting host and/or geographical records. A majority of the fungi are Ascomycetes, but the study also includes a Basidiomycete, Xerocomellus fulvus described from Pakistan. Under single name nomenclature

  8. Testing the structure of a hydrological model using Genetic Programming

    Science.gov (United States)

    Selle, Benny; Muttil, Nitin

    2011-01-01

    SummaryGenetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that Genetic Programming can be used to test the structure of hydrological models and to identify dominant processes in hydrological systems. To test this, Genetic Programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, watertable depths and water ponding times during surface irrigation. Using Genetic Programming, a simple model of deep percolation was recurrently evolved in multiple Genetic Programming runs. This simple and interpretable model supported the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that Genetic Programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  9. Systematic text condensation

    DEFF Research Database (Denmark)

    Malterud, Kirsti

    2012-01-01

    To present background, principles, and procedures for a strategy for qualitative analysis called systematic text condensation and discuss this approach compared with related strategies.......To present background, principles, and procedures for a strategy for qualitative analysis called systematic text condensation and discuss this approach compared with related strategies....

  10. Genetic polymorphisms related to delirium tremens: a systematic review

    NARCIS (Netherlands)

    van Munster, Barbara C.; Korevaar, Johanna C.; de Rooij, Sophia E.; Levi, Marcel; Zwinderman, Aeilko H.

    2007-01-01

    BACKGROUND: Delirium tremens (DT) is one of the more severe complications of alcohol withdrawal (AW), with a 5 to 10% lifetime risk for alcohol-dependent patients. The 2 most important neurosystems involved in AW are gamma-aminobutyric acid and glutamate. It is unknown whether these neurosystems are

  11. Epidemiology and genetic diversity of Taenia asiatica: a systematic review.

    OpenAIRE

    Ale, Anita; Victor, Bjorn; Praet, Nicolas; Gabriël, Sarah; Speybroeck, Niko; Dorny, Pierre; Devleesschauwer, Brecht

    2014-01-01

    Taenia asiatica has made a remarkable journey through the scientific literature of the past 50 years, starting with the paradoxical observation of high prevalences of T. saginata-like tapeworms in non-beef consuming populations, to the full description of its mitochondrial genome. Experimental studies conducted in the 1980s and 1990s have made it clear that the life cycle of T. asiatica is comparable to that of T. saginata, except for pigs being the preferential intermediate host and liver th...

  12. Quasi-experimental Studies in the Fields of Infection Control and Antibiotic Resistance, Ten Years Later: A Systematic Review.

    Science.gov (United States)

    Alsaggaf, Rotana; O'Hara, Lyndsay M; Stafford, Kristen A; Leekha, Surbhi; Harris, Anthony D

    2018-02-01

    OBJECTIVE A systematic review of quasi-experimental studies in the field of infectious diseases was published in 2005. The aim of this study was to assess improvements in the design and reporting of quasi-experiments 10 years after the initial review. We also aimed to report the statistical methods used to analyze quasi-experimental data. DESIGN Systematic review of articles published from January 1, 2013, to December 31, 2014, in 4 major infectious disease journals. METHODS Quasi-experimental studies focused on infection control and antibiotic resistance were identified and classified based on 4 criteria: (1) type of quasi-experimental design used, (2) justification of the use of the design, (3) use of correct nomenclature to describe the design, and (4) statistical methods used. RESULTS Of 2,600 articles, 173 (7%) featured a quasi-experimental design, compared to 73 of 2,320 articles (3%) in the previous review (Pquasi-experimental design; and 68 (39%) identified their design using the correct nomenclature. In addition, 2-group statistical tests were used in 75 studies (43%); 58 studies (34%) used standard regression analysis; 18 (10%) used segmented regression analysis; 7 (4%) used standard time-series analysis; 5 (3%) used segmented time-series analysis; and 10 (6%) did not utilize statistical methods for comparisons. CONCLUSIONS While some progress occurred over the decade, it is crucial to continue improving the design and reporting of quasi-experimental studies in the fields of infection control and antibiotic resistance to better evaluate the effectiveness of important interventions. Infect Control Hosp Epidemiol 2018;39:170-176.

  13. The relationship between genetic risk variants with brain structure and function in bipolar disorder

    DEFF Research Database (Denmark)

    Pereira, Licia P; Köhler, Cristiano A; de Sousa, Rafael T

    2017-01-01

    Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases fro...

  14. Preliminary results on observation of genetic relations among the exotic cosmic-ray phenomena

    International Nuclear Information System (INIS)

    Hasegawa, S.

    1984-01-01

    In order to see the genetic hypothesis on the exotic interactions, a systematic study is made for the Chiron-type families on their secondary interactions in the emulsion chamber, and the results are presented. (L.C.) [pt

  15. The Distinct Genetics of Carbonaceous and Non-Carbonaceous Meteorites Inferred from Molybdenum Isotopes

    Science.gov (United States)

    Budde, G.; Burkhardt, C.; Kleine, T.

    2017-07-01

    Mo isotope systematics manifest a fundamental dichotomy in the genetic heritage of carbonaceous and non-carbonaceous meteorites. We discuss its implications in light of the most recent literature data and new isotope data for primitive achondrites.

  16. Towards Transgenic Primates: What can we learn from mouse genetics?

    Institute of Scientific and Technical Information of China (English)

    KUANG Hui; WANG Phillip L.; TSIEN Joe Z.

    2009-01-01

    Considering the great physiological and behavioral similarities with humans, monkeys represent the ideal models not only for the study of complex cognitive behavior but also for the precUnical research and development of novel therapeutics for treating human diseases. Various powerful genetic tech-nologies initially developed for making mouse models are being explored for generating transgenic primate models. We review the latest genetic engineering technologies and discuss the potentials and limitations for systematic production of transgenic primates.

  17. A compendium of genetic variant data

    DEFF Research Database (Denmark)

    Cardoso, Joao; Schöning, Lars Yannik; Herrgard, Markus

    2014-01-01

    database where the physiological characteristics of mutants can easily be queried. This database contains the experimental information sorted into normalized units. The aim of this repository is to become a golden-­standard of genetic variation information for microorganisms, providing standardized data......Laboratory strains are genetically unstable if exposed to selective pressure as encountered, for example, during molecular cloning, fermentation, or adaptive laboratory evolution experiments. This genetic variation is the consequence of an adaptation process of the microorganism to stress...... the effects of those variations, it is necessary to collect and sort this genomic information in an organized fashion, including all relevant physiological data (e.g., growth rate, metabolomics, proteomics, transcriptomics, etc.). We propose a systematic way to collect heterogeneous datasets into a coherent...

  18. Classified installations. Two centuries of legislation and nomenclature. Tome 1 - The foundational decree of October 15, 1810 and the law of December 19, 1917: the progressive protection of third parties rights. Tome 2 - The law of July 19, 1976: the accelerated regression of the environmental law

    International Nuclear Information System (INIS)

    Ullmann, Gabriel

    2016-01-01

    The imperial decree of October 15, 1810 established the first national regulation on classified facilities. It laid the ground for French law on the industrial environment by creating the first nomenclature. An analysis of over 140 nomenclature texts published since then has provided insight into a certain number of societal developments. Indeed, the nomenclature System has been a powerful social marker for more than two centuries. Furthermore, the effectiveness of the law has depended greatly on the nomenclature System. While its original objective was to foster freedom of enterprise, it gradually evolved towards a law protecting third parties, in particular regarding property rights. The Act of December 19, 1917 on classified facilities further strengthened this purpose, generally placing the focus first on third parties and then on the environment. The act also favored workers' health and safety, which had been ignored until then. On the other hand, the act abolished the principle of preliminary authorization by introducing a declaration scheme for the benefit of operators (Volume 1). The Act of July 19, 1976 on classified facilities for environmental protection took over and modernized all of these provisions but without really introducing any innovation. The nomenclature System rapidly underwent a series of transformations that generally resulted in the decommissioning of numerous facilities. The declaration scheme continued to expand. However, the creation of the registration scheme in 2009, which is somewhere between the declaration and authorization schemes, has led to a dramatic reduction in the reach of the latter. The transposition of recent European directives has spurred this process by introducing a new nomenclature. Never before has such a regression on environmental law been reached, especially since it is combined with a marked separation between classified facilities and the receiving environment (Volume 2). (author)

  19. Human diseases with genetically altered DNA repair processes

    International Nuclear Information System (INIS)

    Cleaver, J.E.; Bootsma, D.; Friedberg, E.

    1975-01-01

    DNA repair of single-strand breaks (produced by ionizing radiation) and of base damage (produced by ultraviolet (uv) light) are two repair mechanisms that most mammalian cells possess. Genetic defects in these repair mechanisms are exemplified by cells from the human premature-aging disease, progeria, which fail to rejoin single-strand breaks, and the skin disease, xeroderma pigmentosum (XP), which exhibits high actinic carcinogenesis and involves failure to repair base damage. In terms of the response of XP cells, many chemical carcinogens can be classified as either x-ray-like (i.e., they cause damage that XP cells can repair) or uv-like (i.e., they cause damage that XP cells cannot repair). The first group contains some of the more strongly carcinogenic chemicals (e.g., alkylating agents). XP occurs in at least two clinical forms, and somatic cell hybridization indicates at least three complementation groups. In order to identify cell lines from various different laboratories unambiguously, a modified nomenclature of XP lines is proposed. (U.S.)

  20. Human diseases with genetically altered DNA repair processes

    International Nuclear Information System (INIS)

    Cleaver, J.E.; Bootsma, D.; Friedberg, E.

    1975-01-01

    DNA repair of single-strand breaks (produced by ionizing radiation) and of base damage (produced by ultraviolet (UV) light) are two repair mechanisms that most mammalian cells possess. Genetic defects in these repair mechanisms are exemplified by cells from the human premature-aging disease, progeria, which fail to rejoin single-strand breaks, and the skin disease, xeroderma pigmentosum (XP), which exhibits high actinic carcinogenesis and involves failure to repair base damage. In terms of the response of XP cells, many chemical carcinogens can be classified as either X-ray-like (i.e., they cause damage that XP cells can repair) or UV-like (i.e., they cause damage that XP cells cannot repair). The first group contains some of the more strongly carcinogenic chemicals (e.g., alkylating agents). XP occurs in at least two clinical forms, and somatic cell hybridization indicates at least three complementation groups. In order to identify cell lines from various different laboratories unambiguously, a modified nomenclature of XP lines is proposed

  1. Stratigraphy of the Silurian outcrop belt on the east side of the Cincinnati Arch in Kentucky, with revisions in the nomenclature

    Science.gov (United States)

    McDowell, Robert C.

    1983-01-01

    Silurian rocks form a narrow arcuate outcrop belt about 100 mi long on the east side of the Cincinnati Arch in Kentucky. They range from as much as 300 ft thick in the north to a pinchout edge in the south. The nomenclature of this sequence is revised to reflect mappability and lithologic uniformity on the basis of detailed mapping at a scale of 1:24,000 by the U.S. Geological Survey in cooperation with the Kentucky Geological Survey. The Silurian rocks are divided into two parts: the Crab Orchard Group, raised in rank from Crab Orchard Formation and redefined, in the lower part of the Silurian section, and Bisher Dolomite in the upper part of the section. The Crab Orchard Group is subdivided into the Drowning Creek Formation (new name) at the base of the Silurian, overlain by the Alger Shale (adopted herein) south of Fleming County and by the Estill Shale (elevated to formational rank) north of Bath County. The Brassfield Member (reduced in rank from Brassfield Dolomite or Formation) and the Plum Creek Shale and Oldham Members of the former Crab Orchard Formation are included as members of the Drowning Creek; the Lulbegrud Shale, Waco, and Estill Shale Members of the former Crab Orchard Formation are now included in the Alger. The Drowning Creek Formation, 20 to 50 ft thick, is composed mainly of gray fine to coarse-grained dolomite with shale interbeds. The dolomite beds average several inches thick, with bedding surfaces that are locally smooth but generally irregular and are fossiliferous in many places; fossils include brachiopods, crinoid columnals, horn corals, colonial corals, trilobites, pelecypods, and bryozoans. The shale interbeds average several inches thick, except for its Plum Creek Shale Member which is entirely shale and as much as 12 ft thick, and are most abundant in the upper half of the formation. The members of the Drowning Creek intergrade and are indistinguishable in the northern part of the area. The Alger Shale, as much as 170 feet thick

  2. DNA Commission of the International Society for Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

    DEFF Research Database (Denmark)

    Gusmão, L; Butler, John M; Carracedo, Angel

    2006-01-01

    The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome po......The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y......-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and a numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles...

  3. DNA Commission of the International Society for Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

    DEFF Research Database (Denmark)

    Gusmão, L; Butler, J M; Carracedo, A

    2006-01-01

    The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome po......The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y......-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles...

  4. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  5. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  6. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  7. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  8. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  9. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  10. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  11. Genetics and Man

    Science.gov (United States)

    Carter, C. O.

    1973-01-01

    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  12. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  13. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  14. A phylogeny-based global nomenclature system and automated annotation tool for H1 hemagglutinin genes from swine influenza A viruses

    Science.gov (United States)

    The H1 subtype of influenza A viruses (IAV) has been circulating in swine since the 1918 human influenza pandemic. Over time, and aided by further introductions from non-swine hosts, swine H1 have diversified into three genetic lineages. Due to limited global data, these H1 lineages were named based...

  15. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  16. Genetic Pathways to Insomnia

    OpenAIRE

    Mackenzie J. Lind; Philip R. Gehrman

    2016-01-01

    This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene), followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS). Next, we summarize the most recent gene identif...

  17. Genetic diversity of the Acropora-associated hydrozoans: new insight from the Red Sea

    KAUST Repository

    Maggioni, Davide

    2017-01-21

    To date, four nominal species and several other unidentified species of Zanclea hydrozoans are known to live symbiotically with scleractinians, and recent surveys reported this association also in the Red Sea. Previous molecular studies showed that each coral genus involved in this association hosts only one species or molecular clade of Zanclea, with the only exception being the genus Acropora, which hosts at least two Zanclea species. Moreover, some of the detected genetic lineages were morphologically undistinguishable in the polyp stage, suggesting the presence of cryptic species. In this study, we investigated the morphology and genetic diversity of Acropora-associated Zanclea specimens collected in previous studies in Egypt and Israel, as well as new samples collected in Saudi Arabia. Based on the current data, all the analysed samples were morphologically identical to Zanclea gallii, a species associated with Acropora corals from the Maldives. However, molecular analyses separated the samples collected in the Red Sea from all other coral-associated hydroids. Therefore, phylogenetic reconstructions, haplotype networks, genetic distance analyses and distribution data allowed us to identify a previously unknown cryptic species of Acropora-associated hydroid, here named Zanclea gallii IIa, following a recently proposed molecular nomenclature.

  18. Genetic associations with asthma and virus-induced wheezing: a systematic review Associação genética da asma e da sibilância induzida por vírus: uma revisão sistemática

    Directory of Open Access Journals (Sweden)

    Leonardo Araujo Pinto

    2009-12-01

    Full Text Available Various wheezing phenotypes can be identified based on differences in natural histories, risk factors and responses to treatment. In epidemiologic studies, atopic asthma or virus-induced wheezing can be discriminated by the presence or the absence of sensitization to allergens. Children with asthma have been shown to present lower levels of lung function. Patients with viral respiratory infections evolve from normal lung function to enhanced airway reactivity. The objective of this study was to identify genes and polymorphisms associated with different wheezing phenotypes. Using data obtained from the Genetic Association Database, we systematically reviewed studies on genes and polymorphisms that have been associated with virus-induced wheezing or atopic asthma. The research was carried out in February of 2009. Genes associated with the studied outcomes in more than three studies were included in the analysis. We found that different genes and loci have been associated with virus-induced wheezing or atopic asthma. Virus-induced wheezing has frequently been associated with IL-8 polymorphisms, whereas atopic asthma and atopy have frequently been associated with Th2 cytokine gene (CD14 and IL-13 polymorphisms on chromosome 5. This review provides evidence that different wheezing disorders in childhood can be differently affected by genetic variations, considering their role on airway inflammation and atopy. Future studies of genetic associations should consider the different wheezing phenotypes in infancy. In addition, stratified analyses for atopy can be useful for elucidating the mechanisms of the disease.Diversos fenótipos de sibilância têm sido identificados com base em diferenças na história natural, fatores de risco e resposta ao tratamento. Em estudos epidemiológicos, a asma atópica ou sibilância induzida por vírus pode ser discriminada pela presença ou ausência de sensibilização a alérgenos. As crianças com asma apresentam n

  19. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  20. Phenylketonuria Genetic Screening Simulation

    Science.gov (United States)

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  1. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  2. Indirect Genetic Effects for group-housed animals

    DEFF Research Database (Denmark)

    Alemu, Setegn Worku

    This thesis investigated social interactions in group-housed animals. The main findings of this thesis: 1) Statistical methods to estimate indirect genetic effects when interactions differ between kin vs. non-kin were developed. 2) Indirect genetic effects contribute a substantial amount...... of heritable variation for bite mark traits in group-housed min. 3) Indirect genetic effects estimation needs to take into account systematic interactions due to sex or kin for bite mark trait in group-housed min. 4) Genomic selection can be used to increase the response to selection for survival time in Brown...

  3. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

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

  4. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma) in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Science.gov (United States)

    Sánchez-de la Vega, Guillermo; Castellanos-Morales, Gabriela; Gámez, Niza; Hernández-Rosales, Helena S.; Vázquez-Lobo, Alejandra; Aguirre-Planter, Erika; Jaramillo-Correa, Juan P.; Montes-Hernández, Salvador; Lira-Saade, Rafael; Eguiarte, Luis E.

    2018-01-01

    Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites) to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs) for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago) to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma). Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST) among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango). We detected low levels of gene

  6. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Directory of Open Access Journals (Sweden)

    Guillermo Sánchez-de la Vega

    2018-03-01

    Full Text Available Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma. Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango. We detected low

  7. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  8. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  9. All about Genetics (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español All About Genetics KidsHealth / For Parents / All About Genetics What's in ... the way they pick up special laboratory dyes. Genetic Problems Errors in the genetic code or "gene ...

  10. Clinical and genetic examinations of children with one parent whose gonads were therapeutically irradiated before conception

    International Nuclear Information System (INIS)

    Neumeister, K.; Herrmann, T.; Koelling, H.L.; Oelssner, W.; Schoeneich, R.

    1978-01-01

    A systematic program for investigating genetic radiation hazards is outlined. The program is aimed at obtaining clinical, genetic and biochemical data on children with one parent whose gonads were exposed to therapeutic radiation before conception. First results obtained show that there is no contraindication against radiotherapy. However, it is recommended to consult a geneticist in such cases. (author)

  11. Genetic epidemiology of coronary artery disease: an Asian Indian ...

    Indian Academy of Sciences (India)

    The present review aims to consolidate the available literature on the genetics of. CAD in Asian Indians ... India and the US who were participating in the Sikh Diabetes ..... to undertake systematic large-scale studies in order to under- stand the ...

  12. Population Genetic Status of the Western Indian Ocean

    African Journals Online (AJOL)

    Abstract—Population genetics offers a useful technique for studying the population structure of marine organisms and has relevance to both systematics and the conservation of biodiversity. The Western Indian Ocean (WIO) is faced with increasing evidence of degradation and effective management initiatives are needed to ...

  13. Genetics of rheumatoid arthritis conributes to biology and drug discovery

    NARCIS (Netherlands)

    Okada, Yukinori; Wu, Di; Trynka, Gosia; Raj, Towfique; Terao, Chikashi; Ikari, Katsunori; Kochi, Yuta; Ohmura, Koichiro; Suzuki, A.; Yoshida, S.; Graham, R.R.; Manoharan, A.; Ortmann, W.; Bhangale, T.; Denny, J.C.; Carroll, R.J.; Eyler, A.E.; Greenberg, J.D.; Kremer, J.M.; Pappas, D.A.; Jiang, L.; Yin, L.; Ye, L.; Su, D.F.; Yang, J.; Xie, G.; Keystone, E.; Westra, H.J.; Esko, T.; Metspalu, A.; Zhou, X.; Gupta, N.; Mirel, D.; Stahl, Eli A.; Diogo, D.; Cui, J.; Liao, K.; Guo, M.H.; Myouzen, K.; Kawaguchi, T.; Coenen, M.J.; van Riel, P.L.; van de Laar, Mart A.F.J.; Guchelaar, H.J.; Huizinga, T.W.; Dieudé, P.; Mariette, X.; Louis Bridges Jr, S.; Zhernakova, A.; Toes, R.E.; Tak, P.P.; Miceli-Richard, C.; Bang, S.Y.; Lee, H.S.; Martin, J.; Gonzales-Gay, M.A.; Rodriguez-Rodriguez, L.; Rantapää-Dhlqvist, S.; Arlestig, L.; Choi, H.K.; Kamatani, Y.; Galan, P.; Lathrop, M.; Eyre, S.; Bowes, J.; Barton, A.; de Vries, N.; Moreland, L.W.; Criswell, L.A.; Karlson, E.W.; Taniguchi, A.; Yamada, R; Kubo, M.; Bae, S.C.; Worthington, J.; Padyukov, L.; Klareskog, L.; Gregersen, Peter K.; Raychaudhuri, S.; Stranger, B.E.; de Jager, P.L.; Franke, L.; Visscher, P.M.; Brown, M.A.; Yamanaka, H.; Mimori, T.; Takahashi, A.; Xu, H.; Behrens, T.W.; Siminovitch, K.A.; Momohara, S.; Matsuda, F.; Yamamoto, K.; Plenge, Robert M.

    2013-01-01

    A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA)1. Here we performed

  14. Testing the Structure of Hydrological Models using Genetic Programming

    Science.gov (United States)

    Selle, B.; Muttil, N.

    2009-04-01

    Genetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that genetic programming can be used to test the structure hydrological models and to identify dominant processes in hydrological systems. To test this, genetic programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, water table depths and water ponding times during surface irrigation. Using genetic programming, a simple model of deep percolation was consistently evolved in multiple model runs. This simple and interpretable model confirmed the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that genetic programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  15. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

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

  16. Molecular genetics made simple

    Science.gov (United States)

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

    2012-01-01

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

  17. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  18. Impact of life history traits on gene flow: A multispecies systematic review across oceanographic barriers in the Mediterranean Sea

    KAUST Repository

    Pascual, Marta; Rives, Borja; Schunter, Celia Marei; Macpherson, Enrique

    2017-01-01

    . We assessed the relevance of seven major oceanographic fronts on species connectivity while considering their dispersal capacity and life strategy.We systematically reviewed the scientific articles reporting population genetic differentiation along

  19. Genetic counseling and the disabled: feminism examines the stance of those who stand at the gate.

    Science.gov (United States)

    Patterson, Annette; Satz, Martha

    2002-01-01

    This essay examines the possible systematic bias against the disabled in the structure and practice of genetic counseling. Finding that the profession's "nondirective" imperative remains problematic, the authors recommend that methodology developed by feminist standpoint epistemology be used to incorporate the perspective of disabled individuals in genetic counselors' education and practice, thereby reforming society's view of the disabled and preventing possible negative effects of genetic counseling on the self-concept and material circumstance of disabled individuals.

  20. On two reports associated with James Wood-Mason and Alfred William Alcock published by the Indian Museum and the Indian Marine Survey between 1890 and 1891: implications for malacostracan nomenclature.

    Science.gov (United States)

    Huys, Rony; Low, Martyn E Y; De Grave, Sammy; Ng, Peter K L; Clark, Paul F

    2014-01-29

    Two rare documents associated with the Indian Museum and the Indian Marine Survey for the administrative year April 1890 to March 1891 have been examined and found to have nomenclatural consequences for malacostracan crustaceans. Even though they constitute available published works according to the International Code for Zoological Nomenclature, these reports have rarely been cited. Dating these two publications is of importance as they make decapod scientific names available and, in a few instances, describe the same taxa. After searching the collections deposited in the Asian and African Room, British Library, the Administration Report of the Indian Marine for the year April 1890 to March 1891 could be dated with some degree of certainty as 25 August 1891. In contrast, dating the Indian Museum Annual Report proved more difficult because after examination of copies held by the General Library in the Natural History Museum, London, it was evident that not all of these reports were consistently published on time to meet an end of year deadline. However, the publication of volume XXII of the Indian Museum Annual Report for the year April 1890 to March 1891 appeared to be contemporary with the year printed at the bottom of the title page. As no exact date could be established with confidence, the publication date for this volume was fixed as 31 December 1891 in accordance with ICZN Art. 21.3.2. Therefore the Administration Report of the Indian Marine (published 25 August 1891) is considered to take precedence over the Indian Museum Annual Report (published 31 December 1891) and as such the names made available in the former take priority. As original copies of the Administration Report of the Indian Marine are not readily available in most libraries and few scientists have actually had access to these publications, the relevant Appendix No. XIII, in which the names of several malacostracan taxa are made available, is reproduced here. Since the appendix is not

  1. Biology and Systematics of Echinococcus.

    Science.gov (United States)

    Thompson, R C A

    2017-01-01

    The biology of Echinococcus, the causative agent of echinococcosis (hydatid disease) is reviewed with emphasis on the developmental biology of the adult and metacestode stages of the parasite. Major advances include determining the origin, structure and functional activities of the laminated layer and its relationship with the germinal layer; and the isolation, in vitro establishment and characterization of the multipotential germinal cells. Future challenges are to identify the mechanisms that provide Echinococcus with its unique developmental plasticity and the nature of activities at the parasite-host interface, particularly in the definitive host. The revised taxonomy of Echinococcus is presented and the solid nomenclature it provides will be essential in understanding the epidemiology of echinococcosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  3. Intellectual Disability in Children; a Systematic Review

    Directory of Open Access Journals (Sweden)

    Dasteh Goli N.*BSc

    2016-03-01

    Full Text Available Abstract Aims: Intellectual disability is a condition characterised by the inability of a person to undertake normal psychological activities. The purpose of this study was to systematically review the intellectual disability in children and discuss the implications of different environmental and genetic factors, which describe particular categories of intellectual disable cases. Information & Methods: This systematic review was performed in 2014 by searching the existing literature in PubMed database in the scope of “intellectual disability in children”. 38 articles written from 1987 to 2014 were selected and surveyed for review. Findings: The prevalence of ID in the general population is estimated to be approximately 1%. ID disorder is multi-causal, encompassing all factors that interfere with brain development and functioning. Causes usually are classified according to the time of the insult, as prenatal, perinatal, and postnatal or acquired. Some causes, such as environmental toxins or endocrine disorders, may act at multiple times. Others, such as genetic disorders, have different manifestations during postnatal development. The outcome for ID is variable and depends upon the aetiology, associated conditions, and environmental and social factors. The goals of management of ID are to strengthen areas of reduced function, minimize extensive deterioration in mental cognitive and adaptability, and lastly, to promote optimum or normal functioning of the individuals in their community. Conclusion: Prominent features of ID include significant failures in both intellectual functioning and adaptive behaviour, which comprises daily social and practical life skills, commencing earlier in life.

  4. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  5. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  6. Tracheobronchial puncture-site nodular reaction (TPNR following endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA: Systematic review of case reports

    Directory of Open Access Journals (Sweden)

    Karan Madan

    2017-01-01

    Full Text Available Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA is a minimally invasive and efficacious diagnostic modality for lung cancer staging and evaluation of undiagnosed mediastinal lymphadenopathy. Procedure-related complications are uncommon. We herein report an infrequently described phenomenon following EBUS-TBNA in which two patients developed nodular granulation tissue at the tracheobronchial puncture site. On systematic review, we found description of such phenomena by terminologies such as endobronchial inflammatory polyp, granuloma, and endobronchial mass. The endobronchial inflammatory polyp has been one of the most commonly used terminologies for these; but in most cases, the classical features of an inflammatory polyp are lacking. We propose the term, tracheobronchial puncture-site nodular reaction (TPNR with further classification into granulomatous and nongranulomatous subtypes, for standardized reporting of such reactions following transbronchial needle aspiration procedures. Knowledge of this entity and standardized nomenclature shall help in better characterization of the outcomes and risk factors for the occurrence of these reactions.

  7. Perspectivas sistemáticas de Zamia (Zamiaceae en Megaméxico: de la taxonomía alfa a los códigos de barras genéticos Systematic perspectives on Zamia (Zamiaceae in Megamexico: from alpha taxonomy to genetic barcodes

    Directory of Open Access Journals (Sweden)

    Fernando Nicolalde-Morejón

    2011-06-01

    recent cytogenetic, ecological and population genetic studies. The objective of this work is to present updated information on the species of Zamia distributed in Megamexico, on the basis of a revision of herbarium specimens and fieldwork data. In addition, we emphasize that research is needed in some species complexes, in order to clarify their taxonomic limits. We discuss the need to conduct population-level research with molecular data, according to the DNA barcoding approach. We conclude that the creation of a molecular database that functions as a 'DNA barcodes reference library' for all Zamia species will be useful for systematic aspects, particularly automatization of species identifications, both in the field and in biological collections. At the same time, such databases would be helpful for multiple social sectors that employ specialized taxonomic knowledge -for instance, the forestry industry, customs and conservationist bodies interested in the rapid and reliable diagnosis of species, particularly in the face of illegal trade of specimens.

  8. Genetic algorithm optimization of atomic clusters

    International Nuclear Information System (INIS)

    Morris, J.R.; Deaven, D.M.; Ho, K.M.; Wang, C.Z.; Pan, B.C.; Wacker, J.G.; Turner, D.E.; Iowa State Univ., Ames, IA

    1996-01-01

    The authors have been using genetic algorithms to study the structures of atomic clusters and related problems. This is a problem where local minima are easy to locate, but barriers between the many minima are large, and the number of minima prohibit a systematic search. They use a novel mating algorithm that preserves some of the geometrical relationship between atoms, in order to ensure that the resultant structures are likely to inherit the best features of the parent clusters. Using this approach, they have been able to find lower energy structures than had been previously obtained. Most recently, they have been able to turn around the building block idea, using optimized structures from the GA to learn about systematic structural trends. They believe that an effective GA can help provide such heuristic information, and (conversely) that such information can be introduced back into the algorithm to assist in the search process

  9. Swaddling: A Systematic Review

    NARCIS (Netherlands)

    van Sleuwen, Bregje E.; Engelberts, Adèle C.; Boere-Boonekamp, Magdalena M.; Kuis, Wietse; Schulpen, Tom W.J.

    2007-01-01

    Swaddling was an almost universal child-care practice before the 18th century. It is still tradition in certain parts of the Middle East and is gaining popularity in the United Kingdom, the United States, and the Netherlands to curb excessive crying. We have systematically reviewed all articles on

  10. Systematic, Cooperative Evaluation.

    Science.gov (United States)

    Nassif, Paula M.

    Evaluation procedures based on a systematic evaluation methodology, decision-maker validity, new measurement and design techniques, low cost, and a high level of cooperation on the part of the school staff were used in the assessment of a public school mathematics program for grades 3-8. The mathematics curriculum was organized into Spirals which…

  11. Swaddling : A systematic review

    NARCIS (Netherlands)

    van Sleuwen, Bregje E.; Engelberts, Adele C.; Boere-Boonekamp, Magda M.; Kuis, Wietse; Schulpen, Tom W. J.; L'Hoir, Monique P.

    2007-01-01

    Swaddling was an almost universal child-care practice before the 18th century. It is still tradition in certain parts of the Middle East and is gaining popularity in the United Kingdom, the United States, and the Netherlands to curb excessive crying. We have systematically reviewed all articles on

  12. Serbia : Systematic Country Diagnostic

    OpenAIRE

    World Bank Group

    2015-01-01

    This Systematic Country Diagnostic (SCD) aims to identify the major constraints on and opportunities for sustaining poverty reduction and shared prosperity in Serbia. The SCD serves as the analytic foundation on which the World Bank Group and the Government of Serbia will define a new Country Partnership Framework for FY2016 to FY2020. It is based on the best possible analysis, drawing on ...

  13. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  14. How genetics works? An illustrative case report

    Directory of Open Access Journals (Sweden)

    Vikas Khetan

    2016-01-01

    Full Text Available In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally. The left eye showed mild macular temporal dragging of the vessels and 360° of peripheral laser scars. In addition he also had some characteristic systemic features such as developmental delay, obesity, dysmorphic facies and tapered fingers. Using this case as an example, we present a systematic, logical approach to a patient with a possible genetic disorder. The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein.

  15. Systematic evaluation of skeletal mechanical function.

    Science.gov (United States)

    Smith, Lauren; Bigelow, Erin M R; Jepsen, Karl J

    2013-06-01

    Many genetic and environmental perturbations lead to measurable changes in bone morphology, matrix composition, and matrix organization. The skeletal system is highly adaptive, such that genetic and environmental perturbations affecting one trait are often accompanied by compensatory changes in other traits. This adaptation should be considered when attempting to draw meaningful conclusions about the role of a gene, for example. The challenge is to figure out which alterations can be attributed to the perturbation and which result from adaptive changes associated with establishing mechanical function. The goal of this chapter is to describe straight-forward biomechanical methods that can be used to determine whether a genetic or environmental perturbation affected bone strength. We introduce a systematic method for evaluating how bone strength was altered in the context of morphology and tissue-level mechanical properties, which are determined in large part from matrix composition, matrix organization, and porosity. We present this work as a first step toward screening mice for a phenotypic effect and for establishing the associated biomechanical mechanism by which function was altered. The outcome of these analyses generally provides insight into the next set of experiments required to further connect the cellular perturbation with the functional changes. The protocols were written to enable researchers without a background in engineering to conduct the assays or to enable researchers to better understand the outcomes of similar assays conducted by colleagues knowledgeable in engineering.

  16. Neural systems language: a formal modeling language for the systematic description, unambiguous communication, and automated digital curation of neural connectivity.

    Science.gov (United States)

    Brown, Ramsay A; Swanson, Larry W

    2013-09-01

    Systematic description and the unambiguous communication of findings and models remain among the unresolved fundamental challenges in systems neuroscience. No common descriptive frameworks exist to describe systematically the connective architecture of the nervous system, even at the grossest level of observation. Furthermore, the accelerating volume of novel data generated on neural connectivity outpaces the rate at which this data is curated into neuroinformatics databases to synthesize digitally systems-level insights from disjointed reports and observations. To help address these challenges, we propose the Neural Systems Language (NSyL). NSyL is a modeling language to be used by investigators to encode and communicate systematically reports of neural connectivity from neuroanatomy and brain imaging. NSyL engenders systematic description and communication of connectivity irrespective of the animal taxon described, experimental or observational technique implemented, or nomenclature referenced. As a language, NSyL is internally consistent, concise, and comprehensible to both humans and computers. NSyL is a promising development for systematizing the representation of neural architecture, effectively managing the increasing volume of data on neural connectivity and streamlining systems neuroscience research. Here we present similar precedent systems, how NSyL extends existing frameworks, and the reasoning behind NSyL's development. We explore NSyL's potential for balancing robustness and consistency in representation by encoding previously reported assertions of connectivity from the literature as examples. Finally, we propose and discuss the implications of a framework for how NSyL will be digitally implemented in the future to streamline curation of experimental results and bridge the gaps among anatomists, imagers, and neuroinformatics databases. Copyright © 2013 Wiley Periodicals, Inc.

  17. Quality of systematic reviews in pediatric oncology - A systematic review

    NARCIS (Netherlands)

    Lundh, Andreas; Knijnenburg, Sebastiaan L.; Jørgensen, Anders W.; van Dalen, Elvira C.; Kremer, Leontien C. M.

    2009-01-01

    Background: To ensure evidence-based decision making in pediatric oncology systematic reviews are necessary. The objective of our study was to evaluate the methodological quality of all currently existing systematic reviews in pediatric oncology. Methods: We identified eligible systematic reviews

  18. Genotator: A disease-agnostic tool for genetic annotation of disease

    Directory of Open Access Journals (Sweden)

    Jung Jae-Yoon

    2010-10-01

    data that remains current with the pace of research in the disease fields. Genotator's algorithm appropriately transforms query terms to match the input requirements of each targeted databases and accurately resolves named synonyms to ensure full coverage of the genetic results with official nomenclature. Genotator generates an excel-style output that is consistent across disease queries and readily importable to other applications.

  19. Genotator: a disease-agnostic tool for genetic annotation of disease.

    Science.gov (United States)

    Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

    2010-10-29

    fields. Genotator's algorithm appropriately transforms query terms to match the input requirements of each targeted databases and accurately resolves named synonyms to ensure full coverage of the genetic results with official nomenclature. Genotator generates an excel-style output that is consistent across disease queries and readily importable to other applications.

  20. Molecular phylogeny and systematics of the Echinostomatoidea Looss, 1899 (Platyhelminthes: Digenea).

    Science.gov (United States)

    Tkach, Vasyl V; Kudlai, Olena; Kostadinova, Aneta

    2016-03-01

    The Echinostomatoidea is a large, cosmopolitan group of digeneans currently including nine families and 105 genera, the vast majority parasitic, as adults, in birds with relatively few taxa parasitising mammals, reptiles and, exceptionally, fish. Despite the complex structure, diverse content and substantial species richness of the group, almost no attempt has been made to elucidate its phylogenetic relationships at the suprageneric level based on molecules due to the lack of data. Herein, we evaluate the consistency of the present morphology-based classification system of the Echinostomatoidea with the phylogenetic relationships of its members based on partial sequences of the nuclear lsrRNA gene for a broad diversity of taxa (80 species, representing eight families and 40 genera), including representatives of five subfamilies of the Echinostomatidae, which currently exhibits the most complex taxonomic structure within the superfamily. This first comprehensive phylogeny for the Echinostomatoidea challenged the current systematic framework based on comparative morphology. A morphology-based evaluation of this new molecular framework resulted in a number of systematic and nomenclatural changes consistent with the phylogenetic estimates of the generic and suprageneric boundaries and a new phylogeny-based classification of the Echinostomatoidea. In the current systematic treatment: (i) the rank of two family level lineages, the former Himasthlinae and Echinochasminae, is elevated to full family status; (ii) Caballerotrema is distinguished at the family level; (iii) the content and diagnosis of the Echinostomatidae (sensu stricto) (s. str.) are revised to reflect its phylogeny, resulting in the abolition of the Nephrostominae and Chaunocephalinae as synonyms of the Echinostomatidae (s. str.); (iv) Artyfechinostomum, Cathaemasia, Rhopalias and Ribeiroia are re-allocated within the Echinostomatidae (s. str.), resulting in the abolition of the Cathaemasiidae, Rhopaliidae