Circular DNA intermediates in the generation of large human segmental duplications

Background: Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments. Results: Here we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus. Conclusions: This novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution

Central Retinal Artery Occlusion: Acute Management and Treatment

This review will seek to answer if advances in ophthalmic imaging and evolution of treatment modalities have shed further light on the epidemiology, pathophysiology, diagnosis, and acute management of acute CRAO. Imaging characteristics of acute CRAO have been further characterized with the use of fluorescein angiography, optical coherence tomography (OCT), OCT-angiography, and indocyanine-green angiography. Layer segmentation of OCT imaging has found inner retinal layer hyper-reflectivity to be a common finding in acute CRAO. Non-invasive therapies, fibrinolytic delivery, and surgical interventions for acute CRAO have been further evaluated as potential management tools. A large body of literature reports very inconsistent treatment success with a wide variety of modalities. Currently, there is no clear evidence supporting the use of fibrinolytics in acute CRAO. Large, multicenter, randomized control trials are necessary to elucidate the role of the various acute treatment options in the management of CRAO