Medicine and Health Sciences Commons^™

Glanzmann Thrombasthenia. Cooperation Between Sequence Variants In Cis During Splice Site Selection., Ying Jin, Harry C. Dietz, Robert A. Montgomery, William R. Bell, Iain Mcintosh, Barry Coller, Paul F. Bray

Cardeza Foundation for Hematologic Research

Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the cis-acting sequences known to regulate splice site selection. In vitro analysis of transcripts generated from mini-gene constructs demonstrated that exon skipping occurred only when the G-->A mutation was cis to a polymorphism 116 bp upstream, providing precedence that two sequence variations …

Department Of Radiology-Annual Report-July 1, 1995 To June 30, 1996, David C. Levin

Department of Radiology Administrative Documents and Reports

Department of Radiology Annual Report, July 1, 1995 to June 30, 1996. Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States. 110 pages.

A Polymorphism Of A Platelet Glycoprotein Receptor As An Inherited Risk Factor For Coronary Thrombosis., Ethan J. Weiss, Paul F. Bray, Matthew Tayback, Steven P. Schulman, Thomas S. Kickler, Lewis C. Becker, James L. Weiss, Gary Gerstenblith, Pascal J. Goldschmidt-Clermont

Cardeza Foundation for Hematologic Research

BACKGROUND: Platelet glycoprotein IIb/IIIa is a membrane receptor for fibrinogen and von Willebrand factor, and it has an important role in platelet aggregation. It is known to be involved in the pathogenesis of acute coronary syndromes. Previously, we found a high frequency of a particular polymorphism, PlA2, of the gene encoding glycoprotein IIIa in kindreds with a high prevalence of premature myocardial infarction.

METHODS: To investigate the relation between the PlA2 polymorphism and acute coronary syndromes, we conducted a case-control study of 71 case patients with myocardial infarction or unstable angina and 68 inpatient controls without known heart disease. The …

Strategies For Prevention Of Varicella Pneumonia: A Cost-Effectiveness Analysis., G A Macones, S Ewing, N S Silverman

Department of Obstetrics and Gynecology Faculty Papers

OBJECTIVE: The objective of this study was to compare the cost-effectiveness of 3 strategies of serologic enzyme-linked immunosorbent assay (ELISA) testing and post-exposure varicella zoster immune globulin (VZIG) prophylaxis for the prevention of maternal varicella pneumonia during pregnancy in patients with negative or uncertain histories of varicella infection.

METHODS: A decision tree was constructed to compare the following strategies: 1) routine serologic testing for varicella immunity followed by targeted post-exposure VZIG prophylaxis, 2) post-exposure serologic testing followed by targeted VZIG prophylaxis, and 3) untargeted post-exposure VZIG administration. The probabilities for the model were obtained from the medical literature and supplemented …