תוצאת חיפוש

Muir-Torre Syndrome: Importance of Clinical Diagnosis and Genetic Investigation

Hana Strul, Paul Rozen, Tova Naiman, Ruth Shomrat

Gastroenterology Dept. and Genetics Institute, Tel Aviv Medical Center and Tel Aviv University

Muir-Torre syndrome is a relatively rare cutaneous manifestation of hereditary nonpolypous colorectal cancer (HNPCC). This autosomal dominant syndrome is characterized by a combination of sebaceous gland and malignant visceral tumors. The common sites of internal malignancies are the gastrointestinal tract and urinary system. It appears in early adult life and its clinical course is relatively slow.

In some families genetic diagnosis can identify asymptomatic carriers of the mutation. All first-degree relatives, especially mutation carriers, should be referred from the age of 20 years for routine follow-up and early treatment, as it has been proven to decrease morbidity and mortality.

We present a 51-year-old man with Muir-Torre syndrome diagnosed by the presence of multiple adenomas of sebaceous glands, colonic adenoma and adenocarcinoma of the duodenum. The family history was typical for HNPCC. A mutation in the hMSH2 gene on chromosome 2p was found in the patient and in several asymptomatic family members. The aim of this report is to increase awareness of this syndrome and emphasize the importance of referring patients and their families for clinical and genetic counseling and diagnosis.

Intestinal Transplantation: World Experience and Future Perspective

Eytan Mor, Moshe Rubin, Yaron Niv

Depts. of Transplantation, Surgery B and Gastroenterology Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva

Intestinal transplantation, which until recently has been considered an experimental procedure, is now undergoing considerable change and becoming a standard treatment for patient with intestinal failure. The major improvement in results is due to the introduction of new immunosuppressive agents that have led to significant reduction in acute rejection. Nevertheless, reduction in severe infectious complications, which are the main cause of mortality after transplant, as well as improved techniques for early diagnosis of rejection are needed before intestinal transplantation can be widely used.

We describe our experience in post-transplant follow-up of a woman, aged 32-years, who had undergone intestinal transplantation for short bowel syndrome after extensive bowel resection.

Iatrogenic Gallstone Ileus: A New Complication of Bouveret's Syndrome

Miguel Iuchtman, Amos Sternberg, Ricardo Alfici, Ehud Sternberg, Tzvi Fireman

Depts. of Surgery and Gastroenterology, Hillel Yaffe Medical Center, Hadera, and Rappaport Medical School, Haifa

Bouveret's syndrome involves gastric outlet obstruction caused by a gallstone in the duodenum. This type of gallstone ileus can be diagnosed and treated endoscopically. Endoscopic stone removal is especially indicated in poor risk patients. A dislodged impacted stone can migrate distally and cause small bowel mechanical obstruction. We report a 51-year-old woman who underwent endoscopic duodenal stone manipulation which resulted in small bowel obstruction.

Bowel-Lengthening in a Newborn with Short Bowel Syndrome

Schmuel Katz, Ilan Erez, Ita Litmanovitz, Ludwig Lazar, Arie Raz, Zipora Dolfin

Depts. of Pediatric Surgery, Neonatology and Pediatrics; Meir Hospital, Kfar Saba

Advances in parenteral nutrition and supportive therapy have led to improvement in survival of babies with short-bowel syndrome. Those whose intestinal mass is very unlikely to be adequate should have surgical therapy as soon as possible, before they develop the complications of long-term parenteral nutrition or significant enteritis.

We present a newborn with short-bowel syndrome due to prenatal midgut volvulus. At operation the remaining viable jejunum, 15 cm long, was anastomosed to the cecum. All feeding attempts failed, and the infant suffered from malabsorption. Calories and proteins had to be supplied by intravenous total parenteral nutrition.

At 3 months of age there was significant widening of the remaining bowel and Bianchi's bowel-lengthening procedure was performed. The postoperative course was uneventful and there was gradual improvement in intestinal absorptive capacity. The patient was weaned from parenteral nutrition at 3 years of age. Now, 2 years later, she eats a normal diet.

Ultrasonographic Imaging of Superior Sagittal Thrombosis

Ilan Shelef, Avi Cohen, Yehiel Barki

Depts. of Radiology and Neurosurgery, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Ultrasonographic findings of superior sagittal sinus thrombosis include dilated and hyperechoic sinus (direct imaging of the thrombus). No flow should be demonstrated by the various Doppler techniques. In the deeper sinuses, if the thrombus can not be visualized after a negative Doppler study, MR imaging is recommended. Recanalization and reflow can be demonstrated on follow-up study.

Is Ileostomy Necessary In Surgical Treatment of Ulcerative Colitis and Familial Polyposis?

Michael M. Krausz, Simon Daniel Duek

Dept. of Surgery A, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, The Technion, Haifa

Proctolectomy with ileal pouch anal anastomosis (IPAA) has become the procedure of choice for the surgical treatment of ulcerative colitis (UC) and familial polyposis (FP). Ithas traditionally been performed in 2 stages, but recently the necessity for an ileostomy hbeen challenged by several authors who recommend a 1-stage procedure.

5 years ago we started to test this policy for treatment of UC and FP. In 48 patients (Group A), 45 with UC, the 2-step procedure, and in 17 of the 27 in Group B with FP, the 1-stage procedure were performed. The indications for surgery were intractable UC in 37 patients in group A and in 5 patients in Group B (p<0.01).

Postoperative infection due to bowel leakage developed in 2 in Group A and in 6 in Group B (p<0.01). Reoperation was necessary in 4 patients (15%) in Group B and only 1 (0.9%) in Group A (p<0.01). Bowel leakage in Group B occurred in 5 (19%) with UC and in only 1 with FP (p<0.05), which responded to medical treatment. All those with UC who developed this complication were relatively malnourished, with serum albumin levels lower than 3.0 g% and were regulated with corticosteroids.

We therefore conclude that the 2-stage IPAA is feasible and safe for the treatment of UC and FP. The 1-stage IPAA should be limited only to FP or good risk UC patients.

Acute Gastroenteritis caused by Enterohemorrhagic E. Coli O157:H7

Tuvia Weinberger, Tony Hayek, Shlomo Keidar

Dept. of Medicine E, Rambam Medical Center, and Dept. of Family Care, Haifa and West Galilee, and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

We report a 48-year-old man admitted for watery diarrhea, high fever, chills and abdominal cramps. Entero-hemorrhagic E. coli O157:H7 was isolated. This new, dangerous pathogen causes dysentery and complications such as hemolytic uremic syndrome and thrombotic thrombo-cytopenic purpura. These complications can cause renal failure, neurological deficit and death. Recognition of E. coli O157:H7 infection is important since it causes a rare and dangerous condition. To the best of our knowledge this is the first case reported in Israel.

Management of Malignant Bowel Obstruction in Home Care

Menahem Sasson, Pesach Shvartzman

Dept. of Family Medicine, Kupat Holim Klalit and Ben-Gurion University of the Negev, Beer Sheba

Malignant bowel obstruction occurs in about 10% of those with advanced abdominal cancer and in about 25% of those with advanced pelvic cancer. Such patients usually develop nausea, vomiting, constipation, abdominal dilatation and colicky pain. Traditional therapy consists of intravenous fluids and decompression by duodenal tube, gastrostomy or operation but postoperative mortality is high. Treatment requires hospitalization and therefor such patients have not been considered candidates for home care.

Palliative medical techniques can cope with this syndrome and allow home care. Hypodermoclysis, non-prokinetic anti-emetics like haloperidol and scopolamine, octeotride, corticosteroids, and narcotics for severe abdominal pain can alleviate symptoms. Medications can be combined and infused subcutaneously in a syringe driver and patients can remain with their families in their natural environment. Such techniques can give these patients who have short life expectancies reasonable quality of life.

Stromal Uterine Sarcoma arising from Intestinal Endometriosis after Abdominal Hysterectomy and Salpingoophorectomy

Munir Bishara, Eitan Scapa

Institute of Gastroenterology, Hepatology and Nutrition, Assaf Harofeh Medical Center, Zerifin (Affiliated with the Sackler Faculty of Medicine, Tel Aviv University)

The incidence of ectopic endometriosis is 4% to 18%. The intestinal type is quite common with the rectosigmoid the most likely part of the bowel to be involved due to its pelvic location. A 43-year-old woman, whose symptoms, X-ray and endoscopic findings suggested malignancy of the rectosigmoid, is presented. Primary malignancy of the bowel was excluded by endoscopic biopsies. Histological examination at operation showed stromal sarcoma of the uterus with foci of endometriosis. There is no report in the English literature of transformation of intestinal endometriosis into malignancy, such as stromal sarcoma of the uterus, which imitates a primary malignancy with obstruction of the rectosigmoid.

Gram-Negative Enteric Bacteremia in Children in the Negev

Michal Maimon-Greenwald, Eugene Leibovitz, Nimrod Maimon, Nechama Peled, Ron Dagan

Pediatric Infectious Disease Unit and Clinical Microbiology Laboratory, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

During 1989-1994, there were 322 episodes of Gram-negative enteric bacteremia in 308 children. The incidence increased from 31/100,000 in children younger than 15 years of age during 1989-1991, to 50/100,000 during 1992-1994. The most common pathogens were Klebsiella, E. Coli, Salmonella and Enterobacter. 39% of episodes were nosocomial and a significant increase was recorded for each species during the last 3 years of the study. Klebsiella represented the most common pathogen causing nosocomial bacteremia, while E. coli and Salmonella were the main pathogens causing community-acquired bacteremia. In this study in southern Israel, the incidence of Gram-negative enteric bacteremia was significantly higher in Bedouin children, with the exception of bacteremia due to Salmonella, which occurred mainly in Jewish children.

Gastrointestinal Angiodysplasia

D. Zamir, C. Zinger, J. Jarchovski, Z. Fireman, R. Magadle, L. Zelikovski, G. Bartal, P. Weiner

Depts. of Medicine A and B, and Gastroenterology and Nuclear Institutes, Hillel Yaffe Medical Center, Hadera

Gastrointestinal angiodysplasia is a cause of gastrointestinal bleeding in the elderly, for which surgery has been the only treatment. Estrogen has been reported beneficial in some cases in the past decade. Recurrent bleeding due to angiodysplasia occurred from the small intestine in a 75-year-old woman, and from the right colon in a 91-year-old man. The diagnoses were made by angiography in the first case and colonoscopy and erythrocyte- scanning in the second. There was aortic stenosis in both, a combination which has been reported in other cases. Both patients improved with estrogen therapy. However, after temporary stabilization, gastrointestinal bleeding recurred in the second patient and he was successfully operated on.

Gastrografin for Mechanical Partial, Small Bowel Obstruction due to Adhesions

A. Assalia, D. Kopelman, H. Bahous, Y. Klein, M. Hashmonai

Dept. of Surgery B, Rambam Medical Center and Technion-Israel Institute of Technology, Faculty of Medicine, Haifa

The therapeutic effect of astrografin is occasionally mentioned in the literature. However, this effect has not been objectively evaluated. We studied prospectively the effect of Gastrografin in cases of adhesive, simple, partial, small bowel obstruction (SBO) compared to conventional management. During 3 years, a total of 137 episodes of simple, partial SBO in 127 patients (10 recurrent episodes) were treated. The episodes were randomized into a control group(80 episodes) treated conventionally, and a trial group (77 episodes), which received in addition 100 ml of Gastrografin administered through the nasogastric tube. The two groups were well-matched with regard to age, gender, weight, medical and surgical background and duration of complaints before admission. Time to first stool and resolution of obstruction, complications, need for surgery, and hospital stay were noted. Mean time to first stool was significantly shorter in the trial group: 6.2±3.9 hours vs 23.5±12.7 (p<.0001). Mean hospital stay for unoperated patients was also shorter in the trial group: 2.7±2 days vs 5.5±2 days, (p<.0001). In addition, significantly fewer episodes in the trial group required operation, 10.4 vs 26.7% (p<0.013). 1 patient in each group died following operation. There were no Gastrografin-related complications and it was effective and safe for adhesive, partial, simple SBO. It significantly speeds resolution of obstruction, reduces the need for operation, and shortens convalescence.