Unexpected structural chromosome rearrangements in prenatal diagnosis

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.     

Inactivation of Murine Norovirus Suspended in Organic Matter Simulating Actual Conditions of Viral Contamination

Food and Environmental Virology - Foodborne viral illnesses are frequent worldwide and costly for the society. Human norovirus is one of the most common causal agents. Although some norovirus...     

How to foster agroecological innovations? A comparison of participatory design methods

Facing contemporary environmental crisis implies fostering agroecological innovations that take into account local ecological regulations and rely on multiple stakeholders' innovation capacities. This paper draws on two fields of literature that remain unconnected so far: participatory approaches and design sciences. It proposes an analysis grid to support a reflexive analysis of cases of implementation of three participatory design methods: ComMod (Companion Modelling for concerted management of natural resources), Forage Rummy (simulation-based board game for designing farming systems) and KCP (collective design workshops to foster innovation). This analysis highlights key features of the methods in view of agroecological innovation challenges, focusing on knowledge management and organisation for exploration.     

Measurement of cholinesterases in amniotic fluid using a naphthyl acetate as substrate: A possible initial test for prenatal diagnosis of open neural tube defects

A quantitative method for cholinesterases in amniotic fluid using the non-specific substrate α naphthyl acetate and the cholinesterase-specific inhibitor, eserine, is described. This assay was used to test 671 samples of amniotic fluid. The diagnoses for fetal ONTDs, based on the levels of AChE + ChE, were compared with those made for the same samples by the AFP method. Correct diagnoses were made by both methods with amniotic fluid from 35 women carrying fetuses with ONTDs and 631 carrying normal fetuses. There were five false-positive test results for normal fetuses by both methods when the cut-off points were 5 standard deviations above the mean for AFP and above the upper limit of the normal range (7. 5 milliunits) for cholinesterase (AChE + ChE). None of the false-positive samples from either method had the acetylcholinesterase band of activity characteristic of ONTDs after gel electrophoresis. In addition to the above 671 samples, 37 pregnancies with serious fetal abnormalities other than ONTDs were tested. Two were identified by both the AFP and AChE + ChE methods, two more by AFP assay and one other by the AChE + ChE assay.     

Mammalian hairs in Early Cretaceous amber

Two mammalian hairs have been found in association with an empty puparium in a ∼100-million-year-old amber (Early Cretaceous) from France. Although hair is known to be an ancestral, ubiquitous feature in the crown Mammalia, the structure of Mesozoic hair has never been described. In contrast to fur and hair of some Jurassic and Cretaceous mammals preserved as carbonized filaments, the exceptional preservation of the fossils described here allows for the study of the cuticular structure. Results show the oldest direct evidence of hair with a modern scale pattern. This discovery implies that the morphology of hair cuticula may have remained unchanged throughout most of mammalian evolution. The association of these hairs with a possible fly puparium provides paleoecological information and indicates peculiar taphonomic conditions.     

Intrauterine brain teratoma: a case report of imaging (US,MRI) with neuropathologic correlations

Fetal brain tumors are rare and teratoma is considered as the most common. Fetal MR Imaging is currently used to evaluate cases of ventricular dilatation. We report a case of cerebral immature teratoma detected by ultrasonography because of ventricular dilatation at 24 gestational weeks. MRI was the more accurate imaging method in depicting the tumor and its consequences on brain development as well as in taking a decision with regard to the management of pregnancy. Copyright © 2003 John Wiley & Sons, Ltd.     

Experience with first trimester prenatal diagnosis of Menkes disease

We have performed 28 first trimester diagnoses for Menkes disease in 27 high risk pregnancies by direct copper measurement on chorionic villi (c.v.) Two male fetuses were found to be affected because of significantly increased copper content. In one male fetus a slightly increased copper content was observed indicating an exogenous copper contamination of the sample. This view was supported by normal results observed after abortion. Three out of 15 diagnostic c.v. samples with a female karyotype showed increased copper levels. In two of these cases, part of the copper content might have been released from the cannulae used for these particular biopsies. Histochemical visualization of copper accumulation in fixed chorionic villi of two affected fetuses and one female fetus was observed. [⁶⁴Cu]-uptake studies have been performed on 11 diagnostic and 10 control c.v. samples. As the control samples in some cases were found to incorporate more [⁶⁴Cu] than the corresponding diagnostic sample, this method cannot at present be used for diagnosis. Compiled results on newborn females gave evidence that two carriers expressed the paternal X-chromosome, and two carriers expressed the maternal X-chromosome in chorionic villi.