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.     

A study of the growth and decay of cigarette smoke NOx in ambient air under controlled conditions

The amount of NO₂ and NO produced by the machine smoking of cigarettes was determined for 15 commercial Canadian brands. Average yield of NO was 1.44 μmoles or about 13% of the average reported for American cigarettes. Levels of NO₂ were less than 12% of NO and were probably due to the oxidation of NO. In order to assess the contribution of tobacco smoke to levels of NO in ambient air, 5 brands of cigarettes were smoked in 27 cubic meter controlled environment room. Ventilation conditions were either 2.5 or 5.0 air changes per hour (ACH) and each experiment was replicated 3 times for a total of 30 experiments. Ventilation rates of 0.3 and 1.5 ACH were also selected in a second series of experiments in which only one brand of cigarette was smoked. Least squares estimates for the effective ventilation rates were obtained in the usual manner after linearizing the decay portion of the NO time curve. In each of the experiments, the regression explained at least 95% of the variation in the levels of NO with time. Loss of NO due to factors other than ventilation appeared to be constant within experimental error and averaged 2.22 ACH. Equilibrium values for NO were grossly underestimated when results from currently accepted proecedures for smoke analysis were used in modeling the growth and decay of NO. Goodness-of-fit was improved when equilibrium values were estimated based on observed levels in ambient air. This approach may be more suitable for evaluating the potential contribution of cigarette smoke to levels of indoor air pollutants.     

Risky health and safety habits related to perceived value of the future

Risk homeostasis theory postulates that people accept a specific level (target level) of risk in a given activity in return for benefits accruing from that activity. It follows that, if people expect a great deal from the future, the less likely they are to jeopardise it by taking risks in respect of their health and safety. One effective method for reducing target level of risk are incentives, and the available literature contains ample evidence of the effectiveness of incentives programmes in accident prevention. As incentives essentially imply an enhanced quality of life in the future, the question arises as to how expectations of the future may be related to health and safety habits. In order to explore the relationship between perceived value of the future and health and safety habits, an analysis of the psychological literature on individual differences in future time orientation/perspective is presented. Four factors are identified: (1) clear ideation of the future, (2) active planning for the future, (3) time pressure, and (4) optimistic expectations about events outside one's own control. It is hypothesised that factors (1) and (2) are associated with positive health and safety habits, while factors (3) and (4) may characterise individuals with relatively high target levels of physical risk. Research questions and procedures for the study of these relationships are discussed.     

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.     

The role of socio-economic data in food needs assessment and monitoring

This paper reviews six case studies examined as part of a project to review targetting methodologies employed by non-government organisations in Africa during the 1984-6 food crisis. Most agencies have not yet fully evaluated the role of data in informing policy decisions during their respective emergency programmes. The case studies presented reflect a wide variety of approaches to targetting emergency food aid that are based largely on the use of 'socio-economic' data. The recent emergency relief operations in Africa seem to indicate a change in relief agencies' approaches to the assessment and monitoring of needs of the affected populations. Earlier dependance on nutritional data has given way to an increasing reliance on the use of socio-economic indicators. There was a wide variation in the case studies of the type of indicators collected and utilised in needs assessment and monitoring. There were those who relied almost exclusively on nutritional data to target resources during the 1984-86 African crisis, and others whose experiences during that period lead them to attach more weight to socio-economic data. Other agencies appear to have recognised the problems of relying solely on nutritional data to target food aid during their 1984–86 emergency programmes, and thus more or less abandoned classical anthropometric surveys in their needs assessment and monitoring methodologies during this period. Thus nutritional data has a less significant role in the decision making process than previously had been the case.     

The qiongshan earthquake of july 1605

In 1605 a destructive earthquake affected the northern region of Hainan Island and adjacent parts of the Chinese mainland. Based on a detailed analysis of contemporary chronicles, the authors present a revision of the effects of the earthquake, and show that a sequence of strong shocks throughout 1605 caused cumulative damage and relatively heavy loss of life in Qiongshan. The subsidence of large areas of coast round Puqian Bay and Dongzhai Port is shown to be due to a combination of liquefaction caused by the shock, the occurrence of a typhoon associated with flooding and exacerbated by a high surge tide, as well as a long-term process of active tectonic movement in the area; the subsidence was not caused by downthrow of the earth's crust during the shock. Topographical changes in the area, traced from historical maps, suggest that subsidence is continuing, but a survey of the long-term seismicity of Hainan Island indicates that it is not an area of exceptional seismic risk.