Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families

Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. We have used a novel assay for this enzyme based on its ability to utilize zinc as a substrate to investigate the inheritance of EPP in nine affected families. Zinc chelatase activity was markedly reduced in peripheral blood mononuclear cells from 14 EPP patients (mean, 3.3 nmol Zn protohaem/h/mg protein; range, 0.3-8.0) when compared with 41 controls (16.8 +/- 3.6) p less than 0.01. In three families with parent-to-child transmission of disease, the asymptomatic parent had an enzymatic activity within the normal range. In three pedigrees where the parents were asymptomatic, enzymatic activities were below the 95% confidence limits in both. Zinc chelatase activity was below the mean control value in 17 of the 18 parents in nine affected pedigrees, and six of seven asymptomatic offspring of patients with protoporphyria. The findings suggest that EPP is not transmitted as a simple dominant trait and that inheritance of more than one gene may be required for disease expression.

A Kind of Integrity: explorations in history and drama

All of our knowledge of history is mediated in one way or another. Even the experience of first hand witnesses are, it may be argued, subject to semiotic influences such as physical and emotional position, attitudinal point of view and accuracy of recall. A great deal of historical knowledge is acquired through dramatised versions of historical events. As the characters who actually took part in historical events become the dramatis personae of re-enacted accounts, their stories are edited not only to meet dramatic necessities but the social, psychological and cultural needs of both storytellers and audience. The process of popularising history in this way thus becomes as much about the effects of events on people as the events themselves. This chapter describes and analyses the way in which four historical events have formed the basis of school based drama workshops that explore this process. The Player in Tom Stoppard’s ‘Rosencrantz and Guildenstern Are Dead’ posits that actors do on stage what others are supposed to do off, which, he claims, ‘is a kind of integrity.’ The chapter discusses how drama may be used to explore not only stories from history but how those stories may be mediated and so become open to multiple interpretations. The process of dramatising events from history provides opportunities to develop and exercise a critical literacy that is concerned not so much with either fact or empathy as with interrogating both why and how stories are told. Thus, the experience of exploring the symbiotic relationship between drama and history is dependent on an internal logic which may indeed be perceived as a kind of integrity.

A longitudinal study of child sleep in high and low risk families: relationship to early maternal settling strategies and child psychological functioning

Objectives To investigate whether sleep disturbances previously found to characterise high risk infants: (a) persist into childhood; (b) are influenced by early maternal settling strategies and (c) predict cognitive and emotional/behavioural functioning. Methods Mothers experiencing high and low levels of psychosocial adversity (risk) were recruited antenatally and longitudinally assessed with their children. Mothers completed measures of settling strategies and infant sleep postnatally, and at 12 and 18 months, infant age. At five years, child sleep characteristics were measured via an actigraphy and maternal report; IQ and child adjustment were also assessed. Results Sleep disturbances observed in high-risk infants persisted at five years. Maternal involvement in infant settling was greater in high risk mothers, and predicted less optimal sleep at five years. Poorer five year sleep was associated with concurrent child anxiety/depression and aggression, but there was limited evidence for an influence of early sleep problems. Associations between infant/child sleep characteristics and IQ were also limited. Conclusions Early maternal over-involvement in infant settling is associated with less optimal sleep in children, which in turn, is related to child adjustment. The findings highlight the importance of supporting parents in the early development of good settling practices, particularly in high-risk populations.

Haircut undone? The Greek drama and prospects for investment arbitration

As a result of the sovereign debt crisis that engulfed Europe in 2010, investors are much more likely to pursue dispute resolution options when faced with losses. This paper seeks to examine the position of investors who suffered losses in the Greek haircut of 2012 in the context of investment treaty arbitration. The paper evaluates arguments that investments in Greek sovereign bonds have been expropriated by the introduction of retrofit CACs and that compensation is payable as a result of the protections offered by BITs. The paper investigates whether sovereign bonds come within the definition of protected investment in BITs, assesses the degree to which CACs act as a jurisdictional bar to investor-state claims and attempts an evaluation of whether claims could be successful. The analysis uses as an illustration recent cases brought against Greece at ICSID. The paper concludes by considering whether the Greek haircut was expropriatory and reflects on the possible outcome of current arbitrations.

British television drama: past, present and future. 2nd edition

British Television Drama provides resources for critical thinking about key aspects of television drama in Britain since 1960, including institutional, textual, cultural, economic and audience-centred modes of study. It presents and contests significant strands of critical work in the field, and comprises essays by TV professionals and academics plus editors' introductions to each section that contextualise the chapters. The new edition includes a revised chapter by acclaimed TV producer Tony Garnett reflecting on his work since Cathy Come Home in the 1960s, new chapters by Phil Redmond, the creator of Brookside and Hollyoaks, and Cameron Roach, Head of Drama Commissioning at Sky TV and former executive producer of Waterloo Road. New academic analyses include work on Downton Abbey, The Sarah Jane Adventures, Ashes to Ashes, adaptations of Persuasion, and the changing production methods on Coronation Street.

What next for children's services? Can policy at a local or national level have any significant impact on the outcomes for children and their families?

In England at both strategic and operational levels, policy-makers in the public sector have undertaken considerable work on implementing the findings of the Every Child Matters report and subsequently through the Children's Act 2004. Legislation has resulted in many local authorities seeking to implement more holistic approaches to the delivery of children's services. At a strategic level this is demonstrated by the creation of integrated directorate structures providing for a range of services, from education to children's social care. Such services were generally under the management of the Director of Children's Services, holding statutory responsibilities for the delivery of services formally divided into the three sectors of education, health and social services. At a national level, more fundamental policy developments have sought to establish a framework through which policy-makers can address the underlying causes of deprivation, vulnerability and inequality. The Child Poverty Act, 2010, which gained Royal Assent in 2010, provides for a clear intention to reduce the number of children in poverty, acknowledging that ‘the best way to eradicate child poverty is to address the causes of poverty, rather than only treat the symptoms’. However, whilst the policy objectives of both pieces of legislation hold positive aspirations for children and young people, a change of policy direction through a change of government in May 2010 seems to be in direct contrast to the intended focus of these aims. This paper explores the impact of new government policy on the future direction of children's services both at the national and local levels. At the national level, we question the ability of the government to deliver the aspirations of the Child Poverty Act, 2010, given the broad range of influences and factors that can determine the circumstances in which a child may experience poverty. We argue that poverty is not simply an issue of the pressure of financial deprivation, but that economic recession and cuts in government spending will further increase the number of children living in poverty.

Effective interventions: 25 years outside the mainstream

25 years ago when the Durham conferences were in full swing, I presented results of investigations on language and behaviour in autism. I tentatively proposed that early language in autism might tell us about the cognitive skills of people with ASD and the behaviour might lead to greater understanding of which brain systems might be affected. In this presentation, I will update these topics and present a summary of other work I have been involved with in attempting to improve the lives of people with autism and their families. Data on three people with autism at the early stages of speech development showed an unusual pattern of learning colour and number names early. One possibility was that this skill represented a sign of weak central coherence – they only attended to one dimension. Colleagues of mine were equally puzzled so we tried to find out if my results could be replicated – they were not (see Schafer, Williams & Smith, 2014). Instead we found this pattern was also seen in Down Syndrome, but that early vocabulary in autism was associated with low Colorado Meaningfulness at least in comprehension. The Colorado Meaningfulness of a word is a measure of how many words can be associated with it and often involve extensive use of context. Our data suggest that the number of contexts in which a particular word can appear has a role in determining vocabulary in ASD which is consistent with the weak central coherence theory of autism. In the course of this work I also came across a group of young people with autism who appeared to have a written vocabulary but not a spoken one. It seems possible that print might be a medium of communication when speech is not. Repetitive behaviour in autism remains a mystery. We can use functional analysis to determine why the behaviour occurs, but a worryingly large percentage of behaviours are described as being internally driven or sensory reinforced. What does that mean in terms of brain activity – could it be system analogous to epilepsy, where brain activity becomes inappropriately synchronised? At the moment I cannot claim to have solved this problem, but if sensation is a driver then sensory interventions should make a difference. Data from a recent study will be presented to suggest that for some individuals this is the case. Social behaviour remains the key however, and it remains to be seen whether it is possible for social behaviour to be aided. One route that has potential is direct teaching of skills through drama and working with others who do not have social difficulties of the same type. The picture is complicated by changes in social skills with age and experience, but the failure of people with ASD to interact when in settings of social contact is little researched.

Using drama techniques for the teaching of early years science : a case study

This paper investigates the effect of drama techniques when employed to facilitate teaching and learning early years science. The focus is a lesson intervention designed for a group of children aged between four and five years old. A number of different drama techniques, such as teacher in role, hot seating and miming, were employed for the teaching of the water cycle. The techniques were implemented based on their nature and on what they can offer to young children considering their previous experiences. Before the beginning of the intervention, six children were randomly selected from the whole class, who were interviewed, aiming to identify their initial ideas in regards to the water cycle. The same children were interviewed after the end of the intervention in an attempt to identify the ways in which their initial ideas were changed. The results appear to be promising in terms of facilitating children’s scientific understanding and show an improvement in the children’s use of vocabulary in relation to the specific topic.

Control of contagious bovine pleuropneumonia: knowledge, attitudes, perceptions and practices in Narok district of Kenya

CBPP is an important transboundary disease in sub-Saharan Africa whose control is urgent. Participatory data collection involving 52 focus group discussions in 37 village clusters and key informant interviews, a cross-sectional study involving 232 households and a post-vaccination follow up involving 203 households was carried out in 2006-2007 in Narok South district of Kenya. This was to investigate knowledge, attitudes, perceptions and practices (KAPP) associated with control of CBPP as well as the adverse post-vaccination reactions in animals in order to advice the control policy. The community perceived trans-boundary CBPP threat to their cattle. They had traditional disease coping mechanisms and were conversant with CBPP prevention and control with 49.8% (95%CI: 42.8-56.7%) giving priority to CBPP control. However, 12.9% (95%CI: 9.0-18.1%) of pastoralists had no knowledge of any prevention method and 10.0% (95%CI: 6.5-14.7%) would not know what to do or would do nothing in the event of an outbreak. Although 43.5% (95%CI: 37.1-50.2%) of pastoralists were treating CBPP cases with antimicrobials, 62.5% (95%CI: 52.1-71.7%) of them doubted the effectiveness of the treatments. Pastoralists perceived vaccination to be the solution to CBPP but vaccination was irregular due to unavailability of the vaccine. Vaccination was mainly to control outbreaks rather than preventive and exhibited adverse post-vaccination reactions among 70.4% (95%CI: 63.6-76.5%) of herds and 3.8% (95%CI: 3.5-4.2%) of animals. Consequently, nearly 25.2% (95%CI: 18.5-33.2%) of pastoralists may resist subsequent vaccinations against CBPP. Pastoralists preferred CBPP vaccination at certain times of the year and that it is combined with other vaccinations. In conclusion, pastoralists were not fully aware of the preventive measures and interventions and post-vaccination reactions may discourage subsequent CBPP vaccinations. Consequently there is need for monitoring and management of post vaccination reactions and awareness creation on CBPP prevention and interventions and their merits and demerits. CBPP vaccine was largely unavailable to the pastoralists and the preference of the pastoralists was for vaccination at specified times and vaccine combinations which makes it necessary to avail the vaccine in conformity with the pastoralists preferences. In addition, planning vaccinations should involve pastoralists and neighbouring countries. As the results cannot be generalized, further studies on CBPP control methods and their effectiveness are recommended.