Miracle-dz/UniFAR-FTUs huggingface dataset:
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3’ of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0.00094) and in a UK Biobank case-control analysis (30,802 self-reported cases, 78,586 controls, p = 0.015); and rs58389158 (odds ratio = 1.132, p = 1.8x10-9), which replicated in the UK Biobank (p = 0.00021). The latter SNP lies just outside exon 8 and is highly correlated (r2 = 0.96) with the missense SNP rs5756795 in exon 7 of TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. We further tested these SNPs in phenotypes from audiologist notes available on a subset of GERA (4,903 individuals), stratified by case/control status, to construct an independent replication test, and found a significant effect of rs58389158 on speech reception threshold (SRT; overall GERA meta-analysis p = 1.9x10-6). We also tested variants within exons of 132 other previously-identified hearing loss genes, and identified two common additional significant SNPs: rs2877561 (synonymous change in ILDR1, p = 6.2x10-5), which replicated in the UK Biobank (p = 0.00057), and had a significant GERA SRT (p = 0.00019) and speech discrimination score (SDS; p = 0.0019); and rs9493627 (missense change in EYA4, p = 0.00011) which replicated in the UK Biobank (p = 0.0095), other GERA groups (p = 0.0080), and had a consistent significant result for SRT (p = 0.041) and suggestive result for SDS (p = 0.081). Large cohorts with GWAS data and electronic health records may be a useful method to characterize the genetic architecture of ARHI.
Dorsal striatum mediates deliberate decision making, not late‐stage, stimulus–response learning

We investigated a controversy regarding the role of the dorsal striatum (DS) in deliberate decision‐making versus late‐stage, stimulus–response learning to the point of automatization. Participants learned to associate abstract images with right or left button presses explicitly before strengthening these associations through stimulus–response trials with (i.e., Session 1) and without (i.e., Session 2) feedback. In Session 1, trials were divided into response‐selection and feedback events to separately assess decision versus learning processes. Session 3 evaluated stimulus–response automaticity using a location Stroop task. DS activity correlated with response‐selection and not feedback events in Phase 1 (i.e., Blocks 1–3), Session 1. Longer response times (RTs), lower accuracy, and greater intertrial variability characterized Phase 1, suggesting deliberation. DS activity extinguished in Phase 2 (i.e., Blocks 4–12), Session 1, once RTs, response variability, and accuracy stabilized, though stimulus–response automatization continued. This was signaled by persisting improvements in RT and accuracy into Session 2. Distraction between Sessions 1 and 2 briefly reintroduced response uncertainty, and correspondingly, significant DS activity reappeared in Block 1 of Session 2 only. Once stimulus–response associations were again refamiliarized and deliberation unnecessary, DS activation disappeared for Blocks 2–8, Session 2. Interference from previously learned right or left button responses with incongruent location judgments in a location Stroop task provided evidence that automaticity of stimulus–specific button‐press responses had developed by the end of Session 2. These results suggest that DS mediates decision making and not late‐stage learning, reconciling two, independently evolving and well‐supported literatures that implicate DS in different cognitive functions. Hum Brain Mapp 38:6133–6156, 2017. © 2017 Wiley Periodicals, Inc.
Depression: major problem for public health

Abstract The aim of this Editorial is to discuss depression as an important disorder for public health. The literature regarding epidemiology, consequences, adequacy of service delivery and prevention of depression is reviewed. Depression is a common disorder with high lifetime rates, particularly in women, and those experiencing social adversity. It is a major cause of disability, and causes death both by suicide and due to raised rates of physical disorders. Many cases are undiagnosed and treatment is often inadequate. Primary prevention is not yet easily feasible but secondary prevention by earlier recognition, public and professional education, can produce benefits. There is a need for public health programmes aimed at improving recognition, treatment, and reducing consequences.
Effects of Gender, Diagnostic Labels, and Causal Theories on Willingness to Report Symptoms of Depression

Previous research has investigated whether lower rates of diagnosed depression in men may be due in part to sex differences in how men and women respond to the various contextual cues associated with self-report measures of depression (Sigmon et al., 2005). In the current study, a community sample completed an online CES-D self-report measure, and we manipulated both the causal theory of depression (controllable or uncontrollable) and the type of label (stress or depression) presented along with the measure. The effect of these factors on willingness to self-report was evaluated according to sex (n = 445) and gender (n = 443) in two separate 2 × 2 × 2 cross-sectional designs. Results indicate that men were less likely to self-report when the term depression was used in conjunction with an uncontrollable causal theory attributing symptoms to factors outside one's personal control (e.g., biology or environmental events). This effect may contribute to the documented sex difference in diagnosed rates of depre.
Resolution of Coordination Ellipses in Biological Named Entities Using Conditional Random Fields

Coordination ellipsis is a linguistic phenomenon where relevant information is eliminated from the linguistic surface expression of a coordination. Thereby, the assumption is that readers can easily reconstruct the eliminated material given appropriate background knowledge. This phenomenon is particularly abundant in science jargon. As far as named entity recognition (NER) is concerned, failing resolution of coordination ellipsis leads to serious degradation in the performance of NER systems. Usually, they recognize elliptical coordinations, wrongly, as complex single entity mentions or classify correctly only non-elliptical parts of coordinations. As an alternative, we propose a methodology for decomposing complex coordinated entity expressions into constituent conjuncts, for determining the missing elements and thus reconstructing explicitly all of the single entity mentions. We present here a novel supervised machine learning-based approach to the resolution of elliptical coordinations in noun phrases. For the task of conjunct identification the model achieves performance of 93% on the biomedical G ENIA corpus.
The power spectrum of galaxy clustering in the APM Survey

We measure the power spectrum of galaxy clustering in real space from the APM Galaxy Survey. We present an improved technique for the numerical inversion of Limber’s equation that relates the angular clustering of galaxies to an integral over the power spectrum in three dimensions. Our approach is underpinned by a large ensemble of mock galaxy catalogues constructed from the Hubble Volume N-body simulations. The mock catalogues are used to test for systematic effects in the inversion algorithm and to estimate the errors on our measurement. We find that we can recover the power spectrum to an accuracy of better than 15% over three decades in wavenumber. A key advantage of the use of mock catalogues to infer errors is that we can apply our technique on scales for which the density fluctuations are not Gaussian, thus probing the regime that offers the best constraints on models of galaxy formation. On large scales, our measurement of the power spectrum is consistent with the shape of the mass power spectrum in the popular “concordance” cold dark matter model. The galaxy power spectrum on small scales is strongly affected by nonlinear evolution of density fluctuations, and, to a lesser degree, by galaxy bias. The rms variance in the galaxy
The processing of numbers in choice‐reaction tasks

Two experiments examined how numbers are processed in choice-reaction tasks. Participants were presented with a Simon task in which they responded to sets of numbers (1 and 100; 100 and 900). The purpose of the study was to examine whether the numbers would be coded in terms of their spatial location as well as in terms of their relative magnitude. Analysis of the results demonstrated that left responses were associated with small numbers while right responses were associated with large numbers. Further, standard Simon effects were observed. The findings were interpreted in terms of multiple stimulus coding with stimuli being coded in terms of the relevant dimension (the identity of the stimuli) as well as in terms of two irrelevant features (spatial location and relative magnitude).
c-Jun N-Terminal Protein Kinase (JNK) 2/3 Is Specifically Activated by Stress, Mediating c-Jun Activation, in the Presence of Constitutive JNK1 Activity in Cerebellar Neurons

c-Jun is considered a major regulator of both neuronal death and regeneration. Stress in primary cultured CNS neurons induces phosphorylation of c-Jun serines 63 and 73 and increased c-Jun protein. However, total c-Jun N-terminal protein kinase (JNK) activity does not increase, and no satisfactory explanation for this paradox has been available. Here we demonstrate that neuronal stress induces strong activation of JNK2/3 in the presence of constitutively and highly active JNK1. Correspondingly, neurons from JNK1−/−mice show lower constitutive activity and considerably higher responsiveness to stress. p38 activity can be completely inhibited without effect on c-Jun phosphorylation, whereas 10 μmSB203580 strongly inhibits neuronal JNK2/3, stress-induced c-Jun phosphorylation, induced c-Jun activity, and neuronal death in response to trophic withdrawal stress. Neither constitutive JNK1 activity nor total neuronal JNK activity were significantly affected by this concentration of drug. Thus, neuronal stress selectively activates JNK2/3 in the presence of mechanisms maintaining constitutive JNK1 activity, and this JNK2/3 activity selectively targets c-Jun, which is isolated from constitutive JNK1 activity.
Measurement of exhaled nitric oxide in children, 2001

Measurement of fractional exhaled nitric oxide in exhaled air is an exciting innovative technique that gives new insights in to the pathophysiology of lung disease and asthma in particular, with many potential clinical applications. Careful standardisation of measurement techniques will facilitate the use of this new measurement in paediatric respiratory medicine; this Task Force was set up for this purpose. Methodologies, for use in all age groups, are already available and there are abundant questions relating to interpretation and application of fractional exhaled nitric oxide waiting to be addressed. Noninvasiveness and instantaneous results potentially make it a suitable monitoring instrument for use in children. Exhaled nitric oxide measurement has definitely found its way into clinical research in paediatric respiratory medicine. Evidence for clinically-useful applications is accumulating, and the merits of this new technique must now be demonstrated in larger studies, using standardised methodology in an appropriate setting.
Young Children's Projective Abilities: what can a monster see?

Abstract A series of four tasks was presented to 3‐7 year‐old children in order to investigate their understanding of the way in which an obstruction restricts a person's view of an array. The results indicated that children's ability to predict another person's line of sight and field of view develops significantly during this period. The responses of most 4‐7 year‐olds in a nonverbal hiding game were consistent with their verbal judgments about what another person could see, but 3‐year‐olds’ responses in the hiding game were much more sophisticated than could be expected from their performance on the verbal tasks. The possibility is raised that satisfactory performance in hiding games may not always depend on a child's first working out what a seeker can see.
Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.

OBJECTIVE Degenerative intervertebral disc disease is common; however, the importance of genetic factors is unknown. This study sought to determine the extent of genetic influences on disc degeneration by classic twin study methods using magnetic resonance imaging (MRI). METHODS We compared MRI features of degenerative disc disease in the cervical and lumbar spine of 172 monozygotic and 154 dizygotic twins (mean age 51.7 and 54.4, respectively) who were unselected for back pain or disc disease. An overall score for disc degeneration was calculated as the sum of the grades for disc height, bulge, osteophytosis, and signal intensity at each level. A "severe disease" score (excluding minor grades) and an "extent of disease" score (number of levels affected) were also calculated. RESULTS For the overall score, heritability was 74% (95% confidence interval [95% CI] 64-81%) at the lumbar spine and 73% (95% CI 64-80%) at the cervical spine. For "severe disease," heritability was 64% and 79% at the lumbar and cervical spine, respectively, and for "extent of disease," heritability was 63% and 63%, respectively. These results were adjusted for age, weight, height, smoking, occupational manual work, and exercise. Examination of individual features revealed that disc height and bulge were highly heritable at both sites, and osteophytes were heritable in the lumbar spine. CONCLUSION These results suggest an important genetic influence on variation in intervertebral disc degeneration. However, variation in disc signal is largely influenced by environmental factors shared by twins. The use of MRI scans to determine the phenotype in family and population studies should allow a better understanding of disease mechanisms and the identification of the genes involved.
“A small leak will sink a great ship”: hypoxia-inducible factor and group III pulmonary hypertension

Pulmonary hypertension complicating idiopathic pulmonary fibrosis, also known as secondary pulmonary hypertension, represents a major source of morbidity and mortality in affected patients. While the study of primary pulmonary arterial hypertension has yielded several therapies, the same is not true for the treatment of pulmonary hypertension secondary to pulmonary fibrosis. Recent studies have indicated an important role of hypoxia-inducible factor (HIF) – a regulatory protein that is vital in adaptation to hypoxic conditions – in the development of secondary pulmonary hypertension. HIF influences development of hypoxia-induced pulmonary hypertension through alteration in voltage-gated potassium channels and homeostatic calcium regulation, resulting in disruption of endothelial cell-cell communication, and eventual vascular remodeling. This article summarizes salient literature related to HIF and secondary pulmonary hypertension, in addition to proposing a final common pathway in known mechanistic pathways that result in endothelial barrier integrity loss – vascular “leak” – primarily through a shared endothelial-epithelial signaling protein family, CCN.
Gender differences in active labour market policy: The Swedish self‐employment programme

Purpose – One of the most successful labour market programmes in Sweden is a start‐up subsidy programme for job seekers registered at the public employment service. The purpose of this paper is to examine if there are gender differences in outcomes of this programme.Design/methodology/approach – The analysis compares the outcome for female participants of the start‐up programme with that of four other matched groups: male and female non‐participants, male non‐participants, female non‐participants, and male participants.Findings – The authors' results indicate that females entering the programme have a higher success rate than both female and male non‐participants; however, the impact is less in comparison with male than with female non‐participants. Compared to a matched sample of males in the start‐up scheme, female participants are less successful.Originality/value – The paper concludes is that it is essential to find evidence regarding which programmes work for which target groups and to find out why e.
New Faculty Members' Perceptions of the Academic Work Life

SUMMARY The conceptual framework for this study was met expectations. The theory of met expectations tells us that if a new employee comes to the position with a realistic understanding of what the position entails, he or she is more likely to be satisfied with the work. Satisfied employees are more likely to be better performers. The search is unequivocal. Unmet expectations lead to job dissatisfaction and job dissatisfaction leads to numerous organizational problems. The predominant theme that emerged from thee interviews was that the participants did not have a realistic understanding of what is expected of a faulty member, and therefore, their expectations were unmet.
Strategies for iron supplementation: oral versus intravenous.

Iron supplementation has become an integral part of the management of patients receiving epoetin therapy, and clinicians have found it necessary to learn how and when to use it to the best advantage. Three routes of administration for iron are available: oral, intramuscular, and intravenous. Oral iron has the advantage of being simple and cheap, but it is limited by side-effects, poor compliance, poor absorption, and low efficacy. Intravenous iron is the best means of guaranteeing delivery of readily available iron to the bone marrow, but it requires greater clinical supervision. The i.v. iron preparations vary widely in their degradation kinetics, bioavailability, side-effect profiles, and maximum dose for single administration. Iron dextran is hampered by a small but significant risk of anaphylaxis, whereas all i.v. iron preparations can induce "free iron" reactions if the circulating plasma transferrin is overloaded. Intravenous iron may be given in advance of epoetin therapy, as concomitant treatment to prevent the development of iron deficiency, as treatment of absolute or functional iron deficiency, or as adjuvant therapy to enhance the response to epoetin in iron-replete patients. Markers of iron status that may indicate a need for i.v. iron include a serum ferritin of less than 100 microg/liter, a transferrin saturation of less than 20%, and a percentage of hypochromic red cells more than 10%. Various regimens are available for giving i.v. iron: low-dose administration of 20 to 60 mg every dialysis session in hemodialysis patients, medium-dose administration of 100 to 400 mg, and high-dose administration of 500 to 1000 mg. Iron sodium gluconate can only be given as a low-dose regimen because of toxicity, whereas the only preparation suitable for high-dose administration is iron dextran. Although concerns have been raised regarding iron overload and long-term toxicity with i.v. iron therapy in terms of increased risk of infections, cardiovascular disease, and malignancy, there is little evidence to substantiate this in patients receiving epoetin. Care should be taken, however, to prevent the serum ferritin rising above 800 to 1000 microg/liter and the transferrin saturation above 50%. Provided this is done, the benefits of i.v. iron almost certainly outweigh the risks in terms of optimizing the response to epoetin therapy.
Emotional Reactions Mediate the Effect of Music Listening on Creative Thinking: Perspective of the Arousal-and-Mood Hypothesis

This study examined the effect of music listening on creative thinking through the lens of the arousal-and-mood hypothesis, which posits that emotional reactions (i.e., arousal and valence) mediate the effect of music listening on cognitive functioning. Participants were randomly assigned to three groups: a positive music group (n = 198), a negative music group (n = 195), and a control group (n = 191). Creative thinking and emotional reactions were assessed with the Test for Creative Thinking-Drawing Production and the Affect Grid, respectively. The results showed that both positively and negatively arousing music enhanced creative thinking. The results further revealed that arousal, regardless of valence, significantly mediated the music-creativity relationship. This study enriches the research on the arousal-and-mood hypothesis by (1) providing direct empirical testing on the mediating roles of emotional reactions; (2) including both positively and negatively arousing music in the study design; and (3) identifying that only arousal, and not valence, was a significant mediator in the music-creativity link.
Constrained clusters of gene expression profiles with pathological features

MOTIVATION Gene expression profiles should be useful in distinguishing variations in disease, since they reflect accurately the status of cells. The primary clustering of gene expression reveals the genotypes that are responsible for the proximity of members within each cluster, while further clustering elucidates the pathological features of the individual members of each cluster. However, since the first clustering process and the second classification step, in which the features are associated with clusters, are performed independently, the initial set of clusters may omit genes that are associated with pathologically meaningful features. Therefore, it is important to devise a way of identifying gene expression clusters that are associated with pathological features. RESULTS We present the novel technique of 'itemset constrained clustering' (IC-Clustering), which computes the optimal cluster that maximizes the interclass variance of gene expression between groups, which are divided according to the restriction that only divisions that can be expressed using common features are allowed. This constraint automatically labels each cluster with a set of pathological features which characterize that cluster. When applied to liver cancer datasets, IC-Clustering revealed informative gene expression clusters, which could be annotated with various pathological features, such as 'tumor' and 'man', or 'except tumor' and 'normal liver function'. In contrast, the k-means method overlooked these clusters.