A scalable variational inference approach for increased mixed-model association power.

The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration.

Improving transition of care from pediatric to adult endocrinology for adolescents with diabetes.

Introduction: Adolescence is a challenging time in a child's life and can be even more stressful for those with a chronic medical condition such as diabetes mellitus. Adolescents and young adults with type 1 and type 2 diabetes experience worsening glycemic levels as they enter adulthood. Data suggest that a formalized health care transition process and beginning transition preparation in early adolescence leads to better transition outcomes.

Hypocalcaemia owing to severe vitamin D deficiency in two children with autism spectrum disorder and food allergy.

Individuals with autism spectrum disorder (ASD) often exhibit limited food preferences and sensory sensitivity. Co-existing food allergies in this population can further limit their already restricted diets, increasing the risk of nutritional deficiencies. Two children with ASD and food allergies presented with non-specific symptoms and were found to have hypocalcaemia secondary to severe vitamin D deficiency.

Zebrafish reveal new roles for Fam83f in hatching and the DNA damage-mediated autophagic response.

The FAM83 (ily with sequence similarity ) family is highly conserved in vertebrates, but little is known of the functions of these proteins beyond their association with oncogenesis. Of the family, FAM83F is of particular interest because it is the only membrane-targeted FAM83 protein. When overexpressed, FAM83F activates the canonical Wnt signalling pathway and binds to and stabilizes p53; it therefore interacts with two pathways often dysregulated in disease.

Using Quality Improvement to Optimize Blood Product Utilization in a Pediatric Cardiac Catheterization Laboratory.

Packed red blood cells (PRBC) are frequently ordered for cardiac catheterization procedures, which increases resource utilization and patient charges. We applied the Plan-Do-Study-Act (PDSA) principle in order to optimize the ordering of PRBC for pediatric cardiac procedures and reducing charges. Our primary aim was to increase adherence to ordering guidelines to greater than 97%, with a global aim to reduce resource utilization.