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.

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.

Incomplete Penile Amputation: Diagnostic and Therapeutic Challenge

D. Leibovici, B. Yaffe, A. Zisman

Urology Dept., Assaf Harofeh Medical Center and Microsurgery Dept., Chaim Sheba Medical Center, Tel Hashomer

Traumatic penile amputation is a severe injury associated with a potential for multidisciplinary dysfunction. Since such injuries are rare, diagnostic and therapeutic experience is minimal. While complete penile amputation is a straight-forward diagnosis, incomplete amputations are not as evident and diagnosis may be delayed. The therapeutic endpoint includes restoration of an acceptable appearance of the phallus and a urethral meatus that allows normal voiding. Other objectives include re-establishment of sexual potency and fertility. As in other amputations, the treatment of choice is meticulous microsurgical replantation, including re-anastomosis of dorsal and cavernosal arteries, the deep dorsal vein, the urethra and nerves, as well as suturing the tunica albuginea. While appropriate cosmetic results and normal voiding can be achieved in most cases, potency is less frequently achieved due to neurological deficit leading to impaired erection and loss of sensation. Penile amputation is thus a complex therapeutic challenge, as meticulous anatomic reconstruction of blood vessels and nerves is essential for restoration of function. Since incomplete penile amputation may be overlooked when other more obvious injuries draw attention, this injury should be suspected in all cases of penetrating injury of the male genitalia. We present a 17-year-old man who sustained an incomplete penile amputation in a traffic accident.

Thoracoscopic Biopsy of Pulmonary Lesions in Nonpulmonary Malignancy following Chemotherapy

Oded Zamir, Myriam Weyl Ben-Arush, Dan Seror, Herbert R. Freund

Surgical Dept., Hadassah-University Hospital, Mount Scopus, Jerusalem and Miri Shitrit Pediatric Hematology and Oncology Unit, Rambam Medical Center, Haifa

The appearance of focal pulmonary lesions in a patient with a nonpulmonary malignancy is worrisome. Apart from metastasis, the differential diagnosis includes benign conditions such as infectious and granulomatous diseases, enlarged lymph nodes, atelectasis, radiation pneumonitis, and bronchiolitis obliterans with organizing pneumonia (BOOP). CT-guided needle biopsy is not always diagnostic and may not be feasible in very small lesions. Since open lung biopsy is associated with considerable morbidity, many physicians tend to postpone tissue diagnosis for a few weeks and perform a biopsy only if repeat chest CT scans show increase in size or number of the lesions. This approach may lead to undesirable delay of appropriate treatment. We report video-assisted thoracoscopic lung biopsy in 7 patients with nonpulmonary malignancy who developed lung lesions following chemotherapy and/or radiation therapy. Histological examination proved metastatic lesions in only 2. There were no operative complications and recovery was rapid and smooth in all patients. Thoracoscopic lung biopsy is an effective, minimally invasive diagnostic tool that obviates the need for thoracotomy in these patients.

Seminiferous Tubule Cytological Pattern in Infertile, Azoospermic Men in Diagnosis and Therapy

David B. Weiss, Shoshana Gottschalk-Sabag, Elchanan Bar-On, Zvi Zukerman, Yigal Gat, Benjamin Bartoov

Male Infertility and Cytology Units, Shaare Zedek Medical Center, Jerusalem; Andrology Unit, Rabin Medical Center (Beilinson Campus), Petah Tikva and Male Infertility Laboratory, Dept. of Life Sciences, Bar-Illan University, Ramat Gan

We determined spermatogenic patterns of seminiferous tubules in azoospermic infertile men and evaluated the prevalence of bilateral testicular homogeneity. 185 azoospermic men underwent bilateral testicular fine-needle aspiration (TFNA) in which each testis was punctured at 3 different positions. Aspirated material was stained and classified according to the most mature spermatogenic cell type present or whether only Sertoli cells were present. 35.7% had spermatozoa in their testes, 36.2% had spermatogenic maturation arrest, and 28.1% had only Sertoli cells in their seminiferous tubules. In 15.6% of all patients, the diagnosis in 1 testis differed from that in the other. In only 73.2% of those with testicular spermatozoa was it bilateral. In the remaining 26.9%, only Sertoli cells, spermatocytes or spermatids were found as the most mature cell type in the other testis. The study definitely indicates that fertilization with retrieved testicular spermatozoa should not be offered to azoospermic patients without prior evaluation of the seminiferous tubue spermatogenic pattern in both testes.

Angioedema Caused by Splenectomy with Malignant Lymphoma Foll-Owed by Multiple Myeloma 7 Years Later

A. Shahar, R. Sharon, M. Lorber, S. Pollack

Institute of Allergy, Clinical Immunology and AIDS and Institute of Hematology, Rambam Medical Center and B. Rappaport Technion- Faculty of Medicine, Haifa

Acquired C1-inhibitor (C1-INH) deficiency has been reported in patients with immunoglobulin abnormalities and lymphoproliferative disorders, and angioedema has appeared simultaneously with the lymphoproliferative disease. We present a 50-year-old woman with acquired C1-INH deficiency and angioedema which preceded by 7 years the diagnosis of malignant mantle cell lymphoma. During the interval she was treated with Danazole and there were no attacks of angioedema. When routine follow-up bone marrow aspiration revealed infiltration of nonspecified lymphoma cells, exploratory laparotomy and splenectomy were performed. A month later Danazol was stopped, C1-INH levels returned to normal and there were no attacks of angioedema. Mantle cell lymphoma consisting of lymphocytes with cytoplasmic IgM-lambda was diagnosed in the excised spleen but chemotherapy was not initiated. 6 months later, a second lymphoproliferative disorder, multiple myeloma IgA kappa, was diagnosed.

Magnetic Resonance Imaging for Suspected Femoral Neck Fractures

M. Kligman, M. Roffman

Dept. of Orthopedic Surgery, Carmel Medical Center, Haifa

Painful hip as a result of injury, with or without a history of trauma, is a common reason for referring elderly patients to the emergency room. The diagnosis of femoral neck fracture requires the combination of a physical examination, X-rays, and in problematic cases, a bone scan. However, even this combination does not always provide a diagnosis. We present 50 patients with painful hip who complained of limp and reduced hip joint motion, but had no evidence of fracture, either on X-ray or bone scan. After conservative treatment, 5 patients with no history of trauma underwent hemiarthroplasty of the hip for displaced subcapital fracture. In addition, we present a case of subcapital fracture which was diagnosed only by MRI, in whom both X-rays and bone scan were considered normal.

Pediatric Flexible Bronchoscopy

Haim Bibi, David Shoseyov, Michael Armoni, Melly Ohali, Shlomo Pollak, Menachem Schlesinger

Pediatric Dept., Pediatric Emergency Room, Pediatric Day Care Hospital and Immunology and Clinical Allergy Unit, Barzilai Medical Center, Ashkelon; and Bikur Holim Hospital, Jerusalem (Affiliated with the Faculty of Health Sciences, Ben-Gurion University of the Negev)

Between 1993-1996, 200 pediatric flexible bronchoscopies were performed. Indications were: chronic cough (158 children), persistent pulmonary infiltrates (89), recurrent stridor (28), suspected tracheobronchial foreign body (20), suspected tuberculosis (17) and hemoptysis (3). Some children had more than 1 indication. 124 patients were boys (mean 4.18+2.86 years; range 1 month-15 years) and 76 were girls (mean 4.39+2.7 years; range 4 months-15 years). The procedure included direct vision recorded by video-camera and broncho-alveolar lavage; the lavage fluid was sent for culture, Gram and Ziehl-Nielsen stains and for cytology. There were a few minor side effects: mild stridor which resolved within a few hours (10 children) and transient fever (3). This simple, flexible instrument was effective and helpful in the diagnosis and treatment of children with respiratory symptoms in a secondary hospital facility.