We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.
Effective masking policies to prevent the spread of airborne infections depend on public access to masks with high filtration efficacy. However, poor face-fit is almost universally present in pleated multilayer disposable face masks, severely limiting both individual and community respiratory protection. We developed a set of simple mask modifications to mass-manufactured disposable masks, the most common type of mask used by the public, that dramatically improves both their personalized fit and performance in a low-cost and scalable manner. These modifications comprise a user-moldable full mask periphery wire, integrated earloop tension adjusters, and an inner flange to trap respiratory droplets. We demonstrate that these simple design changes improves quantitative fit factor by 320%, triples the level of protection against aerosolized droplets, and approaches the model efficacy of N95 respirators in preventing the community spread of COVID-19, for an estimated additional cost of less than 5 cents per mask with automated production.
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