Israel Medical Association Journal

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: Previous studies have shown a low prevalence of diabetes and other cardiovascular risk factors among Bedouins living in the Negev Desert. New evidence suggests that diabetes is becoming highly prevalent.

Objectives: To estimate the prevalence of diabetes in the town of Rahat, describe the cardiovascular risk factor profile and therapeutic modalities for diabetes and related conditions in this population, and compare these findings with those in the Jewish population.

Methods: A complete record review of all known diabetic individuals aged 35 and older registered at the Rahat Clinic (Clalit Health Services) was carried out by a trained nurse and a research assistant. Information on demographic, anthropometric and clinical characteristics was abstracted. Data on prescribed hypoglycemic agents and other medications were also obtained.

Results: Of the 316 known diabetic patients in the clinic, complete data were available for 271 (85.8 %). The prevalence of known diabetes was 7.3% in males and 9.9% in females. Females had a significantly higher body mass index than males (30.9 vs. 29, P < 0.002), but lower levels of HBA1c and microalbuminuria. Oral hypoglycemic medications were taken by 69% of women and 76% of men, and insulin by 19% of women and 15% of men.

Conclusions: Compared with data on Jewish diabetic patients in the Negev and Israel, the overall prevalence of diabetes in the population of Rahat is higher, but their cardiovascular risk profile is better, except for obesity. These findings support the hypothesis that diabetes and obesity have become major public health problems among Bedouins.
 

Background: The prevalence of clinical manifestations and laboratory parameters in systemic lupus erythematosus differ among various ethnic groups. Few studies have reported on SLE[1] in Arabs.

Objectives: To summarize the demographic, clinical and laboratory features of Arab SLE patients and to compare them with other series from different Arab countries.

Methods: We reviewed the charts of all Arab SLE patients who had been seen at the Carmel Medical Center in Haifa, the Nazareth Hospital and the Holy Family Hospital in Nazareth, and a professional clinic (a referral outpatient clinic of the largest health maintenance organization in Israel) in Acre – all cities in northern Israel. Only patients with symptoms of more than one year were included. Demographic, clinical and laboratory parameters were documented and compared with those of four series from different Arab countries.

Results: The study group comprised 34 patients. The majority of the patients was Moslem; there were a few Druze and one Christian. There was no statistical difference between our patients and any of the other Arab series in terms of arthritis, neuropsychiatric manifestations and VDRL. The presence of serositis and mucocutaneous manifestations was significantly lower in our series compared to some of the other series. However, there was significantly less renal involvement in our patients compared to each of the other series.

Conclusions: The prevalence of most clinical and laboratory parameters in Israeli Arab SLE patients is comparable to that of other series of SLE patients from different Arab countries. The prevalence of renal involvement in Israeli Arab SLE patients seems to be lower than in SLE patients from different Arab countries.

Background: The implementation of treatment guidelines is lacking worldwide.

Objectives: To examine whether follow-up in a specialized lipid clinic improves the achievement rate of the treatment guidelines, as formulated by the National Cholesterol Education Program and the Sixth Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure.

Methods: The study group included patients who were referred to the lipid clinic because of hyperlipidemia. At each of five visits over a 12 month period, lipid levels, liver and creatine kinase levels, body mass index, and adherence to diet and medications were measured, and achievement of the NCEP[1] target level was assessed.

Results: A total of 1,133 patients (mean age 61.3 years, 60% males) were studied. Additional risk factors for atherosclerosis included hypertension (41%), type II diabetes mellitus (21%), smoking (17%), and a positive family history of coronary artery disease (32%). All patients had evidence of atherosclerotic vascular disease (coronary, cerebrovascular or peripheral vascular diseases). The low density lipoprotein target of <100 mg was present in only 22% of patients before enrollment, with improvement of up to 57% after the follow-up period. During follow-up, blood pressure control was improved (from 38% at the time of referral to 88% after 12 months, P < 0.001), as was glycemic control in diabetic patients (HgA₁C improved from 8.2% to 7.1% after 12 months, P < 0.001). Improved risk factor control was due to increased compliance to medication treatment (from 66% at enrollment to more than 90% after 12 months), as well as careful attention to risk factor management that translated into a change in the treatment profile during the follow-up. There was an increase in the use of the following medications: aspirin from 68% to 96%, statins from 42% to 88%, beta blockers from 20% to 40%, and angiotensin-converting enzyme inhibitors from 28% to 42%; while calcium channel blocker use decreased from 40% to 30% in patients during follow-up.

Conclusion: Follow-up of patients in a specialized clinic enhances the achievement of LDL[2]-cholesterol treatment goals as well as other risk factor treatment goals, due to increased patient compliance and increased use of medications.

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Background: The use of an automated biopsy system for renal biopsy has recently gained popularity, but its safety in single functioning kidneys is unclear.

Objective: To report our experience with the automated system for closed renal biopsy during a 5 year period.

Methods: Eighty-five patients underwent percutaneous native renal biopsy with the automated biopsy gun (16G needle) under real-time ultrasound. They were chronologically divided into two groups: 41 patients (group A), using an older ultrasound machine; and 44 patients (group B), using a newer ultrasound machine. Nine patients biopsied with a manual 14G Tru-cut needle served as the control (group C).

Results: The number of "attempted" passes at the kidney was 4.0 ± 0.1 in group B, 4.7 ± 0.3 in group A (P < 0.05 vs. group B), and 5.8 ± 0.5 in group C (P < 0.01 vs. group B). The number of successful passes did not differ (3.3 ± 0.1, 3.3 ± 0.1, 3.1 ± 0.2). The ratio of "attempted/successful" was 1.28 ± 0.07 in group B, 1.95 ± 0.38 in A, and 1.90 ± 0.21 in C (P < 0.01 vs. B). The number of glomeruli obtained was similar in the three groups. Adequate tissue was obtained in 95%, 98%, and 100%, respectively. Hemoglobin decreased by 4.3 ± 1.1% in group B, 6.9 ± 1.3% in group A, and 11.3 ± 1.8% in group C (P < 0.05 vs. B). Perinephric/subcapsular hematoma occurred in 5 patients (11.4%) in group A (2 taking aspirin), in 2 patients (4.9%) in group B, and in none in group C. The necessity for blood transfusion post-biopsy was similar in all groups. Four of five patients with single functioning kidneys (one in group A and four in group B) had uneventful biopsies, and adequate tissue was obtained in three.

Conclusions: The use of the automated biopsy gun is effective, safe and has a low rate of major complications. It may be used safely in single functioning kidneys.