Retinal Dystrophy Associated with Homozygous Variants in .

: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic Allele.

Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.

The Microenvironment in an Experimental Model of Acute Pancreatitis Can Modify the Formation of the Protein Corona of sEVs, with Implications on Their Biological Function.

A considerable number of the physiological functions of extracellular vesicles are conditioned by the protein corona attached to their surface. The composition of this corona is initially defined during their intracellular synthesis, but it can be subsequently modified by interactions with the microenvironment. Here, we evaluated how the corona of small extracellular vesicles exposed to the inflammatory environment generated in acute pancreatitis is modified and what functional changes occur as a result of these modifications.

Mindfulness in Surgical Training (MiST): A Modified Mindfulness Curriculum for Surgical Residents.

Objectives: Residents experience numerous work-related and personal stressors that make it difficult to focus in the operating room, negatively impacting learning and surgical performance. Mindfulness-based cognitive therapy decreases anxiety and improves memory and learning. This study aimed to create a feasible and desirable modified mindfulness curriculum for surgical residents.