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Biomedical subjects

O Edwards

Publications and source records attributed to O Edwards.

8 recordsLinked to original sources

Unilateral renal aplasia in X-linked Kallmann's syndrome.

Unilateral renal agenesis is an uncommon association with Kallmann's syndrome (KS) (hypogonadotrophic hypogonadism and olfactory defect). We have investigated affected individuals from six pedigrees: five with X-linked KS, and one with X-linked KS and X-linked ichthyosis (XLI). Seventeen affected individuals have had renal imaging performed, and six scans demonstrated only one kidney. In addition, two pedigrees had males who died in the neonatal period with bilateral renal agenesis. Only two of the four affected individuals in the family with X-linked KS and X-linked ichthyosis (Pedigree 6) showed unilateral renal agenesis, despite all four patients demonstrating an interstitial deletion within the short arm of the X-chromosome. These data indicate that unilateral renal agenesis is much commoner than previously suspected in patients with X-linked Kallmann's syndrome, but that it may have incomplete penetrance within a family.

Genetic Linkage↗

Adenosquamous carcinoma of the colon.

Two cases of primary adenosquamous carcinomas of the sigmoid colon and rectum are presented. Clinical features and pathologic findings of both primary and metastatic lesions are reported (including immunohistochemistry and electron microscopy). We emphasize that the presence of a metastatic squamous tumor in a patient with an unknown primary does not exclude the possibility of colonic carcinoma. Comparison with other reports in the American medical literature indicates that these are very aggressive tumors that may have a worse prognosis than the more common form of colonic adenocarcinoma. Furthermore, the squamous component, in particular, may have a greater potential for metastasizing and can do so as an undifferentiated-appearing carcinoma. In view of this, the authors suggest that very poorly differentiated areas within colonic adenocarcinomas should be very carefully evaluated by means of immunoperoxidase stains and/or electron microscopy in an attempt to identify squamous features.

Adenocarcinoma↗

Hydropic cell variant (clear cell variant) of Wilms' tumor.

We report an unusual clear cell tumor of the kidney in infancy. The presence in our patient of a discrete mass with foci of primitive nephroblastic cells indicates the neoplastic nature of the clear cells. We discuss its distinction from clear cell sarcomas and carcinomas, and we suggest that this lesion may be inadequately separated from pediatric renal carcinomas in the literature. We recommend the term hydropic cell variant as a less confusing and more accurate descriptive designation.

Adenocarcinoma↗

The treatment of obesity with a very-low-calorie liquid-formula diet: an inpatient/outpatient comparison using skimmed-milk protein as the chief protein source.

Fifty obese patients were givena 1.34 MJ (320 kcal) formula diet (containing 44 g/day carbohydrate, milk protein supplying 24--29 g protein/day in a total of 31 g/day, fat 2 g/day and the RDA of minerals and vitamins) for four to 12 weeks, either as inpatients (22) or outpatients (28). This regime was followed by a 3.35 MJ (800 kcal) conventional diet as outpatients. All but six outpatients completed the trial. Substantial weight losses were achieved in all patients with a total mean loss of 8.4 kg at four weeks and 11.0 kg at eight weeks. At four weeks the mean weight loss was 9.6 kg for inpatients and 7.2 kg for outpatients (P less than 0.05). There was no statistical difference in weight between the groups at eight weeks. Patients who continued on the 1.34 MJ formula diet for 12 weeks continued to lose weight but those on the 3.35 MJ conventional diet did not. Nitrogen-balance studies were carried out on the inpatients. During the first four weeks there was a small net loss of nitrogen (56 g, equivalent to 350 g protein) but equilibrium was achieved by the fifth or sixth week. There was no evidence of protein deficiency as judged by unchanged serum total protein, albumin, haemoglobin, RBC and PCV. Equilibrium between intake and excretion of sodium and potassium was also achieved throughout, and serum electrolytes were unchanged. A large number of other routine clinical and laboratory tests showed the treatment was safe. Serum bilirubin was elevated (18--48 per cent) and increased slightly above normal in two outpatients. Serum cholesterol was decreased by 21 per cent and triglycerides by 45 per cent after three weeks. Serum lipids in hyperlipaemic patients were normalised. It is concluded that the very-low-calorie formula diet provides a safe and very effective method of weight reduction, and the advantages of hospital compared with outpatient treatment are small.

Adolescent↗