תוצאת חיפוש

Treatment of Phenyl-Ketonuria due to Dihydropteridinereductase Deficiency 

B. Sela, J. Blonder, I. Peled, G. Schwartz

Institute for Pathological Chemistry and Child Development, Sheba Medical Center, Tel Hashomer; Clinical Biochemistry Dept., Sackler Faculty of Medicine, Tel Aviv University

Most cases of hyper-phenylalaninemia are due to deficiency of phenyl-alanine hydroxylase that converts phenyl-alanine to tyrosine. This enzymic reaction is facilitated by the co-factor tetrahydrobiopterin (BH₄). A defect in the latter substrate leads to increased phenyl-alanine in 1-2 cases per million live births. Such cases are characterized by a degenerative brain process, and pronounced neurologic symptoms that cannot be prevented by a low phenyl-alanine diet alone.

In 3 male newborns a deficiency of dihydropteridine reductase (DHPR) activity was diagnosed, the last in a sequence of 3 enzymes involved in the formation of BH₄. Successful outcome of treatment as well as the results of failure to diagnose and treat affected newborns are described, with emphasis on the logistic problems involved in mass screening.

Laparoscopic Ultrasound in Predicting Resectability of Choriocarcinoma

M. Shimonov, P. Schachter, G. Gvirtz, Y. Avni, A. Rosen, A. Czerniak

Depts. of Surgery, Ultrasound, and of Gastroenterology, Wolfson Medical Center, Holon and Sackler Faculty of Medicine, Tel Aviv University

Cholangiocarcinoma accounts for about 1% of all malignant tumors. They are difficult to diagnose because of their small size and their location. Although surgical resection is the best therapeutic approach, most patients undergo unnecessary exploratory laparotomy due to incorrect preoperative diagnosis.

We present our experience with laparoscopic ultrasound (LU) in the evaluation of cholangiocarcinoma and determination of tumor spread and vascular involvement. Of 25 patients referred for surgery, 6 were excluded following LU and were referred instead for palliative treatment. Diagnosis of the tumor was successful in 92%, and vascular involvement was diagnosed in 46%. LU should be an integral diagnostic test in the evaluation of choriocarcinoma.

Evaluation of Laparoscopy and Laparoscopic Ultrasound in Pancreatic Lesions

P. Schachter, Y. Avni, A. Rosen, A. Czerniak

Depts. of Surgery A and of Gastroenterology, Wolfson Medical Center, Holon

Pancreatic lesions present a diagnostic challenge. Even modern imaging techniques are not sensitive enough in determining resectability of pancreatic tumors. A substantial proportion of patients therefore undergo unnecessary surgical exploration. We determined the impact of laparoscopy and laparoscopic ultrasound (LAPUS) examinations on surgical decision-making in 60 patients with pancreatic lesions.

Of 48 with solid pancreatic lesions, 22 were defined by LAPUS as having nonresectable tumors, while conventional imaging studies defined only 9 of them as such. 3 of these 9 underwent successful resections of the pancreatic mass. Surgical intervention was ruled out by LAPUS in 16 patients (33.3%) but 26 had resectable lesions of whom 25 underwent surgery. 3 of this group were found to have nonresectable tumors at surgery, a false-positive rate of 6.2%. Overall sensitivity of LAPUS in our series was 88%.

In 12 patients with cystic pancreatic lesions LAPUS contributed significantly to the preoperative decision due to clear imaging of the cystic lesion. Additional information was obtained from ultrasound guided-biopsy of the cyst wall, as well as determination of tumor-marker levels in the cystic fluid aspirate. LAPUS contributed significantly to operative management in 58%.

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.

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."

Trisomy 18 Anomalies on Sonography and Calculated Risk of Chromosomal Abnormalities During First Trimester

Ron Maymon, Arie Herman, Eli Dreazen, Mati Glasner, Zvi Weinraub

Ultrasound Unit, Dept. of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Zrifin, and Sackler School of Medicine, Tel Aviv University; and Women's Health Center, Kupat Holim, Holon Branch, Tel Aviv-Jaffa District

Trisomy 18 is a chromosomal disorder giving multiple anomalies. Its frequency depends on maternal age. We report a 28-year-old woman in her first pregnancy, who underwent first trimester scanning for screening. Due to increased nuchal translucency and exomphalos, chorionic villous sampling was performed. Cytogenetic diagnosis was trisomy 18 and termination of pregnancy was carried out immediately.

Percutaneous Ablation of Malignant Kidney Tumors in Rabbits by Low Frequency Radio Energy

Boaz Moskovitz, Ofer Nativ, Edmond Sabo, Yousef Barbara, Daniel Mordohovich, Yoseph Kaftori, Arie Shalhav, Benad Goldwasser

Bnai-Zion Medical Center and Bruce Rappaport Faculty of Medicine, The Technion, Haifa

Radio-frequency (RF) current has been used successfully to ablate normal human tissue. To investigate further the clinical application of this modality in tumors, we studied the potential of using RF percutaneously to destroy experimental kidney tumors. 35 outbred albino rabbits underwent direct-implantation of renal VX2 tumor during open surgery. After 21 days, ultrasonography was performed to show tumor presence and size. A shielded RF needle was designed to be inserted percutaneously through an introduction needle. An electrical insulation shield covering the RF needle was retractable, controlling the length of exposure of the RF needle inside the tissue. 22 days after tumor implantation, RF was applied via this special needle using a ZoMed International RF generator. In one group of rabbits the procedure was performed under direct vision during open surgery, while in another group treatment was percutaneous, the needle guided by palpation of the tumor. Rabbits were killed 3 days later and revealed 4-25 mm intra-tumoral RF-induced lesions. A direct relation was found between lesion size and the power and duration of RF applied (at 7.5 W, R=0.48, and P=0.32). Based on our preliminary results we can conclude that RF may have clinical applications in the near future for percutaneous local tumor control in parenchymal organs.

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.

Salivary Gland Endoscopy: a New Technique for Diagnosis and Treatment of Sialolithiasis

O. Nahlieli, A.M. Baruchin, H. Librus, D. London

Oral and Maxillofacial Surgery Unit, Plastic Surgery Service and Radiology Institute, Barzilai Medical Center, Ashkelon

The use of an endoscopic, minimally invasive technique for the removal of salivary gland stones from the submandibular or parotid duct is described. A 2.0-2.7 mm endoscope is inserted into an incision in the parotid or submandibular duct. When the stone is visualized through the endoscope it is removed using suction and forceps. We used this technique in 45 cases for removal of calculi, screening the ductal system to rule out residual calculi. and determination of ductal dilatation. The success rate was 80% and there were no major postoperative complications. To the best of our knowledge these are the first such cases reported in Israel.