Improving Genetic Prediction by Leveraging Genetic Correlations Among Human Diseases and Traits

Genomic prediction has the potential to contribute to precision medicine. However, to date, the utility of such predictors is limited due to low accuracy for most traits. Here theory and simulation study are used to demonstrate that widespread pleiotropy among phenotypes can be utilised to improve genomic risk prediction. We show how a genetic predictor can be created as a weighted index that combines published genome-wide association study (GWAS) summary statistics across many different traits. We apply this framework to predict risk of schizophrenia and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial heterogeneity in prediction accuracy increases across cohorts. For six additional phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging from 0.7 for height to 47 for type 2 diabetes, when using a multi-trait predictor that combines published summary statistics from multiple traits, as compared to a predictor based only on one trait. © 2018 The Author(s)

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Oesophageal rhabdomyoma

Extracardiac rhabdomyomas are rare benign tumours showing striated muscle differentiation. Seventy percent of these lesions occur in the head and neck region. The most common sites for these lesions are the larynx, pharynx, and the floor of the mouth. There has been only one previous report of a rhabdomyoma of the oesophagus; two further cases are described. Key Words: rhabdomyoma • oesophagu

Solid-state synthesis and characterisation of mesoporous zirconia with lamellar and wormhole-like mesostructures

Mesostructured zirconia with lamellar and wormhole-like mesostructure was synthesized using a solid-state reaction route. Ordered lamellar mesostructure is achieved at low OH–/Zr ratio; while high OH–/Zr ratio leads to less ordered wormhole-like mesostructure. The varying synthesis conditions result in different inorganic frameworks with amorphous (in lamellar mesostructure) or tetragonal phase pore walls with different thermal stability. The surface area and pore structure of zirconia prepared by this method can be tailored using simple synthesis parameters such as OH–/Zr ratio and crystallization temperature. High surface area up to 716 m2/g can be achieved in the lamellar structured zirconia. However, the wormhole- like structured zirconia possesses high thermal stability. The results strongly suggest that in solid-state synthesis system mesostructure formation still follows the supramolecular self-assembly mechanism. In such synthesis system, the lamellar and reverse hexagonal structure can be transformed at different OH–/Zr ratios in order to minimize the surface energy of the mesophases formed