Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation

A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma. After an initial period of stabilization, she has shown progression of neurologic symptoms with recurrence of storage material in the transplanted liver

A Deep Census of Outlying Star Formation in the M101 Group

We present deep, narrowband imaging of the nearby spiral galaxy M101 and its group environment to search for star-forming dwarf galaxies and outlying H ii regions. Using the Burrell Schmidt telescope, we target the brightest emission lines of star-forming regions, Hα, Hβ, and [O iii], to detect potential outlying star-forming regions. Our survey covers ∼6 deg2 around M101, and we detect objects in emission down to an Hα flux level of 5.7 10-17 erg s-1 cm-2 (equivalent to a limiting star formation rate of 1.7 10-6 M o˙ yr-1 at the distance of M101). After careful removal of background contaminants and foreground M stars, we detect 19 objects in emission in all three bands and 8 objects in emission in Hα and [O iii]. We compare the structural and photometric properties of the detected sources to Local Group dwarf galaxies and star-forming galaxies in the 11HUGS and SINGG surveys. We find no large population of outlying H ii regions or undiscovered star-forming dwarfs in the M101 Group, as most sources (93%) are consistent with being M101 outer-disk H ii regions. Only two sources were associated with other galaxies: a faint star-forming satellite of the background galaxy NGC 5486 and a faint outlying H ii region near the M101 companion NGC 5474. We also find no narrowband emission associated with recently discovered ultradiffuse galaxies and starless H i clouds near M101. The lack of any hidden population of low-luminosity star-forming dwarfs around M101 suggests a rather shallow faint-end slope (as flat as α ∼ -1.0) for the star-forming luminosity function in the M101 Group. We discuss our results in the context of tidally triggered star formation models and the interaction history of the M101 Group

Pre-launch calibration of the HIRDLS instrument

Report about the aims for the calibration of the HIRDLS instrument

Why are we not flooded by involuntary thoughts about the past and future? Testing the cognitive inhibition dependency hypothesis

© The Author(s) 2018In everyday life, involuntary thoughts about future plans and events occur as often as involuntary thoughts about the past. However, compared to involuntary autobiographical memories (IAMs), such episodic involuntary future thoughts (IFTs) have become a focus of study only recently. The aim of the present investigation was to examine why we are not constantly flooded by IFTs and IAMs given that they are often triggered by incidental cues while performing undemanding activities. One possibility is that activated thoughts are suppressed by the inhibitory control mechanism, and therefore depleting inhibitory control should enhance the frequency of both IFTs and IAMs. We report an experiment with a between-subjects design, in which participants in the depleted inhibition condition performed a 60-min high-conflict Stroop task before completing a laboratory vigilance task measuring the frequency of IFTs and IAMs. Participants in the intact inhibition condition performed a version of the Stroop task that did not deplete inhibitory control. To control for physical and mental fatigue resulting from performing the 60-min Stroop tasks in experimental conditions, participants in the control condition completed only the vigilance task. Contrary to predictions, the number of IFTs and IAMs reported during the vigilance task, using the probe-caught method, did not differ across conditions. However, manipulation checks showed that participants’ inhibitory resources were reduced in the depleted inhibition condition, and participants were more tired in the experimental than in the control conditions. These initial findings suggest that neither inhibitory control nor physical and mental fatigue affect the frequency of IFTs and IAMs.Peer reviewedFinal Published versio

Reinforcement learning or active inference?

This paper questions the need for reinforcement learning or control theory when optimising behaviour. We show that it is fairly simple to teach an agent complicated and adaptive behaviours using a free-energy formulation of perception. In this formulation, agents adjust their internal states and sampling of the environment to minimize their free-energy. Such agents learn causal structure in the environment and sample it in an adaptive and self-supervised fashion. This results in behavioural policies that reproduce those optimised by reinforcement learning and dynamic programming. Critically, we do not need to invoke the notion of reward, value or utility. We illustrate these points by solving a benchmark problem in dynamic programming; namely the mountain-car problem, using active perception or inference under the free-energy principle. The ensuing proof-of-concept may be important because the free-energy formulation furnishes a unified account of both action and perception and may speak to a reappraisal of the role of dopamine in the brain

Burden of Illness in UK Subjects with Reported Respiratory Infections Vaccinated or Unvaccinated against Influenza: A Retrospective Observational Study

<div><p>Objective</p><p>Detailed data are lacking on influenza burden in the United Kingdom (UK). The objective of this study was to estimate the disease burden associated with influenza-like illness (ILI) in the United Kingdom stratified by age, risk and influenza vaccination status.</p><p>Methods</p><p>This retrospective, cross-sectional, exploratory, observational study used linked data from the General Practice Research Database and the Hospital Episode Statistics databases to estimate resource use and cost associated with ILI in the UK.</p><p>Results</p><p>Data were included from 156,193 patients with ≥1 general practitioner visit with ILI. There were 21,518 high-risk patients, of whom 12,514 (58.2%) were vaccinated and 9,004 (41.8%) were not vaccinated, and 134,675 low-risk patients, of whom 17,482 (13.0%) were vaccinated and 117,193 (87.0%) were not vaccinated. High-risk vaccinated patients were older (p<0.001) and had more risk conditions (p<0.001). High-risk (odds ratio [OR] 2.16) or vaccinated (OR 1.19) patients had a higher probability of >1 general practitioner visit compared with low-risk and unvaccinated patients. Patients who were high-risk and vaccinated had a reduced risk of >1 general practitioner visit (OR 0.82; p<0.001). High-risk individuals who were also vaccinated had a lower probability of ILI-related hospitalisation than individuals who were high-risk or vaccinated alone (OR 0.59). In people aged ≥65 years, the mortality rate was lower in vaccinated than unvaccinated individuals (OR 0.75). The cost of ILI-related GP visits and hospital admissions in the UK over the study period in low-risk vaccinated patients was £27,391,142 and £141,932,471, respectively. In low-risk unvaccinated patients the corresponding values were £168,318,709 and £112,534,130, respectively.</p><p>Conclusions</p><p>Although vaccination rates in target groups have increased, many people are still not receiving influenza vaccination, and the burden of ILI in the United Kingdom remains substantial. Improving influenza vaccination uptake may have the potential to reduce this burden.</p></div

Cross-Cultural Validation of the Inventory of School Motivation (ISM) in the Asian Setting: Hong Kong and the Philippines

Students’ achievement goals in school have received increasing research attention because they have been shown to be important in predicting important outcomes. As such, there has been a growing interest in measuring and comparing them across different cultural groups. However, these comparisons cannot be made until validity evidence has been attained to support the use of an instrument in the new cultural setting. In this study, we investigated the cross-cultural applicability of the Inventory of School Motivation (ISM, McInerney et al. American Educational Research Journal 34:207-236, 1997) in the Hong Kong Chinese and Philippine contexts using both within-network and between-network approaches to construct validation. The ISM measures four types of achievement goals: mastery, performance, social, and extrinsic goals. 1,406 high school students from Hong Kong (n = 697) and the Philippines (n = 709) participated. Results of the within-network test showed that the ISM had good internal consistency reliability and the confirmatory factor analysis provided support for the hypothesized four-factor model. Multigroup confirmatory factor analyses supported invariance of factor loadings across the two samples. The between-network test also indicated that these achievement goals correlated systematically with different aspects of students’ self-concepts. These findings support the applicability of the ISM among Hong Kong Chinese and Filipino students

SMARTPOP: Inferring the impact of social dynamics on genetic diversity through high speed simulations

Background: Social behavior has long been known to influence patterns of genetic diversity, but the effect of social processes on population genetics remains poorly quantified - partly due to limited community-level genetic sampling (which is increasingly being remedied), and partly to a lack of fast simulation software to jointly model genetic evolution and complex social behavior, such as marriage rules.Results: To fill this gap, we have developed SMARTPOP - a fast, forward-in-time genetic simulator - to facilitate large-scale statistical inference on interactions between social factors, such as mating systems, and population genetic diversity. By simultaneously modeling genetic inheritance and dynamic social processes at the level of the individual, SMARTPOP can simulate a wide range of genetic systems (autosomal, X-linked, Y chromosomal and mitochondrial DNA) under a range of mating systems and demographic models. Specifically designed to enable resource-intensive statistical inference tasks, such as Approximate Bayesian Computation, SMARTPOP has been coded in C++ and is heavily optimized for speed and reduced memory usage.Conclusion: SMARTPOP rapidly simulates population genetic data under a wide range of demographic scenarios and social behaviors, thus allowing quantitative analyses to address complex socio-ecological questions. © 2014 Guillot and Cox; licensee BioMed Central Ltd

A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease

Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association studies (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of 185 thousand CAD cases and controls, interrogating 6.7 million common (MAF>0.05) as well as 2.7 million low frequency (0.005<MAF<0.05) variants. In addition to confirmation of most known CAD loci, we identified 10 novel loci, eight additive and two recessive, that contain candidate genes that newly implicate biological processes in vessel walls. We observed intra-locus allelic heterogeneity but little evidence of low frequency variants with larger effects and no evidence of synthetic association. Our analysis provides a comprehensive survey of the fine genetic architecture of CAD showing that genetic susceptibility to this common disease is largely determined by common SNPs of small effect siz