Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening for the Cys282Tyr HFE mutation was offered to individuals in the workplace. Outcomes were assessed by questionnaires before and after testing. 11307 individuals were screened. We recorded no increase in anxiety. in individuals who were homozygous for the Cys282Tyr mutation or non-homozygous. Self-reported tiredness before testing was significantly higher in homozygous participants than in non-homozygous participants (chi(2) test, p=0.029). Of the 47 homozygous individuals identified, 46 have taken steps to treat or prevent iron accumulation. Population genetic screening for HFE-associated hereditary haemochromatosis can be practicable and acceptable.

Localization of immunoreactivity for deleted in colorectal cancer (DCC), the receptor for the guidance factor netrin-1, in ventral tier dopamine projection pathways in adult rodents

DCC (deleted in colorectal cancer)-the receptor of the netrin-1 neuronal guidance factor-is expressed and is active in the central nervous system (CNS) during development, but is down-regulated during maturation. The substantia nigra contains the highest level of netrin-1 mRNA in the adult rodent brain, and corresponding mRNA for DCC has also been detected in this region but has not been localized to any particular neuron type. In this study, an antibody raised against DCC was used to determine if the protein was expressed by adult dopamine neurons, and identify their distribution and projections. Significant DCC-immunoreactivity was detected in midbrain, where it was localized to ventrally displaced A9 dopamine neurons in the substantia nigra, and ventromedial A10 dopamine neurons predominantly situated in and around the interfascicular nucleus. Strong immunoreactivity was not detected in dopamine neurons found elsewhere, or in non-dopamine-containing neurons in the midbrain. Terminal fields selectively labeled with DCC antibody corresponded to known nigrostriatal projections to the dorsolateral striatal patches and dorsomedial shell of the accumbens, and were also detected in prefrontal cortex, septum, lateral habenular and ventral pallidum. The unique distribution of DCC-immunoreactivity in adult ventral midbrain dopamine neurons suggests that netrin-1/DCC signaling could function in plasticity and remodeling previously identified in dopamine projection pathways. In particular, a recent report that DCC is regulated through the ubiquitin-proteosome system via Siah/Sina proteins, is consistent with a potential involvement in genetic and sporadic forms of Parkinson's disease. (c) 2005 IBRO. Published by Elsevier Ltd. All rights reserved.

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism

Objective To determine the long-term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis. Methods A retrospective cohort study was performed comparing 36 children in whom CPM had been diagnosed prenatally with 195 controls subjects in whom a normal karyotype had been detected prenatally. Data comprising birth information, health, health service utilisation, growth, development, behaviour, and the family were collected by a maternal questionnaire administered when the subjects were aged between 4 and 11 years. Results CPM cases did not differ from controls across a broad range of health measures and there were no major health problems or birth defects among the CPM group. No increase was detected in the incidence of intrauterine growth retardation (IUGR) among CPM cases; however, postnatal growth was reduced compared with controls (p = 0.047). Development and behaviour in CPM cases was similar to that of controls. Conclusions The prenatal diagnosis of CPM is not associated with an increased risk of birth defects or developmental problems, but may be associated with decreased growth. Copyright (C) 2006 John Wiley & Sons, Ltd.

Host-specificity of monogenean (platyhelminth) parasites: a role for anterior adhesive areas?

Monogeneans (flatworms) are among the most host-specific of parasites in general and may be the most host-specific of all fish parasites. Specificity, in terms of a restricted spatial distribution within an environment, is not unique to parasites and is displayed by some fungi, insects, birds, symbionts and pelagic larvae of free-living marine invertebrates. The nature of cues, how habitats are recognised and how interactions between partners are mediated and maintained is of interest across these diverse associations. We review some experiments that demonstrate important factors that contribute to host-specificity at the level of infective stages (larvae of oviparous monogeneans; juveniles of viviparous gyrodactylids) and adult parasites. Recent research on immune responses by fish to monogenean infections is considered. We emphasise the critical importance of host epidermis to the Monogenea. Monogeneans live on host epidermis, they live in its products (e.g. mucus), monopisthocotyleans feed on it, some of its products are attractants and it may be an inhospitable surface because of its immunological activity. We focus attention on fish but reference is made to amphibian hosts. We develop the concept for a potential role in host-speciality by the anterior adhesive areas, either the specialised tegument and/or anterior secretions produced by monogeneans for temporary but firm attachment during locomotion on host epithelial surfaces. Initial contact between the anterior adhesive areas of infective stages and host epidermis may serve two important purposes. (1) Appropriate sense organs or receptors on the parasite interact with a specific chemical or chemicals or with surface structures on host epidermis. (2) A specific but instant recognition or reaction occurs between component(s) of host mucus and the adhesive(s) secreted by monogeneans. The chemical composition of fish skin is known to be species-specific and our preliminary analysis of the chemistry of some monogenean adhesives indicates they are novel proteins that display some differences between parasite families and species. (C) 2000 Australian Society for Parasitology Inc. Published by Elsevier Science Ltd. All rights reserved.

Punching shear of slab-column connection in flat plate construction

The flat plate system is currently widely used in construction. It permits architectural flexibility, more clear space, less building height, easier formwork, and shorter construction time. However, there remains the problem of brittle punching failure due to the transfer of shearing forces and unbalanced moments at the flat plate-column connection. It is the purpose of this paper to investigate the effects of various interdependent factors that govern the punching shear resistance and behaviour of the flat plate-column connection, as well as their inclusion in current Codes.

PALANQUE DE PAPEL: O DISCURSO POLÍTICO DOS JORNAIS EVANGÉLICOS BRASILEIROS NO PERÍODO DA REPÚBLICA VELHA

O protestantismo brasileiro, desde as suas origens na segunda metade do século XIX, é identificado pela leitura e pela palavra. Esta pesquisa ocupa-se desse universo, especificamente da palavra impressa, tal como se encontra nos jornais das diversas denominações protestantes. Os jornais denominacionais são um meio de comunicação importante tanto como suporte de ideologias como também para sua derrubada. Dessa forma, este trabalho toma como objeto de estudo o discurso sobre temas políticos e sociais presentes nos editoriais e textos impressos nas páginas de jornais evangélicos brasileiros com relação aos acontecimentos que marcaram a passagem do sistema monárquico ao sistema republicano de governo no Brasil. Assim, as fontes primárias utilizadas são os jornais protestantes do final do século XIX e início do XX, a saber: Imprensa Evangélica, O Estandarte, O Jornal Batista e o Expositor Cristão, respectivamente: presbiteriano, batista e metodista. A questão formulada se expressa nos seguintes termos: Em que medida os evangélicos, por meio do discurso impresso em seus jornais, expressaram a sua posição política? A fundamentação teórica utilizada vale-se do conceito de atos retóricos, formulado por de Tereza Halliday, aplicando-o na compreensão do discurso dos missionários, dos pastores e das igrejas. Segundo essa teoria, a palavra ou o discurso são sempre utilizados para acusar ou defender, criticar ou enaltecer, explicar, propor ou justificar realidades conhecidas, isto porque somos seres retóricos, usamos a linguagem como instrumento de mudança ou reforço de percepções, sentimentos, valores, posicionamentos e ações. Entendendo que a transição da Monarquia para a República no Brasil gerou conflitos, a pesquisa vai procurar, por meio do instrumental da análise de discurso, perceber em que medida a imprensa protestante retratou aqueles acontecimentos. Para tanto, tomando-se as fontes primárias, realizou-se leitura e seleção de textos de acordo com a pertinência ao objetivo proposto. Este material foi organizado e submetido à análise de discurso a partir de categorias a priori. Analisado como fenômeno relativo ao campo das Ciências Sociais, observarmos o discurso impresso dos protestantes, suas ideologias de sustentação, seu imaginário e suas representações da sociedade brasileira e evangélica.(AU)

Collocations

J R Firth first gave prominence to collacation in linguistic theory. Halliday, Sinclair, Stubbs, and Hoey have all extended Firth's ideas. Palmer and Hornby recognized the pedagogical value of collocation, and incorporated it into their early EFL dictionaries. More recent EFL dictionaries, based on large, computerized language corpora, have used complex software and statistical measures to gain further insights into the way that collocational patterns are woven into language, and the results are visible in the dictionary entries of later editions. This has fed back into language pedagogy, and is also influencing translation and computational research. © 2006 Elsevier Ltd. All rights reserved.

English collocation studies:the OSTI report

This is the first published edition of John Sinclair, Susan Jones and Robert Daley's research on collocation undertaken in 1970. The unpublished report was circulated amongst a small group of academics and was enormously influential, sparking a growth of interest in collocation amongst researchers in linguistics. Collocation was first viewed as important in computational linguistics in the work of Harold Palmer in Japan. Later M.A.K. Halliday and John Sinclair published on collocation in the 1960s. English Collocation Studies is a report on empirical research into collocation, devised by Halliday with Sinclair acting as the Principal Investigator and editor of the resultant OSTI report. The present edition contains an introduction by Professor Wolfgang Teubert based on his interview with John Sinclair. The introduction assesses the extent to which the findings of the original research have developed in the intervening years, and how some of the techniques mentioned in the report were implemented in the COBUILD project at Birmingham University in the 1980s.

A linguistic and semantic approach to the theory and practice of literary translation

This work explores the relevance of semantic and linguistic description to translation, theory and practice. It is aimed towards a practical model of approach to texts to translate. As literary texts [poetry mainly] are the focus of attention, so are stylistic matters. Note, however, that 'style', and, to some extent, the conclusions of the work, are not limited to so-called literary texts. The study of semantic description reveals that most translation problems do not stem from the cognitive (langue-related), but rather from the contextual (parole-related) aspects of meaning. Thus, any linguistic model that fails to account for the latter is bound to fall short. T.G.G. does, whereas Systemics, concerned with both the 'Iangue' and 'parole' (stylistic and sociolinguistic mainly) aspects of meaning, provides a useful framework of approach to texts to translate. Two essential semantic principles for translation are: that meaning is the property of a language (Firth); and the 'relativity of meaning assignments' (Tymoczko). Both imply that meaning can only be assessed, correctly, in the relevant socio-cultural background. Translation is seen as a restricted creation, and the translator's encroach as a three-dimensional critical one. To encompass the most technical to the most literary text, and account for variations in emphasis in any text, translation theory must be based on typology of function Halliday's ideational, interpersonal and textual, or, Buhler's symbol, signal, symptom, Functions3. Function Coverall and specific] will dictate aims and method, and also provide the critic with criteria to assess translation Faithfulness. Translation can never be reduced to purely objective methods, however. Intuitive procedures intervene, in textual interpretation and analysis, in the choice of equivalents, and in the reception of a translation. Ultimately, translation, theory and practice, may perhaps constitute the touchstone as regards the validity of linguistic and semantic theories.