| 1. |
- Peacock, Christopher S, et al.
(author)
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Comparative genomic analysis of three Leishmania species that cause diverse human disease.
- 2007
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:7, s. 839-847
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Journal article (peer-reviewed)abstract
- Leishmania parasites cause a broad spectrum of clinical disease. Here we report the sequencing of the genomes of two species of Leishmania: Leishmania infantum and Leishmania braziliensis. The comparison of these sequences with the published genome of Leishmania major reveals marked conservation of synteny and identifies only 200 genes with a differential distribution between the three species. L. braziliensis, contrary to Leishmania species examined so far, possesses components of a putative RNA-mediated interference pathway, telomere-associated transposable elements and spliced leader–associated SLACS retrotransposons. We show that pseudogene formation and gene loss are the principal forces shaping the different genomes. Genes that are differentially distributed between the species encode proteins implicated in host-pathogen interactions and parasite survival in the macrophage.
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| 2. |
- Plass, Anne Marie C., et al.
(author)
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Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union
- 2009
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In: Genetic Testing and Molecular Biomarkers. - : Mary Ann Liebert Inc. - 1945-0265 .- 1945-0257. ; 13:3, s. 367-376
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Journal article (peer-reviewed)abstract
- Background: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health. Aim: This study, which is part of the larger 5th EU-framework "genetic education'' (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease. Methods: A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor. Results: Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not. Conclusion: Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children.
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| 3. |
- Benjamin, Caroline M., et al.
(author)
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Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden
- 2009
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In: Midwifery. - : Elsevier BV. - 1532-3099 .- 0266-6138. ; 25:5, s. 483-499
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Journal article (peer-reviewed)abstract
- Objective: to investigate whether practising midwives are adequately prepared to integrate genetic information into their practice. Design: a cross-sectional, postal, structured questionnaire survey was sent to practising midwives. Setting: practising midwives from the Netherlands (NL), Sweden (SE) and the United Kingdom (UK). Participants: 1021 replies were received, achieving a response rate of 62%. Findings: 79% (799/1015) of midwives reported attending courses with some 'genetic content' during their initial training. Sixty-eight per cent (533/784) judged this to have been useful for clinical practice. Variation was seen between countries in the amount of genetic content in post-registration training (SE 87%, NL 44%, UK 17%) and underpinned by genetic knowledge. For eight of the 12 procedures, fewer than 20% of midwives considered themselves to be confident. Differences were apparent between countries. Midwives identified psychosocial, screening and risk assessment aspects of genetic education as being important to them, rather than technical aspects or genetic science. Conclusions: given the low reported confidence with genetic issues in clinical practice, it is essential that this is addressed in terms of the amount, content and targeting of genetic education. This is especially important to ensure the success of national antenatal and baby screening programmes. The results of this study suggest that midwives would welcome further training in genetics, addressing genetic topics most relevant to their clinical practice. (C) 2007 Elsevier Ltd. All rights reserved.
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