1,573 research outputs found

    The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria:effects across tasks and developmental stages

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    OBJECTIVE: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled following a protein-free diet, but cognitive impairments are still present. A number of questions remain to be answered related to which type of metabolic control is important, the age when it is important, the cognitive functions which are most affected and, the best tests to use to monitor cognitive health. METHOD: We investigated the impact of metabolic control at different ages on cognitive performance in 37 early treated adults with PKU. RESULTS: (a) Phe variation was as associated to performance as average Phe showing that stable dietary control is as important as strict control; (b) For some tasks, current and adult Phe were stronger predictors of performance than childhood or adolescent Phe, showing the importance of a strict diet even in adulthood; and (c) The relationship between performance and Phe levels varied depending on time and cognitive domain. For some functions (sustained attention, visuomotor coordination), Phe at the time of testing was the best predictor. While for other functions (visual attention, executive functions) there was a diminishing or stable relationship across time. CONCLUSION: Results show the importance of selecting the right tasks to monitor outcomes across ages, but also that the impact of bio-chemical disruptions is different for different functions, at different ages. We show how inherited metabolic diseases offer us a unique vantage point to inform our understanding of brain development and functioning. (PsycINFO Database Recor

    Cognitive outcomes in early-treated adults with phenylketonuria (PKU):a comprehensive picture across domains

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    OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature. METHOD: We tested 37 AwPKU with an unprecedented number of tasks (N = 28) and measures (N = 44) and compared results with 30 controls matched for age and education. RESULTS: We found (a) group impairments, particularly in tasks tapping speed of processing and complex executive functions; (b) high variability across participants, with a sizable number of AwPKU with completely normal performance (about 38%); (c) but also a sizable number of participants who were clearly impaired (about 24%); and (d) good performance in tasks tapping verbal learning, verbal memory and orthographic processing, indicating no generalized learning impairment. CONCLUSION: Our results indicate good outcomes, but also that deficits are still present with current treatment policies. (PsycINFO Database Recor

    Using nasal sprays to prevent respiratory tract infections: A qualitative study of online consumer reviews and primary care patient interviews

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    OBJECTIVES: Nasal sprays could be a promising approach to preventing respiratory tract infections (RTIs). This study explored lay people’s perceptions and experiences of using nasal sprays to prevent RTIs to identify barriers and facilitators to their adoption and continued use. DESIGN: Qualitative research. Study 1 thematically analysed online consumer reviews of an RTI prevention nasal spray. Study 2 interviewed patients about their reactions to and experiences of a digital intervention that promotes and supports nasal spray use for RTI prevention (reactively: at ‘first signs’ of infection and preventatively: following possible/probable exposure to infection). Interview transcripts were analysed using thematic analysis. SETTING: Primary care, UK. PARTICIPANTS: 407 online customer reviews. 13 purposively recruited primary care patients who had experienced recurrent infections and/or had risk factors for severe infections. RESULTS: Both studies identified various factors that might influence nasal spray use including: high motivation to avoid RTIs, particularly during the COVID-19 pandemic; fatalistic views about RTIs; beliefs about alternative prevention methods; the importance of personal recommendation; perceived complexity and familiarity of nasal sprays; personal experiences of spray success or failure; tolerable and off-putting side effects; concerns about medicines; and the nose as unpleasant and unhygienic. CONCLUSIONS: People who suffer disruptive, frequent or severe RTIs or who are vulnerable to RTIs are interested in using a nasal spray for prevention. They also have doubts and concerns and may encounter problems. Some of these may be reduced or eliminated by providing nasal spray users with information and advice that addresses these concerns or helps people overcome difficulties

    Astrobites as a Community-led Model for Education, Science Communication, and Accessibility in Astrophysics

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    Support for early career astronomers who are just beginning to explore astronomy research is imperative to increase retention of diverse practitioners in the field. Since 2010, Astrobites has played an instrumental role in engaging members of the community -- particularly undergraduate and graduate students -- in research. In this white paper, the Astrobites collaboration outlines our multi-faceted online education platform that both eases the transition into astronomy research and promotes inclusive professional development opportunities. We additionally offer recommendations for how the astronomy community can reduce barriers to entry to astronomy research in the coming decade

    Benzodiazepine use of community-based violent offenders : a preliminary investigation

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    Objective: To explore the relationship between benzodiazepine use and violent crime in a sample of community-based offenders. Methods: Participants were recruited via drug diversion and treatment programs in Melbourne, Australia. Data regarding benzodiazepine and other substance use, mental health, personality characteristics, and crime involvement was collected through semi-structured interviews conducted in 2011. Participants (n = 82, 79.3% male) were 21-56 years old, predominantly Australian-born (89%), with 14.6% identifying as Aboriginal or Torres Strait Islanders. Eligibility criteria were having been charged with a criminal offence in the previous six months and at least monthly benzodiazepine use. Group differences between violent (n = 11) and non-violent offenders were assessed via independent samples t-tests (two-tailed) and non-parametric tests. Results: Individuals charged with violent index offences were significantly more likely to use higher average doses of alprazolam (p = .040), and exhibit benzodiazepine dependence (p = .037) as well as report high levels of sensation seeking, prior violence, and the diagnoses of depression and personality disorder, than individuals charged with non-violent index offences. Conclusions: The findings suggest the existence of a complex dynamic between mental health and violent offending that may be influenced by benzodiazepine use, in particular alprazolam. A core implication of these preliminary findings includes attending to the interpersonal skills and adaptive coping resources of violent offenders. Key words: benzodiazepines, alprazolam, violence, impulsive behaviour, mental healt

    Predicting consumer biomass, size-structure, production, catch potential, responses to fishing and associated uncertainties in the world's marine ecosystems

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    Existing estimates of fish and consumer biomass in the world’s oceans are disparate. This creates uncertainty about the roles of fish and other consumers in biogeochemical cycles and ecosystem processes, the extent of human and environmental impacts and fishery potential. We develop and use a size-based macroecological model to assess the effects of parameter uncertainty on predicted consumer biomass, production and distribution. Resulting uncertainty is large (e.g. median global biomass 4.9 billion tonnes for consumers weighing 1 g to 1000 kg; 50% uncertainty intervals of 2 to 10.4 billion tonnes; 90% uncertainty intervals of 0.3 to 26.1 billion tonnes) and driven primarily by uncertainty in trophic transfer efficiency and its relationship with predator-prey body mass ratios. Even the upper uncertainty intervals for global predictions of consumer biomass demonstrate the remarkable scarcity of marine consumers, with less than one part in 30 million by volume of the global oceans comprising tissue of macroscopic animals. Thus the apparently high densities of marine life seen in surface and coastal waters and frequently visited abundance hotspots will likely give many in society a false impression of the abundance of marine animals. Unexploited baseline biomass predictions from the simple macroecological model were used to calibrate a more complex size- and trait-based model to estimate fisheries yield and impacts. Yields are highly dependent on baseline biomass and fisheries selectivity. Predicted global sustainable fisheries yield increases ≈4 fold when smaller individuals (< 20 cm from species of maximum mass < 1kg) are targeted in all oceans, but the predicted yields would rarely be accessible in practice and this fishing strategy leads to the collapse of larger species if fishing mortality rates on different size classes cannot be decoupled. Our analyses show that models with minimal parameter demands that are based on a few established ecological principles can support equitable analysis and comparison of diverse ecosystems. The analyses provide insights into the effects of parameter uncertainty on global biomass and production estimates, which have yet to be achieved with complex models, and will therefore help to highlight priorities for future research and data collection. However, the focus on simple model structures and global processes means that non-phytoplankton primary production and several groups, structures and processes of ecological and conservation interest are not represented. Consequently, our simple models become increasingly less useful than more complex alternatives when addressing questions about food web structure and function, biodiversity, resilience and human impacts at smaller scales and for areas closer to coasts

    The diversity, evolution and ecology of Salmonella in venomous snakes

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    BACKGROUND: Reptile-associated Salmonella bacteria are a major, but often neglected cause of both gastrointestinal and bloodstream infection in humans globally. The diversity of Salmonella enterica has not yet been determined in venomous snakes, however other ectothermic animals have been reported to carry a broad range of Salmonella bacteria. We investigated the prevalence and diversity of Salmonella in a collection of venomous snakes and non-venomous reptiles. METHODOLOGY/PRINCIPLE FINDINGS: We used a combination of selective enrichment techniques to establish a unique dataset of reptilian isolates to study Salmonella enterica species-level evolution and ecology and used whole-genome sequencing to investigate the relatedness of phylogenetic groups. We observed that 91% of venomous snakes carried Salmonella, and found that a diverse range of serovars (n = 58) were carried by reptiles. The Salmonella serovars belonged to four of the six Salmonella enterica subspecies: diarizonae, enterica, houtanae and salamae. Subspecies enterica isolates were distributed among two distinct phylogenetic clusters, previously described as clade A (52%) and clade B (48%). We identified metabolic differences between S. diarizonae, S. enterica clade A and clade B involving growth on lactose, tartaric acid, dulcitol, myo-inositol and allantoin. SIGNIFICANCE: We present the first whole genome-based comparative study of the Salmonella bacteria that colonise venomous and non-venomous reptiles and shed new light on Salmonella evolution. Venomous snakes examined in this study carried a broad range of Salmonella, including serovars which have been associated with disease in humans such as S. Enteritidis. The findings raise the possibility that venomous snakes could be a reservoir for Salmonella serovars associated with human salmonellosis

    Development and implementation of a structured intervention for alcohol use disorders for telephone helpline services

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    A six-session intervention for harmful alcohol use was piloted via a 24-hour alcohol and other drug (AOD) helpline, assessing feasibility of telephone-delivered treatment. The intervention, involving practice elements from Motivational Interviewing, Cognitive-Behavioral Therapy, and node-link mapping, was evaluated using a case file audit (n D 30) and a structured telephone interview one month after the last session (n D 22). Average scores on the Alcohol Use Disorder Identification Test (AUDIT) dropped by more than 50%, and there were significant reductions in psychological distress. Results suggest that, even among dependent drinkers, a telephone intervention offers effective and efficient treatment for those unable or unwilling to access face-to-face treatment

    Amenability of groups and GG-sets

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    This text surveys classical and recent results in the field of amenability of groups, from a combinatorial standpoint. It has served as the support of courses at the University of G\"ottingen and the \'Ecole Normale Sup\'erieure. The goals of the text are (1) to be as self-contained as possible, so as to serve as a good introduction for newcomers to the field; (2) to stress the use of combinatorial tools, in collaboration with functional analysis, probability etc., with discrete groups in focus; (3) to consider from the beginning the more general notion of amenable actions; (4) to describe recent classes of examples, and in particular groups acting on Cantor sets and topological full groups

    Preliminary archaeoentomological analyses of permafrost-preserved cultural layers from the pre-contact Yup’ik Eskimo site of Nunalleq, Alaska : implications, potential and methodological considerations

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    Acknowledgements Site excavation and samples collection were conducted by archaeologists from the University of Aberdeen, with the help of archaeologists and student excavators from the University of Aberdeen University of Alaska Fairbanks and Bryn Mawr College, Kuskokwim Campus, College of Rural Alaska and residents of Quinhagak and Mekoryuk. This study is funded through AHRC grant to the project ‘Understanding Cultural Resilience and Climate Change on the Bering Sea through Yup’ik Ecological Knowledge, Lifeways, Learning and Archaeology’ to Rick Knecht, Kate Britton and Charlotta Hillderal (University of Aberdeen; AH/K006029/1). Thanks are due to Qanirtuuq Inc. and Quinhagak, Alaska for sampling permissions and to entomologists working at the CNC in Ottawa for allowing access to reference collections of beetles, lice and fleas. Yves Bousquet, Ales Smetana and Anthony E. Davies are specially acknowledged for their help with the identification of coleopteran specimens. Finally, we would also like to thank Scott Elias for useful comments on the original manuscript.Peer reviewedPublisher PD
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