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.     

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.     

Calmodulin as a modulator of NaCl transport in the posterior salt-transporting gills of the Chinese crab Eriocheir sinensis

The possible involvement of calmodulin-dependent processes in the control of Na⁺ and Cl^- transport pathways has been investigated on isolated, perfused preparations of salt-transporting posterior gills of the euryhaline Chinese crab Eriocheir sinensis (collected near Emden, Germany in autumn 1990). The anti-calmodulin phenothiazine drugs Chlorpromazine and Trifluoperazine induced depolarization of the transepithelial potential only when added to the serosal bathing saline (socalled in). This effect is best interpreted by assuming a disturbance of the conductive Cl^- pathways located at the baso-lateral side of the epithelium. In agreement with that conclusion is the fact that Trifluoperazine inhibits the Cl^- transepithelial influx. Trifluoperazine also induces inhibition of the Na⁺ influx when added either to the incubation (out) or to the perfusion (in) medium. These results indicate inhibitory effects of the anticalmodulin drug on both the Na⁺/K⁺ pump and leak system located at the serosal side and on the Na⁺/H⁺ exchange located at the apical side of the epithelium.     

Characterization of disjunct populations of Zostera marina (eelgrass) from California: genetic differences resolved by restriction-fragment length polymorphisms

Comparative restriction-fragment analysis was used to analyze the nuclear ribosomal DNA, and alcohol dehydrogenase-1 loci of Zostera marina L., for variation within and among populations. Eelgrass is a perennial marine flowering plant that is widespread and ecologically significant throughout the temperate northern hemisphere. A chemical method was developed to obtain restriction-quality DNA without CsCl fractionation from experimentally relevant quantities of seagrass tissues (0.5 to 1.0 g). The yield was 25 g g^-1 fresh weight. The three morphologically distinct forms of Z. marina from disjunct populations examined in this study were found to be genetically distinct; morphologically similar populations were indistinguishable genetically. Genetic distinction also correlated with habitat depth, as subtidal and intertidal populations were clearly divergent. Homologous probes for the 17S and 28S ribosomal DNA genes were used to map 24 restriction sites on the rDNA repeat of Z. marina, which was determined to be about 14 kb in length. At least 1 length mutation and 5 restriction-site changes were identified that distinguished Z. marina populations from San Diego and Monterey Bay (Del Monte Beach) from Z. marina populations from Elkhorn Slough and Tomales Bay. Estimated sequence variation (100×p) between eelgrass populations ranged from 0.00 to 0.69. Individual plants were observed to contain as many as four different rDNA-repeat length variants. The mean number of rDNA-repeat length variants per individual in Z. marina was about two. Intrapopulation variation in rDNA-repeat type was observed in only one individual from the Tomales Bay population.