This article describes the work of a group of professionals in the United Kingdom known as the VIEW Braille Literacy Committee, committed to the development of teaching braille. Members meet each school term and have had the support of the Royal National Institute of the Blind (RNIB) in realizing numerous projects aimed at improving access to literacy for all those learning to read through touch. A description is given of some of the reading schemes designed by members of the group, of their underlying rationale, of the importance of pre-braille reading skills, of issues to do with motivation, and of the order of introducing braille short-forms and contractions.
The aim of this study was to characterize a large set of full segmental aneuploidies identified in trophectoderm (TE) biopsies and evaluate concordance in human blastocysts. Full segmental aneuploid errors were identified in TE biopsies (n=2,766) from preimplantation genetic testing for aneuploid (PGT-A) cycles. Full segmental deletions (n=1,872; 66.1%) presented twice as many times as duplications (n=939; 33.9%), mapped more often to the q-arm (n=1,696; 61.3%), than the p-arm (n=847; 31.0%), or both arms (n=223; 8.1%; P<0.05), and were 8 times more likely to include the distal end of a chromosome than not (P<0.05). Additionally, 37 recurring coordinates (each≥10 events) were discovered across 17 different chromosomes, which were also significantly enriched for distal regions (P=4.1x10−56). Blinded concordance analysis of 162 dissected blastocysts validated the original TE PGT-A full segmental result for a concordance of 96.3% (n=156); remaining dissected blastocysts were identified as mosaic (n=6; 3.7%). Origin of aneuploid analysis revealed full segmental aneuploid errors were mostly paternally derived (67%) in contrast to whole chromosome aneuploid errors (5.8% paternally derived). Errors from both parental gametes were observed in 6.5% of aneuploid embryos when multiple whole chromosomes were affected. The average number of recombination events was significantly less in paternally derived (1.81) compared to maternally derived (3.81) segmental aneuploidies (P<0.0001). In summary, full segmental aneuploidies were identified at hotspots across the genome and were highly concordant upon blinded analysis. Nevertheless, future studies assessing reproductive potential of full (non-mosaic) segmental aneuploid embryos are critical to rule out potential harmful reproductive risks.
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