Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis

Currently there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, first, that family networks hold strong potential for cascading genetic information, making the adoption of a family centred approach an efficient strategy for this community. However, this is dependent on provision of high quality and timely information from health care providers. Secondly, families’ experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals’ views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information

The trade-off between taxi time and fuel consumption in airport ground movement

Environmental impact is a very important agenda item in many sectors nowadays, which the air transportation sector is also trying to reduce as much as possible. One area which has remained relatively unexplored in this context is the ground movement problem for aircraft on the airport’s surface. Aircraft have to be routed from a gate to a runway and vice versa and it is still unknown whether fuel burn and environmental impact reductions will best result from purely minimising the taxi times or whether it is also important to avoid multiple acceleration phases. This paper presents a newly developed multi-objective approach for analysing the trade-off between taxi time and fuel consumption during taxiing. The approach consists of a combination of a graph-based routing algorithm and a population adaptive immune algorithm to discover different speed profiles of aircraft. Analysis with data from a European hub airport has highlighted the impressive performance of the new approach. Furthermore, it is shown that the trade-off between taxi time and fuel consumption is very sensitive to the fuel-related objective function which is used

Access to and adequacy of psychological services for adult patients in UK hospices: a national, cross-sectional survey

Abstract Background Providing psychological support to people living with terminal illness is a fundamental part of hospice care. Recent research on delivery of psychological services in hospices in the United Kingdom (UK) on a national level, including inequalities or variation in practice, is limited. A nationwide survey will highlight any differences in provision and in doing so help focus future research and inform best practice both within the UK, and internationally. The specific objectives of this survey are to (1) chart the types of psychological support available to adult patients in hospices in the UK in line with the National Institute for Health and Care Excellence model; (2) explore how services are organised; and (3) gather service perspectives on adequacy of care, and facilitators and barriers to appropriate practice. Methods A cross-sectional online survey emailed to adult hospices in the UK in November–December 2019. One staff member involved in the delivery and/or organisation of psychological support was invited to participate per hospice. Of 193 invited hospices, 116 took part. Results Sixteen percent rated their hospice psychological service as wholly adequate. The majority reported that services can access specialist professionals, but many relied on external referrals. Barriers to best practice included funding and staff capacity; facilitators included clear referral structures, audit and appropriate needs and outcome assessments. Conclusions Access to psychological professionals has improved since the last survey 15 years ago, but the majority of responders felt their overall service was not wholly adequate. Basic emotional support is largely felt to be sufficient, but our results indicate a need for improvements in access to more specialist care. Partnerships with external mental health services may be key. Our findings highlight core facilitators and barriers to providing good psychological care at the end of life that should be considered by services both within the UK and on an international level. </jats:sec

Higher Order Analogues of Tracy-Widom Distributions via the Lax Method

We study the distribution of the largest eigenvalue in formal Hermitian one-matrix models at multicriticality, where the spectral density acquires an extra number of k-1 zeros at the edge. The distributions are directly expressed through the norms of orthogonal polynomials on a semi-infinite interval, as an alternative to using Fredholm determinants. They satisfy non-linear recurrence relations which we show form a Lax pair, making contact to the string literature in the early 1990's. The technique of pseudo-differential operators allows us to give compact expressions for the logarithm of the gap probability in terms of the Painleve XXXIV hierarchy. These are the higher order analogues of the Tracy-Widom distribution which has k=1. Using known Backlund transformations we show how to simplify earlier equivalent results that are derived from Fredholm determinant theory, valid for even k in terms of the Painleve II hierarchy.Comment: 24 pages. Improved discussion of Backlund transformations, in addition to other minor improvements in text. Typos corrected. Matches published versio

Growth of uniform infinite causal triangulations

We introduce a growth process which samples sections of uniform infinite causal triangulations by elementary moves in which a single triangle is added. A relation to a random walk on the integer half line is shown. This relation is used to estimate the geodesic distance of a given triangle to the rooted boundary in terms of the time of the growth process and to determine from this the fractal dimension. Furthermore, convergence of the boundary process to a diffusion process is shown leading to an interesting duality relation between the growth process and a corresponding branching process.Comment: 27 pages, 6 figures, small changes, as publishe

Cultural basis of social ‘deficits’ in autism spectrum disorders

There is very little research that specifically looks at how autism spectrum disorders are perceived in various communities. This qualitative research was conducted with parents who had children on the autistic spectrum belonging to four different ethnic communities (White British, Somali, West African and South Asian- 63 in total) and living in the UK. The study found that the importance that the parents give to various social skills varied on the basis of their cultural background and the gender of the parent. This is an important aspect to consider while providing support and services to individuals on the autism spectrum and their family members if the services have to be appropriate for their needs. This consideration would also enable the individuals on the autism spectrum to develop appropriate social skills required within their cultural groups. This is a preliminary study and further research on the topic is required

MATE, a single front-end ASIC for silicon strip, Si(Li) and CsI detectors

MATE (Must ASIC for Time and Energy) will process signals delivered from the hodoscope MUST2. The hodoscope consists of six large area telescopes (100 cm²), each made up of a double sided Si strip detector followed by a Si(Li) and Csi crystal. MATE has sixteen channels and can deliver three types of analogue information per channel; time of flight and energy loss of the detected particle; value of leakage DC current per channel. MATE also gives a trigger logical signal corresponding to the cross over of an adjustable threshold value. The analogue information is transmitted as differential current through twisted pair to the acquisition system based on VXI-C. The slow control is assured via the I2C industrial protocol. The first version of MATE for Si(strip) is available. An update of MATE will allow it to be used for the Si(Li) and Csi detectors. MATE is a novel R&D project for nuclear physics which includes both energy and time measurements with good resolution and high energy dynamic range