Diana Quinn

Microsatellite instability markers in breast cancer: a review and study showing MSI was not detected at 'BAT 25' and 'BAT 26' microsatellite markers in early-onset breast cancer.

Microsatellite markers may provide evidence of faulty DNA mismatch repair (MMR) via the detection of microsatellite instability (MSI). The choice of microsatellite markers may impact on the MSI detection rate. In hereditary non-polyposis colon cancer (HNPCC), several informative microsatellite markers have been recommended. Two of these, BAT 25 and BAT 26, are quasi-homozygous, enabling analysis of tumour DNA in the absence of paired normal DNA. Sixty-six breast cancer patients under 45 years of age at diagnosis were examined for MSI at BAT 25 and BAT 26. Tumour DNA was extracted from paraffin-embedded tissue. No MSI was detected at the BAT 25 or BAT 26 loci. An additional five microsatellite markers, known to be informative for HNPCC, were examined for MSI in these patients. Apparently-normal profiles were achieved. A tabulated survey of 306 microsatellite markers used to detect MSI in breast cancer revealed that only 35.5% of markers detected MSI at an average rate of 2.9%. The MSI detection rate at the specific HNPCC markers varied from 0% to 10% in breast cancer, with D175250 and TP53 being the HNPCC markers most suitable for analysis of breast cancer. The size of the microsatellite markers repeat unit did not impact on MSI detection rates. Compiled data from large studies (n>100) revealed D115988 as the marker with the highest MSI detection rate. Genomic instability pathways of carcinogenesis, characterised by MMR defects and MSI, appear to play a role in the genesis of some breast cancer types.

In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results.

In some mild haemophilia A patients (discrepant haemophilia), factor VIII coagulant activity (FVIII:C) levels, by one‐stage assay are more than double than those by two‐stage assay. This may be due to the longer incubation times (10–12 min) in the two‐stage assay. This study aimed to determine the time course of the activation phase of the two‐stage assay, using both classical coagulation and chromogenic detection methods. In both systems, for equivalent patients (equivalent FVIII:C levels by one‐stage and two‐stage assays, n = 6, all different mutations), similar FVIII:C results were obtained with short‐ or long‐incubation times. In contrast, plasma from discrepant patients (n = 8, five different mutations) showed higher FVIII:C at shorter incubation times than after longer incubation times. In the chromogenic assay, FVIII:C levels were higher after incubation for 2 min (23–56%, mean 41%) than after 10 min (19–41%, mean 29%). In the classical coagulation assay, FVIII:C levels were higher at shorter incubation times (21–64%, mean 37%) than with the longer incubation times usually used (13–29%, mean 23%). These time‐course experiments have verified that the longer incubation time used in the two‐stage assay is at least partly responsible for the lower FVIII:C measured by that assay in discrepant haemophilia.

Identification of von Willebrand Disease Type 2N (Normandy) in Australia A Cross-Laboratory Investigation Using Different Methods

We report on a cross-laboratory study of type 2N von Willebrand disease (vWD). We tested 101 selected plasma samples for factor VIII and factor VIII binding activity of von Willebrand factor (vWF). Of these plasma samples, 31 were cotested by 2 specialist centers using different detection procedures for vWF-factor VIII binding: there was good agreement between results obtained by chromogenic assay and enzyme-linked immunosorbent assay. In total, 8 patients with type 2N vWD were identified. The 2-stage factor VIII assay detected a deficiency of factor VIII relative to vWF antigen in all 8 patients; the 1-stage factor VIII assay detected a relative deficiency in only 3 patients. Four patients were homozygous for the most common type 2N mutation (R854Q), 3 patients were presumed to be compound heterozygotes, and in 1 patient no type 2N mutations were identified. In this study of patients from 5 specialist centers in Australia, type 2N vWD was found in 5 families. The 2-stage factor VIII assay was more useful as a screening test than the 1-stage assay, and both vWF-factor VIII binding assays were equally effective.

From little things big things grow: scaling‐up assessment of experiential learning

Purpose – The new economies of the twenty‐first century require new approaches to learning and teaching from higher education (HE). Accordingly many universities have gradually scaled‐up learner‐centred approaches, including flexible delivery and technology‐enhanced learning, from the domains of enthusiasts towards the institutional level. This paper seeks to argue that these new economies and styles of learning and teaching bring similar requirements for scaling of assessment practices in HE, in particular, that it is now time for many universities to consider change initiatives to scale‐up the assessment of experiential learning to the institutional level.Design/methodology/approach – The need to scale‐up assessment of experiential learning in the Australian and international higher HE contexts is discussed and a variety of change initiatives to scale‐up assessment of experiential learning at the University of South Australia is described. These initiatives are explored in the wider context of change ma...

Learning from experience: the realities of developing mathematics courses for an online engineering programme

Rarely do university departments of mathematics redesign their basic mathematics courses. Through developing an online version of our associate degree in engineering in collaboration with Open Universities Australia, we redesigned the first in a sequence of five engineering mathematics courses. The online cohort proved different to our face-to-face experience. We embarked on a process of refining the unit using experiential learning and action research. The 13 week unit is delivered up to four times a year and this paper reviews the first 10 cycles of enhancements over 3 years and unpacks the layers of hypotheses underlying development decisions. Several category themes were identified with a focus on students, teachers and learning activities. Investment in online developments for mathematics can have multiple flow-on impacts for other teaching modes. Good curriculum design, regardless of environment, will always be a cornerstone of effective course development processes.

Reaching the hard places: A three‐year evaluation of the addition of concise online e‐clips into an academic development program

Purpose – The purpose of this paper is to examine current approaches to teaching used in academic development services and consider the diversity of their learners (academic faculty). Faculty engagement with teaching issues and innovations remains a concern for the higher education sector. The academic population contains large numbers of “hard to get at” people, struggling with workload and access issues.Design/methodology/approach – An additional online resource for academic development, called In a nutshell, has been developed and trialed for three years in a variety of contexts. These resources incorporate voices into concise online presentations with links to further resources. Academic viewers can, in private, participate and make informed decisions about whether they need to learn more about a topic, or not.Findings – A measurable improvement in faculty engagement with teaching issues and innovations has been detected that can be directly and indirectly attributed to this change in academic develop...

A Retrospective Study of Viral Status of Human Plasma for Practical Classes

At the University of South Australia, we train health professionals to handle and analyse blood and blood products. Approximately 250 students annually use blood products. Most of these students are inexperienced blood handlers and it is a priority to minimise their exposure to infectious agents. Approximately 65 students per year are enrolled in immunohaematology course. The Australian Red Cross Blood Service in Adelaine (ARCBS) is the source of plasma used to teach red cell antibody screening and identification. Currently, we are using plasma obtained from donors collected after 1991 and stored at –70°C. Before plasma is used in practical classes, the titre and specificity of antibodies to red cell antigens are tested. Commercial reagents may be added to adjust the antibody titre. Because antibody-containing plasma is a finite resource, any plasma mixture surplus after the class is pooled and stored at –70°C for use in subsequent classes. The frozen plasma stock includes plasma collected since 1991 that is currently used for practical classes, and plasma collected between 1972 and 1991 on which only limited screening for infectious agents had been performed. We submitted aliquots of all of our stored plasma to ARCBS for screening for infectious agents.