Israel Medical Association Journal

The etiology of inflammatory bowel diseases, Crohn’s disease and ulcerative colitis, is uncertain. Studies of specific environmental factors and immune dysfunction have provided limited insight into disease pathogenesis. There is ample evidence that these diseases are in part the result of genetic predisposition. The early search for candidate genes focused on genes involved in the regulation of immune function.

Recent genome wide searches reported several susceptibility loci for Crohn’s disease and ulcerative colitis. The recent identification of the IBD1 gene (NOD2) with mutations that are associated with susceptibility to Crohn’s disease will have a major impact on the understanding of the genetics of this disease.
 

Fanconi anemia is a rare autosomal recessive disorder characterized clinically by congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancy. FA cells are sensitive to DNA cross-linking agents. Complementation analysis of FA cells using somatic cell fusion has facilitated the identification of eight complementation groups, suggesting that FA is a genetically heterogeneous disorder. Six genes (FANCA, FANCC, FANCD2, FANCE, FANGF, FANCG) have been cloned so far. The majority of affected patients belong to FA group A. Of the 32 unrelated Israeli patients with FA that we studied, 6 carried the FANCC mutations and 15 the FANCA mutations. Among the Jewish patients, ethnic-related mutations were common. Recent cumulative evidence suggests that the FA proteins are repair proteins. FANCC, FANCA and FANCG bind and interact in a protein complex found in the cytoplasm and nucleus of normal cells. FANCD2 exists in two isoforms; the long active form, FANCD2-L, is absent from FA cells of all complementation groups. FANCD2 co-localized with BRCA1 in unclear foci, probably as part of a large genomic surveillance complex. Studies using FANCA and FANCC knockout mice suggest that bone marrow precursors express interferon-g hypersensitivity and show progressive apoptosis. The definition of the molecular basis of FA in many affected families now enables prenatal diagnosis.

Background: Despite the controversy regarding the risks and benefits of hormone replacement therapy, studies in various countries indicate a two- to threefold increase in the use of HRT[1] during the last decade.

Objectives: To estimate the prevalence of HRT use among post-menopausal Jewish women in Israel and to determine the variables predicting current HRT use.

Methods: A cross-sectional telephone survey was conducted in 1998 on a random sample of Jewish women aged 45–74. Of 935 women who were located and eligible, 704 (75%) were interviewed by means of a structured questionnaire.

Results: A total of 589 women (85%) were peri-menopausal or post-menopausal.  Ninety-nine of them (16.8%) were currently using HRT and 78 (13.2%) were past users. Higher rates of current use were found among women who had undergone hysterectomy and/or oophorectomy (38%) than among all other women (13.5%).  Among naturally menopausal women the highest rate of current use (25.6%) was found in those aged 55–59.  A multiple logistic regression showed that the variables associated with current HRT use among naturally menopausal women  were: having a regular gynecologist (odds ratio 3.6, 95% confidence interval 1.7–7.5), visiting a gynecologist during the past year (OR[2] 2.9, 95% CI[3] 1.4–6.0), experiencing symptoms of menopause (OR 2.0, 95% CI 1.01–3.8), having more than a high-school education (OR 1.9, 95% CI 1.04–3.6), and a lower body mass index (OR 0.91, 95% CI 0.85–0.99).

Conclusions: The factors associated with HRT use may be markers for other socioeconomic or psychological characteristics. The disparities noted between population subgroups may be indicative of differences in awareness or in the delivery of preventive healthcare services to women in Israel, and as such need to be addressed by the health system.

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Background: Low density lipoprotein apheresis is used as a complementary method for treating hypercholesterolemic patients who cannot reach target LDL[1]-cholesterol levels on conventional dietary and drug treatment. The DALI system (direct absorption of lipoproteins) is the only extracorporeal LDL-removing system compatible with whole blood.

Objective: To describe our one year experience using the DALI[2] system.

Methods: LDL apheresis was used in 13 patients due to inability to reach target LDL-C levels on conventional treatment. They included seven patients with familial hypercholesterolemia, three who had adverse reactions to statins, and three patients with ischemic heart disease who did not reach LDL-C target level on medical treatment.

Results: The average triglyceride, total cholesterol, high density lipoprotein-C and LDL-C levels before and after treatment in all patients were: 170 ± 113 vs. 124 ± 91, 269 ± 74 vs. 132 ± 48, 42 ± 8 vs. 37 ± 7.9, and 196 ± 77 vs. 80 ± 52 mg/dl, respectively. Comparing the results of a subgroup of seven patients who had previously been treated with plasma exchange, it is noteworthy that while the reduction in triglyceride, total cholesterol and LDL-C are comparable, the effect on HDL[3]-C concentration was less apparent: from an average of 39.7 ± 8.7 and 23 ± 5.7 mg/dl before and after plasma exchange to an average of 43.9 ± 8.1 and 38.4 ± 7 mg/dl before and after LDL apheresis, respectively. Five patients developed treatment-related adverse events: three experienced allergic reactions manifested as shortness of breath, urticaria and facial flushing; one patient developed rhabdomyolysis, an adverse reaction that was not reported previously as a result of LDL apheresis; and one patient had myopathy with back pain. All untoward effects occurred during the first few treatment sessions.

Conclusions: LDL apheresis using the DALI system is highly efficacious for the treatment of hypercholesterolemia. It is associated with a significant number of side effects occurring during the first treatment sessions. In patients not experiencing adverse effects in the early treatment period, it is well tolerated, and can provide remarkable clinical benefit even after short-term therapy.

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Background: Fine-needle aspiration is a widely accepted method in the preoperative evaluation of head and neck tumors. However, its effectiveness in the interpretation of salivary gland disorders is controversial.

Objectives: To evaluate the effectiveness of FNA[1] as a preoperative diagnostic tool of parotid lesions.

Methods: Reports of 52 FNA from various parotid gland lesions were compared with the final pathologic diagnoses.

Results: We noted 31 true-positive, 5 true-negative and 16 false-negative results. There were no false-positive FNA reports. The calculated sensitivity, specificity and accuracy of FNA diagnosis in this study were 66%, 100%, and 69.2% respectively.

Conclusions: The high rate (30.8%) of false-negative FNA results was partly explained by sampling errors, therefore specificity of the procedure could be improved by the precise selection of a representative aspiration site.

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