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C Soravia

Publications and source records attributed to C Soravia.

34 records · Page 2Linked to original sources
PubMed1998

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). AAPC is recognized by the occurrence of <100 colonic adenomas and a later onset of colorectal cancer (age >40 years). The aim of this study was to assess genotype-phenotype correlations in AAPC families. By protein-truncation test (PTT) assay, the entire coding region of the APC gene was screened in affected individuals from 11 AAPC kindreds, and their phenotypic differences were examined. Five novel germ-line APC mutations were identified in seven kindreds. Mutations were located in three different regions of the APC gene: (1) at the 5' end spanning exons 4 and 5, (2) within exon 9, and (3) at the 3' distal end of the gene. Variability in the number of colorectal adenomas was most apparent in individuals with mutations in region 1, and upper-gastrointestinal manifestations were more severe in them. In individuals with mutations in either region 2 or region 3, the average number of adenomas tended to be lower than those in individuals with mutations in region 1, although age at diagnosis was similar. In all AAPC kindreds, a predominance of right-sided colorectal adenomas and rectal polyp sparing was observed. No desmoid tumors were found in these kindreds. Our data suggest that, in AAPC families, the location of the APC mutation may partially predict specific phenotypic expression. This should help in the design of tailored clinical-management protocols in this subset of FAP patients.

Adenomatous Polyposis Coli↗
PubMed1997

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects.

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are two syndromes of colorectal cancer predisposition, inherited in an autosomal dominant fashion. They account for about 1% and 5-7% of all colorectal cancer cases, respectively. FAP is caused by germline mutations of a tumour suppressor gene, the adenomatous polyposis coli (APC) gene, whereas HNPCC results from genetic alterations of the DNA mismatch repair genes. Clinical manifestations in FAP include colonic as well as extracolonic sites (duodenum, eye, dental, nervous or connective tissues). In FAP, prophylactic colectomy is required in all affected patients and regular endoscopic check-up of the upper gastrointestinal tract is necessary to detect malignant transformation of duodenal polyps; medical management of complex desmoid tumours is preferred rather than surgery. In HNPCC, there are extracolonic associated endometrial, gastric, small bowel or brain carcinomas. At present time, for HNPCC patients, only preventive measures such as regular colonoscopic or gynecologic examinations are recommended, since prophylactic colectomy or hysterectomy are not considered to be routine procedures.

Adenomatous Polyposis Coli↗
PubMed1995

Surgery for adult polycystic liver disease.

BACKGROUND: Occasionally patients with adult polycystic liver disease (APLD) have symptoms. For these patients surgery may represent a valuable therapeutic option to relieve symptoms. METHODS: From September 1977 to August 1993 at our institution, 10 women with APLD were examined and surgically treated. They underwent a partial hepatic resection together with cyst fenestration. The surgical outcome and long-term follow-up were retrospectively analyzed. RESULTS: Postoperative morbidity consisted of one case of pneumonia, and one case of acute pancreatitis with deep vein leg thrombosis. One patient died after acute Budd-Chiari syndrome developed as a result of liver collapse after fenestration of a posterior cyst. In the long term six of nine patients were symptom free. Late surgical complications included acute cholecystitis (one patient), small bowel obstruction (one), and incisional hernia (two). CONCLUSIONS: A combined surgical approach of hepatic resection and cyst fenestration has proved feasible for patients with highly symptomatic APLD. Extensive fenestration of posterior cysts should be avoided; transverse hepatic resection (frontal hepatectomy) up to the costal margin is proposed. This therapy provides good results at long-term follow-up.

Adult↗
PubMed1994

[Epidermoid carcinoma of the esophagus and Fanconi's anemia].

We report the case of a 36-year-old female with Fanconi's anemia who developed a squamous cell carcinoma of the esophagus which was treated by surgery. In the long term, Fanconi's anemia is associated with a high incidence of acute leukemia, liver tumors or squamous cell carcinomas of various organs. The high chromosome breakage of this disease is assumed to be a predisposing factor for malignant development. This elevated tumor incidence must be appreciated if early diagnosis and appropriate therapy are to be initiated.

Adult↗
PubMed1994

[Non occlusive mesenteric ischemia: a late complication of cardiogenic shock].

The case of a diabetic 62-year-old man with a past history of myocardial infarction, developing a cardial arrest followed by successful cardiopulmonary resuscitation, is reported. In the late clinical course, the patient displayed abdominal signs related to mesenteric ischaemia. The pathophysiology of non-occlusive mesenteric ischaemia is discussed. Risk factors such as diabetes, cardiovascular disease, hemodialysis, the use of digoxine or alpha-adrenergic drugs are listed. Non-occlusive mesenteric ischaemia is not an infrequent complication of cardiac failure in high risk patients.

Diabetic Ketoacidosis↗
PubMed1994

[Ileo-anal anastomosis in hemorrhagic-ulcerative rectocolitis and familial adenomatous polyposis: is it mandatory to perform resection of the endo-anal mucosa?].

The aim of this study was to assess the clinical outcome after ileal pouch-anal anastomosis with mucosectomy for ulcerative colitis and for familial adenomatous polyposis, and to characterize the histology of the stripped endoanal mucosa with particular reference to the ulcerative colitis activity, adenomatous polyps and dysplasia. Twenty-eight patients were operated, 16 for ulcerative colitis (group I) and 12 for familial adenomatous polyposis (group II). In group I, there were no intraoperative complications, but mucosectomy was tedious in 10 patients (62%) and the anastomosis was performed under some degree of tension in 10 patients (62%). In group II, there was a direct injury of the internal sphincter by a posterior tear during the mucosal stripping in one case. Mucosectomy was easy to perform in 8 patients (67%) and 10 anastomoses (84%) were performed under tension. In both groups, there were no postoperative complications related to the mucosectomy or to the anastomosis itself. Functional results were good, with a normal continence in 80% of ulcerative colitis patients and 92% of familial adenomatous polyposis patients. Review of histological sections of the stripped anal mucosa in group I showed chronic active ulcerative colitis in 8 patients (50%), chronic non-active ulcerative colitis in 4 (25%) and quiescent ulcerative colitis in 4 (25%). There was only one case of moderate dysplasia in a patient with a Dukes A carcinoma. In group II, anal mucosa showed micropolyps in all cases with mild dysplasia in 3 cases (25%) and moderate dysplasia in 9 (75%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adenomatous Polyposis Coli↗
PubMed1993

[Multiple tumors of colon and rectum].

The possible occurrence of multiple synchronous or metachronous malignant lesions in patients with carcinoma of the colon and rectum is a well known event. In this population-based study in the Geneva area from 1970 to 1986, the frequency of synchronous colorectal carcinomas was 1.1% and that of metachronous carcinomas 1%. The relative risk of metachronous colorectal carcinoma is higher than in the general population (colon after rectum 1.2, colon after colon 1.7 and rectum after rectum 1.4). A high association of adenomatous polyps with multiple colorectal carcinoma was observed. The 5-year actuarial survival in case of curative resection was 87% for metachronous carcinomas, 35% for single carcinomas and 33% for synchronous carcinomas. We conclude that complete preoperative colonoscopy, whenever possible, should be performed to screen patients with synchronous carcinomas. Finally, a lifelong follow-up of the residual colon or rectum should be planned to detect metachronous lesions.

Actuarial Analysis↗
PubMed1993

Group A beta-haemolytic streptococcus septicaemia: the toxic strep syndrome. Report of our cases developing septic shock and multiple organ failure.

During the last two decades, severe group A beta-haemolytic streptococcal infections have been defined as the "toxic strep syndrome", and have been reported not only in immunocompromised or elderly people, but also occasionally in previously healthy patients. We describe 4 patients presenting with the toxic strep syndrome, requiring surgery and intensive care, and briefly review the related literature. Fatigue, localized pain and other nonspecific symptoms were associated with the onset of the disease, followed by septic shock with multiple organ failure. Early diagnosis and surgical intervention, if necessary, are mandatory. Subsequently, appropriate supportive treatment of vital organ dysfunction and penicillin as the antibiotic of choice represent the cornerstones of the management of this syndrome.

Adult↗
PubMed1993

[Jejuno-jejunal invagination in polypoid lipoma producing renal failure].

This is the case of a 43 years old woman with recurring epigastric pain for 8 years. She was hospitalized emergently for persistent vomiting causing acute renal failure. Numerous radiologic investigations prior to this hospitalisation showed no pathology. The diagnosis was made this time with a small bowel follow through. Intussusception of tumors is a known cause of small bowel obstruction. The clinical picture however, of severe vomiting causing acute renal failure on the basis of a proximal small bowel obstruction is exceptional.

Acute Kidney Injury↗
PubMed1993

[Segmental ischemic colitis in lymphocytic thrombotic venulitis].

This case illustrates the difficulty of diagnosing a colonic stenosis of ischemic origin. A 70-year-old lady presents with abdominal pain, fever and melaena. Lc are 15.2, ESR 39 mm, CEA 2.7 ng/ml. A barium enema shows a stenosis of the transverse colon that is suspicious of neoplasia. At time of operation, an induration of the transverse colon is found with edema of the corresponding mesocolon but no tumour is palpated. A resection of this area is performed and an end to end anastomosis performed. Pathology shows an ischemic colitis secondary to a lymphocytic thrombotic venulitis. The patient is discharged home one month postoperatively. 4 weeks later she is readmitted with the same symptoms. A gastrograffin enema shows a similar stenosis in the transverse colon including the anastomosis. The diagnosis is made of a recurrent ischemic stenosis. The patient improves over a 10-day period of conservative treatment (anticoagulation, TPN, steroids). A control barium enema shows a near resolution of the stenosis. The majority of ischemic colitis are of arterial origin nevertheless ischemic colitis of venous origin exists. The factor causing venous ischemia are not known. It is though thought to be associated with hypersensitivity vasculitis of drug origin. Its initial diagnosis versus neoplasia is difficult but once made there is a good response to a conservative treatment.

Aged↗
PubMed1993

[Multiple tumors of the colon and rectum].

The possible occurrence of multiple synchronous or metachronous malignant lesions in patients with a carcinoma of the colon and rectum is a well known event. In this population-based study in the Geneva area from 1970 to 1986, the frequency of synchronous colorectal carcinomas was of 1.1% and that of metachronous carcinomas of 1%. The relative risk of metachronous colorectal carcinoma is higher than in the general population (colon after rectum 1.2, colon after colon 1.7 and rectum after rectum 1.4). A high association of adenomatous polyps with multiple colorectal carcinomas was observed. The 5-year actuarial survival in case of curative resection was of 87% for metachronous carcinomas, 35% for single carcinomas and 33% for synchronous carcinomas. We conclude that complete preoperative colonoscopy, whenever possible, should be performed to screen patients with synchronous carcinomas. Finally, a lifelong follow-up of the residual colon or rectum should be planned to detect metachronous lesions.

Aged↗
PubMed1992

Flushing technique in the management of retained common bile duct stones with a T tube in situ.

Over a 12-year-period, 6046 cholecystectomies and 918 common bile duct explorations were undertaken with 697 stone-positive choledochotomies (76 per cent). Forty patients (5.7 per cent) had retained common bile duct stones with a T tube in situ. Twenty-eight patients underwent flushing of the common bile duct with a continuous infusion of heparinized saline solution with parenteral aminophylline to induce relaxation of the sphincter of Oddi. Complete duct clearance was achieved in 17 patients; infusion was stopped in four patients and no deaths occurred. The use of percutaneous stone extraction (Burhenne's technique), gave an overall successful common bile duct clearance rate of 86 per cent. The flushing technique represents the first step in the non-operative management of retained common bile duct stones in patients with a T tube in place. It is a safe and effective method for use in the early postoperative period with a prolongation of hospital stay of not more than 1 week.

Adult↗
PubMed1992

Results of surgical palliation for cancer of the head of the pancreas and periampullary region.

Between 1977 and 1986, 101 patients underwent surgical bypass for periampullary carcinoma. The hospital mortality rate was 18 per cent and the morbidity rate 43 per cent. Mortality was not influenced by the extent of the tumour. Survival rates at 1,2 and 3 years were 28, 9 and 4 per cent, respectively. The median survival time was 17 months for localized tumours, 10 months for those that had invaded surrounding tissues, 6 months in the presence of lymph node involvement and 3 months with distant metastasis. The quality of survival was good for most patients with localized tumours but poor for those with parenchymal metastasis, in whom palliation was transient for 85 per cent and effective for less than half of their survival time for 60 per cent. These results suggest that patients with distant metastasis but without impending duodenal obstruction should undergo palliation by endoscopic or percutaneous routes while those with less advanced disease or with duodenal involvement remain candidates for surgical bypass.

Adenocarcinoma↗
PubMedDate not supplied

Management of advanced duodenal polyposis in familial adenomatous polyposis.

Patients with familial adenomatous polyposis (FAP) are at increased risk for the development of periampullary cancer. The aim of this study was to evaluate the roles of endoscopic and surgical therapy in the management of advanced duodenal polyposis in FAP. From 1990 to 1995, seventy-four FAP patients were enrolled in a prospective endoscopic surveillance protocol. Among these, 11 (14.8%) developed advanced duodenal polyposis and one had duodenal adenocarcinoma. Six patients underwent endoscopic resection of duodenal (n=5) or ampullary adenomas (n=1). The following operations were performed in the remaining six patients: ampullectomy in four, open polypectomy in one, and a Whipple procedure in one. There was one patient who died of acute pancreatitis following endoscopic ampullectomy. The patient with invasive duodenal cancer died of local recurrence. Small polyps were observed at the site of previous resection in all (9 of 9) patients undergoing repeat endoscopy during a mean follow-up of 18 months (range 4 to 34 months). An endoscopic and local surgical resectional approach to advanced duodenal polyposis in FAP is fraught with high recurrence rates, although recurrent polyps are small and may be amenable to retreatment in the future. Long-term follow-up is necessary to prove that deaths from duodenal or ampullary cancer are prevented with this strategy.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

Acute colonic complications after kidney transplantation.

Over a 30-year period (1963-1993), 12 patients out of 2091 renal allograft recipients (0.5%) were identified for an acute colonic complication. They were 7 males and 5 females with a mean age of 43 years. The mean elapsed time from transplantation to symptoms was 55 months. Peritonitis was diagnosed in all cases, requiring an emergency laparotomy in 6 patients (50%); delayed surgery was possible in 4 patients (33%) after failure of conservative treatment. One patient (9%) was operated electively later on while the last patient died before any surgery from sepsis after diffuse bowel ischaemia. Aetiology included complicated diverticulitis in 9 instances (75%), one colon perforation caused by faecal impaction, one cytomegalovirus colitis and one bowel ischaemia. Another patient died postoperatively after colon resection for perforated diverticulitis. The use of cyclosporine since 1985 did not reduce the incidence of colonic complication. In conclusion aggressive medical support and early surgical exploration are mandatory for renal recipients presenting with an acute colonic complication.

Abdomen, Acute↗