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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.
This essay explores the legacy and afterlife of François Macandal, a man who escaped enslavement on an eighteenth-century plantation in the French colony of Saint-Domingue. His fame as a poisoner and immortal rebel persist over time and space, reflecting transcaribbean associations of fetish making with spiritual and physical resistance on the plantation. Stories of Macandal and the fetish objects he crafted, also called macandals, continued to circulate in nineteenth-century Louisiana as one of many narratives of slave uprising and Revolution in the Americas. One example of the reach of Macandal’s story is the 1892 novel, Le Macandal: Épisode de l’Insurrection des Noirs à St. Domingue, published in New Orleans, Louisiana, by Marie-Joséphine Augustin. This work is part of a larger archive of how Macandal and his macandals shaped the literary realm. His story moves across genres arguing that Macandal is simultaneously the man, the fetish object, and the story in its many forms.
Social relationships can impact youths’ eating and physical activity behaviours; however, the best strategies for intervening in the social environment are unknown. The objectives of the present study were to provide in-depth information on the social roles that youths’ parents and friends play related to eating and physical activity behaviours and to explore the impact of other social relationships on youths’ eating and physical activity behaviours.
Convergent parallel mixed-methods design.
Low-income, African American, food desert neighbourhoods in Baltimore City, MD, USA.
Data were collected from 297 youths (53 % female, 91 % African American, mean age 12·3 (sd 1·5) years) using structured questionnaires and combined with in-depth interviews from thirty-eight youths (42 % female, 97 % African American, mean age 11·4 (sd 1·5) years) and ten parents (80 % female, 50 % single heads of house, 100 % African American).
Combined interpretation of the results found that parents and caregivers have multiple, dynamic roles influencing youths’ eating and physical activity behaviours, such as creating health-promoting rules, managing the home food environment and serving as a role model for physical activity. Other social relationships have specific, but limited roles. For example, friends served as partners for physical activity, aunts provided exposure to novel food experiences, and teachers and doctors provided information related to eating and physical activity.
Obesity prevention programmes should consider minority youths’ perceptions of social roles when designing interventions. Specifically, future research is needed to test the effectiveness of intervention strategies that enhance or expand the supportive roles played by social relationships.
Residential alternatives to standard psychiatric admissions are associated with shorter lengths of stay, but little is known about the impact on readmissions.
To explore readmissions, use of community mental health services and costs after discharge from alternative and standard services.
Data on use of hospital and community mental health services were collected from clinical records for participants in six alternative and six standard services for 12 months from the date of index admission.
After discharge, the mean number and length of readmissions, use of community mental health services and costs did not differ significantly between standard and alternative services. Cost of index admission and total 12-month cost per participant were significantly higher for standard services.
Shorter lengths of stay in residential alternatives are not associated with greater frequency or length of readmissions or greater use of community mental health services after discharge.
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