Variable phenotype in 16p duplication within a family

Background More individuals are now being identified with very rare genetic syndromes. We present a family with an inherited duplication of 16p11.2 to 16q12.1 in ring formation. Three of the four children, (aged 15 months to 10 years), mother, uncle, and grandmother are affected. Our aim was to provide preliminary evidence of possible phenotypic patterns of learning and behaviour associated with this chromosome anomaly. Method Psychometric assessments were undertaken with all four children. The mother and uncle also agreed to participate in the study. Measures of development (Bayley or Mullen), intellectual ability (WISC-IV or WAIS-III), academic achievement (WIAT-II), adaptive behaviour (Vinelands), and other relevant aspects of functioning (e.g., Children’s Memory Scale) were administered. Results. The first-born child is the only one who is unaffected. Her intellectual ability was assessed as being within the superior range. The second child experienced early difficulties with speech and motor skills. Although his intelligence is average, he has learning difficulties and significant auditory memory problems. The third child’s speech and motor milestones were markedly delayed. He has a complex medical history that includes a vitamin B12 deficiency. On the Mullen Scales at age 4 his scores ranged from average to very low. The development of the youngest child (aged 15 months), who also had a B12 deficiency but was treated early, was assessed as being within typical limits. Conclusions There is considerable developmental variability among the three children with this inherited 16p duplication. We discuss the intriguing similarities and differences, considering common features that may reflect phenotypic patterns and speculating about possible explanations for the variable presentations.

Effective communication during disasters: What effects community decision making & action?

Study/Objective This paper describes a program of research examining emergency messaging during the response and early recovery phases of natural disasters. The objective of this suite of studies is to develop message construction frameworks and channels that maximise community compliance with instructional messaging. The research has adopted a multi-hazard approach and considers the impact of formal emergency messages, as well as informal messages (e.g., social media posts), on community compliance. Background In recent years, media reports have consistently demonstrated highly variable community compliance to instructional messaging during natural disasters. Footage of individuals watching a tsunami approaching from the beach or being over-run by floodwaters are disturbing and indicate the need for a clearer understanding of decision making under stress. This project’s multi-hazard approach considers the time lag between knowledge of the event and desired action, as well as how factors such as message fatigue, message ambiguity, and the interplay of messaging from multiple media sources are likely to play a role in an individual’s compliance with an emergency instruction. Methods To examine effective messaging strategy, we conduct a critical analysis of the literature to develop a framework for community consultation and design experiments to test the potential for compliance improvement. Results Preliminary results indicate that there is, as yet, little published evidence on which to base decisions about emergency instructional messages to threatened communities. Conclusion The research described here will contribute improvements in emergency instructional message compliance by generating an evidence-based framework that takes into account behavioural compliance theory, the psychology of decision making under stress, and multiple channels of communication including social media.

A commentary on the global position of South African accounting research

The South African designation of Chartered Accountant is comparable to similar designations in most developed countries. However, the research outputs of Accountancy academics in South Africa seem to lag far behind those of their counterparts abroad. This article discusses the results of several inquiries into the status of South African Accounting research in a global context, and identifies several reasons and possible remedies for low research output.

A humanistic approach to South African accounting education

Humanistic psychologist Carl Rogers made a distinction between traditional approaches and humanistic `learner-centred\' approaches to education. The traditional approach holds that educators impart their knowledge to willing and able recipients; whereas the humanistic approach holds that educators act as facilitators who assist learners in their learning processes. As a learning theory, humanism refers to the belief in the innate ability of humans to learn, and the creation of an environment in which students are given `Freedom to Learn\'. South African accounting education has, by and large, followed the traditional approach rather than the humanistic approach. This article attempts to expand on the existing references to a humanistic approach through a more detailed exposition and application of the educational theory of Carl Rogers in the context of South African accounting education. The prospects of a humanistic approach in accounting education are then discussed and some practical strategies provided in relation to a specific third-year undergraduate accounting unit offered in South Africa.

The Black Label: trade mark dilution, culture jamming, and the no logo movement

This article considers the ongoing debate over the appropriation of well-known and famous trade marks by the No Logo Movement for the purposes of political and social critique. It focuses upon one sensational piece of litigation in South Africa, Laugh It Off Promotions v. South African Breweries International (Finance) B.V. t/a Sabmark International. In this case, a group called Laugh It Off Promotions subjected the trade marks of the manufacturers of Carling Beer were subjected to parody, social satire, and culture jamming. The beer slogan “Black Label” was turned into a T-Shirt entitled “Black Labour/ White Guilt”. In the ensuing litigation, the High Court of South Africa and the Supreme Court of Appeal were of the opinion that the appropriation of the mark was a case of hate speech. However, the Constitutional Court of South Africa disagreed, finding that the parodies of a well-known, famous trade mark did not constitute trade mark dilution. Moseneke J observed that there was a lack of evidence of economic or material harm; and Sachs J held that there is a need to provide latitude for parody, laughter, and freedom of expression. The decision of the Constitutional Court of South Africa provides some important insights into the nature of trade mark dilution, the role of parody and satire, and the relevance of constitutional protections of freedom of speech and freedom of expression. Arguably, the ruling will be of help in the reformation of trade mark dilution law in other jurisdictions – such as the United States. The decision in Laugh It Off Promotions v. South African Breweries International demonstrates that trade mark law should not be immune from careful constitutional scrutiny.

Modelling of Electric Fields

South Africa has an electrical transmission grid of over 25 000 km of overhead power lines with voltages of 132 kV to 765 kV. The grid has been largely designed and built by the power utility, Eskom. This book embodies the planning philosophies, design principles and construction practices of Eskom. It is the culmination of decades of thought, study, research and the practical experience of many overhead power line engineers and researchers. The book covers the main aspects of overhead power line design and construction, from electrical first principles, system planning, insulation co-ordination (including live line working), mechanical design through to environmental impact management and power line communications. The content emphasises the need for close interaction between all technical disciplines involved and the importance of optimising designs for economy and performance. Additional challenges in South Africa are the relatively high altitude of the interior plateau (1 000 m to 1 700 m above sea level), severe lightning in some areas and long transmission distances. The book explains how these factors are accommodated in modern designs. Other advanced work covered includes the use and understanding of polymeric insulators, the judicious reduction of phase-to-phase spacings and the adoption of guyed structures.

Australian paramedic graduates transitioning into UK NHS ambulance services: what are the potential challenges?

With United Kingdom (UK) Ambulance National Health Service (NHS) Trusts and Foundation Trusts actively recruiting Australian paramedic graduates, this article seeks to stimulate discussion by identifying differences existing between the two ambulance systems, as well as highlighting potential challenges that Australian graduates may face when transitioning to the UK ambulance service. It also identifies similarities between Australian and UK ambulance systems, which may assist new graduates to overcome the transition shock. This article suggests that transition shock is not solely related to Australian graduates moving to the UK, and may well be present for graduates moving to comparable international ambulance services in Canada, the Middle East, Ireland and South Africa.

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013

Background The Global Burden of Disease, Injuries, and Risk Factor study 2013 (GBD 2013) is the first of a series of annual updates of the GBD. Risk factor quantification, particularly of modifiable risk factors, can help to identify emerging threats to population health and opportunities for prevention. The GBD 2013 provides a timely opportunity to update the comparative risk assessment with new data for exposure, relative risks, and evidence on the appropriate counterfactual risk distribution. Methods Attributable deaths, years of life lost, years lived with disability, and disability-adjusted life-years (DALYs) have been estimated for 79 risks or clusters of risks using the GBD 2010 methods. Risk–outcome pairs meeting explicit evidence criteria were assessed for 188 countries for the period 1990–2013 by age and sex using three inputs: risk exposure, relative risks, and the theoretical minimum risk exposure level (TMREL). Risks are organised into a hierarchy with blocks of behavioural, environmental and occupational, and metabolic risks at the first level of the hierarchy. The next level in the hierarchy includes nine clusters of related risks and two individual risks, with more detail provided at levels 3 and 4 of the hierarchy. Compared with GBD 2010, six new risk factors have been added: handwashing practices, occupational exposure to trichloroethylene, childhood wasting, childhood stunting, unsafe sex, and low glomerular filtration rate. For most risks, data for exposure were synthesised with a Bayesian meta-regression method, DisMod-MR 2.0, or spatial-temporal Gaussian process regression. Relative risks were based on meta-regressions of published cohort and intervention studies. Attributable burden for clusters of risks and all risks combined took into account evidence on the mediation of some risks such as high body-mass index (BMI) through other risks such as high systolic blood pressure and high cholesterol. Findings All risks combined account for 57·2% (95% uncertainty interval [UI] 55·8–58·5) of deaths and 41·6% (40·1–43·0) of DALYs. Risks quantified account for 87·9% (86·5–89·3) of cardiovascular disease DALYs, ranging to a low of 0% for neonatal disorders and neglected tropical diseases and malaria. In terms of global DALYs in 2013, six risks or clusters of risks each caused more than 5% of DALYs: dietary risks accounting for 11·3 million deaths and 241·4 million DALYs, high systolic blood pressure for 10·4 million deaths and 208·1 million DALYs, child and maternal malnutrition for 1·7 million deaths and 176·9 million DALYs, tobacco smoke for 6·1 million deaths and 143·5 million DALYs, air pollution for 5·5 million deaths and 141·5 million DALYs, and high BMI for 4·4 million deaths and 134·0 million DALYs. Risk factor patterns vary across regions and countries and with time. In sub-Saharan Africa, the leading risk factors are child and maternal malnutrition, unsafe sex, and unsafe water, sanitation, and handwashing. In women, in nearly all countries in the Americas, north Africa, and the Middle East, and in many other high-income countries, high BMI is the leading risk factor, with high systolic blood pressure as the leading risk in most of Central and Eastern Europe and south and east Asia. For men, high systolic blood pressure or tobacco use are the leading risks in nearly all high-income countries, in north Africa and the Middle East, Europe, and Asia. For men and women, unsafe sex is the leading risk in a corridor from Kenya to South Africa. Interpretation Behavioural, environmental and occupational, and metabolic risks can explain half of global mortality and more than one-third of global DALYs providing many opportunities for prevention. Of the larger risks, the attributable burden of high BMI has increased in the past 23 years. In view of the prominence of behavioural risk factors, behavioural and social science research on interventions for these risks should be strengthened. Many prevention and primary care policy options are available now to act on key risks.

Differences between Black and White South Africans in product failure attributions, anger and complaint behaviour

The purpose of this research is to extend an understanding of how Black and White South African consumers' causal attributions for major household appliance performance failures impact on their anger and subsequent complaint behaviour. A survey was administered to Black and White South African consumers who were dissatisfied with the performance of a major household appliance item. Respondents resided in a major metropolitan area. The findings showed that, compared to Whites, the Black South Africans felt a low but significantly higher external locus of causality and lower control, and experienced a higher level of anger regarding product failure. The level of anger determined the decision to take complaint action, but racial group determined the type of action taken. Blacks complained more actively to retailers and engaged more in private complaint action than Whites. These findings may show that Black South Africans are developing a more individualistic orientation as consumers. Therefore, researchers should consider the effect of cultural swapping when researching consumer behaviour in multi-cultural countries. Implications for retailers in terms of complaint handling are indicated.

Indigenous Intellectual Property: A Handbook of Contemporary Research

Taking an interdisciplinary approach unmatched by any other book on this topic, this thoughtful Handbook considers the international struggle to provide for proper and just protection of Indigenous intellectual property (IP). In light of the United Nations Declaration on the Rights of Indigenous Peoples 2007, expert contributors assess the legal and policy controversies over Indigenous knowledge in the fields of international law, copyright law, trademark law, patent law, trade secrets law, and cultural heritage. The overarching discussion examines national developments in Indigenous IP in the United States, Canada, South Africa, the European Union, Australia, New Zealand, and Indonesia. The Handbook provides a comprehensive overview of the historical origins of conflict over Indigenous knowledge, and examines new challenges to Indigenous IP from emerging developments in information technology, biotechnology, and climate change. Practitioners and scholars in the field of IP will learn a great deal from this Handbook about the issues and challenges that surround just protection of a variety of forms of IP for Indigenous communities. Preface The Legacy of David Unaipon Matthew Rimmer Introduction: Mapping Indigenous Intellectual Property Matthew Rimmer PART I INTERNATIONAL LAW 1. The United Nations Declaration on the Rights of Indigenous Peoples: A Human Rights Framework for Indigenous Intellectual Property Mauro Barelli 2. The WTO, The TRIPS Agreement and Traditional Knowledge Tania Voon 3. The World Intellectual Property Organization and Traditional Knowledge Sara Bannerman 4. The World Indigenous Network: Rio+20, Intellectual Property, Indigenous Knowledge, and Sustainable Development Matthew Rimmer PART II COPYRIGHT LAW AND RELATED RIGHTS 5. Government Man, Government Painting? David Malangi and the 1966 One-Dollar Note Stephen Gray 6. What Wandjuk Wanted Martin Hardie 7. Avatar Dreaming: Indigenous Cultural Protocols and Making Films Using Indigenous Content Terri Janke 8. The Australian Resale Royalty for Visual Artists: Indigenous Art and Social Justice Robert Dearn and Matthew Rimmer PART III TRADE MARK LAW AND RELATED RIGHTS 9. Indigenous Cultural Expression and Registered Designs Maree Sainsbury 10. The Indian Arts and Crafts Act: The Limits of Trademark Analogies Rebecca Tushnet 11. Protection of Traditional Cultural Expressions within the New Zealand Intellectual Property Framework: A Case Study of the Ka Mate Haka Sarah Rosanowski 12 Geographical Indications and Indigenous Intellectual Property William van Caenegem PART IV PATENT LAW AND RELATED RIGHTS 13. Pressuring ‘Suspect Orthodoxy’: Traditional Knowledge and the Patent System Chidi Oguamanam, 14. The Nagoya Protocol: Unfinished Business Remains Unfinished Achmad Gusman Siswandi 15. Legislating on Biopiracy in Europe: Too Little, too Late? Angela Daly 16. Intellectual Property, Indigenous Knowledge, and Climate Change Matthew Rimmer PART V PRIVACY LAW AND IDENTITY RIGHTS 17. Confidential Information and Anthropology: Indigenous Knowledge and the Digital Economy Sarah Holcombe 18. Indigenous Cultural Heritage in Australia: The Control of Living Heritages Judith Bannister 19. Dignity, Trust and Identity: Private Spheres and Indigenous Intellectual Property Bruce Baer Arnold 20. Racial Discrimination Laws as a Means of Protecting Collective Reputation and Identity David Rolph PART VI INDIGENOUS INTELLECTUAL PROPERTY: REGIONAL PERSPECTIVES 21. Diluted Control: A Critical Analysis of the WAI262 Report on Maori Traditional Knowledge and Culture Fleur Adcock 22. Traditional Knowledge Governance Challenges in Canada Jeremy de Beer and Daniel Dylan 23. Intellectual Property protection of Traditional Knowledge and Access to Knowledge in South Africa Caroline Ncube 24. Traditional Knowledge Sovereignty: The Fundamental Role of Customary Law in Protection of Traditional Knowledge Brendan Tobin Index

Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners

Utilizing DNA samples from 91 Afrikaner nuclear families with one or more affected children, five genomic regions on chromosomes 2p, 8q, 11q, 20q, and 21q that gave evidence for association with GTS in previous case-control association studies were investigated for linkage and association with GTS. Highly polymorphic markers with mean heterozygosity of 0.77 were typed and resulting genotypes evaluated using single marker transmission disequilibrium (TDT), single marker haplotype relative risk (HRR), and multi-marker "extended" TDT and HRR methods. Single marker TDT analysis showed evidence for linkage or association, with p-values near 0.05, for markers D2S139, GATA28F12, and D11S1377 on chromosomes 2p11, 8q22 and 11q23-24, respectively. Extended, two-locus TDT and HRR analysis provided further evidence for linkage or association on chromosome 2 with p-values of 0.007 and 0.025, and chromosome 8 with p-values of 0.059 and 0.013, respectively. These results provide important additional evidence for the location of GTS susceptibility loci.

Social NUI: Social perspectives in natural user interfaces

Natural User Interfaces (NUI) offer rich ways for interacting with the digital world that make innovative use of existing human capabilities. They include and often combine different input modalities such as voice, gesture, eye gaze, body interactions, touch and touchless interactions. However much of the focus of NUI research and development has been on enhancing the experience of individuals interacting with technology. Effective NUIs must also acknowledge our innately social characteristics, and support how we communicate with each other, play together, learn together and collaboratively work together. This workshop concerns the social aspects of NUI. The workshop seeks to better understand the social uses and applications of these new NUI technologies -- how we design these technologies for new social practices and how we understand the use of these technologies in key social contexts.

Proceedings of the 2nd Workshop on (Re)Creating Lively Cities Through Ambient Technology in Arts, Culture and Gastronomic Experiences

Digital and interactive technologies are becoming increasingly embedded in everyday lives of people around the world. Application of technologies such as real-time, context-aware, and interactive technologies; augmented and immersive realities; social media; and location-based services has been particularly evident in urban environments where technological and sociocultural infrastructures enable easier deployment and adoption as compared to non-urban areas. There has been growing consumer demand for new forms of experiences and services enabled through these emerging technologies. We call this ambient media, as the media is embedded in the natural human living environment. This workshop focuses on ambient media services, applications, and technologies that promote people’s engagement in creating and recreating liveliness in urban environments, particularly through arts, culture, and gastronomic experiences. The RelCi workshop series is organized in cooperation with the Queensland University of Technology (QUT), in particular the Urban Informatics Lab and the Tampere University of Technology (TUT), in particular the Entertainment and Media Management (EMMi) Lab. The workshop runs under the umbrella of the International Ambient Media Association (AMEA) (http://www.ambientmediaassociation.org), which is hosting the international open access journal entitled “International Journal on Information Systems and Management in Creative eMedia”, and the international open access series “International Series on Information Systems and Management in Creative eMedia” (see http://www.tut.fi/emmi/Journal). The RelCi workshop took place for the first time in 2012 in conjunction with ICME 2012 in Melbourne, Autralia; and this year’s edition took place in conjunction with INTERACT 2013 in Cape Town, South Africa. Besides, the International Ambient Media Association (AMEA) organizes the Semantic Ambient Media (SAME) workshop series, which took place in 2008 in conjunction with ACM Multimedia 2008 in Vancouver, Canada; in 2009 in conjunction with AmI 2009 in Salzburg, Austria; in 2010 in conjunction with AmI 2010 in Malaga, Spain; in 2011 in conjunction with Communities and Technologies 2011 in Brisbane, Australia; in 2012 in conjunction with Pervasive 2012 in Newcastle, UK; and in 2013 in conjunction with C&T 2013 in Munich, Germany.