תוצאת חיפוש

Oncogenetic Counseling and Genetic Testing of Those at High Risk for Breast and Ovarian Cancer

Livia Theodor, Ronit Shiri-Sverdlov, Galit Hirsch Yechezkel, Revital Bruchim Bar-Sade, Eva Gak, Irit Friedman, Anna Kruglikova, Gilad Ben-Baruch, Shulamit Risel, Moshe Z. Papa, Boleslav Goldman, Eitan Friedman

Oncogenetics Unit, Dept. of Clinical Epidemiology, Institute of Genetics, and Gynecology, Oncology, and Surgical Depts., Chaim Sheba Medical Center, Tel Hashomer

There is inherited predisposition to breast and ovarian cancer in 5-10% of all women with these diseases. Germline mutations in BRCA1 and BRCA2 presumably account for most of the genetically susceptible individuals. We summarize 2 years of experience in counseling and testing for inherited predisposition to these cancers.

597 women (from 320 families) have been evaluated since August 1995. 242 were evaluated for inherited predisposition to breast and ovarian cancer. One-third had clear-cut evidence of familial background. 74 families were of Ashkenazi origin; the age range of breast cancer was 30-35, of ovarian cancer 40-45. In 80% of families other cancers were also noted in first degree family members, including lung, colon, and prostate cancer and leukemia.

Genetic testing revealed that 45% of affected and 25% of unaffected women were carriers of a mutation in BRCA1 or BRCA2: 67/90 185delAG (BRCA1), 12/90 6174delT (BRCA2), and 4/90 of 5382insC (BRCA1). In addition, a novel mutation in exon 11 of BRCA1 was detected, carried by 7/90 women. The experience gained in oncogenetic counseling and genetic testing for inherited cancer predisposition will eventually enable determining an optimal, rational therapeutic regimen in carriers of mutations.

Ketogenic Diet for Intractable Epilepsy in Adults

Yaffa Schiff, Tally Lerman-Sagie

Nutrition and Diet Unit, Tel Aviv Medical Center; and Pediatric Neurology Unit, Wolfson Medical Center, Holon; and Sackler Faculty of Medicine, Tel Aviv University

The ketogenic diet is an accepted alternative for children with intractable generalized or multi-focal seizures not amenable to surgery. It is not commonly used in adults because of the impression that the diet is less effective after childhood, when it is more difficult both to achieve ketosis and to change dietary habits. We present a 20-year-old man with intractable epilepsy since early childhood who is being treated with great success by a medium-chain triglyceride ketogenic diet. It has not only controlled the seizures but has also improved quality of life. We recommend a therapeutic trial of the ketogenic diet in intractable epilepsy for all ages.

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.

Effect of Alpha-Alpha Esterol on Plasma Cholesterol and Antioxidants

Y. Levy, E. Paster, G. Dankner, A. Ben-Amotz, J.G. Brook

Lipid Research Unit, Medical Dept. D, Rambam Medical Center; Rappaport Faculty of Medicine, The Technion; and Israel National Oceanographic Research Institute, Haifa

16 patients with hypercholesterolemia were treated with an extract of alpha-alpha leaves (esterol) while on a low-fat, low-cholesterol diet. Esterol is believed to inhibit the absorption of cholesterol and bile acids and may interfere with the absorption of essential nutrients. As oxidative modification of lipoproteins is required for the process of atherosclerosis, plasma antioxidant vitamins were followed. After 4 months of treatment, plasma cholesterol decreased by 10% from 282 to 250 mg/dl (p<0.001) and LDL cholesterol by 13%, from 203 to 177 mg/dl (p<0.001). Plasma antioxidant vitamins E, A and β-carotene were unchanged. Thus, esterol has a cholesterol-lowering effect but apparently does not lower fat-soluble, plasma antioxidant vitamins. Both cholesterol-lowering and plasma antioxidant vitamins are important for the primary prevention of coronary artery disease in hypercholesterolemia.

Treating Hospitalized Children in Severe Pain with Oral Methadone

Yoram Shir, Victor Shvelzon, Gila Rosen

Pain Treatment Service, Dept. of Anesthesiology, Hadassah University Hospital, Jerusalem

Pain relief is usually inadequate in hospitalized patients, especially in children, either after surgery or with various medical conditions. Among other reasons, this is due to suboptimal use of available analgesic drugs. In the past 2 years oral methadone has become our opioid of choice for severe pain in hospitalized children who can take oral medication. More than 70 babies and children, aged 8 months to 9 years, who suffered mainly from pain due to burns or cancer, were treated by the in-hospital pain service. They received 0.1% methadone syrup, 0.2-0.4 mg/kg/day, for from a few days to more than a month. In most there was significant pain relief with no serious side-effects. In some, treatment could be changed to parent-controlled analgesia after a few days, with no adverse effects. We describe 5 of the children who present the advantages of oral methadone over other opioids.

Aseptic Loosening of Joint Implants

Dror Fuchs, Chaim Zinman, Dina Lewinson

Orthopedic and Traumatology Dept. B, Rambam Medical Center; and Div. of Morphology Sciences, Bruce Rappaport Faculty of Medicine, The Technion, Haifa

The purpose of orthopedic joint implants is to improve joint movement. Within the past 30 years, biomechanical improvements affecting the life-span of the implants has brought a new type of problem: the biological response to debris from the implant material contributes greatly to aseptic loosening of the prosthesis. The process is mediated by osteotropic factors, cytokines released from mononuclear cells, and osteoblasts and osteoclasts in the bone-cement interface or bone-implant interface.

Screening Tests for Detecting Breast Cancer: Performance Rates and Characteristics of Patients

Netta Bentur, Revital Gross, Ayelet Berg

JDC-Brookdale Institute of Gerontology and Human Development, Jerusalem

Screening tests including mammograms for early detection of breast cancer are in the basket of services provided under the National Health Insurance Law. The law also defines the population groups entitled to mammograms, and sets the frequency of the test as once every 2 years. The aim of this study was to examine the screening rates for early detection of breast cancer at the inception of the law, in order to monitor future changes in performance rates, and identify the characteristics of those unlikely to undergo these tests, in order to promote the use of screening tests by them. This study is part of a comprehensive survey examining the effect of the National Health Insurance Law on the Israeli population.

The survey, carried out in the summer of 1995, included a sample of 1,400 Israeli residents aged 22 and over. To determine performance rates for clinical breast examinations a subgroup of 515 women aged 30 and over was sampled. To determine performance rates for mammograms, 173 women were aged 50-74 (the entitlement ages under the law), were sampled. 54% of women aged 30+ reported having had at least 1 clinical breast examination during their lifetime, and 56% of women aged 50-74 reported having had a mammogram during the past 2 years. Variables with an independent effect on the likelihood of having had a clinical breast examination by a physician during the past 2 years were: being over the age of 50, having at least 9 years of education, being a veteran resident of Israel (as opposed to a new immigrant), and being Jewish. Variables with an independent effect on the likelihood of having a mammogram during the past 2 years were: being a veteran resident of Israel, and having a high income צ which was found to have a borderline effect. The findings of the survey emphasize the importance of changing the behavior patterns of both women and physicians, informing women about their entitlement to the tests, and raising consciousness of the importance of having repeated clinical examinations by a physician, as well as mammograms.

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.

Perisacral Angiosarcoma after Irradiation of Carcinoma of the Sigmoid

J. Zidan, C. Stayerman, H. Turani

Oncology Unit and Pathology Institute, Rebecca Sieff Hospital, Safed

Secondary malignancy is a well-recognized complication of radiation therapy. The risk of postirradiation sarcoma in long-term follow-up is 0.03-0.8%. We report a case of radiation-induced perisacral angiosarcoma 6 years after pelvic irradiation for sigmoid cancer in a 77-year-old man. The tumor was diagnosed postmortem and was locally advanced and metastatic. He died 6 months after onset of symptoms. This case demonstrates the importance of long-term follow-up in those given radiotherapy.

Fibrosarcoma after Silicone Breast Augmentation: Associated?

Anabel Aharon-Maor, Yair Levy, Yehuda Schoenfeld

Medical Dept. B, Chaim Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University

We describe a 42-year-old woman in whom bilateral fibrosarcoma of the breast was diagnosed 15 years after bilateral breast augmentation with silicone implants. 3 years prior to admission the implants were replaced and 2 years prior to admission mammography showed a nodule in the left breast which biopsy showed to be fibrosarcoma. The implants were removed from both breasts and she was given chemotherapy but later that year underwent bilateral mastectomy. Despite chemotherapy, as well as adjuvant radiotherapy, the disease progressed, with involvement of the lungs and the skin of the left hemithorax. She was admitted repeatedly for severe anemia caused by bleeding from the malignant skin lesions, and died less than 2 years after diagnosis of the disease.

Not all reports in the literature find a significant connection between silicone implants and subsequent development of breast cancer, but there are reports that do connect them. Breast fibrosarcoma is not significantly more frequent after silicone augmentation, but still there is controversy as to whether there is a connection between silicone implants and breast malignancy. In the patient we present, the prolonged exposure to silicone may have been a predisposing factor for the development of bilateral fibrosarcoma, since other known risk factors for breast cancer were denied.

Intra-Osseous Ganglion of Scaphoid and Lunate Bones

M. Kligman, M. Roffman

Dept. of Surgery, Carmel Medical Center, Haifa

We present a patient with intra-osseous ganglion of the left scaphoid and lunate bone. These were excised and a bone graft inserted. 1 year after operation the patient was free of pain, without limitation of wrist motion. Intra-osseous ganglion of the carpal bone is not common and lunate and scaphoid intra-osseous ganglion has rarely been reported. Awareness of this condition may lead to earlier diagnosis and treatment, with satisfactory outcome.

Pelvic Lytic Lesion and Osteoporosis-Related Fractures

Yaron Weisel, Ehud Rath, Nissim Ohana, Dan Atar

Orthopedic Dept., Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Insufficiency fractures of the pelvis may be overlooked as a cause of hip or groin pain. These fractures occur in the elderly, usually those with pronounced osteopenia of the pelvis. Predisposing factors include corticosteroids, local irradiation and postmenopausal osteoporosis. These fractures are difficult to detect clinically and plain radiographs and other studies may be misleading, delaying diagnosis and treatment. A 65-year-old woman had left groin and hip pain for 2 months with no history of trauma. Plain radiographs showed lytic lesions in the left pubic rami. Bone scan revealed increased uptake in that region, suggesting metastatic bone disease. Computed tomography and magnetic resonance imaging demonstrated fractures in the left superior and inferior pubic rami, with callus formation with no involvement of soft tissues. Quantitative computed tomography indicated low calcium concentration, below fracture threshold. The diagnosis of insufficiency fractures of the pelvis was confirmed by the favorable clinical and radiographic outcome. It is therefore important to be familiar with the appearance and location of these fractures.

Hepatocellular Damage after Using Ecstasy

E. Shiloach, E. Zecler, M. Horowiz, E. Scapa

Depts. of Medicine C and Gastroenterology, Assaf Harofeh Medical Center, Zerifin (Affiliated with Sackler Faculty of Medicine, Tel Aviv University)

Ecstasy is a stimulant used mainly by youngsters to get 'high.' There are few reports of acute injury of the liver due to ecstasy. We describe a 37-year-old woman who presented with the clinical picture of recurrent hepatitis following ingestion of the drug. After several months she developed liver cirrhosis shown by biopsy and CT scanning. This case emphasizes the potential danger of ecstasy. Every patient with hepatitis of unknown origin must be questioned about ingestion of the drug.

Recurrent Syncope as a Presenting Symptom of Systemic Mastocytosis

Iris Barshack, Ginette Schiby, Ofer Shpilberg, Yechezkel Sidi

Pathology Dept., Hematology Institute and Medical Dept. C, Chaim Sheba Medical Center, Tel Hashomer

A 48-year-old man presented with recurrent syncope which was preceded by facial edema and difficulty in breathing. Physical examination, laboratory tests, abdominal CT and bone scan were all within normal limits. Bone marrow biopsy was consistent with mastocytosis. Systemic mastocytosis consists of a spectrum of disorders characterized by aberrant proliferation of tissue mast cells, and are mainly related to mast cell mediator release.

Diagnosis of Cerebral Embolism by Transesophageal Echocardiography

A. Mahagney, D. Sharif, B. Weller, E. Abineder, B. Sharf

Depts. of Neurology and Cardiology, Bnai Zion Hospital, Haifa

Cerebrovascular events have high mortality and morbidity, especially in the elderly. Ischemia is the main cause and 30% of the ischemic events are embolic and of cardiac origin. The clinical picture is not always typical of the type of stroke, but diagnosis of the mechanism of the event determines treatment. Transesophageal echocardiography (TEE) is a sensitive procedure more appropriate for diagnosing emboli of cardiac origin than transthoracic echocardiography (TTE). We therefor compared TEE and TTE in the determination of the source of emboli in 65 patients with ischemic stroke but without significant atherosclerotic changes in their carotid arteries, and compared these findings with those in 50 patients without stroke. 68% of the patients had potential sources of emboli according to TEE, compared to only 15% according to TTE. In the control group only 24% had potential sources of emboli by TEE. The findings were: clots in the left atrium, severe aortic atheroma, patent foramen ovale with paradoxical shunt, spontaneous echocardiography contrast, vegetations and mitral valve prolapse. The study showed that TEE is better than TTE in detecting the etiology of embolic stroke in those with normal carotid arteries, thus determining appropriate management.