תוצאת חיפוש

An Achondroplastic Dwarf with Paraplegia

A. Rakier, G. Sviri, M. Feinsod

Dept. of Neurosurgery, Rambam (Maimonides) Medical Center, Rappaport Faculty of Medicine, The Technion, Israel Institute of Technology, Haifa

A 30-year-old female achondroplastic dwarf developed a progressive gait disturbance erroneously attributed to her hydrocephalus and deformities of both legs. Her condition deteriorated into flaccid paraplegia with anal and urinary incontinence. CT revealed extreme spinal stenosis typical in achondroplasia (shallow vertebbody, short pedicles, and hypertrophy of intervertebral joints) together with disc protrusions. Wide laminectomy of the lumbar vertebrae resulted in complete amelioration of all the neurological deficits. Progressive paraplegia is a rare complication of achondroplasia; its early recognition and surgical treatment is very rewarding.

Gynecologic Problems of the Lower Genital Tract in Children and Young Adolescents

Giulia Barda, Dino Bernstein, Sagit Arbel-Alon, Haim Zakut, Joseph Menczer

Dept of Gynecology and Obstetrics, Edith Wolfson Medical Center, Holon and Sackler Faculty of Medicine, Tel Aviv University

Hospital records of 46 girls under the age of 17 years, hospitalized for lower genital tract problems in 1986-95 were reviewed. The most common conditions were results of unintentional injuries (43.5%), imperforate hymen (28.2%) and infections (19.6%). The median age for unintentional injuries was significantly lower than for other conditions (7.0 vs 11.4; p<0.001). Most injuries were external and occurred during outdoor activities. Mean volume of estimated bloody fluid drained in those with imperforate hymen was greater when the diagnosis was made after the age of 12 (783 vs 433; not significant). It has been suggested that hematocolpos and hematometra should be prevented, but the possible unfavorable sequelae have not been documented. The relative order of frequency of the various diagnostic groupings and the diagnoses of labial adhesions and imperforate hymen are specific for the age of the study group.

Therapeutic and Toxic Theophylline Levels in Asthma Attacks

Aliza Zeidman, Joseph Gardyn, Zinaida Fradin, Gershon Fink, Moshe Mittelman

Dept. of Medicine B, Rabin Medical Center, Golda (Hasharon) Campus and Pulmonary Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva; and Sackler Faculty of Medicine, Tel Aviv University

Although first-line therapy for bronchial asthma has changed over the past decade to anti-inflammatory medication such as inhaled corticosteroids and cromolyn with possible addition of beta-agonists, theophylline is still useful and therefor widely used. However, several studies have raised serious questions regarding its efficacy in acute asthmatic exacerbations. These studies, the narrow therapeutic range of the drug, the frequency of side effects and interactions with common drugs, and individual variation in clearance and metabolism, have prompted its reevaluation in the management of asthma. Therapeutic serum levels of theophylline are between 10 to 20 mcg/ml. Most adults achieve these concentrations with daily slow-release oral theophylline preparations, 200-400 mg (approximately 10 mg/Kg) twice a day. However, when such a patient presents to the emergency room (ER) in an asthmatic attack, immediate intravenous theophylline is often given, regardless of maintenance treatment. Since the rationale for this common therapeutic approach has been challenged, the current study was undertaken. Serum theophylline levels were measured in 23 consecutive asthmatics presenting to the ER in an acute attack. 15 (68%) had therapeutic levels (above 10 mcg/ml) and 2 had toxic levels (above 20 mcg/ml), prior to receiving the standard intravenous theophylline dose given for an attack. These data indicate that most patients with bronchial asthma on oral maintenance theophylline do not require additional intravenous theophylline when in an attack. It probably will not benefit them and may even induce serious theophylline toxicity.

International Quality Assurance Standards (ISO 9002) in an Israeli Hospital

Shaul M. Shasha, Noam Goldstein, Abraham Ofek

Western Galilee Hospital, Nahariya and Ofek Institute, Ramat Hasharon

This hospital has been certified by the Israel Standards Institute as having a quality assurance system fulfilling the requirements of the international standard, ISO 9002. This is the first hospital in this part of the world to be certified as fulfilling this standard. Its adoption is one of several accepted approaches to quality assurance in medicine. World-wide, very few health organizations, including hospitals, have implemented this system successfully. Opinions regarding its importance are divided, mostly because of lack of experience in its application. We describe its features, goals and structure, and its implementation in various sectors, including health organizations. The process of its adoption, application and implementation is described, and the problems which arose are discussed.

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.

Volume Reduction Surgery in Emphysema

M.R. Kramer, I. Bar, I. Eidelman, M. Bublil, I. Nitzan, C. Sprung, S. Godfrey, G. Merin

Depts. of Cardiothoracic Surgery and Anesthesiology, and Institute of Pulmonology, Hadassah-University Hospital and Hebrew University-Hadassah Medical School, Jerusalem

Volume reduction surgery (VRS) is a new procedure based on the concept that relieving hyperinflation in emphysema improves diaphragmatic and chest wall mechanics and ventilation perfusion mismatch. We present our early experience with 16 patients who underwent VRS from August 1995 to June 1996. Patient selection was based on: PFT, CT scan, V/Q scan, ABG's and 6-min walk. After pulmonary rehabilitation, operation was by median sternotomy and bilateral lung shaving. Pulmonary function improved significantly. FEV1 increased from 0.68 ± 0.2 to 1.0 ± 0.2 L (p<0.01) and FVC increased from 1.7 ± 0.5 to 2.7 ± 0.5 L (p<0.017). Total lung capacity decreased from 129% ± 24% to 108% ± 20% (p<0.03). 6-min walk increased from 221 ± 90 to 404 ± 123 meters (p<0.001). Complications included 1 death, prolonged air leak in 7 cases and infection in 2. Quality of life improved substantially in 12 of the 16 cases; in 3 cases there was only slight improvement and in 1 the condition became worse. Volume reduction surgery is a promising surgical solution in selected patients with advanced emphysema.