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.

Percutaneous Closure of Patent Arterial Ducts with Occluding Spring Coils

Benjamin Zeevi, Galit Bar-Mor, Michael Berant

Cardiac Catheterization Unit, Schneider Children's Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University

In recent years percutaneous closure of small and medium- sized patent arterial ducts has been achieved using occluding spring coils. We describe our experience in 93 patients with this tec, using a snare to facilitate the procedure in most. All patients had a clinically apparenpatent arterial duct and had undergone attempts at transcatheter closure at a mean age of 6.8 years. In 1, the duct was a residual lesion following surgical ligation, and in 5 it was a residual following attempted closure with the Rashkind double-umbrella. The mean narrowest diameter of the ducts was 2.1 mm.

In our 93 patients implantation was successful in 92 (99%), using 1 coil (82 patients), or 2 (10 patients), and in 1 by a combination of a double-umbrella device and an occluding spring coil.

The mean fluoroscopic screening time for the whole group was 22.8 minutes, which decreased to 16.8 minutes in the last 50 patients. The coil embolized in 7 patients, but was retrieved in 6 and the ducts were subsequently occluded with another coil. In 1 patient the coil was left in a distal small branch of the left pulmonary artery and the duct was successfully occluded with a double-umbrella.

Color-Doppler echocardiogram performed the morning after placement of the coils showed residual leaks in 18%. At mean follow-up of 24.6 months repeat imaging showed residual leaks in only 3 of these patients (3%).

We conclude that occlusion of small to medium-sized ducts using coils appears to be effective and is the treatment of choice. The use of a snare to hold and manipulate the coil as it is delivered improves control of the coil, the accuracy of its placement, as well as giving complete occlusion of the ducts.

The Fate of Gallstones "Dropped" during Laparoscopy

Menashe Barzilai, Arie Bitterman, Dorit Schlag-Eisenberg, Nathan Peled

Depts. of Radiology and Surgery B, Carmel Medical Center, Haifa

Laparoscopic cholecystectomy is considered the procedure of choice for removing symptomatic, stone-containing gallbladders. It is estimated that in 30-40% of these operations stone(s) spill into the peritoneal cavity. It was assumed that these "dropped stones" are harmless and are dissolved and absorbed spontaneously. We present a 70-year-old woman in whom such a stone, dropped during laparoscopy, led to formation of an intraperitoneal abscess.

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.

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.

Multiple Angiodysplastic Lesions of the Colon - a Therapeutic Challenge

Nir Hilzenrat, Edit Liberty

Division of Gastroenterology and Dept. of Medicine E, Soroka Medical Center and Ben-Gurion University, Beer Sheba

Colonic angiodysplasia is one of the most frequent causes of recurrent lower gastrointestinal tract bleeding, mainly in the elderly. In 50% of patients multiple angiodysplastic lesions were reported when they were the cause of rectal bleeding. Bleeding from angiodysplasia is more severe and less responsive to treatment in those with coagulation disorders. A 74-year-old woman with an artificial mitral valve who was treated with coumadine is reported. A few years after operation she began to develop severe recurrent rectal bleeding because of multiple angiodysplastic lesions along the right colon, proven by colonoscopy. She was frequently hospitalized for blood transfusions; endoscopic treatment was not feasible and the surgical risk of colectomy was very high. Treatwith estrogen and progesterone significantly decreased recurrent episodes of bleeding.

Trichobezoars

M. Barzilai, N. Peled, M. Soudack, L. Siplovich

Carmel and Rambam Medical Centers, Haifa and Afula Medical Center 

Trichobezoars are accumulations of hair casts in the stomach associated with trichophagia. The typical patient is an adolescent female who presents with alopecia and an upper abdominal mass which on moving can cause intermittent gastric outlet obstruction. Only a minority of patients have severe psychiatric disorders. When hair strands extend from the main mass in the stomach, all along the small bowel and reaching the cecum, the condition is termed the Rapunzel syndrome. In about 5% of patients there are separate hair masses in the stomach. The clinical presentation includes abdominal pain, loss of appetite, weight-loss, vomiting, loose stools, pancreatitis, jaundice, anemia and hypoalbuminemia. These signs and symptoms raise the suspicion of malignancy. Complications of bezoars include ulcers, perforation of the bowel, obstruction and intussusception. Diagnosis can be established either by barium swallow or by CT scan. Ultrasound might suggest the diagnosis, but sonographic features are definitely not pathognomonic. Treatment is surgical, as endoscopic removal is usually unsuccessful. We present 2 children in whom trichobezoars were found.

Abnormal Liver Function Tests in the Primary Care Setting

Shlomo Vinker, Sasson Nakar, Emanuel Nir, Eitan Hyam, Michael A. Weingarten

Dept. of Family Medicine, Rabin Medical Center, Sackler Faculty of Medicine; Tel Aviv University; and General Sick Fund, Central District

Results of laboratory tests ordered during a primary care encounter may reveal findings of abnormal liver function tests, including elevated liver enzymes, hyperbilirubinemia, hypoalbuminemia or abnormal coagulation tests. The object of this study was to describe the spectrum of these liver function test (LFT) abnormalities in primary care.

Results of all laboratory tests ordered during 10 months in an urban primary care clinic were retrospectively reviewed and the medical charts of patients with abnormal LFTs were studied. In 217/1088 (20%) of the tests at least 1 LFT abnormality was found in 156 patients. New diagnoses were made in 104 patients. The main diagnostic groups were: non-alcoholic fatty liver changes, Gilbert's disease, acute infectious hepatitis, alcoholic liver disease and cirrhosis and hepatotoxic drug injury. In 60 patients the physician classified the abnormality as negligible and not associated with significant disease. However, an abnormal test that had been ordered for evaluation of a specific complaint, was indeed likely to represent significant disease (X²=29.5, p<0.001). We conclude that finding abnormalities in liver function tests is common in the primary care clinic but does not often indicate significant liver disease.

Leiomyosarcoma of the Stomach

I. Roisman, I. Lifshitz, O. Papo, Z. Kovach, A.Z. Reznick, A.L. Durst

Surgical Dept. A, Rambam Medical Center, Haifa; Depts. of Surgery and Pathology, Hadassah University Hospital, Jerusalem; and Surgical Dept. B, Carmel Medical Center, Haifa

Gastric leiomyosarcoma (GLMS) is a malignant, smooth muscle neoplasm accounting for not more than 0.45%-3.5% of primary gastric malignancies and 17%-20% of all smooth muscle tumors of the stomach. A well-chavariant has been variously referred to as leiomyoblastoma and epithelioid leiomyosarcoma. Because of the rarity of GLMS, few authors have tried to correlate clinical presentation, pathological findings, and treatment. There is no uniform therapeutic approach for leiomyosarcoma of the stomach and reported survival rates vary widely. We present a 56-year-old man whom we treated for this condition.

Laparoscopic Approach to Perforated Duodenal Ulcer

D. Rosin, Y. Kurianski, M. Shabtai, A. Ayalon

Dept. of General Surgery and Transplantation, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

As laparoscopy becomes more prevalent, it is being used for a growing variety of abdominal operations, both electively and as emergency treatment. We describe our preliminary experience in laparoscopic repair of perforated duodenal ulcer. 2 women and 2 men, aged 40-78 were operated over a period of 4 months and in all laparoscopic suture and omentopexy were performed with meticulous abdominal lavage. Despite somewhat longer operative time but a similar period of hospitalization, the easier post-operative course and fewer wound complications justify this technique. The effectiveness of medical treatment of peptic disease, and especially the anti-Helicobacter pylori regimen, supports the view that closure of the perforation is usually enough, and vagotomy is not needed.

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.

Living-Related Liver Transplantation

N. Bar-Nathan, Z. Shapira, E. Shaharabani, A. Yussim, Y. Ben-Ari, T. Sheinfeld, I. Zehavi, R. Shapira, G. Dinari, Z. Ben-Ari, R. Tur-Kaspa, E. Mor

Dept. of Transplantation and Liver Institute, Rabin Medical Center (Beilinson Campus), and Pediatric Intensive Care and Pediatric Gastroenterology Units, Schneider Children's Medical Center, Petah Tikva

Our experience with living-related liver transplantation is described. In 2 boys and 1 girl, aged 4-4.5 years with acute, fulminating hepatitis A, the presence of very severe jaundice (bilirubin levels > 18 mg%) associated with severe coagulopathy (INR>10) and encephalopathy indicated the need for urgent liver transplantation. In all 3 cases the left lateral hepatic segment of a matched blood type parent was transplanted. None of the donors suffered a serious complication postoperatively and all returned to full activity in 6-16 weeks. The post-transplantation course was uneventful in 1 child, but in the other 2 there was hepatic arterial thrombosis in 1 at 1 day and in the other at 8 days post-transplantation. Early detection of arterial thrombosis by Doppler sonography permitted salvage of the 2 hepatic grafts after thrombectomy and re-anastomosis. In 1 of these 2 children an anastomotic biliary stricture was found 2 months after transplantation. It was corrected at surgery and a percutaneous stent was inserted. All 3 children are alive with normal graft function at 2, 7 and 8 months post-transplantation, respectively. This initial experience indicates that living-related liver transplantation is feasible in Israel. The technique might help to solve our severe organ shortage for children awaiting liver transplantation.

Abdominal Compartment Syndrome

D. Rosin, M. Ben Haim, A. Yudich, A. Ayalon

Dept. of General Surgery and Transplantation, Chaim Sheba Medical Center, Tel Hashomer and SacSchool of Medicine, Tel Aviv University

Abdominal compartment syndrome refers to a complex of negative effects of intra-abdominal hypertension. Its most common cause is complicated abdominal trauma. The syndrome includes mainly hemodynamic and respiratory manifestations but may involve other systems as well. It may present as a life-threatening emergency in the multi-trauma patient. Awareness of the syndrome may enable the surgeon to take preventive measures or to diagnose it earlier and to treat it effectively. We describe a 21-year old man who developed this syndrome after multiple gunshot wounds, with severe liver injury. After 2 operations the typical manifestations of the syndrome were diagnosed. He was re-operated to release intra-abdominal hypertension and then slowly recovered.