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OBJECTIVE To describe our 2-year experience with preimplantation genetic diagnosis (PGD) for carriers of mutations in the genes BRCA1 and BRCA2, the dilemmas incurred and the lessons learned. METHODS We collected data on those carriers of BRCA1/2 mutations who applied for PGD counseling and who decided to proceed. We describe the PGD procedures that were(More)
The mutations 185delAG, 188del11, and 5382insC in the BRCA1 gene and 6174delT in the BRCA2 gene were analyzed in 199 Ashkenazi and 44 non-Ashkenazi Jewish unrelated patients with breast and/or ovarian cancer. Of the Jewish Ashkenazi women with ovarian cancer, 62% (13/21) had one of the target mutations, as did 30% (13/43) of women with breast cancer alone(More)
Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characterized by periodic, reversible attacks of muscle weakness. Mutations in the skeletal muscle dihydropyridine receptor alpha 1-subunit that functions as a calcium channel (CACNL1A3) cause hypoKPP. We studied a group of 45 hypoKPP probands and demonstrated mutations(More)
BACKGROUND Human embryonic stem cells (hESCs) suitable for future transplantation therapy should preferably be developed in an animal-free system. Our objective was to develop a laser-based system for the isolation of the inner cell mass (ICM) that can develop into hESC lines, thereby circumventing immunosurgery that utilizes animal products. METHODS(More)
In the community of the Orthodox Jews most of the marriages are arranged a screening program that is aimed at preventing the marriage of two carriers of autosomal recessive disorders is conducted by the Dor Yesharim organization. A random sample of 6,076 individuals of the Orthodox Jewish Ashkenazi community, were screened for the five mutations common in(More)
  • N Weinberg
  • 2001
BACKGROUND Health care organizations dedicate enormous time and resources collecting data to measure the performance of physicians, hospitals, and other medical facilities. These measures may reflect outcomes, processes of care, patient perceptions of the quality of care, and resource utilization and cost. However, less thought is given to how the(More)
BACKGROUND While routine clinical decision-making has a substantial effect on quality, most practising physicians do not routinely examine their outcomes. OBJECTIVES To set up a practical process for identifying problems in hospital practices of primary care physicians, examine their causes, and develop a quality improvement process that intimately(More)
Review of 146 internal medicine cases at Emerson Hospital in Concord, Massachusetts, revealed significant variations in the patterns of physician error and medical problem solving for five diseases: recurrent congestive heart failure, transient ischemic attacks, recurrent cerebrovascular accidents, upper gastrointestinal hemorrhage, and acute bacterial(More)