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עמוד בית
Wed, 27.11.24

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February 2003
Y. Nevo, F. Muntoni, C. Sewry, C. Legum, M. Kutai, S. Harel and V. Dubowitz

Background: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD[1]) phenotype.

Objectives: To describe unusual cases with large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype

Methods: Screening for dystrophin gene deletion was performed on genomic DNA by using multiplex polymerase chain reaction. Needle muscle biopsies from the quadriceps were obtained using a BergstrÖm needle. The biopsies were stained with histologic and histochemical techniques as well as monoclonal antibodies to dystrophin 1, 2 and 3.

Results: In three children with large in-frame deletions of the rod domain (exons 10–44, 13–40 and 3–41), early-onset weakness and a disease course suggested the DMD[2] phenotype.

Conclusions: This observation emphasizes the uncertainty in predicting the Becker phenotype in a young patient based on laboratory evaluation, and that the clinical picture should always be considered.






[1] BMD = Becker muscular dystrophy



[2] DMD = Duchenne muscular dystrophy


E. Gal, G. Abuksis, G. Fraser, R. Koren, C. Shmueli, Y. Yahav and Y. Niv

Background: The 13C-urea breath test is the best non-invasive test to validate Helicobacter pylori eradication. Serology is unreliable for this purpose due to the slow and unpredictable decline in the antibodies titer.

Objectives: To characterize a specific group of patients who were treated for H. pylori and tested for successful eradication by 13C-UBT[1] in our central laboratory and to correlate the eradication success rate with specific drug combinations, and to evaluate other factors that may influence eradication success.

Methods: 13C-UBT for H. pylori was performed in the central laboratory of Clalit Health Services. The breath test was performed by dedicated nurses in 25 regional laboratories and the samples were analyzed by a mass spectrometer (Analytical Precision 2003, UK). The physician who ordered the test completed a questionnaire computing demographic data (age, gender, origin), indication, use of non-steroidal anti-inflammatory drugs or proton pump inhibitor, and combination of eradication therapy.

Results: Of the 1,986 patients tested to validate successful H. pylori eradication, 539 (27%) had a positive test (treatment failure group) and 1,447 (73%) had a negative test (successful treatment group). Male gender, older age and European-American origin predicted better eradication rates. Dyspeptic symptoms and chronic PPI[2] therapy predicted treatment failure. Combination therapy that included clarithromycin had a higher eradication rate than a combination containing metronidazole. The combination of omeprazole, amoxicillin and clarithromycin achieved an eradication rate of 81.3%, which was better than the combination of omeprazole, metronidazole and clarithromycin (77.2%) (not significant), or of omeprazole, amoxicillin and metronidazole (66.1%) (P < 0.01).

Conclusion: Gender, age, origin, dyspepsia and PPI therapy may predict H. pylori eradication results. Our findings also support an increase in metronidazole resistance of H. pylori strains in Israel, as described in other countries. We recommend combination therapy with omeprazole, amoxicillin and clarithromycin and avoidance of metronidazole as one of the first-line eradication drugs.






[1]13C-UBT[1]  = 13C-urea breath test



[2] PPI = proton pump inhibitor


D. Lev-Chelouche, B. Sagie, A. Keidar, J. M. Klausner and A. Szold

Background: Developments in laparoscopic surgery have rendered it an efficient tool for many complex surgical procedures. In the last few years, laparoscopic adrenalectomy has become a more viable option for removal of adrenal pathology, with many surgeons preferring it to the conventional open technique.

Objectives: To describe the indications, technique, complications and follow-up of patients undergoing laparoscopic adrenalectomy in our department.

Methods: The hospital files of 30 patients who underwent the procedure were reviewed. There were 19 females and 11 males with a mean age of 45 years. Indications for surgery differed and included hypersecreting adenoma, pheochromocytoma, suspected malignancy, and incidentaloma.

Results: Of the 31 laparoscopic adrenalectomies performed, 11 were right, 18 were left, and 1 was bilateral. The conversion rate to an open procedure was 3%. The mean duration of procedure was 120 minutes. Only one patient required blood transfusion. Complications occurred in 20% of patients, all reversible. There was no mortality. Mean hospitalization duration was 3.4 days, and median follow-up 17 months. There were no late complications. All patients operated on for benign diseases are alive.

Conclusions: Laparoscopic adrenalectomy appears to be a useful tool for the treatment of a range of adrenal pathologies.

I. Bar, T. Friedman, E. Rudis, Y. Shargal, M. Friedman and A. Elami

Background: Fractures of the stemum may be associated with major injuries to thoracic organs, with serious consequences.

Objective: To assess the hospital course of patients diagnosed with isolated sternal fracture.

Methods: We reviewed 55 medical records of patients who were admitted with isolated sternal fracture to the emergency department during the period from January 1990 through August 1999.

Results: Fifty-one patients were involved in motor vehicle accidents, and the remainder sustained the injury as a result of a fall. Lateral chest X-ray upon admission was diagnostic in the majority of these patients (n=53). Electrocardiography (n=52) was abnormal in four patients – old myocardial infarction (n=1), non-specific ST-T changes (n=3). Cardiac enzymes (creatine-kinase-MB, n=42) were pathologically elevated in five patients. Echocardiography, performed in patients with ECG[1] abnormalities and/or elevated myocardial enzymes (n=7), was normal in these patients as well as in another 18 patients. There were no intensive care unit admissions or arrhythmias during the hospital stay, which ranged from 6 hours to 6 days (mean 2.3 ± 1.3 days, median 2 days).

Conclusion: Our findings support the view that patients with isolated sternal fracture, who have no abnormality in ECG and cardiac enzymes during the early hours after injury, are expected to have a benign course and can be discharged home from the emergency room within the first 24 hours.






[1] ECG = electrocardiograph


N. Horowitz, M. Kapeliovich, R. Beyar and H. Hammerman

Background: Coronary stenting was recently introduced as a primary intervention for acute myocardial infarction. Several randomized controlled studies have shown that stenting may be superior to balloon angioplasty for the treatment of AMI[1]. However, routine stenting may also cause deterioration of coronary flow.

Objective: To analyze the clinical characteristics and the outcome of patients who were treated with stenting for AMI in our center in the recent era of stenting.

Methods: Fifty-five patients with AMI were treated by stent implantation between January 1998 and December 1999. Adverse clinical events were recorded, including death, recurrent infarction, coronary artery bypass grafting, cerebrovascular accident, and target vessel revascularization. In-hospital, 1 month, 6 month and 1 year follow-up was performed in all patients. Repeated coronary angiography was performed according to clinical indications.

Results: Baseline angiographic results showed Thrombolysis in Myocardial Infarction (TIMI) 0 flow in 39 patients (70.9%), TIMI I flow in no patient and TIMI II/III flow in 16 patients (29.1%). TIMI grade 3 flow was achieved in 90.9% of patients at the end of the procedure. In-hospital mortality rate was 5.4% (2.1% in patients without cardiogenic shock). There was no evidence of re-infarction or TVR[2]. The rates of bleeding complication (all of them minor), CVA[3], and CABG[4] were 9.1%, 3.6% and 1.8% respectively. The 6 month mortality rate remained the same. Rates of re-infarction, restenosis, TVR and CABG were 3.6%, 14.5%, 14.5% and 5.4% respectively. The 1 year mortality rate was 7.3%. Restenosis rate was 18% and CABG 7.3%. One year event-free survival was 70.9%.

Conclusions: This study suggests that stenting is a safe and effective mode of therapy in the setting of AMI associated with a high rate of revascularization and a low short and long-term outcome.






[1] AMI = acute myocardial infarction



[2] TVR = target vessel revascularization

[3] cerebrovascular accident



[4] CABG = coronary artery bypass grafting



 
M. Oberbaum, N. Notzer, R. Abramowitz and D. Branski

Background: Complementary medicine is gaining popularity, yet medical school curricula usually ignore it.

Objectives: To determine whether senior medical students are interested in learning principles of complementary or alternative medicine, to check their degree of familiarity with it, and to suggest a format for such studies in the medical curriculum.

Methods: Senior medical students (n = 117) were surveyed by an anonymous questionnaire.

Results: Seventy-nine percent of the senior medical students were interested in studying complementary or alternative medicine in medical school, and 65% were interested in applying these techniques to treat patients. Eighty-seven percent of students were familiar with some techniques of complementary medicine.

Conclusions: Senior medical students are interested in studying complementary and alternative medicine in medical school and in applying these techniques in practice.
 

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