Genome-wide search for markers associated with bovine spongiform encephalopathy

A genome-wide search for markers associated with BSE incidence was performed by using Transmission-Disequilibrium Tests (TDTs). Significant segregation distortion, i.e., unequal transmission probabilities of alleles within a locus, was found for three marker loci on Chromosomes (Chrs) 5, 10, and 20. Although TDTs are robust to false associations owing to hidden population substructures, it cannot distinguish segregation distortion caused by a true association between a marker and bovine spongiform encephalopathy (BSE) from a population-wide distortion. An interaction test and a segregation distortion analysis in half-sib controls were used to disentangle these two alternative hypotheses. None of the markers showed any significant interaction between allele transmission rates and disease status, and only the marker on Chr 10 showed a significant segregation distortion in control individuals. Nevertheless, the control group may have been a mixture of resistant and susceptible but unchallenged individuals. When new genotypes were generated in the vicinity of these three markers, evidence for an association with BSE was confirmed for the locus on Chr 5.

Teaching colour theory online : challenges, opportunities and experiences [Abstract]

Over the past decade, various paradigm shifts and challenges have rapidly changed learning and teaching in higher education including meeting student expectation for more engaging, more interactive learning experiences, the increased focus in the tertiary sector to deliver content online, and dealing with the complexities of fast-changing technologies. Rising to these challenges and responding to them is a complex and multi-faceted task. This paper discusses a case study undertaken applying a framework drawn from engineering education teaching and learning methods using the concept of academagogy, which is learner-centric, actively empowering students in building effective learning and engages facilitators in meaningful teaching and delivery methods.

The management of venereal disease in New South Wales, 1871 to 1916

Practical techniques to manage the dangers associated with sexually transmitted diseases have varied considerably both cross culturally and historically. Adopting a Foucauldian perspective, this article examines sociohistorical aspects of the governance of venereal disease in New South Wales between 1871 and 1916. Public debates and official documents are analysed to identify strategic shifts in practices associated with venereal disease management , especially in relation to prostitution. Particular attention is paid to the development of contagious disease legislation and its role in the regulation of venereal disease . It is argued that during the period in question, two distinct governmental regimes of disease control can be identified. In the first, medical policing managed venereal disease through the mobilisation of repressive controls, requiring the isolation and detention of polluting bodies. In the second, liberal governance adopted pedagogic practices to train populations perceived as either healthy or unhealthy. It is further argued that as liberal strategies of governance came to dominate the management of venereal disease , the association of prostitution with venereal disease began to weaken. Instead, authorities became increasingly concerned with populations whose behaviour was not traditionally linked with venereal disease , such as the young and the sexually inexperienced.

The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis

Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.

The F158V polymorphism in FcγRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations

Objectives: To investigate the association of the FcγRIIIA gene with rheumatoid orthritis (RA) in two genetically distinct groups: a white group from the United Kingdom and a northern Indian group. Methods: The distributions of the two alleles of the FcγRIIIA F158V polymorphism were determined in 398 white patients from the United Kingdom and 63 Indian patients with RA and compared with those from 289 United Kingdom and 93 Indian healthy controls, respectively. Results: Among the Indian patients, the frequency of the rare 158V allele and the proportion of 158VV homozygotes were reduced (relative risk (RR)=0.3, 95% confidence interval (95% CI) 0.1 to 1.1, p<0.06), reaching statistical significance for carrying the 158VV phenotype relative to 158FV or FF (RR=0.2, 95% CI 0.05-0.9, p<0.02). Conversely, no significant deviation in allelic frequencies was noted between the patients and controls from the United Kingdom. Conclusions: The 158VV phenotype showed a weak protective effect against developing RA in the Indian group. However, this sample was small (resulting in a low power for statistical analysis) and no independent confirmation was found in the larger white United Kingdom group. Thus the FcγRIIIA locus is unlikely to be of major importance in causing RA.

HLA-DR/DQ haplotype in rheumatoid arthritis: Novel allelic associations in UK Caucasians

Objective. To elucidate the relative importance of the HLA-DR and HLA-DQ loci in conferring genetic predisposition to rheumatoid arthritis (RA). Methods. HLA-DRB1 and HLA-DQB1 alleles were typed in a set of 685 patients with RA using sequence-specific polymerase chain reaction. Allele and phenotype frequencies were compared with those in 2 large sets of historical, ethnically matched healthy controls, using the relative predispositional effect method. Results. Positive association was confirmed with the shared epitope positive HLA-DRB1 alleles associated with RA in Caucasians. A significant susceptibility effect was observed with HLA-DRB1*09, described in other ethnically diverse populations but not in Caucasians. A significant underrepresentation of the HLA-DRB1*0103 variant was noted among the RA cases, supporting the proposed protective role of the DERAA motif at residues 70-74 of the DRβ molecule. No HLA-DRB1 independent association of the HLA-DQB1 alleles, implicated in predisposing to RA, was evident. Conclusion. These data corroborate the shared epitope hypothesis of susceptibility to RA and provide strong evidence for the DRB1 locus as the primary RA susceptibility factor in the HLA region.

Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians

The role of the CTLA-4 antigen in the development of autoimmune diseases is well documented, with several autoimmune disorders showing association or linkage with the CTLA-4 locus. Its role in the aetiology of rheumatoid arthritis (RA) however, remains unclear, as the functional studies of the B7-CTLA-4 pathway in mouse models of RA and genetic studies in humans have given contrasting results. We have studied the single nucleotide polymorphism at position +49 (A/G) of the CTLA-4 gene, in a cohort of 421 RA cases and 452 healthy controls from the UK. Despite the high statistical power to detect even a weak susceptibility effect, no significant association was found. We also analysed the distribution of the allele and genotype frequencies with respect to the presence of the shared epitope (a known RA susceptibility factor) and found no statistically significant differences. We conclude that, although the importance of the B7-CTLA-4 interaction in the development of RA can not be excluded, the CTLA-4 gene is unlikely to be a predisposing factor to this disease.

A systematic review of capnography for sedation

We included six trials with 2524 participants. Capnography reduced hypoxaemic episodes, relative risk (95% CI) 0.71 (0.56-0.91), but the quality of evidence was poor due to high risks of performance bias and detection bias and substantial statistical heterogeneity. The reduction in hypoxaemic episodes was statistically homogeneous in the subgroup of three trials of 1823 adults sedated for colonoscopy, relative risk (95% CI) 0.59 (0.48-0.73), although the risks of performance and detection biases were high. There was no evidence that capnography affected other outcomes, including assisted ventilation, relative risk (95% CI) 0.58 (0.26-1.27), p = 0.17.

Regulating IVF and pre-implantation tissue-typing for the creation of "saviour siblings" : a harm analysis

Scientific discoveries, developments in medicine and health issues are the constant focus of media attention and the principles surrounding the creation of so called ‘saviour siblings’ are of no exception. The development in the field of reproductive techniques has provided the ability to genetically analyse embryos created in the laboratory to enable parents to implant selected embryos to create a tissue-matched child who may be able to cure an existing sick child. The research undertaken in this thesis examines the regulatory frameworks overseeing the delivery of assisted reproductive technologies (ART) in Australia and the United Kingdom and considers how those frameworks impact on the accessibility of in vitro fertilisation (IVF) procedures for the creation of ‘saviour siblings’. In some jurisdictions, the accessibility of such techniques is limited by statutory requirements. The limitations and restrictions imposed by the state in relation to the technology are analysed in order to establish whether such restrictions are justified. The analysis is conducted on the basis of a harm framework. The framework seeks to establish whether those affected by the use of the technology (including the child who will be created) are harmed. In order to undertake such evaluation, the concept of harm is considered under the scope of John Stuart Mill’s liberal theory and the Harm Principle is used as a normative tool to judge whether the level of harm that may result, justifies state intervention or restriction with the reproductive decision-making of parents in this context. The harm analysis conducted in this thesis seeks to determine an appropriate regulatory response in relation to the use of pre-implantation tissue-typing for the creation of ‘saviour siblings’. The proposals outlined in the last part of this thesis seek to address the concern that harm may result from the practice of pre-implantation tissue-typing. The current regulatory frameworks in place are also analysed on the basis of the harm framework established in this thesis. The material referred to in this thesis reflects the law and policy in place in Australia and the UK at the time the thesis was submitted for examination (December 2009).

Network

Network has emerged from a contempory worldwide phenomenon, culturally manifested as a consequence of globalization and the knowledge economy. It is in this context that the internet revolution has prompted a radical re-ordering of social and institutional relations and the associated structures, processes and places which support them. Within the duality of virtual space and the augmentation of traditional notions of physical place, the organizational structures pose new challenges for the design professions. Technological developments increasingly permit communication anytime and anywhere, and provide the opportunity for both synchronous and asynchronous collaboration. The resultant ecology formed through the network enterprise has resulted in an often convolted and complex world wherein designers are forced to consider the relevance and meaning of this new context. The role of technology and that of space are thus interwined in the relation between the network and the individual workplace. This paper explores a way to inform the interior desgn process for contemporary workplace environments. It reports on both theoretical and practical outcomes through an Australia-wide case study of three collaborating, yet independent business entities. It further suggests the link between workplace design and successful business innovation being realized between partnering organizations in Great Britain. Evidence presented indicates that, for architects and interior designers, the scope of the problem has widened, the depth of knowledge required to provide solutions has increased, and the rules of engagement are required to change. The ontological and epistemological positions adopted in the study enabled the spatial dimensions to be examined from both within and beyond the confines of a traditional design only viewpoint. Importantly it highlights the significance of a trans-disiplinary collaboration in dealing with the multiple layers and complexity of the contemporary social and business world, from both a research and practice perspective.

By the day nurses bank up in a casual pool!

We suspect that the array of silly names used to refer to temporary staff worldwide may be indicative of the extent to which these nurses have been relegated to, and we would argue, remain in, a type of underclass – relatively unsupported by employers in terms of professional practice and ipso facto excluded from contributing professionally to team work, practice development, clinical governance and evidence based practice. This may be acceptable to some but in a climate of risk averseness and in the interests of strategic planning we would suggest it is an accident waiting to happen. The recent UK Royal College of Nursing (RCN) (Ball & Pike, 2006) survey of bank and agency nurses brings a welcome focus on a group of nurses that make a significant contribution to the smooth running of health services in many countries.

Culture and creative industries in Australia

It has been argued that the origins of modern creative industries policies can be found in Australia. The Creative Nation national cultural policy statement released by the Labor government headed by the Prime Minister Paul Keating in 1994 sought an original synthesis of arts and media policies that was outwardly looking, identifying the opportunities presented by what were then new digital media technologies, and clearly stated the economic opportunities presented by promotion of what were referred to at the time as the cultural industries. Several commentators have identified the influence that Creative Nation had on the Blair Labour government when it came to power in the United Kingdom in 1997. Faced with the question of how to revitalise the once-mighty industrial cities of the U.K. after the Conservative government, the Department of Culture, Media and Sport drew upon policy documents such as Australia’s Creative Nation, as well as the experience of local governments in these cities, in looking to the cultural sectors to spearhead new jobs growth, as well as re-branding the cities as cultural or creative cities in a post-industrial economic landscape. This growing alignment of culture and economics, that has been a characteristic of creative industries policies as they have developed in Australia, Britain, East Asia and Europe, marks an interesting shift in the traditional focus of arts and cultural policy as compensatory to the economic domain. The first Chair of what would become the Arts Council of Great Britain (now the Arts Council of England) was the famous economist John Maynard Keynes. In the First Annual Report of the Arts Council for 1945-1946, prepared in the latter stages of the Second World War, Keynes proposed that “the day is not far off when the economic problem will take the back seat where it belongs, and the arena of the heart and the head will be occupied or reoccupied, by our real problems — the problems of life and of human relations, of creation and behaviour and religion”. 中文摘要 1994年工黨執政時期澳洲總理基挺（Paul Keating）發表創意的國家（The Creative Nation）的文化政策聲明堪稱是澳洲現代創意產業的起源，該聲明試圖將藝術與媒體政策結合在一起，其目的在面向海外，為新數位媒體技術尋找機會。聲明中明確指出要推動文化產業為經濟帶來機會。「文化政策也是經濟政策。文化創造財富與附加價值，對創新、行銷與設計有重要貢獻，是我們工業的標誌（badge）。我們創意的層次實際上決定了我們適應新經濟imperatives的能力。文化本身就是項重要出口，是其他產品出口的主要附件（essential accompaniment）。文化吸引觀光與學生，也是我們經濟成功之關鍵。」 創意產業的策略是構建藝術、媒體與資訊電信科技的網絡以利文化產業在國家創新政策策略中擁有一席之地。此一策略最早是由1990年代末英國布萊爾（Tony Blair）的新工黨政府所採行，其後歐洲聯盟、澳洲、紐西蘭、新加坡、台灣、南韓與中國。

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families : evidence for common founders and independent mutations

Germ-line mutations in CDKN2A have been shown to predispose to cutaneous malignant melanoma. We have identified 2 new melanoma kindreds which carry a duplication of a 24bp repeat present in the 5' region of CDKN2A previously identified in melanoma families from Australia and the United States. This mutation has now been reported in 5 melanoma families from 3 continents: Europe, North America, and Australasia. The M53I mutation in exon 2 of CDKN2A has also been documented in 5 melanoma families from Australia and North America. The aim of this study was to determine whether the occurrence of the mutations in these families from geographically diverse populations represented mutation hotspots within CDKN2A or were due to common ancestors. Haplotypes of 11 microsatellite markers flanking CDKN2A were constructed in 5 families carrying the M53I mutation and 5 families carrying the 24bp duplication. There were some differences in the segregating haplotypes due primarily to recombinations and mutations within the short tandem-repeat markers; however, the data provide evidence to indicate that there were at least 3 independent 24bp duplication events and possibly only 1 original M53I mutation. This is the first study to date which indicates common founders in melanoma families from different continents.

Good and bad Sharia : Australia's mixed response to Islamic law

Reflecting on the legal consequences of globalisation in the 21st century, Twining predicted that societies in the West would have to 'wrestle with the extent to which the state should recognise, make concessions to, or even enforce norms and values embedded in different religions, cultures or traditions'. This is borne out as the direction across the common law world moves towards entrenching legal pluralism. The concessions each nation has made to minorities with different religions, cultures and traditions have varied. The special character of Islam, as a comprehensive blueprint for life in which law and religion unite, has meant that the negotiations for a special place for Muslims within each common law jurisdiction has been at the forefront of new legal ordering possibilities. This is the crux of the pluralism debate. Cautiously, Australians have watched the, at times histrionic, discourse in Canada and Great Britain on official recognition for Islamic law.