We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60 000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.(7Med Genet 1998;35:558-565)

Thirty-six malignant polyps were identified that met the following criteria: well-differentiated adenocarcinoma and complete excision endoscopically. Location, type, size, distance of the cancer to the cautery mark, and lymphovascular involvement were analyzed to determine if they affected findings at surgery or risk of recurrent cancer. There were 20 patients and 21 polyps in the nonsurgical group, and 15 patients and polyps in the surgical group. One patient from each group had residual cancer after endoscopic removal of the polyp. The only factor that had an adverse effect on outcome was the distance of the cancer to the cautery mark (< 1 mm). Although rectal location was associated with the residual cancer, poor prognosis could have been predicted by the inadequate margins. This long-term follow-up (65 months average) study supports previous observations that an adequate margin is the most important factor in predicting the prognosis of endoscopically resected colorectal adenomas containing well-differentiated adenocarcinomas.

Adenocarcinomas of the pancreas were experimentally induced in rats after the implantation of 7,12-dimethylbenz[alpha]anthracene (DMBA). Rats were anesthetized with Nembutal, the pancreas was exposed, and a 2- to 3-mm incision was made in the "head" of the pancreas approximately 1 cm from the duodenum. Crystalline DMBA (2-3 mg) was implanted and the incision was closed with silk suture. Eight % of animals developed tumors in the pancreas from 119 to 363 days after implantation (mean, 194 days). Ten animals developed tumors in less than 180 days. The adenocarcinomas were invasive, metastasized, and had pronounced ductal cell characteristics. The light-microscopic morphology of these pancreatic tumors was presented.

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We induced pancreatic adenocarcinomas in Long-Evans rats by placing crystals, 2-3 mg, of 7,12-dimethylbenz[a]anthracene (DMBA) in a 2- to 3-mm incision in the "head" of the pancreas approximately 1 cm from the duodenum. The incisions were closed with one or two silk sutures. The animals were killed 4-10 months after DMBA implantation, and nodules were removed and routinely prepared for light and/or electron microscopic study. Histologic organization varied from normal, through areas of tubule-like structures, to sheets of pleomorphic tumor cells. Electron microscopic study of tumor cells revealed large electron-lucent nuclei that frequently had irregular outlines and prominent nucleoli. The predominant feature of the cytoplasm was abundant rough endoplasmic reticulum. Zymogen granules were rare. Adjacent cells sometimes were jointed by an apical junctional complex to form a lumen into which projected irregular microvilli. A basal lamina sometimes occurred at the bases of the tumor cells. The fine structural similarity of these tumor cells to acinar cells was noted.

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Lysozyme is a bacteriocidal enzyme which is a major stable secretory product of mononuclear phagocytes, including hepatic sinusoidal macrophages (HSM), and serves as a good marker for these cells. Patients with alcoholic liver disease (ALD) have decreased HSM function which is reflected in reduced clearance of microorganisms and endotoxin derived from the gut. The HSM population in 54 liver biopsies from patients with ALD was studied using immunoperoxidase staining of lysozyme and was compared with 15 histologically normal controls. In both groups lysozyme positive HSM were more numerous in periportal than perivenous parenchyma. In each zone there were significantly fewer positive HSM in cases of ALD than in controls, in alcoholic hepatitis than in ALD without hepatitis, and in cirrhosis than in ALD without cirrhosis. These findings suggest a decreased population of functionally active HSM in ALD which correlates with severity of liver damage. This might be due to decreased lysozyme content of the entire HSM population or to the existence of two populations, one positive and one negative for lysozyme. The observed decrease in HSM function explains many of the phenomena observed in ALD.