National review of end-of-life care withdrawal guidelines for non-invasive advanced respiratory support using document analysis.

Objectives: This study aims to understand the breadth of practice around end-of-life withdrawal of non-invasive advanced respiratory support (encompassing both continuous positive airway pressure and non-invasive ventilation) by analysing NHS-published guidelines and guidance for clinicians. This study seeks validity in the guidelines through a confluence of findings and reassurance of practice despite having little to no high-quality research to inform the content of the guidelines. Ultimately, where discordance is found between guidelines, there will be a strong mandate for future research.

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Retinal degeneration 3 (RD3) is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells. Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degeneration in Leber Congenital Amaurosis 12 patients, the rd3 mice, and the rcd2 collies. Recent studies have shown that RD3 interacts with guanylate cyclases GC1 and GC2 in retinal cell extracts and HEK293 cells co-expressing GC and RD3.