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: 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.

Patients with a compromised immune system suffer a wide variety of insults. Interstitial lung changes are one of the most common and serious complications in this group of patients. The morbidity rate reaches 50% and up to 90% if endotracheal intubation and mechanical ventilation are necessary. Opportunistic and bacterial infections are common causes of pulmonary infiltrates and must be distinguished from other conditions such as drug reactions, volume overload, pulmonary hemorrhage, and malignant diseases. Accurate and prompt diagnosis of potentially treatable causes can be life-saving. Non-invasive diagnostic methods for evaluation are often of little value, and an invasive procedure - such as bronchoalveolar lavage, transbronchial biopsy or even open lung biopsy - is therefore performed to obtain a histologic diagnosis. Yet, even when a specific diagnosis is made it may not improve the patient’s survival. Numerous textbook and review articles have focused on the management of this condition. The present review attempts to provide a comprehensive and systematic picture of current knowledge and an integrated approach to these challenging patients.

Patients with diabetes and/or insulin resistance syndrome are at increased risk for developing cardiovascular disease. The UKPDS raised a great debate about the relative importance of hyperglycemia in the development of cardiovascular disease. Recently, several epidemiologic studies have suggested that high postprandial blood glucose levels are associated with a significant risk for the development of cardiovascular disease as well as a grave prognosis for these patients during acute coronary events. In addition, a number of reports reinforce the thesis that postprandial hyperglycemia is a risk factor for mortality. Our review summarizes the current knowledge on the relation between blood glucose, insulin levels, and cardiovascular morbidity and mortality, relating these data to the new World Health Organization and American Diabetes Association classification of disturbed glucose metabolism.