Israel Medical Association Journal

Background: The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi anemia complementation group C gene was mapped to chromosome 9q22.3, but its product function is not sufficiently clear. Both are recessive disorders associated with an elevated predisposition to cancer due to genomic instability. A single predominant mutation of each disorder was reported in Ashkenazi Jews: 2281delATCTGAinsTAGATTC for Bloom syndrome (BLM-ASH) and IVS4+4A®T for Fanconi anemia complementation group C.

Objectives: To provide additional verification of the mutation rate of BLM and FACC[1] in unselected Ashkenazi and non-Ashkenazi populations analyzed at the Sheba Medical Center, and to trace the origin of each mutation.

Methods: We used polymerase chain reaction to identify mutations of the relevant genomic fragments, restriction analysis and gel electrophoresis. We then applied the Pronto^TM kit to verify the results in 244 samples and there was an excellent match.

Results: A heterozygote frequency of 1:111 for BLM-ASH and 1:92 for FACC was detected in more than 4,000 participants, none of whom reported a family history of the disorders. The Pronto^TM kit confirmed all heterozygotes. Neither of the mutations was detected in 950 anonymous non-Ashkenazi Jews. The distribution pattern of parental origin differed significantly between the two carrier groups, as well as between each one and the general population.

Conclusions: These findings as well as the absence of the mutations in non-Ashkenazi Jews suggest that: a) the mutations originated in the Israelite population that was exiled from Palestine by the Roman Empire in 70 AD and settled in Europe (Ashkenazi), in contrast to those who remained; and b) the difference in origin distribution of the BS[2] and FACC mutations can be explained by either a secondary migration of a subgroup with a subsequent genetic drift, or a separate geographic region of introduction for each mutation.

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[1] FACC = Fanconi anemia complementation group C

Background: The association between coronary and/or other arterial aneurysms and polycystic kidney disease is well known. While myocardial infarction is a possible complication of atheroscletotic coronary aneurysms, it is reasonable to assume that CA[1] in patients with PKD[2] may make them prone them for a similar complication.

Objective: To evaluate the possible occurrence of CA and MI[3] in first relatives of a patient with PKD, CA and MI.

Patients: We studied 12 family members: 2 parents, 8 sisters and 2 brothers of a young woman who was incidentally diagnosed as having a MI, while her mother was known to have PKD. We used electrocardiogram, thallium-image test, and transthoracic echocardiography to determine MI, ultrasonography of the kidney to determine PKD, and coronary angiography and ventriculography to determine CA and MI, respectively. 

Results: PKD was detected in seven family members, while CA and MI were found in five and three of them, respectively.

Conclusions: In a family with PKD we detected a high prevalence of CA, with MI as a complication of the latter.

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Background: Acute scrotal pain in children presents a major diagnostic and therapeutic challenge. Epididymitis has been considered uncommon in childhood. The clinical spectrum and therapeutic policy of the acute scrotum in children is continually being reassessed.

Objectives: To determine whether there has been an increase in the incidence of epididymitis in children and to advocate a more selective surgical approach to the acute scrotum.

Methods: We conducted a retrospective review of 65 children admitted to our department of pediatric surgery with the diagnosis of acute scrotum during a 5 year period.

Results: Of the 65 children admitted with the diagnosis of acute scrotum, epididymitis was diagnosed in 42 (64.6%). The remaining cases included torsion of the testis in 12 patients (18.5%), torsion of the appendix testis in 5 (7.7%), scrotal pain and minimal physical findings in 4 (6.1%), and scrotal hematoma and idiopathic scrotal edema in one patient each. Doppler ultrasound of the groin, color Doppler ultrasound of the testis and testicular nuclide scintigraphy (Tc-99m scan) examinations were performed on 49, 30 and 57 occasions, respectively; the Tc-99m scan was the most effective tool. All the patients with epididymitis were diagnosed before surgical intervention and were treated conservatively.

Conclusions: We observed an increasing frequency of epididymitis in children admitted with the diagnosis of acute scrotum.
 

Background: Knowledge of the prevalence of chronic disease in the population is essential for health planners and providers.

Objectives:To present the results of a concentrated effort by the largest health maintenance organization in Israel (Clalit Health Services) in order to develop a comprehensive register of chronic diseases.

Methods: In 1998, all 2,704 primary care physicians in Israel’s largest health provider were requested to report on all patients with selected chronic diseases. In addition, all the filled prescriptions for medications relevant to the investigated diseases and all relevant hospitalization events were added to the database. Prevalence rates were calculated based on the reporting practices only (1,653 physicians responsible for a total of 1,409,725 adults).

Results: Hypertension (10.2/100), diabetes (6.1/100), hyperlipidemia (5.7/100), peptic ulcer (4.7/100) and ischemic heart disease (4.3/100) were the most prevalent. Females had significantly higher rates of hypothyroidism, psychoses, neu­roses and malignancies, and lower rates of ischemic heart disease, chronic obstructive pulmonary disease, heart failure and asthma. Arabs had higher rates of diabetes mellitus and lower rates of ischemic heart disease, hypertension and hyperlipidemia than Jews. About 20% of the adult population had one or more of the selected chronic diseases.

Conclusions: Differences in rates noted between physi­cians, not explainable by population characteristics, may reflect differences in the quality and delivery of health services. Rate differences between demographic subgroups call for further studies on the etiology, susceptibility and natural history of these diseases.
 

Background: Cigarette smoking is a major contributor to the risk of acute myocardial infarction and the subsequent morbidity and mortality. Physicians can play an important role in smoking cessation among patients with AMI because of their frequent contact with the patient during the event.

Objectives: To study the prevalence of smoking, age, localization of coronary occlusion, mortality and rate of smoking cessation in consecutive patients who were diagnosed with a first AMI in our center in 1989–93.

Methods: The study included 1,510 consecutive patients with first AMI: 973 men (512 smokers, 52.6%) and 537 women (215 smokers, 40%), whose mean age was 64.1±6.7 and 68.6±5.2 years respectively.

Results: The median age at the first AMI in non-smoking and smoking men differed significantly (70.4±6.8 vs. 56.6±6.1 years, P<0.001) while the difference in the women was smaller (70.4±6.9 vs. 66.8±7.2). The proportion of smokers/non-smokers among men was greater at a younger age and decreased proportionally with age. The overall mortality was 11.3% with a significant difference in mortality rate in the younger age groups between smokers and non-smokers (1% vs. 0% in the age group 31–40 years, P<0.05, and 6.1% vs. 0.8% in the 41–50 year age group, P<0.001). Only 62% of the smokers who survived the AMI declared that they had received anti-smoking advice from a physician during hospitalization. The cessation rate in this group was significantly higher than in smokers who had not been cautioned against smoking (56% vs. 18%).

Conclusions: Current smokers sustained their first AMI more than one decade earlier than non-smokers, and the younger smokers had a higher mortality rate. The majority of the smokers who received anti-smoking advice during their hospitalization for AMI quit smoking in the year following the acute event. 

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AMI= acute myocardial infarction

Background: Multiple organ injury in children is an increasingly frequent phenomenon in the modern emergency room. Adrenal hemorrhage associated with this type of trauma has received little attention in the past.

Objectives: Using computed tomography, we sought to determine the rate and nature of adrenal gland injury in children following blunt abdominal trauma due to motor vehicular accident.

Methods: A total of 121 children with blunt abdominal trauma were examined and total body CT was performed in cases of multi-organ trauma or severe neurological injury.

Results: Of all the children who presented with blunt abdominal trauma over a 51 month period, 6 (4.95%) had adrenal hemorrhage. In all cases only the right adrenal gland was affected. Coincidental injury to the chest and other abdominal organs was noted in 66.7% and 50% of patients, respectively.

Conclusions: Traumatic adrenal injury in the pediatric population may be more common than previously suspected. Widespread application of the more sophisticated imaging modalities available today will improve the detection of damage to the smaller organs in major collision injuries and will help in directing attention to the mechanism of trauma.