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.

Multisystem Disease Caused by BCG Imitating Miliary Tuberculosis

I. Tsikonov, D. Yeshurun, J.E. Naschitz

Dept. of Medicine A, Bnai Zion Medical Center and B. Rappaport Faculty of Medicine, The Technion, Haifa

As the prevalence of tuberculosis is on the rise in western countries, we present a 79-year-old man who developed a pulmonary tuberculosis-like syndrome following immunotherapy with BCG for carcinoma of the urinary bladder. The symptoms subsided following 3-drug antitubercular treatment, and the addition of steroids following negative cultures for Mycobacterium tuberculosis. The course of this disease, named BCG-osis, is much more favorable than miliary tuberculosis, even with milder treatment. It is important to keep in mind this phenomenon now that there is increasing treatment of cancers with BCG.

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.

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.

Cocaine "Mules"

Ornit Yanai, Jehuda Hiss

L. Greenberg Institute of Forensic Medicine, Tel Aviv (Affiliated with the Sackler Faculty of Medicine, Tel Aviv University)

We present 2 cases of "body-packer" syndrome (BPS) in which the "mules" carrying the packages of narcotics arrived at Ben-Gurion Airport presented symptoms of acute cocaine intoxication due to the bursting of packages of narcotics they were transporting within their gastro-intestinal systems.

Acute cocaine overdose due to sudden massive release of the drug into the digestive system in BPS, may cause psychosis, convulsions and eventually death. Blood levels of cocaine between 0.25 and 5 mcg/ml are toxic and occasionally lethal. When a package bursts within the digestive tract of a smuggler or blocks the intestines, an immediate laparotomy is necessary to evacuate the "ovules" and the remains of the drug from stomach and intestines. Patients merely suspected of being body packers can be diagnosed by physical examination and by means of various imaging methods. They can be conservatively treated with fluids and mild laxatives and kept under close supervision until the remaining packages are naturally discharged.

Sudden onset of psychotic behavior in travelers from South America or other drug-producing countries should raise suspicion of body-packer syndrome. The relevant authorities should therefore be aware of the symptoms and consider their potentially dangerous outcome.

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.

Epidural Spinal Abscess

E. Tamir, Y. Mirovsky, N. Halperin

Orthopedics Dept., Assaf Harofeh Medical Center, Zerifin

A 42-year-old man was admitted for fever and severe low back pain radiating to both legs. On MRI, an epidural spinal abscess from S1 to D10 was seen. Treatment included laminectomy, drainage of the abscess and antibiotics. Recovery was complete without neurological damage. Increased awareness of this disease may lead to diagnosis and treatment.

Lymphoma of the Knee Joint Simulating Patellar Fracture

E. Lebel, M. Itzchaki

Orthopedics Dept., Shaare Zedek Medical Center, Jerusalem

Fracture of the patella is not uncommon after direct anterior knee trauma. However, there are other medical situations that resemble it radiologicaly. We present a patient mistakenly diagnosed as having a patellar fracture who had primary, solitary, malignant B-cell lymphoma of the knee space eroding the lower pole of the patella. We have found no reports of such a lesion in the literature. Another commbenign condition that might erode adjacent bone is chronic synovitis. Our patient was treated withchemo- and radiotherapy and the lesion fully regressed with no evidence of local or systemic recurrence 1.5 years after diagnosis.
 

Meningitis Due to Streptococcus Bovis Type 2

Anat Ben-Ami, Gera Gandelman, David Ergaz, Zev Shtoeger

Dept. of Medicine B, Kaplan Hospital, Rehovot (Affiliated with the Hadassah-Hebrew University Medical School)

Meningitis due to Streptococcus bovis is rare. Only 14 cases having been reported in the English literature. All patients (including the patient described) had an underlying disease or were treated by pharmacological agents that predisposed the patient to the infection. Most were treated by monotherapy with penicillin G (or amoxicillin) and recovered.

We describe a 74-year-old woman who had splenectomy as treatment for hairy cell leukemia 6 months before hospitalization for meningitis and sepsis by S. bovis type 2. She was successfully treated with intravenous amoxicillin. There was neither evidence of endocarditis nor carcinoma of the colon. Although the association between S. bovis meningitis and endocarditis or carcinoma of the gastrointestinal tract is not well established, we recommend a full work-up for GI malignancy and endocarditis in every patient with S. bovis meningitis.

Diagnosis and Treatment of Heart Failure within the Communuity

Haim Ben-Ami, Yehuda Edoute

Dept. of Medicine C, Rambam Medical Center and Technion Faculty of Medicine, Haifa

Congestive heart failure causes substantial morbidity and mortality. Symptoms and physical findings can help in diagnosis, but have limited sensitivity and specificity. Objective measurement of ventricular function is essential in virtually all patients in whom heart failure is suspected; reversible causes of heart failure must be sought.

Out-patient management includes education and counseling, emphasis on and assessment of compliance with diet, and pharmacological treatment. Angiotensin-converting enzyme inhibitors are the mainstay of treatment but are underused, and maximal doses are not given, apparently because of concern about side-effects. Diuretics should be administered only as needed to manage fluid overload. Calcium channel blockers are relatively contraindicated in patients with impaired ventricular function. Patient follow-up should be guided by results of the medical history and physical examination. Routine serial testing of ventricular function and exercise performance is discouraged.

Proper use of Pressurized Hand-Held Inhalers in Patients with Chronic Airway Obstruction 

Shabtai Varsano, Ilana Jacoby, Mila Garenkin

Asthma Care and Education Unit, Dept. of Pulmonary Medicine, and Epidemiology Unit, Meir General Hospital, Sapir Medical Center, Kfar Saba; and Sackler School of Medicine, Tel Aviv University

Inhaling drugs via hand-held inhalers in recommended for those with chronic obstructive airway disease (COPD). Approximately 8%-9% of Israel's population use hand-held inhalers, many of them pressurized. Skill in using them and ability of chronic users to learn their proper use have not been assessed.

During 1993 and 1994 we studied 200 patients with bronchial asthma or COPD who regularly used a pressurized hand-held inhaler (PI), but were not trained to use it in our out-patient pulmonary clinic. Only a third were found to be skilled in its use. About half were completely unable to use it properly, and 17% used it in a suboptimal way. Remarkably, only 40% had been taught anything with regard to its use. About 75% of the suboptimal users significantly improved their skill in its use immediately after receiving a single individual teaching and corrective demonstration session. While 15% failed to learn the proper use of the PI, many of those who improved immediately after a single teaching session retained the learned skills for months.

We conclude that the physician who recommends the use of a PI is responsible for the patient's being taught its proper use in a demonstration session. Skill in its use should be reassessed periodically during the entire treatment period.

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.

Radiologic Appearance of "Falling Gallstones" during Laparoscopic Cholecystectomy

E. Alkalay, D. Yaffe, Z. Spindel

Eyn Vered Clinic and Depts. of Radiology and Surgery, Sapir Medical Center, Kfar Saba and Sackler Faculty of Medicine, Tel Aviv University

Laparoscopic cholecystectomy is the "gold standard" in treating cholelithiasis. Stones are frequently lost in the peritoneal cavity during the procedure, but "missing stones" have been regarded as insignificant. However, there is accumulating evidence that untreated "lost" stones may cause complications even years after operation.

We present a 65-year-old woman who presented with vague complaints, anemia and an elevated ESR. CT scan showed an infiltrating process in extra-abdominal muscles compatible with sarcoma. At operation, 2.5 years after previous laparoscopic cholecystectomy, an abscess was found which contained biliary stones. Because of their small size they were not visible on CT scan. We discuss the possible ways of handling "falling stones."

Characteristics, Management and Prognosis of Acute Myocardial Infarction (Israel 1990-1996)

Israeli Survey Group On Acute Myocardial Infarction

From 1990 to 1996 we conducted consecutive 2-month surveys in all CCUs (n=26) in Israel. The aim was to compare the characteristics, management, and prognosis of patients with acute myocardial infarction (AMI) between the 4 surveys.

Patient characteristics were similar in all surveys. About 75% of patients were males and had a first MI. Mechanical and arrhythmic complications decreased slightly between 1990 and 1996. In contrast, frequency of treatment with thrombolysis, aspirin, beta-blockers and ACE-I, as well as coronary interventional procedures, increased tremendously.

In parallel, 30-day and 1-year mortality decreased significantly, from 16.5% and 22.5%, respectively, to 9.0% and 13.9%. After multiple adjustment for factors associated with mortality, the 30-day relative risk of death for patients hospitalized in 1992, 1994 and 1996 was 0.79 (95% CI 0.59-1.08), 0.75 (95% CI 0.56-1.01) and 0.54 (95% CI 0.39-9.74), respectively, as compared with 1990.

Although there is no direct proof that changes in management of AMI are related to the reduction in mortality seen during the course of the surveys, the association seems likely.

Evaluation of Predictive Factors for Stroke Rehabilitation

Abraham Adunsky, Shlomo Levenkrohn, Yehudit Fleissig, Angela Chetrit, Zvia Blumstein

Geriatric Medicine and Clinical Epidemiology Depts., Chaim Sheba Medical Center, Tel Hashomer

Our objective was to assess the functional disability of stroke patients by the functional independence measure (FIM) and to examine predictive factors for successful rehabilitation. In 127 consecutive stroke patients efficacy of FIM was 23.9±188, efficiency 0.54±0.45 and 81.9% of patients returned home. Functional improvement was statistically significant (p<0.001) in all FIM domains. Multivariate analysis showed that improvement in FIM score was significantly greater in the younger, among the married, the hemiparetic, and those with an admission FIM of 40-60, while efficiency was related only to type of diagnosis. In addition, the hemiparetic were 3.3 times more likely to return home than the hemiplegic.

We conclude that rehabilitation priorities should be directed towards patients younger than 75 years and to those with an admission FIM of 40-60 points. The results of this study reaffirm the usefulness of the FIM index in assessing stroke rehabilitation.