Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD. Copyright © 2002 John Wiley & Sons, Ltd.     

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases†

Fluorescence in situ hybridization (FISH) was performed with probes specific for chromosomes 13, 18, 21, X and Y on 911 of 11123 (8.2%) amniotic fluid samples submitted to the present authors' laboratory for cytogenetic analysis over an 8-year period. Altogether 3516 hybridizations were performed with an interpretable FISH result on all chromosomes requested in 884/911 (97%) of cases. An uninformative FISH result occurred in 44 hybridizations among 27 cases (3%). Of a total of 89 karyotypically proven cases with aneuploidy that might have been detected by FISH, the overall detection rate was 84%. An inconclusive or incomplete FISH result occurred in 9/89 (10%) of these proven aneuploid cases. In the remaining 80 informative proven aneuploid cases, correct detection of aneuploidy was accomplished in 75/80 (94%) of samples. A false-negative result occurred in the remaining 5/80 (6%) of such informative cases. Eighteen cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Aside from these 18 cases, FISH allowed correct detection of normal disomy in 785/804 (98%) of such cases. An incomplete FISH result occurred in 18 normal disomic cases. There was a single possible ‘false-positive’ FISH result for chromosome 21. Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be a useful laboratory tool for rapid fetal aneuploidy screening during pregnancy. As with all clinical laboratory diagnostic tests, incomplete or inconclusive results (or even interpretive errors) occur in a small percentage of cases. Nevertheless, FISH results accompanied by other data and by appropriate counseling provide clinicians and patients with valuable information for clinical decision-making surrounding family planning and pregnancy management. Copyright © 2001 John Wiley & Sons, Ltd.     

Potential impacts of imposing methyl bromide phaseout on US strawberry growers: a case study of a nomination for a critical use exemption under the Montreal Protocol

The Montreal Protocol on Substances that Deplete the Ozone Layer requires developed countries to phaseout methyl bromide production and non-quarantine uses by 2005 and developing countries to do the same by 2015. Exemptions to phaseout have been significant in slowing the process of abatement; many countries have applied for exemptions for some uses, partly on grounds that phaseout is economically infeasible. Data on the US strawberry market are used to investigate grower costs arising from substitution away from methyl bromide, the impact of trends in and characteristics of the demand for fresh strawberries, and characteristics of trade with countries not yet required to eliminate use of the compound. It appears that actual net costs to growers will be much smaller than the simple increase in production costs cited in the US nomination for exemption.     

Toxic response of endosulfan to breeding and non-breeding female mosquitofish

To investigate if toxic effects by endosulfan, a commonly used insecticide, are dependent on the breeding condition of an organism, both breeding and non-breeding female western mosquitofish, Gambusia affinis, were exposed to 0.1, 0.5, 1 ppb of endosulfan. After a 5-week exposure period, we examined physical factors such as ovary weight and anal fin length in fish of both reproductive conditions and the size of thyroid follicles in non-breeders. Breeding female fish exposed to endosulfan did not show any significant changes in physical factors, but non-breeding females exposed to endosulfan had a significantly greater ratio of anal fin/ body length and larger thyroid follicles than did control females. These results demonstrate that the response to exposure to environmental contaminants may be dependent upon seasonal reproductive condition.     

Preliminary evidence of the role of hydrogen peroxide in the degradation of benzo[a]pyrene by a non-white rot fungus Fusarium solani

In order to study the enzymatic mechanisms involved in the successive steps of BaP degradation by a Deuteromycete fungus Fusarium solani, we developed an indirect approach by using inhibitors of enzymes. We used either specific inhibitors of peroxidases (i.e. salicylhydroxamic acid) and of cytochrome P-450 (i.e. piperonyl butoxyde) or inhibitors of both enzymes (i.e. potassium cyanide). Surprisingly, no expected decrease of BaP degradation was observed with most inhibitors tested. On the contrary, more BaP was degraded. Only butylated hydroxytoluene, which acts as a free radical scavenger, inhibited BaP degradation. The inhibition of these enzymes, which use H(2)O(2) as a cosubstrate, might have resulted in an increase of hydrogen peroxide availability in the fungal cultures. This enhancement could induce formation of reactive oxygen species (ROS) which might be the agents that initiate benzo[a]pyrene oxidation. This study proposed a hypothetic alternative metabolic pathway involved in PAH metabolism by Fusarium solani.     

Uptake of polychlorodibenzo-p-dioxins, polychlorodibenzofurans and coplanar polychlorobiphenyls in chickens

Twelve chickens raised according to commercial standards were fed a diet containing about 30 ng total toxic equivalent (TEQ)/kg for 10 weeks. Persistent pollutants were introduced into the poultry feed via recycled oil to mimic contamination conditions closely resembling those occurring during the Belgian crisis five years ago. Absorption of congeners with the same chlorination degree did not seem to depend on the substitution, demonstrating that unlike for cows, no preferential absorption for 2,3,7,8-substituted compounds could be remarked for chickens. As already observed, absorption decreased with increasing number of chlorines and was not linearly dependent on the octanol/water partition coefficient. On the other hand, no real differences were observed in the absorption of coplanar polychlorinated biphenyls (c-PCBs) with regard to degree of chlorination. When monitored during the course of experiment, concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), dibenzofurans (PCDFs) and c-PCBs in excreta reached an apparent steady state after 5 weeks. Only 2,3,7,8-substituted dioxins or furans were found in tissues and eggs. All organs showed the same congener profile and similar lipid-normalized concentration, except for the liver. Bioconcentration factors were evaluated, highlighting that the liver preferentially retained highly chlorinated congeners. No depletion of dioxin and PCB concentration was observed after 8 and 14 weeks of control diet, but high inter-individual variation occurs.     

Effects of predator visibility on prey encounter: a case study on aerial web weaving spiders

Summary Perhaps the most important factor affecting predator-prey interactions is their encounter probability. Predators must either locate sites where prey are active or attract prey to them, and prey must be able to recognize potential predators and flee before capture. In this study we manipulate and describe three components of the foraging system of predatory, web-weaving spiders, the presence of viscid droplets, silk brightness (achromatic surface reflectance), and visibility of the orb pattern, to determine their effect on insect attraction, recognition, and web avoidance. We found that webs with viscid droplets were more visible to prey at close range, but at greater distances the sparkling droplets lured insects to the web area and hence increased insect capture probability. Although the size of viscid droplets and silk brightness are closely correlated (Table 2, Fig. 3), the relationships among droplet size, spider size, and the visual environments in which webs are found are more complicated (Fig. 2, Tables 2, 3). In environments with predictable light exposure, droplet size and hence silk visibility correlate with spider size, and spiders that forage at night produce relatively more visible silks then spiders that forage during the day (Table 3, Fig. 4). In habitats in which light levels are not predictable, silk surface reflectance and spider size are not closely correlated, suggesting that the complexity of the light environment, as well as the visual and foraging behaviors of insects found there, has played an important role in the evolution of spider-insect interactions.Offprint requests to: C.L. Craig