Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?

Objective Several genetic risk variants for ankylosing spondylitis (AS) have been identified in genome-wide association studies. Our objective was to examine whether familial AS cases have a higher genetic load of these susceptibility variants. Methods Overall, 502 AS patients were examined, consisting of 312 patients who had first-degree relatives (FDRs) with AS (familial) and 190 patients who had no FDRs with AS or spondylarthritis (sporadic). All patients and affected FDRs fulfilled the modified New York criteria for AS. The patients were recruited from 2 US cohorts (the North American Spondylitis Consortium and the Prospective Study of Outcomes in Ankylosing Spondylitis) and from the UK-Oxford cohort. The frequencies of AS susceptibility loci in IL-23R, IL1R2, ANTXR2, ERAP-1, 2 intergenic regions on chromosomes 2p15 and 21q22, and HLA-B27 status as determined by the tag single-nucleotide polymorphism (SNP) rs4349859 were compared between familial and sporadic cases of AS. Association between SNPs and multiplex status was assessed by logistic regression controlling for sibship size. Results HLA-B27 was significantly more prevalent in familial than sporadic cases of AS (odds ratio 4.44 [95% confidence interval 2.06, 9.55], P = 0.0001). Furthermore, the AS risk allele at chromosome 21q22 intergenic region showed a trend toward higher frequency in the multiplex cases (P = 0.08). The frequency of the other AS risk variants did not differ significantly between familial and sporadic cases, either individually or combined. Conclusion HLA-B27 is more prevalent in familial than sporadic cases of AS, demonstrating higher familial aggregation of AS in patients with HLA-B27 positivity. The frequency of the recently described non-major histocompatibility complex susceptibility loci is not markedly different between the sporadic and familial cases of AS.

Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis

Vascular endothelial growth factor (VEGF) is an endothelial cell-specific angiogenic protein suspected to be involved in the pathogenesis of endometriosis by establishing a new blood supply to the human exfoliated endometrium. Several transcription factor-binding sites are found in the VEGF 5'-untranslated region and variation within the region increases the transcriptional activity. Six previous studies which tested between one and three single nucleotide polymorphisms (SNPs) in samples comprising 105-215 cases and 100-219 controls have produced conflicting evidence for association between the SNPs in the VEGF region and endometriosis. To further investigate the reported association between VEGF variants and endometriosis, we tested the four VEGF polymorphisms (-2578 A/C, rs699947; -460 T/C, rs833061; +405 G/C, rs2010963 and +936 C/T, rs3025039) in a large Australian sample of 958 familial endometriosis cases and 959 controls. We also conducted a literature-based review of all relevant association studies of these VEGF SNPs in endometriosis and performed a meta-analysis. There was no evidence for association between endometriosis and the VEGF polymorphisms genotyped in our study. Combined association results from a meta-analysis did not provide any evidence for either genotypic or allelic association with endometriosis. Our detailed review and meta-analysis of the VEGF polymorphisms suggests that genotyping assay problems may underlie the previously reported associations between VEGF variants and endometriosis.

Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14

BACKGROUND: Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only about 1% of cases of primary hyperparathyroidism, identification and functional analysis of a causative gene for FIHP is likely to advance our understanding of parathyroid physiology and pathophysiology. METHODS: A genome-wide screen of DNA from seven pedigrees with FIHP was undertaken in order to identify a region of genetic linkage with the disorder. RESULTS: Multipoint linkage analysis identified a region of suggestive linkage (LOD score 2.68) on chromosome 2. Fine mapping with the addition of three other families revealed significant linkage adjacent to D2S2368 (maximum multipoint LOD score 3.43). Recombination events defined a 1.7 Mb region of linkage between D2S2368 and D2S358 in nine pedigrees. Sequencing of the two most likely candidate genes in this region, however, did not identify a gene for FIHP. CONCLUSIONS: We conclude that a causative gene for FIHP lies within this interval on chromosome 2. This is a major step towards eventual precise identification of a gene for FIHP, likely to be a key component in the genetic regulation of calcium homeostasis.

A database ATP simulated waveforms of shunt reactor switching cases with vacuum breakers on motor circuits

This paper presents a database ATP (Alternative Transient Program) simulated waveforms for shunt reactor switching cases with vacuum breakers in motor circuits following interruption of the starting current. The targeted objective is to provide multiple reignition simulated data for diagnostic and prognostic algorithms development, but also to help ATP users with practical study cases and component data compilation for shunt reactor switching. This method can be easily applied with different data for the different dielectric curves of circuit-breakers and networks. This paper presents design details, discusses some of the available cases and the advantages of such simulated data.

Inhibiting outrage: tactics and counter-tactics in legal cases of sexual harassment

Sexual harassment can be conceptualised as an interaction between harassers and targets. Utilising 23 detailed legal transcripts, this study explored evidence of a range of perpetrator tactics and target counter-tactics. These tactics can be readily fitted into the backfire framework, which proposes that powerful perpetrators of perceived unjust acts are likely to cover up the actions, devalue the target, reinterpret the events, use official channels to give an appearance of justice, and intimidate or bribe people involved. Targets can respond using counter-tactics of exposure, validation, reframing, mobilisation of support, and resistance. The findings have implications for raising awareness of harassing tactics and recommendations for effective informal responses in organisations.

Cases from the technology disciplines

This document is a collection of ‘cases’ adapted from interviews with supervisors of higher degree research students from the technology disciplines. The supervisors come from a wide range of sub disciplines and represent many levels of experience. We follow in this document Hammond and Ryland’s (2009)2 suggested ranking of supervision experience:  No completions – No experience or new supervisors, with no doctoral completions as principal supervisor  Experienced – 1 to 5 doctoral completions as principal supervisor  Very experienced – over 6 doctoral completions as principal supervisor The cases focus attention on thinking about supervision as a teaching and learning practice; a dimension of higher degree research supervision that is increasingly being recognized as important. They are offered as prompts for individuals and groups of supervisors in thinking about their supervision as a teaching and learning practice.

Resource for supervisors and cases

The framework presented in the resource is intended to provide technology supervisors with a range of options available to them with respect to supervisory pedagogy. It has been developed to highlight different aspects of thinking about supervision as a teaching and learning practice; as well as approaches, strategies and roles associated with supervision. It will enable technology supervisors to become aware of the diverse options available to them and provide systematic ways of thinking about supervisory practices. Use of this framework will encourage supervisors to make choices based on broader, rather than more limited, repertoires. It will also encourage thinking about supervision as a teaching and learning practice.

In vivo practice for needle phobia : report on two cases

Describes case studies of 2 males (aged 28 and 30 yrs) in which in vivo practice was applied to needle phobia and associated vasovagal fainting. In vivo practice combines skill acquisition with an opportunity to disconfirm negative expectations. Substantial improvements in self-efficacy, anxiety, and performance were obtained. Treatment gains generalized to other settings and were maintained at 3–6 mo follow-up. In vivo practice is recommended for further research into needle phobias.

Journalism Ethics : Arguments and Cases

Hirst and Patching's second edition of Journalism Ethics: Arguments and Cases provides a fully updated exploration of the theory and practice of ethics in journalism. The authors situate modern ethical dilemmas in their social and historical context, which encourages students to think critically about ethics across the study and practice of journalism. Using a unique political economy approach, the text provides students with a theoretical and philosophical understanding of the major ethical dilemmas in journalism today. It commences with a newly recast discussion of theoretical frameworks, which explains the complex concepts of ethics in clear and comprehensive terms. It then examines the 'fault lines' in modern journalism, such as the constant conflict between the public service role of the media, and a journalist's commercial imperative to make a profit. All chapters have been updated with new examples, and many new cases demonstrating the book's theoretical underpinnings have been drawn from 'yesterday's headlines'. These familiar cases encourage student engagement and classroom discussion, and archived cases will still be available to students on an Online Resource Centre. Expanded coverage of the 'War on Terror', issues of deception within journalism, and infotainment and digital technology is included.

Recent cases on intoxication

Intoxication of a plaintiff raises many issues in a negligence action – duty of care, breach of duty, causation and the defence of contributory negligence. Recently intoxication has been examined by the Full Court of Tasmania in relation to duty and breach and by the New South Wales Court of Appeal in respect of causation and contributory negligence.

Factors affecting entry-level Internet technology adoption by small business in Australia : evidence from three cases

The adoption of Internet technologies by the small business sector (SMEs)The adoption of Internet technologies by the small business sector is important to their on-going survival. Yet, given the opportunities and benefits that Internet technologies can provide it has been shown that Australian small businesses are relatively slow in adopting them. This paper develops a model from recent literature on the facilitators and inhibitors to the adoption of Internet technologies by small business. Cross-case analysis of findings from three case studies are presented. Findings indicate that perceived lack of business benefit, mistrust of the IT industry and lack of understanding of Internet technologies are major inhibitors to Internet adoption by small business.