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S Bülow

Publications and source records attributed to S Bülow.

At least 19 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

[Hereditary non-polyposis colorectal cancer].

Hereditary non-polyposis colorectal cancer (HNPCC) probably constitutes 5% of all the cases of sporadic colorectal cancer. At present, the diagnosis can only be established on the basis of a family history which should fulfill the "Amsterdam criteria": 1) Colorectal cancer in at least three family members, 2) One family member must be a close relative of the other two, and 3) The diagnosis must have been established prior to the age of 50 years in at least one relative. Other forms of cancer also occur in the HNPCC syndrome, particularly endometrial cancer. The syndrome has a dominant inheritance and, therefore, all close relatives should be submitted to control examinations for the most important forms of cancer associated with the syndrome.

Adult

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

[Occurrence of colorectal cancer among parents of patients with this disease].

In order to investigate the influence of a possible genetic factor on the development of colorectal cancer (KRC), a cohort investigation was carried out among parents of patients with KRC. A total of 1,542 patients participated in the investigation. These patients were under the age of 60 years and registered in The Danish Cancer Register as cases of KRC during the period 1982-1984. 96% of the parents of these patients were identified by means of the administrative registers. The parents were then sought in The Danish Cancer Register for cancer during the period 1943-1986. The incidence rates for the Danish population were employed to calculate anticipated number of cases of KRC among these parents. significantly increased frequencies of KRC were found among both the mothers and the fathers, as the standardised incidence ratio was 1.62 in mothers and 1.87 among fathers. As a Danish investigation of spouses of patients with KRC has not demonstrated any increased frequency of KRC among spouses, it is concluded that this finding indicates a possible genetic factor in the etiology of KRC.

Adult

[Metachronous colorectal cancer].

The occurrence of metachronous colo-rectal cancer was investigated in 903 patients under the age of 40 years at the time of diagnosis of the primary cancer. A constant frequency of metachronous colo-rectal cancers was found and a cumulated incidence of 30% after an observation period of 41 years. Metachronous cancer of the colon was encountered most frequently in the right half of the colon regardless of the site of the primary cancer. On the basis of the above mentioned results, a life-long follow-up programme is recommended, consisting of regular examination for blood in the faeces and colonoscopy.

Adenocarcinoma

Cancer incidence among parents of patients with colorectal cancer.

To investigate the genetic factor in the development of colorectal cancer, a cohort study was undertaken of parents of patients with this disease. All 1,524 patients, who were diagnosed with colorectal cancer in Denmark in 1982-84 and were below the age of 60 years, were selected from the National Cancer Register. The parents of these patients were identified from the public population registers. The index persons had a total of 1,478 eligible mothers, of whom 96% were successfully traced, and a total of 1,414 eligible fathers, of whom 96% were traced. These parents were sought in the Cancer Register for cancer cases diagnosed in the period January 1, 1943 to December 31, 1986. The incidence rates for the Danish population were used to estimate the expected numbers of colorectal cancer cases among the parents. Both the mothers and the fathers exhibited an increased risk of colorectal cancer. The standardized incidence ratios were 1.62 (95% CI 1.31-2.01) and 1.87 (95% CI 1.54-2.27), respectively. In a previous study we found that spouses of patients with colorectal cancer in Denmark did not have an increased risk of this disease. The increased risk found in the present study among the parents of patients therefore indicates that a possible genetic factor is present in the aetiology of colorectal cancer, and that it is of importance in the general population.

Aged

[Coloanal reservoir in low rectal cancer].

On the basis of a case history a method of treating low rectal cancer is presented. The method includes resection of the rectum and mucosal protectomy with establishment of a colo-anal reservoir.

Adenocarcinoma

Metachronous colorectal cancer in young patients: expression of the hereditary nonpolyposis colorectal cancer syndrome?

The cumulative incidence rate of metachronous colorectal cancer in patients younger than 40 years of age at diagnosis of the primary cancer has been shown to be 30 percent. Metachronous colorectal cancer is predominantly located in the right colon with a decreasing frequency toward the rectum. The risk of developing a metachronous colorectal cancer was found to be 16-29 times increased when compared with the risk of having a primary colorectal cancer. Because of the resemblance between characteristics of metachronous colorectal cancer and the features of hereditary nonpolyposis colorectal cancer (HNPCC), it is proposed that young colorectal cancer patients developing metachronous colorectal cancer could in fact be HNPCC patients.

Adolescent

Contaminated fistula following J-pouch ileoanal reservoir. Treatment with a collagen sponge containing gentamicin and metronidazole. Case report.

In a 55-year-old woman, a 1 x 5 cm fistula developed in the ileoanal anastomosis after restorative proctocolectomy with J-pouch ileoanal reservoir and temporary ileostomy for intractable ulcerative colitis. The fistula extended between the pouch and the sacral bone. Lasting closure was achieved by intrafistular placement of a collagen sponge containing gentamicin and soaked in metronidazole solution and pouch drainage through a transanal Foley catheter.

Anal Canal

Correlation between in vitro tetraploidy in skin fibroblasts and development of sporadic colorectal carcinomas.

In vitro tetraploidy (IVT) in skin fibroblasts cultures measured by flow cytometry was compared with histological type and degree of dysplasia in 22 patients with adenomas of the colon and rectum. Furthermore, IVT was compared with stage and differentiation in 36 patients with carcinoma of the colon and rectum. In vitro tetraploidy in skin fibroblasts was correlated to type as well as dysplasia in adenomas and differentiation in carcinomas but was not correlated to Dukes' stage in carcinomas. Skin fibroblast genetic instability, expressed as increased IVT (IVT+), has been reported to reflect a genetic predisposition to colorectal cancer in the hereditary nonpolyposis colorectal cancer syndrome. Because IVT+, which appears to be associated with the progression of adenomas to carcinomas, also is found in many of the non-syndrome colorectal cancers, we suggest that development of colorectal cancer is considerably influenced by the constitutive genetic instability of the autosomal dominant colorectal cancer syndromes.

Adenoma

[Proctoscopic versus histologic diagnosis of rectal polyps].

On the basis of the endoscopic appearance, 71 rectal polyps were assessed as adenomata or non-neoplastic polyps, after which the endoscopic diagnosis was compared with the results of histological examination. The diagnosis based on macroscopic examination of the polyps proved correct in only 62% of the cases. It is concluded that the diagnosis of adenoma cannot be established solely on the proctoscopic appearance of a polyp and, as adenomata are premalignant, removal of all polyps found at proctoscopy is recommended.

Adenoma

[Familial adenomatous polyposis].

Familial adenomatous polyposis is a dominant hereditary disease which includes early development of up to several thousand colorectal adenomas and subsequent development of colorectal adenocarcinoma in all of the untreated cases. In addition, various extracolonic manifestations may be observed. These include epidermoid cysts, osteomas, desmoids and gastroduodenal polyps. Conventional proctosigmoidoscopy is employed as the primary diagnostic method as all of the patients have rectal adenomata. Thereafter colonoscopic examination is undertaken and gastroduodenoscopy is performed on account of the risk of development of duodenal adenomas. Treatment consists of prophylactic colectomy at about the age of 15 years. An ileorectal anastomosis is most frequently made but construction of an ileoanal reservoir may be considered in selected cases. Regular prophylactic control examinations of first degree relatives of affected family members should commence at the age of ten years. Recent demonstration of a specific gene for polyposis on chromosome 5 will, together with demonstration of retinal pigmentation permit early preclinical diagnosis in future. Establishment of the Polyposis Register has resulted in earlier tracing and treatment of the condition and an improved prognosis.

Adenomatous Polyposis Coli

Metachronous colorectal carcinoma.

During the period 1943-67, 903 Danish patients aged less than 40 years had colorectal carcinoma. The patients were followed up for up to 41 years and during this period 44 of 501 (9 per cent) operated on for cure developed a metachronous colorectal carcinoma. The cumulative risk of a metachronous colorectal carcinoma was 30 per cent after up to 41 years of observation. The occurrence of a metachronous colorectal carcinoma was evenly distributed in the observation period. The cumulative survival rate after operation for a metachronous colorectal carcinoma was 41 per cent after 20 years of observation. We propose a lifelong follow-up programme after resection of colorectal carcinoma for cure in this age group, including annual Hemoccult test and colonoscopy at 3-year intervals.

Adult

The first year with a J-pouch. A prospective evaluation.

Proctocolectomy and construction of a pelvic pouch with ileo-anal anastomosis is now an established method in the treatment of ulcerative colitis, but various procedures are still under evaluation. This series comprises 97 patients with a 20 cm long J-shaped pouch and a short rectal cuff of 2-5 cm, prospectively evaluated after 1, 3, 6 and 12 months. Eight patients had their pouch removed because of septic complications. All the remaining patients evacuate spontaneously, although around one third still use constipating agents after 1 year. The stooling frequency gradually diminished from 7 (4-15) per 24 h to 4 (2-6) after 12 months. Continence also gradually improved during this period. No patient was incontinent of faeces but 13% still experienced episodes of minor soiling after 12 months. The procedure has proved to be safe providing patients are carefully selected, and 90% achieve a satisfactory or acceptable functional result.

Adult

Fertility and pregnancy in women with familial adenomatous polyposis.

A questionnaire study was carried out among 58 Danish women with familial adenomatous polyposis concerning fertility, pregnancies, abortions and deliveries. Further data were obtained from obstetric records and general practitioners. The fertility and the course of the pregnancy of women with polyposis, frequency of miscarriages, legal abortions, mature and premature infants corresponds to the frequency among the obstetric population in Denmark. Of the 73 infants, eight (11%) were delivered by caesarean section. Of the 16 women who gave birth after an operation for familial adenomatous polyposis, 5 (31%) had a caesarean section. Of the seven infants who died, two had lethal congenital malformations and three infants were very premature.

Abortion, Legal

Gastrointestinal regulatory peptides in familial adenomatous polyposis.

The etiology of adenomas in the stomach and duodenum in patients with familial adenomatous polyposis (FAP) is unknown. In this study the plasma concentration of epidermal growth factor (EGF), and other gastrointestinal polypeptides with a possible trophic effect on the gastrointestinal mucosa, was unchanged before and after meal stimulation. In 3 of 7 patients an increased EGF immunoreactivity was found in duodenal adenomas. This study has not indicated that regulatory peptides are involved in development of duodenal polyps in FAP, but suggests further studies to determine the role of EGF in FAP.

Adenoma