תוצאת חיפוש

יגאל אפרתי, גד לוטן, ברוך קלין, לב זלוטקביץ

המח' לכירורגיית ילדים, מרכז רפואי אסף-הרופא, צריפין, הפקולטה לרפואה סאקלר, אוניברסיטת תל-אביב

בעבודה זו מדווח על ניסיוננו במהלך 8 השנים האחרונות בטיפול באשך שלא מושש (אש"מ) בשיטה לאפרוסקופית.

מאה-שלושים-ושלושה ילדים שגילם נע מ-8 חודשים עד לאפרוסקופיה איבחונית. המשולבת לעתים בכריתת אשך, בוצעה ב-59 ילדים עם ניוון אשכים. בשבעים-וארבעה ילדים אובחן אשך תוך-בטני (55.6%). מימצא דו-צדדי אובחן ב-10 ילדים (7.5%). בעשרים-ואחד ילדים (15.7%) היה האשך ממוקם בסמוך לטבעת הפנימית, ובהם בוצעה אורכידופקסיה מיידית בסיוע לאפרוסקופיה, ביתר 53 הילדים (39.8%) בוצע תיקון בשני שלבים לפי פאולר-סטיפנס.

במעקב אחר קבוצה זאת ניצפה ניוון של האשך ב-4 ילדים בלבד.

התוצאות הטובות המדווחות במירב הסדרות שפורסמו בדומה למימצאינו המדווחים במאמר זה, מציבות את השיטה הלאפרוסקופית לטיפול באש"מ כשיטה המועדפת מבחינת הדיוק המוחלט באיבחון, שיעור הסיבוכים והתחלואה הנמוכים והצלחת הטיפול.

אהרן לרנר ורענן שמיר

הקשר בין הגנוטיפ לפנוטיפ של מחלה המועברת בתורשה מנדלית, חזק יותר בהשוואה למחלות על רקע אוטואימוני. באלה האחרונות, בנוסף לתורשה הפוליגנית, משפיעים הגורמים הסביבתיים על מהלך ההתבטאות הקלינית, צורתה, היקפה ושכיחותה. איתור הגורמים הסביבתיים מורכב הרבה יותר מאשר מציאת הגנים הגורמים למחלה, בפרט בעידן של פיענוח גנום האדם.

Assisted Reproductive Technologies Reported in Israel National Registry, 1995 and 1996

V. Insler, O. Gonnen, D. Levran, Y. Lotan, B. Fish, G. Potashnik, A. Kogosovsky, R. Ron-El

Committee of the Israel National Registry Assisted Reproductive Technologies*

National registration of the results of assisted reproductive technology (ART) is maintained by many countries. The Israel Committee for Registry of ART asked 19 in-vitro fertilization (IVF) units in 1995 and 20 in 1996 to report on their activities and results.

Data were collected by questionnaires and analyzed by computer. The most common ovarian stimulation was the combination of GnRH agonist and gonadotropins. There were 10,89 treatment cycles in 1995, of which 45% were with intracytoplasmic sperm injection (ICSI). In 1996, of 12,72 cycles, 54% were with the ICSI procedure. Embryos were transferred into the uterine cavity in 90% of the conventional IVF cycles and in 95% of the ICSI cycles. The overall pregnancy rate was 22% per embryo transfer in the conventional IVF and ICSI cycles. The delivery rate was 13.7% and 15.4% per embryo transfer in the conventional IVF and ICSI cycles, respectively. The rates for abortion and tubal pregnancy were 24% and 1.3%, respectively.

These results are better than in previous years and are comparable with results in some western European countries. Efforts are being made to convert the registry into a real-time computerized system.

Committee of the Israel National Registry of ART.

Gyrate Atrophy of Choroid and Retina, and Hyperornithinemia 

B-A. Sela, J. Zlotnik, T. Masos, G. Yablonski, F. Abraham

Institute of Chemical Pathology and Goldschlager Eye Institute, Sheba Medical Center, Tel Hashomer; and Sackler Faculty of Medicine, Tel Aviv University

Gyrate atrophy of the choroid and retina is a rare degenerative disease, characterized biochemically by a marked increase in blood ornithine levels, due to deficiency of ornithine S-amino transferase. 4 men aged 35, 36, 48 and 62 years are described with different stages of myopia, night blindness and loss of peripheral vision, which progressed to tunnel vision and partial blindness. Onset of the disease was at ages 3, 10 and 15 years, respectively, while in the 4th patient there was delayed expression starting at about age 50. Most had posterior subcapsular cataracts, and the ocular fundus exhibited demarcated circular areas of chorioretinal degeneration. So far the only patients described in Israel have been of Iraqui origin. Our fourth patient originated from Istanbul, and he may represent a hitherto undescribed variant with a much delayed expression of the disease.

Alpha-Amino Adipic Aciduria: a Rare Psycho-Motor Syndrome

Ben-Ami Sela, Tamar Massos, Dov Fogel, Joseph Zlotnik

Pathological Chemistry and Child Development Institutes, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to enzymatic block.

The clinical features associated with alpha-amino adipic aciduria may include mental retardation, developmental and motor delay, learning difficulties, convulsions, speech problems and ataxia. 3 siblings had milder symptoms of psychomotor delay and intermediate degrees of alpha amino-adipic aciduria, suggesting that the described developmental deficits could be related to this metabolite or its derivatives.

D-Lactic Acidosis in Short Bowel Syndrome

Ben-Ami Sela, Joseph Zlotnik, Tamar Masos, Joseph Danieli, Sarah Mazia-Beni, Anita Jonas

Institute of Chemical Pathology and Pediatric Intensive Care and Gastroenterology Units, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

A boy of 20 months and a girl of 27 months who had previously undergone massive bowel resection due to congenital intestinal obstruction are described. During grad-ual reduction of total parenteral nutrition and initiation of oral feeding, both developed severe, acute metabolic acidosis, accompanied by encephalopathy and ataxia. After the laboratory identification of massive amounts of the d-Disomer of lactic acid in urine and blood, both were successfully treated with IV bicarbonate, and metronidazole to suppress the overgrowth of colonic lactobacilli responsible for the metabolic crisis.

Percutaneous Revascularization of the Left Main Coronary Artery as Coronary Artery Bypass in High Surgical Risks

Yoseph Rozenman, Chaim Lotan, Hisham Nassar, Mervyn S. Gotsman

Cardiology Dept., Hadassah-University Hospital (Ein Kerem) and Hebrew University-Hadassah Medical School, Jerusalem

Coronary artery bypass grafting is the treatment of choice for obstructive disease of the left main coronary artery. Its proximal location and easy accessibility make the left main artery an inviting target for percutaneous intervention, an approach contraindicated by the high associated risk. We describe 2 patients at high operative risk in whom the obstructed main coronary artery was successfully revascularized percutaneously. Coronary stenting and rotational ablation of calcified arteries are essential for successful outcome and minimize complications.