Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk

BACKGROUND Endometriosis is a polygenic disease with a complex and multifactorial aetiology that affects 8-10% of women of reproductive age. Epidemiological data support a link between endometriosis and cancers of the reproductive tract. Fibroblast growth factor receptor 2 (FGFR2) has recently been implicated in both endometrial and breast cancer. Our previous studies on endometriosis identified significant linkage to a novel susceptibility locus on chromosome 10q26 and the FGFR2 gene maps within this linkage region. We therefore hypothesized that variation in FGFR2 may contribute to the risk of endometriosis. METHODS We genotyped 13 single nucleotide polymorphisms (SNPs) densely covering a 27 kb region within intron 2 of FGFR2 including two SNPs (rs2981582 and rs1219648) significantly associated with breast cancer and a total 40 tagSNPs across 150 kb of the FGFR2 gene. SNPs were genotyped in 958 endometriosis cases and 959 unrelated controls. RESULTS We found no evidence for association between endometriosis and FGFR2 intron 2 SNPs or SNP haplotypes and no evidence for association between endometriosis and variation across the FGFR2 gene. CONCLUSIONS Common variation in the breast-cancer implicated intron 2 and other highly plausible causative candidate regions of FGFR2 do not appear to be a major contributor to endometriosis susceptibility in our large Australian sample.

Is there a physicality requirement at Common Law? : a survey of the Pre-NRDC cases discussing ‘Manufacture’

One of the fundamental issues that remains unresolved in patent law today, both in Australia and in other jurisdictions, is whether an invention must produce a physical effect or cause a physical transformation of matter to be patentable, or whether it is sufficient that an invention involves a specific practical application of an idea or principle to achieve a useful result. In short, the question is whether Australian patent law contains a physicality requirement. Despite being recently considered by the Federal Court, this is arguably an issue that has yet to be satisfactorily resolved in Australia. In its 2006 decision in Grant v Commissioner of Patents, the Full Court of the Federal Court of Australia found that the patentable subject matter standard is rooted in the physical, when it held that an invention must involve a physical effect or transformation to be patent eligible. That decision, however, has been the subject of scrutiny in the academic literature. This article seeks to add to the existing literature written in response to the Grant decision by examining in detail the key common law cases decided prior to the High Court’s watershed decision in National Research Development Corporation v Commissioner of Patents, which is the undisputed authoritative statement of principle in regards to the patentable subject matter standard in Australia. This article, in conjunction with others written by the author, questions the Federal Court’s assertion in Grant that the physicality requirement it established is consistent with existing law.

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.

Revealing common attributes of organizational identities using performance measurement systems

Identity is unique, multiple and dynamic. This paper explores common attributes of organisational identities, and examines the role of performance management systems (PMSs) on revealing identity attributes. One of the influential PMSs, the balanced scorecard, is used to illustrate the arguments. A case study of a public-sector organisation suggests that PMSs now place a value on the intangible aspects of organisational life as well as the financial, periodically revealing distinctiveness, relativity, visibility, fluidity and manageability of public-sector identities that sustain their viability. This paper contributes to a multi-disciplinary approach and its practical application, demonstrating an alternative pathway to identity-making using PMSs.

Case studies of statutory interventions into the common law concept of charity

This paper considers four examples of statutory interventions into the common law concept of charity, namely, those of Pennsylvania, Barbados, the definition recommended by the Report of the Inquiry into the Definition of Charities in Australia, and the Recreational Charities legislation of the United Kingdom. It comments on some issues affecting each style of intervention. The paper does not argue against statutory intervention but submits that legislative changes are best made by deeming a particular purpose to be charitable, or not charitable, so that, except to that extent, the common law concept remains intact – this is the approach adopted by the Recreational Charities legislation.

Comparing: knowledge-based urban development of Vancouver, Melbourne, Manchester and Boston

The research reported in this paper introduces a knowledge-based urban development assessment framework, which is constructed in order to evaluate and assist in the (re)formulation of local and regional policy frameworks and applications necessary in knowledge city transformations. The paper also reports the findings of an application of this framework in a comparative study of Boston, Vancouver, Melbourne and Manchester. The paper with its assessment framework: demonstrates an innovative way of examining the knowledge-based development capacity of cities by scrutinising their economic, socio-cultural, enviro-urban and institutional development mechanisms and capabilities; presents some of the generic indicators used to evaluate knowledge-based development performance of cities; reveals how a city can benchmark its development level against that of other cities, and; provides insights for achieving a more sustainable and knowledge-based development.

Detecting common dynamics in transitory components

This paper considers VECMs for variables exhibiting cointegration and common features in the transitory components. While the presence of cointegration between the permanent components of series reduces the rank of the long-run multiplier matrix, a common feature among the transitory components leads to a rank reduction in the matrix summarizing short-run dynamics. The common feature also implies that there exists linear combinations of the first-differenced variables in a cointegrated VAR that are white noise and traditional tests focus on testing for this characteristic. An alternative, however, is to test the rank of the short-run dynamics matrix directly. Consequently, we use the literature on testing the rank of a matrix to produce some alternative test statistics. We also show that these are identical to one of the traditional tests. The performance of the different methods is illustrated in a Monte Carlo analysis which is then used to re-examine an existing empirical study. Finally, this approach is applied to provide a check for the presence of common dynamics in DSGE models.

Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)

Background The gene composition, gene order and structure of the mitochondrial genome are remarkably stable across bilaterian animals. Lice (Insecta: Phthiraptera) are a major exception to this genomic stability in that the canonical single chromosome with 37 genes found in almost all other bilaterians has been lost in multiple lineages in favour of multiple, minicircular chromosomes with less than 37 genes on each chromosome. Results Minicircular mt genomes are found in six of the ten louse species examined to date and three types of minicircles were identified: heteroplasmic minicircles which coexist with full sized mt genomes (type 1); multigene chromosomes with short, simple control regions, we infer that the genome consists of several such chromosomes (type 2); and multiple, single to three gene chromosomes with large, complex control regions (type 3). Mapping minicircle types onto a phylogenetic tree of lice fails to show a pattern of their occurrence consistent with an evolutionary series of minicircle types. Analysis of the nuclear-encoded, mitochondrially-targetted genes inferred from the body louse, Pediculus, suggests that the loss of mitochondrial single-stranded binding protein (mtSSB) may be responsible for the presence of minicircles in at least species with the most derived type 3 minicircles (Pediculus, Damalinia). Conclusions Minicircular mt genomes are common in lice and appear to have arisen multiple times within the group. Life history adaptive explanations which attribute minicircular mt genomes in lice to the adoption of blood-feeding in the Anoplura are not supported by this expanded data set as minicircles are found in multiple non-blood feeding louse groups but are not found in the blood-feeding genus Heterodoxus. In contrast, a mechanist explanation based on the loss of mtSSB suggests that minicircles may be selectively favoured due to the incapacity of the mt replisome to synthesize long replicative products without mtSSB and thus the loss of this gene lead to the formation of minicircles in lice.

A common neighbour based two-way collaborative recommendation method

Traditional recommendation methods offer items, that are inanimate and one way recommendation, to users. Emerging new applications such as online dating or job recruitments require reciprocal people-to-people recommendations that are animate and two-way recommendations. In this paper, we propose a reciprocal collaborative method based on the concepts of users' similarities and common neighbors. The dataset employed for the experiment is gathered from a real life online dating network. The proposed method is compared with baseline methods that use traditional collaborative algorithms. Results show the proposed method can achieve noticeably better performance than the baseline methods.