Israel Medical Association Journal

Behavioral genetics is the identification of behavioral traits that are genetically determined, the identification of the genes that are involved, and the discovery of modes of intervention to alter the expected course of the disease. Unlike the classical Mendelian traits, many specific aspects of behavior are, in part, determined by several genes. The corresponding abnormalities of behavior or deficiencies are therefore polygenic. New genetic techniques are leading to the discovery of these genes, and the techniques and knowledge developed in the Human Genome Project make it possible to screen the genome of any individual for the presence of known polymorphisms. This raises great hopes for diagnosis and the individualization of therapy. However, the genetic prediction of unacceptable behavior can further lead to social and occupational discrimination and enforced therapy. This raises serious concerns about how this information will be collected and who will have access to it.

Background: An increased risk of developing cancer of the skin is the only potentially serious (albeit unproven) long-term side effect of heliotherapy and it is therefore prudent to avoid unnecessary exposure to solar ultraviolet radiation. Traditional heliotherapy for psoriasis at the Dead Sea calls for a sun exposure of 5–6 hours daily for 28 days. Studies have determined that mid-summer exposure for 3 hours is equally effective.

Objectives: To determine the effect of 3 hours sun exposure daily in the heliotherapy of psoriasis at the Dead Sea during the months March to December; and to monitor the associated ambient doses of solar UVB[1] radiation.

Methods: A total of 194 patients with moderate to severe psoriasis was treated in the months of March-December by 3 hours of sun exposure each day. The dose of ambient solar UVB was monitored by a Solar Model 501A UVB-Biometer.

Results: Three hours of sun exposure daily was therapeutically efficacious in all months from March to November, but not in December. The lowest effective cumulative UVB dose was 170 standard erythema dose, recorded in March and November.

Conclusions: Daily sun exposure for the heliotherapy of psoriasis at the Dead Sea can be reduced to at least 3 hours daily, about half the time originally recommended.

Background: Current clinical guidelines restrict catheterization laboratory activity without on-site surgical backup. Recent improvements in technical equipment and pharmacologic adjunctive therapy increase the safety margins of diagnostic and therapeutic cardiac catheterization.

Objective: To analyze the reasons for urgent cardiac surgery and mortality in the different phases of our laboratory’s activity in the last 11 years, and examine the impact of the new interventional and therapeutic modalities on the current need for on-site cardiac surgical backup.

Methods: We retrospectively reviewed the mortality and need for urgent cardiac surgery (up to 12 hours post-catheterization) through five phases of our laboratory’s activity: a) diagnostic (years 1989–2000), b) valvuloplasties and other non-coronary interventions (1990–2000), c) percutaneous-only balloon angioplasty (1992–1994), d) coronary stenting (1994–2000), and e) use of IIb/IIIa antagonists and thienopiridine drugs (1996–2000).

Results: Forty-eight patients (0.45%) required urgent cardiac surgery during phase 1, of whom 40 (83%) had acute coronary syndromes with left main coronary artery stenosis or the equivalent, and 8 (17%) had mechanical complications of acute myocardial infarction. Two patients died (0.02%) during diagnostic procedures. In phase 2, eight patients (2.9%) were referred for urgent cardiac surgery due to either cardiac tamponade or severe mitral regurgitation, and two patients (0.7%) died. The combined need for urgent surgery and mortality was significantly lower in phase 4 plus 5 as compared to phase 3 (3% vs. 0.85%, P = 0.006).

Conclusion: In the current era using coronary stents and potent antithrombotic drugs, after gaining experience and crossing the learning curve limits, complex cardiac therapeutic interventions can safely be performed without on-site surgical backup.
 

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.

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.

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.

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.

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.