Publications by authors named "M W O'Boyle"
Article Synopsis
- Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder linked to deletions of the 22q13 region, particularly affecting the SHANK3 gene, leading to various developmental challenges like intellectual disabilities and autism.
- Researchers conducted a study using the PMS International Registry to analyze clinical and genetic data from 401 individuals to understand how the size of deletions affects their clinical features.
- Findings revealed that larger deletions were associated with more severe developmental delays and physical issues, while individuals with smaller deletions or specific SHANK3 variants tended to show better self-help and verbal skills along with various psychiatric diagnoses.
Article Synopsis
- Huge amounts of sewage sludge are a problem because they can pollute the environment and produce greenhouse gases.
- The study looked at mixing sewage sludge with other plant waste to create biofuels and biochar, which could be profitable.
- They found that co-pyrolyzing with sawdust gave the best results, making it a better way to handle sludge than the usual methods.
Emerging roles and opportunities for rare disease patient advocacy groups.
Ther Adv Rare Dis
April 2023
Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community. Motivated by patient need, PAGs are increasingly at the forefront of policy, research, and drug development for their disease of interest.
Objectives: The study explored the current landscape of PAGs in order to guide new and existing PAGs on available resources and challenges to research engagement.
Dramatic reductions in solar, wind, and battery storage costs create new opportunities to reduce emissions and costs in China's electricity sector, beyond current policy goals. This study examines the cost, reliability, emissions, public health, and employment implications of increasing the share of non-fossil fuel ("carbon free") electricity generation in China to 80% by 2035. The analysis uses state-of-the-art modeling with high resolution load, wind, and solar inputs.
View Article and Find Full Text PDFBackground: Mindfulness can improve overall well-being by training individuals to focus on the present moment without judging their thoughts. However, it is unknown how much mindfulness practice and training are necessary to improve well-being.
Objective: The primary aim of this study was to determine whether a standard 8-session web-based mindfulness-based cognitive therapy (MBCT) program, compared with a brief 3-session mindfulness intervention, improved overall participant well-being.