Sociolinguistic Variation, Language Change and Contact in the British Sign Language (BSL) lexicon

BSL exhibits considerable regional lexical variation. Results from previous studies suggest that there has been a reduction in regional differences since the introduction of BSL on television (Woll et al., 1991) and increased regional contact (Woll, 1987). Based on these findings, this project aims to investigate lexical variation and change in BSL and its relationship to regional contact. Regional variation in the signs for colours, countries, numbers and UK place names were analysed from the BSL Corpus Project data (Schembri et al., under review) to consider their correlation with signers’ age, gender, school location, social class, ethnicity, teaching experience and language background (whether the signer has deaf or hearing parents). The results suggest that levelling may be taking place with younger signers using a decreasing variety of regionally distinct variants. Dialect contact and long-term linguistic accommodation are considered to be contributing factors in levelling (Trudgill, 1986). To investigate this as a possible explanation for language change, 25 pairs of BSL signers from different regional backgrounds were involved in a conversational ‘Diapix’ task (Van Engen et al., 2010) and a comprehension task. Observation of the conversational data reveals that, despite conflicting evidence as to the degree of comprehension of BSL regional varieties (e.g., Kyle & Allsop, 1982; Woll et al., 1991), participants had no difficulties understanding one another. It appears that signers from different regions often rely on English mouthing produced simultaneously with signing to disambiguate the meaning of regional signs. Results also suggest that participants performed best comprehending Birmingham and London varieties. Lexical accommodation was found to be minimal suggesting that language change in BSL is not influenced primarily by contact with other varieties but rather that language change appears to be the result of recent changes in language transmission (i.e., the closure of schools for deaf children

Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome

Background: Glioblastoma (GBM) is the most common malignant brain cancer occurring in adults, and is associated with dismal outcome and few therapeutic options. GBM has been shown to predominantly disrupt three core pathways through somatic aberrations, rendering it ideal for precision medicine approaches. Methods: We describe a 35-year-old female patient with recurrent GBM following surgical removal of the primary tumour, adjuvant treatment with temozolomide and a 3-year disease-free period. Rapid whole-genome sequencing (WGS) of three separate tumour regions at recurrence was carried out and interpreted relative to WGS of two regions of the primary tumour. Results: We found extensive mutational and copy-number heterogeneity within the primary tumour. We identified a TP53 mutation and two focal amplifications involving PDGFRA, KIT and CDK4, on chromosomes 4 and 12. A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour. After sub-clonal diversification, evidence was found for a whole-genome doubling event and a translocation between the amplified regions of PDGFRA, KIT and CDK4, encoded within a double-minute chromosome also incorporating miR26a-2. The WGS analysis uncovered progressive evolution of the double-minute chromosome converging on the KIT/PDGFRA/PI3K/mTOR axis, superseding the IDH1 mutation in dominance in a mutually exclusive manner at recurrence, consequently the patient was treated with imatinib. Despite rapid sequencing and cancer genome-guided therapy against amplified oncogenes, the disease progressed, and the patient died shortly after. Conclusion: This case sheds light on the dynamic evolution of a GBM tumour, defining the origins of the lethal sub-clone, the macro-evolutionary genomic events dominating the disease at recurrence and the loss of a clonal driver. Even in the era of rapid WGS analysis, cases such as this illustrate the significant hurdles for precision medicine success

PTCH1+/− Dermal Fibroblasts Isolated from Healthy Skin of Gorlin Syndrome Patients Exhibit Features of Carcinoma Associated Fibroblasts

Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS) causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human. Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome. In NBCCS patients, as in the general population, ultraviolet exposure is a major risk factor for BCC development. However these patients also develop BCCs in sun-protected areas of the skin, suggesting the existence of other mechanisms for BCC predisposition in NBCCS patients. As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients. WT (n = 3) and NBCCS fibroblasts bearing either nonsense (n = 3) or missense (n = 3) PTCH1 mutations were cultured in dermal equivalents made of a collagen matrix and their transcriptomes were compared by whole genome microarray analyses. Strikingly, NBCCS fibroblasts over-expressed mRNAs encoding pro-tumoral factors such as Matrix Metalloproteinases 1 and 3 and tenascin C. They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts. These data indicate that the PTCH1+/− genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients

Bilateral transient osteoporosis of the knee during pregnancy

Transient osteoporosis is a rare disease, which can affect pregnant women in the third trimester. Bone marrow edema syndrome, transient bone demineralization, hip algodystrophy, regional migratory osteoporosis, and even reflex sympathetic dystrophy all are terms that have been used to describe the condition. Babinsky and Fromen first documented the symptoms of transient osteoporosis in 1916, and in 1959 Curtiss and Kincaid discussed two cases affecting women in the third trimester of pregnancy. The hip joints are most commonly affected in pregnant women, being reported in 76 % of cases

The Tri-Trophic Interactions Hypothesis: Interactive Effects of Host Plant Quality, Diet Breadth and Natural Enemies on Herbivores

Several influential hypotheses in plant-herbivore and herbivore-predator interactions consider the interactive effects of plant quality, herbivore diet breadth, and predation on herbivore performance. Yet individually and collectively, these hypotheses fail to address the simultaneous influence of all three factors. Here we review existing hypotheses, and propose the tri-trophic interactions (TTI) hypothesis to consolidate and integrate their predictions. The TTI hypothesis predicts that dietary specialist herbivores (as compared to generalists) should escape predators and be competitively dominant due to faster growth rates, and that such differences should be greater on low quality (as compared to high quality) host plants. To provide a preliminary test of these predictions, we conducted an empirical study comparing the effects of plant (Baccharis salicifolia) quality and predators between a specialist (Uroleucon macolai) and a generalist (Aphis gossypii) aphid herbivore. Consistent with predictions, these three factors interactively determine herbivore performance in ways not addressed by existing hypotheses. Compared to the specialist, the generalist was less fecund, competitively inferior, and more sensitive to low plant quality. Correspondingly, predator effects were contingent upon plant quality only for the generalist. Contrary to predictions, predator effects were weaker for the generalist and on low-quality plants, likely due to density-dependent benefits provided to the generalist by mutualist ants. Because the TTI hypothesis predicts the superior performance of specialists, mutualist ants may be critical to A. gossypii persistence under competition from U. macolai. In summary, the integrative nature of the TTI hypothesis offers novel insight into the determinants of plant-herbivore and herbivore-predator interactions and the coexistence of specialist and generalist herbivores

Mental toughness

The final publication is available at Springer via https://www.springer.com/gb/book/9783319956800Since the turn of the 21st Century, Mental Toughness has been defined in a variety of ways (e.g. Clough, Earle & Sewell, 2002; Coulter, Mallett & Gucciardi, 2010; Fourie & Potgieter, 2001; Golby & Sheard, 2006; Gucciardi, Gordon & Dimmock, 2008; Jones, Hanton & Connaughton, 2007). Although they differ in many respects, the conceptualisation share a number of similarities. For example, self-belief is at the core of most definitions, motivation is central to most as is persistence in achieving and the ability to deal with setbacks. As such, Mental Toughness is an umbrella term that entails positive psychological resources, which are crucial across a wide range of achievement contexts and in the domain of mental health. Clough and Strycharczyk (2015: 33) suggest that: Mental Toughness is a narrow plastic personality trait which explains in large part how individuals respond differently to the same or similar stressors, pressures, opportunities and challenges… irrespective of prevailing circumstances

Plant defences mediate interactions between herbivory and the direct foliar uptake of atmospheric reactive nitrogen

Reactive nitrogen from human sources (e.g., nitrogen dioxide, NO2) is taken up by plant roots following deposition to soils, but can also be assimilated by leaves directly from the atmosphere. Leaf uptake should alter plant metabolism and overall nitrogen balance and indirectly influence plant consumers; however, these consequences remain poorly understood. Here we show that direct foliar assimilation of NO2 increases levels of nitrogen-based defensive metabolites in leaves and reduces herbivore consumption and growth. These results suggest that atmospheric reactive nitrogen could have cascading negative effects on communities of herbivorous insects. We further show that herbivory induces a decrease in foliar uptake, indicating that consumers could limit the ability of vegetation to act as a sink for nitrogen pollutants (e.g., smog from mobile emissions). Our study suggests that the interactions of foliar uptake, plant defence and herbivory could have significant implications for understanding the environmental consequences of reactive nitrogen

Characteristics of Indigenous primary health care service delivery models: a systematic scoping review

Published online: 25 January 2018Background: Indigenous populations have poorer health outcomes compared to their non-Indigenous counterparts. The evolution of Indigenous primary health care services arose from mainstream health services being unable to adequately meet the needs of Indigenous communities and Indigenous peoples often being excluded and marginalised from mainstream health services. Part of the solution has been to establish Indigenous specific primary health care services, for and managed by Indigenous peoples. There are a number of reasons why Indigenous primary health care services are more likely than mainstream services to improve the health of Indigenous communities. Their success is partly due to the fact that they often provide comprehensive programs that incorporate treatment and management, prevention and health promotion, as well as addressing the social determinants of health. However, there are gaps in the evidence base including the characteristics that contribute to the success of Indigenous primary health care services in providing comprehensive primary health care. This systematic scoping review aims to identify the characteristics of Indigenous primary health care service delivery models. Method: This systematic scoping review was led by an Aboriginal researcher, using the Joanna Briggs Institute Scoping Review Methodology. All published peer-reviewed and grey literature indexed in PubMed, EBSCO CINAHL, Embase, Informit, Mednar, and Trove databases from September 1978 to May 2015 were reviewed for inclusion. Studies were included if they describe the characteristics of service delivery models implemented within an Indigenous primary health care service. Sixty-two studies met the inclusion criteria. Data were extracted and then thematically analysed to identify the characteristics of Indigenous PHC service delivery models. Results: Culture was the most prominent characteristic underpinning all of the other seven characteristics which were identified – accessible health services, community participation, continuous quality improvement, culturally appropriate and skilled workforce, flexible approach to care, holistic health care, and self-determination and empowerment. Conclusion: While the eight characteristics were clearly distinguishable within the review, the interdependence between each characteristic was also evident. These findings were used to develop a new Indigenous PHC Service Delivery Model, which clearly demonstrates some of the unique characteristics of Indigenous specific models.Stephen G. Harfield, Carol Davy, Alexa McArthur, Zachary Munn, Alex Brown and Ngiare Brow