Edna Ben-Asher, PhD, Vered Chalifa-Caspi, PhD, Shirley Horn-Saban, PhD, Nili Avidan, PhD, Zviya Olender, PhD, Avital Adato, PhD, Gustavo Glusman, Marilyn Safran, Menachem Rubinstein, PhD and Doron Lancet, PhD
Joel Zlotogora, MD, PhD and Alex Leventhal, MD, MPH
The screening program in Israel for Tay-Sachs disease has proven very successful, giving Jewish couples a choice not to have affected children. The technology of carrier detection is now possible in several other severe genetic diseases that are relatively frequent among Jews. Due to the current confusion, a policy is needed to determine how the TSD screening program should be continued in the Israeli Jewish population. We propose that such a screening program include only mutations agreed by consensus as causing a disease severe enough to warrant the possibility of therapeutic abortion. We also propose that general screening include only mutations that are relatively frequent, taking into account the carrier frequencies in the Israeli Jewish population.
Mordechai Yigla, MD, Salim Dabbah, MD, Zaher S. Azzam, MD, Ami-Hai E. Rubin, MD and Simon, A. Reisner, MD
Background: Data regarding the epidemiology of secondary pulmonary hypertension are scanty.
Objectives: To describe the spectrum and relative incidence of background diseases in patients with significant secondary PHT.
Methods: We identified 671 patients with systolic pulmonary artery pressure of 45 mm Hg or more from the database of the echocardiographic laboratory. Their background diseases were recorded and classified into three subgroups: cardiac, pulmonary and pulmonary vascular disease without pulmonary parenchymal disease. Age at the first echocardiographic study, gender and systolic PAP values were recorded. Data between the three subgroups were compared.
Results: The mean age of the patients was 6515 years, mean systolic PAP 6114 mm Hg and female:male ratio 1.21:1. At the time of diagnosis 85% of the patients were older than 50. PHT was secondary to cardiac disease in 579 patients (86.3%), to PVD without PPD in 54 patients (8%) and to PPD in only 38 patients (5.7%). Mean age and mean systolic PAP did not differ significantly among the three subgroups. There was a significantly higher female: male ratio in patients with PVD without PPD compared with cardiac or pulmonary diseases (1.7:1 vs. 1.2:1 and 1.7 vs. 0.8:1 respectively, P0.05).
Conclusions: The majority of patients with significant PHT are elderly with heart disease. PVD without PPD and chronic PPD are a relatively uncommon cause of significant PHT. Since the diagnosis of PHT is of clinical significance and sometimes merits different therapeutic interventions, we recommend screening by Doppler echocardiography for patients with high risk background diseases.
Alexander Rozin, MD, Bishara Bishara, MD, Ofer Ben-Izhak, MD, Doron Fischer, MD, Anna Carter, PhD and Yeouda Edoute, PhD
Aliza Zeidman, MD, Benjamin Z. Sender, MD, Jumah Badear, MD and Zinaida Fradin, MD