13 research outputs found

    Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene

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    Mutations in PROP1 are a common genetic cause of multiple pituitary hormone deficiency (MPHD). We used a comparative genomics approach to predict the transcriptional regulatory domains of Prop1 and tested them in cell culture and mice. A BAC transgene containing Prop1 completely rescues the Prop1 mutant phenotype, demonstrating that the regulatory elements necessary for proper PROP1 transcription are contained within the BAC. We generated DNA sequences from the PROP1 genes in lemur, pig, and five different primate species. Comparison of these with available human and mouse PROP1 sequences identified three putative regulatory sequences that are highly conserved. These are located in the PROP1 promoter proximal region, within the first intron of PROP1, and downstream of PROP1. Each of the conserved elements elicited orientation-specific enhancer activity in the context of the Drosophila alcohol dehydrogenase minimal promoter in both heterologous and pituitary-derived cells lines. The intronic element is sufficient to confer dorsal expansion of the pituitary expression domain of a transgene, suggesting that this element is important for the normal spatial expression of endogenous Prop1 during pituitary development. This study illustrates the usefulness of a comparative genomics approach in the identification of regulatory elements that may be the site of mutations responsible for some cases of MPHD

    Gender policy in Australian schools: a missed opportunity?

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    This paper describes the rise of boys' education as a substantial social and educational issue in Australia in the 1990s, mapping the changes in Australian discourses on boys' education in this period. Ideas and authors informed by the men's movement entered the discourses about boys' education, contributing to a wave of teacher experimentation and new ways of thinking about gender policies in schools. The author suggests that there is currently a policy impasse, and proposes a new multi-disciplinary approach bringing together academic, practitioner, policy, and public discourses on boys' education

    Discontinuities between maternity and child and family health services: Health professional's perceptions

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    Background: Continuity in the context of healthcare refers to the perception of the client that care has been connected and coherent over time. For over a decade professionals providing maternity and child and family health (CFH) services in Australia and internationally have emphasised the importance of continuity of care for women, families and children. However, continuity across maternity and CFH services remains elusive. Continuity is defined and implemented in different ways, resulting in fragmentation of care particularly at points of transition from one service or professional to another. This paper examines the concept of continuity across the maternity and CFH service continuum from the perspectives of midwifery, CFH nursing, general practitioner (GP) and practice nurse (PN) professional leaders. Methods. Data were collected as part of a three phase mixed methods study investigating the feasibility of implementing a national approach to CFH services in Australia (CHoRUS study). Representatives from the four participating professional groups were consulted via discussion groups, focus groups and e-conversations, which were recorded and transcribed. In total, 132 professionals participated, including 45 midwives, 60 CFH nurses, 15 general practitioners and 12 practice nurses. Transcripts were analysed using a thematic approach. Results: 'Continuity' was used and applied differently within and across groups. Aspects of care most valued by professionals included continuity preferably characterised by the development of a relationship with the family (relational continuity) and good communication (informational continuity). When considering managerial continuity we found professionals' were most concerned with co-ordination of care within their own service, rather than focusing on the co-ordination between services. Conclusion: These findings add new perspectives to understanding continuity within the maternity and CFH services continuum of care. All health professionals consulted were committed to a smooth journey for families along the continuum. Commitment to collaboration is required if service gaps are to be addressed particularly at the point of transition of care between services which was found to be particularly problematic
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