Suggestive linkage of 2p22-25 and 11q12-13 with low bone mineral density at the lumbar spine in the Irish population

Osteoporosis is a disease characterized by low bone mineral density (BMD) and poor bone quality. Peak bone density is achieved by the third decade of life, after which bone is maintained by a balanced cycle of bone resorption and synthesis. Age-related bone loss occurs as the bone resorption phase outweighs the bone synthesis phase of bone metabolism. Heritability accounts for up to 90% of the variability in BMD. Chromosomal loci including 1p36, 2p22-25, 11q12-13, parathyroid hormone receptor type 1 (PTHR1), interleukin-6 (IL-6), interleukin 1 alpha (IL-1α) and type II collagen A1/vitamin D receptor (COL11A1/VDR) have been linked or shown suggestive linkage with BMD in other populations. To determine whether these loci predispose to low BMD in the Irish population, we investigated 24 microsatellite markers at 7 chromosomal loci by linkage studies in 175 Irish families of probands with primary low BMD (T-score ≤ -1.5). Nonparametric analysis was performed using the maximum likelihood variance estimation and traditional Haseman-Elston tests on the Mapmaker/Sibs program. Suggestive evidence of linkage was observed with lumbar spine BMD at 2p22-25 (maximum LOD score 2.76) and 11q12-13 (MLS 2.55). One region, 1p36, approached suggestive linkage with femoral neck BMD (MLS 2.17). In addition, seven markers achieved LOD scores > 1.0, D2S149, D11S1313, D11S987, D11S1314 including those encompassing the PTHR1 (D3S3559, D3S1289) for lumbar spine BMD and D2S149 for femoral neck BMD. Our data suggest that genes within a these chromosomal regions are contributing to a predisposition to low BMD in the Irish population.

Mixed reality stories: How creative writers integrate virtual and physical realities

Mixed reality stories (MRS) unfold simultaneously in the physical and the virtual world. Advancements in digital technologies, which are now able to capture more contextual information about our physical environments, are enabling novel ways of blending the two worlds. To explore the process of creating stories from this perspective, we conducted a study with creative writers, in which we asked them to write a MRS script for outdoor running. While we saw instances of intentional connections between physical and virtual worlds in their work, we also observed the use of ambiguity or even deliberate contradiction with available contextual information. In this paper we discuss how these approaches can be beneficial for MRS and propose directions for future work.

Can an Ecdysiast Fag speak the voice of transgender? Phoenix (un)rising and the assumptions in Re Kevin revisited

"Each night the men look so surprised I change my sex before their eyes Tell me if you can What makes a man a man" - Charles Aznavour, ‘What makes a man a man (Comme ils disent)’. In (the few) Western jurisdictions in which marriage remains a forensic artefact constructed on the basis of a man|woman binary, the anatomical and heteronormative assumptions which underlie the construction of marriage remain as artificial constructs which do not map well (if indeed at all) to current social, or even medical, approaches to gender. In Re Kevin (Validity of Marriage of Transsexual) [2001] FamCA 1074, Justice Chisolm sought to recast the forensic ascription of sex against a broader set of criteria, expanding the range of sexually dimorphic anatomy used to determine sex for the purposes of marriage in Australia and incorporating observations of psycho-social gender-differentiation as factors relevant to the ultimate question for the Court — ‘What makes a man a man?’ Yet neither expansion is unproblematic. This article explores this fundamental forensic question against the background of Aznavour’s ‘Comme ils dissent’, in which the persona of un(e) stripteaseuse travesti struggles to answer precisely the same question. It concludes that Re Kevin might offer no more sophisticated an analysis of the lived reality of trans than Aznavour’s ecdysiast fag — not trans, but un travesti: "I shop and cook and sew a bit Though mum does too, I must admit I do it better."

Learning to write: Analysing writing samples as part of considering how children become writers

This chapter draws on a large data set of children's work samples collected as part of a five-year school reform project in a community of high poverty. One component of the data set from this project is a corpus of more than 2000 writing samples collected from students across eight grade levels (Prep to year 7) annually, across four years of the project (2009-2013). This paper utilises a selection of these texts to consider insights available to teachers and schools through a simple process of collecting and assessing writing samples produced by children over time. The focus is on what samples of writing might enable us to know and understand about learning and teaching this important dimension of literacy in current classrooms.

HER2 positive gastric and gastroesophageal adenocarcinoma; An Irish tertiary center experience

Background: Trastuzumab has been approved for patients with human epidermal growth factor receptor 2 (HER2) over expression and gene amplification metastatic gastric cancer. Here we present the prevalence of HER2 positive gastric cancer in an Irish population, the use of Trastuzumab in first line and beyond progression. Methods: The study was conducted in St James's Hospital, Dublin. A retrospective analysis of the date of patients with HER2 positive gastric cancer over a period of 3 years was carried out. Her2 positive was defined as immunohistochemistry (IHC) score of +3, of IHC score of +2 and increased gene copy number by fluorescence in situ hybridization (FISH). Overall survival was calculated from the day of initiation of treatment with Trastuzumab until death. Results: During the study period 140 patients with gastric and gastro-esophageal junction adenocarcinoma were treated. Out of those, 30 (21.4%) had HER2 positive disease. Among HER2 positive disease patients 18 (12.8%) were treated with first line Trastuzumab containing regimen with a median overall survival of 13 months. Nine (50%) developed progressive disease while on Trastuzumab and of those, 4 (22.2%) patients continued on Trastuzumab beyond progression, two (11.1%) of whom achieved stable disease and a prolonged survival. Conclusion: HER2 positivity rate in an Irish population with advanced gastric and gastro-esophageal junction adenocarcinoma is 21.4%. Treatment with Trastuzumab in the first line in combination with chemotherapy is a reasonable approach. Continuation of Trastuzumab beyond progression is a feasible strategy that requires further exploration.