Are platelet membrane glycoprotein polymorphisms predictive of arterial thrombosis?
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Humans↗
Biomedical subjects
Benjamin Brenner
Publications and source records attributed to Benjamin Brenner.
Protein C global assay in the evaluation of women with idiopathic pregnancy loss.
Since the majority of thrombophilic defects in women with pregnancy loss are in the protein C pathway, we have prospectively determined the diagnostic value of a protein C global assay in 60 consecutive women with pregnancy loss compared to 61 controls. Protein C activation time normalized ratio (PCAT-NR) in pregnancy loss women was significantly lower than controls (0.74 +/- 0.16 vs. 0.99 +/- 0.2; P < 0.0001). PCAT-NR lower than cut off level of 0.8 were found in 42/60 (70%) of PL women compared to 7/61 (11%) of controls (OR = 18.0, 95% CI: 6.3-53.4, P < 0.0001). Cut-off level of 0.8 successfully identified all pregnancy loss women with abnormality in the protein C pathway (12 factor V Leiden, 7 APC-Resistance without factor V Leiden, 15 low levels of protein S and 1 of protein C). Moreover, PCAT-NR below 0.8 was documented in 15/29 (52%) of PL women without thrombophilic risk factor compared to 3/55 (5%) of controls (OR = 18.6, 95% CI: 4.2-95.2, P < 0.0001). These results suggest that ProC Global may be useful as a screening test for protein C pathway abnormalities and may serve as a new thrombophilic risk factor in women with pregnancy loss.
Abortion, Spontaneous↗
Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor.
Thrombophilic risk factors are associated with thromboembolism in children but data in infants and neonates are not well established. The authors report a series of 9 infants with thrombotic events and the associated genetic risk factors. The clinical and laboratory records of newborns and infants with a history of thrombotic events were summarized, while patients with underlying diseases were excluded. The frequency of the genetic mutations was compared to a control group of 80 children from the same ethnic origin. In 6 patients a cerebrovascular accident was diagnosed and in 3 newborns, CT scan could diagnose antenatal brain infarct. In another 2 patients deep-vein thrombosis associated with femoral catheterization was diagnosed. Seven infants were factor V Leiden heterozygous and another one homozygous. Methylenetetrahydrofolate reductase genotype was found in 5 infants. Five cases were found to be double heterozygous for those two mutations, and another one double heterozygous for FVL and factor II. The results of this small series of patients indicate that cerebrovascular accident is the major thrombotic event in infants and the combination of more than one prothrombotic factors may be the cause of those events. The correct management, including anticoagulant therapy, is still under discussion and waiting for larger series and long-term follow-up results until accurate recommendations can be made.
Factor V↗