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.     

Analysis of Environmental and Socio-economic Determinants Affecting Population Longevity Level at County Level in China

INTRODUCTIONIn recent thirty years, due to the decreasing fertility andincreasing life expectancy, China's population is aging ata very rapid pace and the elderly population size is keepingon growing. During the dramatic aging progress, the oldestold group in China is catching our eyes. More and moreold people of China are becoming the oldest old. Theextremely old population (aged 80 and above) is increasingat 5.1% annually, while the old population above 65 isincreasing at 2.9%, and the…     

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.     

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.     

Planktonic bioluminescence in the pack ice and the marginal ice zone of the Beaufort Sea

An icebreaker cruise into the Beaufort Sea in the fall of 1986 provided a unique opportunity for studying planktonic bioluminescence in ice fields and in the marginal ice zone. Bathyphotometer casts (bioluminescence intensity, seawater temperature, beam attenuation coefficient, and salinity) and biological collections were made to a depth of 100 m. A light budget, which describes the planktonic species responsible for the measured bioluminescence, and a dinoflagellate species budget were constructed from the mean light output from luminescent plankton and plankton counts. The vertical distribution of bioluminescence among the ice stations was similar. The maximum intensities were 2 to 8×10⁶ photons s^-1 cm^-3 in the upper 50 m of the sea-ice interface. The marginal ice zone station (MIZ) exhibited a maximum intensity of 2 to 3×10⁸ photons s^-1 cm^-3 between 5 and 30 m depth. At Ice Station 2, Metridia longa and their nauplii contributed approximately 80% of stimulable bioluminescence in the upper 10 m but, overall, Protoperidinium spp. dinoflagellates contributed most of the light to a depth of 100 m. In the MIZ, Protoperidinium spp. dinoflagellates contributed 90% of the light within the upper 10 m, decreasing to 43% of the contributed light at a depth of 40 m. Below 40 m, dinoflagellate bioluminescence decreased to a few percent of the total to a depth of 90 m. Metridia spp. copepods contributed more than 50% of the light at depths from 40 to 90 m. Ostracods, larvaceans, and euphausiid furcilia contributed <1% of all bioluminescence at all depths sampled. Correlation analyses between measured bioluminescence (photons s^-1 cm^-3), the number of bioluminescent dinoflagellates and the light budget for the MIZ indicated highly significant associations: r=0.919, p=0.001, and r=0.912, p<0.001, respectively (Student's two-tailed t-tests). Bioluminescence was negatively correlated with seawater salinity at all stations (p=0.001). Maximum bioluminescence was measured in the less saline surface waters at all stations.     

Bacterivory: a novel dual role for thraustochytrids in the sea

Two thraustochytrids, Thraustochytrium striatum Schneider and Schizochytrium mangrovei Raghukumar, isolated in 1989 in axenic cultures using pine pollen in seawater from mangroves in Goa, India, were observed in continuous-flow chambers. When grown in the presence of bacteria, both species produced amoebae, which moved using pseudopodia and phagocytosed bacterial cells. Several amoebae were produced in sporangia, or isolated vegetative cells transformed directly into amoebae. These findings were confirmed with several single-cell isolations of the protists. The demonstration of phagotrophic amoebae in these organisms suggests a dual role for thraustochytrids in nature, namely a fungus-like breakdown of complex organic molecules as well as bacterivory. This phenomenon also places the thraustochytrics in a unique relationship with many other protistan groups.