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Anorexia nervosa (AN) is a psychiatric disorder with complex etiology, with a significant portion of disease risk imparted by genetics. Traditional genome-wide association studies (GWAS) produce principal evidence for the association of genetic variants with disease. Transcriptomic imputation (TI) allows for the translation of those variants into regulatory mechanisms, which can then be used to assess the functional outcome of genetically regulated gene expression (GReX) in a broader setting through the use of phenome-wide association studies (pheWASs) in large and diverse clinical biobank populations with electronic health record phenotypes.
Here, we applied TI using S-PrediXcan to translate the most recent PGC-ED AN GWAS findings into AN-GReX. For significant genes, we imputed AN-GReX in the Mount Sinai BioMe™ Biobank and performed pheWASs on over 2000 outcomes to test the clinical consequences of aberrant expression of these genes. We performed a secondary analysis to assess the impact of body mass index (BMI) and sex on AN-GReX clinical associations.
Our S-PrediXcan analysis identified 53 genes associated with AN, including what is, to our knowledge, the first-genetic association of AN with the major histocompatibility complex. AN-GReX was associated with autoimmune, metabolic, and gastrointestinal diagnoses in our biobank cohort, as well as measures of cholesterol, medications, substance use, and pain. Additionally, our analyses showed moderation of AN-GReX associations with measures of cholesterol and substance use by BMI, and moderation of AN-GReX associations with celiac disease by sex.
Our BMI-stratified results provide potential avenues of functional mechanism for AN-genes to investigate further.
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
This chapter looks at the production of data visualizations (dataviz) in newsrooms and audiences’ everyday engagements with them.
Keywords: data visualization, audience engagement, newsrooms, dataviz, storytelling, data publics
This chapter looks at both the production of data visualizations (henceforth “dataviz”) in newsrooms and audiences’ everyday engagements with dataviz, drawing on two separate research projects. The first is Seeing Data, which explored how people make sense of data visualizations, and the second is INDVIL, which explored dataviz as a semiotic, aesthetic and discursive resource in society. The chapter starts by summarizing the main findings of an INDVIL sub-project focusing on dataviz in the news, in which we found that dataviz are perceived in diverse ways and deployed for diverse purposes. It then summarizes our main findings from Seeing Data, where we also found great diversity, this time in how audiences make sense of dataviz. This diversity is important for the future work of both dataviz researchers and practitioners.
Data Visualization in Newsrooms: Trends and Challenges
How is data visualization being embedded into newsroom practice? What trends are emerging, and what challenges are arising? To answer these questions, in 2016 and 2017 we undertook 60 interviews in 26 newsrooms across six European countries: Norway (NO), Sweden (SE), Denmark (DK), Germany (DE), Switzerland (CH) and the United Kingdom (UK). Interviewees in mainstream, online news media organizations included editorial leaders, leaders of specialist data visualization teams, data journalists, visual journalists, graphic/data visualization designers and developers (although some didn't have job titles, a sign in itself that this is a rapidly emerging field). We present some highlights from our research here.
Changing Journalistic Storytelling
The growing use of data visualization within journalism means that there is a shift from writing as the main semiotic mode to data and visualization as central elements in journalistic storytelling. Many interviewees stated that data visualization is the driving force of a story, even when it is a simple graphic or diagram.
The reader stats tell us that when we insert a simple data visualization in a story, readers stay on the page a little longer. (SE)
Identification of genetic variants associated with eating disorders is underway. The Anorexia Nervosa Genetics Initiative, an initiative of the Klarman Family Foundation, has contributed to advancing the field, yielding a large-scale genome-wide association study published in Nature Genetics. Eight genetic variants significantly associated with anorexia nervosa were identified, along with patterns of genetic correlations that suggest both psychiatric and metabolic origins of this serious and life-threatening illness. This article details the role of Professor Nick Martin in contributing to this important collaboration.
The present study evaluated the effects of low salinity on the early larval development of Oreochromis niloticus, specifically histological damage to white muscle, morphology of the yolk-sac surface and trunk area, and molecular expression of apoptosis and cell proliferation biomarkers. Newly hatched larvae were submitted to four salinity treatments for a period of 48 or 72 h, in duplicate: (S0) freshwater, (S2) 2 g l−1, (S4) 4 g l−1, and (S6) 6 g l−1NaCl. Larval development was examined using histology, electron microscopy, enzyme-linked immunosorbent assay (ELISA), and morphometry. At the yolk-sac surface, larvae of S4 and S6 displayed alterations to the apical opening of chloride cells that may be related to osmotic expenditure caused by the increased salinity. Caspase-3 expression did not differ significantly among treatments, however significantly lower proliferating cell nuclear antigen (PCNA) expression (P < 0.05) suggested minor cell proliferation in larvae of S4 and S6 compared with S0 and S2. Furthermore, there was a significant reduction in both trunk area and percentage of normal white muscle fibres (WF) in larvae of S4 and S6. Vacuolated areas and myofibrils concentrated at the cell periphery and found in the white muscle from larvae exposed to saline environments suggested disturbance to muscle development. Oedema and mononuclear infiltrate were also observed in the white muscle of S4 and S6 larvae. Together these results indicated that treatments with 4 and 6 g l−1 NaCl may cause osmoregulation expenditure, morphological alterations to the yolk-sac surface and histological damage to skeletal muscle that negatively affected the early larval development of O. niloticus.
Studies involving clinically recruited samples show that genetic liability to schizophrenia overlaps with that for several psychiatric disorders including bipolar disorder, major depression and, in a population study, anxiety disorder and negative symptoms in adolescence.
We examined whether, at a population level, association between schizophrenia liability and anxiety disorders continues into adulthood, for specific anxiety disorders and as a group. We explored in an epidemiologically based cohort the nature of adult psychopathology sharing liability to schizophrenia.
Schizophrenia polygenic risk scores (PRSs) were calculated for 590 European-descent individuals from the Christchurch Health and Development Study. Logistic regression was used to examine associations between schizophrenia PRS and four anxiety disorders (social phobia, specific phobia, panic disorder and generalised anxiety disorder), schizophrenia/schizophreniform disorder, manic/hypomanic episode, alcohol dependence, major depression, and – using linear regression – total number of anxiety disorders. A novel population-level association with hypomania was tested in a UK birth cohort (Avon Longitudinal Study of Parents and Children).
Schizophrenia PRS was associated with total number of anxiety disorders and with generalised anxiety disorder and panic disorder. We show a novel population-level association between schizophrenia PRS and manic/hypomanic episode.
The relationship between schizophrenia liability and anxiety disorders is not restricted to psychopathology in adolescence but is present in adulthood and specifically linked to generalised anxiety disorder and panic disorder. We suggest that the association between schizophrenia liability and hypomanic/manic episodes found in clinical samples may not be due to bias.
Ice algae are a key component in polar marine food webs and have an active role in large-scale biogeochemical cycles. They remain extremely under-sampled due to the coarse nature of traditional point sampling methods compounded by the general logistical limitations of surveying in polar regions. This study provides a first assessment of hyperspectral imaging as an under-ice remote-sensing method to capture sea-ice algae biomass spatial variability at the ice/water interface. Ice-algal cultures were inoculated in a unique inverted sea-ice simulation tank at increasing concentrations over designated cylinder enclosures and sparsely across the ice/water interface. Hyperspectral images of the sea ice were acquired with a pushbroom sensor attaining 0.9 mm square pixel spatial resolution for three different spectral resolutions (1.7, 3.4, 6.7 nm). Image analysis revealed biomass distribution matching the inoculated chlorophyll a concentrations within each cylinder. While spectral resolutions >6 nm hindered biomass differentiation, 1.7 and 3.4 nm were able to resolve spatial variation in ice algal biomass implying a coherent sensor selection. The inverted ice tank provided a suitable sea-ice analogue platform for testing key parameters of the methodology. The results highlight the potential of hyperspectral imaging to capture sea-ice algal biomass variability at unprecedented scales in a non-invasive way.
In 2008 it became policy that all those on the care programme approach were assessed for sexual violence/abuse. The implementation of this policy was assessed 8 years on. The findings of a survey and data request to Health and Social Care Information Centre are disappointing. We argue that this important initiative needs to be reinvigorated.
Prenatal maternal depression and a multilocus genetic profile of two susceptibility genes implicated in the stress response were examined in an interaction model predicting negative emotionality in the first 3 years. In 179 mother–infant dyads from the Maternal Adversity, Vulnerability, and Neurodevelopment cohort, prenatal depression (Center for Epidemiologic Studies Depressions Scale) was assessed at 24 to 36 weeks. The multilocus genetic profile score consisted of the number of susceptibility alleles from the serotonin transporter linked polymorphic region gene (5-HTTLPR): no long-rs25531(A) (LA: short/short, short/long-rs25531(G) [LG], or LG/LG] vs. any LA) and the dopamine receptor D4 gene (six to eight repeats vs. two to five repeats). Negative emotionality was extracted from the Infant Behaviour Questionnaire—Revised at 3 and 6 months and the Early Child Behavior Questionnaire at 18 and 36 months. Mixed and confirmatory regression analyses indicated that prenatal depression and the multilocus genetic profile interacted to predict negative emotionality from 3 to 36 months. The results were characterized by a differential susceptibility model at 3 and 6 months and by a diathesis–stress model at 36 months.
In species that aggregate for reproduction, the social and fitness costs of movement between groups frequently lead to restricted exchange between breeding areas. We report on four individual humpback whales identified in both the Cape Verde Islands and Guadeloupe; locations separated by an ocean basin and >4000 km. This rate of exchange is rarely encountered between such geographically discrete breeding areas. Two individuals returned to the area where they were originally identified. In contrast, no individuals from the Cape Verde Islands were resighted to the much larger sample from the Dominican Republic, though the migratory distances from the feeding areas are comparable between these areas. The social factors driving the stark difference between groups that is observed here are not clear. Effective conservation requires an understanding of the extent and pattern of movement between population units. The findings presented here suggest that there may well be more than one behaviourally distinct group within the West Indies. More broadly, they argue that considerable caution is warranted in assumptions made regarding the number, boundaries and status of population units based solely on spatial separation or proximity.
We aimed to determine the frequency of qacA/B chlorhexidine tolerance genes and high-level mupirocin resistance among MRSA isolates before and after the introduction of a chlorhexidine (CHG) daily bathing intervention in a surgical intensive care unit (SICU).
Retrospective cohort study (2005–2012)
A large tertiary-care center
Patients admitted to SICU who had MRSA surveillance cultures of the anterior nares
A random sample of banked MRSA anterior nares isolates recovered during (2005) and after (2006–2012) implementation of a daily CHG bathing protocol was examined for qacA/B genes and high-level mupirocin resistance. Staphylococcal cassette chromosome mec (SCCmec) typing was also performed.
Of the 504 randomly selected isolates (63 per year), 36 (7.1%) were qacA/B positive (+) and 35 (6.9%) were mupirocin resistant. Of these, 184 (36.5%) isolates were SCCmec type IV. There was a significant trend for increasing qacA/B (P=.02; highest prevalence, 16.9% in 2009 and 2010) and SCCmec type IV (P<.001; highest prevalence, 52.4% in 2012) during the study period. qacA/B(+) MRSA isolates were more likely to be mupirocin resistant (9 of 36 [25%] qacA/B(+) vs 26 of 468 [5.6%] qacA/B(−); P=.003).
A long-term, daily CHG bathing protocol was associated with a change in the frequency of qacA/B genes in MRSA isolates recovered from the anterior nares over an 8-year period. This change in the frequency of qacA/B genes is most likely due to patients in those years being exposed in prior admissions. Future studies need to further evaluate the implications of universal CHG daily bathing on MRSA qacA/B genes among hospitalized patients.
Teacher Education in Times of Change offers a critical examination of teacher education policy in the UK and Ireland over the past three decades. Written by a research group from five countries, it makes international comparisons, and covers broader developments in professional learning, to place these key issues and lessons in a wider context.