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.     

Earthquake hazard assessment after Mexico (1985)

The 1985 Mexican earthquake ranks foremost amongst the major earthquake disasters of the twentieth century. One of the few positive aspects of the disaster is that it provided massive quantities of data that would otherwise have been unobtainable. Every opportunity should be taken to incorporate the findings from these data in earthquake hazard assessments. The purpose of this paper is to provide a succinct summary of some of the more important lessons from Mexico. It stems from detailed field investigations, and subsequent analyses, conducted by the author on the behalf of reinsurance companies.     

Design and validation of a practical index for trauma assessment

In the past 20 years a variety of indices have been suggested for measuring the severity of trauma, however none of them meets the requirement of being a simple and objective instrument that can be utilized efficiently by lay persons and providers of health services without previous experience in triaging. A new system has been proposed which meets this requirement and which has been validated with 197 injured persons at the emergency ward of the Valle University Hospital in Call, Colombia. The instrument showed a high level of concordance with the conventional triaging method and classifies victims into four categories: critical with recovery unlikely, critical but recoverable, moderately serious, and ambulatory. There is discussion on the reliability of this instrument and it is recommended that it be validated with victims from larger disasters. Regardless, it has the advantage of being specific and free of the subjectivity that characterizes other indices.     

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.     

The importance of free amino acids to the energy metabolism of eggs and larvae of turbot (Scophthalmus maximus)

A study was undertaken to establish the role of free amino acids (FAA) in aerobic energy dissipation in embryos of turbot (Scophthalmus maximus) which contain an oil globule in the egg. Laboratory-reared developing eggs and larvae (15°C, 34 salinity) were measured for oxygen uptake, ammonia excretion, contents of FAA, protein, and ammonium, and volumes of yolksac and oil globule. Newly spawned eggs from different batches contained 55 to 90 nmol egg^–1 of FAA. Resorption of FAA occurred in parallel with the consumption of yolk. Resorption of the oil globule, however, occurred predominantly after hatching and mainly after yolk resorption. The combined data suggest that approximately 70% of the FAA are utilized as an energy substrate, while the rest are polymerized into body proteins. FAA become a significant energy substrate in the early egg stage and account for 100% of the aerobic energy dissipation 2 d after Fertilization then decrease to ca. 60% at the time of hatching. Lipids derived from the oil globule seem to be the main fuel after hatching and account for ca. 90% of the energy dissipation at the onset of first-feeding. Thus, the energetics of fish embryos which contain an oil globule seems to be different from those that depend exclusively on the nutritional reserves of the yolk.     

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.