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BACKGROUND Women with the Lynch syndrome (hereditary nonpolyposis colorectal cancer) have a 40 to 60 percent lifetime risk of endometrial cancer and a 10 to 12 percent lifetime risk of ovarian cancer. The benefit of prophylactic gynecologic surgery for women with this syndrome has been uncertain. We designed this study to determine the reduction in the risk(More)
Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identified and assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding the proalpha1(I) and proalpha2(I) chains,(More)
OBJECTIVE Women from Lynch syndrome/hereditary nonpolyposis colorectal cancer (Lynch/HNPCC) families have an increased lifetime risk of developing endometrial and ovarian cancer. This study models a comparison of management strategies for women who carry a Lynch/HNPCC mutation. METHODS A decision analytic model with three arms was designed to compare(More)
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genotype and phenotype is not yet well understood. To provide(More)
Pervasive medical monitoring has become an ideal alternative to nursing care for elderly people and patients in hospitals. Existing systems using single body-worn sensors are often intrusive and less reliable. By contrast, ubiquitous acoustic sensing techniques can support non-intrusive and robust medical monitoring. In this paper, we describe CoughLoc, a(More)
PURPOSE Recurrence of lethal osteogenesis imperfecta in families results from either dominant (parental mosaicism) or recessive inheritance. The proportion of these two mechanisms is not known, and determination of the contribution of each is important to structure genetic counseling for these families. METHODS We measured the recurrence rate of lethal(More)
Despite the use of newer and more powerful calendar and collaboration tools, the task of scheduling and rescheduling meetings is very time consuming for busy professionals, especially for highly mobile people. Research projects and commercial calendar products have worked since the early 1990s on implementing intelligent meeting organizers to automate(More)
Pregnancy represents a unique opportunity to screen reproductive age women for cervical cancer and abnormal cervical cytology is relatively common in this population. In the absence of large, prospective clinical trials investigating the optimal management strategies for cervical dysplasia in pregnant women, consensus guidelines established by the American(More)
To determine knowledge of gynecologic cancer risk and screening in women with HNPCC. Forty-three women with HNPCC were counseled through a gastrointestinal cancer risk program, and later sent a questionnaire regarding their screening practices for gynecologic neoplasms. Twenty-seven (63%) of 43 responded. Fifteen (55%) of 27 had previously been diagnosed(More)
HYPOTHESIS Serum CA125 is a potential biomarker for metastatic disease and recurrence in patients with uterine papillary serous carcinoma (UPSC). METHODS All patients with UPSC who had preoperative CA125 measurement and surgical staging between 1998 and 2008 at the participating institutions were included in this analysis (N = 52). Data were extracted(More)
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