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.

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.

Traumatic Aortocaval Fistula

Gad Shaked, Arie Arisch, David Czeiger

Surgery Dept., Soroka University Hospital, Beer Sheba

Arterio-venous fistula is a relatively rare form of vascular injury. A cof an unusual fistula between aorta and inferior vena cava is presented. Occasionally this type of is difficult to diagnose early. Life-threatening conditions may mandate prompt treatment and the use of damage control strategy. It is also important to diagnose and treat this injury in order to prevent complications. Sudden hemorrhage and congestive heart failure are the major disturbances that result from aortocaval fistula.

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.

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.

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.

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.

Terror in Japan: Mass-Intoxication with the Nerve-Agent Sarin

Yoram Solberg, Orit Nachtomi-Shick, Yehoshua Shemer, Menachem Alcalay

Medical Corps, Israel Defense Forces and Sheba Medical Center, Tel Hashomer

During 1994/5 the Japanese civilian population suffered 2 terror attacks by the organophosphorus nerve-agent sarin. In these 2 episodes it is estimated that more than 6000 people were injured, of whom 19 died. The quick and efficient response of the civilian emergency systems to these unforseen, attacks has to be analyzed by local authorities to determine the best solutions in case of another attack. We summarize the events, and note the emergency system's response, the need for rapid and accurate chemical identification of the toxin, the necessity for decontaminating the casualties and for providing protective gear for rescue units in the contaminated area. We also describe the clinical status of the casualties and outline the mode of therapy applied.

Familial Occurrence of Ebstein Anomaly

Ruti Margalit-Stashefski, Avraham Lorber, Eyal Margalit

Family Practice Unit, Kupat Holim Klalit, Haifa, Pediatric Cardiology Unit, Rambam Hospital, Haifa and Ophthalmology Dept., Hadassah--University Hospital, Jerusalem

Ebstein anomaly is a rare congenital disease which affects location, structure and mobility of the tricuspid valve, and right atrium and ventricle. Although most cases are sporadic, familial occurrence has been reported. We report 2 brothers born with Ebstein anomaly. The parents were first degree cousins and there were 8 other children. 2 daughters were born with other congenital heart anomalies, 1 with ventricular septal defect and the other with severe pulmonary artery stenosis. We suggest that in some families, Ebstein anomaly is an autosomal dominant disease with different expression in the sexes.

Kimura's Disease and Angio- Lymphoid Hyperplasia

Henia Lichter, Karol Segal, Celia Mor, Raphael Feinmesser

Depts. of Ophthalmology, Otolaryngology and Pathology, Rabin Medical Center (Beilinson Campus), Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University

Kimura's disease is a rare angiolymphoid proliferative disorder of soft tissue characterized by subcutaneous swelling and a predilection for the head and neck. There are usually enlarged regional lymph nodes, eosinophilia and elevated sedimentation rate and IgE levels. A 26-year-old women with subcutaneous masses in the submandibular area is reported. The diagnosis of Kimura's disease versus angiolymphoid hyperplasia is discussed.

Fatal Asthma in Children: Preventable?

Haim Bibi, Jamal Mahamid, David Shoseyov, Michael Armoni, Zvika Liss, Menachem Schlesinger

Pediatrics Dept., Barzilai Medical Center, Ashkelon (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev); Pediatric Intensive Care Unit, Bikur Holim Hospital, Jerusalem, and Kupat Holim Klalit, Darom District

Sudden death from asthma is rare but occurs in the young age group. We recently faced this rare situation, when 3 asthmatic children were dead on arrival at the local emergency room. All 3 had been treated with beta-2 agonist inhalation on a regular basis, without anti-inflammatory treatment. 2 of the children died while inhaling the beta-2 agonist. It is important that there be clear guidelines and full education about the management of asthma, during and between exacerbations, to prevent such deaths.

Orthostatic Hypotension as a Manifestation of Malignant Lymphoproliferative Disease

H. Semo, A. Adunsky, E. Grossman

Depts. of Geriatric Medicine and of Medicine D, Chaim Sheba Medical Center, Tel Hashomer

An 85-year-old man was admitted with 6-month history of incapacitating orthostatic hypotension. Investigation led to the discovery of sympathetic dysautonomia, sensorimotneuropathy and malignant lymphoproliferative disease. Several attempts to treat the orhypotension or the neoplastic disease failed to improve his condition. Orthostatic hypotension precipitated by sympathetic dysautonomia may be an infrequent effect of early malignant lymphoproliferative disease.

Six Cases of Acute Rheumatic Fever in One Year

George Habib, Ramiz Abu-Ahmad

Rheumatology Clinic and Dept. of Medicine, Nazareth Hospital; and Medical Dept. B, Carmel Medical Center, Haifa

During 1995, 6 cases of acute rheumatic fever were diagnosed here. Taking into account differences in total admissions, this appears to represent an increase over 1994. Most of the cases were males, with average age at diagnosis 19.5 years. All were of low socioeconomic status. 50% had cardiac involvement, and 1 needed treatment with corticosteroids. Most had pharyngeal symptoms prior to the acute attack, and 1 patient had 2 prior episodes of rheumatic fever. A thorough epidemiological study should be done in the Nazareth area to assess the real incidence of acute rheumatic fever, and to determine whether there is a true increase in incidence.

Sunscreen Use in an Urban Negev Population

Pesach Shvartzman

Family Medicine Dept., Ben-Gurion University of the Negev, Beer Sheba

The use of sunscreen in the Negev population was assessed. The study population included 1458 subjects, mean age 35.5‏±14.2 years, half born in Israel and 25% in East Europe. Two-thirds were exposed to the sun 1-2 hours a day and 13% 4 hours a day or more. Only about 15% used sunscreen while shopping, 69% used it at the beach, and less than half applied it to children being sent to school. Sunscreen use was greater in women (p<0.000001), especially those with sensitive skin (p<0.0001) and red hair (p<0.0001). No significant association was found with age, education or country of birth.