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.

Combination Chemotherapy in Metastatic Urothelial Cancer

A. Sella, D. Flex, D. Gafni, O. Rabinovitz, A. Sulkes, J. Baniel

Genitourinary Medical Oncology Unit, Depts. of Oncology and Urology, Rabin Medical Center, Beilinson Campus, Petah Tikva and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv

The treatment of metastatic urothelial cancer is based on the combination of cisplatin, methotrexate, vinblastine and adriamycin (M-VAC). From November 1994 to May 1997 we treated 25 patients (51 men, 3 women, aged 50-77) with M-VAC. The tumor originated from the urinary bladder in 14 (56%) and the upper urinary tract in 11 (44%). Disease sites included: primary - 5 (25%), lymph nodes - 17 (68%), lungs - 10 (40%), bones - 8 (32%), pelvic mass and liver each - 4 (16%), with an overall median of 2 (1-5) sites per patient.

9 patients (38%) had complete responses and 8 (32%) had partial responses, for an overall response rate of 68% (95% CI 48.5%-85%). The median duration of response was 15.3 (1.6-29.6+) months. Median survival of responders was 19.1 (4.8-35.7+) months compared to 6.2 (0.7-11.2) for the non-responders (p<0.05). 13 (52%) of patients are alive, of whom 8 (32%) are free of disease and 5 with a single metastatic site on presentation at follow-up.

In the 118 treatment cycles we observed grade III-IV toxicity: myelosuppression 53 (45%), thrombocytopenia 4 (3%), stomatitis 8 (6.7%), diarrhea 3 (2.5%). There were 22 infectious episodes and 1 patient died of sepsis.

We achieved a high response rate with the combination M-VAC. However, only a third had long-term disease-free states and treatment was associated with excessive toxicity. Thera-peutic approaches with new agents are required to improve the response rate and toxicity.

Ambulatory Oral Procedures on Low-Dose Aspirin

Ronen Gaspar, Leon Ardekian, Benyamin Brenner, Micha Peled, Dov Laufer

Dept. of Oral and Maxillofacial Surgery, and Thrombosis and Hemostasis Unit, Rambam Medical Center, Haifa

Discontinuation of long-term, low-dose aspirin prior to ambulatory oral surgical procedures was assessed in a blind, controlled prospective study. 50 patients on low-dose aspirin who needed dental extractions, periodontal surgery, or other ambulatory oral surgery were randomly divided into test and control groups. The control patients stopped taking aspirin a week before operation, but in the test group aspirin was continued. Before, during and after surgery bleeding time was tested. Although bleeding time was significantly longer when aspirin was continued, in both groups it was within normal limits. Intraoperative hemorrhage was more frequent in those taking aspirin. Hemostasis control posed no problem and there were no postoperative complications in either group. It is concluded that discontinuing low-dose aspirin prior to elective oral surgery is not justified.

Self-Limited Lymphadenopathy Mimicking Lymphoma or Lupus

I. Solt, N. Gatas, Y. Cohen, D. Rimon

Medical Dept. B and Pathology Dept., Western Galilee Regional Hospital, Naharia and Bruce Rappaport Faculty of Medicine, The Technion, Haifa

Kikuchi-Fujimoto disease in a self-limited lymphadenopathy that can be confused histologically and clinically with lymphoma or systemic lupus erythematosus. It was diagnosed in a 37-year-old woman presenting with fever, cervical, submandibular and axillary lymphadenopathy, weight loss and recurrent urinary tract infections. Lymph node biopsy was consistent with the diagnosis of a histiocytic necrotizing lymphadenitis. Early diagnosis of Kikuchi-Fujimoto disease can prevent harmful treatment.

Comparison between Every-Day and Every-3-Days Fluoxetine in Young, Moderately Depressed Out-Patients

A. Shiber, H. Reuveni, A. Elhayany, I.Z. Ben-Zion

Psychiatric Dept., Psychiatric Division, Soroka Medical Center and Ben-Gurion University of the Negev, Beer Sheba; and Medical Division for Drug Utilization, Kupat Holim Klalit (Sick Fund)

Fluoxetine is now a well-known and often-used specific serotonin reuptake inhibitor (SSRI) and antidepressant. It has a very long active half- life, from 2-16 days. Our hypothesis was that sufficient therapeutic effectiveness would be achieved by prescribing the drug less frequently than once a day.

To establish whether there is a difference between fluoxetine given daily or every 3 days, we assigned 25 outpatients with mild to moderate, acute major depressions (DSM-IV) to receive fluoxetine (20 mg), either each day or every 3 days. The study was open-labelled, using for assessment the HAM-D, GHQ-28 side-effect checklist and clinical judgment questionnaires. Follow-up lasted 6 months.

Results indicated no differences in the clinical outcomes, except for slightly fewer side-effects in the study group. Although the open label design limits drawing definitive conclusions, our preliminary results provide more information, and support our hypothesis that low-dosage fluoxetine is beneficial. However, more comprehensive, double-blind studies are necessary to confirm our preliminary results.

Investigating Chest Pain: is there a Gender Bias?

Leonardo Reisin, Chaim Yosefy, Sharon Kleir, Emil Hay, Ronit Peled, Shimon Scharf

Cardiology and Emergency Depts. and Epidemiology Unit, Barzilai Medical Center, Ashkelon (Affiliated with Ben-Gurion University, Beer Sheba)

Ischemic heart disease (IHD) in women is characterized by a higher morbidity and mortality in the peri-infarction and coronary bypass peri-operative periods. These epidemiological data strengthen our impression that the health system unintentionally "ignores" the high proportion of females with IHD.

The process of investigating chest pain, diagnosing IHD, and the subsequent treatment and rehabilitation, seem to differ between the genders. Time elapsed from beginning of chest pain to diagnosis of IHD seems to be longer in women than in men. Personal, educational and social factors are contributory.

Although time elapsed between diagnosis and rehabilitation is usually similar in the genders, peri-operative morbidity and mortality are higher in women. It may be that the higher rates in women are caused by delay in diagnosis and treatment, which allows worsening of the disease in women before treatment. This delay can occur during the time needed for evaluation of chest pain, from the door of the physician to diagnosis and treatment.

In our retrospective study we determined the difference in referral of men and women with chest pain to the emergency department (ED) and the attitude of physicians in the ED and medical department to chest pain in men and in women, including final diagnosis on discharge. 615 patients over 18 years referred to the ED for chest pain during 3 randomly chosen, consecutive months were studied. We found that women constituted only 39.5% of the referred patients, but the proportion hospitalized was similar to that in men. Hospitalized women were older (57.7±18.4 versus 49.7±17.8 years in men), and had more risk factors (4 versus 2 in men). Proportions of specific diagnoses on discharge from hospital were equal in the genders.

To bridge the differences and to implement education in prevention, investigation and treatment of IHD in women, we established the "Female Heart" clinic. The objective of this clinic is to reduce differences in the first step, in the process of evaluating chest pain in women, by educating and encouraging them to present early to their physicians, and by changing physicians' attituin the investigation of chest pain in women. We plan to determine in a prospective study if these goals are.

Extensive Liver Resection: a Series of 72 Cases

Moshe Hashmonai, Doron Kopelman, Ahmed Assalia, Yoram Klein, Hani Bahus, Alex Beny, Yaakov Baruch

Depts. of Surgery B, Oncology and Unit for Liver Diseases, Rambam Medical Center and Technion Faculty of Medicine, Haifa

Partial liver resection is the treatment of choice for various liver diseases, including primary and secondary (metastatic) malignancies, benign tumors, cysts, abscesses, trauma, etc. Improved knowledge of hepatic anatomy and physiology, improved diagnostic techniques and more developed peri-operative treatment have reduced postoperative morbidity and mortality to acceptable levels.

We present a series of 72 liver resections, the majority of which were liver lobectomies or more extensive procedures performed during 1982-1997. The percentage of postoperative complications, which ranged from 1.3% to 19.4%, and mortality (8.3%; 6/72) are comparable to those of other large series in the world literature. We believe that better appreciation of the surgical potential of Israel by our medical community will improve our therapeutic approach to various liver diseases.

The Surgeon and the Emperor: a Humanitarian on the Battlefield

M. Feinsod

Dept. of Neurosurgery, Rambam (Maimonides) Medical Center; B. Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa

The Baron Dominique-Jean Larrey, one of the greatest names in military surgery, participated as Chief Surgeon in all the Napoleonic campaigns. He developed the concept of early evacuation from the battlefield, and of immediate treatment of the wounded, even under fire. He implemented improved surgical techniques and improved wound care that were followed by surgeons all over Europe. His devotion to wounded soldiers crossed national boundaries and became a way of life. Here is an account of Larrey's involvement in the aftermath of the Battles of Lutzen and Bautzen (May-June 1813), when many soldiers were accused of self-mutilation and were about to be executed. He dared to oppose, singlehanded, the Emperor, the highest military authorities and their concurring physicians and surgeons, armed only by his undisputed honesty, professional authority and exceptional reputation won over years of devotion to wounded soldiers. Larrey saved the lives of many soldiers and set an example of unbent ethical integrity.

Risk of Transmission of Viral Disease by Needle Puncture in Health Care Workers

Yosef Mishal, Chaim Yosefy, Emil Hay, Dalia Catz, Elisia Ambon, Roza Schneider

Infectious Disease Unit, Emergency Dept. and Microbiology Lab, Barzilai Medical Center, Ashkelon (Affiliated with Ben-Gurion University of the Negev)

The accidental exposure of the health care workers (HCW) to blood and blood products constitutes a danger for transmission of blood-borne pathogens and the development of severe diseases. Most attention is focused on exposure to the viruses of hepatitis B, C and human immunodeficiency. The objectives of this prospective study were to determine the rate of exposure of our HCW to blood and blood products; to define the high risk groups; and to establish recommendations to prevent transmission or reduce the risk of exposure to these viruses.

During the year 1996, 103 injuries from needle-puncture or other sharp objects were reported to our infectious diseases control unit. Most of those injured were women. 58.4% of the events occurred in the vicinity of the patient. The source of exposure was known in 60% of the cases. 73.8% of those injured had already been immunized against hepatitis B. The departments in which most exposures occurred were the operating theater (12.5%), medical departments A (10.6%) and B (9.6%), and the emergency department (7.7%). Nurses were at highest risk, constituting 47% of those injured.

Our recommendations are that a continuous teaching program be established for the high risk groups; that HCW be urged to report every event of exposure; and to encourage HCW to undergo active immunization against hepatitis B.

Transcatheter Closure of Atrial Septal Defect

Benjamin Zeevi, Michael Berant, Rami Fogelman, Galit Bar-Mor, Leonard Blieden

Cardiology Institute, Schneider Children's Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University

Isolated secundum atrial septal defect is one of the most common congenital heart defects. Surgical closure is the treatment of choice but is associated with a chest scar, some morbidity and a relatively long recovery and the use of cardiopulmonary bypass. Transcatheter closure of secundum atrial septal defect is therefor an attractive approach.

3 children, aged 5-10 years, underwent successful transcatheter closure of moderate to large central atrial septal defects with the Cardioseal device. The procedures were performed under x-ray and transesophageal echocardiographic guidance.

Our initial experience, and that of others, indicates that transcatheter occlusion of secundum atrial septal defects is safe and effective and can be an appropriate alternative in approximately 60% of patients.

Optic Glioma in Children with Type 1 Neurofibromatosis

M. Ben-Arush, H. Goldberg, A. Kuten, J. Guilbord, R. El-Hassid

Pediatric Hematology-Oncology Unit, The Northern Israel Oncology Center, and Division of Neurosurgery, Rambam Medical Center; and Technion School of Medicine, Haifa

During the period 1985-95 we treated 5 girls and 13 boys with optic glioma associated with Type 1 neurofibromatosis (median age 3 years, range 2-10 years). 6 were treated with radiotherapy alone, 1 with surgery and radiation therapy and 1 with chemotherapy in order to postpone irradiation to an older age; 1 is being followed with no therapy. All children are alive, 2-10 years from diagnosis (mean follow-up time 5.4 years). 3 had improvement of vision following therapy and in 4 visual ability stabilized, including the child being followed without treatment. In 1 vision deteriorated despite therapy.

Treating Mother and Baby in Conjoint Hospitalization in a Psychiatric Hospital

Shmuel Maizel, Vladislav Fainstein, Sarah K. Katzenelson

Dept. B, Eitanim Mental Health Center, Jerusalem

Since 1990 we have been admitting mothers with postpartum psychiatric morbidity together with their babies to our open psychiatric ward. The aim of conjoint hospitalization is to maintain and develop the bond between mother and baby while treating the mother's psychiatric disorder. The presence of the infant in the hospital allows both a thorough evaluation of the mothers' maternal ability and to use the infant as a facilitator of the mothers' recovery by engaging maternal functions. It prevents the infants from being placed in a foster home for the duration of the mothers' hospitalization. Readily available in Britain and Australia, such conjoint hospitalization is controversial and rarely available elsewhere. In the past 5 years we hospitalized 10 women with 11 babies (1 woman was hospitalized twice, after different births). All women had received psychiatric treatment prior to childbirth, but this was the first psychiatric hospitalization for 2 of them. Diagnoses (DSM-IIIR) were chronic paranoid schizophrenia (4), disorder (4), schizo-affective schizophrenia (1) and borderline disorder (1). 8 were suffering from active psychotic symptoms on admission. They were treated pharmacologically, received individual and group psychotherapy, and participated in all ward activities. Families were engaged in marital, family and/or individual therapy according to need. All participated in cognitive-behavior treatment tailored to individual need to build and enrich the mother-infant bond. All improved significantly and were able to function independently on discharge, but in 1 case adoption was recommended.

Folic Acid Deficiency in Chronically Hospitalized Mental Patients

Ivan Fuchs, Leonid Omansky, Yaakov Lerner

Eitanim Mental Health Center, Jerusalem (Affiliated with the Hebrew University-Hadassah Medical School)

Studies over the past 30 years have shown a relationship between folic acid deficiency and psychopathology. FA deficiency was observed more often in depressed and in psychotic patients, in alcoholics, in those suffering from organic mental disorders and in the psycho-geriatric population. In a chronic inpatient population of 120 patients, of the 106 in whom FA serum levels were examined, only 1 had a definitely subnormal level. An additional 16 had close to the lower limit of normal (2 ng/ml) and were considered borderline cases. FA-deficient and borderline patients were then compared to matched patients with normal FA levels on the MMSE and PANSS scales by blinded raters. Small differences were found between the 2 groups. The FA-deficient and borderline patients had more organic and psychotic symptoms, but the differences were not statistically significant.

Characteristics of Israeli Primary Health Care Physicians who Treat Depression

Jonathan Rabinowitz, Dina Feldman, Revital Gross, Wienka Boerma

Bar Ilan University, Ramat Gan; Israel Ministry of Health; JDC-Brookdale Institute, Jerusalem; and Netherlands Institute of Primary Health Care (NIVEL)

Primary health care physicians have a pivotal role in treating mental health problems. We determined the proportion of primary care physicians in Israel who treat depression and their characteristics. The study was based on a stratified national random sample of primary care physicians (n677, response rate 78%). From these physicians' reports 22% always treat depression, 36.6% usually, 28.6% sometimes, and 12.6% never. Based on a logistic regression model the physicians who always or usually treated depression were distinguished from the other physicians by their treating more medical conditions on their own, seeing themselves as having more first contact for psychosocial problems, having frequent contact with social workers and specializing in family medicine. Primary health care physicians play a major role in treating depression on their own. This raises new questions about how they treat depression themselves, and under what circumstances they treat or refer to a specialist.

Trisomy 18 Anomalies on Sonography and Calculated Risk of Chromosomal Abnormalities During First Trimester

Ron Maymon, Arie Herman, Eli Dreazen, Mati Glasner, Zvi Weinraub

Ultrasound Unit, Dept. of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Zrifin, and Sackler School of Medicine, Tel Aviv University; and Women's Health Center, Kupat Holim, Holon Branch, Tel Aviv-Jaffa District

Trisomy 18 is a chromosomal disorder giving multiple anomalies. Its frequency depends on maternal age. We report a 28-year-old woman in her first pregnancy, who underwent first trimester scanning for screening. Due to increased nuchal translucency and exomphalos, chorionic villous sampling was performed. Cytogenetic diagnosis was trisomy 18 and termination of pregnancy was carried out immediately.