Parental Attitudes toward Genetic Testing for Pediatric Deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%–95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing

Compression-induced improvements in post-exercise recovery are associated with enhanced blood flow, and are not due to the placebo effect

The aim of this study was to investigate the physiological effects of compression tights on blood flow following exercise and to assess if the placebo effect is responsible for any acute performance or psychological benefits. Twenty-two resistance-trained participants completed a lower-body resistance exercise session followed by a 4 h recovery period. Participants were assigned a post-exercise recovery intervention of either compression tights applied for 4 h (COMP), placebo tablet consumed every hour for 4 h (PLA) or control (CON). Physiological (markers of venous return, muscle blood flow, blood metabolites, thigh girth), performance (countermovement jump, isometric mid-thigh pull), and psychological measures (perceived muscle soreness, total quality of recovery) were collected pre-exercise, immediately post-exercise, at 30 (markers of venous return and muscle blood flow) and 60 min (blood metabolites, thigh girth and psychological measures) intervals during 4 h of recovery, and at 4 h, 24 h and 48 h post-exercise. No significant (P > 0.05) differences were observed between interventions. However, effect size analysis revealed COMP enhanced markers of venous return, muscle blood flow, recovery of performance measures, psychological measures and reduced thigh girth compared to PLA and CON. There were no group differences in blood metabolites. These findings suggest compression tights worn after resistance exercise enhance blood flow and indices of exercise recovery, and that these benefits were not due to a placebo effect

Assessing the combined effect of surface topography and substrate rigidity in human bone marrow stem cell cultures

The combined effect of surface topography and substrate rigidity in stem cell cultures is still under-investigated, especially when biodegradable polymers are used. Herein, we assessed human bone marrow stem cell response on aliphatic polyester substrates as a function of anisotropic grooved topography and rigidity (7 and 12 kPa). Planar tissue culture plastic (TCP, 3 GPa) and aliphatic polyester substrates were used as controls. Cell morphology analysis revealed that grooved substrates caused nuclei orientation/alignment in the direction of the grooves. After 21 days in osteogenic and chondrogenic media, the 3 GPa TCP and the grooved 12 kPa substrate induced significantly higher calcium deposition and alkaline phosphatase (ALP) activity and glycosaminoglycan (GAG) deposition, respectively, than the other groups. After 14 days in tenogenic media, the 3 GPa TCP upregulated four and downregulated four genes; the planar 7 kPa substrate upregulated seven genes and downregulated one gene; and the grooved 12 kPa substrate upregulated seven genes and downregulated one gene. After 21 days in adipogenic media, the softest (7 kPa) substrates induced significantly higher oil droplet deposition than the other substrates and the grooved substrate induced significantly higher droplet deposition than the planar. Our data pave the way for more rational design of bioinspired constructs.This work has also received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie, grant agreement No. 676338, the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme, grant agreement No. 866126 and the European Union’s Horizon 2020 research and innova tion Widespread: Twinning programme, grant agreement No. 810850. This publication has emanated from research supported in part by grants from Science Foundation Ireland (SFI) under Grant numbers 15/CDA/3629 and 19/FFP/6982 and Science Foundation Ireland (SFI) and European Regional Development Fund (ERDF) under grant number 13/RC/2073_2. E.M.F. acknowledges to the project TERM RES Hub – Infraestrutura Científica para a Engenharia de Tecidos e Medicina Regenerativa, Ref Num ber NORTE-01-0145-FEDER-02219015. The authors would like to acknowledge the significant contribution of Dr Oonagh Dwane in the writing and management of all grants. Open access funding provided by IReL

Putting the squeeze on compression garments: current evidence and recommendations for future research: a systematic scoping review

Background: Compression garments are regularly worn during exercise to improve physical performance, mitigate fatigue responses, and enhance recovery. However, evidence for their efficacy is varied and the methodological approaches and outcome measures used within the scientific literature are diverse. Objectives: The aim of this scoping review is to provide a comprehensive overview of the effects of compression garments on commonly assessed outcome measures in response to exercise, including: performance, biomechanical, neuromuscular, cardiovascular, cardiorespiratory, muscle damage, thermoregulatory, and perceptual responses. Methods: A systematic search of electronic databases (PubMed, SPORTDiscus, Web of Science and CINAHL Complete) was performed from the earliest record to 27 December, 2020. Results: In total, 183 studies were identified for qualitative analysis with the following breakdown: performance and muscle function outcomes: 115 studies (63%), biomechanical and neuromuscular: 59 (32%), blood and saliva markers: 85 (46%), cardiovascular: 76 (42%), cardiorespiratory: 39 (21%), thermoregulatory: 19 (10%) and perceptual: 98 (54%). Approximately 85% (n = 156) of studies were published between 2010 and 2020. Conclusions: Evidence is equivocal as to whether garments improve physical performance, with little evidence supporting improvements in kinetic or kinematic outcomes. Compression likely reduces muscle oscillatory properties and has a positive effect on sensorimotor systems. Findings suggest potential increases in arterial blood flow; however, it is unlikely that compression garments meaningfully change metabolic responses, blood pressure, heart rate, and cardiorespiratory measures. Compression garments increase localised skin temperature and may reduce perceptions of muscle soreness and pain following exercise; however, rating of perceived exertion during exercise is likely unchanged. It is unlikely that compression garments negatively influence exercise-related outcomes. Future research should assess wearer belief in compression garments, report pressure ranges at multiple sites as well as garment material, and finally examine individual responses and varying compression coverage areas

The first bite: Imaginaries, promotional publics and the laboratory grown burger

In this paper we analyse a 2013 press conference hosting the world’s first tasting of a laboratory grown hamburger. We explore this as a media event: an exceptional performative moment in which common meanings are mobilised and a connection to a shared centre of reality is offered. We develop our own theoretical contribution – the promotional public – to characterise the affirmative and partial patchwork of carefully selected actors invoked during the burger tasting. Our account draws upon three areas of analysis: interview data with the scientists who developed the burger, media analysis of the streamed press conference itself, and media analysis of the social media tail during and following the event. We argue that the call to witness an experiment is a form of promotion but that such promotional material also offers an address that invokes a public with its attendant tensions.The research leading to this publication has received funding from the European Community’s Seventh Framework Programme (FP7/2007–2013) under grant agreement number 288971 (EPINET). Neil Stephens’ involvement has also received the support of the Economic and Social Research Council (ESRC). His work is part of the Research Programme of the ESRC Genomics Network at Cesagen (ESRC Centre for Economic and Social Aspects of Genomics). Neil Stephens’ work was also supported by the Wellcome Trust (WT096541MA) and a visiting scholarship to CGS Centre for Society and Genomics in The Netherlands, May to July 2011. This support is gratefully acknowledge

Building productive relationships with young people with SEBD in transition: the role of identity

This article reports a study of the experiences of school leavers with social, emotional and behavioural difficulties (SEBD), which identified supportive relationships as key elements in young people demonstrating resilience through this transitional period. Almost all the young people involved in the study had access to potential helpers, but few managed to establish productive relationships with them. Analysis of interviews, conducted over a 15 month period with a group of 15 school leavers, their parents and those who worked with them, suggested that barriers and facilitators to relationship development existed at two levels: institutional and individual. This article focuses on the individual level, in which identity processes appear to play a key role. These processes are used to explain why some school leavers built productive relationships and thrived, whilst many failed to do so, and struggled. These findings have implications for policy, practice and theory

SUSTAINABLE DEVELOPMENT AND THE PROCESS OF JUSTIFYING CHOICES IN A CONTROVERSIAL UNIVERSE

All in all, neither the path of the generic principle nor that of the reduction to existing principles would appear to be fully satisfactory as the basis for establishing the legitimacy of sustainable development or as a way of making sustainability a principle of legitimacy by its own. We should probably resign ourselves to seeing in this idea a composite construction, still striving towards the formation of a new "superior common principle", without this principle yet being able to be completely clarified and validated. What we have here is an example of the sort of "compromise" described by Boltanski and Thévenot (1991, p.338): "In the compromise, the participants abandon the idea of clarifying the principle of their agreement but endeavour to maintain a frame of mind aiming at the common good." If we want to consolidate the compromise developing around sustainability, it would be well advised to seek the support of tests using well-formed objects. To this end, steps should be taken to move the emphasis away from long-term and unknowable sustainability requirements and closer to secondbest criteria focused on the transitional developments and possible risks of intentional human action, the ways of managing the linking of the different temporalities in play -- as regards the biophysical phenomena, their understanding and the main worlds of legitimacy (Godard, 1992) -- and the introduction of deliberation within the present generations as to what they feel best describes their identity, those things they would like to pass on

Biomechanical analyses of the performance of Paralympians: From foundation to elite level

Biomechanical analysis of sport performance provides an objective method of determining performance of a particular sporting technique. In particular, it aims to add to the understanding of the mechanisms influencing performance, characterization of athletes, and provide insights into injury predisposition. Whilst the performance in sport of able-bodied athletes is well recognised in the literature, less information and understanding is known on the complexity, constraints and demands placed on the body of an individual with a disability. This paper provides a dialogue that outlines scientific issues of performance analysis of multi-level athletes with a disability, including Paralympians. Four integrated themes are explored the first of which focuses on how biomechanics can contribute to the understanding of sport performance in athletes with a disability and how it may be used as an evidence-based tool. This latter point questions the potential for a possible cultural shift led by emergence of user-friendly instruments. The second theme briefly discusses the role of reliability of sport performance and addresses the debate of two-dimensional and three-dimensional analysis. The third theme address key biomechanical parameters and provides guidance to clinicians, and coaches on the approaches adopted using biomechanical/sport performance analysis for an athlete with a disability starting out, to the emerging and elite Paralympian. For completeness of this discourse, the final theme is based on the controversial issues on the role of assisted devices and the inclusion of Paralympians into able-bodied sport is also presented. All combined, this dialogue highlights the intricate relationship between biomechanics and training of individuals with a disability. Furthermore, it illustrates the complexity of modern training of athletes which can only lead to a better appreciation of the performances to be delivered in the London 2012 Paralympic Games