KBG syndrome

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment

Phylogenetic and environmental context of a Tournaisian tetrapod fauna

The end-Devonian to mid-Mississippian time interval has long been known for its depauperate palaeontological record, especially for tetrapods. This interval encapsulates the time of increasing terrestriality among tetrapods, but only two Tournaisian localities previously produced tetrapod fossils. Here we describe five new Tournaisian tetrapods ($\textit{Perittodus apsconditus}$, $\textit{Koilops herma}$, $\textit{Ossirarus kierani}$, $\textit{Diploradus austiumensis}$ and $\textit{Aytonerpeton microps}$) from two localities in their environmental context. A phylogenetic analysis retrieved three taxa as stem tetrapods, interspersed among Devonian and Carboniferous forms, and two as stem amphibians, suggesting a deep split among crown tetrapods. We also illustrate new tetrapod specimens from these and additional localities in the Scottish Borders region. The new taxa and specimens suggest that tetrapod diversification was well established by the Tournaisian. Sedimentary evidence indicates that the tetrapod fossils are usually associated with sandy siltstones overlying wetland palaeosols. Tetrapods were probably living on vegetated surfaces that were subsequently flooded. We show that atmospheric oxygen levels were stable across the Devonian/Carboniferous boundary, and did not inhibit the evolution of terrestriality. This wealth of tetrapods from Tournaisian localities highlights the potential for discoveries elsewhere.NERC consortium grants NE/J022713/1 (Cambridge), NE/J020729/1 (Leicester), NE/J021067/1 (BGS), NE/J020621/1 (NMS) and NE/J021091/1 (Southampton

Parental perceptions of barriers and facilitators to preventing child unintentional injuries within the home: a qualitative study

Background Childhood unintentional injury represents an important global health problem. Most of these injuries occur at home, and many are preventable. The main aim of this study was to identify key facilitators and barriers for parents in keeping their children safe from unintentional injury within their homes. A further aim was to develop an understanding of parents’ perceptions of what might help them to implement injury prevention activities. Methods Semi-structured interviews were conducted with sixty-four parents with a child aged less than five years at parent’s homes. Interview data was transcribed verbatim, and thematic analysis was undertaken. This was a Multi-centre qualitative study conducted in four study centres in England (Nottingham, Bristol, Norwich and Newcastle). Results Barriers to injury prevention included parents’ not anticipating injury risks nor the consequences of some risk-taking behaviours, a perception that some injuries were an inevitable part of child development, interrupted supervision due to distractions, maternal fatigue and the presence of older siblings, difficulties in adapting homes, unreliability and cost of safety equipment and provision of safety information later than needed in relation to child age and development. Facilitators for injury prevention included parental supervision and teaching children about injury risks. This included parents’ allowing children to learn about injury risks through controlled risk taking, using “safety rules” and supervising children to ensure that safety rules were adhered to. Adapting the home by installing safety equipment or removing hazards were also key facilitators. Some parents felt that learning about injury events through other parents’ experiences may help parents anticipate injury risks. Conclusions There are a range of barriers to, and facilitators for parents undertaking injury prevention that would be addressable during the design of home safety interventions. Addressing these in future studies may increase the effectiveness of interventions

Differential information in large games with strategic complementarities

We study equilibrium in large games of strategic complementarities (GSC) with differential information. We define an appropriate notion of distributional Bayesian Nash equilibrium and prove its existence. Furthermore, we characterize order-theoretic properties of the equilibrium set, provide monotone comparative statics for ordered perturbations of the space of games, and provide explicit algorithms for computing extremal equilibria. We complement the paper with new results on the existence of Bayesian Nash equilibrium in the sense of Balder and Rustichini (J Econ Theory 62(2):385–393, 1994) or Kim and Yannelis (J Econ Theory 77(2):330–353, 1997) for large GSC and provide an analogous characterization of the equilibrium set as in the case of distributional Bayesian Nash equilibrium. Finally, we apply our results to riot games, beauty contests, and common value auctions. In all cases, standard existence and comparative statics tools in the theory of supermodular games for finite numbers of agents do not apply in general, and new constructions are required

Phenomenology After Conceptual Art

The reception of phenomenology in art criticism reached its apex in the mid-1960s in its application to Minimalism in the United States. The focus was on the embodied, direct perceptual experience of Minimalist sculpture, but in light of Conceptual art’s ‘dematerialised’ practices, which developed as the decade progressed, the interest in phenomenology waned. This essay looks at the history of this reception and presents Merleau-Ponty’s late ontological work as a corrective to an inadequate understanding of phenomenology in critical discourses on art at the time. It argues that the late Merleau-Ponty offers tools for an effective critique of early conceptualism’s idealism, as well as a basis on which the ‘dematerialised’ and dispersed ontology of the art work shared by both Conceptual and more recent Post-Conceptual practices can be investigated

Acceptability of financial incentives and penalties for encouraging uptake of healthy behaviours: focus groups

BACKGROUND: There is evidence that financial incentive interventions, which include both financial rewards and also penalties, are effective in encouraging healthy behaviours. However, concerns about the acceptability of such interventions remain. We report on focus groups with a cross-section of adults from North East England exploring their acceptance of financial incentive interventions for encouraging healthy behaviours amongst adults. Such information should help guide the design and development of acceptable, and effective, financial incentive interventions. METHODS: Eight focus groups with a total of 74 adults were conducted between November 2013 and January 2014 in Newcastle upon Tyne, UK. Focus groups lasted approximately 60 minutes and explored factors that made financial incentives acceptable and unacceptable to participants, together with discussions on preferred formats for financial incentives. Verbatim transcripts were thematically coded and analysed in Nvivo 10. RESULTS: Participants largely distrusted health promoting financial incentives, with a concern that individuals may abuse such schemes. There was, however, evidence that health promoting financial incentives may be more acceptable if they are fair to all recipients and members of the public; if they are closely monitored and evaluated; if they are shown to be effective and cost-effective; and if clear health education is provided alongside health promoting financial incentives. There was also a preference for positive rewards rather than negative penalties, and for shopping vouchers rather than cash incentives. CONCLUSIONS: This qualitative empirical research has highlighted clear suggestions on how to design health promoting financial incentives to maximise acceptability to the general public. It will also be important to determine the acceptability of health promoting financial incentives in a range of stakeholders, and in particular, those who fund such schemes, and policy-makers who are likely to be involved with the design, implementation and evaluation of health promoting financial incentive schemes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12889-015-1409-y) contains supplementary material, which is available to authorized users

Impact of national malaria control scale-up programmes in Africa: magnitude and attribution of effects

<p>Abstract</p> <p>Background</p> <p>Since 2005, malaria control scale-up has progressed in many African countries. Controlled studies of insecticide-treated mosquito nets (ITNs), indoor residual spraying (IRS), intermittent preventive treatment during pregnancy (IPTp) and malaria case management suggested that when incorporated into national programmes a dramatic health impact, likely more than a 20% decrease in all-cause childhood mortality, was possible. To assess the extent to which national malaria programmes are achieving impact the authors reviewed African country programme data available through 2009.</p> <p>Methods</p> <p>National survey data, published literature, and organization or country reports produced during 2000-2009 were reviewed to assess available malaria financing, intervention delivery, household or target population coverage, and reported health benefits including infection, illness, severe anaemia, and death.</p> <p>Results</p> <p>By the end of 2009, reports were available for ITN household ownership (n = 34) and IPTp use (n = 27) in malaria-endemic countries in Africa, with at least two estimates (pre-2005 and post-2005 intervals). Information linking IRS and case management coverage to impact were more limited. There was generally at least a three-fold increase in household ITN ownership across these countries between pre-2005 (median of 2.4% of households with at least one ITN) and post-2005 (median of 32.5% of households with at least one ITN). Ten countries had temporal data to assess programme impact, and all reported progress on at least one impact indicator (typically on mortality); in under-five year mortality rates most observed a decline of more than 20%. The causal relationship between malaria programme scale-up and reduced child illness and mortality rates is supported by biologic plausibility including mortality declines consistent with experience from intervention efficacy trials, consistency of findings across multiple countries and different epidemiologic settings, and temporal congruity where morbidity and mortality declines have been documented in the 18 to 36 months following intervention scale-up.</p> <p>Conclusions</p> <p>Several factors potentially have contributed to recent health improvement in African countries, but there is substantial evidence that achieving high malaria control intervention coverage, especially with ITNs and targeted IRS, has been the leading contributor to reduced child mortality. The documented impact provides the evidence required to support a global commitment to the expansion and long-term investment in malaria control to sustain and increase the health impact that malaria control is producing in Africa.</p

One thousand plant transcriptomes and the phylogenomics of green plants

Abstract: Green plants (Viridiplantae) include around 450,000–500,000 species1, 2 of great diversity and have important roles in terrestrial and aquatic ecosystems. Here, as part of the One Thousand Plant Transcriptomes Initiative, we sequenced the vegetative transcriptomes of 1,124 species that span the diversity of plants in a broad sense (Archaeplastida), including green plants (Viridiplantae), glaucophytes (Glaucophyta) and red algae (Rhodophyta). Our analysis provides a robust phylogenomic framework for examining the evolution of green plants. Most inferred species relationships are well supported across multiple species tree and supermatrix analyses, but discordance among plastid and nuclear gene trees at a few important nodes highlights the complexity of plant genome evolution, including polyploidy, periods of rapid speciation, and extinction. Incomplete sorting of ancestral variation, polyploidization and massive expansions of gene families punctuate the evolutionary history of green plants. Notably, we find that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns. The increasing availability of high-quality plant genome sequences and advances in functional genomics are enabling research on genome evolution across the green tree of life