83 research outputs found

    Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

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    3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form. Both patients responded favourably to relatively low dosages of serine supplementation with cessation of seizures, normalisation of their EEG abnormalities and improvement of well-being and behaviour. These cases illustrate that 3-PGDH deficiency can present with mild symptoms and should be considered as a treatable disorder in the differential diagnosis of mild developmental delay and seizures. Synopsis: we present a novel mild phenotype in patients with 3-PGDH deficiency

    Leveraging open innovation to improve society: past achievements and future trajectories

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    Open innovation (OI) is an approach which describes a purposive attempt to draw together knowledge from different contributors to develop and exploit innovation. It has become clear that OI directly benefits organisations' economic performance and resilience, but researchers, practitioners, and policy makers became also convinced that OI might be the way forward to tackle the world’s most pressing societal challenges, representing unresolved Grand Challenges, which can only be weathered by diverse sets of collaborative partners that join forces. Although anecdotal evidence points at how OI practices can be employed to achieve societal impact not only in private firms but also in public organisations, very little understanding exists -beyond anecdotal- to link OI to societal impact. This special issue has the ambition to start the discussion and establish a framework as the stepping stone to tackle this complex research gap

    Fatal cerebral edema associated with serine deficiency in CSF

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    Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and enzyme measurement (in one patient) excluded 3-PGDH deficiency. Deficiencies in other serine biosynthesis enzymes were highly unlikely on clinical grounds. On basis of the fasting state, ketone bodies and lactate in plasma, urine and CSF, we speculate that reduced serine levels were due to its use as gluconeogenic substrate, conversion to pyruvate by brain serine racemase or decreased L-serine production because of a lack of glucose. These are the first strikingly similar cases of patients with a clear secondary serine deficiency associated with a toxic encephalopathy

    The utilisation of health research in policy-making: Concepts, examples and methods of assessment

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    The importance of health research utilisation in policy-making, and of understanding the mechanisms involved, is increasingly recognised. Recent reports calling for more resources to improve health in developing countries, and global pressures for accountability, draw greater attention to research-informed policy-making. Key utilisation issues have been described for at least twenty years, but the growing focus on health research systems creates additional dimensions. The utilisation of health research in policy-making should contribute to policies that may eventually lead to desired outcomes, including health gains. In this article, exploration of these issues is combined with a review of various forms of policy-making. When this is linked to analysis of different types of health research, it assists in building a comprehensive account of the diverse meanings of research utilisation. Previous studies report methods and conceptual frameworks that have been applied, if with varying degrees of success, to record utilisation in policy-making. These studies reveal various examples of research impact within a general picture of underutilisation. Factors potentially enhancing utilisation can be identified by exploration of: priority setting; activities of the health research system at the interface between research and policy-making; and the role of the recipients, or 'receptors', of health research. An interfaces and receptors model provides a framework for analysis. Recommendations about possible methods for assessing health research utilisation follow identification of the purposes of such assessments. Our conclusion is that research utilisation can be better understood, and enhanced, by developing assessment methods informed by conceptual analysis and review of previous studies

    Learning from the UK’s research impact assessment exercise: a case study of a retrospective impact assessment exercise and questions for the future

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    National governments spend significant amounts of money supporting public research. However, in an era where the international economic climate has led to budget cuts, policymakers increasingly are looking to justify the returns from public investments, including in science and innovation. The so-called ‘impact agenda’ which has emerged in many countries around the world is part of this response; an attempt to understand and articulate for the public what benefits arise from the research that is funded. The United Kingdom is the most progressed in implementing this agenda and in 2014 the national research assessment exercise, the Research Excellence Framework, for the first time included the assessment of research impact as a component. For the first time within a dual funding system, funding would be awarded not only on the basis of the academic quality of research, but also on the wider impacts of that research. In this paper we outline the context and approach taken by the UK government, along with some of the core challenges that exist in implementing such an exercise. We then synthesise, together for the first time, the results of the only two national evaluations of the exercise and offer reflections for future exercises both in the UK and internationally
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