Pseudomosaicism for trisomy 13: Three case reports

Pseudomosaicism is of particular concern in prenatal diagnosis when it involves mosaicism for a cytogenetic abnormality associated with a clinical syndrome which is compatible with postnatal life, such as trisomies for chromosomes 13, 18, and 21. The lack of data regarding the outcome of pregnancies involving these specific kinds of pseudomosaicism makes genetic counselling difficult. Three cases of prenatal diagnosis of pseudomosaicism for trisomy 13, each of which had a normal outcome, will be presented (Tables 1 and 2). The three main areas for consideration are: (1) the genetic counselling issues, (2) the additional prenatal diagnostic options available to evaluate the status of the fetus in an attempt to identify some of the clinical features of trisomy 13, and (3) the outcome of the pregnancies.     

Persistent organochlorines in the serum of the non-occupationally exposed New Zealand population

Concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), polychlorinated biphenyls (PCBs), and organochlorine pesticides were measured in the serum of a sample of the New Zealand population aged 15 years and older. This was the first study to obtain representative measures of PCDDs, PCDFs and PCBs in the adult population of an entire country. Serum samples were obtained in 1996-1997. Potentially occupationally exposed individuals were excluded. Serum samples were pooled according to stratification criteria for area of residence, ethnicity, age, and sex. Of the 80 possible strata, sufficient serum for chemical analysis was available for 60, to which 1,834 individual samples contributed. For the PCDDs and PCDFs, most 2,3,7,8-chlorinated congeners were measured in all strata, with a mean toxic equivalents concentration across all strata of 12.8 ng TEQ kg(-1) lipid. Seven PCB congeners were frequently measured, including the coplanar congeners #126 and #169, quantified in all strata. Of the pesticides and their metabolites, only beta-HCH, dieldrin and pp'-DDE were consistently detected across strata. There was a general trend of increasing concentration with age. There were no consistent differences between the sexes, or between people of Maori (the indigenous people of New Zealand) and non-Maori ethnicity. Concentrations of PCDDs and PCDFs tended to increase in a North-South direction, possibly reflecting greater levels of industrialization and population concentration, and concentrations of the pesticide products were highest in the South, possibly reflecting historical use patterns. Results were consistent with a recent study of concentrations of these compounds in the milk of first-time mothers.     

RNA interference-based (RNAi) suppression of AtMPK6, an Arabidopsis mitogen-activated protein kinase, results in hypersensitivity to ozone and misregulation of AtMPK3

The recent increase in tropospheric ozone (O(3)) concentrations promotes additional oxidative stress through the production of reactive oxygen species (ROS) in plant tissues, resulting in the activation of genes whose products enable the stressed cells to retain their integrity and function. This response is made possible by an integration of highly regulated signaling networks that mediate the perception of, and response to, this oxidative assault. In Arabidopsis thaliana, ROS-induced signaling has been shown to flow through a protein phosphorylation cascade involving the mitogen-activated protein kinases (MAPKs) AtMPK3 (MPK3) and AtMPK6 (MPK6). We found that RNAi-mediated silencing of MPK6 renders the plant more sensitive to ozone, as determined by visible leaf damage. The MPK6-RNAi genotype also displayed a more intense and prolonged activation of MPK3 compared to that of WT plants. An MPK3 loss-of-function genotype is similarly very sensitive to ozone, and displays an abnormally prolonged MPK6 activation profile, suggesting reciprocity in regulation between these two MAPKs.     

Protocol for early detection and evaluation of inhibitory wastewater using combined aerobic respirometric and anaerobic batch techniques.

Faced with the task of treating significant volumes of complex industrial wastewaters, the biological components of municipal wastewater treatment plants are operating under the risk of toxic or inhibitory contaminants from the industrial effluents that may be detrimental to their operation. This might lead to undesirable effluent toxicity and/or result in permit violations. Therefore, there is a need for upset early warning systems that can protect full-scale plants from toxic or inhibitory constituents in the incoming wastewaters. This study focused on the development of a protocol for rapid detection of potentially toxic inhibitory or toxic wastewaters using combined aerobic respirometric and anaerobic batch techniques. Aerobic respirometers equipped with automated data acquisition systems were used as potential early warning devices. The inhibition effect on carbon and nitrogen oxidation was assessed. The degree of inhibition was evaluated as the concentration causing 50% reduction in microbial activity, which was estimated by an inhibition model. Anaerobic toxicity assays were also conducted to evaluate the inhibitory effects of the toxic compounds to anaerobic inocula obtained from a master culture reactor fed with ethanol. The developed protocol for early detection of toxicity was validated using wastewater samples from a biotechnology industry and a food processing industry, and pure chemicals such as furfural and phenol. Varying degrees of sensitivity were observed in the study when different groups of microorganisms, wastewater samples, and chemicals were tested. The comparison of aerobic and anaerobic inhibition suggested the importance of using both aerobic and anaerobic cultures to maximize the necessary sensitivity of the protocol.     

Comparison of the 1-hr and 8-hr National Ambient Air Quality Standards for ozone using Models-3

In 1997, the U.S. Environmental Protection Agency revised the National Ambient Air Quality Standard governing ozone (O3), adding an 8-hr standard of 0.08 ppm and phasing out the 1-hr requirement of 0.12 ppm. The 8-hr standard is intended to provide greater protection for human health. This research examines spatial and temporal patterns of exceedances of the standards using monitoring data and modeled estimates. The Penn State/National Center for Atmospheric Research Mesoscale Model and Models-3 framework were used to estimate hourly O3 concentrations for 4-km resolution in the Maryland/Virginia/Delaware/Washington, DC, and northern Georgia domains. Results reveal that the spatial and temporal nature of compliance is considerably different under the 8-hr standard. In the modeling simulations, the 8-hr standard was exceeded 2-5.2 times more often and in a 1.8-16.2 times larger area than the 1-hr standard. The 8-hr standard was exceeded in areas that generally comply with the 1-hr standard and are not well covered by the monitoring network. These results imply that a larger population resides in areas with unhealthy O3 levels than noncompliance with the original 1-hr standard suggests. For the MD/VA/DE/DC domains, 80 and 98% of the total population live in areas with 8-hr National Ambient Air Quality Standards (NAAQS) exceedances for the 1990 and 1995 episodes, respectively.     

Driving performance comparing older versus younger drivers

Objectives: A cross-sectional study was conducted at the Touro University California campus to compare differences in reaction times and driving performance of younger adult drivers (18–40 years) and older adult drivers (60 years and older). Each test group consisted of 38 participants.

Methods: A Simple Visual Reaction Test (SVRT) tool was used to measure reaction times. The STISIM Drive M100 driving simulator was used to assess driving parameters. Driving performance parameters included mean lane position, standard deviation of mean lane position measured, mean speed, standard deviation of mean speed, car-following delay, car-following modulus, car-following coherence, off-road accidents, collisions, pedestrians hit, and traffic light tickets.

Results: Compared to younger participants, older drivers experienced significantly slower reaction times (510.0 ± 208.8 vs. 372.4 ± 96.1 ms, P =.0004), had more collisions (0.18 ± 0.39 vs. none, P =.0044), drove slower (44.6 ± 6.6 vs. 54.9 ± 11.7 mph, P <.0001), deviated less in speed (12.6 ± 4.3 vs. 16.8 ± 6.3, P =.0011), and were less able to maintain a constant distance behind a pace car (0.42 ± 0.23 vs. 0.59 ± 0.24; P =.0025).

Conclusions: Differences exist in driving patterns of older and younger drivers as measured by reaction times and driving simulator outcomes. These results are the first to compare these 2 specific adult age groups' driving performance as measured by a standardized driving simulator scenario. Identifying these differences is essential in addressing them and preventing future traffic injuries.     

Responses to extreme seasonality in food supply: diet plasticity in Antarctic brachiopods

The ice gouged, shallow, polar seabed is a challenging place to live, but suspension feeders are particularly rich and abundant there. The extreme seasonality of food supply from phytoplankton at high latitudes, combined with very stable temperatures has not, however, reduced the range of life history adaptations. Some species extend feeding and growing periods by concentrating on smaller, lower biomass but longer duration, fractions of phytoplankton. Here we show that shallow-water Antarctic brachiopods can switch from pelagic to benthic food sources when required. Like most suspension feeders they utilise the extremely abundant summer phytoplankton blooms, but unlike many other groups brachiopods do not appear to become dormant in winter. In shallow sites around the world wind and wave action resuspend benthic material, making it available to filter feeders. Widespread ice disturbance at polar latitudes may also cause resuspension enhancing local food supply. Articulate brachiopods have blind-ended guts and probably feed little once a large bolus of food has been collected, so a resuspension event may represent a significant enhancement of yearly food availability. The key to their ability to utilise unpredictable food sources is the same trait responsible for their polar success; very low maintenance costs and a catholic diet. Utilising resuspended material could be an important factor in global brachiopod distributions. Previously difficult to explain high brachiopod densities in New Zealand, Northwest Europe and the Canadian Pacific Coast may occur because these areas are all in the worlds windiest, and hence strongest resuspension, latitudes.Communicated by J.P. Thorpe, Port Erin     

A comparative study of photoadaptation in four diatoms isolated as endosymbionts from larger foraminifera

Four endosymbiotic diatoms were isolated from 2 species of larger foraminifera collected in the Red Sea and Hawaii. The photoadaptive responses of the cultured diatoms were measured at 312, 19 and 7 W cm^-2. Two of the diatoms (Fragilaria shiloi and Nitzschia laevis), both isolated from Amphistegina lessonii, grew fastest at 312 W cm^-2. The other two diatoms (N. valdestriata and N. panduriformis) which were isolated from Heterostegina depressa, grew best at 19 W cm^-2. Of the four diatoms, F. shiloi grew best at high light levels. Also in F. shiloi, chlorophyll c content per cell was directly proportional to light intensity; in contrast chlorophyll a and carotenoids increased to maxima at 19 W cm^-2. The chlorophyll a and c and carotenoid content of N. valdestriata were also maximal at 19 W cm^-2. Photosynthetic rates, measured by respirometry, suggested that the diatoms were photoinhibited at higher light intensities and did well at moderately low light intensities (175W cm^-2). The photocompensation points of all 4 diatoms were about 2% of the light available in the spring at 1-m depth at Elat on the Red Sea. At Elat the photocompensation point would lie between 40 and 50 m if the algae were free in nature. The amount of attenuation of light by the shells of the host has not yet been measured. Presumably photocompensation of the algae within hosts is reached at depths less than 40 m.     

Spatiotemporal dynamics of habitat use by koalas: the checkerboard model

Animal movement patterns and use of space depend upon food and nonfood resources, as well as conspecific and heterospecific interactions, but models of habitat use often neglect to examine multiple factors and rarely include marsupials. We studied habitat use in an Australian population of koalas (Phascolarctos cinereus) over a 6-year period in order to determine how koalas navigate their environment and partition limited patchy food and nonfood resources. Tree selection among koalas appears to be mediated by folar chemistry, but nonfood tree selection exerts a major impact on home range use due to thermoregulatory constraints. Koalas moved on a daily basis, during both day and night, but daytime resting site was not necessarily in the same location as nighttime feeding site. Koalas had substantial home range overlap in the near absence of resource sharing with less than 1% of trees located in areas of overlap used by multiple koalas. We suggest that koala spatiotemporal distribution and habitat use are probably based upon a community structure of individuals, with a checkerboard model best describing overlap in home range area but not in resource use. Nonfood refugia and social networks should be incorporated into models of animal range and habitat use.