Dyskeratosis congenita. Report of a large kindred.

This kindred includes six males with dyskeratosis congenita. It is the largest British pedigree so far reported and brings the total number of reported cases to fifty-nine. Our pedigree supports X-linked recessive inheritance and close linkage with the Xga locus was excluded. Three previously unreported complications are noted: Hodgkin's disease, adenocarcinoma of the pancreas and deafness. Normal chromosomal stability was found in three patients and immunological studies precluded an early universal defect in cell-mediated immunity.

Pyoderma gangrenosum and ulcerative colitis.

The relationship of pyoderma gangrenosum and ulcerative colitis remains uncertain. We investigating 14 patients with pyoderma gangrenosum by colonoscopy with multiple biopsies. Six patients had ulcerative colitis and all of these had disease affecting the whole colon. There were no correlations between exacerbations of the colitis and the onset or course of pyoderma gangrenosum. The remaining eight patients with pyoderma gangrenosum had no other disease and they were found to be significantly older than those patients with coexisting colitis (P less than 0.002).

Colonscopy for investigation of unexplained rectal bleeding.

215 colonsocopic examinations were performed on patients with rectal bleeding whose cause had not been determined by barium enema. The probable or definite source of the bleeding was diagnosed in 41% of cases. 13% had a carcinoma, 14% had one or more colonic polyps, 7% had previously unrecognised inflammatory bowel disease. The remainder had various other colonic conditions. The source of bleeding was twice as likely to be found by colonoscopy in patients presenting with frank rectal blood-loss as in those with occult blood. A carcinoma was found twice as often in those patients with diverticular disease as in those without this condition. A lesion was discovered in the majority of patients who had had two or more negative barium enemas. These results emphasise the importance of rectal bleeding as a symptom of colonic abnormality and the value of colonscopy in its investigation in patients where the results of radiology are negative.

Preparation of the large bowel for endoscopy.

After the use of a number of varied purgation regimens for precolonoscopy preparation of the bowel and use of X-Prep liquid for the purgation phase in 500 patients with a very high success rate and low side-effects, we have found that this preparation provides the best results, both for the patient and the endoscopist.

Polyposis in ulcerative colitis.

One hundred and fifty cases of ulcerative colitis were assessed by total colonoscopy with multiple biopsies. Inflammatory polyposis was found in 25 (17%) cases and six of these had a large (greater than 1-5 cm) solitary polyp which radiologically resembled carcinoma in four cases. Adenomatous polyps were discovered in four cases. Three carcinomas were found at endoscopy, of which two were entirely unsuspected. In all cases endoscopic polypectomy or surgical intervention was performed to establish the exact histological diagnosis.

Colonoscopy in management of colonic strictures.

A total of 160 strictures were examined in 154 patients with the fibreoptic colonoscope. When it was possible to make a pre-examination diagnosis colonoscopy proved it wrong in 52% of cases. Unnecessary laparotomy was probably avoided in over half this series. All strictures of the large bowel should be examined colonoscopially whenever possible before considering surgery.

Changes in monosaccharide content of mucous glycoproteins in ulcerative colitis.

Colonic mucus appears to consist of two glycoprotein fractions, one of which contains mannose, whereas the other is mannose-free. The mannose-containing fraction is significantly increased in ulcerative colitis.

Fibreoptic examination of the colon: a review of 255 cases.

The results of fibreendoscopy of the colon are described in 255 consecutive examinations. Of the examinations, 26.5% resulted in a diagnosis being made solely by endoscopy. This included 17 cases of carcinoma, 15 patients with polyps, and 25 patients with inflammatory bowel disease. The most common reason for referral was undiagnosed rectal bleeding (75 cases) and endoscopy alone was successful in diagnosing the probable or definitive source of bleeding in 50% of the cases referred. It is not yet clear, however, to what extent this figure may reflect the inadequacy of conventional radiology.A definitive radiological diagnosis was refuted in 11 patients and an unnecessary laparotomy avoided in seven of these. There is no doubt that fibreoptic colonoscopy increases diagnostic accuracy in large bowel disease and is especially helpful in cases where radiology is either negative or equivocal.

Operative colonoscopy.

In 12 patients with radiologically-proved lesions of the colon total retrograde fibreoptic colonoscopy was performed on the unopened bowel at laparotomy. Additional polyps were found in five patients, and in four of these the polyp was not readily palpable through the bowel wall. This procedure is indicated whenever there are reasonable grounds for suspecting the presence of multiple polypi.