Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Utility of stormwater monitoring.

Stormwater runoff is now a major contributor to the pollution of coastal waters in the United States. Public agencies are responding by requiring stormwater monitoring to satisfy the National Pollutant Discharge Elimination System stormwater permit. However, studies to understand the utility of the current programs or to improve their usefulness have not yet been performed. In this paper, we evaluate the land-use-based program, the industrial stormwater permit program, and beach water-quality monitoring in the County of Los Angeles, California, to determine if the results will be helpful to planners and regulators in abating stormwater pollution. The utility of the program has been assessed based on the programs' ability to accurately estimate the emissions for different classes of land use. The land-use program appears successful, while the industrial monitoring program does not. Beach water-quality monitoring suffers from a lack of real-time monitoring techniques. We also provide suggested improvements, such as sampling method and time, and parameter selection.     

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.     

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.