Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Introduction: Structural variants (SVs) of the nebulin gene ( ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .

Perceived wildfire risk and past experiences with wildfire smoke influence public support for prescribed burning in the western conterminous United States.

Background: Prescribed burning is an important fuel management tool to prevent severe wildfires. There is a pressing need to increase its application to reduce dry fuels in the western United States, a region that has experienced many damaging wildfires. Public support for this practice is tempered by concern around smoke impacts and escape risks.

Lessons Learned from a Quality Improvement Initiative to Increase COVID-19 Vaccination in Hospitalized Children.

Introduction: Pediatric coronavirus disease 2019 (COVID-19) vaccination rates in the United States remain lower compared with adults. We aimed to (1) implement a quality improvement initiative to increase COVID-19 vaccination 2-fold in hospitalized patients 12-21 years of age from 4.7% during the baseline period (August 10, 2021-November 1, 2021) to 9.

Health assets among refugees in Australia: a systematic review.

Background: A health assets-based approach seeks to identify health-promoting or protective factors across multiple levels. Evidence of the health assets of refugees at the individual, family, and community levels in Australia is scarce. We aimed to synthesise current evidence from Australia to identify refugee health assets and explore how they influence health and well-being.

Optimum diagnostic pathway and pathologic confirmation rate of early stage lung cancer: Results from the VIOLET randomised controlled trial.

Background: Pathologic confirmation of lung cancer influences treatment selection for suspected early-stage lung cancer. High pre-treatment tissue confirmation rates are recommended. We sought to define management and outcomes of patients undergoing surgery for primary lung cancer in a UK multi-centre clinical trial.