Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.

Anterior segment dysgenesis (ASD) encompasses a spectrum of ocular disorders affecting the structures of the anterior eye chamber. Mutations in several genes, involved in eye development, are implicated in this disorder. ASD is often accompanied by diverse multisystemic symptoms and another genetic cause, such as variants in genes encoding collagen type IV. Thus, a wide spectrum of phenotypes and underlying genetic diversity make fast and proper diagnosis challenging. Here, we used AMELIE, an automatic text mining tool that enriches data with the most up-to-date information from literature, and wANNOVAR, which is based on well-documented databases and incorporates variant filtering strategy to identify genetic variants responsible for severely-manifested ASD in a newborn child. This strategy, applied to trio sequencing data in compliance with ACMG 2015 guidelines, helped us find two compound heterozygous variants of the B3GLCT gene, of which c.660+1G>A (rs80338851) was previously associated with the phenotype of Peters plus syndrome (PPS), while the second, NM_194318.3:c.755delC (p.T252fs), in exon 9 of the same gene was noted for the first time. PPS, a very rare subtype of ASD, is a glycosylation disorder, where the dysfunctional B3GLCT gene product, O-fucose-specific ß-1,3-glucosyltransferase, is ineffective in providing a noncanonical quality control system for proper protein folding in cells. Our study expands the mutation spectrum of the B3GLCT gene related to PPS. We suggest that the implementation of automatic text mining tools in combination with careful variant filtering could help translate sequencing results into diagnosis, thus, considerably accelerating the diagnostic process and, thereby, improving patient management.

[The application of transversostomy in colorectal cancer surgery]. / Rola odbarczajacej transwersostomii w chirurgii raka jelita grubego.

UNLABELLED: Defunctioning stomas (ileostomy and transversostomy) are the most common methods of the decompression of distal digestive tract. The aim of this study was to assess the results of transverse loop colostomy in colorectal cancer patients. MATERIAL AND METHOD: Between 1998 and 2007, 119 patients with colorectal cancer underwent transversostomy. In 97 patients the colostomy was formed during the primary operation as a planned prevention from further complications (1st group) and in 22 previously operated patients due to postoperative complications as a second procedure (2nd group). RESULTS: In the study group, there were 2 deaths in the perioperative period due to the anastomosis leakage and the intraabdominal sepsis. Three patients required reconstructive operation because of the colostomy stenosis and further 3 due to colostomy prolapse. There were also several cases of superficial wound infection after termination of transversostomy. Almost 78 patients in total had the restoration of digestive tract continuity performed, prevalently from the 1st group. CONCLUSIONS: 1. In our opinion transversostomy is an effective solution for the proximal faecal diversion especially at high risk of anastomosis insufficiency or with present anastomosis leak. 2. In our study group, the incidence of complications (such as: chyme loss or dyselectrolytemia) in patients with performed transversostomy was low, thus we find it recommendable for the colon decompression.