Israel Medical Association Journal

Background: Genetic screening tests for cystic fibrosis (CF), fragile X (FRAX) and spinal muscular atrophy (SMA) have been offered to the entire Arab population of Israel in the last few years. Since 2008, screening for CF is provided free of charge, but for FRAX and SMA the screening is privately funded with partial coverage by complementary health insurance programs.

Objectives: To assess the compliance of Arab couples for genetic screening tests, and the factors that affect their decisions.

Methods: We analyzed compliance for genetic screening tests at the Emek Medical Center Genetic Institute, and in outreach clinics in four Arab villages. We enquired about the reasons individuals gave for deciding not to undergo testing. We also assessed the compliance of these individuals for the triple test (a screening test for Down syndrome).

Results: Of the 167 individuals included in our study, 24 (14%) decided not to be tested at all. Of the 143 (86%) who decided to be tested, 109 were tested for CF only (65%) and 34 (20%) for SMA and FRAX (as well as CF). The compliance rate for the triple test was 87%. Technical reasons, mainly financial issues, were the most significant factor for not undergoing all three tests.

Conclusions: The compliance of the Arab community for genetic testing for SMA and FRAX is extremely low. We believe that this low utilization of screening is due to economic reasons, especially when a complementary health plan has not been acquired, and largely reflects the perception that these tests are less important since they are privately funded.
 

Background: Acute, as opposed to chronic, anterior uveitis is rarely associated with macular or optic nerve  edema. Nevertheless, mild changes may not be visible on examination.

Objectives: To implement non-invasive ocular coherence tomography (OCT) for obtaining quantitative and qualitative data in the assessment of changes in macular morphology and peripapillary retinal nerve fiber layers in eyes with acute anterior uveitis.

Methods: This retrospective case-control study was conducted in patients with unilateral acute anterior uveitis lasting for up to one month. Patients with evidence of other ocular disease or who had undergone intraocular surgery were excluded. We reviewed the charts of 14 consecutive patients who were diagnosed with acute unilateral anterior uveitis between 2007 and 2008 at the Tel Aviv Medical Center. Data on demographic details, ophthalmic examination, macular thickness and peripapillary retinal nerve fiber layer (RNFL) thickness (as demonstrated by OCT) were retrieved. Retinal and RNFL thickness was compared between the healthy fellow eye (control) and the uveitic eye in the central and four perifoveal quadrant regions, and RNFL thickness was compared in the mean and four quadrant values by Student’s t-test.

Results: We evaluated 28 eyes of 7 males and 7 females (mean age 37.7 years, range 20–65). The diagnoses were: idiopathic in five patients, ankylosing spondylitis in five, Crohn’s disease in one patient and reactive arthritis in one. Nine patients were HLA-B27 positive. The retina and the peripapillary NFL in each area were thicker in the uveitic eyes compared to the controls. The difference was statistically significant. There was no correlation between the differences in OCT values and patients’ demographic characteristics.

Conclusions: OCT demonstrated that eyes with acute anterior uveitis had thicker maculae and thicker peripapillary RNFL than controls. This finding suggests that even milder anterior uveitis may be associated with some degree of posterior segment manifestations.

Background: Diabetic ketoacidosis (DKA) is a common and serious complication of diabetes mellitus (DM).

Objectives: To evaluate the clinical characteristics, hospital management and outcomes of patients with DKA.

Methods: We performed a retrospective cohort study of patients hospitalized with DKA during the period 1 January 2003 to 1 January 2010. Three groups were compared: patients with mild DKA, with moderate DKA, and with severe DKA. The primary outcome was in-hospital all-cause mortality. The secondary outcomes were 30 days all-cause mortality, length of hospital stay, and complication rate.

Results: The study population comprised 220 patients with DKA. In the mild (78 patients) and moderate (116 patients) groups there was a higher proportion of patients with type 1 DM (75.6%, 79.3%) compared with 57.7% in the severe group (26 patients, P = 0.08). HbA1C levels prior to admission were high in all three groups, without significant difference (10.9 ± 2.2, 10.7 ± 1.9, and 10.6 ± 2.4 respectively, P = 0.9). In all groups the most frequent precipitating factors were related to insulin therapy and infections. The patients with severe DKA had more electrolyte abnormalities (hypokalemia, hypomagnesemia, hypophosphatemia) compared with the mild and moderate forms of the disease. While 72.7% of the entire cohort was hospitalized in the general medical ward, 80.8% of those with severe DKA were admitted to the intensive care unit. The in-hospital mortality rate for the entire cohort was 4.1%, comparable with previous data from experienced centers. Advanced age, mechanical ventilation and bedridden state were independent predictors associated with 30 day mortality: hazard ratio (HR) 1.1, 95% confidence interval (CI) 1.02–1.11; HR 6.8, 95% CI 2.03–23.1; and HR 3.8, 95% CI 1.13–12.7, respectively.

Conclusions: Patients with DKA in our study were generally poorly controlled prior to their admission, as reflected by high HbA1c levels. Type 2 DM is frequently associated with DKA including the severe form of the disease. The most common precipitating factors for the development of DKA were related to insulin therapy and infections. Advanced age, mechanical ventilation and bedridden state were independent predictors of 30 day mortality.
 

Background: Alcohol consumption in Israel has increased over the last 20 years. Patients with alcohol use disorder (AUD) who present at a hospital enable early intervention. Objectives: To examine, for the first time, the characteristics of AUD patients in an Israeli general hospital, including whether their alcohol use is documented in their file.

Methods: A group of 178 consecutive patients referred for psychiatric consultation was compared to a second group of 105 hospitalized patients who were not referred. These two groups were studied to compare risk factors for AUD. Patients in both groups were prospectively interviewed using a CAGE questionnaire, demonstrated as an effective screening instrument for AUD. Patients' files in both groups were examined for documentation of alcohol use.

Results: There was no significant difference between the prevalence of AUD in the two groups. The groups were then merged since no significant difference in the risk factor effects between the two groups was found. The risk factors for AUD in the final statistical analysis were lower educational status, living alone, being born in the Former Soviet Union and weaker religious observance. Post-traumatic stress disorder (PTSD), cigarette smoking and substance use were found to be independent risk factors. Soldier status was associated with significant alcohol misuse and AUD (CAGE1–4). Alcohol consumption was documented in the files of AUD patients in 48% of the first group and 21% of the second.

Conclusions: Physicians often neglect to take a history of alcohol consumption. Routine use of the CAGEquestionnaire is recommended in Israeli general hospitals. Special attention should be given to PTSD patients and to soldiers.
 

Physicians have a great interest in discussions of life and its origin, including life's persistence through successive cycles of self-replication under extreme climatic and man-made trials and tribulations. We review here the fundamental processes that, contrary to human intuition, life may be seen heuristically as an ab initio, fundamental process at the interface between the complementary forces of gravitation and quantum mechanics. Analogies can predict applications of quantum mechanics to human physiology in addition to that already being applied, in particular to aspects of brain activity and pathology. This potential will also extend eventually to, for example, autoimmunity, genetic selection and aging. We present these thoughts in perspective against a background of changes in some physical fundamentals of science, from the earlier times of the natural philosophers of medicine to the technological medical gurus of today. Despite the enormous advances in medical science, including integration of technological changes that have led to the newer clinical applications of magnetic resonance imaging and PET scans and of computerized drug design, there is an intellectual vacuum as to how the physics of matter became translated to the biology of life. The essence and future of medicine continue to lie in cautious, systematic and ethically bound practice and scientific research based on fundamental physical laws accepted as true until proven false.
 

The incidence of invasive uterine cervical cancer in Israeli Jewish women is persistently lower than in many other countries, although the frequency of premalignant lesions is similar to that in other populations. Most characteristics, except certain traditional habits, are similar to those in other populations. The incidence among women born in North Africa and their Israeli born descendants is significantly higher than in those born in other continents, possibly due to genetic factors. In view of the similarities to other populations the reason for the low incidence in Israel remains obscure, and whether it may be attributed to genetic reasons or to some traditional habits remains to be confirmed