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SummaryData extraction from unmanned aerial vehicle (UAV) imagery has proved effective in animal surveys and monitoring, but to date has scarcely been used for detailed population analysis and individual animal feature extraction. We assessed the zoometric and feature extraction of the Arabian oryx (Oryx leucoryx) using data acquired from a captive population for comparison with reintroduced populations monitored by UAVs. Highly accurate scaled and geo-rectified imagery derived from UAV surveys allowed precise morphometric measurements of the oryx. The scaled top-view imagery combined with baseline data from known sex, age, weight and pregnancy status of captive individuals were used to develop predictive models. A bracketed index developed from the predictive models showed high accuracy for classifying the age group ≤16 months, animals with a weight >80 kg and pregnancy. The pregnancy classification decision tree model performed with 91.7% accuracy. The polynomial weight predictive model performed well with relatively high accuracy when using the total top-view surface measurement. Photogrammetrically processed UAV-acquired imagery can yield valuable zoometric data, feature extraction and modelling; it is a tool with a practical application for field biologists that can assist in the decision-making process for species conservation management.

Among the dairy sector's current concerns, the as-sessment of global animal health status is a complex challenge. Its multidimensionality means that global monitoring tools are rarely considered. Instead, specific disease detection is often studied separately and, due to financial and ethical issues, uses small-scale data sets focusing on few biomarkers. Several studies have already been conducted using milk Fourier transform mid-infrared (FT-MIR) spectroscopy to detect mastitis and lameness or to quantify health-related biomarkers in milk or blood. Those studies are relevant but they focus mainly on one biomarker or disease. To solve this issue and the small-scale data set, in this study, we proposed a holistic approach using big data obtained from milk recording, including milk yield, somatic cell count, and 27 FT-MIR-based predictors related to milk composition and animal health status. Using 740,454 records collected from 114,536 first-parity Holstein cows in southern Belgium, we performed repeated unsupervised learning algorithms based on Ward's agglomerative hierarchical clustering method to find potential interesting patterns. A divide-and-conquer approach was used to overcome the limitation of computational resources in clustering a relatively large data set. Five groups of records were identified. Differences observed in the fourth group suggested a relationship to metabolic disorders. The fifth group seemed to be related to mastitis. In a second step, we performed a partial least squares discriminant analysis (PLS-DA) to predict the probability of belonging to those specific groups for the entire data set. The obtained global ac-curacy was 0.77 and the balanced accuracy (i.e., the mean between sensitivity and specificity) of discrimi-nating the fourth and fifth groups was 0.88 and 0.96, respectively. Then, a validation of the interpretation of those groups was performed using 204 milk and blood reference records. The predicted probability associated with the metabolic disorders issue had significant cor-relations of 0.54 with blood beta-hydroxybutyrate, 0.44 with blood nonesterified fatty acids, -0.32 with blood glucose, -0.23 with milk glucose-6-phosphate, and 0.38 with milk isocitrate. In contrast, the predicted prob-ability of belonging to the mastitis group had correla-tions of 0.69 with milk lactate dehydrogenase, 0.46 with milk N-acetyl-beta-D-glucosaminidase, -0.18 with milk free glucose, and 0.16 with milk glucose-6-phosphate. Consequently, these results suggest that the obtained quantitative traits indirectly reflect some of the main health disorders in dairy farming and could be used to monitor dairy cows on a large scale. By using unsuper-vised learning on large-scale milk recording data and then validating the pattern using reference laboratory measures, we propose a new approach to quickly assess dairy cow health status.

Background Patients enrolled in randomised controlled trials (RCTs) may differ from the target population due to restricted eligibility criteria. Aim To compare treatment response to biologics in routine practice for children with inflammatory bowel diseases (IBD) who would and would not have been eligible for enrolment in the regulatory RCT of the same drug. Methods We enrolled children with IBD who initiated adalimumab, infliximab, vedolizumab or ustekinumab. The eligibility criteria as defined in the RCT of the corresponding biologic were applied to each patient. The primary outcome was 12-month steroid-free remission (SFR) without switching biologics or undergoing surgery. Results We screened 289 children (198 [68%] with Crohn's disease [CD], 91 [32%] with ulcerative colitis [UC]) with 326 initiations of biologics. Only 62 of 164 (38%) children with moderate-to-severe disease would have been eligible for inclusion in the original RCTs. The SFR rate was higher in the eligible children (51%) than in the ineligible children (31%; OR 2.3 [95%CI 1.2-4.5]; p = 0.01). The main exclusion criterion was prohibited previous therapies (47%). Ineligible CD patients were older, more often had a family history of IBD and had higher levels of CRP than eligible children; in UC there were no differences between the groups. Conclusion Most children with IBD who initiate biologics would not have been eligible to be included in the corresponding regulatory RCTs. The outcomes of ineligible patients were worse than for eligible patients. Results from RCTs should be interpreted with caution when applied to clinical practice.

This work aims at investigating the role of tungsten and boron surfaces on ammonia production with N2textendash H2 radiofrequency plasmas at 3 Pa. The experiments combine the analysis of the reaction products and surface chemical environment using mass spectrometry and x-ray photoelectron spectroscopy (XPS). We show that NH3 is formed upon discharges of N2 or H2 after having exposed a tungsten (W) foil to H2 or N2, respectively. A higher amount of ammonia is formed for the N2-then-H2 case, which we explain by the larger number of Eleytextendash Rideal reaction channels for the formation of NH x (s) and the lower surface diffusion barrier for adsorbed hydrogen, calculated using the density functional theory (DFT). As a result, H(s) combines with N(s) or NH x (s) through Langmuirtextendash Hinshelwood at a faster rate than N(s) combines with another N(s). The amount of NH3 formed with N2textendash H2 discharges after conditioning the tungsten foil with H2, N2 or O2 was also investigated. We observed that this pre-conditioning plays no major role on the amount of NH3 detected with the residual gas analyser, albeit a small decrease was observed after H2 contamination. With DFT, the adsorption energies of H on WO3 and W are found to be similar, while the adsorption of N on WO3 is significantly weaker. The similar NH3 concentrations obtained with a clean and oxidized tungsten surface thus suggest that the adsorption of N does not limit the formation rate of ammonia. The production of NH3 on boron was evaluated as well. The boron surface reduced the amount of detected ammonia almost by half. On the one side, a significant amount of H2 was removed from the surface during the Ar cleaning that followed, which suggests a strong retention of hydrogen. On the other side, the XPS data reveals that nitrogen forms strong bonds with boron and impurities on the surface, regardless on whether hydrogen is previously present on the surface or in the plasma volume. The presence of hydrogen in the plasma volume, simultaneously with nitrogen or after nitrogen exposure, is nevertheless necessary for the formation of NH(s) and NH2(s). No NH3(s) was however detected with XPS. The increased retention of both hydrogen and nitrogen on the boron surface may thus hinder the formation of NH3.

Supplemental material, sj-pdf-1-jbx-10.1177_24725552211018198 for A High-Content Screening Assay for Small Molecules That Stabilize Mutant Triose Phosphate Isomerase (TPI) as Treatments for TPI Deficiency by Andreas Vogt, Samantha L. Eicher, Tracey D. Myers, Stacy L. Hrizo, Laura L. Vollmer, E. Michael Meyer and Michael J. Palladino in SLAS Discovery

The novel coronavirus disease (COVID-19) has caused a pandemic that has disrupted supply chains globally. This black swan event is challenging industries from all sectors of the economy including those industries directly needed to produce items that safeguard us from the disease itself, especially personal protection equipment (N95 masks, face shields) and much needed consumables associated with testing and vaccine delivery (swabs, vials and viral transfer medium). Digital manufacturing, especially 3D printing, has been promulgated as an important approach for the rapid development of new products as well as a replacement manufacturing technique for many traditional manufacturing methods, including injection molding, when supply chains are disrupted. Herein we report the use of Digital Light Synthesis (DLS) for the design and large-scale deployment of nasopharyngeal (NP) swabs for testing of coronavirus SARS-CoV-2 infections in humans. NP swabs have been one of society’s essential products hardest hit by the supply chain disruptions caused by COVID-19. A latticed tip NP swab was designed and fabricated by DLS from a liquid resin previously developed and approved for use to make dental night guard devices. These latticed NP swabs demonstrated non-inferiority in a human clinical study of patients suspected of being infected with SARS-CoV-2.

Additional file 1: Table S1. Associations between the variables of the experiment and plate counts (log CFU/mL) after ciprofloxacin treatment.

Additional file 4: Table S3. Associations between the variables of the experiment and the viability of the live and intermediate Escherichia coli isolates’ subpopulations (%) after ciprofloxacin treatment.

Additional file 2: Table S2. Viability (%) results of both live and dead controls of each Escherichia coli isolate, expressed as mean +/− standard deviation.

© 2019 John Wiley & Sons Ltd Academics are increasingly required to balance the expectations of the ‘old’ academy with a future model of universities as interdisciplinary and transdisciplinary ‘problem solvers’. This paper highlights changing expectations of academics in producing alternative research outcomes in collaborative, practice-based research. Through a series of workshops with 20 researchers, preferred research outcomes and tensions in achieving these outcomes were identified. The tensions identified are presented as three dichotomies comprising the tension between: (a) ‘I versus We’ - individual versus team expectations & outcomes. (b) Disciplinary outcomes versus inter-/transdisciplinary outcomes. (c) Learning versus research objectives for the students and academics involved. These tensions reflect the authors' experiences of working in three international sustainability projects, drawing on lessons learned from these projects, with recommendations for universities seeking to implement interdisciplinary and transdisciplinary doctoral and postdoctoral programmes. Recommendations include the need for formal and informal leadership models, strong communication skills, empathy and willingness to learn from each other. A need for more systemic changes within university administration to better reward and value the breadth and depth of collaborative work, while facilitating open learning cultures and practice-oriented learning opportunities and curricula across faculties was also identified.

Additional file 5: Figure S2. Example of a FSC-A/SSC-A dot plots to define the total bacterial population (A) and a SSC-A/SSC-H dot plot to exclude doublets and debris (B).

Additional file 3: Figure S1. Illustrative flow cytometric DIBAC4 (3) (FITC-A)/PI (PC5.5A) dot plots representing a live and dead control.

The World Wide Web is enormous and in constant flux, with more web content lost to time than is currently accessible via the live web. The growing body of archived web material available to researchers is potentially immensely valuable as a record of important aspects of modern society, but there have previously been few tools available to facilitate research using archived web materials. The research presented in this chapter used hyperlink data extracted from the Jisc UK Web Domain Dataset covering the period from 1996 to 2010 to undertake a longitudinal analysis of the United Kingdom (UK) national web domain, .uk, focusing on the four largest second level domains: .co.uk, .org.uk, .gov.uk, and .ac.uk. We explore the growth of these domains, and examine the link density within and between them. Next we look in more detail at the academic second- level domain, .ac.uk, to understand the relationship between link density among UK academic institutions and measures of affiliation, status, performance and geographic distance. Overall, these results are used both to understand the growth and structure of the .uk domain, but also to demonstrate the benefits and challenges of this type of analysis more generally.

Maintaining biodiversity is crucial for ensuring human well-being. The authors participated in a workshop held in Palenque, Mexico, in August 2018, that brought together 30 mostly early-career scientists working in different disciplines (natural, social and economic sciences) with the aim of identifying research priorities for studying the contributions of biodiversity to people and how these contributions might be impacted by environmental change. Five main groups of questions emerged: (1) Enhancing the quantity, quality, and availability of biodiversity data; (2) Integrating different knowledge systems; (3) Improved methods for integrating diverse data; (4) Fundamental questions in ecology and evolution; and (5) Multi-level governance across boundaries. We discussthe need for increased capacity building and investment in research programmes to address these challenges Fil: Pearson, Richard. University College London; Estados Unidos Fil: Martínez-Meyer, Enrique. Universidad Nacional Autónoma de México; México. Centro del Cambio Global y la Sustentabilidad Ac; México Fil: Andrade Velázquez, Mercedes. Centro del Cambio Global y la Sustentabilidad Ac; México Fil: Carón, María Mercedes. Procesos y Sistemas de Información En Geomática; Reino Unido. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; Argentina Fil: Corona-Núñez, Rogelio. University Of Exeter Business School; Reino Unido Fil: Davis, Katrina. Instituto de Ecología y Biodiversidad; Chile Fil: Paz Durán, América. Centro del Cambio Global y la Sustentabilidad Ac; México Fil: García-Morales, Rodrigo. University of Oxford; Reino Unido Fil: Hackett, Talya D.. University College London; Estados Unidos Fil: Ingram, Daniel J.. Centro del Cambio Global y la Sustentabilidad Ac; México Fil: Loyola Díaz, Rafael. Centro del Cambio Global y la Sustentabilidad AC; México Fil: Lescano, Julián Norberto. Consejo Nacional de Ciencia y Tecnología. Instituto de Ecología; México. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Diversidad y Ecología Animal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto de Diversidad y Ecología Animal; Argentina Fil: Lira-Noriega, Andrés. Ludwig Maximilian University Of Munich; Alemania Fil: López-Maldonado, Yolanda. Universidad Academia de Humanismo Cristiano; Chile Fil: Manuschevich, Daniela. International Institute For Applied Systems Analysis; Austria Fil: Mendoza, Alma. University College London; Estados Unidos Fil: Milligan, Ben. University Of Sheffield; Reino Unido Fil: Mills, Simon C.. Universidad de Concepción; Chile Fil: Moreira-Arce, Darío. Centro del Cambio Global y la Sustentabilidad Ac; México Fil: Nava, Luzma F.. University of Helsinki; Finlandia. University College London; Estados Unidos Fil: Oostra, Vicencio. University Of Exeter Business School; Reino Unido Fil: Owen, Nathan. Universidad Autónoma del Estado de México; México Fil: Prieto Torres, David Alexander. Universidad Nacional Autonoma de Mexico. Instituto de Biologia. Departamento de Zoología.; México Fil: Rodríguez Soto, Clarita. Universidad Autónoma del Estado de México; México Fil: Smith, Thomas. University of Leeds; Reino Unido Fil: Suggitt, Andrew J.. University of York; Reino Unido Fil: Tejo Haristoy, Camila. Universidad Austral de Chile; Chile. Universidad de Chile; Chile Fil: Velásquez-Tibatá, Jorge. The Nature Conservancy; Colombia Fil: Díaz, Sandra Myrna. Universidad Nacional de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; Argentina Fil: Marquet Iturriaga, Pablo Angel. Pontificia Universidad Católica de Chile; Chile

The web encourages the constant creation and distribution of large amounts of information; it is also a valuable resource for understanding human behavior and communication. To take full advantage of the web as a research resource that extends beyond the consideration of snapshots of the present, however, it is necessary to begin to take web archiving much more seriously as an important element of any research program involving web resources. The ephemeral character of the web requires that researchers take proactive steps in the present to enable future analysis. Efforts to archive the web or portions thereof have been developed around the world, but these efforts have not yet provided reliable and scalable solutions. This article summarizes the current state of web archiving in relation to researchers and research needs. Interviews with researchers, archivists, and technologists identify the differences in purpose, scope, and scale of current web archiving practice, and the professional tensions that arise given these differences. Findings outline the challenges that still face researchers who wish to engage seriously with web content as an object of research, and archivists who must strike a balance reflecting a range of user needs.

Contains fulltext : 167700.pdf (Publisher’s version ) (Open Access) Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very similar and unique clinical presentation of childhood-onset chorea and characteristic brain MRI showing symmetrical bilateral striatal lesions. All individuals were identified to carry a de novo heterozygous mutation in PDE10A (c.898T>C [p.Phe300Leu] in two individuals and c.1000T>C [p.Phe334Leu] in one individual), encoding a phosphodiesterase highly and selectively present in MSNs. PDE10A contributes to the regulation of the intracellular levels of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Both substitutions affect highly conserved amino acids located in the regulatory GAF-B domain, which, by binding to cAMP, stimulates the activity of the PDE10A catalytic domain. In silico modeling showed that the altered residues are located deep in the binding pocket, where they are likely to alter cAMP binding properties. In vitro functional studies showed that neither substitution affects the basal PDE10A activity, but they severely disrupt the stimulatory effect mediated by cAMP binding to the GAF-B domain. The identification of PDE10A mutations as a cause of chorea further motivates the study of cAMP signaling in MSNs and highlights the crucial role of striatal cAMP signaling in the regulation of basal ganglia circuitry. Pharmacological modulation of this pathway could offer promising etiologically targeted treatments for chorea and other hyperkinetic movement disorders.

We report the first results of the MURALES survey, a complete program of MUSE observations of nearby (z

While talk of “Big Data” is now prevalent in many sectors, there are still relatively few examples of Big Data being used to shape public policy. This article reports an international study of Big Data for policy initiatives to understand the role played by data‐driven approaches in the policy process. Drawing on evidence (including policy analysis and interviews with stakeholders) from 58 initiatives, we find that some policy areas, notably efforts to improve government transparency, are far more represented than others, such as use of social media data for policy evaluation. We also find Big Data used more often in the policy cycle for foresight and agenda setting, or interim evaluation and monitoring, rather than for policy implementation and ex post evaluation. Many different types of data are used in the policy process, with traditional sources such as government statistics still favored over new and emerging sources. We find that use of Big Data for public policy is therefore at an early stage, with expectations far outstripping the current reality.

This essay examines how researchers gain access to knowledge at a time when scholarly communication and materials are increasingly moving online. This topic has so far mainly been discussed in terms of journal publication and readership. Here we take a broader view, including a variety of areas where knowledge production and dissemination is broader than journal publications and includes data and tools. A second reason to take a broader view extends the horizon still further, since scientific communication and collaboration are not just undergoing change within the research community, but also depend on wider changes such as the use of search engines and how they affect what can be found online generally. New search behaviours are particularly evident among a new generation of scholars and potential scholars. Hence we will look at changes in research as well as in the realm of online knowledge more broadly.

To examine for the first time the associations between pro-inflammatory cytokines and obesity-related metabolic biomarkers in, exclusively prepubertal, otherwise healthy obese and non-obese Black and White children, 7-9 years of age.Body mass index (BMI), homeostasis model assessment-estimated insulin resistance, visceral adipose tissue and subcutaneous adipose tissue (SAT (magnetic resonance imaging)); total body fat (dual-energy X-ray absorptiometry), ectopic, intrahepatic lipid (IHL) and intramyocellular lipid (IMCL) fat (proton magnetic resonance spectroscopy) and serum levels of interleukin (IL)-1, IL-6, IL-8, tumor necrosis factor alpha (TNF-α) and monocyte chemoattractant protein-1 were measured in 40 obese and non-obese children. Relationships between inflammatory cytokines and obesity were assessed by analysis of variance and Spearman's rank correlation.Significant inverse correlations were found between BMI z-score, SAT, total BF, and IHL and levels of TNF-α (Spearman's ρ=-0.36, -0.39, -0.43 and -0.39, respectively; P0.05). Levels of IL-8 were significantly and inversely correlated with IMCL (-0.39; P=0.03) and remained significant after adjusting for race. IMCL was inversely associated with TNF-α only after adjusting for race (-0.37; P=0.04).Relationships between pro-inflammatory and metabolic markers commonly observed in adults are reversed in healthy, Black and White children before puberty. Prospective studies are warranted to determine how these inverse relationships modify chronic disease risk later in life.

The primary aims of the project were to measure the impact of five JISC funded digitisation projects, and to assemble a Toolkit for the Impact of Digital Scholarly Resources, which provides open access to a set of approaches and tools available to measure and potentially improve the usage and impact of current and future digitisation projects. The project assessed the usage and impact of five specific JISC funded digitisation projects, using a variety of research methods in order to reach a more comprehensive understanding of the uses and impacts of these resources. Quantitative measures included webometrics, log file analysis, scientometric (or bibliometric) analysis, and content analysis. These were complemented by an array of qualitative measures (stakeholder interviews, resource surveys, user feedback, focus groups, and questionnaires) that captured information about the whole cycle of usage and impact. The qualitative measures allowed us to examine the impact of the projects from the point of view of various stakeholders, starting with the host institutions (including libraries and archives), the personnel at the host institutions responsible for implementation (including the developers and engineers of the systems and curators and archivists of the collections), and stretching all the way to the various types of end users and the uses they represent.

This report analyses the social, ethical, and legal issues of Presence technologies and their implications for society. Most generally, Presence is an emerging and interdisciplinary field of research and refers to the cognitive experience of being somewhere.1 Presence thus aims at achieving realistic feelings and experiences of an environment that does not actually exist, using a broad range of technologies. While virtual and augmented realities, CAVEs, head-mounted displays, and high-end cinemas are among the more well-known examples, recent developments have brought about novel and potentially more intrusive technologies like brain-computer interfaces (BCI), which can translate brainwaves into control signals and vice versa. Over the past decade, research in this area has made considerable progress: in one case researchers have successfully enabled a tetraplegic to steer a virtual wheelchair through a virtual environment just with their thoughts. While Presence technologies are only slowly entering mass markets and applications in fields like medicine, military, entertainment or gaming, they are likely to play an increasingly important role in society. Powered by recent advances in disciplines like neuroscience, cognitive science, computer science and psychology, Presence technologies are therefore bound to change the world as we experience it.

In this paper, the notion that Internet-based resources can be viewed using the common-pool resource dilemma framework is questioned. Instead, the author proposes that some, if not most, internet-based resources seek to broaden participation as much as possible. The paper examines arXiv.org, a working paper repository for the physics community and related disciplines, to determine whether participation in an elite scientific community has been democratized by the presence of a freely accessible common resource. The data indicates that participation has not been democratized. In the discussion, the author examines some possible explanations for this.

In this chapter, the author examines a single computerization movement: digital photography. During the period 1991–2004, the technology in digital cameras was being refined by manufacturers and the advantages and limitations of digital cameras were discussed widely in the popular and trade-oriented media. The author explores this period of technological change using the concept of computerization movements, particularly drawing on how computerization movements use technological action frames, which reflect composite understandings of a technology’s function and use that are built up in the language about a technology. Content analysis data of major media sources shows a storyline developing alongside technology developments: The earliest digital cameras were widely hyped as potentially revolutionary but seriously limited in capability, and during the late 1990s concern was expressed regarding a perceived lack of sufficient technological progress toward acceptable quality technology. Once the technological limitations were overcome, widespread adoption was viewed as inevitable, even while concerns about such issues as digital manipulation remained. This simple story, however, does not reflect the more complex tensions experienced in many domains that rely heavily on photography. To explore this more complex story, the chapter also includes a more detailed look at a specialized domain, police and legal photography, where the adoption of 173 digital photography followed a rockier course than the popular media accounts would suggest.

One and a half decades after the publication of Kling’s 1999 article explaining “What is social informatics and why does it matter?”, we find ourselves further along the road in terms of understandings of socio-technical configurations, and we must admit as part of any stock-taking that social informatics as an academic pursuit has not achieved the scholarly traction we might have hoped for. While the original article has a fairly healthy number of citations (441 to the 1999 version in D-Lib Magazine and another 35 to the version reprinted in the The Information Society in 2007, according to Google Scholar), one would be hard-pressed to point to a canon of social informatics publications that have coalesced into anything resembling a field or discipline or, in fact, anything more than a loosely-knit professional community of like-minded scholars. While Google Scholar reports “about 14,000 results” for the phrase “social informatics”, the more narrowly focused Scopus and Web of Science databases indicate much more modest results in the published journal literature (167 articles and 188 articles respectively that include the term “social informatics” in the title, abstract, or keywords as of the beginning of 2013). One of the reasons for the large discrepancy between Google Scholar and the journal databases and that social informatics is much more visible in the gray non-journal literature (such as conference papers, presentations, course materials, and so forth) than in the published academic literature, I will argue, is that the function social informatics performs for many researchers and students can be thought of as similar to backstage or invisible work that sensitizes researchers to important concepts, but then often recedes into the shadows.

Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal‐dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. Methods In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing. The other 2 unrelated patients participated in studies for undiagnosed pediatric hyperkinetic movement disorders and underwent whole‐exome sequencing. Results Five patients had the previously reported p.R418W ADCY5 mutation; we also identified two novel mutations at p.R418G and p.R418Q. All patients presented with motor milestone delay, infantile‐onset action‐induced generalized choreoathetosis, dystonia, or myoclonus, with episodic exacerbations during drowsiness being a characteristic feature. Axial hypotonia, impaired upward saccades, and intellectual disability were variable features. The p.R418G and p.R418Q mutation patients had a milder phenotype. Six of seven patients had mild functional gain with clonazepam or clobazam. One patient had bilateral globus pallidal DBS at the age of 33 with marked reduction in dyskinesia, which resulted in mild functional improvement. Conclusion We further delineate the clinical features of ADCY5 gene mutations and illustrate its wide phenotypic expression. We describe mild improvement after treatment with clonazepam, clobazam, and bilateral pallidal DBS. ADCY5‐associated dyskinesia may be under‐recognized, and its diagnosis has important prognostic, genetic, and therapeutic implications. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society

Objective: The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. Methods: We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. We administered a telephone-based questionnaire regarding the functional impact of the movement disorders and perceived efficacy of treatment to the caregivers of one cohort of participants. Results: We identified 28 patients with FOXG1 mutations, of whom 6 had previously unreported mutations. A wide variety of movement disorders were identified, with dystonia, choreoathetosis, and orolingual/facial dyskinesias most commonly present. Ninety-three percent of patients had a mixed movement disorder phenotype. In contrast to the phenotype classically described with FOXG1 mutations, 4 patients with missense mutations had a milder phenotype, with independent ambulation, spoken language, and normocephaly. Hyperkinetic involuntary movements were a major clinical feature in these patients. Of the symptomatic treatments targeted to control abnormal involuntary movements, most did not emerge as clearly beneficial, although 4 patients had a caregiver-reported response to levodopa. Conclusions: Abnormal involuntary movements are a major feature of FOXG1 mutations. Our study delineates the spectrum of movement disorders and confirms an expanding clinical phenotype. Symptomatic treatment may be considered for severe or disabling cases, although further research regarding potential treatment strategies is necessary.

The critical fluctuations at second order structural transitions in a bulk crystal may affect the dissipation of mechanical probes even if completely external to the crystal surface. Here we show that noncontact force microscope dissipation bears clear evidence of the antiferrodistortive phase transition of SrTiO3, known for a long time to exhibit a unique, extremely narrow neutron scattering "central peak". The noncontact geometry suggests a central peak linear response coupling connected with strain. The detailed temperature dependence reveals for the first time the intrinsic central peak width of order 80 kHz, two orders of magnitude below the established neutron upper bound., Comment: 5 pages, 3 figures

The genetic modification of T cells offers many promising cellular therapies, but little known about how the transient targeting of T cell or T cell subsets such as CD4+CD25+FoxP3+ regulatory cells (Treg) could be used to control alloreactivity. We used the expression of a chimeric antigen receptor that recognizes labeled therapeutic monoclonal antibodies, to control T cell activation in vivo. By specifying the location of activation of donor T cells during hematopoietic cell, we modulated graft-versus-host disease and anti-leukemia effects. We also controlled the activation of Treg cells which remain immunoregulatory. When recipient Treg are targeted to activate in response to MHC Class I mismatch, we observed significantly prolonged allogeneic islet graft survival in an antigen-specific manner, as secondary skin grafts were specifically protected against rejection. The transient genetic modification of T and Treg can have lasting effects on the immune system and could be used therapeutically to regulate alloreactivity.

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This paper is the product of a workshop that brought together practitioners, researchers, and data experts to discuss how big data is becoming a resource for positive social change in low‐ and middle‐income countries (LMICs). We include in our definition of big data sources such as social media data, mobile phone use records, digitally mediated transactions, online news media sources, and administrative records. We argue that there are four main areas where big data has potential for promoting positive social change: advocacy; analysis and prediction; facilitating information exchange; and promoting accountability and transparency. These areas all have particular challenges and possibilities, but there are also issues shared across them, such as open data and privacy concerns. Big data is shaping up to be one of the key battlefields of our time, and the paper argues that this is therefore an opportune moment for civil society groups in particular to become a larger part of the conversation about the use of big data, since questions about the asymmetries of power involved are especially urgent in these uses in LMICs. Civil society groups are also currently underrepresented in debates about privacy and the rights of technology users, which are dominated by corporations, governments and nongovernmental organizations in the Global North. We conclude by offering some lessons drawn from a number of case studies that represent the current state‐of‐the‐art.

One and a half decades after the publication of Kling’s 1999 article explaining “What is social informatics and why does it matter?”, we find ourselves further along the road in terms of understandings of socio-technical configurations, and we must admit as part of any stock-taking that social informatics as an academic pursuit has not achieved the scholarly traction we might have hoped for. While the original article has a fairly healthy number of citations (441 to the 1999 version in D-Lib Magazine and another 35 to the version reprinted in the The Information Society in 2007, according to Google Scholar), one would be hard-pressed to point to a canon of social informatics publications that have coalesced into anything resembling a field or discipline or, in fact, anything more than a loosely-knit professional community of like-minded scholars. While Google Scholar reports “about 14,000 results” for the phrase “social informatics”, the more narrowly focused Scopus and Web of Science databases indicate much more modest results in the published journal literature (167 articles and 188 articles respectively that include the term “social informatics” in the title, abstract, or keywords as of the beginning of 2013). One of the reasons for the large discrepancy between Google Scholar and the journal databases and that social informatics is much more visible in the gray non-journal literature (such as conference papers, presentations, course materials, and so forth) than in the published academic literature, I will argue, is that the function social informatics performs for many researchers and students can be thought of as similar to backstage or invisible work that sensitizes researchers to important concepts, but then often recedes into the shadows.

In order to extend the investigation of laser-assisted cleaning of ITER-relevant first mirror materials to the picosecond regime, a commercial laser system delivering 10 picosecond pulses at 355 nm at a frequency of up to 1 MHz has been used to investigate the ablation of mixed aluminium (oxide) / tungsten (oxide) layers deposited on poly- and nanocrystalline molybdenum as well as nanocrystalline rhodium mirrors. Characterization before and after cleaning using scanning electron microscopy (SEM) and spectrophotometry shows heavy dust formation, resulting in a degradation of the reflectivity. Cleaning using a 5 nanosecond pulses at 350 and 532 nm, on the other hand, proved very promising. The structure of the film remnants suggests that in this case buckling was the underlying removal mechanism rather than ablation. Repeated coating and cleaning using nanosecond pulses is demonstrated., Comment: Accepted in Fusion Science and Technology. Fusion Science and Technology 2014

Contains fulltext : 128109.pdf (Publisher’s version ) (Open Access)

Formation of 4-carboxy-5-aminoimidazole ribonucleotide (CAIR) in the purine pathway in most prokaryotes requires ATP, HCO3-, aminoimidazole ribonucleotide (AIR), and the gene products PurK and PurE. PurK catalyzes the conversion of AIR to N5-carboxyaminoimidazole ribonucleotide (N5-CAIR) in a reaction that requires both ATP and HCO3-. PurE catalyzes the unusual rearrangement of N5-CAIR to CAIR. To investigate the mechanism of this rearrangement, [4,7-13C]-N5-CAIR and [7-14C]-N5-CAIR were synthesized and separately incubated with PurE in the presence of ATP, aspartate, and 4-(N-succinocarboxamide)-5-aminoimidazole ribonucleotide (SAICAR) synthetase (PurC). The SAICAR produced was isolated and analyzed by NMR spectroscopy or scintillation counting, respectively. The PurC trapping of CAIR as SAICAR was required because of the reversibility of the PurE reaction. Results from both experiments reveal that the carboxylate group of the carbamate of N5-CAIR is transferred directly to generate CAIR without equilibration with CO2/HCO3- in solution. The mechanistic implications of these results relative to the PurE-only (CO2- and AIR-requiring) AIR carboxylases are discussed.