Israel Medical Association Journal

Background: Technetium-99m sestamibi scintigraphy has become one of the most popular techniques for localization of the parathyroid gland after failure of primary neck exploration.

Objective: To examine the efficacy of sestamibi with the hand-held gamma ray detecting probe for the identification of parathyroid adenomas during revision parathyroidectomy.

Methods: We reviewed six cases of probe-assisted neck exploration for parathyroid lesions following unsuccessful primary exploration.

Results: In all cases, the pathologic glands were successfully detected and removed.

Conclusions: With careful planning, a gamma ray detecting probe can be used optimally at 2–3 hours after technetium-99m sestamibi injection. The probe is efficient, easy and convenient to use.
 

Background: Several in vitro studies have reported on the efficacy of combined liposomal encapsulated doxorubicin (Doxil® or Caelyx®, MedEquip, UK) and hyperthermia over Doxil alone.

Objectives: To document the beneficial effect of Doxil-HT over Doxil alone in mice and to investigate the length of time HT[1] should be delivered.

Methods: M/109 lung tumor cells were injected into both leg pads of Balb/c female mice at age of 6–7 weeks. Two weeks later i.v. Doxil in a dose of 8 mg/kg (20–25 µg per mouse) was given and 4 HT sessions (2–3 days apart) were delivered during the subsequent 2 weeks at 2–3 days apart. HT was given to the left pad only for either 5 or 30 minutes (HT5 and HT30 respectively). Five weeks after tumor injection the mice were sacrificed and tumor volume and weight in both pads were measured. Internal comparisons between mice in the same treatment group and comparisons between different treatment cohorts were performed.

Results: In the combined Doxil-HT5 and Doxil-HT30 cohorts the tumor volume and weight in both pads were similar and did not differ from those achieved by Doxil alone. In the Doxil-HT30 cohort the tumor weight, but not the tumor volume, were smaller than those in Doxil-HT5 and Doxil alone (P = 0.006 and 0.01 respectively).

Conclusions: The combined Doxil-HT30 treatment is more effective then Doxil-HT5 or Doxil alone. Additional studies with different time scheduling and different temperatures are warranted.

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[1] HT = hyperthermia

Background: Despite the high incidence of pemphigus in the Jewish population, data on the epidemiology and etiology of the disease in Israel are sparse.

Objective: This study was conducted to identify clinical and epidemiologic features of pemphigus patients in Israel, while searching for risk factors that induce or exacerbate the disease.

Methods: Demographic and clinical information was recorded from the charts of 55 pemphigus patients treated over a 5 year period. A sample of 22 patients was compared to 22 age and gender-matched controls by means of a questionnaire querying details on lifestyle, including occupation, diet, sun exposure, and smoking.

Results: The findings show that the typical Israeli pemphigus patient is middle-aged, married, and of East European or Middle Eastern origin. The most common diagnosed clinical variant was pemphigus vulgaris, followed by pemphigus erythematosus. Some 70% of patients were treated with two or more immunosuppressive drugs and 62% entered long-lasting remission. Twenty-three percent of patients were exposed through their work to chemical substances, mainly pesticides, at the beginning of the disease and 18% of patients were continually exposed to ultraviolet radiation 5 years prior to onset of the disease.

Conclusions: There is a possible correlation between occupational exposure to pesticides and UV[1] radiation, and pemphigus induction.

Background: Acute pharyngitis in children is one of the most frequent illnesses for which primary care physicians are consulted. It is caused more frequently by viruses than by bacteria, but it is difficult to differentiate the causative agent by clinical signs alone. Group A Streptococcus accounts for 30% of children with a sore throat, and only in these cases is antibiotic therapy definitely indicated. However, the frequency and symptomatology of streptococcal pharyngitis in adults is not well established.

Objectives: To examine the clinical features that could distinguish sore throat caused by b-hemolytic group A Streptococcus in adults.

Methods: Patients aged over 16 years old (n=207) who presented with a sore throat to community clinics were examined and throat cultures were taken. The microbiologic confirmation of Group A Streptococcus was correlated with symptoms and clinical signs by univariate analysis.

Results: About 24% of the patients with positive cultures were younger individuals. Chills, absence of cough, pain in swallowing, absence of rhinitis, headache, vomiting, tonsillar exudate, oral malodor, fever >38°C and sweats had high sensitivity but low specificity for streptococcal pharyngitis. Univariate analysis suggested that chills and pharyngeal exudate had the greatest predictive value for streptococcal pharyngitis (P = 0.044, odds ratio 2.45; P = 0.001, OR[1] 5.49, respectively). When compared with a published scoring method (Centor criteria), large inconsistencies were found.

Conclusion: Our adult population had a relatively high prevalence of group A Streptococcus, and their presentation differed from that of pediatric patients. In primary care, a throat swab culture is not necessary in adults with a low score (0–1 points).

Background: Infant mortality in Israel is twofold higher among non-Jews than Jews.

Objectives: To determine the impact of congenital malformations and Mendelian diseases on infant mortality.

Methods: We compared the causes of infant mortality in a 4 year period among Jewish and non-Jewish Israeli citizens. Classification was done by analyzing all the death reports according to whether or not the child had any known major malformation, Mendelian disease and/or a syndrome, irrespective of the immediate cause of death.

Results: The infant mortality among non-Jews was double that among Jews (9 versus 4.4 per 1,000 live births). The rate of children with malformations/genetic syndromes was 3.1 times higher among non-Jews than among Jews (2.94 vs. 1.25 per 1,000 live births). The most significant difference was in the rate of Mendelian diseases, which were 8.3 times more frequent in non-Jewish children (0.16 vs. 1.33 per 1,000 live births respectively). A Mendelian disease was diagnosed in almost 15% of the non-Jewish infants and in less than 5% of the Jewish infants.

Conclusions: The most striking difference between the Jewish and non-Jewish infants was the incidence of congenital malformations and Mendelian diseases parallel to the differences in the consanguinity rates between the two populations.
 

Background: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.

Objective: To measure bone density in two siblings with the OPPG[1] syndrome as well as in their family members (parents and siblings).

Methods: Bone mineral density was determined in the lumbar spine (antero-posterior), femoral neck, two-thirds distal forearm (>95% cortical bone) and ultradistal forearm (predominantly trabecular bone) by dual-energy X-ray absorptiometry.

Results: The studies revealed osteoporotic changes both in the patients and the carriers.

Conclusion: The findings demonstrate that OPPG carriers have reduced bone mass, which is a risk factor for development of early osteoporotic changes.

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Background: Bleeding in the first trimester of pregnancy is a common phenomenon, associated with early pregnancy loss. In many instances a subchorionic hematoma is found sonographically.

Objective: To evaluate the possible benefit of bed-rest in women with threatened abortion and sonographically proven subchorionic hematoma, and to examine the possible relationship of duration of vaginal bleeding, hematoma size, and gestational age at diagnosis to pregnancy outcome.

Methods: The study group consisted of 230 women of 2,556 (9%) referred for ultrasound examination because of vaginal bleeding in the first half of pregnancy, who were found to have a subchorionic hematoma in the presence of a singleton live embryo or fetus. All patients were advised bed-rest at home; 200 adhered to this recommendation for the duration of vaginal bleeding (group 1) and 30 continued their usual lifestyle (group 2). All were followed with repeated sonograms at 7 day intervals until bleeding ceased, the subchorionic hematoma disappeared, or abortion occurred. The groups were compared for size of hematoma, duration of bleeding, and gestational age at diagnosis in relation to pregnancy outcome (spontaneous abortion, term or preterm delivery).

Results: The first bleeding episode occurred at 12.6 ± 3.4 weeks of gestation (range 7–20 weeks) and lasted for 28.8 ± 19.1 days (range 4–72 days). The women who adhered to bed-rest had fewer spontaneous abortions (9.9% vs. 23.3%, P = 0.006) and a higher rate of term pregnancy (89 vs. 70%, P = 0.004) than those who did not. There was no association between duration of vaginal bleeding, hematoma size, or gestational age at diagnosis of subchorionic hematoma and pregnancy outcome.

Conclusions: Fewer spontaneous abortions and a higher rate of term pregnancy were noted in the bed-rest group. However, the lack of randomization and retrospective design of the outcome data collection preclude a definite conclusion. A large prospective randomized study is required to confirm whether bed-rest has a real therapeutic effect.

Background: Cystinuria is an autosomal recessive disease that is manifested by the development of kidney stones. Mutations in SLC3A1 cause type I disease, while mutations in SLC7A9 are associated with non-type I disease. In Israel cystinuria is especially common among Libyan Jews who suffer from non-type I disease.

Objectives: To compare clinical manifestations of patients with mutations in SLC3A1 to those with mutations in SLC7A9, and to assess the carrier rate among unaffected Libyan Jewish controls.

Methods: Clinical manifestations were evaluated in patients with mutations in SLC3A1 and in patients with mutations in SLC7A9. Carrier rates for two SLC7A9 mutations were assessed in 287 unaffected Libyan Jewish controls.

Results: Twelve patients with mutations in SLC3A1 were compared to 15 patients with mutations in SLC7A9. No differences were detected between the patients with mutations in SLC3A1 and those with mutations in SLC7A9 in relation to the age of disease onset, the estimated number of stones, the number of invasive procedures, the number of patients receiving drug therapy, or the patients’ urinary pH. Eleven of the unaffected Libyan Jewish controls were found heterozygotes for the V170M mutation, establishing a carrier rate of 1:25. The 1584+3 del AAGT mutation was not found in any of the Libyan Jewish controls.

Conclusion: Mutations in SLC3A1 and SLC7A9 cystinuria patients result in indistinguishable disease manifestations. The high carrier rate among Libyan Jews is a result of a single missense mutation, V170M.