תוצאת חיפוש

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.

Apomorphine for "Off-Periods" in Parkinson's Disease

J. Zoldan, D. Merims, A. Kuritzky, I. Ziv, E. Melamed

Dept. of Neurology, Rabin Medical Center, Beilinson Campus, Petah Tikva and Sackler Faculty of Medicine, Tel Aviv University

After 3-5 years of continuous use of 1-dopa preparations for Parkinson's disease, 25%-50% of patients develop side-effects such as the "on-off" phenomenon and involuntary movements that markedly impair function. One cause of these manifestations is evidently a disturbance in the absorption of 1-dopa.

We attempted to avoid this problem by using subcutaneous injections. Apomorphine is a rapid-acting dopamine agonist which causes a return from "off" to "on" within minutes.

We present the results of a trial of subcutaneous injections of apomorphine in 22 Parkinsonian patients (12 males, 10 females) with severe motor fluctuations. During 5 days prior to the apomorphine all received Motilium (domperidone, 60 mg/d) to prevent nausea and vomiting. All were hospitalized initially to determine optimal dosage and to teach them the technique of self-injection.

2 to 4 mg of apomorphine were injected 1 to 3 times daily for 2 to 12 months. In 17 patients (80%) "off" periods were reduced without significant side-effects. Apomorphine seems to be effective, tolerable treatment for shortening 1-dopa induced "off" periods.

Tension-Free Vaginal Tape Procedure for Female Stress Incontinence

David Gordon, Asnat Groutz, Joseph Lessing

Lis Maternity Hospital, Sourasky-Tel Aviv Medical Center

We evaluated the safety and efficacy of the tension-free vaginal tape procedure (TVT) in 20 consecutive women with urodynamically proven genuine stress incontinence. Mean operating time under spinal analgesia was 37.2‏13 minutes and 80% were discharged within 24 hours. There were 5 uncomplicated, intraoperative bladder perforations, but no defects in healing nor tape rejection. The objective cure rate was 95%, while the subjective rate was 100%. Although follow-up was short (9-16 months), the TVT method seems to be safe and effective for stress urinary incontinence.

Low Prevalence of Hepatitis G Infection in Dialysis Patients

Doron Zamir, Shimon Shtorch, Chen Zamir, Zvi Fireman, Hilkiau Zonder

Internal Medicine Dept. A, Liver Clinic, Dialysis Unit and GI Unit, Hillel Yaffe Hospital and Hadera Subdistrict Health Office

Prevalence of hepatitis G virus (HGV) infection in the general western population ranges from 0.2-1.5%. In high-risk groups, such as patients with chronic liver disease, hematologic disorders and drug addicts, prevalence is as high as 10%-15%. Dialysis patients have increased rates of HGV infection (6%-50%).

We evaluated prevalence of HGV infection among dialysis patients, and the association between HGV infection and hepatitis C virus (HCV) infection. Serum samples were screened for HGV infection by RT-PCR. Screening for HCV infection was performed by an EIA test and confirmed by RIBA and RT-PCR for HCV. Sera were also tested for HBV markers.

The study group included all 78 hemodialysis patients and 7 of the 12 peritoneal dialysis patients in our unit during September to November 1997. 4 (5.2%) were HGV-positive but none were peritoneal dialysis patients. 1 of the 12 HCV-positives was also infected with HGV. HGV infection was not associated with duration of dialysis, number of blood transfusions or levels of transaminases.

Prevalence of HGV infection among our hemodialysis patients was low (5.2%), but higher than reported for the general population. Prevalence of HGV/HCV infection in hemodialysis patients was low and unrelated to duration of dialysis, number of blood transfusions and levels of transaminases.

Screening for Down's Syndrome by Measuring Fetal Nuchal Translucency Thickness

Ron Maymon, Eli Dreazen, Zwi Weinraub, Ian Bukovsky, Arie Herman

Ultrasound Unit, Dept. of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Zerifin, and Sackler Faculty of Medicine, Tel Aviv University

Increased fetal muchal translucency (NT) thickness at 10-14 weeks of gestation may indicate underlying fetal chromosomal abnormalities, anatomical anomalies and genetic syndromes. Between January 1997 and May 1998, 1400 women 10-14 weeks pregnant underwent sonographic screening for detection of Down's syndrome (DS). Follow-up was complete in 1208 (86%).

Maternal age ranged from 17-44 years (mean 18.0). 87% were found by screening to have a higher risk (1:380) for DS diagnosed at birth. All these fetuses were karyotyped and 8 had chromosomal abnormalities. 2 fetuses with normal NT were diagnosed later as having DS, 1 by the mid-gestation triple test and 1 by amniocentesis because of advanced maternal age.

Thus sonographic screening identified 8 out of 10 fetuses found to have chromosomal abnormalities at birth. Neonates not karyotyped before birth had no traits at birth that justified chromosomal analysis. Results of this study suggest that NT measurement, combined with maternal age, is an effective 1st trimester screening method for DS in an unselected obstetric population.

Evaluation of Clinical Findings in Occupational Health Examinations

Rafael Carel, Eynat Scheiner

Dept. of Occupational Medicine, Kupat Holim, Negev Region and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Findings in occupational health examinations of a regional service are analyzed. The service provides pre-employment, surveillance and work-capacity evaluations for about 150,000 workers from many types of work-sites and occupations. The average number of pre-employment examinations (during 1993-97) was 4,800/year, and there were relevant pathological findings in about 6.6%. Most findings involved the respiratory (11%) and cardiovascular systems (10%) or eyes (10%).

The average annual number of surveillance system examinations was 10,750. There were relevant findings in about 16%, mainly of the respiratory system (17%) and noise-induced hearing damage (about 80%).

Work-capacity examinations constituted about 35% of the work-load (9,250 examinees/year). In 53% a significant health problem affecting an individual's job performance was identified. Pathological findings were found in the musculoskeletal (21%), cardiovascular (7.5%), respiratory (3%), and neurological systems (2%).

Occupational health examinations can identify areas in which prevention and intervention or cooperation with other medical specialties are indicated, as well as specific topics requiring further training of occupational physicians.

Plication of Diaphragm for Postoperative, Phrenic Nerve Injury in Infants and Young Children

Yael Refaely, David A. Simansky, Michael Paley, Alon Yellin

Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University

Paralysis of the diaphragm may cause life-threatening respiratory distress in infants and young children because of paradoxical motion of the affected diaphragm and contralateral shift of the mediastinum during expiration. Phrenic nerve injury (PNI) may follow chest operations.

10 children with diaphragmatic paralysis and severe respiratory distress underwent plication of the diaphragm. Ages ranged from 14 days to 5 years. 9 had PNI after operations for congenital heart disease and 1 after resection of an intraspinal cervical lipoma. The right side was affected in 7, the left in 3.

Indication for surgery was inability to wean from mechanical ventilation, which had ranged from 11 to 152 days (median 35). 8 underwent plication via a thoracic approach and 2 via an abdominal approach. There were no complications directly related to the operation.

The interval from plication to weaning from mechanical ventilation ranged from 2 to 140 days (median 4). 1 patient died 2 hours after plication due to severe heart failure and 2 after prolonged hospitalization due to sepsis and multi-organ failure. 6 were extubated 2-8 days (median 4) after plication and 1 only after 40 days.

Early diaphragmatic plication is simple and avoids more serious surgery. While effective in ventilator-dependent infants and young children, it should not be used in those with multi-organ failure. Early plication may prevent the complications of prolonged mechanical ventilation.

Tension-Free Vaginal Tape: A New Surgical Treatment of Female Urinary Stress Incontinence

M. Neuman, B. Zuckerman, M. Zilberman, A. Farkash, U. Beller

Division of Gynecologic Surgery and Oncology, Shaare Zedek Medical Center, Jerusalem

Female urinary stress incontinence diminishes the quality of life of about 5% of women. It is usually dealt with by surgery to correct the relaxed pelvic floor, the cause of the incontinence.

Tension-free vaginal tape is used in a newly described procedure. It consists of the vaginal introduction of a prolene needle-guided mid-urethral sling. The procedure is easy to perform under local anesthesia, recovery is rapid, and results are similar to those of other effective operations.

We report 44 patients who underwent this type of surgery. There were no significant complications. The early results were good and although the follow-up has been short, we believe that experience with this operation will play an important role in the treatment of urinary stress incontinence.

Measuring Residual Urine by Portable Ultrasound Scanner

Santiago Richter, Rachel Hag'ag, Moshe Shalev, Israel Nissenkorn

Urology Dept. and Outpatient Clinic, Meir Hospital, Kfar Saba and Sackler Faculty of Medicine, Tel Aviv University

Urethral catheterization, the standard method of measuring residual urine, is uncomfortable and associated with risk of infection and trauma to the urethra. It has also been reported as inaccurate to a certain extent. We compared catheterization with ultrasound scanning in a prospective study of 52 men and 3 women.

100 measurements of postvoiding residual urine by portable ultrasound scanner, were each followed immediately by urethral catheterization (both procedures performed by an experienced nurse in our outpatient clinic). A difference of >25€ml between measurements by scanner and by catheter was considered significant.

The range of residual urine measured by scanner was 1-425 ml, and by catheter 1-410 ml. There was good matching between the 2 methods in 85 of 100 measurements (scanning accuracy 85%). In 30/85 matching was excellent while in 55 cases the mean difference was 8.5±6.2 ml, range 1-24 ml. The accuracy of scanning was 85%; there was perfect matching between the 2 methods in 30 cases. In the remaining 15 cases the mean difference was 41.8±13.6 (range 25-56).

Each catheterization took 4-5 minutes and scanning 30 seconds. There were no complications after catheterization, but all reported discomfort and dysuria for 1-2 hours thereafter. Scanning was absolutely uneventful in all.

The cost per catheterization, including medication, disposable materials and personnel time was approximately 80 NIS. Our 80-90 measurements of residual urine a month require annually about 80 hours and a budget of about NIS 80,000. Scanning requires only 8 hours, while the cost of the portable scanner is significantly less than NIS 80,000 and it can be used for more than a year.

We conclude that measuring urine residual with the noninvasive scanner instead of by catheterization is easier, more accurate, and more cost-effective.

Sonographic Demonstration of a Levonorgestrel-Releasing LUD

Yaron Zalel, Doron Kreizer, David Soriano, Reuven Achiron

Ultrasound Unit, Obstetrics and Gynecologic Dept., Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

Mirena, a new intra-uterine device (IUD) introduced in Israel during the past year, releases 20 mcg/day of levonorgestrel for 5 years. It has the advantages of reduced pregnancy rates and diminished menstrual blood loss, together with a low risk of pelvic inflammatory disease compared with current IUD's.

It has a typical sonographic appearance, differing from that of regular IUD's, which was demonstrated in all 15 women examined in this study. Its sonographic appearance includes both proximal and distal ends of the vertical arm of the device, which extend into the internal cervical os and fundal region, respectively. Acoustic shadowing between both ends defines the location of the device, which should help avoid consultations due to "lost IUD's."

Pelvic Floor Exercise and Biofeedback in Genuine Stress Incontinence

D. Gordon, D. Luxman, Y. Sarig, A. Groutz

Women and Children's Division, Liss Hospital, Sourasky-Tel Aviv Municipal Medical Center and Sackler Faculty of Medicine, Tel Aviv University

Stress urinary incontinence is a medical and social problem. In the past decade there has been increased awareness of this condition and the number of those affected who seek help is increasing. Treatment is usually surgical - elevation of the bladder neck. Pelvic floor exercise is an accepted conservative treatment modality used for mild to moderate cases that have not yet completed their families.

We present our results in 30 women, aged 28-71 years, av. 49% with genuine stress incontinence treated with pelvic floor exercise and biofeedback. 14 patients (46.7%) were completely cured and 15 (50%) were improved. In only 1 was there no improvement.

Our results show significant improvement in the duration and intensity of pelvic floor contractions after treatment. Pelvic floor exercise with biofeedback is a very important treatment modality, requiring a highly motivated patient and a physiotherapist specialized in pelvic floor exercise.

Plagiocephaly in Children: Etiology, Differential Diagnosis and Helmet Treatment

A. Margulis, V. Hatuel, A. Weinberg, A. Neuman, Z. Israel, M.R. Wexler

Depts. of Plastic Surgery, Occupational Therapy, and Neurosurgery, Hadassah University Hospital, Jerusalem

Plagiocephaly in a head-and-neck irradiated rat model or rhomboid-shaped head, occurs in at least 1 in 300 live births. In most cases such asymmetry is not caused by synostosis of the unilateral coronal or lambdoid sutures, but is rather a deformity produced by intrauterine and/or postnatal deformational forces. Categorization and diagnosis of plagiocephaly as synostotic or deformational is reliably made by physical examination and computerized tomography. Its differential diagnosis is extremely important because prompt surgical correction is usually indicated for the synostotic type. In contrast, infants with deformational frontal or occipital plagiocephaly generally respond to helmet treatment.

10 infants with significant deformational plagiocephaly were treated with individual plastic helmets during the past 2 years and 4 other infants with plagiocephaly are currently being treated. In each instance, cranial asymmetry dramatically improved as the brain grew and the head filled out the helmet. There were no significant complications. Awareness of deformational plagiocephaly allows more accurate diagnosis and appropriate treatment, avoiding unnecessary surgical intervention in patients with positional molding.

Exhaustion of Motor Cortex after Head Injury Revealed by Trans-Cranial Magnetic Stimulation

M. Elron, G. Levi, M. Trovnick, J.F. Soustiel, H. Hafner, A. Chistyakov, M. Feinsod

Center for Treatment and Applied Research in Head Injury, Dept. of Neurosurgery, Rambam Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa

We evaluated the pattern of motor evoked potentials elicited by single-pulse and slow-rate (1 Hz) repetitive, transcranial, magnetic stimulation (RTMS) in minor head injuries. The motor response to a single magnetic stimulus in patients with minor head injury was characterized by a significantly higher threshold than in healthy subjects. However, central and peripheral motor conduction was normal in all patients. A stable pattern of MEP throughout the RTMS session was the most prominent feature in the control group. A progressive decrease in MEP amplitude and irregular alternation of large and very small MEPs over the course of RTMS was observed in minor head injury. The higher threshold of the motor response and the abnormal patterns of MEP behavior revealed by RTMS may reflect impaired excitability and enhanced exhaustion of the motor cortex in patients with minor head injuries, which improve with time.

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.

Legionellosis in Israel

Ida Boldur, Silviu Hoffmann, Regina Kazak, Batzion Benjamin

Institute of Microbiology, Assaf HaRofeh Medical Center, Zrifin and Dept. of Life Sciences, Bar-Ilan University, Ramat Gan

Infection with Legionella remains an important cause of disease and death. We analyzed our laboratory data from 1993 through 1997, augmented by our 20 years of experience. The incidence of Legionella as a cause of pneumonia varied in our study from 5%-9%, with a slight increase during the winter. Isolation of these microorganisms from different water sources was higher during the summer and ranged from 7%-70%.

Special laboratory tests are necessary to diagnose the disease and monitor these bacteria in water samples. The serologic method - indirect immunofluorescent assay -- for 41 serogroups of Legionella was the main diagnostic method used. Legionella sg. 1 was the most frequent cause of the disease, with an incidence of 52% in 1993, decreasing to 15% in 1997. An increase in the incidence of seropositivity to "other Legionellae" is characteristic for our country.

No correlation was found between the incidence of isolation of a specific strain and exposure. However, it is well known that the disease is overtreated but underdiagnosed, which requires reversal. Larger studies of Legionella colonization in water supplies and in air are needed in order to establish the risk of infection. Water sources are presently under-studied, as are respiratory devices in hospitals, or they are not studied at all in Israel, such as in mist machines in supermarkets, in dental clinics, and in ships and airplanes.