Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Abstract Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9.

Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries

Several studies have demonstrated an association between polycystic ovary syndrome (PCOS) and the dinucleotide repeat microsatellite marker D19S884, which is located in intron 55 of the fibrillin-3 (FBN3) gene. Fibrillins, including FBN1 and 2, interact with latent transforming growth factor (TGF)-β-binding proteins (LTBP) and thereby control the bioactivity of TGFβs. TGFβs stimulate fibroblast replication and collagen production. The PCOS ovarian phenotype includes increased stromal collagen and expansion of the ovarian cortex, features feasibly influenced by abnormal fibrillin expression. To examine a possible role of fibrillins in PCOS, particularly FBN3, we undertook tagging and functional single nucleotide polymorphism (SNP) analysis (32 SNPs including 10 that generate non-synonymous amino acid changes) using DNA from 173 PCOS patients and 194 controls. No SNP showed a significant association with PCOS and alleles of most SNPs showed almost identical population frequencies between PCOS and control subjects. No significant differences were observed for microsatellite D19S884. In human PCO stroma/cortex (n = 4) and non-PCO ovarian stroma (n = 9), follicles (n = 3) and corpora lutea (n = 3) and in human ovarian cancer cell lines (KGN, SKOV-3, OVCAR-3, OVCAR-5), FBN1 mRNA levels were approximately 100 times greater than FBN2 and 200–1000-fold greater than FBN3. Expression of LTBP-1 mRNA was 3-fold greater than LTBP-2. We conclude that FBN3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs and that this may be influencing the PCOS phenotype.

Bioimpedance in the assessment of unilateral lymphedema of a limb: the optimal frequency

Background: Bioimpedance techniques provide a reliable method of assessing unilateral lymphedema in a clinical setting. Bioimpedance devices are traditionally used to assess body composition at a current frequency of 50 kHz. However, these devices are not transferable to the assessment of lymphedema, as the sensitivity of measuring the impedance of extracellular fluid is frequency dependent. It has previously been shown that the best frequency to detect extracellular fluid is 0 kHz (or DC). However, measurement at this frequency is not possible in practice due to the high skin impedance at DC, and an estimate is usually determined from low frequency measurements. This study investigated the efficacy of various low frequency ranges for the detection of lymphedema. Methods and Results: Limb impedance was measured at 256 frequencies between 3 kHz and 1000 kHz for a sample control population, arm lymphedema population, and leg lymphedema population. Limb impedance was measured using the ImpediMed SFB7 and ImpediMed L-Dex® U400 with equipotential electrode placement on the wrists and ankles. The contralateral limb impedance ratio for arms and legs was used to calculate a lymphedema index (L-Dex) at each measurement frequency. The standard deviation of the limb impedance ratio in a healthy control population has been shown to increase with frequency for both the arm and leg. Box and whisker plots of the spread of the control and lymphedema populations show that there exists good differentiation between the arm and leg L-Dex measured for lymphedema subjects and the arm and leg L-Dex measured for control subjects up to a frequency of about 30 kHz. Conclusions: It can be concluded that impedance measurements above a frequency of 30 kHz decrease sensitivity to extracellular fluid and are not reliable for early detection of lymphedema.

Information literacy programs and research : an international review

This paper provides an overview of contemporary information literacy research and practice. While the content is highly selective, the intention has been to highlight international and Australian developments which have achieved significant recognition, which are representative of similar trends in other places, or which are unique in some way. There are three main foci in the paper. Firstly, an exploration of ways of interpreting the idea of information literacy. Secondly, a synthesis of various efforts to seek new directions in educational, community and workplace contexts, beginning with the major initiatives being undertaken in the United States. Thirdly, an introduction to some recent research, concluding with a summary of my own investigation into different ways of experiencing information literacy

Information literacy research : dimensions of the emerging collective consciousness

Information literacy researchers are beginning to develop a collective consciousness, a consciousness that represents the newly appearing territory of information literacy research. This paper analyses the information literacy research territory as it is represented by the emerging collective consciousness of information literacy researchers. Five dimensions of the collective consciousness are proposed: 1) the sectoral location of the research, 2) ways of seeing information literacy, 3) ‘what’ is being investigated; that is the research object, 4) ‘how’ the object is being investigated; that is the research approaches and paradigms, and 5) disciplinary influences. These dimensions are used to: 1) reveal the character of the information literacy research territory which is in early stages of construction; 2) show how different kinds of research approaches can shed different kinds of light on the object of research; and 3) demonstrate how the five dimensions work together in the development of new studies.

Multiculturalism, education for sustainable development (ESD) and the shifting discursive landscape of social inclusion

Australia has a long and sometimes turbulent relationship with the migrant Other. This paper examines a component of this relationship via the window of contemporary multicultural policy. The paper begins with an analysis of the political and social conditions that enabled a national and bipartisan policy of multiculturalism to emerge as formalised federal policy during the late 1960s and early 1970s. The paper re-problematises the influences that helped shape Australia's articulation of race and ethnicity and argues that multiculturalism, within a post-September 11 environment, can no longer be framed solely within its traditional framework of social justice. The paper positions education for sustainable development (ESD) as an emerging discursive field that provides educators with an alternative road map for critiquing Australia's fluid relationship with the migrant Other. By linking the tenets of multiculturalism with ESD, this paper suggests pre-service teacher educators are presented with a productive, and at the same time politically palatable, means for regaining pedagogical traction for a semi-dormant agenda of social inclusion.

Academic faculty’s teaching social networks : what is the extent of library faculty’s inclusion?

Collaboration between academic and library faculty is an important topic of discussion and research among academic librarians. Partnerships are vital for developing effective information literacy education. The research reported in this paper aims to develop an understanding of academic collaborators by analyzing academic faculty’s teaching social network. Academic faculty teaching social networks have not been previously described through the lens of social network analysis. A teaching social network is comprised of people and their communication channels that affect academic faculty when they design and deliver their courses. Social network analysis was the methodology used to describe the teaching social networks. The preliminary results show academic faculty were more affected by the channels of communication in how they taught (pedagogy) than what they taught (course content). This study supplements the existing research on collaboration and information literacy. It provides both academic and library faculty with added insight into their relationships.

Towards an automatic system for road lane marking extraction in large-scale aerial images acquired over rural areas by hierarchical image analysis and Gabor filter

An automatic approach to road lane marking extraction from high-resolution aerial images is proposed, which can automatically detect the road surfaces in rural areas based on hierarchical image analysis. The procedure is facilitated by the road centrelines obtained from low-resolution images. The lane markings are further extracted on the generated road surfaces with 2D Gabor filters. The proposed method is applied on the aerial images of the Bruce Highway around Gympie, Queensland. Evaluation of the generated road surfaces and lane markings using four representative test fields has validated the proposed method.

Informed learning : a catalyst for change in theological libraries

This paper discusses the potential interest of informed learning as a catalyst for change in theological libraries. Informed learning is a label for the relational approach to information literacy and information literacy education. It was created to highlight the importance of simultaneous attention to both information and learning when we consider peoples’ experiences in their information rich lives. The paper explores the idea of informed learning, suggesting that serious attention to informed learning experiences may challenge our thinking about our role as information professionals and the ways in which we serve our clients. The paper then moves to explore our current understandings of informed learning in faith communities and suggests some ways in which theological librarians can work to build informed communities.

Identifying and delineating information experience as a research domain : A discussion paper

A line of information and information literacy research has emerged that has a strong focus on information experience. Strengthened understanding, profiling and theorising of information experience as a specific domain of interest to information researchers is required. A focus on information experience is likely to have a major influence on the field, drawing attention to interpretive and experiential forms of research.

State of the art and future challenges for information literacy research

This short paper focuses on strategic issues and important research questions.

Centrifuging rotary vacuum filter mud at Tully Mill

Disposal of mud and ash, particularly in wet weather conditions, is a significant expense for mills. This paper reports on one part of a process to pelletise mud and ash, aimed at making mud and ash more attractive to growers across entire mill districts. The full process is described in a separate paper. The part described in this paper involves re-constituting mud cake from the filter station at Tully Mill and processing it in a decanter centrifuge. The material produced by re-constituting and centrifuging is drier and made up of separate particles. The material needs to mix easily with boiler ash, and the mixture needs to be fed easily into a flue gas drier to be dried to low moisture. The results achieved with the particular characteristics of Tully Mill rotary vacuum filter cake are presented. It was found that an internal rotor with a 20º beach was not adequate to process re-constituted rotary vacuum filter mud. A rotor with a 10º beach worked much more successfully. A total of four tonnes of centrifuged mud with a moisture content ranging from 60% to 65% was produced. It was found that the torque, flocculant rate and dose rate had a statistically significant effect on the moisture content. Feed rate did not have a noticeable impact on the moisture content by itself but torque had a much larger impact on the moisture content at the low feed rate than at the high feed rate. These results indicated that the moisture content of the mud can most likely be reduced with low feed rate, low flocculant rate, high dose rate and high torque. One issue that is believed to affect the operation of a decanter centrifuge was the large quantity of long bagasse fibres in the rotary vacuum filter mud. It is likely that the long fibres limited the throughput of the centrifuge and the moisture achieved.