R. Sukenik-Halevy, U. leil-Zoabi, L, Peled-Perez, J. Zlotogora, and S. Allon-Shalev
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.
A. Bar-Shai, B. Tiran, M. Topilsky, J. Greif, I. Fomin Irina and Y. Schwarz
Background: Most studies on asbestos-related diseases describe the associations between exposure and disease and the factors influencing that association. It is recognized that there is a long latency period between exposure and disease, but the health status of affected individuals after long-term non-exposure is uncertain.
Objectives: To describe the changes in pulmonary function tests (PFTs) and computed tomographic imaging of the thorax over a 15 year period after cessation of exposure to asbestos in a cohort of Israeli power plant workers.
Methods: Israeli power plant workers whose PFTs and thoracic CT imaging between 1993 and 1998 revealed asbestos-related disease underwent a second clinical, functional and imaging evaluation up to 15 years later. The two sets of results were compared.
Results: Of the original cohort of 59 males, 35 were still alive, and 18 of them agreed to take part in the current study. The mean length of their exposure was 30 ± 10.06 years (range 7–43 years). Comparison of the initial and follow-up examination findings revealed a significant increase in calcification of the pleural plaques (from 37% to 66%, P = 0.008) and a deterioration in PFTs (P = 0.04). Of the 24 men who died, malignant disease was the cause of death in 53%, mostly in sites other than the respiratory system.
Conclusions: PFTs declined and CT findings worsened in subjects who were formerly exposed to asbestos and had not been exposed to it for over a decade. Continued monitoring of individuals exposed to asbestos, even decades after the cessation of exposure, is recommended.
S. Shulman, D. Goldenberg, Z. Habot-Wilner, M. Goldstein, and M. Neudorfer
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.
N. Watemberg, I. Sarouk, and P. Fainmesser
Background: Since clinical signs of meningeal irritation in infants may be absent or misleading, the American Academy of Pediatrics in 1996 recommended that a lumbar puncture be performed in young children following a febrile seizure. Recent evidence supports a conservative approach in children who do not look ill at the time of the physician's assessment. Moreover, seizures as the presenting or sole symptom of bacterial meningitis are very rare.
Objectives: To assess physicians’ compliance with the Academy’s recommendations and to determine the incidence of meningitis among febrile seizure patients, including those who did not undergo the puncture.
Methods: We conducted a retrospective analysis of the number of punctures obtained in febrile seizure patients aged 6–24 months, focusing on the clinician's indications for performing the procedure and on the clinical course of children who did not undergo the puncture.
Results: Among 278 patients (84% simple febrile seizure), 52 (18.7%) underwent the procedure. It was performed in 38% of 45 complex febrile seizure cases and in 48% of 91 infants younger than 12 months of age. Aseptic meningitis occurred in two infants, both with post-ictal apathy. Bacterial meningitis was not found and in none of the patients who did not undergo the puncture was meningitis later diagnosed.
Conclusions: Compliance with the Academy’s recommendations was low, as emergency room physicians based their decision whether to obtain a lumbar puncture solely on clinical grounds. No case of bacterial meningitis was detected among 278 young children with a febrile seizure, including those who did not undergo the puncture.
D. Hershko, R. Abdah-Bortnyak, A. Nevelsky, E. Gez, ,G. Fried, and A. Kuten
Background: Local recurrences after breast-conserving surgery occur mostly at the site of the primary carcinoma. The main objective of postoperative radiotherapy is sterilization of residual cancer cells. Whole-breast radiotherapy is the standard of care, but its utility has recently been challenged in favor of radiotherapy limited to the area at highest risk of recurrence. Intraoperative electron radiotherapy (IOeRT) is an innovative technique for accelerated partial breast irradiation (APBI) that is applied to selected patients affected by early breast cancer.
Objectives: To describe our experience with IOeRT at the Rambam Health Care Campus in Haifa since we began utilizing this modality in 2006.
Methods: From April 2006 to September 2010, 31 patients affected by unifocal invasive duct breast carcinoma ≤ 2 cm diameter received wide local resection followed by intraoperative radiotherapy with electrons. Patients were evaluated for early and late complications, and other events, 1 month after surgery and every 3 months thereafter for the duration of the first 2 years.
Results: After a mean follow-up of 36 months, seven patients developed mild breast fibrosis and three suffered from mild postoperative infection. Rib fractures were observed in four patients before routine lead shielding was initiated. Additional whole-breast irradiation was given to four patients. None of the patients developed local recurrences or other ipsilateral cancers. Similarly, no contralateral cancers or distant metastases were observed.
Conclusions: Intraoperative electron radiotherapy may be an alternative to external beam radiation therapy in an appropriate selected group of early-stage breast cancer patients. However, long-term results of clinical trials are required to better evaluate the indications and utility of this technique in the management of breast cancer.
E. Kitai, G. Blumberg, D. Levy, A. Golan-Cohen, and S. Vinker
Background: Fatigue is a common complaint in primary care and has a broad differential diagnosis, making the approach complex and often ineffective.
Objectives: To follow the course of adults without a significant known background disease who complain of fatigue for the first time, and to characterize the family physician’s approach.
Methods: The study population comprised a random sample of 299 patients aged 18–45 who presented with fatigue as a first-time single complaint to their family physician. Excluded were patients with chronic diseases or states that may include signs of fatigue. We analyzed the index encounter data, the diagnostic and laboratory tests, the medications prescribed and the one year clinical outcome.
Conclusions: The majority of young healthy patients complaining of fatigue are not diagnosed with an organic physiological disorder. Many of the study patients were sent for laboratory tests but in most cases these tests were not contributory to the diagnosis or management. It seems likely that the most efficient strategy would be watchful follow-up with a minimum of testing.