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.     

Paleoecology and dynamics of forest ecosystems in Central Evenkia during the past 2400 years

New data on the composition of surface assemblages of plant macroremains from soil and swamp samples have been obtained in the study of geomorphologically different localities in the middle reaches of the Nizhnyaya Tunguska River. The results of paleocarpological analysis of forest soil sections supported by relevant palynological and geochronological data are presented. Natural changes of the forest cover over the past 2400 years and quantitative characteristics of the paleoclimate during each stage are described.Translated from Ekologiya, No. 1, 2005, pp. 3–10.Original Russian Text Copyright © 2005 by Koshkarova, Koshkarov.     

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.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

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.     

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.     

Vertical profiles of bacterial abundance,productivity and growth rates in coastal sediments of the central Great Barrier Reef lagoon

Vertical patterns of bacterial densities, productivity and specific growth rates in coastal muds, quartz sands and muddy sands of the central Great Barrier Reef lagoon were examined in summer (February) and autumn (May) 1988. Variations in these parameters with station location, sediment depth and season were complex, exhibiting significant main and interaction effects in most instances. Some trends were apparent despite the large and complex variations. Bacterial densities did not vary seasonally, ranging from 2.9 to 38.1×10⁹ cells g^-1 dry wt, averaged over sediment depth (0 to 20 cm) and seasons. Trend analysis revealed that densities decreased with increasing sediment depth. Bacterial production (tritiated thymidine incorporation into DNA) was high, ranging from 0.4 to 5.7 gCm^-2 d^-1 (integrated over 10 cm depth), as were specific growth rates (grand mean, =0.25 d^-1; range=0.004 to 1.3 d^-1). Both were generally higher in summer than in autumn. Vertical profiles of productivity and specific growth rates revealed actively growing bacterial assemblages down to 20 cm depth. Factors which may account for these very abundant and productive communities are: (1) subsurface accumulations of detritus exported from adjacent mangrove forests, and (2) physical disturbance from tidal scouring and severe climate (e.g. cyclones, wet-season floods). Disturbance events occur frequently enough to inhibit the development of highly sulphidic conditions, but stimulate production of bacterial types (aerobes, fermenters) capable of incorporating labelled thymidine into their DNA.