Qualité et interprétation des examens du bilan biologique de thrombophilie constitutionnelle Cas particulier des principaux inhibiteurs: antithrombine, protéine C et protéine S

Biological screening for hereditary thrombophilia must be performed with constant concern for quality of the results and the interpretation. Different guidelines are available common to most laboratory tests, common to hemostasis tests, thrombophilia screening or specific for each test. These different steps are discussed in this paper with a special focus on the diagnosis of antithrombin, protein C and protein S deficiencies.     

Genotoxicity of ptaquiloside, a bracken carcinogen, in the hepatocyte primary culture/DNA-repair test

The genotoxicity of ptaquiloside (PT), recently isolated from bracken fern and shown to be carcinogenic, was examined by means of the hepatocyte primary culture/DNA-repair test. PT elicited clear unscheduled DNA synthesis with a dose-response effect. The result indicates that PT is a genotoxic carcinogen.     

Establishment and Characterization of Cell Lines from Homozygous Brachyury (T/T) Embryos of the Mouse

Lethal mutations in the T/t complex cause stage-specific morphologic abnormalities during early embryogenesis of mice. Although mutant embryos are lethal at the early stages of development, we have succeeded in establishing several cell lines from one of these mutants ( T/T ). Mutant-specific abnormality was not observed in gross morphology and growth patterns of cells. They, however, retained the characters of freshly dissociated embryonic cells to form smaller aggregates than the wild-type in rotation-mediated aggregation.
One of the T/T cell lines (T-1) formed tumors when injected into one-day-old syngeneic and allogeneic host, Expression of H-2 antigens was serologically studied with H-2 specificity 5 as a marker antigen. All lines except T-1 were shown to have this specificity.     

Decomposition Patterns of Foliar Litter and Deadwood in Managed and Unmanaged Stands: A 13-Year Experiment in Boreal Mixedwoods

Litter decomposition is a major driver of carbon (C) and nitrogen (N) cycles in forest ecosystems and has major implications for C sequestration and nutrient availability. However, empirical information regarding long-term decomposition rates of foliage and wood remains rare. In this study, we assessed long-term C and N dynamics (12–13 years) during decomposition of foliage and wood for three boreal tree species, under a range of harvesting intensities and slash treatments. We used model selection based on the second-order Akaike’s Information Criterion to determine which decomposition model had the most support. The double-exponential model provided a good fit to C mass loss for foliage of trembling aspen, white spruce, and balsam fir, as well as aspen wood. These litters underwent a rapid initial phase of leaching and mineralisation, followed by a slow decomposition. In contrast, for spruce and fir wood, the single-exponential model had the most support. The long-term average decay rate of wood was faster than that of foliage for aspen, but not of conifers. However, we found no evidence that fir and spruce wood decomposed at slower rates than the recalcitrant fraction of their foliage. The critical C:N ratios, at which net N mineralisation began, were higher for wood than for foliage. Long-term decay rates following clear-cutting were either similar or faster than those observed in control stands, depending on litter material, tree species, and slash treatment. The critical C:N ratios were reached later and decreased for all conifer litters following stem-only clear-cutting, indicating increased N retention in harvested sites with high slash loads. Partial harvesting had weak effects on C and N dynamics of decaying litters. A comprehensive understanding of the long-term patterns and controls of C and N dynamics following forest disturbance would improve our ability to forecast the implications of forest harvesting for C sequestration and nutrient availability.     

Familial breast/ovarian cancer and BRCA1/2 genetic screening: the role of immunohistochemistry as an additional method in the selection of patients.

Only 20-25% of families screened for BRCA1/2 mutations are found positive. Because only a positive result is informative, we studied the role of BRCA1/2 immunohistochemistry as an additional method for patient selection. From 53 high-risk-affected probands, 18 (34%) had available paraffin blocks of their tumors and were selected for this study. Mutation screening was done by conformation-sensitive gel electrophoresis and multiplex ligation-dependent probe amplification. For immunohistochemistry, 21 neoplastic specimens (15 breast carcinomas, 5 ovary neoplasms, and 1 rectal adenocarcinoma) were analyzed with BRCA1 (monoclonal antibody, Ab-1, oncogene) and BRCA2 (polyclonal antibody, Ab-2, oncogene) antibodies. Absence of the BRCA1 protein was confirmed in negative tumors by Western blotting. Seven patients were positive for BRCA1/2 mutations: 5 for BRCA1 and 2 for BRCA2. Four out of five positive patients had tumors negative for BRCA1 immunostaining, and the remaining 13 BRCA1-negative patients had positive BRCA1 immunostaining in all tumor samples. Sensitivity to predict for BRCA1 mutation carriers was 80%, and specificity was 100%, with a positive predictive value of 100% and a negative predictive value of 93%. This correlation was statistically significant (p=0.001). No correlation was observed for BRCA2. If larger studies confirm these results, high-risk patients with BRCA1-negative tumors should be screened first for this gene.