Fertility and apparent genetic anticipation in Lynch syndrome

Genetic anticipation is the phenomenon in which age of onset of an inherited disorder decreases in successive generations. Inconsistent evidence suggests that this occurs in Lynch syndrome. A possible cause for apparent anticipation is fecundity bias, which occurs if the disease adversely affects fertility. The purpose of this study was to determine the effect of age of diagnosis of colorectal cancer (CRC) on lifetime fertility in Lynch syndrome, and whether this can falsely create the appearance of genetic anticipation. A computer model simulated age of diagnosis of CRC in hypothetical Lynch syndrome carriers and their offspring. The model assumed similar age distribution of CRC across generations (i.e. that there was no true anticipation). Age distribution of CRC diagnosis, and lifetime fertility rates (grouped by age of diagnosis of CRC) were determined from the Australasian Colorectal Cancer Family Registry (ACCFR). Apparent anticipation was calculated by comparing ages of diagnosis of CRC in affected parent-child pairs. A total of 1,088 patients with CRC were identified from the ACCFR. Total lifetime (cohort) fertility was related to age of diagnosis of CRC (correlation coefficient 0.13, P = 0.0001). In the simulation, apparent anticipation was 1.8 ± 0.54 years (P = 0.0044). Observed apparent anticipation in the ACCFR cohort was 4.8 ± 1.73 years (P = 0.0064). There was no difference in apparent anticipation between the simulate d and observed parent-child pairs (P = 0.89). The appearance of genetic anticipation in Lynch syndrome can be falsely created due to changes in fertility.

No evidence of genetic anticipation in a large family with Lynch syndrome.

Lynch syndrome is the commonest inherited cause of colorectal cancer (CRC). Genetic anticipation occurs when the age of onset of a disorder decreases in successive generations. It is controversial whether this occurs in Lynch syndrome. Previous studies have included heterogenous groups of subjects from multiple families, including subjects with a clinical diagnosis (based on family history) as well as those with proven germline mismatch repair gene mutations. The purpose of this study was to determine whether genetic anticipation occurs in mismatch repair gene carriers from a single Lynch syndrome family. This study includes members of a single family known to carry an MLH1 gene mutation who are proven germline mutation carriers or obligate carriers (based on their offspring's mutation status). Evidence of genetic anticipation (determined by age of onset of first CRC) was sought in two ways: Firstly, subjects were grouped as parent-child pairs and individuals were compared with their own offspring; secondly they were grouped by generation within the family tree. The Kaplan-Meier technique was used to adjust for variable follow up times. The family tree consisted of 714 subjects. Ninety-two subjects over five generations were included in the study. There was no evidence of genetic anticipation over the generations. (P = 0.37). Similarly, in the 75 parent-child pairs identified, age of onset of CRC was similar for parents and children (P = 0.51). We could not identify any evidence of genetic anticipation in mutation carriers from a single family with Lynch syndrome.

Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome

AIM: Infertility is a concern for young survivors of colorectal cancer (CRC), but this risk is not well quantified. Carriers of mismatch repair (MMR) mutations are a useful cohort for studying fertility after CRC as they commonly develop CRC when young, and unaffected family members provide demographically similar controls. The aim of this study was to determine the effect of CRC on fertility in a large cohort of MMR mutation carriers. METHOD: Mismatch repair mutation carriers identified from the Australasian Colorectal Cancer Family Registry were included. For each year of life within the fertile age range (15-49), the number of living individuals and the number of children born to them were determined. Individuals were grouped by whether or not they had had a diagnosis of CRC by that age. Age-specific and total fertility rates were calculated. RESULTS: We identified 1068 subjects (611 women and 457 men), of whom 467 were diagnosed with CRC. There were 1192 births during 18 674 person-years of follow-up to the women and 814 births during 14 013 person-years of follow-up to the men. The total fertility rate was decreased in women after a diagnosis of CRC compared with those who did not have CRC (1.3 vs 2.2; P = 0.0011), but age-specific fertility was only reduced in the 20-24-year age group. In men the total fertility rate was similar for both groups (2.0 vs 1.8; P = 0.27). CONCLUSION: Age-specific fertility was decreased in female CRC survivors with Lynch syndrome aged 20-24, but not in older women or in men.

Lynch syndrome: natural history and colonoscopic surveillance

Lynch syndrome is the commonest inherited cause of bowel cancer. This thesis explores the natural history and cancer risk in Lynch syndrome and documents the effect of colorectal cancer on fertility. It also demonstrates that colonoscopic surveillance can prevent colorectal cancers and thus improve survival in these subjects.

Comparing alternate teaching styles to teach computing skills to girls in their English classes

Low female participation rates in computing are a current concern of the education sector. To address this problem an intervention was developed — computing skills were introduced to girls in their English classes using three different teaching styles: peer tutoring, cross-age tutoring and teacher instruction (control). The sample comprised 136 girls from Years 8 and 10 from a single-sex government school. A pre-test post-test quantitative design was used. To describe the students perspectives, qualitative data were collected from six focus groups conducted with 8–10 students — one from each of the six classes. It was predicted that cross-age tutoring would yield more positive effects than peer tutoring which, in turn, would yield more positive effects than traditional teacher instruction as assessed by achievement on class tasks and attitudes towards computing. The hypothesis was not supported by the quantitative analysis, however in the qualitative data cross-age tutoring was appraised more favourably than peer tutoring or teacher instruction. The latter was the least preferred condition due to: (1) inefficiency; (2) difficulty understanding teachers' explanations; and (3) lack of teacher knowledge. Problems with the implementation of the intervention identified in the focus groups were teacher differences, system failures, missed classes, lack of communication, and selection of computing activities. Practical suggestions were provided relevant to the introduction of cross-age tutoring and the use of computers within secondary level English classes.

Towards a market oriented approach: employer requirements and implications for undergraduate economics programs

The decline in enrolments in economics degrees and majors has been the focus of much concern in recent times. In 2001, two of the current researchers published a paper outlining a framework with which future investigation into this issue could be conducted. Essentially this paper argued that a market oriented approach, which takes into account the value students and employers place on economics studies may point the way to a solution to the problem. As a first step in developing such an approach it is necessary to determine what employers require of the economics graduates they hire. A survey was conducted in 2002. This paper presents the results of this survey and discusses some of the ramifications for the teaching of undergraduate economics.

Individual and organisational factors influencing academics` decisions to pursue the scholarship and teaching of ICT

This paper focuses on Information and Communication Technology (ICT) academics' perceptions of factors that promote and inhibit their pursuit of scholarship in their teaching work. It identifies critical factors that influence academics' attitudes, orientations and behaviours in respect to the scholarship of teaching, and from these builds a framework for understanding the interaction between these factors. We have named this framework the Scholarship of Teaching Support Framework.

During 2001 and 2002 a national project investigated teaching and learning initiatives in the major discipline of lCT in Australia's universities. As part of this project a mini-conference program was devised to elicit academics' perceptions of the factors influencing their teaching work and their participation in scholarly activities around this work. In total 83 ICT teachers from 29 universities participated in the mini-conference program. Attendees included staff members from a range of academic levels.

In discussions of aspects of the scholarship of teaching at the mini-conference participants referred to both attributes and responses of both university teachers and the university institutions. We have categorized these factors into those that relate to the individual academic (Individual domain) and those that relate to the tertiary institutional system (Organisational domain). Many contributions highlighted the interaction between these two domains.

Within the Individual domain, two key factors described by participants as affecting the pursuit of the scholarship of teaching were teachers' motivation towards, and their capabilities in, scholarly activities surrounding their teaching. Within the organizational domain two influential factors also emerged. These were the organizational support provided through allocation of resources and symbolic support reflected in an institution's systems, policies and processes.

Our findings indicate that both the Individual and Organizational domains contribute to university teachers' decisions to pursue (or not to pursue) the scholarship of teaching.

These two domains were seen by participants to interact within university environments to influence whether a particular environment is supportive or unsupportive in terms of the pursuit of the scholarship of teaching. Factors both from and within the individual and the organizational domains were seen to interact with each other forming a web of interrelated factors that appear to influence individuals' decisions to pursue, or not to pursue, the scholarship of teaching. From this complexity four theoretical extremes emerged providing the dimensions and components of the Scholarship of Teaching Support Framework.

We argue that responsive and innovative approaches to university teaching are best supported by academics undertaking scholarly activities around their teaching work, yet this article presents a picture of a university work environment where scholarly activities that focus on teaching and learning are seen as generally unsupported and unrewarded. This perception was identified as commonalities across a university system. Although some exceptions were noted, participants generally agreed that the organisational domain of Australian universities was largely unsupportive of the pursuit of the scholarship of teaching. Similarly, in general, university ICT teachers were not thought to have the backgrounds and capabilities necessary for pursuing the scholarship of teaching, such as familiarity with literature on teaching and learning and skills in educational evaluation. However, despite perceived inhibitors in universities' organisational culture and allocation of resources, and a perceived lack in individuals' skills, participants agreed that scholarly activities and innovation in university teaching and learning do take place, These are largely driven by the intrinsic motivation of individuals. It was recognised that further work is necessary to explore how motivation can be engendered and encouraged.

The Scholarship of Teaching Support Framework is a useful tool for examining how conducive a given university teaching context is to the scholarship of teaching and, therefore, can be used for review purposes within both research and policy contexts. Such tools will become increasingly important as policy changes begin to affect practices in how university teaching work is managed, supported and encouraged.

Construction of gender in computer magazine advertisements : confronting the literature

Previous studies (Sofia, 1998; 2002; Turner & Hovenden, 1997; Weinstein, 1998) discussed the power relations surrounding the advertisements for computers in computing magazines, in particular deconstructing the imagery and text which manifested the dominant digital discourse of power (Millar, 1998). In these studies, the authors found that women were positioned as incapable and impotent users of computers.  The authors examined a number of New Zealand and Australian home computing magazines published in 2003 and 2004, looking for evidence of the gendered nature of technology or examples of any form which would constitute discrimination against women or other identity categories. The purpose of this research was to determine whether previous arguments were still relevant and current, or whether advertisements had changed to accommodate populist understandings of gender and cultural equity, or reflect improved power relations between the sexes. In this paper we have explored the findings of a study, which, although small in scale, raises larger questions concerning the 'new' ways in which issues of gender influence advertising focused on computers. Whilst there has been a significant reduction in overtly sexist texts, hegemonic understandings of masculinity and femininity nevertheless continue to structure mainstream advertisements with women routinely positioned in passive, non-expert or very limited kinds of roles. The extent to which this imagery reflects broader social patterns regarding the re-emergence of traditional portrayals of women and men in the media more generally will be the subject of future studies.

Assessing effects of technology usage on mathematics learning

Computer-based technologies are now commonplace in classrooms, and the integration of these media into the teaching and learning of mathematics is supported by government policy in most developed countries. However, many questions about the impact of computer-based technologies on classroom mathematics learning remain unanswered, and debates about when and how they ought to be used continue. An increasing number of studies seek to identify the effects of technology usage on classroom learning, and at a time when governments are calling for 'evidence-based' policy development, many studies applying quasi- scientific methodologies to this field of practice are emerging. By analysing a series of conceptual frameworks for assessing the use of computer-based technologies to support school learning, this article emphasises the value of research into the relationship between technical and conceptual aspects of technology use in mathematics education and beyond, and challenges the usefulness of large-scale, quasi-scientific studies that focus on educational inputs and outputs.

The scholarship of teaching: risky business in ICT education

The idea of the scholarship of teaching was reinvigorated twelve years ago by Boyer's (1990) book, Scholarship reconsidered: Priorities of the professoriate. Since then a considerable body of literature has developed, discussing what the scholarship of teaching might look like, why it is desirable and how it might be encouraged. The scholarship of teaching has been described as including the activities involved in designing, implementing and evaluating teaching and learning, and associated dissemination activities. Over the last few years there has been a resurgence of interest in the role that scholarship might play in the promotion, recognition and reward of good university teaching.

This paper draws on qualitative data that were collected as part of a national study of the major university discipline of Information and Communication Technology (ICT) to generate a framework for describing the context of university teaching and for examining how conducive this context is to the scholarship of teaching. The framework comprises two domains: that of the individual educator and that of the organisational environment in which the educator works. The paper highlights the importance of, and interaction between, these domains, and the role they play in promoting or discouraging the scholarship of teaching.

What can we learn from McLuhan? Electronic communication technologies and the future of schooling

In the 1960's, Marshall McLuhan predicted that schooling, among other things, would be transformed as society embraced electronic communication technologies. McLuhan and other medium theorists provided an evocative but controversial discussion of the effects of technological development on society and its institutions. McLuhan's ideas were widely criticised by his contemporaries, particularly educationalists; however, his ideas are not so radical today and visions similar to those formulated by McLuhan can now be found in mainstream educational literature. Predictions made by medium theorists about the future of schooling are consistent with both the reforms advocated by current-day educationalists and the speculations of technologists.

In this paper, I revisit McLuhan's predictions for the future of education. I then draw parallels between McLuhan's vision and those espoused by contemporary educationalists. I argue that, although McLuhan's predictions have re-emerged, his analysis of the interaction between new technologies and old ways of doing have not re-emerged to the same extent, with many commentators neglecting to take account of the resilience of the institutionalised practices, structures and roles of traditional schooling.

Promoting innovation in university teaching against the tide of centralised control and institutional risk avoidance

Over the last m'o decades, university systems world-wide have been subject to government initiated, top-down restructures in the name of greater effectiveness, accountability and quality. Within this timefrome, government interest in university teaching has increased, and innovation and responsiveness in teaching have been increasingly prioritised by both government and university policies. AcademiC interest in the teaching has also increased. and much research and discussion has focused on defining teaching as a source of scholarship and expounding its role in the promotion of innovation, and in the recognition and rewarding of teaching work. In this paper, I draw on a study of academics' views, which I have reported at previous AARE conferences and elsewhere, to raise questions about recent and ongoing developments in the work environment of university educators.l raise the possibility that systems and processes whose express purpose is to facilitate and support university educators' efforts to improve teaching are, in fact. inhibiting innovative practice by institutionalising an aversion to risk that is anathema to innovation.

Change happens: acceptance of 'impermanence' and 'flow' in teachers' professional reflections on technology and change

For several years the authors of this paper have monitored the use of information and communication technologies (ICT) in primary and secondary schools. In this paper they report on their work in progress, focusing particularly on data collected via teacher interviews in 2003. It is a 'good news' story that celebrates a shift in the way school teachers approach ICT, and that shows that teachers are a lot more comfortable with ICT than the authors have previously observed. The authors argue that a significant transition has occurred in the hardware, software and 'warmware', the people and how they can work with the hardware and software as part of their pedagogy. Existing research tends to construct change as something that has to be planned, prepared for and managed (eg. Fullan, 1997), and as something that teachers often resist (eg. Cuban, 1993; Grunberg & Summers, 1992; Hodas, 1998). This paper is distinctive in drawing on Eastern approaches to understanding change. Through an examination of the concepts of "impermanence" and "flow," and how they apply to ICT, schools and teachers' work, we seek to demystify change: Change happens, has happened and will continue to happen. We conclude that teachers' increased familiarity with, and increasingly relaxed approach to, ICT has led to a shift in their attentions, such that they are less concerned with obtaining and mastering particular software and hardware, and more concerned with pedagogy and student learning.

Loyalty to the profession? A study of Australian financial planners

The purpose of this paper is to examine the demographic variables of age and gender in conjunction with three independent variables: Internal versus external locus of control personality dimension, individualist versus collectivist personality dimension, and perceived environmental uncertainty and to relate same to the professional commitment (PC) of financial planners in Australia. A questionnaire was used to survey a sample of 312 financial planners nationally, with a 36% response rate and statistically significant results. At the 90% confidence level (p=0.10) respondents over the age of 35 demonstrated no difference between their levels of professional commitment than did those under the age of 35, while at the same level of confidence, females demonstrated a statistically significant higher level of PC than did their male counterparts. Respondents with an external locus of control displayed lower levels of PC (p=0.10) that those with an internal locus of control. These findings contribute to our understanding of the professional commitment of financial planners, and are important from a public policy perspective in an era of increasing attention to, and likely increased regulation of, the financial planning industry.