Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a ''Systematic Survey of Balanced Chromosomal Rearrangements in Finns. ''In the first family, carriers (n=6) manifest with learning problems in childhood, and later with unexplained neurological symptoms (chronic headache, balance problems, tremor, fatigue) and cerebral infarctions in their 50s. In the second family, two carriers suffer from tetralogy of Fallot, one from transient ischemic attack and one from migraine. The translocation cosegregates with these vascular phenotypes and neurological symptoms. Methods and Results We narrowed down the breakpoint regions using mate pair sequencing. We observed conserved haplotypes around the breakpoints, pointing out that this translocation has arisen only once. The chromosome 1 breakpoint truncates a CHRM3 processed transcript, and is flanked by the 5 end of CHRM3 and the 3 end of RYR2. TRHDE, KCNC2, and ATXN7L3B flank the chromosome 12 breakpoint. Conclusions This study demonstrates a balanced t(1;12)(q43;q21.1) with conserved haplotypes on the derived chromosomes. The translocation seems to result in vascular phenotype, with or without neurological symptoms, in at least two families. We suggest that the translocation influences the positional expression of CHRM3, RYR2,TRHDE, KCNC2, and/or ATXN7L3B.Peer reviewe

A study on contactless airborne transfer of textile fibres between different garments in small compact semi-enclosed spaces

Interpretation of fibre evidence at activity level requires extensive knowledge of all the possible transfer mechanisms that may explain the presence of fibres on a recipient surface of interest. Herein, we investigate a transfer method that has been largely understudied in previous literature: contactless transfer between garments through airborne travel. Volunteers were asked to wear UV-luminescent garments composed of different textile materials and situate themselves in a semi-enclosed space (elevator) for a pre-determined period of time with other participants, who wore non-luminescent recipient garments. The latter were then inspected for fibres using UV-luminescent photographic techniques. Results showed that contactless transfer between garments is possible. Indeed, a number of fibres were observed after most of the experiments. As many as 66 and 38 fibres were observed in the experiments involving cotton and polyester donor garments, compared to 2 and 1 fibres in those involving acrylic and wool donor garments, respectively. In this regard, the type of donor garment was found to be a significant factor. Multifactorial ANOVA supported these observations (p < 0.001) and further indicated a statistically significant influence of elevator door opening/closing (p < 0.001), people entering/exiting (p = 0.078) and the recipient garment (p = 0.030). Therefore, contactless transfer of fibres between garments can occur and can do so in (ostensibly) high numbers. This should be taken into consideration when interpreting fibre evidence at activity level and may have a major implication for the assignment of evidential values in some specific cases

Dosimetry experiments at the MEDUSA Facility (Little Mountain).

A series of experiments on the MEDUSA linear accelerator radiation test facility were performed to evaluate the difference in dose measured using different methods. Significant differences in dosimeter-measured radiation dose were observed for the different dosimeter types for the same radiation environments, and the results are compared and discussed in this report

The Emergence of Group Dynamics from Contextualised Social Processes: A Complexity-Oriented Grounded-Theory Approach

A formal group, within a University, is typically created to accomplish work goals through on-going coordination, combination, and integration of member resources. Group behaviour emerges from the confluence of individual and social forces and behaviours enacted to pursue desired goals. Interactions between group members in context create patterns of group processes and behaviours, and how these patterns change over time creates group dynamics. However, group dynamics do not simply reflect intra-group processes; they also reflect influences that arise from larger contexts within which the group is embedded. Group behaviour can, therefore, be argued to reflect emergent self-organisation, sensitivity to time and initial conditions, and causal ambiguity, properties associated with complex, dynamic and adaptive systems. Much of the research into group dynamics and behaviour (especially experimental social psychology research employing a positivist reductionist theoretical perspective) has tended not to look at groups through such a complexity lens. The research reported in this thesis was intended to push into this frontier. The fundamental question addressed in this thesis is: 'What occurs during group interactions associated with the emergence and maintenance of different types of group dynamics and how do those dynamics tend to unfold over time?' I argue in this thesis that a deep and contextual understanding of the complexity of group dynamics can be achieved using an interpretivist/constructivist perspective coupled with a grounded theory approach employing methodologies that permit the deeper exploration of the meaning of individual as well as collective group behaviours. To achieve the depth of learning needed in this research, I focused on a single long-standing group, a committee that existed within a larger university. I gathered qualitative data using three distinct data gathering strategies: (1) participant observation of the group at its regular monthly meetings over a 12- month period; (2) semi-structured interviews with current and former individual group members; and (3) the review of historical documents (e.g., minutes of meetings, discussion papers) relevant to the group's initial genesis and evolution over the time period prior to this research as well as my own field notes amassed over the duration of the study. I employed MAXQDA 11 Plus to support my analyses of the qualitative data amassed using these three strategies and to aid the development of grounded theory that accounted for the group's contextual dynamics. The results of this study revealed that when the focal group was addressing routine group tasks, systematic and consistent patterns of behaviour were observed. However, when the group was exposed to or perceived an internal or external shock, some interesting and unexpected emergent patterns of behaviour were observed. These behaviours could be traced to the desire for a select few members to maintain the historically based group identity, function, and direction. This maintenance process was accomplished through the application of varying types of power to offset possible bifurcation. For example, one class of such behaviours focused on 'leadership hijacking', where control over the group's consideration of an issue was taken over by a person who was not the discussion leader but for whom that issue was 'hot' and perceived to be strongly threatening. Of the number of external shocks observed, the interplay between the university's and other larger contextual agendas and the group's agenda was visible and often vigorous. This type of shock caused confrontation and escalation behaviours to emerge with the goal, once again, to maintain the historically based group identity and agenda. The addition of data gathered from semi-structured interviews with current and former group members and the review of historical documents relevant to the group provided further evidence relevant to how members strived to maintain the historically based group agenda through the application of their unique brand of group dynamics. In some cases, depending upon the issue at hand, the maintenance of this historically based group agenda centred upon one group member and, in other cases, involved the creation of shorter- and longer-term coalitions. Thus, an understanding of the dynamics of interaction within this group was achieved through close examination of the various contexts within which the group was embedded as well as the contexts of the individual group members. The results support the need to employ a complex adaptive systems perspective when trying to unpack group dynamics as they play out in real time. This research also reinforces the value of adopting an interpretivist perspective to enhance the depth of this learning

Pit Crew Approach to Pre Hospital Trauma Resuscitation

IntroductionPre hospital trauma care is often delivered by dual crewed ambulances supported by additional resources as necessary and available. Coordinating resuscitation of a critically injured patient may require multiple simultaneous actions. Equally, a large number of practitioners can hinder patient care if not coordinated.AimsTo describe a multi disciplinary, scaleabe approach to pre hospital trauma care suitable for small and large multi disciplinary teams. Methods The MCI medical team (as part of Motorsport Rescue Services) is a PHECC-registered multidisciplinary team, which provides medical cover at Motorcycle road racing events in Ireland. The MCI medical team has significant experience of major trauma and routinely performs prehospital anaesthesia for trauma patients. We have evolved a pit crew approach to trauma care with pre defined roles and interventions assigned to a five person team, three clinical members, a scribe and a team lead. The approach is both scalable and collapsible, meaning that if multiple patients are present, roles can be merged; if additional clinical input is required, roles can also be supplemented. Each team member carries equipment and medications specific to their role, allowing efficiencies at the patients side.ResultsThe pit crew approach to pre hospital trauma care has evolved over a decade and is routinely implemented at motorcycle road races in Ireland.ConclusionsThe pit crew trauma approach, although applicable to a pre defined five person team in unique circumstances, may also be applicable to ad hoc clinical teams that typically form in the pre hospital arena

The importance of different frailty domains in a population based sample in England

Background: The aim was to estimate the prevalence of frailty and relative contribution of physical/balance, nutritive, cognitive and sensory frailty to important adverse health states (falls, physical activity levels, outdoor mobility, problems in self-care or usual activities, and lack of energy or accomplishment) in an English cohort by age and sex. Methods: Analysis of baseline data from a cohort of 9803 community-dwelling participants in a clinical trial. The sample was drawn from a random selection of all people aged 70 or more registered with 63 general practices across England. Data were collected by postal questionnaire. Frailty was measured with the Strawbridge questionnaire. We used cross sectional, multivariate logistic regression to estimate the association between frailty domains and known correlates and adjusted for age. Some models were stratified by sex. Results: Mean age of participants was 78 years (sd 5.7), range 70 to 101 and 47.5% (4653/9803) were men. The prevalence of overall frailty was 20.7% (2005/9671) and there was no difference in prevalence by sex (Odds Ratio 0.98; 95% Confidence Interval 0.89 to 1.08). Sensory frailty was the most common and this was reported by more men (1823/4586) than women (1469/5056; Odds Ratio for sensory frailty 0.62, 95% Confidence Interval 0.57 to 0.68). Men were less likely than women to have physical or nutritive frailty. Physical frailty had the strongest independent associations with adverse health states. However, sensory frailty was independently associated with falls, less frequent walking, problems in self-care and usual activities, lack of energy and accomplishment. Conclusions: Physical frailty was more strongly associated with adverse health states, but sensory frailty was much more common. The health gain from intervention for sensory frailty in England is likely to be substantial, particularly for older men. Sensory frailty should be explored further as an important target of intervention to improve health outcomes for older people both at clinical and population level.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.08/14/41/DH_/Department of Health/United Kingdom Project number 08/14/41/Health Technology Assessment Programmepre-print, post-print, publisher's version/PD

Long-term collaboration reaps dividends for clinical research in chronic movement disorders.

Poster presented at the Clinical Trials Symposium, RD&E Exeter, 5/11/15

Community Research Conducted from an Acute Hospital: Challenges and Solutions.

Conference poster presented at the Clinical Trials Symposium, RD&E 5/11/15.PDSafe is a randomised controlled trial to find out whether physiotherapy can reduce the number of falls in people with Parkinson’s Disease. PDSafe uses an intensive exercise programme and methods to change physical behaviours. The trial is based in the community, and is locally ran from the Royal Devon and Exeter Hospital

Outreach initiatives operated by universities for increasing interest in science and technology

This is an Accepted Manuscript of an article published by Taylor & Francis in European Journal of Engineering Edutaion on 2016, available online: http://www.tandfonline.com/10.1080/03043797.2015.1121468Since the 1990s, the low number of students choosing to study science and technology in higher education has been on the societal agenda and many initiatives have been launched to promote awareness regarding career options. The initiatives particularly focus on increasing enrolment in the engineering programmes. This article describes and compares eight European initiatives that have been established and operated by universities (and in some cases through collaboration with other actors in society). Each initiative is summarised in a short essay that discusses motivation, organisation, pedagogical approach, and activities. The initiatives are characterised by comparing the driving forces behind their creation, how the initiative activities relate to the activities at the university, size based on the number of participants and cost per participant and pedagogical framework. There seem to be two main tracks for building outreach activities, one where outreach activities are based on the university’s normal activities, and one where outreach activities are designed specifically for the visiting students.Gumaelius, L.; Almqvistb, M.; Arnadottir, A.; Axelsson, A.; Conejero, JA.; García Sabater, JP.; Klitgaard, L.... (2016). Outreach initiatives operated by universities for increasing interest in science and technology. European Journal of Engineering Education. 41(6):589-622. https://doi.org/10.1080/03043797.2015.1121468S58962241

Seasonal-to-interannual prediction of North American coastal marine ecosystems: forecast methods, mechanisms of predictability, and priority developments

© The Author(s), 2020. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Jacox, M. G., Alexander, M. A., Siedlecki, S., Chen, K., Kwon, Y., Brodie, S., Ortiz, I., Tommasi, D., Widlansky, M. J., Barrie, D., Capotondi, A., Cheng, W., Di Lorenzo, E., Edwards, C., Fiechter, J., Fratantoni, P., Hazen, E. L., Hermann, A. J., Kumar, A., Miller, A. J., Pirhalla, D., Buil, M. P., Ray, S., Sheridan, S. C., Subramanian, A., Thompson, P., Thorne, L., Annamalai, H., Aydin, K., Bograd, S. J., Griffis, R. B., Kearney, K., Kim, H., Mariotti, A., Merrifield, M., & Rykaczewski, R. Seasonal-to-interannual prediction of North American coastal marine ecosystems: forecast methods, mechanisms of predictability, and priority developments. Progress in Oceanography, 183, (2020): 102307, doi:10.1016/j.pocean.2020.102307.Marine ecosystem forecasting is an area of active research and rapid development. Promise has been shown for skillful prediction of physical, biogeochemical, and ecological variables on a range of timescales, suggesting potential for forecasts to aid in the management of living marine resources and coastal communities. However, the mechanisms underlying forecast skill in marine ecosystems are often poorly understood, and many forecasts, especially for biological variables, rely on empirical statistical relationships developed from historical observations. Here, we review statistical and dynamical marine ecosystem forecasting methods and highlight examples of their application along U.S. coastlines for seasonal-to-interannual (1–24 month) prediction of properties ranging from coastal sea level to marine top predator distributions. We then describe known mechanisms governing marine ecosystem predictability and how they have been used in forecasts to date. These mechanisms include physical atmospheric and oceanic processes, biogeochemical and ecological responses to physical forcing, and intrinsic characteristics of species themselves. In reviewing the state of the knowledge on forecasting techniques and mechanisms underlying marine ecosystem predictability, we aim to facilitate forecast development and uptake by (i) identifying methods and processes that can be exploited for development of skillful regional forecasts, (ii) informing priorities for forecast development and verification, and (iii) improving understanding of conditional forecast skill (i.e., a priori knowledge of whether a forecast is likely to be skillful). While we focus primarily on coastal marine ecosystems surrounding North America (and the U.S. in particular), we detail forecast methods, physical and biological mechanisms, and priority developments that are globally relevant.This study was supported by the NOAA Climate Program Office’s Modeling, Analysis, Predictions, and Projections (MAPP) program through grants NA17OAR4310108, NA17OAR4310112, NA17OAR4310111, NA17OAR4310110, NA17OAR4310109, NA17OAR4310104, NA17OAR4310106, and NA17OAR4310113. This paper is a product of the NOAA/MAPP Marine Prediction Task Force