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Biomedical subjects

S Bülow

Publications and source records attributed to S Bülow.

9 recordsLinked to original sources

[Preclinical and prenatal diagnosis of familial adenomatous polyposis].

In order to investigate the possibility of preclinical and prenatal genetic diagnosis of familial adenomatous polyposis (FAP) by means of DNA-systems and other markers, blood samples were collected from 246 persons in 29 families, including 90 with the clinical diagnosis FAP and 73 clinically unaffected first degree relatives (persons at risk). The material was studied with up to 4 DNA-marker systems located in the region around the disease gene. Among the first degree relatives eight (11%) had probably inherited the disease gene, while 31 persons (42%) in this risk group had probably not inherited the gene. It was not possible to evaluate the risk in the remaining 34 persons (47%). In 45 (85%) out of 53 persons under 40 years the DNA-systems were informative, so that it would be possible to offer the option of prenatal diagnosis. It is concluded that preclinical and possibly prenatal genetic diagnosis may be offered; but the current practice of prophylactic proctosigmoidoscopic surveillance should be maintained.

Adenomatous Polyposis Coli

Rectal cancer risk in patients treated for familial adenomatous polyposis. The Leeds Castle Polyposis Group.

Total colectomy with ileorectal anastomosis (IRA) in familial adenomatous polyposis (FAP) leaves patients at risk for rectal cancer. To assess this risk, the rectal cancer incidence in 297 patients with FAP undergoing IRA since 1951 was determined in the population-based registers of Denmark, Finland and Sweden. At the same time, detailed data on 50 patients with FAP and invasive rectal cancer were obtained from 11 international polyposis registries. The cumulative incidence of rectal cancer was 13.1 per cent at 25 years. The 5-year survival rate of patients with FAP developing rectal cancer was 71 per cent. Combining both studies, the risk of dying from rectal cancer after IRA was 2.0 per cent at 15 years of follow-up. These results justify IRA as primary treatment for most patients; restorative proctocolectomy is preferred for some subgroups. The high all-cause mortality rate observed in this relatively young population necessitates lifelong surveillance of patients with FAP.

Adenomatous Polyposis Coli

Reappraisal of surgery for suppurative cholecystitis.

Ninety-two patients with suppurative cholecystitis operated on as emergency cases were studied in retrospection. Obstructive cholangitis was seen in two, who eventually died. The mortality after cholecystectomy alone was related to the presence of stones in the common bile duct. The mortality after cholecystostomy alone was related to shock and septicemia, but not to the presence of common bile duct stones or obstructive cholangitis. It was concluded that suppurative cholecystitis with accompanying common bile duct stones should be treated with cholecystectomy and choledocholithotomy, because of the lower rate of reoperations and possibly lower mortality than after cholecystectomy alone; an exception should be made in patients with deterioration in clinical condition or patients in whom technical difficulties develop during the operation. These patients should be subjected to a cholecystostomy as the only emergency procedure.

Adolescent

The incidence of male hermaphroditism in girls with inguinal hernia.

The incidence of male hermaphroditism in girls with inguinal hernias is estimated to be 1.4 per cent. From 1961 to 1972, 340 girls were admitted to the Department of Surgery at St. Josephs Hospital for hernial repair. One hundred and two patients had menstruated prior to the follow-up study. Buccal smears from the remaining patients were examined for Y chromatin-positive cells. We observed a zero per cent rate of male hermaphroditism, which is not significantly different from the aforementioned frequency, p greater than 0.05. Large scale prospective studies must be available before any conclusion can be drawn as to whether or not determination of the genetic gender prior to hernial repair in girls should be conducted as a routine procedure.

Adolescent

Venous gangrene.

Venous gangrene is not a common disease. It develops as the extreme, irreversible phase of total thrombosis of the veins of an extremity. The literature is reviewed and 7 new cases are reported. Symptomatology, aetiology, pathogenesis and treatment are discussed. It is concluded that there is a significant causative relationship between malignant disease and venous gangrene.

Aged