An Observational Analysis of a Novel Digital Rectoscope.

Background: This is an analysis of the first 50 in-human uses of a novel digital rigid sigmoidoscope. The technology provides digital image capture, telemedicine capabilities, improved ergonomics, and the ability to biopsy under pneumorectum while maintaining the low cost of conventional rigid sigmoidoscopy. The primary outcome was adverse events, and the secondary outcome was diagnostic view.

The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.

Objective: To characterise the phenotypes associated with the p.A16V mutation of PRSS1.

Design: Clinical and epidemiological data were collected for any family in which a p.

Evaluation of the 4q32-34 locus in European familial pancreatic cancer.

Background: Familial pancreatic cancer (FPC) describes a group of families where the inheritance of pancreatic cancer is consistent with an autosomal-dominant mode of inheritance. The 4q32-34 region has been previously identified as a potential locus for FPC in a large American family.

Methods: The region was allelotyped in 231 individuals from 77 European families using nine microsatellite markers, and haplotyping was possible in 191 individuals from 41 families.

Trypsinogen mutations in pancreatic disorders.

There are multiple PRSS1 mutations described in hereditary pancreatitis but only a minority of these are clinically relevant. The two most frequent point mutations are in exon 2 (N29I) and exon3 (R122H), found in diverse racial populations. Both mutations result in early onset pancreatitis but the mechanism underlying this phenotype is unclear.

The inherited genetics of pancreatic cancer and prospects for secondary screening.

It is estimated that pancreatic cancer has a familial component in approximately 5-10% of cases. Some of these cases are part of a defined cancer syndrome with a known gene mutation but in the remaining the causative gene remains unknown. In recent years, a better understanding of the molecular events that occur in the progression model of pancreatic cancer has lead to the development of secondary screening programmes with the aim of identifying early precursor lesions or pre-invasive cancer at a stage amenable to curative resection.