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.     

Site characteristics,growth and nutrition of natural red pine stands in newfoundland

Red pine (Pinus resinosa Ait.) is rare (< 15 000 mature trees) in Newfoundland and is known from only 22 locations in the central region. Red pine occupies 3 major site types in Newfoundland: 1) red pine on medium-textured sands (RP1), 2) red pine on coarse-textured glaciofluvial deposits (RP2), and 3) red pine on Folisols over bedrock (RP3). The succession of red pine site types after cutting is from red pine to Kalmia-black spruce (Picea mariana (Mill.) B.S.P.) for RP1, and to Cladonia-Kalmia-black spruce for types RP2 and RP3. Succession after fire is usually to the pre-fire type, but this depends on the severity of the fire.Although occupying a relatively poor site, red pine at 60–70 years reaches heights in excess of 18 m, dbh in excess of 40 cm, and individual tree volumes greater than 1 m³ were recorded in 75 stemanalyzed fire-killed trees. Black spruce on that same site produces less than one-third that volume in 60 years. Merchantable volume of 140–280 m³ ha^-1 were recorded i.e., Canada Land Inventory (CLI) forest capability class 5 and class 4 ratings. This raises the CLI rating two capability classes if red pine were occupying these poor quality sites over black spruce. In terms of nutrition, even the best growing red pine are nitrogen (N) deficient as shown by foliar analysis. All natural stands have foliar N concentrations below 1.3% which is the critically low level shown in the literature. Immediately after fire, foliar concentrations reach this level but are usually about 1% or less. Most other nutrients are low but are within the generally reported adequate levels in testing for P, K, Ca and Mg.Fire influences soil nutrient availability as pH increases in the RP1 type. Burning temperature also affects soil pH and the understory vegetation. The RP2 type loses more N in hotter burns on this site type and more N is tied up in these ortstein hardpan soils. The pattern of regeneration following wildfire is related to slope, density, age and species mixture of the stand as well as the thickness and composition of the duff layer.     

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.     

Effects of high temperature on larval development and metamorphosis of Arachnoides placenta (Echinodermata: Echinoidea)

Adults of the sea urchin Arachnoides placenta (L.) were induced to spawn, and eggs were fertilized at 28°C in September 1989. After 5 min, eggs were transferred to 28, 31, 34, or 37°C and reared to metamorphosis. Embryos were observed at 20-min intervals during the first 2 h; larvae were observed daily. The cleavage was higher at higher temperatures. Embryos reared at 28°C were still at the 4th cleavage (16-cell stage) after 100 min, while those at 34°C had reached the 5th cleavage (32-cell stage). All embryos reared at 37°C died on the second day. Incidence of abnormality was 20 to 30% at 28 and 31°C, 48% at 34°C, and 77% at 37°C. The 8-arm stage was reached after 4 d at 28°C, 3 d at 31°C and 2 d at 34°C. Larvae displayed decreasing body length and arm length with increasing temperature. Larvae at 31°C have relatively long arms, as a result of a decrease in body length, not because of increased arm length. Incidence of metamorphosis was 43.9±1.7% (mean/plusmn;SD) at 28°C, 24.5±1.9% at 31°C, and 5.3% at 34°C. The size of metamorphosed juveniles was significantly larger at 28°C than at 31 and 34°C. Temperatures of 31°C negatively affect larvae and juveniles of the sand dollar.     

The effect of selenium on fluoride — clay interactions: Possible environmental health implications

Previous epidemiological studies have shown that dental fluorosis is endemic in the lowland, dry zone of Sri Lanka, which is considered to be an area in which excessive quantities of fluorides are present in the drinking water supplies. It has been found that kaolinitic clay forms a suitable raw material in the defluoridation of water.It is shown that there is a noticeable effect of selenium and media pH on the reactions involved in the interaction of fluoride with clay. In this study, 1 mM fluoride solutions containing SeO ₃ ^2– (selenite) concentrations of 0 mM, 0.1 mM, 0.5 mM and 1 mM were used in the reactions with kaolinitic clay. The effect of pH was monitored in the range 4 to 8. It was observed that fluoride adsorption was maximum at a pH of 5.6 without either SeO ₃ ^2– or SeO ₄ ^2– , the adsorption capacity being 15.2 mol F^– g^–1 clay. However, when the SeO ₃ ^2– concentration was increased up to 0.5 mM at this optimum pH, the adsorption capacity reduced to 12.8 mol F^– g^–1 clay. Monitoring of the effect of SeO ₄ ^2– and media pH on fluoride adsorption showed that when the SeO ₄ ^2– concentration increases from zero to 0.1 mM, there is a reduction of fluoride adsorption capacity. However, when the SeO ₄ ^2– concentration is further increased from 0.1 mM to 1.0 mM, there was an increase in the fluoride adsorption capacity, indicating a more consistent effect of SeO ₃ ^2– on fluoride-kaolinitic clay interaction than SeO ₄ ^2– .Fluoride concentrations in drinking water supplies have a marked effect on dental health and the geochemistry of selenium appears to play an important role in the geochemical mobility of fluoride ions.