Ng, J; Papandreou, A; Heales, SJ; Kurian, MA
The monoamine neurotransmitter disorders are important genetic syndromes that cause disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin homeostasis. These disorders result in aberrant monoamine synthesis, metabolism and transport. The clinical phenotypes are predominantly neurological, and symptoms resemble other childhood neurological disorders, such as dystonic or dyskinetic cerebral palsy, hypoxic ischaemic encephalopathy and movement disorders. As a consequence, monoamine neurotransmitter disorders are under-recognized and often misdiagnosed. The diagnosis of monoamine neurotransmitter disorders requires detailed clinical assessment, cerebrospinal fluid neurotransmitter analysis and further supportive diagnostic investigations. Prompt and accurate diagnosis of neurotransmitter disorders is paramount, as many are responsive to...
Bande, O; Abu El Asrar, R; Braddick, D; Dumbre, S; Pezo, V; Schepers, G; Pinheiro, VB; Lescrinier, E; Holliger, P; Marliere, P; Herdewijn, P
The synthesis, base-pairing properties and in vitro and in vivo characteristics of 5-methyl-isocytosine (isoCMe) and isoguanine (isoG) nucleosides, incorporated in an HNA(h) (hexitol nucleic acid)–DNA(d) mosaic backbone, are described. The required h-isoG phosphoramidite was prepared by a selective deamination as a key step. As demonstrated by Tm measurements the hexitol sugar showed slightly better mismatch discrimination against dT. The d-isoG base mispairing follows the order T>G>C while the h-isoG base mispairing follows the order G>C>T. The h- and d-isoCMe bases mainly mispair with G. Enzymatic incorporation experiments show that the hexitol backbone has a variable effect on selectivity. In the...
Cleridou, K; Patalay, P; Martin, P
BACKGROUND: Discrepancies are often found between child and parent reports of child psychopathology, nevertheless the role of the child’s presenting difficulties in relation to these is underexplored. This study investigates whether parent–child agreement on the conduct and emotional scales of the Strengths and Difficulties Questionnaire (SDQ) varied as a result of certain child characteristics, including the child’s presenting problems to clinical services, age and gender.
METHODS: The UK-based sample consisted of 16,754 clinical records of children aged 11–17, the majority of which were female (57%) and White (76%). The dataset was provided by the Child Outcomes Research Consortium , which collects...
Forge, A; Taylor, RR; Dawson, SJ; Lovett, M; Jagger, DJ
Behavioural anomalies suggesting an inner ear disorder were observed in a colony of transgenic mice. Affected animals were profoundly deaf. Severe hair bundle defects were identified in all outer and inner hair cells (OHC, IHC) in the cochlea and in hair cells of vestibular macular organs, but hair cells in cristae were essentially unaffected. Evidence suggested the disorder was likely due to gene disruption by a randomly inserted transgene construct. Whole-genome sequencing identified interruption of the SorCS2 (Sortilin-related VPS-10 domain containing protein) locus. Real-time-qPCR demonstrated disrupted expression of SorCS2 RNA in cochlear tissue from affected mice and this was confirmed...
Cook, S; D'Arcy, R; Edmonds, A; Fukuda, M; Hatanaka, K; Hino, Y; Kuno, Y; Lancaster, M; Mori, Y; Ogitsu, T; Sakamoto, H; Sato, A; Tran, NH; Truong, NM; Wing, M; Yamamoto, A; Yoshida, M
A new muon beam line, the muon science innovative channel, was set up at the Research Center for Nuclear Physics, Osaka University, in Osaka, Japan, using the 392 MeV proton beam impinging on a target. The production of an intense muon beam relies on the efficient capture of pions, which subsequently decay to muons, using a novel superconducting solenoid magnet system. After the pion-capture solenoid, the first 36° of the curved muon transport line was commissioned and the muon flux was measured. In order to detect muons, a target of either copper or magnesium was placed to stop muons at...
Gkotsis, G; Oellrich, A; Velupillai, S; Liakata, M; Hubbard, TJP; Dobson, RJB; Dutta, R
The number of people affected by mental illness is on the increase and with it the burden on health and social care use, as well as the loss of both productivity and quality-adjusted life-years. Natural language processing of electronic health records is increasingly used to study mental health conditions and risk behaviours on a large scale. However, narrative notes written by clinicians do not capture first-hand the patients’ own experiences, and only record cross-sectional, professional impressions at the point of care. Social media platforms have become a source of ‘in the moment’ daily exchange, with topics including well-being and mental...
Dror, IE; Morgan, RM; Rando, C; Nakhaeizadeh, S
Mu, J; Yan, XG; Spurgeon, SK; Mao, Z
This paper presents a trajectory tracking control scheme for a two-wheeled mobile robot using sliding mode techniques. The stability of the designed sliding mode dynamics is analysed and reachability of the sliding mode is guaranteed in a given region with the proposed controller. A robot system including a micro-controller, the Arduino Due based on the ARM Cortex-M3, is used to implement the proposed control algorithm. Two DC motors controlled by PWM signals are used as actuators to implement the proposed feedback control. Simulation results are presented and compared with the results of practical experiments.
Ledeneva, A; Bratu, R; Köker, P
The key question currently driving innovations in corruption studies is
why anti-corruption reforms do not work. The explanatory factors for
the disappointing outcomes of anti-corruption interventions over the last
twenty-five years include those associated with: 1) understanding and
modelling of corrupt practices; 2) measurement and monitoring; and 3)
policy design and implementation.
This special issue emerges from the international seminar series on
innovations in corruption studies in Europe and beyond held by the
School of Slavonic and East European Studies (SSEES), University College
London, between October 2015 and March 2016. The purpose of the series,
which brought together researchers of the project ‘Anticorruption Policies
Revisited: Global Trends and European Responses to...
Shekshnia, Stanislav; Ledeneva, Alena; Denisova-Schmidt, Elena
This article focuses on strategies of ‘managing business corruption’ at the firm level and offers insights for practitioners in systemically corrupt environments. Our study of 110 CEOs and owners of companies operating in Russia tested a new, ethnographic approach to managing corruption at a firm level. We conceptualize ‘managing business corruption’ as devising and implementing strategies that mitigate corruption-related risks in an effective way. We argue that such strategies have to target specific non-compliant practices, identified bottom-up, yet also amount to a pragmatic, problem-solving framework at the firm level, implemented top-down. Leadership is a key factor which defines effectiveness of...
Baez-Camargo, Claudia; Ledeneva, Alena
In this article we challenge the prevalent anti-corruption approaches in three ways. First, rather than discussing the failures of anticorruption reforms and the normative anticorruption rhetoric of the leadership in Mexico, Russia and Tanzania, we explore patterns of informal governance that work effectively, allowing the authorities to stay in power and citizens to access services and resources. Second, we link these practices to the impossibility of a clear public/private divide and identify those practical norms that enable its seamless crossover in these countries. Third, we find that the resilience of corrupt behaviours is associated with the fact that the informal...
Haase, M; Davidson, G; Binns, J; Thomas, G; Bose, N
The development of large medium-speed catamarans aims increasing economic viability and reducing the possible negative influence on the environment of fast sea transportation. These vessels are likely to operate at hump speed where wave-making can be the dominating component of the total resistance. Shallow water may considerably amplify the wave-making and hence the overall drag force. Computational fluid dynamics is used to predict the drag force of medium-speed catamarans at model and full scale in infinite and restricted water to study the impact on the resistance. Steady and unsteady shallow-water effects that occur in model testing or full-scale operation are...
Harrison, R; Breithoff, E
Archaeologists have long been interested in contemporary material culture, but only recently has a dedicated subfield of archaeology of the contemporary world begun to emerge. Whilst concerned mainly with the archaeology of the early to mid-twentieth and twenty-first centuries, in its explicit acknowledgement of the contemporary archaeological record as multi-temporal, it is not defined by a focus on a specific time period so much as a particular disposition towards time, material things, the archaeological process and its politics. This paper considers how the subfield might be characterised by its approaches to particular sources and its current and emerging thematic foci....
Pellicano, E; Kenny, L; Brede, J; Klaric, E; Lichwa, H; McMillin, R
Children’s emerging executive functions (EF) have been shown to be critical for a whole range of other functions, including school readiness and later academic success. Here we examine for the first time whether individual differences in EF are uniquely associated with autistic children’s readiness to learn in school, beyond general and developmental influences in age and ability. Thirty autistic and 30 typical preschool children, matched on age and ability, were assessed on EF (working memory, inhibition, set-shifting) and school readiness measures. Autistic children performed significantly worse on school readiness measures and EF measures relative to typical children. Furthermore, individual differences...
Tumor immunotherapy has come to the fore fuelled by impressive clinical responses to checkpoint inhibitor antibodies in a range of adult malignancies and by the success of chimeric antigen receptor T cells targeting adult and pediatric B-cell malignancies. Clearly, if appropriately fine-tuned, the immune system has the capability to seek out and destroy cancer. Studies in pediatric solid cancers so far have not shown the therapeutic potential checkpoint inhibitors described in adult cancers and this may reflect fewer tumor-associated antigens or different immune evasion mechanisms. One potential approach to overcome these limitations will be to combine interventions to undermine immune...
Matz, SC; Gladstone, JJ; Stillwell, D
We make three points in response to Boyce, Daly, Hounkpatin, and Wood (2017). First, we clarify a misunderstanding of the goal of our analyses, which was to investigate the links between life satisfaction and spending patterns, rather than spending volume. Second, we report a simulation study we ran to demonstrate that our results were not driven by the proposed statistical artifact. Finally, we discuss the broader issue of why, in a world of big data, small but reliable effect sizes can be valuable.
Bärnighausen, T; Tugwell, P; Røttingen, J-A; Shemilt, I; Rockers, P; Geldsetzer, P; Lavis, J; Grimshaw, J; Daniels, K; Brown, A; Bor, J; Tanner, J; Rashidian, A; Barreto, M; Vollmer, S; Atun, R
Quasi-experimental studies are increasingly used to establish causal relationships in epidemiology and health systems research. Quasi-experimental studies offer important opportunities to increase and improve evidence on causal effects: (i) they can generate causal evidence when randomized controlled trials are impossible; (ii) they typically generate causal evidence with a high degree of external validity; (iii) they avoid the threats to internal validity that arise when participants in non-blinded experiments change their behavior in response to the experimental assignment to either intervention or control arm (such as compensatory rivalry or resentful demoralization); (iv) they are often well-suited to generate causal evidence on...
Aloe, AM; Becker, BJ; Duvendack, M; Valentine, JC; Shemilt, I; Waddington, H
OBJECTIVE: To identify variables that must be coded when synthesizing primary studies that use quasi-experimental designs. STUDY DESIGN AND SETTING: All quasi-experimental (QE) designs. RESULTS: When designing a systematic review of QE studies potential sources of heterogeneity - both theory-based and methodological - must be identified. We outline key components of inclusion criteria for syntheses of quasi-experimental studies. We provide recommendations for coding content-relevant and methodological variables, and outlined the distinction between bivariate effect sizes and partial (i.e., adjusted) effect sizes. Designs used and controls employed are viewed as of greatest importance. Potential sources of bias and confounding are also...
Glanville, J; Eyers, J; Jones, AM; Shemilt, I; Wang, G; Johansen, M; Fiander, M; Rothstein, H
OBJECTIVE: This paper reviews the available evidence and guidance on methods to identify reports of quasi-experimental (QE) studies to inform systematic reviews of health care, public health, international development, education, crime and justice, and social welfare. STUDY DESIGN AND SETTING: Research, guidance and examples of search strategies were identified by searching a range of databases, key guidance documents, selected reviews, conference proceedings and personal communication. Current practice and research evidence were summarised. RESULTS: 4914 records were retrieved by database searches and additional documents were obtained by other searches. QE studies are challenging to identify efficiently because they have no standardized...