Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Surveillance for adverse health effects following a chemical release in west virginia

On 11 August 1985, a large inadvertent release occurred from a chemical manufacturing plant in Institute, West Virginia. The emission was related to overheating of a storage tank that contained chemicals for the production of aldicarb, a cholinesterase inhibiting pesticide. As a result of this emission, 136 persons were treated in five local emergency rooms, 29 of whom were hospitalized for one or more days, mostly for observation. No fatalities resulted. Interviews with treated persons and non-treated community residents confirmed that the health effects were transient and compatible with exposure to irritating vapors rather than with exposure to methyl isocyanate (a chemical used in the process) or to aldicarb. Only 5% of the treated persons and 5% of the community residents surveyed were adequately warned of the emission by the plant siren. Because persons in the nearby community are potentially vulnerable to chemical injury, we recommend the development of an improved warning system, a formal evacuation procedure, and other measures to limit exposure of persons in this area in the event of a future release.     

Lipid content of some Caribbean corals in relation to depth and light

Three procedures for the extraction of coral lipids were compared and a rapid and effective method for future use is suggested. This method was used to measure the lipid content of the branching coral Porites porites (Pallas) and the massive corals Montastrea annularis (Ellis and Solander) and Siderastrea siderea (Ellis and Solander) during July and August 1991. P. porites and M. annularis were sampled on two fringing reefs, each characterised by different water quality affecting light transmission, and at depths of down to 30 m on a barrier reef on the west coast of the island. m. annularis contained, on average, 29% of dry weight as lipid, and there were no significant differences in lipid levels between corals sampled on either fringing reef at 3 and 6 m, or between fringing reefs and the barrier reef at 13, 20 or 30 m depth. Five samples were also taken from a single massive colony of S. siderea at 3 m on a fringing reef and at 13, 20 and 30 m depth on the barrier reef. Values for lipid ranged from 26 to 35% of dry tissue weight. P. porites from 3 and 6 m depth on both fringing reefs contained the same amount of lipid (11% of dry tissue weight). However, at 13 m depth on the barrier reef this coral contained significantly less lipid (8.5% of dry tissue weight). This difference may be attributable to a higher nutritional intake by P. porites on the fringing reefs.     

Stabilimenta characteristics of the spider Argiope argentata on small islands: support of the predator-defense hypothesis

Summary A variety of orb-weaving spider species construct stabilimenta, patterned areas of dense silk, typically near the hub of the orb. The adaptive significance of this construction, along with associated behaviors such as shuttling and vibrating, is much debated. Arigiope argentata on small islands of the Bahamas frequently possess stabilimenta; we studied 397 individuals of this species to investigate possible functions of their stabilimenta, paying particular attention to predator-defense hypotheses. Cruciform stabilimenta were commoner in all size classes of spiders than discoid stabilimenta or no stabilimentum at all; discoid stabilimenta occurred mostly among intermediate size classes. Within the cruciform type, two-segmented stabilimenta were especially common among the very smallest spiders. Size of cruciform stabilimenta showed a curvilinear relation to spider body length; the fitted curve for total segment length had a maximum at an intermediate spider length. We argue that this relationship (among other phenomena) supports an apparently-larger-size hypothesis, whereby intermediate-sized spiders in particular appear much larger than they actually are. This could discourage predators, including those that are gape-limited such as lizards. We argue that stabilimenta in the smallest spiders, in which typically two segments are opposed, so that they more or less line up, serve as camouflage. When disturbed experimentally, spiders with discoid stabilimenta shuttle to the opposite side of the centrally located stabilimentum. This seems an obvious defensive behavior and occurs less frequently among spiders with cruciform stabilimenta. Large spiders vibrate more frequently than small ones, but no relation exists between vibration frequency and stabilimentum type. We argue (see also Tolbert 1975) that vibrating behavior, in which the spider can become a blur, renders its location more difficult to discern and the spider more difficult to grasp, rather than increasing apparent size. Correspondence to: T.W. Schoener