WorldWideScience

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. Systematic notes on Asian birds. 33. The type of Cyornis unicolor harterti Robinson & Kinnear, 1928, and associated nomenclatural issues

    NARCIS (Netherlands)

    Dickinson, E.C.; Dekker, R.W.R.J.; Walters, M.

    2002-01-01

    The complex history of the nomenclature of the Malayan and Greater Sundan population of Cyornis unicolor is discussed and corrections to type localities relating to two names are provided. The whereabouts of critical type material is revealed and a lectotype is designated. Information given by

  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. 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.

  5. 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...... chains is named laminin beta-knob (Lbeta) domain. The chain origin of a domain is specified by the chain nomenclature, such as alpha1L4a. The abbreviation LM is suggested for laminin. Otherwise, the nomenclature remains unaltered....

  6. Nomenclatural adjustments in African plants 2

    Directory of Open Access Journals (Sweden)

    John Manning

    2016-12-01

    Full Text Available Background: Ongoing systematic studies in 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 examined. Results: Nomenclatural corrections are published in Mairia Nees (Asteraceae and Psilosiphon Welw. ex Goldblatt & J.C.Manning, nom illeg. (Iridaceae. Conclusions: Cineraria purpurata L. (1771 (Asteraceae is recognised as the earliest name for Mairia hirsuta DC. (1836 and the new combination M. purpurata (L. J.C.Manning is provided for the species. Psilosiphon Welw. ex Goldblatt & J.C.Manning (2015 (Iridaceae is a later homonym for Psilosiphon Entwisle (1989. The replacement name Afrosolen Goldblatt & J.C.Manning is proposed and the necessary new combinations for the 16 taxa currently recognised in the genus are provided.

  7. Genetic diversity of Toxoplasma gondii isolates from ruminants: A systematic review.

    Science.gov (United States)

    Sharif, Mehdi; Amouei, Afsaneh; Sarvi, Shahabeddin; Mizani, Azadeh; Aarabi, Mohsen; Hosseini, Seyed-Abdollah; Daryani, Ahmad

    2017-10-03

    Toxoplasma gondii is a protozoan capable of infecting all warm-blooded animals. This parasite has been classified into three major lineages. Our aim was to assess and compare the identified Types and genotypes in ruminants. From November 2014 to April 2015, four English language databases and four Persian databases that reported data on the T. gondii genotyping in ruminants were searched. Overall, typing results of the 250/307 T. gondii isolates in all animals showed that Type II was a predominant Type (81.4%). In addition, genotyping data from the 82/215 T. gondii isolates or strains indicated that atypical genotypes were predominant (38.13%). This systematic review has demonstrated a large degree of genetic diversity in some countries. However, in the new nomenclature of genotyping, there are atypical or exotic genotypes, such as Chinese 1, Types Br (I, II, III and IV), and Type 12. Further genotyping studies are required to corroborate the current results. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. 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

  9. Genetic association studies in lumbar disc degeneration: a systematic review.

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    Pasi J Eskola

    Full Text Available Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI in humans.A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines.Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat, COL11A1 (rs1676486, GDF5 (rs143383, SKT (rs16924573, THBS2 (rs9406328 and MMP9 (rs17576.Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.

  10. On the new anatomical nomenclature.

    Science.gov (United States)

    Marecková, E; Simon, F; Cervený, L

    2001-05-01

    The present paper is concerned with the linguistic aspect of the new anatomical nomenclature (Terminologia Anatomica 1998). Orthographic, morphological, syntactic, lexical, and terminological comments are presented. In the authors' opinion, shortcomings might have been effectively avoided by cooperation with linguists.

  11. The genetics of cholesteatoma. A systematic review using narrative synthesis.

    Science.gov (United States)

    Jennings, B A; Prinsley, P; Philpott, C; Willis, G; Bhutta, M F

    2018-02-01

    A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale, up to a million people are affected by this each year. We have conducted a systematic literature review to identify reports about the heritability of cholesteatoma or any constitutional genetic factors that may be associated with its aetiology. A systematic search of MEDLINE (EBSCO) and two databases of curated genetic research (OMIM and Phenopedia) was conducted. The participants and populations of interest for this review were people treated for cholesteatoma and their family members. The studies of interest reported evidence of heritability for the trait, or any association with congenital syndromes and particular genetic variants. The searches identified 449 unique studies, of which 35 were included in the final narrative synthesis. A narrative synthesis was conducted, and data were tabulated to record characteristics, including study design, genetic data and author conclusions. Most of the studies identified in the literature search, and described here, are case reports and so represent the lowest level of evidence. In a few case reports, congenital and acquired cholesteatomas have been shown to segregate within families in the pattern typical of a monogenic or oligogenic disorder with incomplete penetrance. Evidence from syndromic cases could suggest that genes controlling ear morphology may be risk factors for cholesteatoma formation. This is the first systematic review about the genetics of cholesteatoma, and we have identified a small body of relevant literature that provides evidence of a heritable component for its aetiology. Cholesteatoma is a complex and heterogeneous clinical phenotype, and it is often associated with chronic otitis media and with some rare congenital syndromes known to affect ear morphology and related pathologies. © 2017

  12. 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

  13. Bemisia tabaci nomenclature: lessons learned.

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    Boykin, Laura M

    2014-10-01

    The nomenclature used within the whitefly research community for different putative species within Bemisia tabaci (sensu Russell) remains highly variable and confused. This was evident by the many different naming schemes researchers were using in their presentations at the 1st International Whitefly Symposium in Kolymbari, Crete, Greece (20-24 May 2013). I wanted to try to document how we, as a community, have arrived at such a state of confused nomenclature. This also included an investigation of the nomenclature used in the literature (from 2002 to 2012) by means of two online search tools (Web of Science and Scirus). Nomenclatural data were collected at the 1st International Whitefly Symposium, based on oral presentations and posters. There were 17 different names used for the MED species and 12 different names used for the MEAM1 species of the B. tabaci species complex. Investigation of the literature revealed limited uptake of the intermediate names. The intermediate names for the various species in the B. tabaci species complex - MED, MEAM1, New World, etc. - are not being used by the wider whitefly community. To move forwarrd as a community, we must work towards a formal revision of the B. tabaci complex. © 2013 Society of Chemical Industry.

  14. Auditory Hallucinations Nomenclature and Classification

    NARCIS (Netherlands)

    Blom, Jan Dirk; Sommer, Iris E. C.

    Introduction: The literature on the possible neurobiologic correlates of auditory hallucinations is expanding rapidly. For an adequate understanding and linking of this emerging knowledge, a clear and uniform nomenclature is a prerequisite. The primary purpose of the present article is to provide an

  15. A systematic review of genetic syndromes with obesity.

    Science.gov (United States)

    Kaur, Y; de Souza, R J; Gibson, W T; Meyre, D

    2017-06-01

    Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity. © 2017 World Obesity Federation.

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

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    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.

  17. 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

  18. Gazetteer of planetary nomenclature 1994

    Science.gov (United States)

    Batson, Raymond M.; Russell, Joel F.

    1995-01-01

    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 easily located, described, and discussed. This volume contains detailed information about all names of topographic and albedo features on planets and satellites (and some planetary ring and ring-gap systems) that the International Astronomical Union has named and approved from its founding in 1919 through its triennial meeting in 1994.This edition of the Gazetteer of Planetary Nomenclature supersedes an earlier informal volume distributed by the U.S. Geological Survey in 1986 as Open-File Report 84-692 (Masursky and others, 1986). Named features are depicted on maps of the Moon published first by the U.S. Defense Mapping Agency or the Aeronautical Chart and Information Center and more recently by the U.S. Geological Survey; on maps of Mercury, Venus, Mars, and the satellites of Jupiter, Saturn, and Uranus published by the U.S. Geological Survey; and on maps of the Moon, Venus, and Mars produced by the U.S.S.R.Although we have attempted to check the accuracy of all data in this volume, we realize that some errors will remain in a work of this size. Readers noting errors or omissions are urged to communicate them to the U.S. Geological Survey, Branch of Astrogeology, Rm. 409, 2255 N. Gemini Drive, Flagstaff, AZ 86001.

  19. Nomenclatural adjustments in African plants 1

    Directory of Open Access Journals (Sweden)

    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

  20. 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.

  1. 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

  2. Genetic predisposition to acute kidney injury--a systematic review.

    Science.gov (United States)

    Vilander, Laura M; Kaunisto, Mari A; Pettilä, Ville

    2015-12-02

    The risk of an individual to develop an acute kidney injury (AKI), or its severity, cannot be reliably predicted by common clinical risk factors. Whether genetic risk factors have an explanatory role poses an interesting question, however. Thus, we conducted a systematic literature review regarding genetic predisposition to AKI or outcome of AKI patients. We searched Ovid SP (MEDLINE) and EMBASE databases and found 4027 references to AKI. Based on titles and abstracts, we approved 37 articles for further analysis. Nine were published only as abstracts, leaving 28 original articles in the final analysis. We extracted the first author, year of publication, study design, clinical setting, number of studied patients, patients with AKI, ethnicity of patients, studied polymorphisms, endpoints, AKI definition, phenotype, significant findings, and data for quality scoring from each article. We summarized the findings and scored the quality of articles. The articles were quite heterogeneous and of moderate quality (mean 6.4 of 10). Despite different gene polymorphisms with suggested associations with development or severity or outcome of AKI, definitive conclusions would require replication of associations in independent cohort studies and, preferably a hypothesis-free study design.

  3. 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.

  4. An update to HLA nomenclature, 2010.

    Science.gov (United States)

    Marsh, S G E; Albert, E D; Bodmer, W F; Bontrop, R E; Dupont, B; Erlich, H A; Fernández-Viña, M; Geraghty, D E; Holdsworth, R; Hurley, C K; Lau, M; Lee, K W; Mach, B; Maiers, M; Mayr, W R; Müller, C R; Parham, P; Petersdorf, E W; Sasazuki, T; Strominger, J L; Svejgaard, A; Terasaki, P I; Tiercy, J M; Trowsdale, J

    2010-05-01

    The WHO Nomenclature Committee for Factors of the HLA System met during the 15th International Histocompatibility and Immunogenetics Workshop in Buzios, Brazil in September 2008. This update is an extract of the main report that documents the additions and revisions to the nomenclature of human leukocyte antigen (HLA) specificities following the principles established in previous reports.

  5. 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

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

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    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. A standardized nomenclature for craniofacial and facial anthropometry.

    Science.gov (United States)

    Caple, Jodi; Stephan, Carl N

    2016-05-01

    Standardized terms and methods have long been recognized as crucial to reduce measurement error and increase reliability in anthropometry. The successful prior use of craniometric landmarks makes extrapolation of these landmarks to the soft tissue context, as analogs, intuitive for forensic craniofacial analyses and facial photogrammetry. However, this extrapolation has not, so far, been systematic. Instead, varied nomenclature and definitions exist for facial landmarks, and photographic analyses are complicated by the generalization of 3D craniometric landmarks to the 2D face space where analogy is subsequently often lost, complicating anatomical assessments. For example, landmarks requiring palpation of the skull or the examination of the 3D surface typology are impossible to legitimately position; similar applies to median landmarks not visible in lateral photographs. To redress these issues without disposing of the craniometric framework that underpins many facial landmarks, we provide an updated and transparent nomenclature for facial description. This nomenclature maintains the original craniometric intent (and base abbreviations) but provides clear distinction of ill-defined (quasi) landmarks in photographic contexts, as produced when anatomical points are subjectively inferred from shape-from-shading information alone.

  8. 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

  9. Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

    Directory of Open Access Journals (Sweden)

    Wang S Alex

    2010-01-01

    Full Text Available Abstract Background The genetic contributions to human common disorders and mouse genetic models of disease are complex and often overlapping. In common human diseases, unlike classical Mendelian disorders, genetic factors generally have small effect sizes, are multifactorial, and are highly pleiotropic. Likewise, mouse genetic models of disease often have pleiotropic and overlapping phenotypes. Moreover, phenotypic descriptions in the literature in both human and mouse are often poorly characterized and difficult to compare directly. Methods In this report, human genetic association results from the literature are summarized with regard to replication, disease phenotype, and gene specific results; and organized in the context of a systematic disease ontology. Similarly summarized mouse genetic disease models are organized within the Mammalian Phenotype ontology. Human and mouse disease and phenotype based gene sets are identified. These disease gene sets are then compared individually and in large groups through dendrogram analysis and hierarchical clustering analysis. Results Human disease and mouse phenotype gene sets are shown to group into disease and phenotypically relevant groups at both a coarse and fine level based on gene sharing. Conclusion This analysis provides a systematic and global perspective on the genetics of common human disease as compared to itself and in the context of mouse genetic models of disease.

  10. Nomenclatural changes in heterocytous Cyanoprokaryotes (Cyanobacteria, Cyanophytes)

    Czech Academy of Sciences Publication Activity Database

    Komárek, Jiří

    2012-01-01

    Roč. 12, č. 1 (2012), s. 141-148 ISSN 1802-5439 Institutional research plan: CEZ:AV0Z60050516 Keywords : taxonomy * nomenclature * new combinations Subject RIV: EF - Botanics Impact factor: 1.372, year: 2012

  11. Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review

    NARCIS (Netherlands)

    Oussalah, A.; Mayorga, C.; Blanca, M.; Barbaud, A.; Nakonechna, A.; Cernadas, J.; Gotua, M.; Brockow, K.; Caubet, J.-C.; Bircher, A.; Atanaskovic, M.; Demoly, P.; K Tanno, L.; Terreehorst, I.; Laguna, J. J.; Romano, A.; Guéant, J.-L.

    2016-01-01

    Drug hypersensitivity includes allergic (AR) and nonallergic reactions (NARs) influenced by genetic predisposition. We performed a systematic review of genetic predictors of IgE-mediated AR and NAR with MEDLINE and PubMed search engine between January 1966 and December 2014. Among 3110 citations,

  12. Plant ABC proteins--a unified nomenclature and updated inventory.

    Science.gov (United States)

    Verrier, Paul J; Bird, David; Burla, Bo; Dassa, Elie; Forestier, Cyrille; Geisler, Markus; Klein, Markus; Kolukisaoglu, Uner; Lee, Youngsook; Martinoia, Enrico; Murphy, Angus; Rea, Philip A; Samuels, Lacey; Schulz, Burkhard; Spalding, Edgar J; Yazaki, Kazufumi; Theodoulou, Frederica L

    2008-04-01

    The ABC superfamily comprises both membrane-bound transporters and soluble proteins involved in a broad range of processes, many of which are of considerable agricultural, biotechnological and medical potential. Completion of the Arabidopsis and rice genome sequences has revealed a particularly large and diverse complement of plant ABC proteins in comparison with other organisms. Forward and reverse genetics, together with heterologous expression, have uncovered many novel roles for plant ABC proteins, but this progress has been accompanied by a confusing proliferation of names for plant ABC genes and their products. A consolidated nomenclature will provide much-needed clarity and a framework for future research.

  13. Virus nomenclature below the species level: a standardized nomenclature for natural variants of viruses assigned to the family Filoviridae

    Science.gov (United States)

    Kuhn, Jens H.; Bao, Yiming; Bavari, Sina; Becker, Stephan; Bradfute, Steven; Brister, J. Rodney; Bukreyev, Alexander A.; Chandran, Kartik; Davey, Robert A.; Dolnik, Olga; Dye, John M.; Enterlein, Sven; Hensley, Lisa; Honko, Anna N.; Jahrling, Peter B.; Johnson, Karl M.; Kobinger, Gary; Leroy, Eric M.; Lever, Mark S.; Mühlberger, Elke; Netesov, Sergey V.; Olinger, Gene G.; Palacios, Gustavo; Patterson, Jean L.; Paweska, Janusz T.; Pitt, Louise; Radoshitzky, Sheli R.; Saphire, Erica Ollmann; Smither, Sophie J.; Swanepoel, Robert; Towner, Jonathan S.; van der Groen, Guido; Volchkov, Viktor E.; Wahl-Jensen, Victoria; Warren, Travis; Weidmann, Manfred; Nichol, Stuart T.

    2012-01-01

    The task of international expert groups is to recommend the classification and naming of viruses. The ICTV Filoviridae Study Group and other experts have recently established an almost consistent classification and nomenclature for filoviruses. Here, further guidelines are suggested to include their natural genetic variants. First, this term is defined. Second, a template for full-length virus names (such as “Ebola virus H.sapiens-tc/COD/1995/Kikwit-9510621”) is proposed. These names contain information on the identity of the virus (e.g., Ebola virus), isolation host (e.g., members of the species Homo sapiens), sampling location (e.g., Democratic Republic of the Congo (COD)), sampling year, genetic variant (e.g., Kikwit), and isolate (e.g., 9510621). Suffixes are proposed for individual names that clarify whether a given genetic variant has been characterized based on passage zero material (-wt), has been passaged in tissue/cell culture (-tc), is known from consensus sequence fragments only (-frag), or does (most likely) not exist anymore (-hist). We suggest that these comprehensive names are to be used specifically in the methods section of publications. Suitable abbreviations, also proposed here, could then be used throughout the text, while the full names could be used again in phylograms, tables, or figures if the contained information aids the interpretation of presented data. The proposed system is very similar to the well-known influenzavirus nomenclature and the nomenclature recently proposed for rotaviruses. If applied consistently, it would considerably simplify retrieval of sequence data from electronic databases and be a first important step toward a viral genome annotation standard as sought by the National Center for Biotechnology Information (NCBI). Furthermore, adoption of this nomenclature would increase the general understanding of filovirus-related publications and presentations and improve figures such as phylograms, alignments, and diagrams

  14. 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.

  15. Genetic association studies of obesity in Africa: a systematic review.

    Science.gov (United States)

    Yako, Y Y; Echouffo-Tcheugui, J B; Balti, E V; Matsha, T E; Sobngwi, E; Erasmus, R T; Kengne, A P

    2015-03-01

    Obesity is increasing in Africa, but the underlying genetic background largely remains unknown. We assessed existing evidence on genetic determinants of obesity among populations within Africa. MEDLINE and EMBASE were searched and the bibliographies of retrieved articles were examined. Included studies had to report on the association of a genetic marker with obesity indices and the presence/occurrence of obesity/obesity trait. Data were extracted on study design and characteristics, genetic determinants and effect estimates of associations with obesity indices. According to this data, over 300 polymorphisms in 42 genes have been studied in various population groups within Africa mostly through the candidate gene approach. Polymorphisms in genes such as ACE, ADIPOQ, ADRB2, AGRP, AR, CAPN10, CD36, C7orf31, DRD4, FTO, MC3R, MC4R, SGIP1 and LEP were found to be associated with various measures of obesity. Of the 36 polymorphisms previously validated by genome-wide association studies (GWAS) elsewhere, only FTO and MC4R polymorphisms showed significant associations with obesity in black South Africans, Nigerians and Ghanaians. However, these data are insufficient to establish the true nature of genetic susceptibility to obesity in populations within Africa. There has been recent progress in describing the genetic architecture of obesity among populations within Africa. This effort needs to be sustained via GWAS studies. © 2015 World Obesity.

  16. The possible nomenclature of encapsulated products.

    Science.gov (United States)

    Wani, Touseef Ahmed; Masoodi, Farooq Ahmad; Wani, Idrees Ahmed

    2017-11-01

    The field of encapsulation is being explored widely and new information is not uncommon. However, the basic principles remain the same. Highlighting the importance of the variables in encapsulated products could help improve them for different applications. A separate nomenclature for encapsulated products would not only highlight important variables for producing better encapsulated products but might be helpful from their marketing point-of-view. Nomenclature of encapsulated products has potential in the production, properties, applications, economy, etc. of the final product. It could also help the general public understand more about what they are purchasing, and choose between options claiming the same or similar properties. The nomenclature proposed here is based on four variables (size, wall material, active ingredients and techniques for developing the encapsulated product) employed in the preparation of encapsulated products for different applications. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. 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.

  18. [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.

  19. Genetic Factors in Tendon Injury: A Systematic Review of the Literature.

    Science.gov (United States)

    Vaughn, Natalie H; Stepanyan, Hayk; Gallo, Robert A; Dhawan, Aman

    2017-08-01

    Tendon injury such as tendinopathy or rupture is common and has multiple etiologies, including both intrinsic and extrinsic factors. The genetic influence on susceptibility to tendon injury is not well understood. To analyze the published literature regarding genetic factors associated with tendon injury. Systematic review; Level of evidence, 3. A systematic review of published literature was performed in concordance with the Preferred Reporting Items of Systematic Reviews and Meta-analysis (PRISMA) guidelines to identify current evidence for genetic predisposition to tendon injury. PubMed, Ovid, and ScienceDirect databases were searched. Studies were included for review if they specifically addressed genetic factors and tendon injuries in humans. Reviews, animal studies, or studies evaluating the influence of posttranscription factors and modifications (eg, proteins) were excluded. Overall, 460 studies were available for initial review. After application of inclusion and exclusion criteria, 11 articles were ultimately included for qualitative synthesis. Upon screening of references of these 11 articles, an additional 15 studies were included in the final review, for a total of 26 studies. The genetic factors with the strongest evidence of association with tendon injury were those involving type V collagen A1, tenascin-C, matrix metalloproteinase-3, and estrogen-related receptor beta. The published literature is limited to relatively homogenous populations, with only level 3 and level 4 data. Additional research is needed to make further conclusions about the genetic factors involved in tendon injury.

  20. Genetic discrimination and life insurance: a systematic review of the evidence.

    Science.gov (United States)

    Joly, Yann; Ngueng Feze, Ida; Simard, Jacques

    2013-01-31

    Since the late 1980s, genetic discrimination has remained one of the major concerns associated with genetic research and clinical genetics. Europe has adopted a plethora of laws and policies, both at the regional and national levels, to prevent insurers from having access to genetic information for underwriting. Legislators from the United States and the United Kingdom have also felt compelled to adopt protective measures specifically addressing genetics and insurance. But does the available evidence really confirm the popular apprehension about genetic discrimination and the subsequent genetic exceptionalism? This paper presents the results of a systematic, critical review of over 20 years of genetic discrimination studies in the context of life insurance. The available data clearly document the existence of individual cases of genetic discrimination. The significance of this initial finding is, however, greatly diminished by four observations. First, the methodology used in most of the studies is not sufficiently robust to clearly establish either the prevalence or the impact of discriminatory practices. Second, the current body of evidence was mostly developed around a small number of 'classic' genetic conditions. Third, the heterogeneity and small scope of most of the studies prevents formal statistical analysis of the aggregate results. Fourth, the small number of reported genetic discrimination cases in some studies could indicate that these incidents took place due to occasional errors, rather than the voluntary or planned choice, of the insurers. Important methodological limitations and inconsistencies among the studies considered make it extremely difficult, at the moment, to justify policy action taken on the basis of evidence alone. Nonetheless, other empirical and theoretical factors have emerged (for example, the prevalence and impact of the fear of genetic discrimination among patients and research participants, the (un)importance of genetic

  1. The Amsterdam Declaration on Fungal Nomenclature

    NARCIS (Netherlands)

    Hawksworth, D.L.; Crous, P.W.; Redhead, S.A.; Reynolds, D.R.; Samson, R.A.; Seifert, K.A.; Taylor, J.E.; Wingfield, M.J.; Abaci, Ö.; Aime, C.; Asan, A.; Bai, F.H.; de Beer, Z.W.; Begerow, D.; Berikten, D.; Boekhout, T.; Buchanan, P.K.; Burgess, T.I.; Buzina, W.; Cai, L.; Cannon, P.F.; Crane, J.L.; Damm, U.; Daniel, H.M.; van Diepeningen, A.D.; Druzhinina, I.; Dyer, P.S.; Eberhardt, U.; Fell, J.W.; Frisvad, J.C.; Geiser, D.M.; Geml, J.; Glienke, C.; Gräfenhan, T.; Groenewald, J.Z.; Groenewald, M.; de Gruyter, J.; Guého-Kellermann, E.; Guo, L-D.; Hibbett, D.S.; Hong, S.B.; de Hoog, G.S.; Houbraken, J.; Huhndorf, S.M.; Hyde, K.D.; Ismail, A.; Johnston, P.R.; Kadaifciler, D.G.; Kirk, P.M.; Kõljalg, U.; Kurtzman, C.P.; Lagneau, P-E.; Lévesque, C.A.; Liu, X.S.; Lombard, L.; Meyer, W.; Miller, A.N.; Minter, D.W.; Najafzadeh, M.J.; Norvell, L.L.; Ozerskaya, S.M.; Öziç, R.; Pennycook, S.R.; Peterson, S.W.; Pettersson, O.V.; Quaedvlieg, W.; Robert, V.; Ruibal, C.; Schnürer, J.; Schroers, H.J.; Shivas, R.G.; Slippers, B.; Spierenburg, H.; Takashima, M.; Taşkın, E.; Thines, M.; Thrane, U.; Uztan, A.H.; van Raak, M.; Varga, J.; Vasco, A.; Verkley, G.J.M.; Videira, S.I.R.; de Vries, R.P.; Weir, B.S.; Yilmaz, N.; Yurkov, A.; Zhang, N.

    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

  2. The Amstersam declaration on fungal nomenclature

    DEFF Research Database (Denmark)

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

    2011-01-01

    to advise on the problem. The Declaration recognizes the need for an orderly transitition 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...

  3. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs

    NARCIS (Netherlands)

    Mastenbroek, S.; Twisk, M.; van der Veen, F.; Repping, S.

    2011-01-01

    Preimplantation genetic screening (PGS) has increasingly been used in the past decade. Here we present a systematic review and meta-analysis of RCTs on the effect of PGS on the probability of live birth after IVF. PubMed and trial registers were searched for RCTs on PGS. Trials were assessed

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. Acute pancreatitis: international classification and nomenclature.

    Science.gov (United States)

    Bollen, T L

    2016-02-01

    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. Copyright © 2015 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  9. Techniques of laparoscopic cholecystectomy: Nomenclature and selection

    Science.gov (United States)

    Haribhakti, Sanjiv P.; Mistry, Jitendra H.

    2015-01-01

    There are more than 50 different techniques of laparoscopic cholecystectomy (LC) available in literature mainly due to modifications by surgeons in aim to improve postoperative outcome and cosmesis. These modifications include reduction in port size and/or number than what is used in standard LC. There is no uniform nomenclature to describe these different techniques so that it is not possible to compare the outcomes of different techniques. We brief the advantages and disadvantages of each of these techniques and suggest the situation where particular technique would be useful. We also propose a nomenclature which is easy to remember and apply, so that any future comparison will be possible between the techniques. PMID:25883450

  10. 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

  11. The psychological impact of predictive genetic testing for Huntington's disease: a systematic review of the literature.

    Science.gov (United States)

    Crozier, S; Robertson, N; Dale, M

    2015-02-01

    Huntington's disease (HD) is a neurodegenerative genetic condition for which a predictive genetic test by mutation analysis has been available since 1993. However, whilst revealing the future presence of the disease, testing may have an adverse psychological impact given that the disease is progressive, incurable and ultimately fatal. This review seeks to systematically explore the psychological impact of genetic testing for individuals undergoing pre-symptomatic mutation analysis. Three databases (Medline, PsycInfo and Scopus) were interrogated for studies utilising standardised measures to assess psychological impact following predictive genetic testing for HD. From 100 papers initially identified, eight articles were eligible for inclusion. Psychological impact of predictive genetic testing was not found to be associated with test result. No detrimental effect of predictive genetic testing on non-carriers was found, although the process was not found to be psychologically neutral. Fluctuation in levels of distress was found over time for carriers and non-carriers alike. Methodological weaknesses of published literature were identified, notably the needs of individuals not requesting genetic testing, as well as inadequate support for individuals registering elevated distress and declining post-test follow-up. Further assessment of these vulnerable individuals is warranted to establish the extent and type of future psychological support.

  12. 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.

  13. Genetic discrimination and life insurance: a systematic review of the evidence

    Science.gov (United States)

    2013-01-01

    Background Since the late 1980s, genetic discrimination has remained one of the major concerns associated with genetic research and clinical genetics. Europe has adopted a plethora of laws and policies, both at the regional and national levels, to prevent insurers from having access to genetic information for underwriting. Legislators from the United States and the United Kingdom have also felt compelled to adopt protective measures specifically addressing genetics and insurance. But does the available evidence really confirm the popular apprehension about genetic discrimination and the subsequent genetic exceptionalism? Methods This paper presents the results of a systematic, critical review of over 20 years of genetic discrimination studies in the context of life insurance. Results The available data clearly document the existence of individual cases of genetic discrimination. The significance of this initial finding is, however, greatly diminished by four observations. First, the methodology used in most of the studies is not sufficiently robust to clearly establish either the prevalence or the impact of discriminatory practices. Second, the current body of evidence was mostly developed around a small number of 'classic' genetic conditions. Third, the heterogeneity and small scope of most of the studies prevents formal statistical analysis of the aggregate results. Fourth, the small number of reported genetic discrimination cases in some studies could indicate that these incidents took place due to occasional errors, rather than the voluntary or planned choice, of the insurers. Conclusion Important methodological limitations and inconsistencies among the studies considered make it extremely difficult, at the moment, to justify policy action taken on the basis of evidence alone. Nonetheless, other empirical and theoretical factors have emerged (for example, the prevalence and impact of the fear of genetic discrimination among patients and research participants

  14. What Happened to the Streptococci: Overview of Taxonomic and Nomenclature Changes

    OpenAIRE

    Facklam, Richard

    2002-01-01

    Since the division of the Streptococcus genus into enterococci, lactococci, and streptococci in 1984, many changes in the nomenclature and taxonomy of the Streptococcus genus have taken place. The application of genetic comparisons has improved the proper classification of the different species. The Lancefield system of serogrouping the streptococci by the expression of beta-hemolysis on blood agar plates is still very useful for the identification of streptococci for patient management. The ...

  15. 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.

  16. Nomenclature and the National Wetland Plant List

    Science.gov (United States)

    2009-05-01

    eg io n s R es ea rc h an d E n gi n ee ri n g La b or at or y Approved for public release; distribution is unlimited...may appear on the previous two NWPLs, as well as names from anti- quated floras , florulas, monographs, taxonomic revisions, or other botani- cal...few basic concepts of nomenclature and taxonomy, i.e., how names are presented in a standard botanical format, and how or why one might ques - tion the

  17. Systematics and genetic structure of Ponderosae taxa (Pinaceae) inhabiting the mountain islands of the Southwest.

    Science.gov (United States)

    Rehfeldt, G E

    1999-05-01

    The systematics and genetic structure of taxa representing the Ponderosae subsection of genus Pinus were assessed for disjunct, isolated, and peripheral populations occupying the mountain islands of the Southwest. Wind-pollinated progenies of 290 trees were compared in common gardens according to ten variables reflecting allometric, needle, and phenologic characteristics of 2-yr-old trees. The tests also included populations of similar taxa from the Rocky Mountains to the north and the Sierra Madre to the south. Principal component and canonical discriminant analyses demonstrated that the taxa segregated into three distinct groups, one of which contained two subgroups. These groupings collectively accounted for all of the many and confusing taxonomic descriptions that exist for the Ponderosae of the southwest United States and northern Mexico. The results suggested that intertaxa hybrids or hybrid derivatives may have been segregating within the progenies of only three of the parental trees. Hybridization, therefore, appears to be infrequent and inconsequential to the interrelationships among taxa and to contemporary genetic structures of taxa. Univariate analyses showed that the three distinct groups displayed different genetic structures despite similarities in their geographic distributions. While genetic variation within populations of all groups was abundant, a group labeled "quinquefoliata" displayed little variation among populations; one labeled "engelmannii" had abundant interpopulation variation that was largely randomly distributed across the landscape; and in a group containing the subgroups called "scopulorum" and "taxon X," abundant interpopulation variability was arranged systematically along moderately steep clines. These disparate genetic structures showed no apparent effects of the isolated, disjunct, and peripheral conditions under which populations of these taxa exist.

  18. Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database.

    Science.gov (United States)

    Sim, Sarah C; Ingelman-Sundberg, Magnus

    2013-01-01

    Interindividual variability in xenobiotic metabolism and drug response is extensive and genetic factors play an important role in this variation. A majority of clinically used drugs are substrates for the cytochrome P450 (CYP) enzyme system and interindividual variability in expression and function of these enzymes is a major factor for explaining individual susceptibility for adverse drug reactions and drug response. Because of the existence of many polymorphic CYP genes, for many of which the number of allelic variants is continually increasing, a universal and official nomenclature system is important. Since 1999, all functionally relevant polymorphic CYP alleles are named and published on the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Web site (http://www.cypalleles.ki.se). Currently, the database covers nomenclature of more than 660 alleles in a total of 30 genes that includes 29 CYPs as well as the cytochrome P450 oxidoreductase (POR) gene. On the CYP-allele Web site, each gene has its own Webpage, which lists the alleles with their nucleotide changes, their functional consequences, and links to publications identifying or characterizing the alleles. CYP2D6, CYP2C9, CYP2C19, and CYP3A4 are the most important CYPs in terms of drug metabolism, which is also reflected in their corresponding highest number of Webpage hits at the CYP-allele Web site.The main advantage of the CYP-allele database is that it offers a rapid online publication of CYP-alleles and their effects and provides an overview of peer-reviewed data to the scientific community. Here, we provide an update of the CYP-allele database and the associated nomenclature.

  19. 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.

  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. 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.

  2. 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

  3. 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…

  4. Study on international standard multilingual nomenclature of Chinese medicine.

    Science.gov (United States)

    Wang, Kui; Liu, Lu; Li, Wei; Shi, Da-zhuo; Zeng, Wen-ying; Zhu, Mian-sheng; Angles, Michel; Attali, Jean-Raymond; Choy, Pedro; Choy, Joao; Wu, Chi-haur; Zhai, Fu-han; Ramon, Maria Calduch; Chung, Ching

    2010-04-01

    The International Standard Chinese-English Basic Nomenclature of Chinese medicine (ISN) was released in 2007, a nomenclature list consisting of 6 500 Chinese medical terms. ISN was the culmination of several years of collaborative diligent work of over 200 specialists who represent Chinese medicine in 68 countries. The overall goal for devising standard English nomenclature for Chinese medicine is to develop a practical international standard nomenclature for Chinese medical basic terms, to make it compatible with contemporary research and educational standards in the globalized health care service. In this article, provided is an overview of principles and methods for the multilingual translations, the processes behind the particular content of the Chinese-English ISN and an introduction to the ongoing new projects, i.e. the multilingual versions of ISN (International Standards of Chinese-Spanish, Chinese-French and Chinese-Portuguese Basic Nomenclature of Chinese Medicine).

  5. Are there depression and anxiety genetic markers and mutations? A systematic review.

    Science.gov (United States)

    Lacerda-Pinheiro, Sally França; Pinheiro Junior, Roberto Flávio Fontenelle; Pereira de Lima, Marcos Antonio; Lima da Silva, Claúdio Gleidiston; Vieira dos Santos, Maria do Socorro; Teixeira Júnior, Antonio Gilvan; Lima de Oliveira, Pedro Neto; Ribeiro, Karla Denise Barros; Rolim-Neto, Modesto Leite; Bianco, Bianca Alves Vieira

    2014-10-01

    Genetic factors may encourage or even cause the occurrence of mood disorders such as anxiety and/or depression. However, despite the significant amount of work and sophisticated technology is not fully elucidated which genes or regions of nuclear or mitochondrial DNA, or which types of genetic changes, alone or in combination, can represent reliable genetic markers of anxiety and/or depression. To identify whether there are genetic changes that can cause depression or anxiety and if there are genetic markers that can be used to detect these changes. A systematic review of 01.01.2004 to 03.28.2014 was held by VHL (Virtual Health Library). The search was performed with the descriptors ׳׳anxiety׳׳, ׳׳depression׳׳, "mutation" and "genetic markers׳׳. The selected articles were indexed in MEDLINE. The information pertinent to the study was selected, categorized and analyzed. Of the 374 articles found, 29 met the eligibility criteria. FMR1 gene polymorphisms, dopaminergic (DAT, DRD, COMT), serotonin (5-HTTLPR, HTR1A, HTR2A), interleukins, MCR1, HCN (potassium channel), neurorregulinas, GABAergic (GABA, GAD, DBI) DBI, GABA (Gabra) receptors and GAD genes (GAD1, GAD2) appear to contribute to generate condition of depression or anxiety like. Mutations in mitochondrial DNA in 124pb allele of D2S2944 in ofil 1 and 2 loci of chromosomes 4 and 7, respectively, and the chromosomes 8p, 17p and 15q appear to be associated with the origin of depression or anxiety. Some studies show only associations with one of the disorders, mainly anxiety. Few have shown association with both simultaneously. Other studies showed specific association of gender, or even specific ethnic groups. It was noticed, controversies over certain markers. Interesting results were observed in combination of changes, especially in cases of SNPs, indicating that perhaps this is the most appropriate way to find reliable markers. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements.

    Science.gov (United States)

    Rafiq, Muhammad; Ianuale, Carolina; Ricciardi, Walter; Boccia, Stefania

    2015-10-01

    Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT). The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations. We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe. Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of DTC GT. Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.

  7. 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 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.

  8. 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

  9. 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...

  10. Renal Osteodystrophy-Time for Common Nomenclature.

    Science.gov (United States)

    Ott, Susan M

    2017-06-01

    The term renal osteodystrophy has been used to describe a wide variety of bone problems facing patients with chronic kidney disease (CKD). Here, we review the history of the use of this term. Bone disease resulting from CKD was first noticed in 1890. The term "renal osteodystrophy" was used to define the bone disease in 1942. Since then, important discoveries have increased our knowledge of the complexities of bone physiology in these patients. At the same time, secular changes in the disease have occurred. The terms used to describe the bone histological findings have changed as well, reflecting new understanding of the physiological processes. However, since different investigators used the terms in different ways, the need to standardize the nomenclature has become increasingly important. Ongoing international collaboration about nosography will allow more optimal communication among scientists and clinicians as we continue to make new discoveries.

  11. Jurassic-Early Cretaceous Gondwanan homoxylous woods: a nomenclatural revision of the genera with taxonomic notes.

    Science.gov (United States)

    Bamford, M K.; Philippe, M

    2001-04-01

    The homoxylous fossil woods occurring in the Gondwanan continents of South America, Australia, Africa, India and Antarctica during the Jurassic and Early Cretaceous period are considered here. Original descriptions of the genera and wherever possible, the type material, have been consulted. Applying the rules of the International Code of Botanical Nomenclature, the generic names of the homoxylous woods have been revised from a nomenclatural point of view. According to this review, out of 31 generic names used for woods from the given time interval and area, 6 are illegitimate later nomenclatural synonyms, 1 is a later homonym, and 5 can be considered as taxonomical synonyms. Moreover, 9 genera have been used erroneously. We propose one new generic name (Protaxodioxylon n. gen.) and elsewhere we will propose for conservation, with a conserved type one of the illegitimate names and one of the taxonomic synonyms. As a result, we consider that there are only eighteen generic names correctly quoted for the Jurassic-Early Cretaceous of Gondwana, and we provide a taxonomic key for the corresponding genera. This revision is the first step in systematically comparing northern and southern hemisphere woods.

  12. 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

  13. 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.

  14. How is genetic testing evaluated? A systematic review of the literature.

    Science.gov (United States)

    Pitini, Erica; De Vito, Corrado; Marzuillo, Carolina; D'Andrea, Elvira; Rosso, Annalisa; Federici, Antonio; Di Maria, Emilio; Villari, Paolo

    2018-02-08

    Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2). Others refer to the Wilson and Jungner screening criteria (n = 3) or to a mixture of different criteria (n = 5). Due to the widespread use of the ACCE Framework, the most frequently used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. Less attention is given to the context of implementation. An economic dimension is always considered, but not in great detail. Consideration of delivery models, organizational aspects, and consumer viewpoint is often lacking. A deeper analysis of such context-related evaluation dimensions may strengthen a comprehensive evaluation of genetic tests and support the decision-making process.

  15. 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

  16. 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.

  17. Systematic evaluation of genes and genetic variants associated with type 1 diabetes susceptibility

    DEFF Research Database (Denmark)

    Ram, Ramesh; Mehta, Munish; Nguyen, Tri Quang

    2016-01-01

    levels of genes in four different cell types: EBV-transformed B cell lines (resting and 6 h PMA stimulated) and purified CD4+ and CD8+ T cells. We mapped cis-acting expression quantitative trait loci and found 24 non-HLA loci that affected the expression of 31 transcripts significantly in at least one......Genome-wide association studies have found >60 loci that confer genetic susceptibility to type 1 diabetes (T1D). Many of these are defined only by anonymous single nucleotide polymorphisms: the underlying causative genes, as well as the molecular bases by which they mediate susceptibility......, are not known. Identification of how these variants affect the complex mechanisms contributing to the loss of tolerance is a challenge. In this study, we performed systematic analyses to characterize these variants. First, all known genes in strong linkage disequilibrium (r2 > 0.8) with the reported single...

  18. 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...

  19. 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.

  20. [Problems of definition and of nomenclature in rheumatology (author's transl)].

    Science.gov (United States)

    Mathies, H

    1975-08-08

    Rheumatism is the collective denomination for systemic diseases of the locomotor system with possible involvement of internal organs, or on the basis of primary diseases, in particular of infectious, metabolic, endocrinological, hematologic or neurological origin. Problems of nomenclature related to this definition are discussed and examined critically from the linguistic point of view. With the aid of examples the nomenclature of significant rheumatic diseases is discussed as regards the linguistic and characterizing suitability of current or recommended terminology.

  1. 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.

  2. 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

  3. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.

    Science.gov (United States)

    Leung, Doris G

    2017-07-01

    A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review. Data on preferentially involved or spared muscles were extracted for analysis. A total of 2172 titles and abstracts were screened, and 70 publications met our criteria for inclusion in the systematic review. There were 23 distinct genetic disorders represented in this analysis. In most studies, preferential involvement and sparing of specific muscles were reported. We conclude that magnetic resonance imaging studies can be used to identify distinct patterns of muscle involvement in the hereditary myopathies. However, larger studies and standardized methods of reporting are needed to develop imaging as a diagnostic tool in these diseases.

  4. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

    Science.gov (United States)

    Bergmann, Anke K; Campagna, Dean R; McLoughlin, Erin M; Agarwal, Suneet; Fleming, Mark D; Bottomley, Sylvia S; Neufeld, Ellis J

    2010-02-01

    Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits in mitochondria of erythroid precursors. Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2). A novel autosomal recessive CSA, caused by mutations in the erythroid specific mitochondrial transporter SLC25A38, was recently defined. Other known etiologies include mutations in genes encoding the thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase 1 (PUS1), a mitochondrial ATP-binding cassette transporter (ABCB7), glutaredoxin 5 (GLRX5), as well as mitochondrial DNA deletions. Despite these known diverse causes, in a substantial portion of CSA cases a presumed genetic defect remains unknown. In the context of the recent discovery of SLC25A38 as a major novel cause, we systematically analyzed a large cohort of previously unreported CSA patients. Sixty CSA probands (28 females, 32 males) were examined for ALAS2, SLC25A38, PUS1, GLRX5, and ABCB7 mutations. SLC19A2 and mitochondrial DNA were only analyzed if characteristic syndromic features were apparent. Twelve probands had biallelic mutations in SLC25A38. Seven ALAS2 mutations were detected in eight sporadic CSA cases, two being novel. We also identified a novel homozygous null PUS1 mutation and novel mitochondrial DNA deletions in two patients with Pearson syndrome. No mutations were encountered in GLRX5, ABCB7, or SLC19A2. The remaining undefined probands (43%) can be grouped according to gender, family, and clinical characteristics, suggesting novel X-linked and autosomal recessive forms of CSA. (c) 2009 Wiley-Liss, Inc.

  5. The use of genetic markers in the molecular epidemiology of histoplasmosis: a systematic review.

    Science.gov (United States)

    Damasceno, L S; Leitão, T M J S; Taylor, M L; Muniz, M M; Zancopé-Oliveira, R M

    2016-01-01

    Histoplasmosis is a systemic mycosis caused by Histoplasma capsulatum, a dimorphic fungal pathogen that can infect both humans and animals. This disease has worldwide distribution and affects mainly immunocompromised individuals. In the environment, H. capsulatum grows as mold but undergoes a morphologic transition to the yeast morphotype under special conditions. Molecular techniques are important tools to conduct epidemiologic investigations for fungal detection, identification of infection sources, and determination of different fungal genotypes associated to a particular disease symptom. In this study, we performed a systematic review in the PubMed database to improve the understanding about the molecular epidemiology of histoplasmosis. This search was restricted to English and Spanish articles. We included a combination of specific keywords: molecular typing [OR] genetic diversity [OR] polymorphism [AND] H. capsulatum; molecular epidemiology [AND] histoplasmosis; and molecular epidemiology [AND] Histoplasma. In addition, we used the specific terms: histoplasmosis [AND] outbreaks. Non-English or non-Spanish articles, dead links, and duplicate results were excluded from the review. The results reached show that the main methods used for molecular typing of H. capsulatum were: restriction fragment length polymorphism, random amplified polymorphic DNA, microsatellites polymorphism, sequencing of internal transcribed spacers region, and multilocus sequence typing. Different genetic profiles were identified among H. capsulatum isolates, which can be grouped according to their source, geographical origin, and clinical manifestations.

  6. 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.

  7. Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review.

    Science.gov (United States)

    Oussalah, A; Mayorga, C; Blanca, M; Barbaud, A; Nakonechna, A; Cernadas, J; Gotua, M; Brockow, K; Caubet, J-C; Bircher, A; Atanaskovic, M; Demoly, P; K Tanno, L; Terreehorst, I; Laguna, J J; Romano, A; Guéant, J-L

    2016-04-01

    Drug hypersensitivity includes allergic (AR) and nonallergic reactions (NARs) influenced by genetic predisposition. We performed a systematic review of genetic predictors of IgE-mediated AR and NAR with MEDLINE and PubMed search engine between January 1966 and December 2014. Among 3110 citations, the search selected 53 studies, 42 of which remained eligible. These eligible studies have evaluated genetic determinants of immediate reactions (IR) to beta-lactams (n = 19), NAR against aspirin (n = 12) and other nonsteroidal anti-inflammatory drugs (NSAIDs) (n = 8), and IR to biologics (n = 3). We reported two genomewide association studies and four case-control studies on candidate genes validated by replication. Genes involved in IR to beta-lactams belonged to HLA type 2 antigen processing, IgE production, atopy, and inflammation, including 4 genes validated by replications, HLA-DRA, ILR4, NOD2, and LGALS3. Genes involved in NAR to aspirin belonged to arachidonic acid pathway, membrane-spanning 4A gene family, histamine production pathway, and pro-inflammatory cytokines, while those involved in NAR to all NSAIDs belonged to arachidonic acid pathway and HLA antigen processing pathway. ALOX5 was a common predictor of studies on NAR to both aspirin and NSAIDs. Although these first conclusions could be drawn, this review highlights also the lack of reliable data and the need for replicating studies in contrasted populations, taking into account worldwide allele frequencies, gene-gene interactions, and contrasted situations of environmental exposure. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    Christina M Lill

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

  10. Is There a Genetic Predisposition to Anterior Cruciate Ligament Tear? A Systematic Review.

    Science.gov (United States)

    John, Rakesh; Dhillon, Mandeep Singh; Sharma, Siddhartha; Prabhakar, Sharad; Bhandari, Mohit

    2016-12-01

    Injuries to the anterior cruciate ligament (ACL) are among the most common knee ligament injuries and frequently warrant reconstruction. The etiopathogenesis of these injuries has focused mainly on mechanism of trauma, patient sex, and anatomic factors as predisposing causes. Several genetic factors that could predispose to an ACL tear have recently been reported. This systematic review summarizes the current evidence for a genetic predisposition to ACL tears. The principal research question was to identify genetic factors, based on the available literature, that could predispose an individual to an ACL tear. Systematic review. The PubMed, EMBASE, Cochrane, and HuGE databases were searched; the search was run from the period of inception until June 21, 2015. A secondary search was performed by screening the references of full-text articles obtained and by manually searching selected journals. Articles were screened with prespecified inclusion criteria. The quality of studies included in the review was assessed for risk of bias by 2 reviewers using the Newcastle-Ottawa Scale. A total of 994 records were identified by the search, out of which 17 studies (16 case-control studies and 1 cross-sectional study) were included in the final review. Two studies observed a familial predisposition to an ACL tear. Fourteen studies looked at specific gene polymorphisms in 20 genes, from which different polymorphisms in 10 genes were positively associated with an ACL tear. In addition to these polymorphisms, 8 haplotypes were associated with ACL tear. One study looked at gene expression analysis. Although specific gene polymorphisms and haplotypes have been identified, it is difficult to come to a conclusion on the basis of the existing literature. Several sources of bias have been identified in these studies, and the results cannot be extrapolated to the general population. More studies are needed in larger populations of different ethnicities. Gene-gene interactions and gene

  11. What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

    Science.gov (United States)

    Tack, Véronique; Deans, Zandra C; Wolstenholme, Nicola; Patton, Simon; Dequeker, Elisabeth M C

    2016-06-01

    The Human Genome Variation Society (HGVS) recommendations provide standardized nomenclature for reporting variants. This should be encouraged in molecular pathology-both for issuing diagnostic reports and for correct data recording in electronic databases. Many providers of external quality assessment (EQA) promote the correct use of HGVS nomenclature by scoring variant descriptions used in EQA reports. This study focuses on the type and impact of variant nomenclature errors. An assessment was made of EGFR gene variant nomenclature by four EQA providers (European Society of Pathology [ESP], European Molecular Genetics Quality Network [EMQN], United Kingdom National External Quality Assessment Service for Molecular Genetics, and the French national Gen&Tiss EQA scheme) for two EQA distributions. Laboratories testing for oncology biomarkers make different errors when describing EGFR gene variants. Significant differences were observed regarding inclusion of the correct reference sequence: EMQN participants made fewer errors compared to ESP EQA participants (P-value = 0.015). The analysis of ESP EQA participants showed significant improvement over 2 years (P-value = 0.016). Results demonstrate the need for improvement of variant reporting according to HGVS guidelines. Consequences of using incorrect mutation nomenclature are currently perceived as low by many laboratories, but the impact will rise with an increased reliance on databases to assist in result analysis. © 2016 WILEY PERIODICALS, INC.

  12. Tethering tracts in spina bifida occulta: revisiting an established nomenclature.

    Science.gov (United States)

    Rajpal, Sharad; Salamat, M Shahriar; Tubbs, R Shane; Kelly, David R; Oakes, W Jerry; Iskandar, Bermans J

    2007-09-01

    The goal of the present study goal was to systematically confirm the previously recognized nomenclature for tethering tracts that are part of the spectrum of occult spinal dysraphic lesions. The tethering tract in 20 patients with spina bifida occulta underwent histological examination with H & E staining and epithelial membrane antigen (EMA) immunolabeling, and additional selected specimens were stained with Masson trichrome. All tethering tracts contained fibrous connective tissue. Four tracts were lined with epithelial cells and either originated within a dermoid cyst, terminated at a skin dimple/sinus opening, or had both of these characteristics. No tethering tracts exhibited EMA positivity or meningeal elements. Although all tethering tracts originated in juxtaposition to the spinal cord, their termination sites were variable. Based on histological findings and presumed embryological origin, the authors broadly classified tethering tracts terminating within the dura mater, epidural space, or lamina as "short tethering tracts" (STTs). The STTs occurred mostly in conjunction with split cord malformations and had a purely fibrous composition. Tethering tracts terminating superficial to the overlying lamina were classified as "long tethering tracts" (LTTs), and the authors propose that these are embryologically distinct from STTs. The LTTs were of two varieties: epithelial and nonepithelial, the former being typically associated with a skin dimple or spinal cord (epi)dermoid cyst. In fact, analysis of the data suggested that not every tethering tract terminating in or on the skin should be classified as a dermal sinus tract without histological confirmation, and because no evidence of meningeal tissue-lined tracts was detected, the use of the term "meningocele manqué" may not be appropriate.

  13. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.

    Science.gov (United States)

    Richards, Caroline; Jones, Christopher; Groves, Laura; Moss, Jo; Oliver, Chris

    2015-10-01

    Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general population; however, no meta-analysis has provided prevalence data within and between syndromes. In this systematic review and meta-analysis, we aimed to synthesise data from a wide range of papers to provide accurate estimates about ASD phenomenology in genetic and metabolic syndromes. We identified syndromes reported as most likely to be associated with ASD. We searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, and PubMed Central for English-language papers published from database creation up to early 2014 with use of syndrome-specific keywords and a set of ASD keywords. We screened and extracted papers that had ASD prevalence data for ten or more people within a genetic syndrome. With use of a prespecified set of reliable criteria, we applied quality weighting to papers and estimated a quality-effects prevalence of ASD phenomenology for each syndrome. We then calculated relative risks to compare ASD between all syndromes and also calculated odds ratios to compare prevalence with the general population taking the current estimate of one in 68 people. We identified 168 papers reporting the prevalence of ASD phenomenology and found widely varying methods and quality of data. Quality-weighted effect prevalence estimates of ASD phenomenology were established for Rett's syndrome (female individuals only 61%), Cohen's syndrome (54%), Cornelia de Lange syndrome (43%), tuberous sclerosis complex (36%), Angelman's syndrome (34%), CHARGE syndrome (30%), fragile X syndrome (male individuals only 30%; mixed sex 22%), neurofibromatosis type 1 (18%), Down's syndrome (16%), Noonan's syndrome (15%), Williams' syndrome (12%), and 22q11.2 deletion syndrome (11%). Relative risks and the odds ratio compared with the general population were highest for Rett's syndrome and Cohen's syndrome. In all syndromes, odds ratios showed ASD phenomenology to

  14. Is There a Genetic Predisposition to Frozen Shoulder?: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Prodromidis, Apostolos D; Charalambous, Charalambos P

    2016-02-23

    Frozen shoulder is a common disorder that leads to substantial functional loss for patients by impairing activities of daily living. It also adversely affects patients and society by impairing the ability to work. Its pathogenesis is not fully understood. The aim of the present study was to perform a systematic review and meta-analysis to assess the evidence suggesting a genetic link to frozen shoulder. A literature search of MEDLINE, EMBASE, and CINAHL databases using relevant keywords revealed 5506 studies. After appropriate screening of titles, abstracts, and full studies, seven studies were analyzed. Three studies investigated rates of frozen shoulder among relatives. One study (n = 1828 twin pairs) showed an 11.6% prevalence in twin pairs and demonstrated a heritability of 42% for frozen shoulder after adjusting for age. A second study (n = 273) showed that 20% of patients with frozen shoulder had a positive family history involving a first-degree relative. The relative risk of frozen shoulder was 4:1 when all patients with frozen shoulder were compared with a control population. A third study (n = 87) showed that 29% of patients with frozen shoulder had a first-degree relative with frozen shoulder. Two studies evaluated racial predilection for frozen shoulder. One study (n = 50) reported a substantially higher number of white patients (76%) with frozen shoulder than black patients (24%). A second study (n = 87) showed that being born or having parents or grandparents born in the British Isles were risk factors for frozen shoulder. Four immunological studies investigated human leukocyte antigen (HLA)-B27 as a risk factor for frozen shoulder. Meta-analysis of two of these studies with clearly defined controls showed significantly higher rates of HLA-B27 positivity in patients with frozen shoulder as compared with controls (p genetic predisposition to frozen shoulder. However, as there is a lack of unbiased genetic approaches, there is an opportunity for genome

  15. Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence.

    Directory of Open Access Journals (Sweden)

    Gabriela A Martínez-Nava

    Full Text Available Cervical cancer (CC has one of the highest mortality rates among women worldwide. Several efforts have been made to identify the genetic susceptibility factors underlying CC development. However, only a few polymorphisms have shown consistency among studies.We conducted a systematic review of all recent case-control studies focused on the evaluation of single nucleotide polymorphisms (SNPs and CC risk, stringently following the "PRISMA" statement recommendations. The MEDLINE data base was used for the search. A total of 100 case-control studies were included in the meta-analysis. Polymorphisms that had more than two reports were meta-analyzed by fixed or random models according to the heterogeneity presented among studies.We found significant negative association between the dominant inheritance model of p21 rs1801270 polymorphism (C/A+A/A and CC (pooled OR = 0.76; 95%CI: 0.63-0.91; p<0.01. We also found a negative association with the rs2048718 BRIP1 polymorphism dominant inheritance model (T/C+C/C and CC (pooled OR = 0.83; 95%CI: 0.70-0.98; p = 0.03, as well as with the rs11079454 BRIP1 polymorphism recessive inheritance model and CC (pooled OR = 0.79; 95%CI: 0.63-0.99; p = 0.04. Interestingly, we observed a strong tendency of the meta-analyzed studies to be of Asiatic origin (67%. We also found a significant low representation of African populations (4%.Our results provide evidence of the negative association of p21 rs1801270 polymorphism, as well as BRIP1 rs2048718 and rs11079454 polymorphisms, with CC risk. This study suggests the urgent need for more replication studies focused on GWAS identified CC susceptibility variants, in order to reveal the most informative genetic susceptibility markers for CC across different populations.

  16. Genetic networks inducing invasive growth in Saccharomyces cerevisiae identified through systematic genome-wide overexpression.

    Science.gov (United States)

    Shively, Christian A; Eckwahl, Matthew J; Dobry, Craig J; Mellacheruvu, Dattatreya; Nesvizhskii, Alexey; Kumar, Anuj

    2013-04-01

    The budding yeast Saccharomyces cerevisiae can respond to nutritional and environmental stress by implementing a morphogenetic program wherein cells elongate and interconnect, forming pseudohyphal filaments. This growth transition has been studied extensively as a model signaling system with similarity to processes of hyphal development that are linked with virulence in related fungal pathogens. Classic studies have identified core pseudohyphal growth signaling modules in yeast; however, the scope of regulatory networks that control yeast filamentation is broad and incompletely defined. Here, we address the genetic basis of yeast pseudohyphal growth by implementing a systematic analysis of 4909 genes for overexpression phenotypes in a filamentous strain of S. cerevisiae. Our results identify 551 genes conferring exaggerated invasive growth upon overexpression under normal vegetative growth conditions. This cohort includes 79 genes lacking previous phenotypic characterization. Pathway enrichment analysis of the gene set identifies networks mediating mitogen-activated protein kinase (MAPK) signaling and cell cycle progression. In particular, overexpression screening suggests that nuclear export of the osmoresponsive MAPK Hog1p may enhance pseudohyphal growth. The function of nuclear Hog1p is unclear from previous studies, but our analysis using a nuclear-depleted form of Hog1p is consistent with a role for nuclear Hog1p in repressing pseudohyphal growth. Through epistasis and deletion studies, we also identified genetic relationships with the G2 cyclin Clb2p and phenotypes in filamentation induced by S-phase arrest. In sum, this work presents a unique and informative resource toward understanding the breadth of genes and pathways that collectively constitute the molecular basis of filamentation.

  17. 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.

  18. 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

  19. 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

  20. A Genomic Encyclopedia of the Root Nodule Bacteria: assessing genetic diversity through a systematic biogeographic survey.

    Science.gov (United States)

    Reeve, Wayne; Ardley, Julie; Tian, Rui; Eshragi, Leila; Yoon, Je Won; Ngamwisetkun, Pinyaruk; Seshadri, Rekha; Ivanova, Natalia N; Kyrpides, Nikos C

    2015-01-01

    Root nodule bacteria are free-living soil bacteria, belonging to diverse genera within the Alphaproteobacteria and Betaproteobacteria, that have the capacity to form nitrogen-fixing symbioses with legumes. The symbiosis is specific and is governed by signaling molecules produced from both host and bacteria. Sequencing of several model RNB genomes has provided valuable insights into the genetic basis of symbiosis. However, the small number of sequenced RNB genomes available does not currently reflect the phylogenetic diversity of RNB, or the variety of mechanisms that lead to symbiosis in different legume hosts. This prevents a broad understanding of symbiotic interactions and the factors that govern the biogeography of host-microbe symbioses. Here, we outline a proposal to expand the number of sequenced RNB strains, which aims to capture this phylogenetic and biogeographic diversity. Through the Vavilov centers of diversity (Proposal ID: 231) and GEBA-RNB (Proposal ID: 882) projects we will sequence 107 RNB strains, isolated from diverse legume hosts in various geographic locations around the world. The nominated strains belong to nine of the 16 currently validly described RNB genera. They include 13 type strains, as well as elite inoculant strains of high commercial importance. These projects will strongly support systematic sequence-based studies of RNB and contribute to our understanding of the effects of biogeography on the evolution of different species of RNB, as well as the mechanisms that determine the specificity and effectiveness of nodulation and symbiotic nitrogen fixation by RNB with diverse legume hosts.

  1. The socioeconomics of genetically modified biofortified crops: a systematic review and meta-analysis.

    Science.gov (United States)

    De Steur, Hans; Wesana, Joshua; Blancquaert, Dieter; Van Der Straeten, Dominique; Gellynck, Xavier

    2017-02-01

    Building upon the growing interest and research on genetically modified (GM) biofortification, its socioeconomic potential has been increasingly examined. We conducted two systematic reviews and meta-analyses to provide comprehensive evidence of consumers' willingness to pay (11 economic valuation studies, 64 estimates) and cost-effectiveness/benefits (five economic evaluation studies, 30 estimates). Worldwide, consumers were willing to pay 23.9% more for GM biofortified food crops. Aside from crop and design-related differences, information provision was deemed crucial. Positive information (nutrition and GM benefits) is associated with the highest consumer willingness to pay, compared with negative, objective, and conflicting GM information, especially when negative information was mentioned last. This health intervention would reduce the aggregated micronutrient deficiency burden in Asia (15.6 million disability-adjusted life years (DALYs)) by 12.5-51.4%, at a low cost of USD 7.9-27.8 per DALY in a pessimistic and optimistic scenario, respectively. Given that GM biofortified crops could tackle hidden hunger in a cost-effective and well-accepted way, its implementation is worth pursuing. A case study on folate biofortification further elaborates on the importance of socioeconomic research and the determinants of their market potential. © 2016 New York Academy of Sciences.

  2. The deep venous system of the lower extremity: new nomenclature.

    Science.gov (United States)

    Kachlik, D; Pechacek, V; Musil, V; Baca, V

    2012-03-01

    The correct and precise nomenclature of the veins of the lower extremity is a necessary tool for communication. Three important changes have been done over the last 13 years. Terminologia Anatomica, the latest version of the Latin anatomical nomenclature, was published in 1998, extended in the area of the lower extremity veins with two consensus documents, in 2001, during the 14th World Congress of the International Union of Phlebology and in 2004 during the 21st World Congress of the International Union of Angiology. This article is a free continuation of two previous articles, reviewing the detailed anatomy and correct nomenclature of the superficial veins of the lower extremities and veins of pelvis. Now, it is concentrated on the deep venous system, in which 15 new terms have been added in both Latin and English languages.

  3. 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.

  4. 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

    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. We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. 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. The mean age at onset was earlier in those with MAPT mutations compared to PGRN (pphenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation.

  5. A proposal for universal nomenclature in implant prosthodontics.

    Science.gov (United States)

    Nase, John B

    2005-01-01

    Attempts have been made at formulating standardized nomenclature for implantology. Although these classification systems have advanced the concept of universal nomenclature in implantology, they can be improved upon. Most of them present terms in glossary form, which can limit their applicability. Others deviate significantly from accepted basic terminology and can be foreign or ambiguous to the average clinician. This article outlines the semiotic approach to language formulation, discusses slight changes to accepted conventional prosthodontic terminology to better encompass implant dentistry, and introduces the shortform and support-retention-connection-prosthesis classification systems.

  6. 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

  7. Genetic biomarkers for differential diagnosis of major depressive disorder and bipolar disorder: A systematic and critical review.

    Science.gov (United States)

    Menezes, Itiana Castro; von Werne Baes, Cristiane; Lacchini, Riccardo; Juruena, Mario Francisco

    2018-01-11

    Depressive symptoms are present in the depressive mood state of bipolar disorder (BPD) and major depression disorder (MDD). Often, in clinical practice, BPD patients are misdiagnosed with MDD. Therefore, genetic biomarkers could contribute to the improvement of differential diagnosis between BPD and MDD. This systematic and critical review aimed to find in literature reliable genetic biomarkers that may show differences between BPD and MDD. This systematic review followed the PRISMA-P method. The terms used to search PubMed, Scopus, PsycINFO, and Web of Science were depress*, bipolar, diagnos*, genetic*, biomark*. After applying the selection criteria, N = 27 studies were selected, being n = 9 about biomarkers for BPD; n = 15, about MDD; and n = 3 for distinguishing MDD from BPD. A total of N = 3086 subjects were assessed in the selected studies (n = 486 in BPD group; n = 1212 in MDD group; and n = 1388, healthy control group). The articles were dated up to June 2017. Of the N = 27 studies, n = 16 assessed gene, n = 1 miRNA, n = 2 lcnRNA and n = 3 protein expressions, n = 4 methylation, and n = 4 polymorphisms. Some studies applied more than one of these genetic analyses. To find reliable genetic biomarkers we have taken into account the methodological care during the studies development and their validity. The genetic biomarkers selected are related to genes that play a fundamental role in synaptic plasticity, neurogenesis, mood control, brain ageing, immune-inflammatory processes and mitochondrial respiratory chain. BDNF gene expression was one of the genetic biomarkers that highlighted because of its capacity of distinguishing BPD and MDD groups, and being adequately reproduced by more than one selected study. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Sex-specific genetic variance and the evolution of sexual dimorphism: a systematic review of cross-sex genetic correlations.

    Science.gov (United States)

    Poissant, Jocelyn; Wilson, Alastair J; Coltman, David W

    2010-01-01

    The independent evolution of the sexes may often be constrained if male and female homologous traits share a similar genetic architecture. Thus, cross-sex genetic covariance is assumed to play a key role in the evolution of sexual dimorphism (SD) with consequent impacts on sexual selection, population dynamics, and speciation processes. We compiled cross-sex genetic correlations (r(MF)) estimates from 114 sources to assess the extent to which the evolution of SD is typically constrained and test several specific hypotheses. First, we tested if r(MF) differed among trait types and especially between fitness components and other traits. We also tested the theoretical prediction of a negative relationship between r(MF) and SD based on the expectation that increases in SD should be facilitated by sex-specific genetic variance. We show that r(MF) is usually large and positive but that it is typically smaller for fitness components. This demonstrates that the evolution of SD is typically genetically constrained and that sex-specific selection coefficients may often be opposite in sign due to sub-optimal levels of SD. Most importantly, we confirm that sex-specific genetic variance is an important contributor to the evolution of SD by validating the prediction of a negative correlation between r(MF) and SD.

  9. 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.

  10. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.

    Science.gov (United States)

    Persson, Bengt; Kallberg, Yvonne; Bray, James E; Bruford, Elspeth; Dellaporta, Stephen L; Favia, Angelo D; Duarte, Roser Gonzalez; Jörnvall, Hans; Kavanagh, Kathryn L; Kedishvili, Natalia; Kisiela, Michael; Maser, Edmund; Mindnich, Rebekka; Orchard, Sandra; Penning, Trevor M; Thornton, Janet M; Adamski, Jerzy; Oppermann, Udo

    2009-03-16

    Short-chain dehydrogenases/reductases (SDR) constitute one of the largest enzyme superfamilies with presently over 46,000 members. In phylogenetic comparisons, members of this superfamily show early divergence where the majority have only low pairwise sequence identity, although sharing common structural properties. The SDR enzymes are present in virtually all genomes investigated, and in humans over 70 SDR genes have been identified. In humans, these enzymes are involved in the metabolism of a large variety of compounds, including steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. It is now clear that SDRs represent one of the oldest protein families and contribute to essential functions and interactions of all forms of life. As this field continues to grow rapidly, a systematic nomenclature is essential for future annotation and reference purposes. A functional subdivision of the SDR superfamily into at least 200 SDR families based upon hidden Markov models forms a suitable foundation for such a nomenclature system, which we present in this paper using human SDRs as examples.

  11. A Primer on Polymer Nomenclature: Structure-Based, Sourced- Based, and Trade Names

    Science.gov (United States)

    Cheng, H. N.; Howell, Bob A.

    2017-01-01

    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 structurebased and source-based nomenclatures, together with trivial and trade…

  12. Chemical Nomenclature, Symbols and Terminology for Use in School Science.

    Science.gov (United States)

    Smith, C. G.; And Others

    This report contains recommendations on chemical nomenclature, guidance on symbols, and terminology and units for physiochemical quantities. This report, intended to provide guidance to science teachers, consists of eleven sections: (1) general introduction; (2) introduction to symbols, terminology, and units for physiochemical quantities; (3)…

  13. 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.

  14. A HISTORY OF MILITARY NOMENCLATURE IN SOUTH AFRICA

    African Journals Online (AJOL)

    touches on politically sensitive issues, one should to bear in mind that, like most things, the provision of names and titles does not take place inside a vacuum. The nomenclature policy has therefore always been susceptible to the political climate, which has often determined the direction it has taken in South Africa over the ...

  15. 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

  16. 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

  17. 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

  18. Genetic and non-genetic risk factors for pre-eclampsia: an umbrella review of systematic reviews and meta-analyses of observational studies.

    Science.gov (United States)

    Giannakou, Konstantinos; Evangelou, Evangelos; Papatheodorou, Stefania I

    2017-11-16

    To summarize evidence from the literature on the risk factors associated with preeclampsia, assess the presence of statistical biases and identify associations with robust evidence. We searched PubMed and ISI Web of Science from inception to October, 2016, to identify systematic reviews and meta-analyses of observational studies examining associations between genetic and non-genetic risk factors for preeclampsia. For each meta-analysis we estimated the summary effect size by random-effects and fixed-effects models, the 95% confidence interval and the 95% prediction interval. We estimated the between-study heterogeneity expressed by I 2 (considering above 75% as very large), evidence of small-study effects (large studies had significantly more conservative results than smaller studies and evidence of excess significance bias (too many studies with statistically significant results). Fifty-seven eligible papers were identified providing data on 130 associations including 1466 primary studies, covering a very wide range of risk factors: co-morbid diseases, genetic factors, exposure to environmental agents and a range of biomarkers. Sixty-five (50%) associations had nominally statistically significant findings at P1000 cases, 95% prediction intervals excluding the null, not suggestive of large heterogeneity (I 2 0.10), or excess of significance (P>0.05). Across the statistically significant genetic risk factors (Pfactors (serum iron level, PAPP-A, chronic kidney disease, polycystic ovary syndrome, mental stress, bacterial & viral infections, cigarette smoking, oocyte donation vs assisted reproductive technology, obese vs normal weight women, severe obese vs normal weight women and primiparity) presented highly suggestive evidence for preeclampsia. A large proportion of meta-analyses of genetic and non-genetic risk factors for preeclampsia have caveats, which threaten their validity. Oocyte donation vs normal conception and PAI-1 4G/5G polymorphism (recessive model

  19. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

    Science.gov (United States)

    Otten, Ellen; Plantinga, Mirjam; Birnie, Erwin; Verkerk, Marian A; Lucassen, Anneke M; Ranchor, Adelita V; Van Langen, Irene M

    2015-08-01

    With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice. We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review. The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients. To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.

  20. 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...

  1. 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.

  2. New insights into the classification and nomenclature of cortical GABAergic interneurons

    Science.gov (United States)

    DeFelipe, Javier; López-Cruz, Pedro L.; Benavides-Piccione, Ruth; Bielza, Concha; Larrañaga, Pedro; Anderson, Stewart; Burkhalter, Andreas; Cauli, Bruno; Fairén, Alfonso; Feldmeyer, Dirk; Fishell, Gord; Fitzpatrick, David; Freund, Tamás F.; González-Burgos, Guillermo; Hestrin, Shaul; Hill, Sean; Hof, Patrick R.; Huang, Josh; Jones, Edward G.; Kawaguchi, Yasuo; Kisvárday, Zoltán; Kubota, Yoshiyuki; Lewis, David A.; Marín, Oscar; Markram, Henry; McBain, Chris J.; Meyer, Hanno S.; Monyer, Hannah; Nelson, Sacha B.; Rockland, Kathleen; Rossier, Jean; Rubenstein, John L. R.; Rudy, Bernardo; Scanziani, Massimo; Shepherd, Gordon M.; Sherwood, Chet C.; Staiger, Jochen F.; Tamás, Gábor; Thomson, Alex; Wang, Yun; Yuste, Rafael; Ascoli, Giorgio A.

    2013-01-01

    A systematic classification and accepted nomenclature of neuron types is much needed but is currently lacking. This article describes a possible taxonomical solution for classifying GABAergic interneurons of the cerebral cortex based on a novel, web-based interactive system that allows experts to classify neurons with pre-determined criteria. Using Bayesian analysis and clustering algorithms on the resulting data, we investigated the suitability of several anatomical terms and neuron names for cortical GABAergic interneurons. Moreover, we show that supervised classification models could automatically categorize interneurons in agreement with experts’ assignments. These results demonstrate a practical and objective approach to the naming, characterization and classification of neurons based on community consensus. PMID:23385869

  3. 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

  4. Contribution to the anatomical nomenclature concerning upper limb anatomy.

    Science.gov (United States)

    Kachlik, David; Musil, Vladimir; Baca, Vaclav

    2017-04-01

    The aim of this article is to revise and extend the existing sections of Terminologia Anatomica dealing with the upper limb structures, which nomenclature belongs to its most neglected and not developing parts, and to justify the use of the proposed anatomical terms in the clinical practice, research, and education. A sample collected from own educational and research experience was matched in the main anatomical textbooks as well as old and recent anatomical journals and compared with four versions of the official Latin anatomical nomenclatures. The authors summarize here 145 terms, completed with their definitions or explanations, concerning both constant and variable (inconstant) morphological structures (bones, joints, muscles, vessels, and nerves) of the pectoral girdle, arm, cubital region, forearm, wrist, and hand, completed with some grammar remarks and several general terms. After a broad discussion on this topic, the Terminologia Anatomica should be revised and extend with the listed terms (or their equivalents).

  5. 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.

  6. Role of advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion: a systematic review.

    Science.gov (United States)

    McCrea, Michael; Meier, Timothy; Huber, Daniel; Ptito, Alain; Bigler, Erin; Debert, Chantel T; Manley, Geoff; Menon, David; Chen, Jen-Kai; Wall, Rachel; Schneider, Kathryn J; McAllister, Thomas

    2017-06-01

    To conduct a systematic review of published literature on advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion (SRC). Computerised searches of Medline, PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO, Scopus and Cochrane Library from 1 January 2000 to 31 December 2016 were done. There were 3222 articles identified. In addition to medical subject heading terms, a study was included if (1) published in English, (2) represented original research, (3) involved human research, (4) pertained to SRC and (5) involved data from neuroimaging, fluid biomarkers or genetic testing collected within 6 months of injury. Ninety-eight studies qualified for review (76 neuroimaging, 16 biomarkers and 6 genetic testing). Separate reviews were conducted for neuroimaging, biomarkers and genetic testing. A standardised data extraction tool was used to document study design, population, tests employed and key findings. Reviewers used a modified quality assessment of studies of diagnostic accuracy studies (QUADAS-2) tool to rate the risk of bias, and a modified Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system to rate the overall level of evidence for each search. Results from the three respective reviews are compiled in separate tables and an interpretive summary of the findings is provided. Advanced neuroimaging, fluid biomarkers and genetic testing are important research tools, but require further validation to determine their ultimate clinical utility in the evaluation of SRC. Future research efforts should address current gaps that limit clinical translation. Ultimately, research on neurobiological and genetic aspects of SRC is predicted to have major translational significance to evidence-based approaches to clinical management of SRC, much like applied clinical research has had over the past 20 years. © Article author(s) (or their employer(s) unless otherwise

  7. 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.

  8. Phylogeny, identification and nomenclature of the genus Aspergillus

    DEFF Research Database (Denmark)

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

    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...

  9. 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.

  10. An approach to the nomenclature of anuran musculature

    Directory of Open Access Journals (Sweden)

    Hoyos, Julio Mario

    2004-07-01

    Full Text Available Se propone un método particular para seleccionar, de los nombres ya existentes, el más apropiado para cada músculo, y un método general para escoger los nombres apropiados de las estructuras anatómicas. Estos nombres están basados en los Nomina Anatomica y en el Código de Nomenclatura Zoológica. Se utiliza la ley de prioridad para seleccionar el nombre del músculo, y se discuten los criterios de homología primaria, homología secundaria e identidad topográfica para reforzar la idea de estabilidad nomenclatural. Se sugiere una secuencia para establecer la correspondencia entre los nombres y la homología de las estructuras, comenzando con la identificación de la correspondencia topológica (homología primaria y terminando con el reconocimiento de la identidad topográfica y las homologías secundarias. A new nomenclature of anuran muscles and a general method to choose the appropriate names of anatomical structures are proposed. These names are based on the Nomina Anatomica and on the Code of Zoological Nomenclature. The law of priority is used to select the muscle name to adopt, and the criteria of primary homology, secondary homology, and topographic identity are discussed to encourage the idea of nomenclatural stability of anatomical structures. A sequence to establish a correspondence between names and the homology of structures is suggested, beginning with the identification of topological correspondence (primary homology and ending with the recognition of the topographic identity and secondary homologies.

  11. The superficial venous system of the lower extremity: new nomenclature.

    Science.gov (United States)

    Kachlik, D; Pechacek, V; Baca, V; Musil, V

    2010-06-01

    The phlebology in the area of lower limbs is the only medical field in which the terminological needs of clinicians were met. Ten years ago, the latest revision of the Latin anatomical nomenclature, Terminologia Anatomica (TA), was issued. But almost none of the chapters reflected the clinicians' need to be a relevant theoretical base for correct diagnostics and appropriate treatment. In 2001, during the 14th World Congress of the International Union of Phlebology, a consensus document (under the auspices of Federative International Committee on Anatomical Terminology and International Federation of Associations of Anatomists) was laid to expand the nomenclature of the lower extremity venous system. Some terms have been changed and several new have been added, corresponding to their clinical significance and anatomical positions. Sixteen new terms have been added in both Latin and English languages in the chapter concerning the superficial veins of the lower limb. This consensus document will be incorporated into the next version of the TA. The international anatomical nomenclature serves as a communication base for research, diagnostic, therapy and information exchange in phlebological sciences.

  12. Unremitting problems with chlorogenic acid Nomenclature: A review

    Directory of Open Access Journals (Sweden)

    Daniel Kremr

    2016-05-01

    Full Text Available This paper summarizes a problematic nomenclature of isomers belonging to chlorogenic acid family since its first occurrence until present. During decades, there have been a high number of articles dealing with the family. Unfortunately, researchers who want to get knowledge about this topic may be strongly confused after reading a few articles. Due to gradual discoveries and isolations of the individual isomers from plenty of matrices and because of the changing system of terminology after these discoveries, discrepancies among articles are common. The cause of this confusion is that the main compound of the family, 5-caffeoylquinic acid (also well-known as chlorogenic acid, was truly called as 3-caffeoylquinic acid before 1976, when new rules for nomenclature were published. Many researchers and also chemicals suppliers, however, keep using the "pre-IUPAC" nomenclature and wrongly call 3-caffeoylquinic acid as chlorogenic acid, the main substituent of the family. Despite there have been some works struggling with this issue, the problem is still appearing. Therefore, the present work was written.

  13. 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.

  14. Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature

    Directory of Open Access Journals (Sweden)

    Ruth H. Walker

    2012-02-01

    Full Text Available Chorea can be caused by a multitude of etiologies: neurodegenerative, pharmacological, structural, metabolic, and others. In absence of other apparent causes, exclusion of Huntington's disease is often a first step in the diagnostic process. There are a number of neurodegenerative disorders whose genetic etiology has been identified in the past decade. Molecular diagnosis has enabled genetic identification of disorder subtypes which were previously grouped together, such as the neurodegeneration with brain iron accumulation disorders and the neuroacanthocytosis syndromes, as well as identification of phenotypic outliers for recognized disorders. Correct molecular diagnosis is essential for genetic counseling and, hopefully, ultimately genetic therapies. In addition, there has recently been recognition of other disorders which can mimic neurodegenerative disorders, including paraneoplastic and prion disorders. This article focuses upon recent developments in the field but is not intended to provide an exhaustive review of all causes of chorea, which is available elsewhere. I also discuss the nomenclature of these disorders which has become somewhat unwieldy, but may ultimately be refined by association with the causative gene.

  15. 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

  16. 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.

  17. Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol.

    Science.gov (United States)

    Nansseu, Jobert Richie N; Ngo-Um, Suzanne S; Balti, Eric V

    2016-11-10

    In the absence of existing data, the present review intends to determine the incidence, prevalence and/or genetic determinants of neonatal diabetes mellitus (NDM), with expected contribution to disease characterization. We will include cross-sectional, cohort or case-control studies which have reported the incidence, prevalence and/or genetic determinants of NDM between January 01, 2000 and May 31, 2016, published in English or French languages and without any geographical limitation. PubMed and EMBASE will be extensively screened to identify potentially eligible studies, completed by manual search. Two authors will independently screen, select studies, extract data, and assess the risk of bias; disagreements will be resolved by consensus. Clinical heterogeneity will be investigated by examining the design and setting (including geographic region), procedure used for genetic testing, calculation of incidence or prevalence, and outcomes in each study. Studies found to be clinically homogeneous will be pooled together through a random effects meta-analysis. Statistical heterogeneity will be assessed using the chi-square test of homogeneity and quantified using the I 2 statistic. In case of substantial heterogeneity, subgroup analyses will be undertaken. Publication bias will be assessed with funnel plots, complemented with the use of Egger's test of bias. This systematic review and meta-analysis is expected to draw a clear picture of phenotypic and genotypic presentations of NDM in order to better understand the condition and adequately address challenges in respect with its management. PROSPERO CRD42016039765.

  18. 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 of ...

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. 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

  4. Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma

    DEFF Research Database (Denmark)

    Hansen, Morten Steen Svarer; Jacobsen, Niels; Frederiksen, Anja Lisbeth

    2017-01-01

    for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2...

  5. hMPV Lineage Nomenclature and Heparin Binding

    Directory of Open Access Journals (Sweden)

    David Gordon

    2013-10-01

    Full Text Available Human metapneumovirus (hMPV, first described in 2001 [1], is responsible for causing serious respiratory illness in young children, the elderly and immunocompromised patients. Four distinct lineages of hMPV have been identified with the original nomenclature for these subgroups (A1, A2, B1 and B2, reported by van den Hoogen et al. [2], utilised by many. An alternate terminology (1A, 1B, 2A and 2B was also published by Ishiguro et al. in 2004 [3] which has been adopted by others. However, this has caused some confusion in the interpretation of publication results as the terminology is similar yet describes different subtypes. As a result, a number of investigators have made a submission to the International Committee on Taxonomy of Viruses (ICTV, ICTV taxonomic proposal 2012.012V for the official adoption of the original terminology as an approved nomenclature for hMPV [4]. We welcome this officially approved nomenclature which should provide clarification of these subtypes in future. Therefore to assist with the interpretation of our recently published research in the 2012 special issue of Viruses: Pneumoviruses and Metapneumoviruses entitled “Diversity in Glycosaminoglycan Binding Amongst hMPV G Protein Lineages” [5] we have updated the Figure 3 in this letter (see Figure 1, showing the proposed ICTV terminology compared to the Ishiguro classification (used in our publication. Note that in the original publication the alphanumeric order for the Ishiguro classification was transposed (e.g., 1A was referred to as A1.

  6. 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

  7. 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

  8. Systematic analysis of Ca2+ homeostasis in Saccharomyces cerevisiae based on chemical-genetic interaction profiles

    Science.gov (United States)

    Ghanegolmohammadi, Farzan; Yoshida, Mitsunori; Ohnuki, Shinsuke; Sukegawa, Yuko; Okada, Hiroki; Obara, Keisuke; Kihara, Akio; Suzuki, Kuninori; Kojima, Tetsuya; Yachie, Nozomu; Hirata, Dai; Ohya, Yoshikazu

    2017-01-01

    We investigated the global landscape of Ca2+ homeostasis in budding yeast based on high-dimensional chemical-genetic interaction profiles. The morphological responses of 62 Ca2+-sensitive (cls) mutants were quantitatively analyzed with the image processing program CalMorph after exposure to a high concentration of Ca2+. After a generalized linear model was applied, an analysis of covariance model was used to detect significant Ca2+–cls interactions. We found that high-dimensional, morphological Ca2+–cls interactions were mixed with positive (86%) and negative (14%) chemical-genetic interactions, whereas one-dimensional fitness Ca2+–cls interactions were all negative in principle. Clustering analysis with the interaction profiles revealed nine distinct gene groups, six of which were functionally associated. In addition, characterization of Ca2+–cls interactions revealed that morphology-based negative interactions are unique signatures of sensitized cellular processes and pathways. Principal component analysis was used to discriminate between suppression and enhancement of the Ca2+-sensitive phenotypes triggered by inactivation of calcineurin, a Ca2+-dependent phosphatase. Finally, similarity of the interaction profiles was used to reveal a connected network among the Ca2+ homeostasis units acting in different cellular compartments. Our analyses of high-dimensional chemical-genetic interaction profiles provide novel insights into the intracellular network of yeast Ca2+ homeostasis. PMID:28566553

  9. 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.)

  10. A unified phylogeny-based nomenclature for histone variants

    Directory of Open Access Journals (Sweden)

    Talbert Paul B

    2012-06-01

    Full Text Available Abstract Histone variants are non-allelic protein isoforms that play key roles in diversifying chromatin structure. The known number of such variants has greatly increased in recent years, but the lack of naming conventions for them has led to a variety of naming styles, multiple synonyms and misleading homographs that obscure variant relationships and complicate database searches. We propose here a unified nomenclature for variants of all five classes of histones that uses consistent but flexible naming conventions to produce names that are informative and readily searchable. The nomenclature builds on historical usage and incorporates phylogenetic relationships, which are strong predictors of structure and function. A key feature is the consistent use of punctuation to represent phylogenetic divergence, making explicit the relationships among variant subtypes that have previously been implicit or unclear. We recommend that by default new histone variants be named with organism-specific paralog-number suffixes that lack phylogenetic implication, while letter suffixes be reserved for structurally distinct clades of variants. For clarity and searchability, we encourage the use of descriptors that are separate from the phylogeny-based variant name to indicate developmental and other properties of variants that may be independent of structure.

  11. The venous system of the pelvis: new nomenclature.

    Science.gov (United States)

    Kachlik, D; Pechacek, V; Musil, V; Baca, V

    2010-08-01

    The clinical venous anatomy of the pelvis and its veins featured a break-through during the past few years. Not only the diagnostic and therapeutical methods but also the knowledge of the functional anatomy and nomenclatures of the veins underwent substantial changes. Eleven years ago, the most recent revision of the Latin anatomical nomenclature, Terminologia Anatomica (TA, 1998) was issued. In 2004, during the 21st World Congress of the International Union of Angiology, a consensus document (under the auspices of Federative International Committee on Anatomical Terminology and International Federation of Associations of Anatomists), reflecting phlebologists' requests for new terms and replacing several insufficient ones, was accepted. Six new terms were added in both Latin and English languages in the chapter concerning the veins of the pelvis. Eponyms are not considered equal synonyms and moreover only one of them was recommended for general use. Detailed anatomy of the veins of the pelvis is discussed. This consensus document will be incorporated in the next version of the Teminologia Anatomica.

  12. 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...

  13. Systematic analysis of Ca2+ homeostasis in Saccharomyces cerevisiae based on chemical-genetic interaction profiles.

    Science.gov (United States)

    Ghanegolmohammadi, Farzan; Yoshida, Mitsunori; Ohnuki, Shinsuke; Sukegawa, Yuko; Okada, Hiroki; Obara, Keisuke; Kihara, Akio; Suzuki, Kuninori; Kojima, Tetsuya; Yachie, Nozomu; Hirata, Dai; Ohya, Yoshikazu

    2017-11-07

    We investigated the global landscape of Ca 2+ homeostasis in budding yeast based on high-dimensional chemical-genetic interaction profiles. The morphological responses of 62 Ca 2+ -sensitive ( cls ) mutants were quantitatively analyzed with the image processing program CalMorph after exposure to a high concentration of Ca 2+ After a generalized linear model was applied, an analysis of covariance model was used to detect significant Ca 2+ - cls interactions. We found that high-dimensional, morphological Ca 2+ - cls interactions were mixed with positive (86%) and negative (14%) chemical-genetic interactions, whereas one-dimensional fitness Ca 2+ - cls interactions were all negative in principle. Clustering analysis with the interaction profiles revealed nine distinct gene groups, six of which were functionally associated. In addition, characterization of Ca 2+ - cls interactions revealed that morphology-based negative interactions are unique signatures of sensitized cellular processes and pathways. Principal component analysis was used to discriminate between suppression and enhancement of the Ca 2+ -sensitive phenotypes triggered by inactivation of calcineurin, a Ca 2+ -dependent phosphatase. Finally, similarity of the interaction profiles was used to reveal a connected network among the Ca 2+ homeostasis units acting in different cellular compartments. Our analyses of high-dimensional chemical-genetic interaction profiles provide novel insights into the intracellular network of yeast Ca 2+ homeostasis. © 2017 Ghanegolmohammadi, Yoshida, et al. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

  14. 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-...

  15. 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…

  16. 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.

  17. 78 FR 15956 - Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation...

    Science.gov (United States)

    2013-03-13

    ..., disintegration, or dissolution, which can affect how much drug is present in a split tablet and available for...] 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...

  18. Genetics

    Science.gov (United States)

    ... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...

  19. 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.

  20. 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.

  1. Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta-analysis.

    Science.gov (United States)

    Assis Machado, Renato; de Toledo, Isabela Porto; Martelli-Júnior, Hercilio; Reis, Silvia Regina; Neves Silva Guerra, Eliete; Coletta, Ricardo D

    2018-02-15

    Although various genes and genomic regions were described as of susceptibility for nonsyndromic oral clefts (NOC), recent reports have demonstrated significant interethnic variations in the genetic predisposition, a situation that affects the Brazilian population, one of the most admixed populations in the world. Therefore, the purpose of this review was to describe the available information on genetic risk markers for NOC in the Brazilian population. A systematic search of the literature was performed using LILACS, LIVIVO, PubMed, Scopus, and Web of Science databases, and studies that investigated genetic susceptibility markers for NOC in the Brazilian population were retrieved. Markers with enough statistical data were subjected to meta-analysis using random- or fixed-effects model with odds ratio (OR) and 95% confidence intervals (95% CI) as effect measures. Forty-nine studies conducted since 1999 were found, and in these 114 markers were evaluated throughout case-control or family-based approaches. Most of the studies were conducted with patients affected by nonsyndromic cleft lip with or without cleft palate (NSCL ± P), and 79 markers (69.3%) were evaluated by a single study only. Meta-analysis was performed with nine markers, and the most promising results were obtained for IRF6 (rs642961), 8q24 (rs987525 and rs1530300) and MTHFR (rs1801133), which were associated with increased risk for NSCL ± P, and for BMP4 (rs17563) that showed a protective effect for NSCL ± P. A large number of genetic markers distributed in several genes/loci was associated with NOC in the Brazilian population, but in general the original studies included limited number of samples and unsatisfactory protocols. The classical risk markers located in IRF6 and 8q24 showed promising results as well as rs1801133 in MTHFR and rs17563 in BMP4, and they should be validated in larger and multicenter studies taking in consideration the variations in the miscegenation of Brazilian

  2. Short notes and reviews Zoological nomenclature – reflections on the recent past and ideas for our future agenda

    NARCIS (Netherlands)

    Minelli, Alessandro

    2001-01-01

    A couple of weeks after the start of my service as President of the International Commission on Zoological Nomenclature, a paper of mine appeared in the Bulletin of Zoological Nomenclature (Minelli, 1995) in which I outlined some major challenges to be faced by biological nomenclature in response to

  3. Analysis of polyhydroxybutyrate flux limitations by systematic genetic and metabolic perturbations.

    Science.gov (United States)

    Tyo, Keith E J; Fischer, Curt R; Simeon, Fritz; Stephanopoulos, Gregory

    2010-05-01

    Poly-3-hydroxybutyrate (PHB) titers in Escherichia coli have benefited from 10+ years of metabolic engineering. In the majority of studies, PHB content, expressed as percent PHB (dry cell weight), is increased, although this increase can be explained by decreases in growth rate or increases in PHB flux. In this study, growth rate and PHB flux were quantified directly in response to systematic manipulation of (1) gene expression in the product-forming pathway and (2) growth rates in a nitrogen-limited chemostat. Gene expression manipulation revealed acetoacetyl-CoA reductase (phaB) limits flux to PHB, although overexpression of the entire pathway pushed the flux even higher. These increases in PHB flux are accompanied by decreases in growth rate, which can be explained by carbon diversion, rather than toxic effects of the PHB pathway. In chemostats, PHB flux was insensitive to growth rate. These results imply that PHB flux is primarily controlled by the expression levels of the product forming pathway and not by the availability of precursors. These results confirm prior in vitro measurements and metabolic models and show expression level is a major affecter of PHB flux. 2009 Elsevier Inc. All rights reserved.

  4. Systematic genetic dissection of chitin degradation and uptake in Vibrio cholerae.

    Science.gov (United States)

    Hayes, Chelsea A; Dalia, Triana N; Dalia, Ankur B

    2017-10-01

    Vibrio cholerae is a natural resident of the aquatic environment, where a common nutrient is the chitinous exoskeletons of microscopic crustaceans. Chitin utilization requires chitinases, which degrade this insoluble polymer into soluble chitin oligosaccharides. These oligosaccharides also serve as an inducing cue for natural transformation in Vibrio species. There are 7 predicted endochitinase-like genes in the V. cholerae genome. Here, we systematically dissect the contribution of each gene to growth on chitin as well as induction of natural transformation. Specifically, we created a strain that lacks all 7 putative chitinases and from this strain, generated a panel of strains where each expresses a single chitinase. We also generated expression plasmids to ectopically express all 7 chitinases in our chitinase deficient strain. Through this analysis, we found that low levels of chitinase activity are sufficient for natural transformation, while growth on insoluble chitin as a sole carbon source requires more robust and concerted chitinase activity. We also assessed the role that the three uptake systems for the chitin degradation products GlcNAc, (GlcNAc) 2 and (GlcN) 2 , play in chitin utilization and competence induction. Cumulatively, this study provides mechanistic details for how this pathogen utilizes chitin to thrive and evolve in its environmental reservoir. © 2017 Society for Applied Microbiology and John Wiley & Sons Ltd.

  5. Les règles de nomenclature - Histoire et fonctionnement

    OpenAIRE

    Malécot, Valéry,

    2008-01-01

    Dès ses premiers travaux (par exemple le Fundamenta Botanica de 1736), Linné a exposé les " règles arbitraires " de nomenclature qu'il suivait, en particulier de règles d'orthographe et de synonymie / homonymie. À la fin du xviiie et au début du xixe siècle, d'autres botanistes critiquent les règles de Linné (par exemple Heister) ou exposent les leurs (par exemple Augustin de Candolle et Lindley), mais globalement durant cette période les règles ont été implicites et relativement peu appliqué...

  6. Disharmony of the spheres: Recent trends in planetary surface nomenclature

    Science.gov (United States)

    Pike, R.J.

    1976-01-01

    Inadvisable departures from tradition in naming newly mapped features on Mars, Mercury, and the Moon have been implemented and proposed since 1970. Functional need for place names also has become confused with cartographic convenience. Much of the resulting new nomenclature is neither unique, efficient, nor imaginative. The longstanding classical orientation in Solar System geography needs to be firmly reasserted. The Ma??dler scheme for designating smaller craters on the Moon should be retained and extended to the farside. Names of surface features on other bodies might best reflect the traditional connotations of planet and satellite names: for example, most crates on Mars would be named for mythical heroes and military personalities in ancient history, craters on Mercury might commemorate explorers or commercial luminaries, and features on Venus would bear the names of famous women. ?? 1976.

  7. Macrophage activation and polarization: nomenclature and experimental guidelines.

    Science.gov (United States)

    Murray, Peter J; Allen, Judith E; Biswas, Subhra K; Fisher, Edward A; Gilroy, Derek W; Goerdt, Sergij; Gordon, Siamon; Hamilton, John A; Ivashkiv, Lionel B; Lawrence, Toby; Locati, Massimo; Mantovani, Alberto; Martinez, Fernando O; Mege, Jean-Louis; Mosser, David M; Natoli, Gioacchino; Saeij, Jeroen P; Schultze, Joachim L; Shirey, Kari Ann; Sica, Antonio; Suttles, Jill; Udalova, Irina; van Ginderachter, Jo A; Vogel, Stefanie N; Wynn, Thomas A

    2014-07-17

    Description of macrophage activation is currently contentious and confusing. Like the biblical Tower of Babel, macrophage activation encompasses a panoply of descriptors used in different ways. The lack of consensus on how to define macrophage activation in experiments in vitro and in vivo impedes progress in multiple ways, including the fact that many researchers still consider there to be only two types of activated macrophages, often termed M1 and M2. Here, we describe a set of standards encompassing three principles-the source of macrophages, definition of the activators, and a consensus collection of markers to describe macrophage activation-with the goal of unifying experimental standards for diverse experimental scenarios. Collectively, we propose a common framework for macrophage-activation nomenclature. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Contribution to the anatomical nomenclature concerning lower limb anatomy.

    Science.gov (United States)

    Kachlik, David; Musil, Vladimir; Baca, Vaclav

    2017-09-18

    The aim of this article is to extend and revise the sections of Terminologia Anatomica (TA) dealing with the lower limb structures and to justify the use of newly proposed anatomical terms in clinical medicine, education, and research. Anatomical terms were gathered during our educational experience from anatomical textbooks and journals and compared with the four previous editions of the official Latin anatomical nomenclature. The authors summarise 270 terms with their definitions and explanations for both constant and variable morphological structures (bones, joints, muscles, vessels, nerves and superficial structures) of the hip, thigh, knee, leg, ankle, and foot completed with several grammatical remarks and some general anatomical terms. The proposed terms should be discussed in wider anatomical community and potentially added to next edition of the TA.

  9. 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

  10. 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

  11. 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.

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

    Science.gov (United States)

    Alemu, S W; Berg, P; Janss, L; Bijma, P

    2016-02-01

    Social interactions among individuals are abundant, both in wild and in domestic populations. With social interactions, the genes of an individual may affect the trait values of other individuals, a phenomenon known as indirect genetic effects (IGEs). IGEs can be estimated using linear mixed models. Most IGE models assume that individuals interact equally to all group mates irrespective of relatedness. Kin selection theory, however, predicts that an individual will interact differently with family members versus non-family members. Here, we investigate kin- and sex-specific non-genetic social 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-based IGE model proposed in a previous study. Our results indicate that male siblings in mink show different non-genetic interactions than female siblings in mink and that this may impact the estimation of genetic parameters. Moreover, we have shown how estimates from a family-based IGE model can be translated to the ordinary direct-indirect model and vice versa. We find no evidence for genetic differences in interactions among related versus unrelated mink. © 2015 The Authors. Journal of Animal Breeding and Genetics Published by Blackwell Verlag GmbH.

  13. 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...

  14. 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.

  15. 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.

  16. 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.

  17. Community intelligence in knowledge curation: an application to managing scientific nomenclature.

    Directory of Open Access Journals (Sweden)

    Lin Dai

    Full Text Available 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 importance, not only for communications and collaborations with English-speaking people, but also for knowledge dissemination among people in the non-English-speaking world, particularly young students and researchers. However, it lacks of accuracy and standardization when translating scientific nomenclature from English to other languages, especially for those languages that do not belong to the same language family as English. To address this issue, here we propose for the first time the application of community intelligence in scientific nomenclature management, namely, harnessing collective intelligence for translation of scientific nomenclature from English to other languages. As community intelligence applied to knowledge curation is primarily aided by wiki and Chinese is the native language for about one-fifth of the world's population, we put the proposed application into practice, by developing a wiki-based English-to-Chinese Scientific Nomenclature Dictionary (ESND; http://esnd.big.ac.cn. ESND is a wiki-based, publicly editable and open-content platform, exploiting the whole power of the scientific community in collectively and collaboratively managing scientific nomenclature. Based on community curation, ESND is capable of achieving accurate, standard, and comprehensive scientific nomenclature, demonstrating a valuable application of community intelligence in knowledge curation.

  18. 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.

  19. AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

    Science.gov (United States)

    Colobran, Roger; Giménez-Barcons, Mireia; Marín-Sánchez, Ana; Porta-Pardo, Eduard; Pujol-Borrell, Ricardo

    2016-08-01

    Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD. A case-control association study using 29 variants and conducted in 150 GD patients and 200 controls did not detect any significant association. This result is not exceptional: a systematic review of the literature, including GWAS, on the association of AIRE variants with organ specific autoimmune diseases did not show clear associations; similarly heterozygous recessive mutations are not associated to non-Mendelian autoimmunity. Dominant negative mutations of AIRE are associated to autoimmunity but as mild forms of APECED rather than to non-Mendelian organ specific autoimmunity. The lack of association of common AIRE polymorphisms with polygenic autoimmune diseases is counterintuitive as many other genes less relevant for immunological tolerance have been found to be associated. These findings give rise to the intriguing possibility that evolution has excluded functionally modifying polymorphisms in AIRE. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  20. 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.

  1. 5-HT Receptor Nomenclature: Naming Names, Does It Matter? A Tribute to Maurice Rapport.

    Science.gov (United States)

    Hoyer, Daniel

    2017-05-17

    The naming of 5-HT receptors has been challenging, especially in the early days when the concept of multiple receptors for a single neurotransmitter was considered to be unrealistic at best. Yet pharmacological (rank orders of potency in functional or biochemical settings) and transductional evidence (second messengers, electrophysiology) clearly indicated the existence of receptor families and subfamilies. The genetic revolution, with the cloning and study of recombinantly expressed receptors, and eventually the cloning of the human and other genomes have made such reservations obsolete. Further, the advances in structural biology, with the possibility to study ligand receptor complexes as crystals and/or using solution NMR have largely confirmed the complexity of the 5-HT receptor system: species differences, existence of multiple receptor active and inactive states, splice variants, editing variants, complexes with multiple interacting proteins and transduction bias. This is a short personal history on how advances in biochemistry, molecular biology, biophysics, imaging and medicinal chemistry, some lateral thinking, and a decent amount of collaborative spirit within the 5-HT receptor nomenclature committee and the 5-HT community at large have helped to better define the pharmacology of the 5-HT receptor family.

  2. What happened to the streptococci: overview of taxonomic and nomenclature changes.

    Science.gov (United States)

    Facklam, Richard

    2002-10-01

    Since the division of the Streptococcus genus into enterococci, lactococci, and streptococci in 1984, many changes in the nomenclature and taxonomy of the Streptococcus genus have taken place. The application of genetic comparisons has improved the proper classification of the different species. The Lancefield system of serogrouping the streptococci by the expression of beta-hemolysis on blood agar plates is still very useful for the identification of streptococci for patient management. The Lancefield grouping system cannot be used in itself for accurate identification of specific beta-hemolytic species, but it can be a useful part of the identification procedure. Except for identification of the "Streptococcus bovis group" of species and Streptococcus suis, Lancefield grouping is of little value in identification of the non-beta-hemolytic streptococci and related genera. In fact, identification of the non-beta-hemolytic species is problematic for conventional as well as commercially available identification procedures. A combination of conventional tests and specific chromogenic tests suggested by several investigators is presented and discussed. Tables are included that suggest tests and procedures to guide investigators attempting to identify all the species.

  3. Gazetteer of Planetary Nomenclature: Moon: 1:1 million-scale maps of the Moon

    Data.gov (United States)

    National Aeronautics and Space Administration — The purpose of the lunar maps is to provide an up-to-date and comprehensive depiction on lunar nomenclature approved by the International Astronomical Union (IAU).

  4. Revision of the genus Cunninghamites (fossil conifers), with special reference to nomenclature, taxonomy and geological age

    NARCIS (Netherlands)

    Bosma, H.F.; Kunzmann, L.; Kvacek, J.; van Konijnenburg-van Cittert, J.H.A.|info:eu-repo/dai/nl/140562044

    2012-01-01

    The genus Cunninghamites was originally described for fossil sterile foliage. The inclusion of fertile material, and the debate about the nomenclature and taxonomy of Cunninghamites have initiated its revision. Revision has shown that only six species undoubtedly belong to Cunninghamites.

  5. 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....

  6. The order Zoantharia Rafinesque, 1815 (Cnidaria, Anthozoa: Hexacorallia): supraspecific classification and nomenclature

    Science.gov (United States)

    Low, Martyn E. Y.; Sinniger, Frederic; Reimer, James Davis

    2016-01-01

    Abstract Many supraspecific zoantharian names have long and complicated histories. The present list is provided to advise researchers on the current state of supraspecific nomenclature of the zoantharians, particularly given the recent attention paid to the taxonomy, phylogeny, and biodiversity of this order. At the same time, several taxonomic issues brought to light by recent research are resolved. Details on the taxonomic and nomenclatural history of most groups are provided, along with appendices of invalid supraspecific names. PMID:28138291

  7. 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.

  8. The impact of SLCO1B1 genetic polymorphisms on neonatal hyperbilirubinemia: a systematic review with meta-analysis.

    Science.gov (United States)

    Liu, Jiebo; Long, Jun; Zhang, Shaofang; Fang, Xiaoyan; Luo, Yuyuan

    2013-01-01

    To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia. The China National Knowledge Infrastructure and MEDLINE databases were searched. The systematic review with meta-analysis included genetic studies which assessed the association between neonatal hyperbilirubinemia and 388 G>A, 521 T>C, and 463 C>A variants of SLCO1B1 between January of 1980 and December of 2012. Data selection and extraction were performed independently by two reviewers. Ten articles were included in the study. The results revealed that SLCO1B1 388 G>A is associated with an increased risk of neonatal hyperbilirubinemia (OR, 1.39; 95% CI, 1.07-1.82) in Chinese neonates, but not in white, Thai, Latin American, or Malaysian neonates. The SLCO1B1 521 T>C mutation showed a low risk of neonatal hyperbilirubinemia in Chinese neonates, while no significant associations were found in Brazilian, white, Asian, Thai, and Malaysian neonates. There were no significant differences in SLCO1B1 463 C>A between the hyperbilirubinemia and the control group. This study demonstrated that the 388 G>A mutation of the SLCO1B1 gene is a risk factor for developing neonatal hyperbilirubinemia in Chinese neonates, but not in white, Thai, Brazilian, or Malaysian populations; the SLCO1B1 521 T>C mutation provides protection for neonatal hyperbilirubinemia in Chinese neonates, but not in white, Thai, Brazilian, or Malaysian populations. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  9. 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

  10. Is there a duty to recontact in light of new genetic technologies? : A systematic review of the literature

    NARCIS (Netherlands)

    Otten, Ellen; Plantinga, Mirjam; Birnie, Erwin; Verkerk, Marian A.; Lucassen, Anneke M.; Ranchor, Adelita V.; Van Langen, Irene M.

    Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such

  11. 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.

  12. Systematic investigation of contribution of genetic variation in the HLA-DP region to cervical cancer susceptibility.

    Science.gov (United States)

    Chen, Dan; Gyllensten, Ulf

    2014-08-01

    Compared with the other human leukocyte antigen (HLA) genes, few studies have evaluated the role of HLA-DP genes in cervical cancer pathogenesis. A recent genome-wide association study (GWAS) in the Swedish population has identified a susceptibility locus for cervical cancer within the HLA-DP region. To further study this locus, we imputed classic HLA alleles using single-nucleotide polymorphism (SNP) data and analysed 449 genotyped and 3066 imputed SNPs in 1034 cervical cancer patients and 3948 controls. We confirmed that the strongest signal came from a SNP located at HLA-DPB2 [rs3117027, odds ratio (OR) = 1.29, 95% confidence interval (CI) = 1.16-1.43, P = 1.9 × 10(-6) for A allele] and that this effect is not driven by associations with classic HLA alleles. In silico analysis further revealed that this SNP is highly correlated with rs3129294 (D' = 1, r(2) = 0.95 in controls), which may have a putative regulatory function. We also identified an independent association at DPB1*0402, which conferred decreased risk of cervical cancer (OR = 0.75, 95% CI = 0.63-0.89, P = 7.0 × 10(-4)) and is independent of previously described associations with HLA-B*0702, DRB1*1501-DQB1*0602, and DRB1*1301-DQA1*0103-DQB1*0603. No association was found with the two SNPs (rs4282438 or rs9277952) that were recently identified within the HLA-DP region in a cervical cancer GWAS in the Chinese population. Our study provides the first systematic investigation of the association of genetic variants in the HLA-DP region with cervical cancer susceptibility and provides further insight into the contribution of polymorphisms in the HLA-DP region to risk of cervical cancer. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Information on the changes in the revised anatomical nomenclature of the lower limb veins.

    Science.gov (United States)

    Kachlik, David; Pechacek, Vaclav; Musil, Vladimir; Baca, Vaclav

    2010-03-01

    Two consensus documents have appeared which revised the anatomical nomenclature of the venous system of the lower extremity. They changed and substantially extended the last valid version of the Latin anatomical nomenclature, Terminologia Anatomica, published by the Federative Committee on Anatomical Terminology, with approval of the International Federation of Associations of Anatomists, in 1998. The clinicians felt the need to adjust the terminology in order to better serve their purposes and to serve as a relevant theoretical base for correct diagnostic and appropriate treatment. First a consensus was made to expand and complete the nomenclature of the lower limb venous system during the 14th World Congress of the International Union of Phlebology in 2001. Another consensus was made again three years later, during 21st World Congress of the International Union of Angiology, under the auspices of Federative Committee on Anatomical Terminology and International Federation of Associations of Anatomists. The articles were compiled with the emphasis on the Latin terminology. Review of the original articles concerning the arrangement, variability and different nomenclature was performed thoroughly. The both documents comprise 89 terms of the veins of the lower extremity in both Latin and English. The clinicians, anatomists, and university teachers should follow the new extended anatomical nomenclature of the lower limb veins. The precise anatomical terminology can serve for diagnostic, treatment, and scientific purposes not only in the anatomy and angiology.

  14. 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.

  15. Neuropathic pain phenotyping by international consensus (NeuroPPIC) for genetic studies: a NeuPSIG systematic review, Delphi survey, and expert panel recommendations.

    Science.gov (United States)

    van Hecke, Oliver; Kamerman, Peter R; Attal, Nadine; Baron, Ralf; Bjornsdottir, Gyda; Bennett, David L H; Bennett, Michael I; Bouhassira, Didier; Diatchenko, Luda; Freeman, Roy; Freynhagen, Rainer; Haanpää, Maija; Jensen, Troels S; Raja, Srinivasa N; Rice, Andrew S C; Seltzer, Zeʼev; Thorgeirsson, Thorgeir E; Yarnitsky, David; Smith, Blair H

    2015-11-01

    For genetic research to contribute more fully to furthering our knowledge of neuropathic pain, we require an agreed, valid, and feasible approach to phenotyping, to allow collaboration and replication in samples of sufficient size. Results from genetic studies on neuropathic pain have been inconsistent and have met with replication difficulties, in part because of differences in phenotypes used for case ascertainment. Because there is no consensus on the nature of these phenotypes, nor on the methods of collecting them, this study aimed to provide guidelines on collecting and reporting phenotypes in cases and controls for genetic studies. Consensus was achieved through a staged approach: (1) systematic literature review to identify all neuropathic pain phenotypes used in previous genetic studies; (2) Delphi survey to identify the most useful neuropathic pain phenotypes and their validity and feasibility; and (3) meeting of experts to reach consensus on the optimal phenotype(s) to be collected from patients with neuropathic pain for genetic studies. A basic "entry level" set of phenotypes was identified for any genetic study of neuropathic pain. This set identifies cases of "possible" neuropathic pain, and controls, and includes: (1) a validated symptom-based questionnaire to determine whether any pain is likely to be neuropathic; (2) body chart or checklist to identify whether the area of pain distribution is neuroanatomically logical; and (3) details of pain history (intensity, duration, any formal diagnosis). This NeuroPPIC "entry level" set of phenotypes can be expanded by more extensive and specific measures, as determined by scientific requirements and resource availability.

  16. 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

  17. An Unambiguous Nomenclature for the Acyl-quinic Acids Commonly Known as Chlorogenic Acids.

    Science.gov (United States)

    Abrankó, László; Clifford, Michael N

    2017-05-10

    The history of the acyl-quinic acids is briefly reviewed, the merits and limitations of the various nomenclature systems applicable are critically compared, and their limitations are highlighted, in particular their inability to provide an unambiguous description of all quinic acid enantiomers and diastereoisomers and associated acyl-quinic acids. Recommendations are made for a nomenclature system that in combination with IUPAC numbering achieves this objective. A comprehensive set of structures for the quinic acid enantiomers and diastereoisomers is presented. The Supporting Information provides an explanation of trivial names and a decision tree to determine which quinic acid isomer a structure represents.

  18. [Nomenclature and classification of complications. Standard procedure at the Heidelberg University Orthopedic Clinic].

    Science.gov (United States)

    Krämer, K L; Clauss, M

    1999-03-01

    In order to get a better data management of complications in orthopedic surgery and in order to get comparable statistics a standardisation of nomenclature and classification of complications is demanded since 1.1.1997. The Orthopedic University Clinic of Heidelberg started with a register of all early complications of all inpatients. According to a standardized nomenclature all occurred complications the doctors put in the data of complications in a database. These data were controlled, complemented and classified by members of the quality management group. This guideline consists of five parts: catalogue of diagnoses, general and special definitions, classification and an allocation table of diagnoses to grades of severity.

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

    Directory of Open Access Journals (Sweden)

    Katie E. J. Hann

    2017-05-01

    Full Text Available Abstract Background 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. Methods 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. Results 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. Conclusion 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

  20. 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

  1. 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.

  2. 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

  3. Systematic Complex Haploinsufficiency-Based Genetic Analysis of Candida albicans Transcription Factors: Tools and Applications to Virulence-Associated Phenotypes.

    Science.gov (United States)

    Glazier, Virginia E; Murante, Thomas; Koselny, Kristy; Murante, Daniel; Esqueda, Marisol; Wall, Gina A; Wellington, Melanie; Hung, Chiung-Yu; Kumar, Anuj; Krysan, Damian J

    2018-03-28

    Genetic interaction analysis is a powerful approach to the study of complex biological processes that are dependent on multiple genes. Because of the largely diploid nature of the human fungal pathogen Candida albicans , genetic interaction analysis has been limited to a small number of large-scale screens and a handful for gene-by-gene studies. Complex haploinsufficiency, which occurs when a strain containing two heterozygous mutations at distinct loci shows a phenotype that is distinct from either of the corresponding single heterozygous mutants, is an expedient approach to genetic interactions analysis in diploid organisms. Here, we describe the construction of a barcoded-library of 133 heterozygous TF deletion mutants and deletion cassettes for designed to facilitate complex haploinsufficiency-based genetic interaction studies of the TF networks in C. albicans We have characterized the phenotypes of these heterozygous mutants under a broad range of in vitro conditions using both agar-plate and pooled signature tag-based assays. Consistent with previous studies, haploinsufficiency is relative uncommon. In contrast, a set of 12 TFs enriched in mutants with a role in adhesion were found to have altered competitive fitness at early time points in a murine model of disseminated candidiasis. Finally, we characterized the genetic interactions of a set of biofilm related TFs in the first two steps of biofilm formation, adherence and filamentation of adherent cells. The genetic interaction networks at each stage of biofilm formation are significantly different indicating that the network is not static but dynamic. Copyright © 2018 Glazier et al.

  4. 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.

  5. 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).

  6. La nomenclature au service de la Botanique Systématique

    NARCIS (Netherlands)

    Robyns, W.

    1966-01-01

    La systématique scientifique, qui classe tous les êtres vivants, actuels et fossiles, d’après leurs affinités naturelles ou présumées telles, doit pouvoir donner à chaque taxon un nom stable, permettant de le désigner avec son rang taxonomique et de l’identifier facilement. La nomenclature botanique

  7. 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

  8. Nomenclature of the Cyanophyta/Cyanoprokaryotes – what has happened since IAC Luxembourg?

    Czech Academy of Sciences Publication Activity Database

    Oren, A.; Komárek, Jiří; Hoffmann, L.

    2009-01-01

    Roč. 130, č. 1 (2009), s. 17-26 ISSN 1864-1318. [Symposium of the International Association for Cyanophyte Research /17./. Mérida, Yukatán, 25.6.2007-26.6.2007] Institutional research plan: CEZ:AV0Z60050516 Keywords : cyanobacteria * nomenclature * nomenclatorix codes Subject RIV: EF - Botanics

  9. 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

  10. 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

  11. 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…

  12. 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

  13. 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…

  14. Grammatical objections to the International Rules of Botanical Nomenclature, adopted at Cambridge in 1930

    NARCIS (Netherlands)

    Danser, B.H.

    1935-01-01

    It is generally known that botanical nomenclature, though sprung from mediaeval scientific Latin, and agreeing, in its orthography for the greater part, in its grammar as much as possible, with classical Latin, shows countless forms which not only from a classical-grammatical, but also from a

  15. 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

  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. 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...

  18. Terminology and nomenclature for macromolecular rotaxanes and pseudorotaxanes (IUPAC Recommendations 2012)

    Czech Academy of Sciences Publication Activity Database

    Vohlídal, J.; Wilks, E. S.; Yerin, A.; Fradet, A.; Hellwich, K. H.; Hodge, P.; Kahovec, Jaroslav; Mormann, W.; Stepto, R. F. T.

    2012-01-01

    Roč. 84, č. 10 (2012), s. 2135-2165 ISSN 0033-4545 Institutional research plan: CEZ:AV0Z40500505 Keywords : IUPAC Chemical Nomenclature and Structure Representation Division * macromolecular pseudorotaxanes * macromolecular rotaxanes Subject RIV: CD - Macromolecular Chemistry Impact factor: 3.386, year: 2012

  19. 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

  20. Recent developments in the nomenclature, presence, isolation, detection and clinical impact of extracellular vesicles

    NARCIS (Netherlands)

    van der Pol, E.; Böing, A. N.; Gool, E. L.; Nieuwland, R.

    2016-01-01

    The research field of extracellular vesicles (EVs), such as microparticles and exosomes, is growing exponentially. The goal of this review is to provide an overview of recent developments relevant to the readers of the Journal of Thrombosis and Haemostasis. We will discuss nomenclature, the presence

  1. Nomenclatural analysis of validity of Taraxacum names published by J. L. van Soest after 1958

    Czech Academy of Sciences Publication Activity Database

    Kirschner, Jan; Štěpánek, Jan

    2014-01-01

    Roč. 158, č. 2 (2014), s. 169-181 ISSN 1179-3155 R&D Projects: GA ČR GA13-13368S Institutional support: RVO:67985939 Keywords : Taraxacum * nomenclature * Asia Subject RIV: EF - Botanics Impact factor: 1.318, year: 2014

  2. 76 FR 53909 - Draft Guidance for Industry on Tablet Scoring: Nomenclature, Labeling, and Data for Evaluation...

    Science.gov (United States)

    2011-08-30

    ..., disintegration, or dissolution, which can affect how much drug is present in a split tablet and available for...] 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...

  3. 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...

  4. 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

  5. miRNA Nomenclature : A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants

    NARCIS (Netherlands)

    Desvignes, T.; Batzel, P.; Berezikov, E.; Eilbeck, K.; Eppig, J. T.; McAndrews, M. S.; Singer, A.; Postlethwait, J. H.

    2015-01-01

    High-throughput sequencing of miRNAs has revealed the diversity and variability of mature and functional short noncoding RNAs, including their genomic origins, biogenesis pathways, sequence variability, and newly identified products such as miRNA-offset RNAs (moRs). Here we review known cases of

  6. 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

  7. 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.

  8. 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.

  9. Association of GST genetic polymorphisms with the susceptibility to hepatocellular carcinoma (HCC in Chinese population evaluated by an updated systematic meta-analysis.

    Directory of Open Access Journals (Sweden)

    Kui Liu

    Full Text Available BACKGROUND: Due to the possible involvement of Glutathione S-transferase Mu-1 (GSTM1 and Glutathione S-transferase theta-1 (GSTT1 in the detoxification of environmental carcinogens, environmental toxins, and oxidative stress products, genetic polymorphisms of these two genes may play important roles in the susceptibility of human being to hepatocellular carcinoma. However, the existing research results are not conclusive. METHODS: A systematic literature search using databases (PubMed, Scopus, Embase, Chinese Biomedical Database, Chinese National Knowledge Infrastructure, Wanfang Data, etc. for the eligible studies meeting the inclusion criteria including case-control studies or cohort studies is evaluated using an updated systematic meta-analysis. RESULTS: Significant increase in the risk of HCC in the Chinese population is found in GSTM1 null genotype (OR = 1.47, 95% CI: 1.21 to 1.79, P<0.001 and GSTT1 null genotype (OR = 1.38, 95% CI: 1.14 to 1.65, P<0.001. Analysis using the random-effects model found an increased risk of HCC in GSTM1-GSTT1 dual null population (OR = 1.79, 95% CI: 1.26 to 2.53, P<0.001. In addition, subgroup analyses showed a significant increase in the association of GST genetic polymorphisms (GSTM1, GSTT1, and GSTM1-GSTT1 with HCC in southeast and central China mainland. However, available data collected by this study fail to show an association between GST genetic polymorphisms and HCC in people from the Taiwan region (for GSTM1: OR = 0.78, 95% CI: 0.60 to 1.01, P = 0.06; for GSTT1: OR = 0.94, 95% CI: 0.78 to 1.14, P = 0.546; for GSTM1-GSTT1: OR = 1.04, 95% CI: 0.81 to 1.32, P = 0.77. Sensitivity analysis and publication bias diagnostics confirmed the reliability and stability of this meta-analysis. CONCLUSIONS: Our results indicate that both GSTM1 and GSTT1 null genotypes are associated with an increased HCC risk in Chinese population. Peoples with dual null genotypes of GSTM1-GSTT1

  10. Relationship and genetic diversity of mistletoe (Viscum album L. subspecies

    Directory of Open Access Journals (Sweden)

    Leon Mejnartowicz

    2011-01-01

    Full Text Available With the help of 21 putative isoenzyme loci, the genetic diversity and variations of Viscum album ssp. album L. from 42 species, subspecies, varieties and hybrids of broadleaf trees, Viscum album ssp. austriacum (Wiesb. Vollmann, from 4 populations of Scots pine (Pinus sylvestris L. and Viscum album ssp. abietis (Wiesb. Abromeit, from 8 populations of European silver fir (Abies alba Mill. were analyzed. On the dendrogram, the three investigated subspecies form three clusters, each clearly separated from the other, so we suggest a revision of the systematic nomenclature proposed to take into consideration a return to an earlier system of dividing the European mistletoe into three species: Viscum album L., Viscum abietis Beck, and Viscum laxum Boiss. et Reut. From among the 21 tested loci only one locus, SOD-A, was monomorphic. The average number of actual alleles (Na and effective alleles (Ne was 2.23 and 1.61 respectively. The observed heterozygosity (Ho varied from 0.199 in V. album ssp. abietis to 0.345 in the V.a. ssp. album populations. Average FST = 0.277 indicates that about 28% of genetic differentiation is due to an interpopulation diversity of Viscum album populations. There is a small gene flux between Viscum album populations with only one immigrant successfully entering a population per two generations (Nm = 0,653.

  11. A new earwig of the genusEchinosomafrom Penang Island, Peninsular Malaysia, with notes on the taxonomic and nomenclatural problems of the genusCranopygia(Insecta, Dermaptera, Pygidicranidae).

    Science.gov (United States)

    Kamimura, Yoshitaka; Nishikawa, Masaru; Lee, Chow-Yang

    2016-01-01

    The pygidicranid earwigs (Dermaptera) of Penang Island, Peninsular Malaysia were re-examined based on material collected in extensive field surveys in 2012-2013 and 2015. Echinosoma roseiventre Kamimura & Nishikawa, sp. n. is described and illustrated, and Cranopygia pallidipennis (de Haan, 1842) is reported from the island for the first time. The taxonomic and nomenclatural problems of the genus Cranopygia sensu Hincks (1959) [A Systematic Monograph of the Dermaptera of the World. Part II. Pygidicranidae excluding Diplatyinae. British Museum (Natural History)] are also discussed. For the members of the subfamily Pygidicraninae from Indo-Austral and Oriental regions, the system, definitions of genera, and key of Hincks (1959) are followed. The genus Mucrocranopygia Steinmann, 1986 is synonymized with Cranopygia Burr, 1908. A key to the males of small Echinosoma from the Oriental region is provided.

  12. A new earwig of the genus Echinosoma from Penang Island, Peninsular Malaysia, with notes on the taxonomic and nomenclatural problems of the genus Cranopygia (Insecta, Dermaptera, Pygidicranidae

    Directory of Open Access Journals (Sweden)

    Yoshitaka Kamimura

    2016-11-01

    Full Text Available The pygidicranid earwigs (Dermaptera of Penang Island, Peninsular Malaysia were re-examined based on material collected in extensive field surveys in 2012–2013 and 2015. Echinosoma roseiventre Kamimura & Nishikawa, sp. n. is described and illustrated, and Cranopygia pallidipennis (de Haan, 1842 is reported from the island for the first time. The taxonomic and nomenclatural problems of the genus Cranopygia sensu Hincks (1959 [A Systematic Monograph of the Dermaptera of the World. Part II. Pygidicranidae excluding Diplatyinae. British Museum (Natural History] are also discussed. For the members of the subfamily Pygidicraninae from Indo-Austral and Oriental regions, the system, definitions of genera, and key of Hincks (1959 are followed. The genus Mucrocranopygia Steinmann, 1986 is synonymized with Cranopygia Burr, 1908. A key to the males of small Echinosoma from the Oriental region is provided.

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. One Fungus = One Name: DNA and fungal nomenclature twenty years after PCR.

    Science.gov (United States)

    Taylor, John W

    2011-12-01

    Some fungi with pleomorphic life-cycles still bear two names despite more than 20 years of molecular phylogenetics that have shown how to merge the two systems of classification, the asexual "Deuteromycota" and the sexual "Eumycota". Mycologists have begun to flout nomenclatorial regulations and use just one name for one fungus. The International Code of Botanical Nomenclature (ICBN) must change to accommodate current practice or become irrelevant. The fundamental difference in the size of fungi and plants had a role in the origin of dual nomenclature and continues to hinder the development of an ICBN that fully accommodates microscopic fungi. A nomenclatorial crisis also looms due to environmental sequencing, which suggests that most fungi will have to be named without a physical specimen. Mycology may need to break from the ICBN and create a MycoCode to account for fungi known only from environmental nucleic acid sequence (i.e. ENAS fungi).

  18. The Working Group on Meteor Showers Nomenclature: a History, Current Status and a Call for Contributions

    Science.gov (United States)

    Jopek, T. J.; Jenniskens, P. M.

    2011-01-01

    During the IAU General Assembly in Rio de Janeiro in 2009, the members of Commission 22 established the Working Group on Meteor Shower Nomenclature, from what was formerly the Task Group on Meteor Shower Nomenclature. The Task Group had completed its mission to propose a first list of established meteor showers that could receive officially names. At the business meeting of Commission 22 the list of 64 established showers was approved and consequently officially accepted by the IAU. A two-step process is adopted for showers to receive an official name from the IAU: i) before publication, all new showers discussed in the literature are first added to the Working List of Meteor Showers, thereby receiving a unique name, IAU number and three-letter code; ii) all showers which come up to the verification criterion are selected for inclusion in the List of Established Meteor Showers, before being officially named at the next IAU General Assembly.

  19. Nomenclature of the veins of the lower limb: extensions, refinements, and clinical application.

    Science.gov (United States)

    Caggiati, Alberto; Bergan, John J; Gloviczki, Peter; Eklof, Bo; Allegra, Claudio; Partsch, Hugo

    2005-04-01

    The relative deficiency of the official Terminologia Anatomica with regard to the veins of the lower limbs was responsible for a nonuniform anatomic nomenclature in the clinical literature. In 2001, an International Interdisciplinary Committee updated and refined the official Terminologia Anatomica regarding the veins of the lower limbs. Recommendations for terminology were included in an updating document that appeared in the Journal of Vascular Surgery (2002;36:416-22). To enhance further the use of a common scientific language, the committee worked on the present document, which includes (1) extensions and refinements regarding the veins of the lower limbs; (2) the nomenclature of the venous system of the pelvis; (3) the use of eponyms; and (4) the use of terms and adjectives of particular importance in clinical vascular anatomy.

  20. Contribution to the anatomical nomenclature concerning general anatomy and anatomical variations.

    Science.gov (United States)

    Kachlik, David; Musil, Vladimir; Baca, Vaclav

    2016-09-01

    Nomenclature of the general and variant anatomy belongs to the most neglected parts of the Latin anatomical nomenclature in Terminologia Anatomica. Although many important small structures are included in Terminologia Anatomica, when describing and teaching particular anatomy of any part of the human body, the general terms are necessary, such as planes, lines and flexion grooves. Moreover, Terminologia Anatomica contains only 149 terms of variant structures, enlisted in the parentheses to differentiate them from constant ones. They are only a rather representative selection and some more should be added, both from the educational and clinical point of view. The authors present some terms, completed with their definitions or explanations concerning the general and variant anatomy to evoke broader discussion on this topic which should issue in incorporation of proposed terms (or their equivalents) into the Terminologia Anatomica.

  1. A plea for an extension of the anatomical nomenclature: The locomotor system

    Directory of Open Access Journals (Sweden)

    Vladimir Musil

    2017-11-01

    Full Text Available Anatomical nomenclature is the main tool of communication in morphology, anatomy and other medical disciplines as well as in medical education, and thus needs to be exact, flawless, elaborate and correct. The Terminologia Anatomica (TA is a thorough and extensive list of anatomical terms and their definitions, and the current standard for human anatomical terminology. Although several revisions to the TA have been made in the last 20 years, some important anatomical structures are still not included. This article is aimed at correcting and extending the anatomical nomenclature described in the TA. We gathered and presented a list of anatomical terms, with their definitions and explanations, to provoke a discussion about correcting and extending the TA. Our list comprises of 96 terms related to the locomotor system of the human body, i.e., the bones, joints, muscles and related structures.

  2. A plea for an extension of the anatomical nomenclature: The locomotor system.

    Science.gov (United States)

    Musil, Vladimir; Blankova, Alzbeta; Baca, Vaclav

    2017-11-16

    Anatomical nomenclature is the main tool of communication in morphology, anatomy and other medical disciplines as well as in medical education, and thus needs to be exact, flawless, elaborate and correct. The Terminologia Anatomica (TA) is a thorough and extensive list of anatomical terms and their definitions, and the current standard for human anatomical terminology. Although several revisions to the TA have been made in the last 20 years, some important anatomical structures are still not included. This article is aimed at correcting and extending the anatomical nomenclature described in the TA. We gathered and presented a list of anatomical terms, with their definitions and explanations, to provoke a discussion about correcting and extending the TA. Our list comprises of 96 terms related to the locomotor system of the human body, i.e., the bones, joints, muscles and related structures.

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

    Science.gov (United States)

    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

    2018-03-01

    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. As we provide molecularly oriented definitions of terms including intrinsic apoptosis, extrinsic apoptosis, mitochondrial permeability transition (MPT)-driven necrosis, necroptosis, ferroptosis, pyroptosis, parthanatos, entotic cell death, NETotic cell death, lysosome-dependent cell death, autophagy-dependent cell death, immunogenic cell death, cellular senescence, and mitotic catastrophe, we discuss the utility of neologisms that refer to highly specialized instances of these processes. The mission of the NCCD is to provide a widely accepted nomenclature on cell death in support of the continued development of the field.

  4. One Fungus = One Name: DNA and fungal nomenclature twenty years after PCR

    OpenAIRE

    Taylor, John W.

    2011-01-01

    Some fungi with pleomorphic life-cycles still bear two names despite more than 20 years of molecular phylogenetics that have shown how to merge the two systems of classification, the asexual “Deuteromycota” and the sexual “Eumycota”. Mycologists have begun to flout nomenclatorial regulations and use just one name for one fungus. The International Code of Botanical Nomenclature (ICBN) must change to accommodate current practice or become irrelevant. The fundamental difference in the size of fu...

  5. 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.

  6. 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...

  7. How really extensive is the original material of Juncus kochii (Juncaceae? - A taxonomic and nomenclatural revision

    Directory of Open Access Journals (Sweden)

    Jarosław Proćków

    2011-01-01

    Full Text Available The identity of the original material of Juncus kochii F. W. Schultz (Juncaceae is discussed. The taxon at present is best regarded as Juncus bulbosus L. subsp. kochii (F. W. Schultz Reichg. The relevant literature (protologue and references therein was searched and details of all original elements were compiled. Nomenclatural and taxonomic remarks are given. Juncus welwitschii Hochst. ex Steud. is here excluded as a synonym of Juncus bulbosus subsp. kochii.

  8. Toward a More Evidence-Based Nosology and Nomenclature for Female Sexual Dysfunctions—Part II

    DEFF Research Database (Denmark)

    Parish, Sharon J; Goldstein, Andrew T; Goldstein, Sue W

    2016-01-01

    INTRODUCTION: Current Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) definitions of sexual dysfunction do not identify all sexual problems experienced clinically by women and are not necessarily applicable for biologic or biopsychosocial management of female sexual...... stakeholder societies participating in the consensus meeting. RESULTS: Current DSM-5 definitions, in particular elimination of desire and arousal disorders as separate diagnoses and lack of definitions of other specific disorders, were adapted to create ISSWSH consensus nomenclature for distressing sexual...

  9. 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.

  10. 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

    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...... (ERA). The current regulatory system is hampered by insufficiently developed methods for GM crop safety testing and introduction studies. Improvement to the regulatory system needs to address the lack of well designed GM crop monitoring frameworks, professional and financial conflicts of interest...... within the ERA research and testing community, weaknesses in consideration of stakeholder interests and specific regional conditions, and the lack of comprehensive assessments that address the environmental and socio-economic risk assessment interface. To address these challenges, we propose a European...

  11. Genetic Polymorphisms Might Predict Suicide Attempts in Mental Disorder Patients: A Systematic Review And Meta-Analysis.

    Science.gov (United States)

    de Medeiros Alves, Veronica; Bezerra, Daniele Goncalves; de Andrade, Tiago Gomes; de Melo Neto, Valfrido Leao; Nardi, Antonio E

    2015-01-01

    The aim of the present study was to analyze if the genetic polymorphisms might predict suicide attempts in mental disorder patients. The literature review and meta-analysis were conducted using the PubMed/Medline, Web of science and Scopus database using the terms: "5-HTT or SLC6A4 or 5-SERT and suicide, suicidal ideation or suicidal behavior or suicidal attempt". Thirty articles were analyzed. We found 17 articles that showed association and 13 articles that showed no association between LPR serotonin transporter polymorphism and suicide. A higher study of suicide identified the serotonin transporter polymorphism in patients with schizophrenia, mental disorder, major depression and bipolar disorder. There is an association between the serotonin-transporter-linked polymorphic region and suicidal behavior. The mental disorders with greater relationship with the suicide were the bipolar disorder, major depression and schizophrenia. The L allele had higher risk for suicide.

  12. 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

  13. Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature.

    Science.gov (United States)

    Black, William J; Stagos, Dimitrios; Marchitti, Satori A; Nebert, Daniel W; Tipton, Keith F; Bairoch, Amos; Vasiliou, Vasilis

    2009-11-01

    The human aldehyde dehydrogenase (ALDH) gene superfamily consists of 19 genes encoding enzymes critical for NAD(P)-dependent oxidation of endogenous and exogenous aldehydes, including drugs and environmental toxicants. Mutations in ALDH genes are the molecular basis of several disease states (e.g. Sjögren-Larsson syndrome, pyridoxine-dependent seizures, and type II hyperprolinemia) and may contribute to the etiology of complex diseases such as cancer and Alzheimer's disease. The aim of this nomenclature update was to identify splice transcriptional variants principally for the human ALDH genes. Data-mining methods were used to retrieve all human ALDH sequences. Alternatively spliced transcriptional variants were determined based on (i) criteria for sequence integrity and genomic alignment; (ii) evidence of multiple independent cDNA sequences corresponding to a variant sequence; and (iii) if available, empirical evidence of variants from the literature. Alternatively spliced transcriptional variants and their encoded proteins exist for most of the human ALDH genes; however, their function and significance remain to be established. When compared with the human genome, rat and mouse include an additional gene, Aldh1a7, in the ALDH1A subfamily. To avoid confusion when identifying splice variants in various genomes, nomenclature guidelines for the naming of such alternative transcriptional variants and proteins are recommended herein. In addition, a web database (www.aldh.org) has been developed to provide up-to-date information and nomenclature guidelines for the ALDH superfamily.

  14. Naming 'junk': Human non-protein coding RNA (ncRNA gene nomenclature

    Directory of Open Access Journals (Sweden)

    Wright Mathew W

    2011-01-01

    Full Text Available Abstract Previously, the majority of the human genome was thought to be 'junk' DNA with no functional purpose. Over the past decade, the field of RNA research has rapidly expanded, with a concomitant increase in the number of non-protein coding RNA (ncRNA genes identified in this 'junk'. Many of the encoded ncRNAs have already been shown to be essential for a variety of vital functions, and this wealth of annotated human ncRNAs requires standardised naming in order to aid effective communication. The HUGO Gene Nomenclature Committee (HGNC is the only organisation authorised to assign standardised nomenclature to human genes. Of the 30,000 approved gene symbols currently listed in the HGNC database (http://www.genenames.org/search, the majority represent protein-coding genes; however, they also include pseudogenes, phenotypic loci and some genomic features. In recent years the list has also increased to include almost 3,000 named human ncRNA genes. HGNC is actively engaging with the RNA research community in order to provide unique symbols and names for each sequence that encodes an ncRNA. Most of the classical small ncRNA genes have now been provided with a unique nomenclature, and work on naming the long (> 200 nucleotides non-coding RNAs (lncRNAs is ongoing.

  15. 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.

  16. 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.

  17. Ethnic Differences in Genetic Ion Channelopathies Associated with Sudden Cardiac Death: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Kong, Tim; Feulefack, Joseph; Ruether, Kim; Shen, Fan; Zheng, Wang; Chen, Xing-Zhen; Sergi, Consolato

    2017-08-01

    Reports of allele frequencies encoding ion channel, or their interacting proteins associated with sudden cardiac death among different ethnic groups have been inconsistent. Here, we aimed to characterize the distribution of these genes and their alleles among various ethnicities through meta-analysis. We conducted a systematic review and meta-analysis to assess the mean allele frequencies of channelopathy genes SCN5A, NOS1AP, KCNH2, KCNE1 , and KCNQ1 among the Black, Caucasian, Asian, and Hispanic ethnicities. Searches in PubMed, Google Scholar, and Web of Science resulted in 18 reports published before July 2015 that met the eligible criteria. Allele frequencies were averaged by weight, and pooled values were calculated by inverse variance. Fixed-effects and random-effects models were used to pool effect sizes within each study and across different studies, respectively. Moreover, to extend our findings, we used sequenced genomic data from the Exome Aggregation Consortium to compare allele frequencies between different ethnicities. Meta-analysis of published studies supports that Asians had the highest overall mean allele frequencies of NOS1AP (0.36%, 95% CI: 0.30, 0.43; P <0.001), and SCN5A frequencies (0.17%, 95% CI: 0.07, 0.27, P =0.001), and whereas Caucasians had the highest KCNH2 frequency (0.21%, 95% CI: 0.16, 0.25; P <0.001), and Hispanics the highest KCNQ1 frequency (0.16%). Analysis of the Exome Aggregation Consortium also provided consistent data in agreement the meta-analysis. Overall, Asians carried the most alleles of genes associated with sudden cardiac death. The meta-analysis reveals significant differences in allele distribution of channelopathy-associated genes among different ethnic groups. © 2017 by the Association of Clinical Scientists, Inc.

  18. Is the atopic march related to confounding by genetics and early-life environment? A systematic review of sibship and twin data.

    Science.gov (United States)

    Khan, S J; Dharmage, S C; Matheson, M C; Gurrin, L C

    2018-01-01

    A popular hypothesis known as the atopic march proposes a set of sequential allergy and respiratory disorders in early childhood contributes enormously to the burden of disease in developed countries. Although the concept of the atopic march has been refined and strengthened by many cross-sectional and longitudinal studies linking eczema as the initial manifestation with progression to hay fever and then asthma, there is yet no definitive proof that the atopic march is the primary causal factor in childhood allergic disease. This debate is mainly related to the controversy around potential confounding of these associations by genetic and environmental factors. Family studies are ideally suited to unravelling the role of these factors. While multiple reviews have synthesized evidence from studies investigating this question, no review to date has explored specific evidence generated by twin and sibling studies to understand the aetiology of atopic march diseases. Our aim was to conduct a systematic review of twin and sibling studies that examine the allergic phenotypes that form the atopic march, to determine whether such analyses of data from these studies attempt to control for the effect confounding by shared factors, and to report estimates of the magnitude of associations between multiple phenotypes. Our review suggests that (1) genetics play a bigger role predisposing eczema to hay fever and eczema to asthma than environmental factors, and (2) the link between eczema and asthma and hay fever is independent of shared early-life environmental factors. © 2017 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.

  19. A few problems in the generic nomenclature of insects and amphibians, with recommendations for the publication of new generic nomina in zootaxonomy and comments on taxonomic and nomenclatural databases and websites.

    Science.gov (United States)

    Dubois, Alain

    2017-02-26

    Dahanukar et al. (2016a) proposed the nomen Walkerana for a new genus of amphibians, but shortly after (2016b) they replaced it by the new nomen Sallywalkerana, believing that their nomen Walkerana was preoccupied by a generic nomen of orthopterans. This was unjustified because the orthopteran nomen 'Walkerella' Otte & Perez-Gelabert, 2009a and its new replacement nomen 'Walkerana' Otte & Perez-Gelabert, 2009b were both nomina nuda. These recent examples of nomenclatural errors in generic nomenclature are just a few among many in recent zootaxonomic publications. This opportunity is taken to make some general methodological recommendations, in several domains (availability, homonymy, synonymy, neonymy, length and palatability of nomina), for the publication of new generic nomina in zootaxonomy. However, the absence of a comprehensive database and website providing all the relevant information necessary to establish the nomenclatural status of all zoological generic and subgeneric nomina is a brake on the efforts that can be made to avoid nomenclatural errors in zoological generic nomenclature. The international community of taxonomists should seek at establishing such a database and website.

  20. A history of the taxonomy and systematics of arbuscular mycorrhizal fungi belonging to the phylum Glomeromycota.

    Science.gov (United States)

    Stürmer, Sidney Luiz

    2012-05-01

    Arbuscular mycorrhizal fungi (AMF) are grouped in a monophyletic group, the phylum Glomeromycota. In this review, the history and complexity of the taxonomy and systematics of these obligate biotrophs is addressed by recognizing four periods. The initial discovery period (1845-1974) is characterized by description mainly of sporocarp-forming species and the proposal of a classification for these fungi. The following alpha taxonomy period (1975-1989) established a solid morphological basis for species identification and classification, resulting in a profuse description of new species and a need to standardize the nomenclature of spore subcellular structures. The cladistics period from 1990 to 2000 saw the first cladistic classification of AMF based on phenotypic characters only. At the end of this period, genetic characters played a role in defining taxa and elucidating evolutionary relationships within the group. The most recent phylogenetic synthesis period (2001 to present) started with the proposal of a new classification based on genetic characters using sequences of the multicopy rRNA genes. © Springer-Verlag 2012

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

    Directory of Open Access Journals (Sweden)

    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

  3. Global medical device nomenclature: the concept for reducing device-related medical errors.

    Science.gov (United States)

    Anand, K; Saini, Sk; Singh, Bk; Veermaram, C

    2010-10-01

    In the medical device field, there are a number of players, having quite different responsibilities and levels of understanding of the processes, but all with one common interest, that of ensuring the availability of sound medical devices to the general public. To assist in this very important process, there is a need for a common method for describing and identifying these medical devices in an unambiguous manner. The Global Medical Device Nomenclature (GMDN) now provides, for the first time, an international tool for identifying all medical devices, at the generic level, in a meaningful manner that can be understood by all users. Prior to the GMDN, many nomenclature systems existed, all built upon different structures, and used locally or nationally for special purposes, with unusual approaches. These diverse systems, although often workable in their own right, have had no impact on improving the overall situation of providing a common platform, whereby, medical devices could be correctly identified and the related data safely exchanged between the involved parties. Work by standard organizations such as, CEN (European Committee for Standardization) and ISO (International Organization for Standardization), from 1993 to 1996, resulted in a standard that specified a structure for a new nomenclature, for medical devices. In this article we are trying to explain GMDN as the prime method to reduce medical device errors, and to understand the concept of GMDN, to regulate the medical device throughout the globe. Here we also make an attempt to explain various aspects of the GMDN system, such as, the process of development of the GMDN-CEN report, purpose, benefits, and their structural considerations. In addition, there will be an explanation of the coding system, role of the GMDN agency, and their utilization in the unique device identification (UDI) System. Finally, the current area of focus and vision for the future are also mentioned.

  4. 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.

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

    Science.gov (United States)

    Wilson, Jeffrey A; D'Emic, Michael D; Ikejiri, Takehito; Moacdieh, Emile M; Whitlock, John A

    2011-02-28

    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. 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. 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 origin or phylogenetic distribution.

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    Josch K Pauling

    Full Text Available 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 430,000 potential lipid molecules from 47 lipid classes covering five lipid categories. We note that the nomenclature is generic, extendable to stable isotope-labeled lipid molecules and applicable to automated annotation of fragment ions detected by most contemporary lipidomics platforms, including LC-MS/MS-based routines.

  12. A world checklist of Onychophora (velvet worms, with notes on nomenclature and status of names

    Directory of Open Access Journals (Sweden)

    Ivo Oliveira

    2012-07-01

    Full Text Available Currently, the number of valid species of Onychophora is uncertain. To facilitate taxonomic work on this understudied animal group, we present an updated checklist for the two extant onychophoran subgroups, Peripatidae and Peripatopsidae, along with an assessment of the status of each species. According to our study, 82 species of Peripatidae and 115 species of Peripatopsidae have been described thus far. However, among these 197 species, 20 are nomina dubia due to major taxonomic inconsistencies. Apart from nomina dubia, many of the valid species also require revision, in particular representatives of Paraperipatus within the Peripatopsidae, and nearly all species of Peripatidae. In addition to extant representatives, the record of unambiguous fossils includes three species with uncertain relationship to the extant taxa. For all species, we provide a list of synonyms, information on types and type localities, as well as remarks on taxonomic and nomenclatural problems and misspellings. According to recent evidence of high endemism and cryptic speciation among the Peripatidae and Peripatopsidae, previous synonyms are revised. Putative mutations, subspecies and variations are either raised to the species status or synonymised with corresponding taxa. In our revised checklist, we follow the rules and recommendations of the International Code of Zoological Nomenclature to clarify previous inconsistencies.

  13. A world checklist of Onychophora (velvet worms), with notes on nomenclature and status of names.

    Science.gov (United States)

    Oliveira, Ivo de Sena; Read, V Morley St J; Mayer, Georg

    2012-01-01

    Currently, the number of valid species of Onychophora is uncertain. To facilitate taxonomic work on this understudied animal group, we present an updated checklist for the two extant onychophoran subgroups, Peripatidae and Peripatopsidae, along with an assessment of the status of each species. According to our study, 82 species of Peripatidae and 115 species of Peripatopsidae have been described thus far. However, among these 197 species, 20 are nomina dubia due to major taxonomic inconsistencies. Apart from nomina dubia, many of the valid species also require revision, in particular representatives of Paraperipatus within the Peripatopsidae, and nearly all species of Peripatidae. In addition to extant representatives, the record of unambiguous fossils includes three species with uncertain relationship to the extant taxa. For all species, we provide a list of synonyms, information on types and type localities, as well as remarks on taxonomic and nomenclatural problems and misspellings. According to recent evidence of high endemism and cryptic speciation among the Peripatidae and Peripatopsidae, previous synonyms are revised. Putative mutations, subspecies and variations are either raised to the species status or synonymised with corresponding taxa. In our revised checklist, we follow the rules and recommendations of the International Code of Zoological Nomenclature to clarify previous inconsistencies.

  14. 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

  15. Different nomenclatures for environmental zones with similar purposes: an issue to participatory management of Nature Conservation Units in Brazil

    OpenAIRE

    Dalila Silva Mello; Leonízia Valdeci de Mello; Maria Inês Paes Ferreira

    2012-01-01

    This study aims to propose a revision of the nomenclature for several environmental zones of Nature Conservation Units in Brazil. The purpose is based on a comparative study of typologies of environmental zones that are suggested in methodological scripts of plans of Nature Conservation Units, published by IBAMA (Brazilian Institute of Environment and Renewable Natural Resources), in the first decade of 2000s, but still valid. Different nomenclatures for environmental zones with similar purpo...

  16. 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. ...

  17. Fetal analysis with invasive method (FA-I) and fetal analysis with non-invasive method (FA-NI): replacing current, deceptively imprecise clinical nomenclature.

    Science.gov (United States)

    Chervenak, Frank A; McCullough, Laurence B; Dudenhausen, Joachim

    2017-11-27

    There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FANI) using various techniques. This new nomenclature is designed to be precise and therefore facilitate effective communication among physicians and with pregnant women. For ease of use the new nomenclature can be formulated as an abbreviation: FA-I and FA-NI.

  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. BEYOND THE GARDENS: NOTES ON NOMENCLATURE, DISTRIBUTION AND CONSERVATION OF Philodendron melinonii BRONGN. EX REGEL, AN EMBLEMATIC AMAZONIAN AROID

    Directory of Open Access Journals (Sweden)

    Luana S. B. Calazans

    2017-03-01

    Full Text Available Philodendron melinonii is an Amazonian species common in botanical gardens and urban landscaping, however its taxonomy, natural distribution and conservation are barely addressed in the literature. This work presents the nomenclatural history of the species with lectotype designation, a typographical correction and comments on its biogeographic distribution and conservation. Keywords: typification; biogeographic provinces; collection effort; Araceae; Amazonia.

  20. 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

  1. 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

    of the oxidized bases including 8-oxo-7,8-dihydroguanine (8-oxoGua), a ubiquitous marker of almost every type of oxidative stress in cells. Efforts to standardize the nomenclature and abbreviations of the main DNA degradation products that arise from oxidative pathways are reported. Information is also provided...

  2. Five root canals in peg lateral incisor with dens invaginatus: A case report with new nomenclature for the five canals

    Science.gov (United States)

    Jaikailash, Shanmugam; Kavitha, Mahendran; Ranjani, Muthukrishnan Sudharshana; Saravanan, Balasubramaniam

    2014-01-01

    This case report describes endodontic treatment completed in a peg-shaped maxillary lateral incisor, with single root and five root canals of which, one is due to dens invaginatus. Cone beam computed tomogram scanning confirmed the unique morphology of the tooth. New nomenclature for the five canals is proposed. PMID:25125854

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. Stratigraphic nomenclature and geologic sections of the Gulf Coastal Plain of Texas

    Science.gov (United States)

    Baker, E.T.

    1995-01-01

    Geologic sections showing the subsurface delineation of approximately 100 Stratigraphic units composing the Mesozoic and Cenozoic Eras illustrate the interrelation of these units across most of the Gulf Coastal Plain of Texas. The geologic names that constitute the nomenclature have been published, and the vast majority are approved for use by the U.S. Geological Survey. Four dip sections and four strike sections, extending from the land surface to a maximum of about 18,000 feet below sea level, provide continuity of correlation from the outcrop to the deep subsurface. Stratigraphic units containing water with less than 3,000 milligrams per liter concentration of dissolved solids are shown on the geologic sections and serve as an indicator of water quality in the Gulf Coastal Plain of Texas.

  8. A plea for extension of the anatomical nomenclature. Part 1: Nervous system and senses.

    Science.gov (United States)

    Kachlík, D; Musil, V; Baca, V

    2017-01-01

    A correct, exact, concise and detailed anatomical nomenclature is a cornerstone of communication not only in anatomy and related subjects but also in other medical branches and in the whole medical education. Terminologia Anatomica fulfils this task but some important structures are still missing there. The authors have collected and present here a list of terms including their definitions or explanations to provoke discussion about possible extension of the Terminologia Anatomica. The first part of this contribution, presented in this article, comprises 113 terms concerning the regulation systems of the human body: endocrine glands, central and peripheral nervous system, and senses. It also contains some corrections of anatomical mistakes, systemic inconsistencies and grammar changes.

  9. 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.

  10. 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.

  11. 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.

  12. Bird naming systems by Akan people in Ghana follow scientific nomenclature with potentials for conservation monitoring.

    Science.gov (United States)

    Deikumah, Justus P; Konadu, Vida Asieduwaa; Kwafo, Richard

    2015-10-31

    Studies on indigenous knowledge of fauna particular birds and its potential use in biodiversity conservation and management are rare globally. Characteristics used in creating indigenous bird names in many Ghanaian languages are undocumented. The main aim of this study is to answer the question "whether indigenous bird naming systems by the Akan tribes in Ghana follow scientific nomenclature and whether indigenous Akan bird knowledge can potentially help improve bird conservation efforts in Ghana. Purposive sampling technique was employed in selecting 10 respondents from 25 communities in the five administrative districts in the Central Region. The study was conducted between November 2014 and March 2015. A mixed method approach was adopted in the data collection including key person interviews, focus group discussion, and structured interview supported by a participatory field observation. Indigenous people in the study area have reported 143 species of birds belonging to 44 families representing 57 % of total number of species with known local names in Ghana. The study revealed that just as Latin and common English naming systems, indigenous Akan bird names originated from features of the bird, including plumage, vocalizations or behavioural characteristics and belief systems of the indigenous people. The study also discovered that indigenous people in the study area have distinct names for different species within a particular family for most of the birds they could identify. However, they occasionally assign a single general name for either the entire family or all species therein. The study found evidence to support the prediction that indigenous bird naming systems in the Akan language follow scientific nomenclature. Indigenous knowledge and understanding of birds in the study area can be tapped and used in conservation planning and monitoring of birds. This research thus provides sufficient evidence to prove that indigenous knowledge by the Akan tribes in

  13. 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,

  14. Genetic Relationship among Three Subspecies of Oncorhynchus masou Determined by Mitochondrial DNA Sequence Analysis

    OpenAIRE

    Ichiro, Oohara; Toshio, Okazaki; National Research Institute of Aquaculture; National Research Institute of Aquaculture

    1996-01-01

    It is generally accepted that there are 3 subspecies of Oncorhynchus masou in Japan, namely, Masu salmon (Oncorhynchus masou masou (Brevoort)), Amago salmon (O. masou ishikawae Jordan & McGregor), and Biwa salmon (O. masou rhodurus Jordan & McGregor or O. masou subsp. Kimura). Since the genetic relationship of these three taxa is not well known, there has been considerable confusion over their nomenclature. We have clarified the genetic relationship among these three taxa by partially sequenc...

  15. New proposals for naming lower-ranked taxa within the frame of the International Code of Zoological Nomenclature.

    Science.gov (United States)

    Dubois, Alain

    2006-10-01

    The recent multiplication of cladistic hypotheses for many zoological groups poses a challenge to zoological nomenclature following the International Code of Zoological Nomenclature: in order to account for these hypotheses, we will need many more ranks than currently allowed in this system, especially in lower taxonomy (around the ranks genus and species). The current Code allows the use of as many ranks as necessary in the family-series of nomina (except above superfamily), but forbids the use of more than a few ranks in the genus and species-series. It is here argued that this limitation has no theoretical background, does not respect the freedom of taxonomic thoughts or actions, and is harmful to zoological taxonomy in two respects at least: (1) it does not allow to express in detail hypothesized cladistic relationships among taxa at lower taxonomic levels (genus and species); (2) it does not allow to point taxonomically to low-level differentiation between populations of the same species, although this would be useful in some cases for conservation biology purposes. It is here proposed to modify the rules of the Code in order to allow use by taxonomists of an indeterminate number of ranks in all nominal-series. Such an 'expanded nomenclatural system' would be highly flexible and likely to be easily adapted to any new finding or hypothesis regarding cladistic relationships between taxa, at genus and species level and below. This system could be useful for phylogeographic analysis and in conservation biology. In zoological nomenclature, whereas robustness of nomina is necessary, the same does not hold for nomenclatural ranks, as the latter are arbitrary and carry no special biological, evolutionary or other information, except concerning the mutual relationships between taxa in the taxonomic hierarchy. Compared to the Phylocode project, the new system is equally unambiguous within the frame of a given taxonomic frame, but it provides more explicit and

  16. Nomenclatural issues in ornithology: the incredible controversy on the identity of a long overlooked Brazilian bird.

    Science.gov (United States)

    Nemésio, André; Rasmussen, Claus; Aguiar, Alexandre P; Pombal, José P; Dubois, Alain

    2013-11-06

    The identity of Scytalopus speluncae (Ménétriés, 1835) (Aves: Passeriformes: Rhinocryptidae), a tapaculo from southeastern Brazil, has been the matter of debate during the last eight years. A group of ornithologists considers that the nomen Scytalopus speluncae should be attributed to a species endemic to coastal mountains of southeastern Brazil, whereas another group considers it a species from the drier environments of another mountain belt in Minas Gerais, southeastern Brazil. Both research groups disagree on the identity of the still extant but damaged alleged holotype, deposited at the Zoological Institute of the Russian Academy of Sciences, St. Petersburg, on the identity of the holotype specimen illustration from a plate accompanying the species description, and even on the type locality. To further complicate this matter of identity, members of each research group, based on their own interpretations of the identity of Scytalopus speluncae, described and named again the two species with different nomina, erecting at least one unnecessary nomen. After almost ten years of a debate, there is still no consensus on the identity of the species, and there are now at least three available nomina for apparently only two distinct biological species. As taxonomists belonging to fields of zoology other than ornithology, and realizing the above situation is mainly a nomenclatural one, we herein present a summary of the contentious issue, try to distinguish what seems to be facts and speculation and based on these we consider the rules of the International Code of Zoological Nomenclature (the Code) whenever appropriate, in the hope of bringing some objectivity to the debate. We conclude that no unequivocal evidence was presented to decide to which species the type specimen belongs solely based on its morphological characters, since the holotype presents considerable damage. On the other hand, the original designation of the type locality by Ménétriés (1835) as S

  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. A single nomenclature and associated database for alleles at the MHC class II DRB1 locus of sheep: IPD-MHC-OLA

    Science.gov (United States)

    The development of standardised nomenclatures with associated databases containing reference sequences for alleles at polymorphic loci within the Major Histocompatibility Complex (MHC) has been facilitated by the development of the Immuno Polymorphism Database (IPD-MHC). Recently, included within I...

  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. 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.

  1. Tobacco harm reduction: conceptual structure and nomenclature for analysis and research.

    Science.gov (United States)

    Shiffman, Saul; Gitchell, Joe G; Warner, Kenneth E; Slade, John; Henningfield, Jack E; Pinney, John M

    2002-01-01

    The goal of tobacco control has always been to reduce death and disease due to tobacco use. Recent discussions have broadened the concept of tobacco control beyond cessation and prevention to include concepts such as the use of medications to achieve reduction in tobacco use, chemoprevention to reduce disease, modifications of tobacco products to reduce toxicity, and behavioral approaches to change smoking and tobacco use behavior. Within each of these broad domains, diverse approaches have been suggested. To facilitate clear discussion and analysis, and to avoid confusion among approaches, we catalog 19 approaches to harm reduction, distinguishing and discussing them on 11 dimensions, including their objectives, mechanisms, toxicology, expected population risks, and consumer appeal. Because there have also been so many suggested applications of medicinal nicotine to smoking intervention, we separately catalog and analyze nine applications, some of which constitute new approaches to harm reduction. The suggested framework is intended to clarify the debate, provide for common nomenclature, and facilitate analysis of diverse approaches to tobacco harm reduction.

  2. H-type (hybrid) granitoids: a proposed revision of the granite-type classification and nomenclature

    Science.gov (United States)

    Castro, A.; Moreno-Ventas, I.; de la Rosa, J. D.

    1991-10-01

    Recent studies on calc-alkaline plutonic rocks reveal field and petrographic relationships with strong implications for the processes involved in their genesis. The presence of magmatic inclusions and magma mingling zones in these rocks supports an origin by magma mixing. Compositional variations and isotopic anomalies are a good test for such petrogenetic models. Most of these calc-alkaline plutonic rocks which characterize both collision-related and active plate margin environments have been classically identified as I (igneous)-type granitoids, following Chappell and White's (1974) classification, and then interpreted as derived from partial melting of older igneous rocks (restite model). If the magma mixing origin of a type of granitoids can be demonstrated from field and petrographic evidence and supported by chemical and isotopic variations, the nomenclature must be changed. In this sense the new category of H (hybrid)-type is tentatively introduced. It includes most of the so-called I-type granitoids and some of the S-type. As deduced from field relationships of magma mingling zones, a mixing model is suggested that can operate on a large scale to explain the petrogenesis of the Hercynian calc-alkaline granodiorites of Iberia. Finally, a modified classification of common plutonic rocks in orogenic environments is proposed.

  3. 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

  4. Taxonomic and nomenclatural notes on the genera Themus Motschulsky and Lycocerus Gorham (Coleoptera, Cantharidae

    Directory of Open Access Journals (Sweden)

    Yuxia Yang

    2013-10-01

    Full Text Available The following taxonomic or nomenclatural changes are proposed: Themus (s.str. regalis (Gorham, 1889 nom. rest.; T. (s.str. scutulatus Wittmer, 1983 = T. (s.str. hmong Kazantsev, 2007, syn. n.; T. (Telephorops coelestis (Gorham, 1889 = T. violetipennis Wang & Yang, 1992, syn. n.; T. (Telephorops uniformis Wittmer, 1983, stat. n. = T. (Telephorops cribripennis Wittmer, 1983, syn. n.; T. (Haplothemus licenti Pic, 1938, stat.rev., resurrected from synonymy with T. coriaceipennis (Fairmaire, 1889; Lycocerus aenescens (Fairmaire, 1889 = L. tcheonanus (Pic, 1922, syn. n.; L. asperipennis (Fairmaire, 1891 = L. wangi (Švihla,2004, syn. n.; L. borneoensis nom. n. for Athemellus atricolor (Wittmer, 1972; L. bilineatus (Wittmer, 1995 = L. amplus (Wittmer, 1995, syn. n.; L. fairmairei nom. n. et stat. rev. for Athemus dimidiaticrus (Fairmaire, 1889, originally in Telephorus, resurrected from synonymy with L. orientalis (Gorham,1889; L. confossicollis (Fairmaire, 1891, comb. n. hereby transferred from Cantharis = L. multiimpressus (Wittmer, 1997, syn. n.; L. inopaciceps (Pic, 1926 = Athemus (Athemellus bimaculicollis (Švihla, 2005, syn. n.; L. nigratus nom. n. for L. nigricolor (Wittmer, 1972, originally in Podabrinus; L. plebejus (Kiesenwetter, 1874 = L. brunneonotaticeps (Pic, 1922, syn. n. = Cantharis rufonotaticeps Pic, 1921, syn. n.; L. swampingatus (Pic, 1916, comb. n., hereby transferred from Cantharis. The neotypes of Themus violetipennis Wang & Yang, 1992 and Athemus (s.str. maculithorax Wang & Yang, 1992 are designated respectively.

  5. 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.

  6. 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.

  7. 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.

  8. New species, nomenclatural changes and recent taxonomic studies in the genus Stylosanthes (Leguminosae: An update

    Directory of Open Access Journals (Sweden)

    Teodardo Calles

    2016-05-01

    Full Text Available Since the last taxonomic overview during the 1982 Stylosanthes Symposium in Townsville, Australia, 10 new species: S. falconensis, S. longicarpa, S. maracajuensis, S. nunoi, S. quintanarooensis, S. recta, S. salina, S. seabrana, S. vallsii and S. venezuelensis; and 1 botanical variety: S. guianensis var. pauciflora; have been validly described. Furthermore, 2 nomenclatural changes have been proposed, both being elevations of botanical varieties to the rank of species: S. gracilis and S. rostrata. In the major taxonomic databases, The Plant List and GRIN, the taxonomic status (“accepted” vs. “synonym” vs. “unresolved” of some of these new taxa, however, differs. In addition, this paper reports on Stylosanthes names that can be found in the post-symposium literature but have not been validly published, and on recent regional studies of Stylosanthes taxonomy. Suggested research needs as perceived by non-botanists include an updated Stylosanthes monograph and taxonomic studies within the S. guianensis, S. hamata and S. scabra species complexes. Keywords: Taxonomy, validly published names.DOI: 10.17138/TGFT(4122-128

  9. 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.

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

    Science.gov (United States)

    2012-01-01

    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. PMID:22313950

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

    NARCIS (Netherlands)

    Alemu, S.W.; Berg, P.; Janss, L.; Bijma, P.

    2016-01-01

    Social interactions among individuals are abundant, both in wild and in domestic populations. With social interactions, the genes of an individual may affect the trait values of other individuals, a phenomenon known as indirect genetic effects (IGEs). IGEs can be estimated using linear mixed models.

  12. Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.

    Science.gov (United States)

    Manchanda, Ranjit; Burnell, Matthew; Loggenberg, Kelly; Desai, Rakshit; Wardle, Jane; Sanderson, Saskia C; Gessler, Sue; Side, Lucy; Balogun, Nyala; Kumar, Ajith; Dorkins, Huw; Wallis, Yvonne; Chapman, Cyril; Tomlinson, Ian; Taylor, Rohan; Jacobs, Chris; Legood, Rosa; Raikou, Maria; McGuire, Alistair; Beller, Uziel; Menon, Usha; Jacobs, Ian

    2016-07-01

    Newer approaches to genetic counselling are required for population-based testing. We compare traditional face-to-face genetic counselling with a DVD-assisted approach for population-based BRCA1/2 testing. A cluster-randomised non-inferiority trial in the London Ashkenazi Jewish population. Ashkenazi Jewish men/women >18 years; exclusion criteria: (a) known BRCA1/2 mutation, (b) previous BRCA1/2 testing and (c) first-degree relative of BRCA1/2 carrier. Ashkenazi Jewish men/women underwent pre-test genetic counselling prior to BRCA1/2 testing in the Genetic Cancer Prediction through Population Screening trial (ISRCTN73338115). Genetic counselling clinics (clusters) were randomised to traditional counselling (TC) and DVD-based counselling (DVD-C) approaches. DVD-C involved a DVD presentation followed by shorter face-to-face genetic counselling. Outcome measures included genetic testing uptake, cancer risk perception, increase in knowledge, counselling time and satisfaction (Genetic Counselling Satisfaction Scale). Random-effects models adjusted for covariates compared outcomes between TC and DVD-C groups. One-sided 97.5% CI was used to determine non-inferiority. relevance, satisfaction, adequacy, emotional impact and improved understanding with the DVD; cost-minimisation analysis for TC and DVD-C approaches. 936 individuals (clusters=256, mean-size=3.6) were randomised to TC (n=527, clusters=134) and DVD-C (n=409, clusters=122) approaches. Groups were similar at baseline, mean age=53.9 (SD=15) years, women=66.8%, men=33.2%. DVD-C was non-inferior to TC for increase in knowledge (d=-0.07; lower 97.5% CI=-0.41), counselling satisfaction (d=-0.38, 97.5% CI=1.2) and risk perception (d=0.08; upper 97.5% CI=3.1). Group differences and CIs did not cross non-inferiority margins. DVD-C was equivalent to TC for uptake of genetic testing (d=-3%; lower/upper 97.5% CI -7.9%/1.7%) and superior for counselling time (20.4 (CI 18.7 to 22.2) min reduction (pgenetic testing. 95

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

    Directory of Open Access Journals (Sweden)

    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

  14. Nomenclature and classification of vasculitis: lessons learned from granulomatosis with polyangiitis (Wegener's granulomatosis)

    Science.gov (United States)

    Jennette, J C

    2011-01-01

    Names influence how something is perceived. Diagnostic terms (diagnoses) are the names of diseases that are usually derived either from some distinctive characteristic of the disease or include an eponym recognizing someone who elucidated the disease. No matter how logical and appropriate a name may be, if it is not usable and used it is of no lasting value. This brief commentary focuses on the nomenclature of systemic vasculitides, and uses as a prime example Wegener's granulomatosis, which has been renamed recently ‘granulomatosis with polyangiitis’, in part because of concerns about the suitability of Friedrich Wegener as the source of an eponym. The most distinctive pathological feature of Wegener's granulomatosis is multi-focal necrotizing inflammation that has long been called granulomatosis. The systemic variant of Wegener's granulomatosis also is characterized by inflammation in many different vessels or different types, i.e. polyangiitis. Thus, granulomatosis with polyangiitis is a very appropriate alternative term for Wegener's granulomatosis. This term also is in accord with the name for a closely related vasculitis, i.e. microscopic polyangiitis. Terms that indicate aetiology and pathogenesis, when known, are useful to include in names for diseases (diagnoses). Anti-neutrophil cytoplasmic autoantibodies specific for myeloperoxidase (MPO-ANCA) or proteinase 3 (PR3-ANCA) are implicated in the cause of granulomatosis with polyangiitis and thus also should be specified in the diagnosis (e.g. PR3-ANCA-positive granulomatosis with polyangiitis or MPO-ANCA-positive microscopic polyangiitis). As our understanding of the clinical manifestations, pathogenesis and aetiology of vasculitides change over time, the names and approaches for diagnosing these diseases will change accordingly. PMID:21447122

  15. Novel femoral artery terminology: integrating anatomy and clinical procedures leading to standardized intuitive nomenclature.

    Science.gov (United States)

    Benninger, Brion

    2014-10-01

    The objective of this study is to investigate the terminology of the femoral artery and recommended alternative terminology that satisfies both anatomy and clinical arenas.The femoral artery (FA) is often defined as the continuation of the external iliac artery. Specifically, when the external iliac artery reaches directly beneath the inguinal ligament, it becomes the FA. Currently, Terminologia Anatomica (TA) records the profunda femoris or deep femoral as a terminal branch. Clinicians often use superficial femoral artery (SFA) rather than FA and profunda or deep FA. SFA is actually very deep and well protected for most of its journey. On observation, the terminology in current use is not intuitive. The objective of this study was to investigate the terminology associated with the anatomical and clinical anatomical interpretations of the FA and its terminal branches and to suggest a more appropriate terminology that addresses the points of view of the macro anatomist, as well as that of the clinician. Literature search was conducted regarding the nomenclature of the FA and its terminal branches. Dissection of 89 embalmed cadavers (49F, 40M, ages 47-89) was conducted to analyze the morphology of the FA and its branches. Perusal of the literature revealed a difference in terminology between anatomical and clinical textbooks/atlases/journals regarding the FA and its terminal branch. Our dissections suggested that the FA may be better defined vis-à-vis its relationship to the anterior and posterior compartments of the thigh. A difference in terminology exists between the anatomical and clinical arenas. A need for a standardized terminology is necessary because clinicians and their publishers have not adopted TA. This study suggests that the current FA be considered the common FA and the continuation of the FA, the SFA be renamed the anterior FA and the current profunda (the deep FA) be renamed the posterior FA, respectively. The proposed terminology mirrors the lower

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

    Science.gov (United States)

    Bryan, Rachel; Aronson, Jeffrey K; ten Hacken, Pius; Williams, Alison; Jordan, Sue

    2015-01-01

    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 errors.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. DNA commission of the International Society for Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

    DEFF Research Database (Denmark)

    Gill, P; Brenner, C; Brinkmann, B

    2001-01-01

    During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relat...... a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods....

  19. DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome short tandem repeats

    DEFF Research Database (Denmark)

    Gill, P.; Brenner, C.; Brinkmann, B.

    2001-01-01

    During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relat...... a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods Udgivelsesdato: 2001/12...

  20. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    DEFF Research Database (Denmark)

    Wirth, J; Nothwang, H G; van der Maarel, S

    1999-01-01

    Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs...... the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint...

  1. 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

  2. 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.

  3. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  5. 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

  6. Synthetic Genetic Arrays: Automation of Yeast Genetics.

    Science.gov (United States)

    Kuzmin, Elena; Costanzo, Michael; Andrews, Brenda; Boone, Charles

    2016-04-01

    Genome-sequencing efforts have led to great strides in the annotation of protein-coding genes and other genomic elements. The current challenge is to understand the functional role of each gene and how genes work together to modulate cellular processes. Genetic interactions define phenotypic relationships between genes and reveal the functional organization of a cell. Synthetic genetic array (SGA) methodology automates yeast genetics and enables large-scale and systematic mapping of genetic interaction networks in the budding yeast,Saccharomyces cerevisiae SGA facilitates construction of an output array of double mutants from an input array of single mutants through a series of replica pinning steps. Subsequent analysis of genetic interactions from SGA-derived mutants relies on accurate quantification of colony size, which serves as a proxy for fitness. Since its development, SGA has given rise to a variety of other experimental approaches for functional profiling of the yeast genome and has been applied in a multitude of other contexts, such as genome-wide screens for synthetic dosage lethality and integration with high-content screening for systematic assessment of morphology defects. SGA-like strategies can also be implemented similarly in a number of other cell types and organisms, includingSchizosaccharomyces pombe,Escherichia coli, Caenorhabditis elegans, and human cancer cell lines. The genetic networks emerging from these studies not only generate functional wiring diagrams but may also play a key role in our understanding of the complex relationship between genotype and phenotype. © 2016 Cold Spring Harbor Laboratory Press.

  7. 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.

  8. New species of Trimma (Actinopterygii, Gobiidae) from Indonesia, with comments on head papillae nomenclature.

    Science.gov (United States)

    Winterbottom, Richard; Erdmann, Mark V

    2015-06-17

    Three new species of the gobiid Trimma are described from Indonesian waters, and a partially reformulated nomenclature for the cephalic sensory papillae of members of this genus is provided. Trimma aturirii possesses two dark oblique stripes on either side of the pupil (blue, edged with red in life, dark brown in preservative), the lower of which continues posteriorly across the dorsal margin of the opercle, with the dorsal half of the body red and the ventral half abruptly white in life. The species has a narrow bony interorbital (≤50% pupil width), a moderate interorbital trench with a slight groove posterodorsal to the eye, no scales on the cheek, opercle or in the predorsal midline, no elongate spines in the first dorsal fin, 9-10 dorsal and 9 anal fin rays, 17-18 (7-11 branched) pectoral fin rays and an unbranched fifth pelvic fin ray. Trimma kardium has a pair of tapering oval red spots which join anteriorly over the anterior region of the hyoid arches, forming an approximate heart-shaped marking on the ventral surface of the head. It has a narrow bony interorbital (≤40% pupil width), a moderate interorbital trench with a slight groove posterodorsal to the eye, 17-18 unbranched pectoral fin rays, 1-5 cycloid scales in the predorsal midline confined to about the middle third of the nape, and a single row of 1-3 cycloid scales along the upper border of the opercle. Trimma trioculatum has a large (slightly greater than pupil diameter in width) round, black, ocellated spot in the first dorsal fin between spines 1 and 5, a second, much smaller black or dark red spot just posterior to the spine of the second dorsal fin and above the basal stripe, a yellow body with a dark purplish or gray head with two distinct red bars across the cheek, no round spots of any colour on the nape, opercle or cheek, a small dark (preserved) or white (alive) spot on the upper pectoral fin base, a narrow bony interorbital (<70% pupil diameter), no elongate spines in the first dorsal

  9. Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data.

    Directory of Open Access Journals (Sweden)

    Geik Yong Ang

    Full Text Available The human cytochrome P450 (CYP is a superfamily of enzymes that have been a focus in research for decades due to their prominent role in drug metabolism. CYP2C is one of the major subfamilies which metabolize more than 10% of all clinically used drugs. In the context of CYP2C19, several key genetic variations that alter the enzyme's activity have been identified and catalogued in the CYP allele nomenclature database. In this study, we investigated the presence of well-established variants as well as novel polymorphisms in the CYP2C19 gene of 62 Orang Asli from the Peninsular Malaysia. A total of 449 genetic variants were detected including 70 novel polymorphisms; 417 SNPs were located in introns, 23 in upstream, 7 in exons, and 2 in downstream regions. Five alleles and seven genotypes were inferred based on the polymorphisms that were found. Null alleles that were observed include CYP2C19*3 (6.5%, *2 (5.7% and *35 (2.4% whereas allele with increased function *17 was detected at a frequency of 4.8%. The normal metabolizer genotype was the most predominant (66.1%, followed by intermediate metabolizer (19.4%, rapid metabolizer (9.7% and poor metabolizer (4.8% genotypes. Findings from this study provide further insights into the CYP2C19 genetic profile of the Orang Asli as previously unreported variant alleles were detected through the use of massively parallel sequencing technology platform. The systematic and comprehensive analysis of CYP2C19 will allow uncharacterized variants that are present in the Orang Asli to be included in the genotyping panel in the future.

  10. Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data.

    Science.gov (United States)

    Ang, Geik Yong; Yu, Choo Yee; Subramaniam, Vinothini; Abdul Khalid, Mohd Ikhmal Hanif; Tuan Abdu Aziz, Tuan Azlin; Johari James, Richard; Ahmad, Aminuddin; Abdul Rahman, Thuhairah; Mohd Nor, Fadzilah; Ismail, Adzrool Idzwan; Md Isa, Kamarudzaman; Salleh, Hood; Teh, Lay Kek; Salleh, Mohd Zaki

    2016-01-01

    The human cytochrome P450 (CYP) is a superfamily of enzymes that have been a focus in research for decades due to their prominent role in drug metabolism. CYP2C is one of the major subfamilies which metabolize more than 10% of all clinically used drugs. In the context of CYP2C19, several key genetic variations that alter the enzyme's activity have been identified and catalogued in the CYP allele nomenclature database. In this study, we investigated the presence of well-established variants as well as novel polymorphisms in the CYP2C19 gene of 62 Orang Asli from the Peninsular Malaysia. A total of 449 genetic variants were detected including 70 novel polymorphisms; 417 SNPs were located in introns, 23 in upstream, 7 in exons, and 2 in downstream regions. Five alleles and seven genotypes were inferred based on the polymorphisms that were found. Null alleles that were observed include CYP2C19*3 (6.5%), *2 (5.7%) and *35 (2.4%) whereas allele with increased function *17 was detected at a frequency of 4.8%. The normal metabolizer genotype was the most predominant (66.1%), followed by intermediate metabolizer (19.4%), rapid metabolizer (9.7%) and poor metabolizer (4.8%) genotypes. Findings from this study provide further insights into the CYP2C19 genetic profile of the Orang Asli as previously unreported variant alleles were detected through the use of massively parallel sequencing technology platform. The systematic and comprehensive analysis of CYP2C19 will allow uncharacterized variants that are present in the Orang Asli to be included in the genotyping panel in the future.

  11. 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

  12. Prospective cross-sectional study using questionnaire to assess the effect of a different nomenclature for psychiatric illnesses on the perception of these diseases by university students.

    Science.gov (United States)

    Lau, Jerome; Kam, L S; Tsang, Y M; Chow, Boris C K; Fang, Y Y; Lam, K W; Lam, Y T; Li, Y Y; Wong, Cally H S

    2012-10-01

    OBJECTIVE. To assess the effect of a difference in nomenclature for psychiatric illness on perceptions of university students. DESIGN. Cross-sectional study. SETTING. Three local universities in Hong Kong. PARTICIPANTS. A total of 201 university students (undergraduates or postgraduates) were interviewed with a questionnaire. MAIN OUTCOME MEASURES. Score difference between the new and old nomenclature of each disease for each question of the questionnaire, using a 5-point Likert scale and an integrated score difference for each disease. RESULTS. Of the seven diseases investigated, six yielded a significant yet mild increase in positive perceptions with the new nomenclature. These diseases included schizophrenia (integrated score difference: +0.158, Pinvolving a more general population should be advocated to confirm the improvements in perception with the new naming system for psychiatric diseases.

  13. [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.

  14. 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.

  15. 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

  16. 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)

  17. Genetic Factors and the Risk of Periodontitis Development: Findings from a Systematic Review Composed of 13 Studies of Meta-Analysis with 71,531 Participants

    Directory of Open Access Journals (Sweden)

    Maélson Klever da Silva

    2017-01-01

    Full Text Available Purpose. This work aimed to synthesize the results of recent meta-analysis focusing on polymorphism in inflammatory mediators and its relation with the risk of periodontitis development. Materials and Methods. A systematic search was conducted using databases for publications prior to October 2016. Three examiners extracted data from articles with a clear association between polymorphisms in the inflammatory mediator gene and the development of periodontitis through meta-analysis using the fixed or randomized statistical models to calculate the Odds Ratio with values of P<0.05 considered significant. Results. A total of 13 meta-analysis articles with 25 polymorphisms in seven interleukins (IL-1A, IL-1B, IL-4, IL-6, IL-8, IL-10, and IL-18, three cellular receptors (Fcγ receptors: FCGR2A, FCGR3A, and FCGR3B, and five inflammatory mediators (COX-2, MMP-2, MMP-3, MMP-8, and MMP-9, with a total of 71,531 participants, approaching different classifications of the disease. Conclusion. The study demonstrated that polymorphisms in the IL-1A, IL-1B, IL-6, IL-10, MMP-3 (chronic form, and MMP-9 (chronic form polymorphisms were significantly associated with the risk of developing periodontitis, whereas other polymorphisms in the IL-4, IL-8, IL-18, Fcγ, COX-2, MMP-2, MMP-3 (aggressive, MMP-8, and MMP-9 (aggressive polymorphisms had no significant association with risk of developing periodontitis.

  18. 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

  19. 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.

  20. A systematic review of issues around antenatal screening and prenatal diagnostic testing for genetic disorders: women of Asian origin in western countries.

    Science.gov (United States)

    Yu, Juping

    2012-07-01

    Antenatal screening has become standard practice in many countries. However, not all pregnant women choose to be tested. In the UK, the incidence of some birth defects is found to be higher in babies of Asian women than in those of women from other ethnic groups, while there is some evidence suggesting that ethnic minorities, especially Asian women, are less likely to undergo antenatal screening and prenatal diagnosis, the reasons for which are unclear. This study aims to identify and describe the literature on issues around antenatal screening and prenatal diagnostic testing for genetic disorders among women of Asian descent in western countries. The Medline, CINAHL, ASSIA and PsycInfo databases were searched for the period of 1995 and 2010. Twenty-one studies met the inclusion criteria and were therefore reviewed. In general, Asian women were found to hold favourable attitudes towards testing. However, they reported a poorer understanding of testing than white women and not being offered a test, and were less able to make informed choices. Asian women in the UK and Australia were found to be less likely than their white counterparts to have undergone prenatal diagnosis, while such differences were not found in the USA and Canada. The equity of access to quality antenatal care, alongside comprehensive well thought out antenatal screening programmes, can be assured if strategies are in place which actively involve all ethnic groups and take account of social and cultural appropriateness for the population served. An understanding of broad factors that inform women's decision-making on test uptake would help health professionals provide women and their families with more culturally sensitive information and support that they may additionally need to make more informed choices. © 2011 Blackwell Publishing Ltd.

  1. High genetic barrier nucleos(t)ide analogue(s) for prophylaxis from hepatitis B virus recurrence after liver transplantation: a systematic review.

    Science.gov (United States)

    Cholongitas, E; Papatheodoridis, G V

    2013-02-01

    The combination of hepatitis B immunoglobulin (HBIG) and nucleos(t)ide analogues [NA(s)] is considered as the standard of care for prophylaxis against HBV recurrence after liver transplantation (LT), but the optimal protocol is controversial. We evaluated the efficacy of the newer NAs with high genetic barrier (hgbNA) [i.e. entecavir (ETV) or tenofovir (TDF)] with or without HBIG as prophylaxis against HBV recurrence after LT. In total, 519 HBV liver transplant recipients from 17 studies met the inclusion criteria and they were compared to those under lamivudine (LAM) and HBIG who had been selected in our previous review. Patients under HBIG and LAM developed HBV recurrence (115/1889 or 6.1%): (a) significantly more frequently compared to patients under HBIG and a hgbNA [1.0% (3/303), p < 0.001], and (b) numerically but not significantly more frequently compared to the patients who received a newer NA after discontinuation of HBIG [3.9% (4/102), p = 0.52]. The use of a hgbNA without any HBIG offered similar antiviral prophylaxis compared to HBIG and LAM combination, if the definition of HBV recurrence was based on HBV DNA detectability [0.9% vs. 3.8%, p = 0.11]. Our findings favor the use of HBIG and a hgbNA instead of HBIG and LAM combined prophylaxis against HBV recurrence after LT. © Copyright 2012 The American Society of Transplantation and the American Society of Transplant Surgeons.

  2. Biventricular repair in double outlet right ventricle: surgical results based on the STS-EACTS International Nomenclature classification.

    Science.gov (United States)

    Artrip, John H; Sauer, Henning; Campbell, David N; Mitchell, Max B; Haun, Christoph; Almodovar, Melvin C; Hraska, Viktor; Lacour-Gayet, Francois

    2006-04-01

    The STS-EACTS International Nomenclature for Congenital Heart Surgery (CHS) defines four anatomic subtypes of double outlet right ventricle (DORV) based on the relationship of the ventricular septal defect (VSD) with the great vessels and the presence of right ventricular outflow tract obstruction (RVOTO). We reviewed our experience with DORV patients and two ventricles that underwent repair, applying this nomenclature. Between January 2000 and January 2005, 50 patients with DORV and two viable ventricles underwent surgical intervention: 44 patients had biventricular repair, 3 had 1.5 ventricular repair, 2 underwent a Fontan, and 1 died prior to corrective surgery. Median age at repair was 9.1 months (range: 4D-4Y). Eighteen patients (36%) were DORV-Fallot (including 5 with AVSD and heterotaxy), 9 (18%) were DORV-TGA (Taussig-Bing), 12 (24%) were DORV-VSD, and 11 (22%) were DORV non-committed VSD. Corrective surgery included 35 repairs with a VSD-aorta baffle+/-RVOTO procedure and 12 arterial switches with a VSD-PA baffle (9 Taussig-Bing and 3 DORV-ncVSD). Associated procedures included 13 VSD enlargements, 8 subaortic resections, 9 arch repairs, 5 AVSD repairs, and 7 others. There were three deaths in the 50 patients studied (overall mortality of 6%). Excluding one patient that died prior to corrective surgery and the two patients palliated with a Fontan procedure, the actual surgical mortality for a corrective repair was 4.3% (2/47 patients). Two surgical deaths occurred following, respectively, one repair of a Taussig-Bing with an interrupted arch and a Swiss cheese VSD and one repair of ncVSD-type with pulmonary atresia that had undergone a previous cavo-pulmonary anastamosis. No late deaths occurred. Two late reoperations included a heart transplant in a DORV-Fallot patient with Swiss cheese VSD and subaortic resection in a DORV-ncVSD patient. Angioplasties were needed for PA stenosis (n=2) and aortic arch obstruction (n=2). Four patients had LV to aorta

  3. Agentes complexantes: podante, coronante e criptante classificação e nomenclatura Complexing agents: podands, coronands and cryptands classification and nomenclature

    Directory of Open Access Journals (Sweden)

    Oh Lin Whei

    1998-10-01

    Full Text Available The scientific and practical interest in crown ethers as complexing agents for actions as well as for anions and neutral low molecular species is undeniable. New molecules with crown ether properties are constantly synthesized and new application discovered. This paper presents classification and nomenclature of the classical oligoethers (crown ethers: monocyclic coronands; oligocyclic spherical cryptands; and acyclic podands.

  4. 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...

  5. 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.

  6. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

    Science.gov (United States)

    Splendore, Alessandra; Fanganiello, Roberto D; Masotti, Cibele; Morganti, Lucas S C; Passos-Bueno, M Rita

    2005-05-01

    Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br/TCOF1_database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene.

  7. 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.

  8. 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.

  9. 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.

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

    Science.gov (United States)

    Neubauer, Thomas A; Harzhauser, Mathias; Kroh, Andreas; Elisavet, Georgopoulou; Mandic, Oleg

    2014-01-01

    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.

  11. [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].

    Science.gov (United States)

    Oji, V

    2010-10-01

    Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification (MEDOC) affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all ichthyosis forms has been elucidated. In 2009, the worldwide first Ichthyosis Consensus Classification was approved. Its nosology is based on the clinical presentation and reflects recent pathogenic aspects. It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital ichthyosis represents the umbrella for harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. Ichthyoses due to keratin mutations are referred to as KPI/keratinopathic ichthyosis and include epidermolytic ichthyosis (EI) and superficial epidermolytic ichthyosis (SEI). In Germany the Network for Ichthyoses and Related Keratinization Disorders (NIRK) and the patient organization Selbsthilfe Ichthyose e.V. provide contact points for diagnostic and therapeutic questions.

  12. 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

  13. 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...

  14. 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.

  15. 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

    2018-03-14

    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.

  16. 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.

  17. 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

  18. Miamia maimai n. sp., a new Pennsylvanian stem-orthopteran insect, and a case study on the application of cladotypic nomenclature

    Directory of Open Access Journals (Sweden)

    O. Béthoux

    2012-08-01

    Full Text Available A new stem-orthopteran insect assignable to the – traditional – genus and the – cladotypic-defined – taxon Miamia Dana, 1864 is described based on abundant material collected from the Xiaheyan locality (Ningxia, China; Early Pennsylvanian. Intra-specific wing venation variability in Miamia maimai n. sp. is appreciated based on wing pairs of single individuals, and on a complete series of conditions. Rare variants are reported. Details of head and leg morphology are documented: the new species possesses a five-segmented tarsus provided with paired claws and arolium, and labial palps with at least four segments, probably five. The nomenclatural section is conducted under the cladotypic nomenclatural procedure, but in a way largely consistent with the traditional usage. This experiment demonstrates that a combination composed of a "genus level-taxon" name previously associated with a definition and type material (e.g. Miamia, a specific epithet (e.g. maimai, and authorship information (e.g. Béthoux et al. 2012, with further mention to "Miamia maimai" or "M. maimai", provides a suitable reference to the species under all nomenclatural procedures, including the traditional one. doi:10.1002/mmng.201200008

  19. Terminologia Anatomica versus unofficial descriptions and nomenclature of the fasciae and ligaments of the female pelvis: a dissection-based comparative study.

    Science.gov (United States)

    Ercoli, Alfredo; Delmas, Vincent; Fanfani, Francesco; Gadonneix, Pierre; Ceccaroni, Marcello; Fagotti, Anna; Mancuso, Salvatore; Scambia, Giovanni

    2005-10-01

    The aims of this study were: (1) to define and classify those connective structures of the female pelvis that are of potential clinical interest, (2) to evaluate the adequacy of the Terminologia Anatomica (official nomenclature) and (3) to establish a correspondence between the official nomenclature and the most commonly used terms. The results of 30 macroscopic and laparoscopic dissections of fresh cadavers with and without vessel injection of colored latex solutions were compared with the descriptions and definitions in the Terminologia Anatomica and the most frequently cited English and non-English literature from 1890 to 2003. We identified 3 groups of fasciae, parietal pelvic fascia, visceral pelvic fascia, and extraserosal pelvic fascia, which could be divided into diverse clinically relevant anatomical structures characterized by different locations, spatial orientation, and consistency. These structures differed considerably with regard to number and nomenclature from those described in the Terminologia Anatomica and part of the literature. Our results suggest that the official terminology applied to the connective structures of the female pelvis could be profitably revised and expanded. We offer a complete description of these structures and suggest a classification that may be useful for teaching and clinical purposes.

  20. 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.

  1. Generation and structural validation of a library of diverse xyloglucan-derived oligosaccharides, including an update on xyloglucan nomenclature.

    Science.gov (United States)

    Tuomivaara, Sami T; Yaoi, Katsuro; O'Neill, Malcolm A; York, William S

    2015-01-30

    Xyloglucans are structurally complex plant cell wall polysaccharides that are involved in cell growth and expansion, energy metabolism, and signaling. Determining the structure-function relationships of xyloglucans would benefit from the availability of a comprehensive and structurally diverse collection of rigorously characterized xyloglucan oligosaccharides. Here, we present a workflow for the semi-preparative scale generation and purification of neutral and acidic xyloglucan oligosaccharides using a combination of enzymatic and chemical treatments and size-exclusion chromatography. Twenty-six of these oligosaccharides were purified to near homogeneity and their structures validated using a combination of matrix-assisted laser desorption/ionization mass spectrometry, high-performance anion exchange chromatography, and 1H nuclear magnetic resonance spectroscopy. Mass spectrometry and analytical chromatography were compared as methods for xyloglucan oligosaccharide quantification. 1H chemical shifts were assigned using two-dimensional correlation spectroscopy. A comprehensive update of the nomenclature describing xyloglucan side-chain structures is provided for reference. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Importance to include the term superficial musculoaponeurotic system in medical subject headings and in the international anatomical nomenclature.

    Science.gov (United States)

    Ferreira, Lydia Massako; Locali, Rafael Fagionato; Lapin, Guilherme Abbud Franco; Hochman, Bernardo

    2011-06-01

    To investigate the relevance of the term superficial musculoaponeurotic system (SMAS) and demonstrate that this term is important enough to be added to the MeSH database and listed in International Anatomical Nomenclature. Terms related to SMAS were selected from original articles retrieved from the ISI Web of Science and MEDLINE (PubMed) databases. Groups of terms were created to define a search strategy with high-sensitivity and restricted to scientific periodicals devoted to plastic surgery. This study included articles between January 1996 and May 2009, whose titles, abstracts, and keywords were searched for SMAS-related terms and all occurrences were recorded. A total of 126 original articles were retrieved from the main periodicals related to plastic surgery in the referred databases. Of these articles, 51.6% had SMAS-related terms in the abstract only, and 25.4% had SMAS-related terms in both the title and abstract. The term 'superficial musculoaponeurotic system' was present as a keyword in 19.8% of the articles. The most frequent terms were 'SMAS' (71.4%) and superficial musculoaponeurotic system (62.7%). The term SMAS refers to a structure relevant enough to start a discussion about indexing it as a keyword and as an official term in Terminologia Anatomica: International Anatomical Terminology.

  3. 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.

  4. 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

  5. Systematic review

    DEFF Research Database (Denmark)

    Bager, Palle; Chauhan, Usha; Greveson, Kay

    2017-01-01

    OBJECTIVE: Advice lines for patients with inflammatory bowel diseases (IBD) have been introduced internationally. However, only a few publications have described the advice line service and evaluated the efficiency of it with many results presented as conference posters. A systematic synthesis...... 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...... 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...

  6. A revised circumscription for the Blakeeae (Melastomataceae with associated nomenclatural adjustments

    Directory of Open Access Journals (Sweden)

    Darin Penneys

    2013-02-01

    Full Text Available Systematic investigations and phylogenetic analyses of the Blakeeae (Melastomataceae have indicated that Topobea should be synonymized under Blakea, and Huilaea under Chalybea. Presented here is a detailed description of the Blakeeae, a key to its two accepted genera, and a listing of 62 new combinations, including 3 new names, necessitated by the transfer of Topobea as follows: B. acuminata (Wurdack Penneys & Judd, comb. nov., B. adscendens (E.Cotton & Matezki Penneys & Judd, comb. nov., B. albertiae (Wurdack Penneys & Almeda, comb. nov., B. amplifolia (Almeda Penneys & Almeda, comb. nov., B. arboricola (Almeda Penneys & Almeda, comb. nov., B. asplundii (Wurdack Penneys & Judd, comb. nov., B. barbata (Gleason Penneys & Judd, comb. nov., B. brenesii (Standl. Penneys & Almeda, comb. nov., B. brevibractea (Gleason Penneys & Judd, comb. nov., B. bullata (E.Cotton & Matezki Penneys & Judd, comb. nov., B. calcarata (L.Uribe Penneys & Judd, comb. nov., B. calophylla (Almeda Penneys & Almeda, comb. nov., B. calycularis (Naudin Penneys & Almeda, comb. nov., B. castanedae (Wurdack Penneys & Judd, comb. nov., B. clavata (Triana Penneys & Judd, nom. nov., B. cordata (Gleason Penneys & Almeda, comb. nov., B. cuprina Penneys & Judd, nom. nov., B. cutucuensis (Wurdack Penneys & Judd, comb. nov., B. dimorphophylla (Almeda Penneys & Almeda, comb. nov., B. discolor (Hochr. Penneys & Judd, comb. nov., B. dodsonorum (Wurdack Penneys & Almeda, comb. nov., B. eplingii (Wurdack Penneys & Judd, comb. nov., B. ferruginea (Gleason Penneys & Judd, comb. nov., B. fragrantissima (Almeda Penneys & Almeda, comb. nov., B. gerardoana (Almeda Penneys & Almeda, comb. nov., B. glaberrima (Triana Penneys & Judd, comb. nov., B. henripittieri (Cogn. Penneys & Almeda, comb. et nom. nov., B. hexandra (Almeda Penneys & Almeda, comb. nov., B. horologica Penneys & Judd, nom. nov., B. induta (Markgr. Penneys & Judd, comb. nov., B. inflata (Triana Penneys & Judd, comb. nov., B. insignis

  7. A revised circumscription for the Blakeeae (Melastomataceae) with associated nomenclatural adjustments.

    Science.gov (United States)

    Penneys, Darin S; Judd, Walter S

    2013-01-01

    Systematic investigations and phylogenetic analyses of the Blakeeae (Melastomataceae) have indicated that Topobea should be synonymized under Blakea, and Huilaea under Chalybea. Presented here is a detailed description of the Blakeeae, a key to its two accepted genera, and a listing of 62 new combinations, including 3 new names, necessitated by the transfer of Topobea as follows: Blakea acuminata (Wurdack) Penneys & Judd, comb. nov., Blakea adscendens (E.Cotton & Matezki) Penneys & Judd, comb. nov., Blakea albertiae (Wurdack) Penneys & Almeda, comb. nov., Blakea amplifolia (Almeda) Penneys & Almeda, comb. nov., Blakea arboricola (Almeda) Penneys & Almeda, comb. nov., Blakea asplundii (Wurdack) Penneys & Judd, comb. nov., Blakea barbata (Gleason) Penneys & Judd, comb. nov., Blakea brenesii (Standl.) Penneys & Almeda, comb. nov., Blakea brevibractea (Gleason) Penneys & Judd, comb. nov., Blakea bullata (E.Cotton & Matezki) Penneys & Judd, comb. nov., Blakea calcarata (L.Uribe) Penneys & Judd, comb. nov., Blakea calophylla (Almeda) Penneys & Almeda, comb. nov., Blakea calycularis (Naudin) Penneys & Almeda, comb. nov., Blakea castanedae (Wurdack) Penneys & Judd, comb. nov., Blakea clavata (Triana) Penneys & Judd, nom. nov., Blakea cordata (Gleason) Penneys & Almeda, comb. nov., Blakea cuprina Penneys & Judd, nom. nov., Blakea cutucuensis (Wurdack) Penneys & Judd, comb. nov., Blakea dimorphophylla (Almeda) Penneys & Almeda, comb. nov., Blakea discolor (Hochr.) Penneys & Judd, comb. nov., Blakea dodsonorum (Wurdack) Penneys & Almeda, comb. nov., Blakea eplingii (Wurdack) Penneys & Judd, comb. nov., Blakea ferruginea (Gleason) Penneys & Judd, comb. nov., Blakea fragrantissima (Almeda) Penneys & Almeda, comb. nov., Blakea gerardoana (Almeda) Penneys & Almeda, comb. nov., Blakea glaberrima (Triana) Penneys & Judd, comb. nov., Blakea henripittieri (Cogn.) Penneys & Almeda, comb. et nom. nov., Blakea hexandra (Almeda) Penneys & Almeda, comb. nov., Blakea horologica Penneys

  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. Genetic Mapping

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic ... genetic mapping? Among the main goals of the Human Genome Project (HGP) was to develop new, better and cheaper ...

  10. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  11. Genetic Testing

    Science.gov (United States)

    ... risk factor for the development of celiac disease, genetic predisposition. Without this factor, it is impossible that the ... with antibody testing in the future. When the genetic predisposition for celiac disease was detected (on Chromosome 6) ...

  12. Genetic counseling

    Science.gov (United States)

    ... have a high risk of having babies with Tay-Sachs or Canavan's disease. African-Americans, who may risk ... yours to make. Images Genetic counseling and prenatal diagnosis References Simpson JL, Holzgreve W, Driscoll DA. Genetic ...

  13. UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES

    Science.gov (United States)

    AKIYAMA, MASASHI

    2011-01-01

    ABSTRACT Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In 2009, the First Ichthyosis Consensus Conference was held to establish a consensus for the nomenclature and classification of inherited ichthyoses, by which an international consensus for the classification of inherited ichthyosis was achieved. In this review, the pathogeneses of various ichthyoses are summarized based on their revised classification and terminology. Skin barrier defects are involved in the pathogenesis of various types of ichthyosis. The known causative molecules underlying ichthyosis include ABCA12, lipoxygenase-3, 12R-lipoxygenase, CYP4F22, ichthyin and steroid sulfatase, all of which are thought to be related to the intercellular lipid layers. ABCA12 is a known keratinocyte lipid transporter associated with lipid transport in lamellar granules and a loss of ABCA12 function leads to defective lipid transport in the keratinocytes, resulting in the most severe, harlequin ichthyosis phenotype. Other causative molecules for ichthyoses are transglutaminase 1, keratins and filaggrin. Transglutaminase 1 plays a role in cornified cell envelope formation. Keratins 1, 10 and 2 are involved in the keratin network of suprabasal keratinocytes and filaggrin is essential for the formation of keratohyalin granules. It is important to obtain information concerning genetic defects and to elucidate ichthyotic disease pathomechanisms for the establishment of an effective therapy and beneficial genetic counseling, including a prenatal diagnosis for families affected by ichthyotic disease. PMID:21928690

  14. Genetic risk

    OpenAIRE

    ten Kate, Leo P.

    2012-01-01

    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show the expected pattern of occurrence in families. Factors that amplify genetic risk are also discussed. Of the two methods of genetic risk assessm...

  15. Revisions to the stratigraphic nomenclature of the Abiquiu Formation, Abiquiu and contiguous areas, north-central New Mexico

    Science.gov (United States)

    Maldonado, Florian; Kelley, Shari A.

    2009-01-01

    Stratigraphic studies and geologic mapping on the Abiquiu 7.5-min quadrangle have led to revision of the stratigraphic nomenclature for the Oligocene to Miocene Abiquiu Formation in north-central New Mexico. The Abiquiu Formation had previously been defined to include informal upper, middle (Pedernal chert member), and lower members. The basement-derived conglomeratic lower member in the northern Jemez Mountains and Abiquiu embayment is here redefined. We propose removing the "lower member" from the Abiquiu Formation because provenance of these coarse sediments is dramatically different than the volcaniclastic strata of the "upper member." Furthermore, we propose that the term "lower member of the Abiquiu Formation" be replaced with an existing unit name, the Ritito Conglomerate of Barker (1958), and that the name Abiquiu Formation be restricted to the volcaniclastic succession. The lower part of the Ritito Conglomerate in Arroyo del Cobre on the Abiquiu quadrangle is 47 m (155 ft) thick and is composed of arkosic conglomeratic beds interbedded with arkosic sands and siltstones. Clasts include, in descending order of abundance, Proterozoic quartzite, granite, metavolcanic rocks, quartz, schist, and gneiss and a trace of Mesozoic sandstone and Paleozoic chert. Clasts are predominantly of pebble and cobble size but range from granule to boulder size. Paleocurrent data collected in the Arroyo del Cobre area indicate that the Ritito Conglomerate was deposited by a south-flowing river system during the Oligocene, eroding Laramide highlands such as the Tusas Mountains to the northeast, which contain predominantly Proterozoic rocks. This depositional setting has also been suggested by previous workers. The middle member or Pedernal chert member is present both at the top of the Ritito Conglomerate and as lenses within the lower part of the Abiquiu Formation. This post-depositional diagenetic chert remains an informal unit called the Pedernal chert.

  16. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

    Science.gov (United States)

    Oji, Vinzenz; Tadini, Gianluca; Akiyama, Masashi; Blanchet Bardon, Claudine; Bodemer, Christine; Bourrat, Emmanuelle; Coudiere, Philippe; DiGiovanna, John J; Elias, Peter; Fischer, Judith; Fleckman, Philip; Gina, Michal; Harper, John; Hashimoto, Takashi; Hausser, Ingrid; Hennies, Hans Christian; Hohl, Daniel; Hovnanian, Alain; Ishida-Yamamoto, Akemi; Jacyk, Witold K; Leachman, Sancy; Leigh, Irene; Mazereeuw-Hautier, Juliette; Milstone, Leonard; Morice-Picard, Fanny; Paller, Amy S; Richard, Gabriele; Schmuth, Matthias; Shimizu, Hiroshi; Sprecher, Eli; Van Steensel, Maurice; Taïeb, Alain; Toro, Jorge R; Vabres, Pierre; Vahlquist, Anders; Williams, Mary; Traupe, Heiko

    2010-10-01

    Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. As more becomes known about these diseases in the future, modifications will be needed. We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research. Copyright © 2010 American Academy of Dermatology, Inc. All rights reserved.

  17. 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

  18. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 90; Issue 1. Identification of possible genetic polymorphisms involved in cancer cachexia: a systematic review. Benjamin H. L. Tan James A. Ross Stein Kaasa Frank Skorpen Kenneth C. H. Fearon European Palliative Care Research Collaborative. Review Article Volume 90 ...

  19. Genetic association studies in lumbar disc degeneration

    DEFF Research Database (Denmark)

    Eskola, Pasi J; Lemmelä, Susanna; Kjaer, Per

    2012-01-01

    Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans....

  20. 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.

  1. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  2. 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.

  3. 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 ...

  4. Mapping French terms in a Belgian guideline on heart failure to international classifications and nomenclatures: the devil is in the detail

    Directory of Open Access Journals (Sweden)

    Marc Jamoulle

    2014-11-01

    Full Text Available Introduction With growing sophistication of eHealth platforms, medical information is increasingly shared across patients, health care providers, institutions and across borders. This implies more stringent demands on the quality of data entry at the point-of-care. Non-native English-speaking general practitioners (GPs experience difficulties in interacting with international classification systems and nomenclatures to facilitate the secondary use of their data and to ensure semantic interoperability.Aim To identify words and phrases pertaining to the heart failure domain and to explore the difficulties in mapping to corresponding concepts in ICPC-2, ICD-10, SNOMED-CT and UMLS.Methods The medical concepts in a Belgian guideline for GPs in its French version were extracted manually and coded first in ICPC-2, then ICD-10 by a physician, an expert in classification systems. In addition, mappings were sought with SNOMED-CT and UMLS concepts, using the UMLS SNOMED-CT browser.Results We identified 143 words and phrases, of which 128 referred to a single concept (1-to-1 mapping, while 15 referred to two or more concepts (1-to-n mapping to ICPC rubrics or to the other nomenclatures. In the guideline, words or phrases were often too general for specific mapping to a code or term. Marked discrepancy between semantic tags and types was found.Conclusion This article shows the variability of the various international classifications and nomenclatures, the need for structured guidelines with more attention to precise wording and the need for classification expertise embedded in sophisticated terminological resources. End users need support to perform their clinical work in their own language, while still assuring standardised and semantic interoperable medical registration. Collaboration between computational linguists, knowledge engineers, health informaticians and domain experts is needed.

  5. 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.

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

    Science.gov (United States)

    Berrizbeitia, M Fernanda López; Sánchez, R Tatiana; Barquez, Ruben M; Díaz, M Monica

    2017-01-01

    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.

  7. The isolation and structure elucidation of new cassane diterpene-acids from Caesalpinia crista L. (Fabaceae), and review on the nomenclature of some Caesalpinia species.

    Science.gov (United States)

    Kinoshita, Takeshi; Haga, Yasuhiro; Narimatsu, Shintaro; Shimada, Motoko; Goda, Yukihiro

    2005-06-01

    New cassane diterpene-acids, neocaesalpins H and I, were isolated from the leaves of Caesalpinia crista (Fabaceae), and their structures were deduced on the basis of the spectroscopic and chemical basis. These compounds were characterized as having an alpha,beta-butenolide hemiacetal ring that is rare in nature. The lacking of 5-hydroxy group also distinguished neocaesalpins H and I from cassane diterpenes (caesalpins) occurring in other Caesalpinia species from the phytochemical viewpoint. The nomenclature of three Caesalpinia species was also reviewed, and it was found that some species belonging to the genus Caesalpinia are improperly named and should be changed to valid names.

  8. 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.

  9. [Intergenomic chromosome substitutions in wheat interspecific hybrids and their use in the development of a genetic nomenclature of Triticum timopheevii chromosomes].

    Science.gov (United States)

    Badaeva, E D; Budashkina, E B; Bilinskaia, E N; Pukhal'skiĭ, V A

    2010-07-01

    The results of analysis of the genome formation in interspecific hybrids of Triticum aestivum with T. timopheevii are reviewed. The spectra of substitutions and rearrangements are shown to depend on the genotypes of the parental forms and on the direction of selection. The frequencies of substitutions of individual T. timopheevii chromosomes significantly vary and reflect the level of their divergence relative to the common wheat chromosomes. Some aspects of classification of the A(t)- and G-genome chromosomes are discussed.

  10. Genetic barcodes

    Science.gov (United States)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  11. Systematic review

    DEFF Research Database (Denmark)

    Christensen, Troels Dreier; Spindler, Karen-Lise Garm; Palshof, Jesper Andreas

    2016-01-01

    Background: Brain metastases (BM) from colorectal cancer (CRC) are a rare event. However, the implications for affected patients are severe, and the incidence has been reported to be increasing. For clinicians, knowledge about the characteristics associated with BM is important and could lead...... 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...... of brain involvement in patients with these characteristics is necessary....

  12. Systematic review

    DEFF Research Database (Denmark)

    Borup, H; Kirkeskov, L; Hanskov, Dorte Jessing Agerby

    2017-01-01

    : To assess the occurrence of COPD among construction workers. Methods: We performed a systematic search in PubMed and Embase between 1 January 1990 and 31 August 2016 in order to identify epidemiological studies with a risk estimate for either COPD morbidity/mortality or a spirometry-based definition....... Conclusions: This review suggests that COPD occurs more often among construction workers than among workers who are not exposed to construction dust. It is not possible to draw any conclusions on specific subgroups as most studies analysed construction workers as one united group. In addition, no potential...

  13. 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

  14. Palynology, nomenclature and terminology

    NARCIS (Netherlands)

    Stafleu, Frans A.

    Some of the basic concepts common to plant taxonomy, palaeobotany and palynology are discussed such as “taxon”, “taxonomic categories”, “genus and species concepts”, as well as “organ and form genera”. The development of the specifically palaeobotanical and palynological concepts of organ and form

  15. Anorectal nomenclature: fundamental terminology.

    Science.gov (United States)

    Wendell-Smith, C P

    2000-10-01

    There is lack of agreement on the definitions of the anal canal and its parts. To facilitate mutual understanding and communication between workers, it is highly desirable that a set of agreed-upon definitions be developed. The development of the different definitions and their purposes is followed and they are analyzed. As a basis for discussion, a possible revised entry for the next edition of Terminologia Anatomica is presented. Draft definitions of the terms in the entry are provided. Practitioners are invited to become involved in the process of developing agreement on definitions by providing comments and criticism.

  16. Contemporary soaring nomenclature

    Science.gov (United States)

    Jenko, S. O.

    1979-01-01

    Considerable technical progress took place during the past two decades in the field of soaring. In contrast, basic terminology in many languages is lagging seriously. English, one of the leading languages, is no exception. Because of this situation, misunderstandings occur which under some circumstances may result in undesirable consequences, hindering further technical developments as well as soaring activities. Definitions were established and compiled by mid-1973, followed by minor additions (1974 and 1977).

  17. 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)

  18. The psychological impact of testing for thrombophilia: a systematic review

    NARCIS (Netherlands)

    Cohn, D. M.; Vansenne, F.; Kaptein, A. A.; de Borgie, C. A. J. M.; Middeldorp, S.

    2008-01-01

    BACKGROUND: Nowadays, large numbers of patients are tested for thrombophilia, even though the benefits of this strategy remain unclear. A potential disadvantage of this predominantly genetic testing is the psychological impact, including fear, depression and worry. OBJECTIVES: To systematically

  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 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.)

  1. 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.

  2. 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.

  3. Genomic cartography and proposal of nomenclature for the repeated, interspersed elements of the Leishmania major SIDER2 family and identification of SIDER2-containing transcripts.

    Science.gov (United States)

    Requena, Jose M; Rastrojo, Alberto; Garde, Esther; López, Manuel C; Thomas, M Carmen; Aguado, Begoña

    2017-03-01

    The genomes of most eukaryotic organisms contain a large number of transposable elements that are able to move from one genomic site to another either by transferring of DNA mobile elements (transposons) or transpose via reverse transcription of an RNA intermediate (retroposons). An exception to this rule is found in protists of the subgenus Leishmania, in which active retroposons degenerated after a flourishing era, leaving only retroposon remains; these have been classified into two families: SIDER1 and SIDER2. In this work, we have re-examined the elements belonging to the family SIDER2 present in the genome of Leishmania major with the aim of providing a nomenclature that will facilitate a future reference to particular elements. According to sequence conservation, the 1100 SIDER2 elements have been grouped into subfamilies, and the inferred taxonomic relationships have also been incorporated into the nomenclature. Additionally, we are providing detailed data regarding the genomic distribution of these elements and their association with specific transcripts, based on the recently established transcriptome for L. major. Thus, the presented data can help to study and better understand the roles played by these degenerated retroposons in both regulation of gene expression and genome plasticity. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. 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.

  5. A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature.

    Science.gov (United States)

    Kanada, Kimberly Natee; Merin, Melissa Reyes; Munden, Andrea; Friedlander, Sheila Fallon

    2012-08-01

    To provide incidence data based on ethnicity, prematurity, and body site for vascular, pigmented, and other common congenital cutaneous findings; to compare these results with previously published prospective studies; and to define updated nomenclature, classification, clinical course, and prognostic factors for the pediatric practitioner to promote a better understanding of benign versus more worrisome birthmarks. This prospective study enrolled 594 infants in San Diego, California. Cutaneous examination was performed by pediatric dermatologists in the first 48 hours of life, with subsequent longitudinal contact via telephone, and repeat evaluations if any new lesions were reported by parents. Incidence rates were calculated by ethnicity and prematurity status. The most common vascular lesion was nevus simplex (83%), followed by infantile hemangioma (4.5% by age 3 months), capillary malformation (0.3%), and rapidly involuting congenital hemangioma (0.3%). Pigmented lesions seen at birth included dermal melanocytosis (20%), congenital melanocytic nevi (2.4%), and café au lait macules (2%). Other common skin findings were erythema toxicum neonatorum (7%), milia (8%), and sebaceous gland hyperplasia (42.6%). This study of congenital cutaneous lesions, using current nomenclature and data acquired by pediatric cutaneous lesion experts, provides data regarding the role of race and ethnicity in the incidence of birthmarks, and provides valid data on the prevalence of infantile hemangioma. Copyright © 2012 Mosby, Inc. All rights reserved.

  6. 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)

  7. Genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Grefenstette, J.J.

    1994-12-31

    Genetic algorithms solve problems by using principles inspired by natural population genetics: They maintain a population of knowledge structures that represent candidate solutions, and then let that population evolve over time through competition and controlled variation. GAs are being applied to a wide range of optimization and learning problems in many domains.

  8. Genetic Counseling.

    Science.gov (United States)

    Exceptional Parent, 1987

    1987-01-01

    Information is presented on a number of tests used in genetic counseling (e.g., genetic evaluation, chromosome evaluation, consideration of multifactorial conditions, prenatal testing, and chorionic villus sampling) which help parents with one disabled child make family planning decisions. (CB)

  9. Genetic risk

    NARCIS (Netherlands)

    ten Kate, L.P.

    2012-01-01

    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it

  10. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... 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...

  11. 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

  12. Molecular research on the systematically challenging smoothhound ...

    African Journals Online (AJOL)

    From a series of molecular phylogenetic studies it can be inferred that the genus Mustelus is paraphyletic and that the aplacental species evolved secondarily from the placental species of the genus. The increasing availability of genetic data aids in disentangling systematic issues, such that more meaningful morphological ...

  13. 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....

  14. 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

  15. Genetic Discrimination

    Science.gov (United States)

    Skip to main content Genetic Discrimination Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions ...

  16. Genetic Testing

    Science.gov (United States)

    ... on to their children Screening embryos for disease Testing for genetic diseases in adults before they cause ... provide information about the pros and cons of testing. NIH: National Human Genome Research Institute

  17. 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 geograp....... These methodological developments and exemplar provide the basis for a new synthesis in health geography: genetic GIScience.......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...

  18. 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)

  19. Extending DFT-based genetic algorithms by atom-to-place re-assignment via perturbation theory: a systematic and unbiased approach to structures of mixed-metallic clusters.

    Science.gov (United States)

    Weigend, Florian

    2014-10-07

    Energy surfaces of metal clusters usually show a large variety of local minima. For homo-metallic species the energetically lowest can be found reliably with genetic algorithms, in combination with density functional theory without system-specific parameters. For mixed-metallic clusters this is much more difficult, as for a given arrangement of nuclei one has to find additionally the best of many possibilities of assigning different metal types to the individual positions. In the framework of electronic structure methods this second issue is treatable at comparably low cost at least for elements with similar atomic number by means of first-order perturbation theory, as shown previously [F. Weigend, C. Schrodt, and R. Ahlrichs, J. Chem. Phys. 121, 10380 (2004)]. In the present contribution the extension of a genetic algorithm with the re-assignment of atom types to atom sites is proposed and tested for the search of the global minima of PtHf12 and [LaPb7Bi7](4-). For both cases the (putative) global minimum is reliably found with the extended technique, which is not the case for the "pure" genetic algorithm.

  20. Extending DFT-based genetic algorithms by atom-to-place re-assignment via perturbation theory: A systematic and unbiased approach to structures of mixed-metallic clusters

    Energy Technology Data Exchange (ETDEWEB)

    Weigend, Florian, E-mail: florian.weigend@kit.edu [Institut für Physikalische Chemie, Abteilung für Theoretische Chemie, Karlsruher Institut für Technologie, Fritz-Haber-Weg 2, 76131 Karlsruhe, Germany and Institut für Nanotechnologie, Karlsruher Institut für Technologie, Hermann-von-Helmholtz-Platz 1, 76344 Eggenstein-Leopoldshafen (Germany)

    2014-10-07

    Energy surfaces of metal clusters usually show a large variety of local minima. For homo-metallic species the energetically lowest can be found reliably with genetic algorithms, in combination with density functional theory without system-specific parameters. For mixed-metallic clusters this is much more difficult, as for a given arrangement of nuclei one has to find additionally the best of many possibilities of assigning different metal types to the individual positions. In the framework of electronic structure methods this second issue is treatable at comparably low cost at least for elements with similar atomic number by means of first-order perturbation theory, as shown previously [F. Weigend, C. Schrodt, and R. Ahlrichs, J. Chem. Phys. 121, 10380 (2004)]. In the present contribution the extension of a genetic algorithm with the re-assignment of atom types to atom sites is proposed and tested for the search of the global minima of PtHf{sub 12} and [LaPb{sub 7}Bi{sub 7}]{sup 4−}. For both cases the (putative) global minimum is reliably found with the extended technique, which is not the case for the “pure” genetic algorithm.

  1. 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

  2. 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.

  3. 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 ...

  4. J. Genet. classic 125

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 2, August 2004. 125. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 126. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 127. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 128. Page 5. J. Genet. classic.

  5. 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.

  6. 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

    2014-11-24

    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.

  7. 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

  8. 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.

  9. "Official View" on Glucocorticoids in Rheumatoid Arthritis: A Systematic Review of International Guidelines and Consensus Statements.

    Science.gov (United States)

    Palmowski, Yannick; Buttgereit, Thomas; Dejaco, Christian; Bijlsma, Johannes W; Matteson, Eric L; Voshaar, Marieke; Boers, Maarten; Buttgereit, Frank

    2017-08-01

    To describe the perception of the current role of systemic glucocorticoids in the management of rheumatoid arthritis (RA) by examining their importance and the current level of evidence in recent guidelines, and to identify open questions to be addressed in future guidelines and research projects. We conducted a systematic literature review using the databases Ovid Embase, PubMed Medline, and Cochrane Library for guidelines on the pharmacologic treatment of RA. Retrieved articles were evaluated regarding their quality using the Appraisal of Guidelines for Research and Evaluation II tool and scrutinized for all relevant information concerning the use of glucocorticoids. All guidelines agree that glucocorticoids, especially if given at low doses and for a short duration, are an appropriate option in the treatment of RA. However, many recommendations remain vague, as reliable and detailed evidence is scarce. Important aspects of glucocorticoid therapy are partially or completely neglected, and the existing nomenclature is not used uniformly. Quality evaluation revealed flaws in many articles, concerning not only glucocorticoid-specific recommendations but also guideline quality in general. Current recommendations for use of glucocorticoids in the management of RA are suboptimal. More rigorous evaluation of doses, timing, and duration of their use is needed. Existing nomenclature on glucocorticoid therapy should be used uniformly. © 2016, American College of Rheumatology.

  10. Taxonomical and nomenclatural notes on Centaurea: A proposal of classification, a description of new sections and subsections, and a species list of the redefined section Centaurea

    Directory of Open Access Journals (Sweden)

    Hilpold, A.

    2014-12-01

    Full Text Available In this paper, we summarize the results of our long-date research on the genus Centaurea. The first part of the paper deals with the overall classification of the genus, which we propose to divide into three subgenera: subgenus Centaurea, subgenus Cyanus and subgenus Lopholoma. The second part of this publication gives a recopilation of the species of the redefined section Centaurea, a group that includes former sections Acrolophus (sect. Centaurea s. str., Phalolepis and Willkommia, together with taxonomical, geographical, ecological and karyological considerations. Finally, new descriptions or nomenclatural combinations are proposed to correlate nomenclature to the new classification: a new combination (sect. Acrocentron subsect. Chamaecyanus is proposed in subgenus Lopholoma; three new sections (sects. Akamantis, Cnicus, and Hyerapolitanae are described in subgenus Centaurea; two subsections (subsects. Phalolepis and Willkommia in sect. Centaurea; and three subsections (subsects. Exarata, Jacea, and Subtilis in sect. Phrygia.En este trabajo presentamos los resultados de nuestras investigaciones de larga fecha en el género Centaurea. La primera parte del trabajo trata de la clasificación del género, que proponemos dividir en tres subgéneros: subgénero Centaurea, subgénero Cyanus y subgénero Lopholoma. La segunda parte es una recopilación de las especies de la redefinida sección Centaurea, que incluye las antiguas secciones Acrolophus (sect. Centaurea s. str., Phalolepis y Willkommia, junto con consideraciones geográficas, ecológicas y cariológicas. Por último, proponemos nuevas secciones, subsecciones y combinaciones para correlacionar nomenclatura y clasificación: proponemos una nueva (sect. Acrocentron subsect. Chamaecyanus en el subgénero Lopholoma; se describen tres secciones nuevas (sects. Akamantis, Cnicus y Hyerapolitanae en el subgénero Centaurea; dos subsecciones (subsects. Phalolepis and Willkommia en la secci

  11. 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.

  12. 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.

  13. 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

  14. 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

  15. 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.)

  16. 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)

  17. 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...

  18. 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 ...

  19. 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

  20. J. Genet. classic 9

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 88, No. 1, April 2009. 9. Page 2. J. Genet. classic. 10. Journal of Genetics, Vol. 88, No. 1, April 2009. Page 3. J. Genet. classic. Journal of Genetics, Vol. 88, No. 1, April 2009. 11. Page 4. J. Genet. classic. 12. Journal of Genetics, Vol. 88, No. 1, April 2009. Page 5. J. Genet. classic. Journal of Genetics ...

  1. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... FAQs Prenatal Genetic Screening Tests Page Navigation ▼ ACOG Pregnancy Book Prenatal Genetic Screening Tests Patient Education FAQs Prenatal Genetic Screening Tests Patient Education Pamphlets - ...

  2. Genetic mental services for retardation patients with severe - The ...

    African Journals Online (AJOL)

    In South Africa mental retardation is still ill-defined as regards the aetiology and general epidemiology. A systematic diagnostic/genetics programme implemented at various institutions for the mentally retarded within the framework of a comprehensive genetic service is described. The progress made is reported and the ...

  3. 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

  4. Genetic Prediction.

    Science.gov (United States)

    Turkheimer, Eric

    2015-01-01

    The fundamental reason that the genetics of behavior has remained so controversial for so long is that the layer of theory between data and their interpretation is thicker and more opaque than in more established areas of science. The finding that variations in tiny snippets of DNA have small but detectable relations to variation in behavior surprises no one, at least no one who was paying attention to the twin studies. How such snippets of DNA are related to differences in behavior-known as the gene-to-behavior pathway-is the great theoretical problem of modern behavioral genetics. Given that intentional human breeding is a horrific prospect, what kind of technology might we want (or fear) out of human behavioral genetics? One possibility is a technology that could predict important behavioral characteristics of humans based on their genomes alone. A moment's thought suggests significant benefits and risks that might be associated with such a possibility, but for the moment, just consider how convincing it would be if on the day of a baby's birth we could make meaningful predictions about whether he or she would become a concert pianist or an alcoholic. This article will consider where we are right now as regards that possibility, using human height and intelligence as the primary examples. © 2015 The Hastings Center.

  5. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... improve by early childhood; and episodes of abnormally high amounts of lactic acid in the blood (lactic acidosis). The life expectancy of individuals ... deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four ... feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov; ...

  6. 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, ...

  7. 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...

  8. 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....

  9. 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.

  10. From rumors to genetic isolates

    Directory of Open Access Journals (Sweden)

    Eduardo E. Castilla

    2014-01-01

    Full Text Available Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados, operating in Brazil since 2009. During the first four years of its existence (2009-2013, a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74-2.54 per 10(6 than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191 of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy.

  11. From rumors to genetic isolates

    Science.gov (United States)

    Castilla, Eduardo E.; Schuler-Faccini, Lavinia

    2014-01-01

    Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009–2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74–2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy). PMID:24764753

  12. Perezia Microsporidia vs. Perezia Viridiplantae: Homonymy under the ICN with comments on jurisdiction of the ICN or ICZN over nomenclature of the Microsporidia and a brief discussion of this microsporidian genus and its species.

    Science.gov (United States)

    Boyko, Christopher B

    2012-11-01

    Until recently, the taxon PereziaLéger and Duboscq (1909) (Fungi: Microsporidia) (non-La Gasca, 1811, Viridiplantae: Asteraceae) was a preoccupied name because both it and its senior homonym were regulated under the International Code of Nomenclature of Algae, Fungi, and Plants. This meant that the microsporidian genus name required replacement, as did Pereziidae Loubes [sic], Loubes et al. (1977), as that name was based on a homonymous genus name and therefore illegitimate. However, a recent decision by the ICN to return microsporidians to the auspices of the International Code of Zoological Nomenclature removes this homonymy, but causes a potential problem because current language of the ICZN is not written in a way that allows microsporidians to return to its jurisdiction. Language in the ICZN requires modification in order to avoid microsporidians becoming "code orphans." The species of Perezia Léger and Duboscq are reviewed. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. 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.

  14. 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.

  15. Impact of ABCB1 and CYP2B6 Genetic Polymorphisms on Methadone Metabolism, Dose and Treatment Response in Patients with Opioid Addiction: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Dennis, Brittany B.; Bawor, Monica; Thabane, Lehana; Sohani, Zahra; Samaan, Zainab

    2014-01-01

    Background Genetic variability may influence methadone metabolism, dose requirements, and risk of relapse. Objectives To determine whether the CYP2B6*6 or ABCB1 (rs1045642) polymorphisms are associated with variation in methadone response (plasma concentration, dose, or response to treatment). Methods Two independent reviewers searched Medline, EMBASE, CINAHL, PsycINFO, and Web of Science databases. We included studies that reported methadone plasma concentration, methadone response, or methadone dose in relation to the CYP2B6*6 or ABCB1 polymorphisms. Results We screened 182 articles and extracted 7 articles for inclusion in the meta-analysis. Considerable agreement was observed between the two independent raters on the title (kappa, 0.82), abstract (kappa, 0.43), and full text screening (kappa, 0.43). Trough (R) methadone plasma concentration was significantly higher in CYP2B6*6 homozygous carriers when compared to non-carriers (standardized mean difference [SMD] = 0.53, 95% confidence interval [CI], 0.05–1.00, p = 0.03) with minimal heterogeneity (I2 = 0%). Similarly, trough (S) methadone plasma concentration was higher in homozygous carriers of the *6 haplotype when compared to non-carriers, (SMD = 1.44, 95% CI 0.27–2.61, p = 0.02) however significant heterogeneity was observed (I2 = 69%). Carriers of the CYP2B6*6 haplotype were not found to be significantly different from non-carriers with respect to dose or response to treatment. We found no significant association between the ABCB1 polymorphism and the trough (R), (S) plasma concentrations, methadone dose, or methadone response. Conclusion Although the number of studies included and sample size were modest, this is the first meta analysis to show participants homozygous for the CYP2B6*6 genotype have higher trough (R) and (S) methadone plasma concentrations, suggesting that methadone metabolism is significantly slower in *6 homozygous carriers. PMID:24489693

  16. Similarities and Differences in Genetics.

    Science.gov (United States)

    Zhang, Yang; Sun, Yan; Liang, Jie; Lu, Lin; Shi, Jie

    2017-01-01

    Similar symptomatology manifestations and high co-morbidity in substance and non-substance addictions suggest that there may be a common pathogenesis between them. Associated with impulse control and emotional processing, the monoamine neurotransmitter system genes are suggested to be related to both substance and non-substance addictions, such as dopamine (DA) system, 5-hydroxytryptamine/serotonin (5-HT) system, the endogenous opioid system and so on. Here we reviewed the similarities and differences in genetics between classic substance addiction and common types of non-substance addiction, e.g. pathological gambling, Internet addiction, binge-eating disorder etc. It is necessary to systematically compare genetic mechanisms of non-substance addiction and substance addiction, which could reveal similarities and differences of substance addiction and non-addictive substances essentially, enhance our understanding of addiction theory and improve clinical practice with research results.

  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. 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.)

  19. Estimating maize genetic erosion in modernized smallholder agriculture.

    Science.gov (United States)

    van Heerwaarden, Joost; Hellin, J; Visser, R F; van Eeuwijk, F A

    2009-09-01

    Replacement of crop landraces by modern varieties is thought to cause diversity loss. We studied genetic erosion in maize within a model system; modernized smallholder agriculture in southern Mexico. The local seed supply was described through interviews and in situ seed collection. In spite of the dominance of commercial seed, the informal seed system was found to persist. True landraces were rare and most informal seed was derived from modern varieties (creolized). Seed lots were characterized for agronomical traits and molecular markers. We avoided the problem of non-consistent nomenclature by taking individual seed lots as the basis for diversity inference. We defined diversity as the weighted average distance between seed lots. Diversity was calculated for subsets of the seed supply to assess the impact of replacing traditional landraces with any of these subsets. Results were different for molecular markers, ear- and vegetative/flowering traits. Nonetheless, creolized varieties showed low diversity for all traits. These varieties were distinct from traditional landraces and little differentiated from their ancestral stocks. Although adoption of creolized maize into the informal seed system has lowered diversity as compared to traditional landraces, genetic erosion was moderated by the distinct features offered by modern varieties.

  20. 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...

  1. 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

  2. Cryopreservation for preservation of potato genetic resources

    Science.gov (United States)

    Niino, Takao; Arizaga, Miriam Valle

    2015-01-01

    Cryopreservation is becoming a very important tool for the long-term storage of plant genetic resources and efficient cryopreservation protocols have been developed for a large number of plant species. Practical procedures, developed using in vitro tissue culture, can be a simple and reliable preservation option of potato genetic resources rather than maintaining by vegetative propagation in genebanks due their allogamous nature. Cryopreserved materials insure a long-term backup of field collections against loss of plant germplasm. Occurrence of genetic variation, in tissue culture cells during prolonged subcultures, can be avoided with suitable cryopreservation protocols that provide high regrowth, leading and facilitating a systematic and strategic cryo-banking of plant genetic resources. Cryopreservation protocols for potato reviewed here, can efficiently complement field and in vitro conservation, providing for preservation of genotypes difficult to preserve by other methods, wild types and other species decided as priority collections. PMID:25931979

  3. The Modified Arch Landing Areas Nomenclature (MALAN) Improves Prediction of Stent Graft Displacement Forces: Proof of Concept by Computational Fluid Dynamics Modelling.

    Science.gov (United States)

    Marrocco-Trischitta, Massimiliano M; van Bakel, Theodorus M; Romarowski, Rodrigo M; de Beaufort, Hector W; Conti, Michele; van Herwaarden, Joost A; Moll, Frans L; Auricchio, Ferdinando; Trimarchi, Santi

    2018-02-06

    To assess whether the Modified Arch Landing Areas Nomenclature (MALAN), which merges Ishimaru's map with the Aortic Arch Classification, predicts the magnitude of displacement forces and their orientation in proximal landing zones for TEVAR. Computational fluid dynamic (CFD) modelling was employed to prove the hypothesis. Healthy aorta CT angiography scans were selected based on aortic arch geometry to reflect Types I to III arches equally (each n = 5). CFDs were used to compute pulsatile displacement forces along the Ishimaru's landing zones in each aorta including their three dimensional orientation along the upward component and sideways component. Values were normalised to the corresponding aortic wall area to calculate equivalent surface traction (EST). In Types I and II arches, EST did not change across proximal landing zones (p = .297 and p = .054, respectively), whereas in Type III, EST increased towards more distal landing zones (p = .019). Comparison of EST between adjacent zones, however, showed that EST was greater in 3/II than in 2/II (p = .016), and in 3/III than in 2/III (p = .016). Notably, these differences were related to the upward component, that was four times greater in 3/II compared with 2/II (p < .001), and five times greater in 3/III compared with 2/III (p < .001). CFD modelling suggests that MALAN improves discrimination of expected displacement forces in proximal landing zones for TEVAR, which might influence clinical outcomes. The clinical relevance of the finding, however, remains to be validated in a dedicated post-operative outcome analysis of patients treated by TEVAR of the arch. Copyright © 2017 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  4. 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

  5. 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.

  6. 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 ...

  7. 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....

  8. 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

  9. THE SYSTEMATICS OF SOUTHERN AFRICAN MAMMALS Getting ...

    African Journals Online (AJOL)

    I would recommend, then, that the trinomial or binomial should be used according to the needs of the situ.tion. Nomenclature should be the taxonomist's servant, not his master. This leads me on to the question of splitting and lumping, and here again it seems that it is often forgotten just what the purpose of classification is.

  10. 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....

  11. Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

    Science.gov (United States)

    Verbeek, Dineke S; Gasser, Thomas

    2016-01-01

    Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression.

  12. [Classification of Histopathological Findings in the Liver Cited in the Pesticides Risk Assessment Reports Published by the Food Safety Commission of Japan and Thesaurus Construction Based on the International Harmonization of Nomenclature and Diagnostic (INHAND) Criteria].

    Science.gov (United States)

    Inoue, Kaoru; Takahashi, Miwa; Umemura, Takashi; Yoshida, Midori

    2015-01-01

    Histopathological findings are important to the understanding of toxicity profiles of pesticides. The liver is often a target organ of chemicals. In the present study, histopathological findings in the liver cited in the pesticides risk assessment reports published by the Food Safety Commission of Japan were classified. The histopathological findings were obtained in repeated-dose 90-day oral toxicity studies of mice, rats and dogs and carcinogenicity studies of rodents. After the classification, a thesaurus was constructed based on the International Harmonization of Nomenclature and Diagnostic (INHAND) Criteria. We recommend the use of INHAND criteria in risk assessment reports to improve mutual understanding between applicants and risk assessors.

  13. 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.

  14. 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...

  15. Physicians' knowledge of genetics and genetic tests.

    Science.gov (United States)

    Hofman, K J; Tambor, E S; Chase, G A; Geller, G; Faden, R R; Holtzman, N A

    1993-08-01

    To assess primary care physicians' and psychiatrists' knowledge of genetics and genetic tests and the factors associated with differences in these physicians' knowledge. Questionnaires were mailed in 1991 to 1,795 primary care physicians (family physicians, internists, pediatricians, obstetrician-gynecologists) and psychiatrists who had graduated from medical school between 1950 and 1985 (67.6% of the sample had graduated after 1970) and who were members of professional societies. The questions elicited demographic and practice characteristics as well as knowledge of genetics concepts and facts and awareness of the availability of genetic tests. To validate the questionnaire, 360 medical geneticists and genetic counselors received questionnaires. Statistical analysis involved arc-sine function transformation, t-tests, analyses of variance, F-tests, Tukey's HSD, and stepwise multiple regression. A total of 1,140 (64.8%) of the non-geneticist physicians responded. They correctly answered an average of 73.9%, SD, 13.9%, of the knowledge items, compared with 94.6%, SD, 4.2%, for the genetics professionals (p < .001). The most significant predictors of knowledge were recency of graduation from medical school and practicing in primary care specialties in which exposure to genetics problems is likely. Other significant predictors (from most to least important) were graduation from a U.S. medical school, willingness to adopt a new predictive test before it becomes standard practice, not using pharmaceutical companies as a source of information about new medical practices, and taking a required genetics course in medical school. The results suggest that knowledge of genetics and genetic tests is increasing among physicians, particularly among more recent graduates and physicians who are exposed to genetics problems in their practices, but deficiencies remain. Although a medical school course in genetics may improve knowledge, it is not sufficient. Greater emphasis is needed

  16. 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

  17. 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 from...

  18. Whole-genome and Transcriptome Sequencing of Prostate Cancer Identify New Genetic Alterations Driving Disease Progression

    DEFF Research Database (Denmark)

    Ren, Shancheng; Wei, Gong-Hong; Liu, Dongbing

    2018-01-01

    BACKGROUND: Global disparities in prostate cancer (PCa) incidence highlight the urgent need to identify genomic abnormalities in prostate tumors in different ethnic populations including Asian men. OBJECTIVE: To systematically explore the genomic complexity and define disease-driven genetic alter...

  19. 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

  20. 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 ...

  1. Nomenclatural alterations in Microlicieae (Melastomataceae)

    OpenAIRE

    Koschnitzke, C; Martins, AB

    2007-01-01

    With the recent taxonomic review of Chaetastoma DC., it was found that six species did not present the set of diagnostic features established to delimit the genus. Chaetastoma is characterized by sessile, keeled to subkeeled, overlapping, acute leaves and a trichome crown on the external apex of the length of the hypanthium. Three species of Chaetostoma are transferred to Microlicia D. Don: M. acuminata Naudin (C. acuminatum (Naudin) Cogniaux), M. castrata Naudin (C. castratum (Naudin) Cognia...

  2. On the runtime analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2014-01-01

    For many years it has been a challenge to analyze the time complexity of Genetic Algorithms (GAs) using stochastic selection together with crossover and mutation. This paper presents a rigorous runtime analysis of the well-known Simple Genetic Algorithm (SGA) for OneMax. It is proved that the SGA...... for a standard benchmark function. The presented techniques might serve as a first basis towards systematic runtime analyses of GAs....

  3. On the Analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2012-01-01

    For many years it has been a challenge to analyze the time complexity of Genetic Algorithms (GAs) using stochastic selection together with crossover and mutation. This paper presents a rigorous runtime analysis of the well-known Simple Genetic Algorithm (SGA) for OneMax. It is proved that the SGA...... benchmark function. The presented techniques might serve as a first basis towards systematic runtime analyses of GAs....

  4. Systematic literature review

    DEFF Research Database (Denmark)

    Barnard, K. D.; Lloyd, C. E.; Skinner, T. C.

    2007-01-01

    Aim: To review systematically the published literature addressing whether continuous subcutaneous insulin infusion (CSII) provides any quality of life benefits to people with Type 1 diabetes. Methods: Electronic databases and published references were searched and a consultation with two professi...

  5. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran

    2013-01-01

    Full Text Available During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.

  6. 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

  7. Genetic engineering compared to natural genetic variations.

    Science.gov (United States)

    Arber, Werner

    2010-11-30

    By comparing strategies of genetic alterations introduced in genetic engineering with spontaneously occurring genetic variation, we have come to conclude that both processes depend on several distinct and specific molecular mechanisms. These mechanisms can be attributed, with regard to their evolutionary impact, to three different strategies of genetic variation. These are local nucleotide sequence changes, intragenomic rearrangement of DNA segments and the acquisition of a foreign DNA segment by horizontal gene transfer. Both the strategies followed in genetic engineering and the amounts of DNA sequences thereby involved are identical to, or at least very comparable with, those involved in natural genetic variation. Therefore, conjectural risks of genetic engineering must be of the same order as those for natural biological evolution and for conventional breeding methods. These risks are known to be quite low. There is no scientific reason to assume special long-term risks for GM crops. For future agricultural developments, a road map is designed that can be expected to lead, by a combination of genetic engineering and conventional plant breeding, to crops that can insure food security and eliminate malnutrition and hunger for the entire human population on our planet. Public-private partnerships should be formed with the mission to reach the set goals in the coming decades. Copyright © 2010 Elsevier B.V. All rights reserved.

  8. 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...

  9. 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...

  10. ZooKeys, unlocking Earth’s incredible biodiversity and building a sustainable bridge into the public domain: From “print-based” to “web-based” taxonomy, systematics, and natural history. ZooKeys Editorial Opening Paper

    Directory of Open Access Journals (Sweden)

    Lyubomir Penev

    2008-07-01

    Full Text Available Publishing taxonomic and systematics studies in the digital era faces major challenges and requires new approaches, many of which are currently stimulating spirited discussions amongst taxonomists and systematists. New amendments to the International Code of Zoological Nomenclature are expected to regulate electronic publishing of new taxa and create a standard form for their registration (ZooBank. Responding to a perceived need, this editorial announces establishment of ZooKeys – a new online and print journal in zoological taxonomy and systematics, which aims to quickly respond and adapt to the newest developments in taxonomic publishing. Open Access is accepted as mandatory for ZooKeys. Th e rationale for and concept of ZooKeys is discussed in detail.

  11. Genetic Testing for ALS

    Science.gov (United States)

    ... In Your Community Advocate Get Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor Familial ALS Most of the time ALS is not inherited. ...

  12. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG Prenatal Genetic Testing Chart (Infographic) Home For Patients Search FAQs Prenatal Genetic Testing Chart (Infographic) PFSI010 ››› Weeks 1–4 ...

  13. Genetics Home Reference: trimethylaminuria

    Science.gov (United States)

    ... life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of ... information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  14. Regulation of Genetic Tests

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  15. 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)

  16. 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 ...

  17. 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 ...

  18. 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...

  19. Genetics and the Brain

    Science.gov (United States)

    ... Find us on YouTube Follow us on Instagram Genetics and the Brain by Carl Sherman September 10, ... effects that may be responsible. How Much Is Genetic? [x] , [xi] , [xii] , [xiii] A basic question in ...

  20. 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 ...