תוצאת חיפוש

הלן שיינפלד, פאולה רושקה, אירנה פינקלשטיין, הלל דיוויס

המרכז לבריאות הנפש טלביה, ירושלים

הוואגיניסמוס הוא הפרעה המשויכת לגינקולוגיה ולפסיכיאטריה. רק חלק מהלוקות בוואגיניסמוס מגיעות לטיפול פסיכיאטרי. ייתכן שמקורה הנפשי של ההפרעה שכיח יותר מהאבחנות בפועל. במאמר זה מובאים הנסיבות והגורמים הפסיכולוגיים שבבסיס תופעה זו, בחמש פרשות חולות. בשלוש פרשות החולות הראשונות – נשים צעירות מרקע תרבותי שמרני או דתי – אובחן ואגיניסמוס ראשוני שגרם לנישואים בלתי-ממומשים. התגלה שלאותן נשים היה "סוד" הקשור לחוויה מינית מוקדמת. פרט זה הוא משמעותי ואף עשוי להוות נקודת-מיפנה בטיפול. שתי פרשות החולות הנותרות הן של נשים מבוגרות יותר שלקו בתופעה של ואגיניסמוס מישני לאחר שנים של חיי-מין ללא ואגיניסמוס. במאמר נדונות דרכי הטיפול, השונות בדרך-כלל, בכל אחד משני סוגי ואגיניסמוס מישני עשויה להתגלות הפרעה משמעותית ברקע האישיותי או הזוגי, שיחייב טיפול נרחב וממושך יותר. נודעת חשיבות רבה לכך שרופאים יתנו את דעתם לאותן נשים הזקוקות לטיפול פסיכיאטרי, ולא גינקולוגי.

(1,2) ניר פלד, (1,2) צ'רלס נקר, (2) שי אשכנזי, (1) פאול מרלוב

(1) המח' לילודים, מרכז רפואי רבין, קמפוס בילינסון, (2) מרכז רפואי "שניידר" לילדים, פתח תקווה, הפקולטה לרפואה סאקלר, אוניברסיטת ת"א

בשני העשורים האחרונים, נרשמו תנודות חדות בשכיחות העולמית של מחלת העגבת בכלל ועגבת הילוד בפרט. בראשית שנות התשעים, אובחנה עגבת הילוד בכל 1/10,000 לידות של ילודים חיים בארה"ב. התמותה במחלת עגבת הילוד מגיעה לכדי 40% (תוך- וחוץ-רחמית), ואף השורדים לוקים בתחלואה קשה. לפיכך, ממליץ המרכז לבקרת המחלות בארה"ב (CDC) על סקר נוגדנים בלתי סגולי לעגבת לכל אם הרה במהלך השליש הראשון להריון, או בתחילת המעקב ההריוני, הסקר נערך באמצעות תבחין בלתי-סגולי למחולל העגבת, Treponema pallidum, לרוב תבחין VDRL.

נוכח העלייה הנרשמת בשיעור חולים אלה בישראל, דנה סקירה זו במעקב ההריוני וניהול היילוד שאמו בעלת תבחין VDRL המפורש כחיובי.

Cholesterol Pericarditis Associated with Rheumatoid Arthritis

B. Knobel, P. Rosman

Dept. of Medicine B, Edith Wolfson Medical Center, Holon; and Sackler Faculty of Medicine, Tel Aviv University

Cholesterol pericarditis (CP) is a rare and unusual disease characterized by chronic pericardial effusion with high cholesterol concentration. Precipitation of cholesterol crystals may occur and induce inflammation and constrictive pericarditis. CP may be idiopathic, but is usually associated with a systemic disease, such as tuberculosis, myxedema, or as in our case, rheumatoid arthritis (RA).

We present a 78-year-old woman with RA, typical deformities of the metacarpo- and metatarso-phalangeal joints and subcutaneous rheumatoid nodules. She was hospitalized with increasing dyspnea and weakness and a 2-dimensional transthoracic echocardiogram showed a large pericardial effusion, without tamponade.

Blood cholesterol was 208 mg/dl, triglycerides 169 mg/dl, LDH 37 u/L and rheumatoid factor 2560 u; glucose, kidney, and thyroid function tests were normal and PPD test negative. Pericardiocentesis yielded 800 ml of opaque, cloudy fluid, with glucose 19 mg/dl, cholesterol 264 mg/dl (normal 20-40 mg/dl), triglycerides 169 mg/dl, LDH 5820 u/L and rheumatoid factor 40 u; viral titers and cultures for bacterial, mycobacterial and fungal infections were negative. The pericardial fluid had a distinctive scintillating, gold-paint appearance and many cholesterol crystals were evident microscopically.

The patient responded to treatment with methotrexate and steroids. Factors responsible for increase in pericardial fluid cholesterol may be its liberation from injured pericardial cells and rheumatoid nodules, lysis of red cells, or lymphatic obstruction and impairment of the absorptive capacity of the pericardium.

Diphtheria in a Highly Immunized Population 

Rivka Sheffer, Esther Marva, Rachel Mimon, Paul Slater, Avital Cohen, Tamat Shohat

Tel Aviv District Health Office, Central Laboratory and Epidemiology Dept., Public Health Services, Jerusalem

Although diphtheria vaccination is routine world-wide, outbreaks of the disease continue to occur in supposedly vaccinated populations. The incidence of diphtheria in Israel is very low, with only 3 cases reported in the past 24 years (all in unvaccinated children). In 2 of the 3 an asymptomatic carrier was identified among the patients' close contacts, presumable the source of the infection.

We describe a recent case of diphtheria. It is important for physicians to be aware of the possibility of diphtheria occurrimg despite the high rate of vaccination in our population.

Introduction of Routine Hepatitis Immunization in Israel 

Emilia Anis, Alex Leventhal, Malvina Roitman, Paul E. Slater 

Notification of hepatitis A, which is endemic in Israel, has been compulsory since the establishment of the State. From 1992-98 an average of 2,600 cases were reported annually. Many infections are asymptomatic and mild, especially in children. In general, severity increases with age; in Western countries the case fatality rate is 1.5/1,000 among children less than 5 years old and 27/1,000 among those over 50. Until 1987 incidence in Israel was higher in Jews than in non-Jews, but since 1988 incidence has been about 50% higher in non-Jews.

Among Jews highest age specific rates shifted from children 1-4 years old to children 5-9 years old in 1970, and in non-Jews in 1989. Improved sanitary conditions and personal hygiene have reduced very early childhood exposure and hence increased the proportion of susceptible older children and adults, in whom symptomatic disease is more prevalent.

Israel is the first country in the world to include hepatitis A vaccine in its routine immunization schedule. The vaccine is given in 2 doses: at 18 months and 24-30 months of age, and there will be epidemiologic and serologic follow-up. A significant decrease in hepatitis A morbidity is expected in small children within 5 years. The percentage of reported cases in older children and in adults is expected to increase, although the absolute incidence among these groups will decrease.
 

Dept. of Epidemiology and Public Health Services, Israel Ministry of Health, Jerusalem

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.

Familial Adenomatous Polyposis: Establishing a Registry and Genetic and Molecular Analysis

R. Shomrat, R. Bruchim, Y. Galanty, Z. Samuel, C. Legum, M. Rabau, P. Rozen

Genetic Institute and Depts. of Gastroenterology and Surgery, Tel Aviv Medical Center and Sackler Faculty of Medicine, Tel Aviv University

Familial adenomatous polyposis (FAP), a dominantly inherited disease, is caused by a mutation in the adenomatous polyposis coli gene in chromosome 5q21. The gene has 15 exons, a physical length of 10 Kb and an open reading frame of 8.5 Kb. Exon 15 codes 66% of the mRNA and has a mutation cluster region which accounts for over 50% of mutations. The disease usually leads to the appearance of hundreds of adenomatous polyps in the transverse and descending colon between puberty and age 20 years and to colon cancer before the age of 40. Early detection is essential to prevent the development of metastasizing cancer. Since 1994 we have recruited 23 families for genetic counseling. DNA was obtained from 19 unrelated FAP patients and 219 high risk relatives in 19 unrelated families following confirmation of the diagnosis. In addition to linkage studies, direct mutational analysis was performed using the protein truncation test for most of exon 15 and single strand conformation polymorphism analysis for the other exons. These exons account for most of the mutations identified to date. Of 19 unrelated probands, 14 had detectable mutations. Exon 15 accounted for 6 families, exons 5, 7 and 14 for 1 each, exon 9 for 3, and exon 8 for 2. Combined mutational and linkage analysis identified 18 presymptomatic carriers who received genetic and clinical counseling. Our FAP patients did not differ significantly from those of larger studies in other countries with regard to the distribution of the mutations, gender and genotype-phenotype correlation, or ethnic distribution.