Accurate diagnosis and assessment of growth in patients with orofacial clefting.
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Biomedical subjects
Publications and source records attributed to D W Day.
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We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.
The effect of low (0.08 microU g-1 body wt min-1) and high (0.16 microU g-1 body wt min-1) rates of vasopressin infusion on blood flow to normal liver tissue and to liver metastases derived from azoxymethane induced colorectal carcinomas was studied in 36 male Wistar rats. Portal venous flow was measured by electromagnetic flowmetry and blood flow to normal and metastatic liver tissue by the clearance of xenon-133 injected directly into the liver parenchyma or metastasis. The low rate of vasopressin infusion decreased portal venous flow but increased blood flow to normal and metastatic liver tissue while at the higher rate of infusion these effects were reversed. Hepatic artery ligation (HAL) immediately following a low rate of vasopressin infusion abolished the observed increase in blood flow to both normal liver tissue and metastases. HAL immediately following the higher rate of vasopressin infusion further reduced blood flow to metastases but did not further alter blood flow to normal liver tissue. HAL prior to the infusion of the vasoactive drug significantly reduced blood flow to metastatic liver tissue, increased portal venous flow and was without effect on blood flow to normal liver tissue. Following HAL, blood flow to metastatic liver tissue was not further altered by either the low or high rates of vasopressin infusion. However, blood flow to normal liver tissue after HAL was reduced by a low rate of infusion of vasopressin and increased by the higher rate of infusion. The results of this study indicate that blood flow to normal or metastatic liver tissue can be increased or decreased by differential rates of infusion of vasopressin. These observations may have important implications in the treatment of liver metastases in man where different rates of vasopressin infusion may potentiate the effects of hepatic artery ligation or cytotoxic therapy.
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The adenoma-carcinoma sequence refers to the development of malignant change in a precursor focal dysplastic polypoid lesion, the adenoma. In the intestinal tract of man this progression has been most clearly documented in the large bowel and although the evidence is largely circumstantial, it would appear that the majority of malignant tumours at this site arise in this way. By contrast this course is unusual in the stomach, the other major site of gut malignancy, where adenomas are uncommon. Small intestinal adenocarcinoma is rare but there is evidence that a significant proportion of these tumours develop from a precursor adenoma. In the large bowel, adenomas are very common lesions in those populations where there is a high incidence of colorectal cancer. The likelihood of malignancy developing in an adenoma is related to increasing size, a villous as opposed to a tubular growth pattern, and the severity of cytological and architectural abnormalities (dysplasia) of the epithelium.
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A patient is described with oesophageal ulceration due to herpes simplex virus type I. The endoscopic, light, electron microscopic, and immunohistochemical appearances are described and the literature of this under-diagnosed entity is reviewed.
It has been widely assumed that the activity of ulcerative colitis is related to differences in mucosal appearances seen at sigmoidoscopic examination. We have tested this assumption by making comparisons of the symptoms and clinical signs associated with three reproducible appearances of the rectal mucosa. By cross-tabulating 222 observations of each of 10 symptoms and signs with these sigmoidoscopic appearances it has been shown that the subdivision of hemorrhagic mucosae into those which bleed spontaneously and those which bleed only on light touching or scraping is meaningful clinically. Sigmoidoscopic appearances seemed to correlate better with clinical disease activity than histological assessment, even when quantitative, of mucosal biopsies. On the basis of this study, four variables have been suggested which, in addition to the sigmoidoscopic appearances, could form the basis of regular clinical assessment or scoring.
In a prospective necropsy study of the large bowel in 365 cases, the commonest polyp identified was the hyperplastic (metaplastic) variety, of which 86.1% of the total were located in the rectum. The other main type of polyp found, and of much greater importance because of its malignant potential, was the neoplastic adenoma. These were present, either singly or multiply, in 73 of 198 male cases (36.9%) and in 48 of 167 female cases (28.7%). Their prevalence and their tendency to be multiple rose with increasing age in both sexes. Most adenomas had a tubular growth pattern and 88.8% of these were under 1 cm in diameter. There was a fairly even distribution of adenomas throughout the large bowel but a higher proportion of adenomas over 1 cm in diameter occurred in the caecum, sigmoid colon, and rectum than at other sites. In the whole series nine adenocarcinomas were present, two of which were arising in adenomas.
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Rectal biopsies were examined from 22 patients with Salmonella infection of food-poisoning type and from seven patients with inflammatory bowel disease and coincidental Salmonella infection. In the former group the changes observed were mucosal oedema with acute inflammation of varying severity but with preservation of the crypt architecture. Crypt abscesses were present in a few cases but were usually localized in the crypt and mucus depletion only occurred with severe inflammation. These features are not specific and are similar to those seen in other types of infective colitis such as Shigella dysentery, gonococcal proctitis and amoebic colitis. In the majority of cases of infective colitis the appearances are usually sufficiently distinctive, however, to distinguish them from those seen in ulcerative colitis and Crohn's disease. The changes in the biopsies from the seven patients with coincidental Salmonella infection were in general those of the underlying idiopathic inflammatory bowel disease.
Oral disodium cromoglycate (200 mg qds) has been tested in 26 patients with ulcerative colitis that was resistant to medical treatment. In a double-blind crossover trial disodium cromoglycate and placebo were added to conventional treatment in random order, each for four weeks. There was no significant difference in therapeutic effect between disodium cromoglycate and placebo.
Measurements of urinary lysozyme were used to evaluate renal tubular integrity in 34 patients with cirrhosis or fulminant hepatic failure who had developed renal impairment. In 18 of the patients the lysozyme values were normal but in the remaining 16 were increased, supporting previous concepts that renal failure complicating hepatocellular disease may occur both without and with tubular necrosis. The lysozyme values were inversely related to the creatinine clearance, suggesting that the development of tubular necrosis may be determined by the level of renal perfusion. The validity of simpler laboratory tests often used to assess renal tubular integrity--namely, the urine sodium concentration, the urine:plasma osmolality ratio, and casts in the urine sediment--was evaluated by comparison with the lysozyme measurements. The urine sodium concentration was of most value and the findings in the sediment were of no value at all.
Evidence has been presented to show that most carcinomas of the large bowel develop in an adenoma, and that the life history of this sequence, although variable, probably takes on average 10 to 15 years. However, when the absolute numbers of adenomas and carcinomas are compared, it is apparent that the transition is uncommon. On a statistical analysis the malignant potential of adenomas is related to their size, growth pattern, and degree of epithelial atypia. If the adenoma-carcinoma sequence is the norm, then a study of these criteria in adenomas at different sites in the colon and rectum would resolve the disparity in published series between the distribution of adenomas and carcinomas.