De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Outcomes of Del Nido and hyperkalemic blood cardioplegia in adult cardiac surgery with prolonged aortic cross-clamp times★.

Background: The utility and uptake of Del Nido cardioplegia in adult cardiac surgery is rapidly increasing. Cases with prolonged aortic cross-clamp times necessitate multi-dosing however an understanding of safe ischaemic times and definitive guidelines in this domain are lacking. Therefore, this study aimed to assess the safety and efficacy of our DNC strategy by comparing post-operative troponin profiles and clinical outcomes between Del Nido and hyperkalaemic cardioplegia for cases with aortic cross-clamp times of greater than 90 min.

Immunoaffinity-enriched salivary small extracellular vesicles in periodontitis.

Aim: aliva extracellular vesicles (EVs) serve as a significant reservoir of biomarkers that may be of clinical use in disease diagnosis. Saliva, however, contains EVs of both host- and bacterial- origin. Identifying suitable EVs for disease diagnosis involves enriching host EVs and limiting non-host contamination with effective isolation methods.