991 resultados para Late-emerging genotype


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In discussing the ideology of social inclusion, this paper demonstrates that the composition of community groups in a period of late modernity is worthy of consideration. Although it would appear, on the surface at least, that previously stable community institutions, such as family, organised religion, trade unions, occupation and residential stability, and so on, are being challenged by a broad rejection of the once powerful tool of tradition, society's attachment to a belief in the symbolic value of community remains strong. In an environment however, in which the interaction and interdependence of human activity is subject to continual re-evaluation as the current processes of industrialisation and globalisation unfold, the template of what constitutes 'community' may need to be re-defined. It is to this end that the present paper is concerned, in that it seeks to identify new community formations. Of particular interest, is the rise and reach of modern day 'social movements', and why, when analysing the subject from a macro-sociological perspective, they have come to assume such a pivotal role in occupying community spaces left vacant by the demise of traditional social institutions. The paper is exploratory in its focus, using relevant literature to posit some broad theoretical themes, with the aim of presenting such themes to encourage a shift in community debates away from traditional concerns about 'who' and 'how many', towards questions of why new community forms are emerging.

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This article seeks to demonstrate how Janet Frame’s late fiction can be read as a theoretical engagement with the conceptual investigations of Gilles Deleuze and Félix Guattari, especially the notions of minor literature and the in her late novels Living in the Maniototo (1981) and The Carpathians (1989). For this reason, my approach must be sharply distinguished from a more commonplace analogical framing of Frame or a simple one-to-one translation of her fiction into alternative terms. By weaving theory through her fiction, Frame makes a significant contribution to literature that responds to the still-emerging field of Deleuzean literary critical theory.

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Many within the history profession today consider that we are experiencing an ‘emotional turn’, a perception that has been spurred by a recent proliferation of research centres and outpouring of publications exploring the concept of emotion. Interest in this field looks likely to grow, although there are methodological challenges that have yet to be overcome, as, of course, there are with any newly emerging field of study. One main concern is source material. Attempting to access such an elusive and intensely subjective area of historical inquiry as emotions requires seeking out new sources, as well as returning to old ones with a fresh eye, with new questions in mind. In the specific realm of the emotional lives of women living in Victorian and Edwardian Britain, fiction proves a promising source – popular fiction especially. This is due to the fact that this was the era that ushered in the modern bestseller, novels that more often than not explored the everyday and the emotional, novels that were thought to have been ‘devoured’ by women in particular. This essay plots recent developments in the burgeoning area of emotions history, as well as those that have taken place in relation to the use of fiction as evidence in a history of women’s interior lives. It argues that, at this point in the development of emotions history, when questions of methodology, interdisciplinarity and sources are being addressed more widely, consideration should be given to popular fiction as a readily available pathway, if not an uncomplicated one, into the emotions of the past.

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Late adolescence and early adulthood are times of major behavioral transition in young women as they become more independent and make choices about lifestyle that will affect their long-term health. We prospectively evaluated nutritional and lifestyle factors in 566 15 30-year-old female twins participating in a mixed longitudinal study of diet and lifestyle.Twins completed 790 visits including questionnaires and measures of anthropometry. Nonparametric tests (chi-square, Mann-Whitney U, and Kruskal-Wallis; SPSS) were used to examine age-related differences in selected variables. Dietary calcium intake by short food frequency questionnaire was relatively low [511 (321,747)] mg/day (median, IQR; 60 % of estimated daily total) and did not vary significantly with age. The number of young women who reported ever consuming alcohol (12+ standard drinks ever) increased from 50 % under 18 years to 93 99 % for the 18+ age groups. Of those who consumed alcohol in the preceding year, monthly intake doubled from under 18 years (5.7, 3.9, 19.0 standard drinks; median, IQR) to 18+ years (12.0, 4.7, 26.0; P < 0.001) with the highest consumers being 21 23 and 27 29 years. At age 15 17 years, 14 % reported ever smoking and by age 27–29, 51 % had smoked (P = 0.002). Under the age of 20 years, average cigarette consumption in smokers was six cigarettes per day, increasing to ten above age 20 (P < 0.001). Participation in sporting activity decreased with age (P < 0.001): 47.5 % of 15–17-year-olds undertook 4 or more hour/week of sport, compared with 23.5 % at age 27–29 years. Conversely, sedentary behavior increased with age: 25.0 % of 15–17-year-olds reported 1 or less hour/week of exercise compared with 50.0 % at age 27–29 years. BMI increased with age (P = 0.011), from 21.3 (19.5, 23.6; median, IQR) in the youngest to 23.1 (21.5, 25.9) in the oldest. These highly significant changes in behavior in young women as they transitioned into independent adult living are predicted to impact adversely on bone and other health outcomes in later life. It is crucial to improve understanding of the determinants of these changes and to develop effective interventions to improve long-term health outcomes in young women.

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Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

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The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2 frequency was considerably lower in the Alzheimer's disease group (1%), and the epsilon3 allele and epsilon3/epsilon3 genotype frequencies were higher in the controls (84 and 72%, respectively) as were the epsilon4 allele and epsilon3/epsilon4 genotype frequencies in Alzheimer's disease (25 and 41%, respectively). The higher frequency of the epsilon4 allele in Alzheimer's disease confirmed its role as a risk factor, while epsilon2 provided a weak protection against development of the disease. However, in view of the unexpectedly low frequency of the epsilon4 allele, additional analyses in a more varied Brazilian sample are needed to clarify the real contribution of apolipoprotein E to the development of Alzheimer's disease in this population.

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Background: New challenges are rising in the animal protein market, and one of the main world challenges is to produce more in shorter time, with better quality and in a sustainable way. Brazil is the largest beef exporter in volume hence the factors affecting the beef meat chain are of major concern in countrýs economy. An emerging class of biotechnological approaches, the molecular markers, is bringing new perspectives to face these challenges, particularly after the publication of the first complete livestock genome (bovine), which has triggered a massive initiative to put in practice the benefits of the so called the Post-Genomic Era. Review: This article aimed at showing the directions and insights in the application of molecular markers on livestock genetic improvement and reproduction as well at organizing the progress so far, pointing some perspectives of these emerging technologies in Brazilian ruminant production context. An overview on the nature of the main molecular markers explored in ruminant production is provided, which describes the molecular bases and detection approaches available for microsatellites (STR) and single nucleotide polymorphisms (SNP). A topic is dedicated to review the history of association studies between markers and important trait variation in livestock, showing the timeline starting on quantitative trait loci (QTL) identification using STR markers and ending in high resolution SNP panels to proceed whole genome scans for phenotype/genotype association. Also the article organizes this information to reveal how QTL prospection using STR could open ground to the feasibility of marker-assisted selection and why this approach is quickly being replaced by studies involving the application of genome-wide association using SNP research in a new concept called genomic selection. Conclusion: The world's scientific community is dedicating effort and resources to apply SNP information in livestock selection through the development of high density panels for genomic association studies, connecting molecular genetic data with phenotypes of economic interest. Once generated, this information can be used to take decisions in genetic improvement programs by selecting animals with the assistance of molecular markers.

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Preeclampsia (PE) is characterized by hypertension and proteinuria, occurring after the 20th week of pregnancy in women who have had no previous symptoms. The disease progresses with generalized vasoconstriction and endothelial dysfunction. Clinically, it is important to diagnose the severe form of the disease (sPE), in which blood pressure and proteinuria are much higher. Recently, the gestational age (GA) of the onset of PE has led to the classification of this disease as early (GA <34 weeks) and late (GA >= 34 weeks). Several genetic polymorphisms affecting endothelial nitric oxide synthase (eNOS) levels or function were described, including G894T (Glu298Asp), VNTR b/a (variable-number 27-bp tandem repeat) and T-786C (promoter) polymorphisms. Thus, the aim of this study was to compare the distribution of G894T, VNTR b/a and T-786C polymorphisms and their haplotypes in Brazilian early and late sPE, as well as in normotensive pregnant. A total of 201 women were evaluated, 53 with early sPE, 45 with late sPE and 103 as normotensive pregnant women. The frequency of 894T allele was higher in late sPE vs normotensive pregnant, and 894TT genotype was higher in late sPE vs early sPE and normotensive pregnant. For VNTR b/a polymorphism, higher frequencies of aa genotype and a allele were observed in early sPE vs late sPE and normotensive pregnant. Besides, the frequency of haplotype T-b-C was higher in late sPE vs early sPE and normotensive pregnant. Considering the results found for eNOS polymorphisms, it is possible to suggest that the functional alterations induced by these two polymorphisms may influence the time of severe PE onset, although both alterations are putatively associated with low NO bioavailability. However, other studies are necessary to validate these findings and clarify this issue. (C) 2014 Elsevier Inc. All rights reserved.

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The rise of new multinationals in countries like Brazil provides an opportunity to revisit and carefully construct theories of how firms internationalize, a topic on which extant theory is weak. Brazilian firms are "infant multinationals", unlike developed country firms that are "mature multinationals". They are also internationalizing in a very different global context, and can do so on the basis of different competitive advantages than multinationals that came before. Therefore, this study aims at creating subsidies for theory building about early-stage internationalization. Emerging country firms have Production competences as main competitive asset to internationalize, what reflects their competitive positioning in home markets and their entry strategy in international markets. In the case of early-entrants - Western multinationals in the 1950s and Japanese in the 1980s - the Production competence played a key role for successful internationalization. Thus, the focus of the study is the role that the Production competence plays in the internationalization of late-entrants, the emerging country multinationals. The research design considers not only the position of the headquarters but also the initiatives of the subsidiaries and the dynamic interplay between both. The paper allows a better understanding of internationalization processes and the role of Production, when firms start building their own international networks. It brings relevant insights about the paths that are being followed by emerging country multinationals, the difficulties they find, the solutions they develop. These are important inputs not only for new theory building but also for managerial practice. (C) 2012 Elsevier B.V. All rights reserved.

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Human hepatitis E virus infections may be caused by zoonotic transmission of virus genotypes 3 and 4. To determine whether rodents are a reservoir, we analyzed the complete nucleotide sequence of a hepatitis E–like virus from 2 Norway rats in Germany. The sequence suggests a separate genotype for this hepatotropic virus.

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Enterococcus faecium recently evolved from a generally avirulent commensal into a multidrug-resistant health care-associated pathogen causing difficult-to-treat infections, but little is known about the factors responsible for this change. We previously showed that some E. faecium strains express a cell wall-anchored collagen adhesin, Acm. Here we analyzed 90 E. faecium isolates (99% acm(+)) and found that the Acm protein was detected predominantly in clinically derived isolates, while the acm gene was present as a transposon-interrupted pseudogene in 12 of 47 isolates of nonclinical origin. A highly significant association between clinical (versus fecal or food) origin and collagen adherence (P

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Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene. The level of residual enzyme activity, the genotype and other yet unknown factors account for the broad variation of the clinical phenotype. The classical infantile form is characterised by severe muscle hypotonia and cardiomyopathy leading to early death. The late-onset form presents as a limb girdle myopathy with or without pulmonary dysfunction. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) in infants is life saving. In contrast, therapeutic efficacy of rhGAA in the late-onset form is modest. High expenses of rhGAA, on-going infusions and poor pharmacokinetic efficacy raised a discussion of the cost effectiveness of ERT in late-onset Pompe disease in Switzerland. This discussion was triggered by a Swiss federal court ruling which confirmed the reluctance of a health care insurer not to reimburse treatment costs in a 67-year-old female suffering from Pompe disease. As a consequence of this judgement ERT was stopped by all insurance companies in late-onset Pompe patients in Switzerland regardless of their clinical condition. Subsequent negotiations lead to the release of a national guideline of the management of late-onset Pompe disease. Initiation and limitation of ERT is outlined in a national Pompe registry. Reimbursement criteria are defined and individual efficacy of ERT with rhGAA is continuously monitored.

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This article focuses on the studies and discourses of mostly British scholars of the early colonial period belonging to two schools of thought. It shows how the studies of both schools – European orientalism and utilitarianism – were intricately connected to the political development of the emerging British paramountcy over the South Asian sub-continent, as both were looking for means of establishing and/or strengthening colonial rule. Nevertheless, the debate was not just a continuation of discussions in Europe. Whereas the ideas of the European Enlightenment had some influence, the transformation of the Mughal Empire and especially the idea of a decline of Muslim rule offered ample opportunities for understanding the early history of India either as some sort of “Golden Age,” as the orientalists and their indigenous supporters did, or as something static and degenerate, as the utilitarians did, and from which the population of sub-continent had to be saved by colonial rule and colonial values. Fearing the spread of the ideas of the French Revolution, the first group of British scholars sought to persuade the native elites of South Asia to take the lessons of their past for the future development of their homeland. Just as the classicists back in Europe, these scholars were convinced that large-scale explanations of the past could also teach political and moral lessons for the present although it was important to deal with the distant past in an empirical manner. The utilitarians on the other hand believed that India had to be saved from its own depravity through the English language and Western values, which amounted to nothing less than the modern transformation of the true Classical Age.