Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene IFT172 in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of ift172 in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between ift172 and ift80. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.

The hard work of leisure: Healthy life, activewear and Lorna Jane

Since the 2000s activewear has grown as a fashion category, and the tropes of gym wear – leggings, leotards and block colours – have become fashionable attire for both men and women outside the gym. This article examines the rise of activewear in the context of an on-going dialogue between fashion and sport since the beginning of the twentieth century. Through an analysis of the Australian activewear label, Lorna Jane, we consider the fashionable female body as both the object and subject of a consumer culture that increasingly overlays leisure with fashion. Activewear can be seen as the embodiment of an active and fashionable lifestyle that is achieved through a regime of self-discipline, and that symbolizes the pleasure in attaining and displaying the healthy and fit body.

R&D in clean technology: A project choice model with learning

In this study, we investigate the qualitative and quantitative effects of an R&D subsidy for a clean technology and a Pigouvian tax on a dirty technology on environmental R&D when it is uncertain how long the research takes to complete. The model is formulated as an optimal stopping problem, in which the number of successes required to complete the R&D project is finite and learning about the probability of success is incorporated. We show that the optimal R&D subsidy with the consideration of learning is higher than that without it. We also find that an R&D subsidy performs better than a Pigouvian tax unless suppliers have sufficient incentives to continue cost-reduction efforts after the new technology success-fully replaces the old one. Moreover, by using a two-project model, we show that a uniform subsidy is better than a selective subsidy.

Developing the helping relationship: Engaging with clients in different contexts

"Human service workers need more than just common sense. This book offers a comprehensive introduction to practice skills required across the human service sector. The authors use critical analysis to systematically outline the key stages of interaction with clients."--Libraries Australia "A thorough introduction to the core practice skills needed by social work and welfare professionals. Human service workers need more than just common sense. Practice Skills in Social Work and Welfare offers a comprehensive introduction to practice skills required across the human service sector. The authors use critical analysis to systematically outline the key stages of interaction with clients: engagement, assessment, intervention and evaluation. Drawing on a strengths approach, they examine the skills needed for working with different types of clients: individuals, families and community groups. They also explore the dilemmas faced in daily practice, including the challenges of working with involuntary clients, clients from different cultural backgrounds, and clients in crisis situations. Practice Skills in Social Work and Welfare provides a model of integrated practice which incorporates the key components of ideology, theory, phase, skill and context. Detailed case studies demonstrate how welfare services can be delivered in different contexts. Written by experienced teachers and practitioners from Australia and New Zealand, Practice Skills in Social Work and Welfare is a practical and user friendly text for students and reference for practitioners"--Publisher website

Developing the helping relationship: Engaging with clients in different contexts

"Fully revised edition of this widely used introduction to the core practice skills needed by social work and other human service professionals. 'The main strength of the book is the consistency of its themes throughout the text.I would like to commend the editors of this book for the contribution it should make to practice teaching with social work and welfare' - Karen Heycox in Australian Social Work Human service workers need more than just common sense. Practice Skills in Social Work and Welfare offers a comprehensive introduction to practice skills required across the human service sector. The authors use critical analysis to systematically outline the key stages of interaction with clients: engagement, assessment, intervention and evaluation. Drawing on a strengths approach, they examine the skills needed for working with different types of clients: individuals, families and community groups. They also explore the dilemmas faced in daily practice, including the challenges of working with involuntary clients, clients from different cultural backgrounds, and clients in crisis situations. Practice Skills in Social Work and Welfare provides a model of integrated practice which incorporates the key components of ideology, theory, phase, skill and context. Detailed case studies demonstrate how welfare services can be delivered in different contexts. This second edition has been thoroughly revised and updated and includes new material on online services and strengths-based practice. Written by experienced teachers and practitioners from Australia and New Zealand, Practice Skills in Social Work and Welfare is a practical and user friendly text for students and reference for practitioners."--Publisher website