Israel Medical Association Journal

Background: Cystic fibrosis is the most common life-limiting autosomal recessive genetic disorder in Caucasians. Typically it is a multisystem disease diagnosed by increased chloride levels on sweat testing, with mortality due mainly to progressive respiratory disease. The clinical spectrum of CF has recently been much expanded.

Genetic testing for mutant CF transmembrane regulator has revealed atypical cases where sweat test results are borderline or normal. In other patients, genetic mutations cannot be identified but abnormal CFTR function is shown using nasal potential difference measurement.

Objectives: To highlight the diagnostic and therapeutic dilemmas in cases of atypical cystic fibrosis.

Methods: We reviewed patients with atypical CF and widely varying phenotype who are managed at Schneider Children’s Medical Center of Israel. 

Results: Two patients had severe lung disease but little expression in other organs. Accurate diagnosis was essential to enable aggressive therapy in a specialized center. Four other patients are in excellent general health but have symptoms limited to male infertility, heat exhaustion, pancreatitis or transient liver dysfunction, while lung disease is minimal. For these patients, careful counseling is needed to avoid unnecessary upheaval, inappropriately aggressive management, and the psychosocial implications of a CF diagnosis. These dilemmas have increased considerably in our center, as in others worldwide.

Conclusion: It is our obligation as clinicians - at the level of both primary physician and referral center - to maintain an ever higher index of suspicion for CF, tempered by a rational program of counseling and management appropriate to the individual.

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CF= cystic fibrosis

CFTR= CF transmembrane regulator

Background: Anomalous origin of the left coronary artery from the pulmonary artery is a rare congenital malformation that presents a diagnostic challenge to the pediatrician and pediatric cardiologist. Although surgical repair is always indicated, the optimal technique has yet to be determined.      

Objectives: To review our experience with the diagnosis of children with ALCAPA and to assess short to midterm surgical results.

Methods: Between 1992 and 1998, 13 infants and children (2 months to 15 years) were treated for ALCAPA at our medical center. Eight were diagnosed during the first year of life; all were symptomatic and had severe dysfunction of the left ventricle. The five patients diagnosed at an older age had normal myocardial function. Diagnosis was established by echocardiography alone in seven patients; six required catheterization (one infant and all older patients). Surgery was performed in 12 patients to establish dual coronary artery system: 7 underwent the Takeuchi procedure and 5 had re-implantation of the anomalous left coronary artery.

Results: One infant died shortly after diagnosis before surgical repair was attempted, and one died postoperatively. Four patients required additional surgery: three for late complications of the Takeuchi procedure and one valve replacement for mitral insufficiency. Recent evaluation revealed good global left ventricle function in all patients except for one, who is still within the recovery phase and shows gradual improvement. However, most patients who presented with severe myocardial dysfunction upon diagnosis still display abnormal features such as echo-dense papillary muscles or evidence of small akinetic segments. In this group, early repair was associated with faster myocardial recovery.

Conclusions: The diagnosis of ALCAPA remains a clinical challenge to the pediatrician and cardiologist. Diagnosis can be established echocardiographically, and early diagnosis and treatment may lead to faster myocardial recovery. The preferred surgical method appears to be re-implantation of the ALCA. The chance for good recovery of global ventricular function is high even in the sickest patients, nonetheless abnormal myocardial features can be identified even years after surgery.

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ALCAPA= anomolous origin of the left coronary artery from pulmonary artery.

Background: Small bowel obstruction with perforation is an unusual and rare complication of bezoars.

Objective: To describe our use of emergency laparotomy to treat intestinal obstruction caused by bizarre bezoars.

Conclusions: An aggressive surgical approach to intestinal obstruction in the pediatric disabled or mentally retarded population is recommended.
 

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. 

Background: Burn trauma occurs mostly in young children. Burn injury in the pediatric age group has multiple-aspect sequelae.

Objectives: To characterize the profile of the injured pediatric burn patient, thus targeting the most vulnerable pediatric group.

Methods: Between 1 January and 31 December 1996, a total of 9,235 pediatric patients were admitted for various traumatic injuries (burns, lacerations, fractures, etc.) to the Emergency Medicine Department of Schneider Children’s Medical Center. We conducted a retrospective study of the patients’ charts, including demographic data, which were stored in a computerized database, for statistical evaluation. The characteristics of pediatric burn patients were examined and compared with other pediatric trauma patients.

Results: Of the total patient population, 282 (3.1%) suffered from burns (37% females, 63% males). The most frequent burn injury was scald burn (58%). The pediatric group that was most exposed to burns was 13–18 month old males.

Conclusions: Having identified the high risk group among the pediatric burn patients, we suggest that prevention programs be directed towards this group in order to reduce further risk of burn injury.

Background: There is an increasing number of reports of pertussis among older children and adults. The development and licensure of an acellular pertussis vaccine offer the possibility of adult vaccination against the disease. Information on immunity to pertussis in this age group is needed before any vaccination policy can be considered.

Objectives: To study the seroepidemiology of pertussis antibodies in a random sample of adolescents.

Methods: Serum IgG antibodies to whole-cell lysate of Bordetella pertussis were measured by enzyme-linked immunosorbent assay in sera of 533 Israeli military recruits aged 17–18 years. Epidemiologic variables were collected by a questionnaire and analyzed for correlation with pertussis antibodies.  

Results: Of the sera tested 58.6% were positive for pertussis IgG antibodies, while 35.4% were negative and 6% were borderline. The seropositivity rate was significantly higher among females and non-smokers than among males and smokers. Serum samples of subjects found negative to Bordetella pertussis on recruitment were tested again, using the same ELISA assay, 2–3 years later.  Seroconversion during the 3 year military service was detected in 12.5% of 40 subjects. Using the pertussis toxin as the antigen in a subsample of 160 sera, the seroprevalence was lower than that detected by the whole-cell lysate on the same sera (45% vs. 58%).

Conclusions: A significant part of the adolescent population in Israel has low titer of serum IgG antibodies to the multiple antigens of B. pertussis. The relatively low concentration of anti-pertussis antibodies, together with the serological evidence of exposure to the disease indicates that booster immunization with the acellular pertussis vaccine of military recruits should be considered after more information on the incidence of clinical cases of pertussis will be available.

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ELISA = enzyme-linked immunosorbent assay

Background: Protruding aortic atheromas are a potential source of stroke and systemic emboli. The single modality currently available for their detection has been transesophageal echocardiography. However, TEE does not allow full visualization of the upper part of the ascending aorta and proximal aortic arch.

Objectives: To investigate whether double helical computerized tomography- both with and without contrast injection - may represent a useful technique for noninvasive detection of PAA in stroke patients.

Methods: Forty consecutive patients ≥50 years of age who sustained a recent ischemic stroke and/or systemic emboli (within 15 days after the onset of the event) were enrolled in the study and underwent TEE and DHCT without contrast injection using thin slice acquisition (3.2 mm thickness and 1.5 mm reconstruction increment). In addition, the last eight consecutive patients, after obtaining an unenhanced scan, underwent a contrast-enhanced DHCT following peripheral intravenous injection of a small amount of contrast material (15 ml of diatrizoate).

Results: PAAs were demonstrated by TEE in 18 patients (45%); in 16 of them (89%) the atheromas were recognized by DHCT. Of the 22 patients without PAA on TEE, DHCT confirmed their absence in 18 (82%). DHCT yielded a sensitivity of 89%, a specificity of 82%, and an overall accuracy of 85%. The total number of protruding plaques detected by TEE was 43, of which 41 (95%) were correctly identified by DHCT. The mean thickness of the plaques was 5.6±2.4 mm on TEE, and 5.4±2.3 on DHCT (P=NS), with a good correlation between the modalities (γ=0.84). Contrast-enhanced DHCT scans demonstrated absolute equivalence to TEE in aortic areas defined as "clearly visualized by TEE." DHCT detected PAA between the distal ascending aorta and the proximal arch in seven patients; these atheromas were not included in the comparative analysis. In these "occult" areas, DHCT may be superior to TEE.

Conclusions: DHCT without contrast injection using thin slice acquisition may become a useful modality for rapid noninvasive detection of PAA. Contrast-enhanced DHCT scans significantly improve imaging quality and may be superior to TEE in the upper ascending aorta and the proximal arch (areas not well visualized by TEE).

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TEE= transesophgeal echocardiography

PAA= protruding aortic atheroma

DHCT= dual helical computerized tomography
 

Methods: We attempted to investigate plasma oxidation and plasma and erythrocyte glutathione and glutathione enzymes in 20 patients with NIDDM, compared with euglycemic matched controls. Plasma oxidation was analyzed both basally (without) and as induced by 2,2'-azobis,2-amidopropane hydrochloride measured by the generation of thiobarbituric acid reactive substances and lipid peroxides.

Results: There was a significant increase in oxidation both basally (without) and as induced by AAPH. Plasma glutathione was lowered by 50% (P<0.01) and erythrocyte glutathione peroxidase, glutathione s-transferase and glutathione reductase activities were lower by 30%, 27% and 46%, respectively (P<0.01) in the patients with NIDDM.

Conclusions: Confronted by increased oxidation, patients with NIDDM show an abnormal plasma and erythrocyte antioxidative capacity, which may result in an accelerated rate of complications.

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NIDOM= non-insulin-dependent diabetes mellitus

Objectives: To assess the structure and the positive and negative job components of family physicians in Israel, as well as the effect of these components on their satisfaction with their work.

Methods: A questionnaire was sent to a random selection of members of the Israel Society of Family Physicians (n=225).

Results: Altogether 183 questionnaires were returned. Specialist family doctors, practice medical directors and salaried doctors were involved in more activities than non-specialist doctors, trainees and self-employed doctors. Overall satisfaction was highest for specialists and lowest for non-specialists. Work overload, insufficient resources and abundant paperwork were most frequently cited as negative work components. The opportunity to utilize medical knowledge, challenging work and work variety scored highest as positive components.

Conclusions: The more professionally active physicians were also the more satisfied. Clinical work and teaching provided the most satisfaction, while administrative work and lack of time were the main causes of dissatisfaction.

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* This article is dedicated to the memory of our dear friend, Dr. michael Herz, who contributed to the writing of it.

Objectives: To assess the risk factors for malignant melanoma among kibbutz members compared to matched healthy controls.

Methods: We conducted a case-control study of 168 malignant melanoma patients and 325 healthy controls, matched by age and gender. Data were collected on three categories of risk: demographic, personal (e.g., skin, eye and hair color), and environmental/behavioral (e.g., sun exposure, use of sunscreens).

Results: There were no differences between the groups regarding sociodemographic data. Significantly more patients than controls had fair, vulnerable skin (P<0.001), light eyes (P<0.05), and fair hair (P<0.001). There was no difference in family history of malignant melanoma or other cancers. Patients with malignant melanoma had significantly more additional skin lesions (e.g., keratoses) (P<0.001). More patients than controls recalled having been exposed to the sun for long periods when they were 6–13 years of age. A conditional logistic regression analysis showed that fair hair, fair vulnerable skin, and additional skin lesions were independently associated with malignant melanoma (P<0.01).

Conclusions: The main target population for interventions to reduce the incidence of malignant melanoma among kibbutz members should be individuals with these risk factors. A history of increased exposure to the sun from age 6 to 13 should also be taken into account as an independent risk factor. 

Objectives: To analyze the factors that influence the success of physicians in the ATLS®¹ written tests.

Methods: A retrospective study was conducted of 4,475 physicians participating in the Israeli ATLS® training program between 1990 and 1996. Several variables in the records of these physicians were related to their success or failure in the final written examination of the course.

Results: Age, the region of medical schooling, and the medical specialty were found to significantly influence the successful completion of the ATLS® course.

Conclusions: Physicians younger than 45 years of age or with a surgical specialty are more likely to graduate the ATLS® course. The success rate could be improved if the program’s text and questionnaires were translated into Hebrew. 

¹ATLS® = Advanced Trauma Life Support

Objectives: To determine the number of incidents of trauma encountered by medics in the Israel Defense Forces during peacetime, and to ascertain the role of these medics in providing primary trauma care to the victims.

Methods: A retrospective questionnaire, reviewing the activities of medics in treating injured trauma victims, was distributed to medics who were in service for at least 2 years after their professional training.

Results: Of the 128 responding medics, 87 (68%) had actively participated in the treatment of trauma victims under various circumstances. The average number of trauma events was 1.2 events over a period of 2 years per combat medic, and 0.7 for medics stationed in rear units. Their activities included insertion of numerous intravenous fluid lines (57% of medics), assistance in intubations (37%), tube thoracostomies (23%), insertions of central catheters (14%) or orogastric tubes (28%), and manual ventilations (41%).

Conclusion: Since it is difficult to increase the level of practical experience in dealing with trauma within the military framework, new techniques should be applied to improve the trauma training.