Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

Objective To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 (SOD1) familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS and 560 healthy age-matched controls to assess the variant for association with various measures of disease. Methods Using a previously described bioinformatics evaluation algorithm, a polymorphic short structural variant associated with SOD1 was identified according to its theoretical effect on gene expression. An 12–18 poly-T repeat (rs573116164) within the 3′ untranslated region of serine and arginine rich proteins-related carboxy terminal domain associated factor 4 (SCAF4), a gene that is adjacent to SOD1, was assessed for disease association and influence on survival and age at onset in an fALS cohort using PCR, Sanger sequencing, and capillary separation techniques for allele detection. Results In a North American cohort of predominantly SOD1 fALS patients (n =190) and age-matched healthy controls (n = 560), we showed that carriage of an 18T SCAF4 allele was associated with disease within this cohort (odds ratio [OR] 6.6; 95% confidence interval [CI] 3.9–11.2; p = 4.0e-11), but also within non-SOD1 cases (n = 27; OR 5.3; 95% CI 1.9–14.5; p = 0.0014). This finding suggests genetically SOD1-independent effects of SCAF4 on fALS susceptibility. Furthermore, carriage of an 18T allele was associated with a 26-month reduction in survival time (95% CI 6.6–40.8; p = 0.014), but did not affect age at onset of disease. Conclusions The findings in this fALS cohort suggest that rs573116164 could have SOD1-independent and broader relevance in ALS, warranting further investigation in other fALS and sporadic ALS cohorts, as well as studies of functional effects of the 18T variant on gene expression

Photo-identification confirms that humpback whales (Megaptera novaeangliae) from eastern Australia migrate past New Zealand but indicates low levels of interchange with breeding grounds of Oceania

Recent photo-identification and genetic studies have identified at least five discrete breeding populations in Australia and Oceania: western Australia (D), eastern Australia (E (i)), New Caledonia (E (ii)), Tonga (E (iii)), French Polynesia and the Cook Islands (F). Also evident are low levels of intermingling among breeding populations consistent with the degree of genetic differentiation. Photo-identification has confirmed linkages between Area V feeding areas and eastern Australia breeding grounds and one genotype match has been reported between Area V feeding areas and Oceania breeding grounds. Recent abundance estimates show strong increases in the eastern Australian population, and some recovery in the New Caledonia and Tonga populations, but with little evidence of recovery at other known Oceania breeding grounds or New Zealand. Studies to date have provided no conclusive evidence of the migratory destination of humpback whales passing through New Zealand waters en route between Antarctic feeding areas and tropical breeding grounds. Photo-identification comparisons were undertaken between humpback whale fluke catalogues from eastern Australia (EA, 1315), Oceania east (OE, 513), Oceania west (OW, 166) and New Zealand (NZ, 13). Five matches were found between OE/OW, four matches between OW/EA and three matches between NZ/EA. The data are used to investigate and discuss the migratory destination and breeding ground migratory terchange of humpback whales travelling through New Zealand waters. The data confirm that humpback whales with site fidelity to eastern Australia migrate past New Zealand including through the Cook Strait and Foveaux Strait

Spheres of Practice for the Co-design of Wearables

As expectations within the area of smart textiles increasingly become informed and driven by technological developments, the disciplinary boundaries and relationship between user and technological innovation will unavoidably transform. The authors venture that new paradigms of collaborative practice will inevitably develop between design and science, to more fully realize both the opportunities and contexts that wearable textiles offer. Drawing on previous work by the authors namely Molecular Imprinted Textiles (MIT - 2009/10), Future Textile Visions (FTV - 2010/11), Design Specks: Connecting People with Speckled Computing (2012/13), Second Skin (2013/14), and The S*** Word: Designing the Empathic Underwardrobe (2014), a model is proposed to more clearly understand and navigate between design, technology and application, and more importantly, between our cultural understanding of the user and the wearer. This paper reflects on a series of projects that inform a methodological approach: a process of asking questions; developing scenarios; exploring materials and making; generating concepts and building prototypes. Each project involved collaborations between design, academics, users and industry, and a form of co-design, where knowledge exchange was central, design was the intermediary, and the goal was to understand the drivers and the stakeholders. Simultaneously, this research sought to better understand and communicate the development of more empathic textile and fashion artifacts, and solutions. Co-design in this context is seen as a core approach to shifting the balance from technology as merely adjunct, or as a hook for marketers and users, to a more informed and harmonised position, where technology sits proximally and comfortably. The notion of interdisciplinary understanding, which tracks across domains of product, fashion and textiles, presents an approach where the application is still emerging. Through analysis of this progressive series of projects, the authors suggest that there is an opportunity to explore the inherent connectedness that textiles might offer for the integration and embedding of technology within material as a means to embrace these affordance opportunities. Central to this notion is the realisation of opportunities arising from dialogue and collaborative making (i.e. co-design), and for exploring the transformative notions of the user and the wearer. This paper led the authors to pose a set of questions that align to a four stage design process: Research, Define, Develop, Reflect, to frame findings and insights, and to outline the potential for future opportunities of working with technology to achieve the making and wearing of desirable materializations on the body

Customer emotions in service failure and recovery encounters

Emotions play a significant role in the workplace, and considerable attention has been given to the study of employee emotions. Customers also play a central function in organizations, but much less is known about customer emotions. This chapter reviews the growing literature on customer emotions in employee–customer interfaces with a focus on service failure and recovery encounters, where emotions are heightened. It highlights emerging themes and key findings, addresses the measurement, modeling, and management of customer emotions, and identifies future research streams. Attention is given to emotional contagion, relationships between affective and cognitive processes, customer anger, customer rage, and individual differences

Search for leptophobic Z ' bosons decaying into four-lepton final states in proton-proton collisions at root s=8 TeV

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Search for black holes and other new phenomena in high-multiplicity final states in proton-proton collisions at root s=13 TeV

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Measurements of differential production cross sections for a Z boson in association with jets in pp collisions at root s=8 TeV

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Search for high-mass diphoton resonances in proton-proton collisions at 13 TeV and combination with 8 TeV search

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Search for heavy resonances decaying into a vector boson and a Higgs boson in final states with charged leptons, neutrinos, and b quarks

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