Israel Medical Association Journal

Background: Lung disease in patients with famHiat dys-autonomia is caused mainly by recurrent aspiration of gastric contents, food and liquids swallowed incorrectly.

Objective: To describe chest computed tomography findings in patients with familial dyautonomia.

Methods: A retrospective analysis of chest CT findings was performed for 34 FD patients (15 females, 19 males) with a mean age of 18± 12.8 years.

Results: The CT revealed bronchial wall thickening (in 94% of the patients), atelectasis (in 73%), ground glass opacities (in 53%), focal hyperinflation (in 44%), fibrosis (in 29%) and bronchiectasis (in 26%). The extrapulmonary abnormalities were scoliosis (79%) and esophageal dilatation (35%). Silent fractures were noted in two vertebral bodies and one rib.

Conclusions: Pulmonary changes were consistent with chronic inflammation in the bronchi and interstitial tissues. Ground  glass opacities and fibrosis support the theory that these changes could be due to gastric aspiration. Bronchiectasis is less frequent. Esophageal dilatation with fluid overflow adds to aspiration. Fractures can be asymptomaflc and are often missed.
 

Background: Sporadic abdominal desmoid tumors are rare and data on these tumors as a distinct disease entity are lacking. Previous abdominal surgery, trauma, pregnancy and estrogen intake are considered risk factors. Although desmoidsare benign, invasion and a high recurrence rate are common.

Objectives: To evaluate outcomes of surgery for this rare disease.

Methods: Since 1995, 16 patients with pathologically confirmed desmoid tumor were operated on in our center. All familial adenomatous polyposis patients were excluded. A retrospective analysis of data was performed.

Results: Of the 16 patients 12 (75%) were females. Mean age was 40.5 years (range 24-70). Thirteen patients were symptomatic and 3 were incidentally diagnosed. All patients presented with an isolated mass; 7 (50%) originated in the abdominal wall, 6 (37.5%) were retroperitoneal and 3 were (18.8%) mesenteric. All tumors except one were completely excised. Morbidity was low with no mortality. One patient was reoperated due to involved margins. None of the patients had recurrence within a median follow-up of 64 months (range 5-143).

Conclusions: The perception of sporadic abdominal desmoids as tumors with a high recurrence rate (20-70%) is probably incorrect. Adequate surgery with wide margins leads to a very low recurrence rate; cure is a legitimate goal.
 

Background: Anti-ribosomal-P antibodies have been associated with central nervous manifestations of systemic lupus erythematosus. However, inconsistencies in their prevalence and clinical correlations have become an obstacle to their use as a diagnostic marker of the disease. This lack of consistency might stem from several factors, such as the lag period between clinical manifestations and the time blood was drawn, or the different methods used for antibodies detection.

Objectives: To evaluate three different enzyme-linked immunosorbent assay tests for the detection of anti-Rib-P Abs[1] in patients with SLE[2] and normal controls.

Methods: Sera from 50 SLE outpatients and 50 healthy subjects were tested with three ELISA[3] kits: Kit-1, which uses synthetic peptide comprising the 22 C-terminal amino-acids; Kit-2, which uses native human ribosomal proteins (P0, P1, P2); and Kit-3, which is coated with affinity-purified human ribosomal proteins. ELISA studies were performed according to the manufacturers' instructions.

Results: The prevalence of anti-Rib-P Abs in SLE patients and controls was 30% vs. 0%, 17% vs. 21%, and 30% vs. 14% in kits 1-3 respectively. Anti-Rib-P Abs detected by Kit-1 correlated with the SLEDAI score (SLE Disease Activity Index). No correlation between prior CNS[4] manifestations and anti-Rib-P Abs was observed.

Conclusions: A significant difference was documented between the ELISA kits used for the detection of anti-Rib-P Abs. A correlation was found between these antibodies (evaluated by Kit-1) and concurrent SLEDAI scores, in contrast to the lack of correlation with previous CNS manifestations. This supports the notion of "active serology" that is evaluated at the same time manifestations are present, as well as the need for standardization of laboratory assays in the future that enable a better assessment of anti-Rib-P Abs presence and clinical correlation. 

Background: The rate in Israel of in vitro fertilization and embryo transfer procedures is the highest among industrialized countries. The procedure has the potential to make treated patients forever happy, should the desired result occur. It also entails, however, numerous potential complications. Patients who are candidates for the procedure should fully understand potential desired and undesired results, and should give their consent based on this understanding. The question whether currently used informed consent forms for these procedures indeed serve this purpose is, however, open.

Objectives: To explore the usefulness of informed consent forms for IVF&ET[1] that are currently used in Israel to represent the potential benefits and risks of the procedures to the patients.

Methods: Informed consent forms for IVF&ET were scrutinized for accuracy, clarity and relevance, by comparison to relevant medical literature. IVF&ET informed consent forms were also assessed whether they fulfill the requirements of the Israeli Law of Patient's Rights.

Results: Currently used "informed" consent forms for IVF&ET were found to be fundamentally inaccurate and outdated. In some cases (number of embryos to be transferred), the information is grossly obscure. In other cases (alternative management) there are glaring omissions.

Conclusions: Informed consent forms for IVF&ET that are currently used in Israel do not adequately serve their stated purpose. Potential risks and benefits are not presented clearly and alternative management strategies are also missing. Thus, they do not fulfill their social, ethical or legal goals. Updating these forms is urgently needed. New versions should clearly distinguish between common (controllable) and uncommon (uncontrollable) complications.

Background: Information regarding long-term survival after stroke in many countries is scarce.

Objectives: To both assess 5 year survival after stroke in the Israeli population and determine its independent prognostic factors.

Methods: We followed 616 people with acute stroke who were admitted consecutively to seven large general hospitals in Israel. The data were collected on admission to the hospital, at discharge, at 3, 6 and 12 months thereafter, and 5 years after the stroke.

Results: The 5 year cumulative probability of survival was 49.2% (95% CI 45.0–53.7%). In the multivariate Cox analysis, lower age and functioning independently before the event were associated with a lower risk of death, while other demographic characteristics and cardiovascular risk factors were not found to be associated with mortality.

Conclusions: Five year survival after stroke in Israel, though high, is similar to other western countries. There is a need to ensure early, active and sustained implementation of strategies for preventing stroke events.

Background: The rate of cesarean section is increasing and recently exceeded 30% of all deliveries in the United States. Birth injuries during CS[1] are relatively rare. Femur fractures have a very low incidence during both vaginal delivery and CS.

Objectives: To assess our 10 year experience (2008–1997) in managing fractured femur during CS, including a typical case.

Methods: We reviewed the prevalence of femur fractures in two tertiary, academic, level one trauma center hospitals in Israel (Hadassah in Jerusalem and Soroka in Beer Sheva).

Results: During the study period 221,939 deliveries occurred in both hospitals. Of these, 17.6% were cesarean sections (33,990 CS). Of the total number of deliveries, the incidence of femur fracture was 0.082 per 1000 deliveries (17 fractures), and the incidence of femur fracture during CS was 0.308 per 1000 CS (12 fractures).

Conclusions: Cesarean section increases the risk of femur fractures (P < 0.001) with an odds ratio of 11.26 (confidence interval 3.97–31.97).

Background: Chronic heart failure is associated with excessive hospitalizations and poor prognosis.

Objectives: To summarize the 5 year experience of a single-center CHF[1] day care service, detect the cardiovascular and non-cardiovascular events, and evaluate the safety of the treatments provided.

Methods: We retrospectively studied all patients admitted to the CHF day care service of the Sheba Medical Center between September 2000 and September 2005.

Results: Advanced (New York Heart Association class III-IV) CHF patients (n=190), mean age 65 ± 12 years and left ventricular ejection fraction 25 ± 11%, were treated for 6 hourly biweekly visits; 77% had ischemic and 23% had non-ischemic cardiomyopathy. Treatment included: intravenous diuretic combinations (91%), intermittent low dose (≤ 5 mg/kg/min) dobutamine (87%), low dose (≤ 3 mg/kg/min) dopamine (38%), intravenous iron preparation and/or blood (47%), and intravenous nitropruside (36%). Follow-up of at least 1 year from initiation of therapy was completed in 158 of 190 patients (83%). Forty-six (29.3%) died: 23% due to CHF exacerbation, 5.7% from infection, 4.4% from sudden cardiac death, 3.8% from malignancy, 2.5% from malignant arrhythmias, 1.9% from renal failure, 1.3% from stroke, and 0.6% from myocardial infarction. There were only 0.68 rehospitalizations/patient/year; the most frequent cause being CHF exacerbation (16.5%).

Conclusions: Our study demonstrates the safety and potential benefits of a supportive day care service for advanced CHF patients. Multidrug intravenous treatment, accompanied by monitoring of electrolytes, hemoglobin and cardiac rhythm, along with education and psychological support, appear to reduce morbidity in advanced CHF patients and may have contributed to the lower than expected mortality/hospitalization rate.

Isolated ventricular non-compaction is a frequently underdiagnosed rare congenital cardiomyopathy. The importance of diagnosing this cardiomyopathy lies especially in asymptomatic patients, screening relatives of index cases in order to focus on their follow-up and searching for criteria warranting prophylactic anticoagulation, implantable cardioverter defibrillator and anti-remodeling drugs such as angiotensin-converting inhibitors. We present the clinical and imaging characteristics of this entity and discuss some of the therapeutic dilemmas involving these patients.