Use of recombinant factor VIIa in infants with severe coagulopathy.

The risk of hemorrhage in infants with severe coagulopathies unresponsive to fresh frozen plasma (FFP) infusions may preclude therapeutic invasive interventional procedures. We describe the successful use of recombinant factor VIIa (rFVIIa) in two such infants, the first with cirrhosis requiring paracentesis and the second with necrotizing enterocolitis requiring laparotomy. This report reviews the current concepts on the mechanism of action of the drug rFVIIa and considers its expanded use in infants unresponsive to FFP replacement.     

European Association of Clinical Anatomy 6th congress, Montpellier, September 13-15th 2001

The 6^th EACA congress was held in Montpellier September 13-15^th 2001, under the presidency of Prof. F Bonnel. It gathered about 120 participants, from 22 countries. Because of the terrorist attack of September 11^th, our American colleagues were absent. Friday September 14^th at noon, we observed a long while of silence in the memory of the terrorist attack victims. Of course, because the congress took place in France, the French representatives were the most numerous. Beside the usual participation of European countries (Austria, Romania, Turkey, Germany, Poland, Czech Republic, UK, Portugal, Italy, Spain, Danmark, Hungary, Belgium, Yougoslavia), we were pleased to welcome numerous colleagues from South Africa and from Asia, especially from Japan, India and, for the first time, a large representation from South Korea.     

A mammary gland adenomyoepithelioma in a C57BL/6 mouse

Mammary gland adenomyoepitheliomas are benign complex mammary gland tumors composed of neoplastic cells of epithelial and myoepithelial origins, described in many species (humans, dogs, cats, rats) and rarely in mice. We report here an adenomyoepithelioma in a C57BL/6 female mouse. Histologically, tubes and cords formed by neoplastic epithelial cells were separated by bundles of neoplastic myoepithelial cells in a clear and partially mucinous matrix. The tumor displayed characteristics of a benign neoplastic proliferation with a compressive growth pattern, and moderate cellular pleomorphism and mitotic index. At immunohistochemistry, the epithelial cells were strongly cytokeratin positive; the myoepithelial cells were weakly cytokeratin positive and strongly smooth muscle actin positive. This is to our knowledge, the first report of a mammary gland adenomyoepithelioma in a C57BL/6 mouse.     

Smoking and female infertility: a systematic review and meta-analysis

The high prevalence of smoking among women in their reproductive years continues to be a matter of concern. The negative effects of smoking on general health are well known, but smoking may also affect fertility. The objective of the present study was to perform a systematic review of the literature to determine whether there is an association between smoking and risk of infertility in women of reproductive age, and to assess the size of this effect. In the 12 studies used for this meta- analysis, the overall value of the odds ratio (OR) for risk of infertility in women smokers versus non-smokers was 1.60 [95% confidence interval (CI) 1.34-1.91]. Studies of subfertile women undergoing in-vitro fertilization (IVF) treatment also show a reduction in fecundity among women smokers. A meta-analysis of nine studies found an OR of 0.66 (95% CI 0.49-0.88) for pregnancies per number of IVF- treated cycles in smokers versus non-smokers. Despite the potential limitations of meta-analyses of observational studies, the evidence presented in this review is compelling because of the consistency of effect across different study designs, sample size and types of outcome. However, continued reassurance is needed that the calculated overall effect is not in fact due to confounding variables.      

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X- linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3' end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein.