DNA-based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample

DNA-based prenatal carrier detection of group A xeroderma pigmentosum (XP-A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP-A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)-amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with HphI, AlwNI, or MseI may detect the three most frequent mutations of the XP-A complementing gene (XPAC) in Japanese XP-A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3′ acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP-A. This is the first case of prenatal carrier detection of the disorder.     

Distribution coefficients (K d) of stable iodine in estuarine and coastal regions, Japan, and their relationship to salinity and organic carbon in sediments

The sediment–water distribution coefficient, K _d, is one of the most important parameters in radionuclide assessment models. In this study, we determined K _ds of stable iodine (I) in estuarine and coastal regions. We studied 16 estuarine and coastal regions of Japan and obtained I data on water and sediments. Data on salinity, pH, dissolved organic carbon and dissolved oxygen in water, and organic carbon (OC) in sediments were also obtained as estuarine variables. Determined K _ds of I in the Sagami River estuary decreased along the salinity gradient (salinity range, 0.1–33.8), indicating that salinity is one of the important factors controlling the K _d values; however, when the K _d values were compared among all the estuaries, the difference between minimum and maximum K _d values varied by about two orders of magnitude in a narrow salinity range of 30.0–34.4. A significant correlation between K _d value and OC content in sediments was observed in all the stations with a salinity of ≥30 except for stations in the Ishikari and Onga River estuaries. The exceptions are probably due to different sources of the sediments, which are explained by the results of relatively low I/OC ratios in sediments in those two estuaries, compared to the other estuaries. Thus, OC in sediments as well as salinity may be responsible for the variation of K _ds of I in the estuarine and coastal regions.     

Analysis for Chemical Characterization of Atmospheric Aerosols Application of X-ray Microprobe System and Double Thin Film Method

The X-ray microprobe system was applied to ultra trace characterization of single Kosa aerosols and non-Kosa aerosols simultaneously collected at Yasaka, Japan and TaeAnn, Korea. We demonstrated remarkable mass increase of heavy metals as well as soil components in individual particles during the Kosa event compared with the non-Kosa period at Yasaka. Backward trajectory analysis suggested that the Kosa samples were in the mixing state of mineral components and anthropogenic heavy elements. Double thin film method was applied to investigate the seasonal change of the mixing states of single sea-salt aerosols associated with chlorine loss due to the heterogeneous reactions between sea-salt particles and acidic gases. It was revealed that the percentages of both chloride-nitrate mixed particles and sulfate-nitrate ones were larger in wintertime than those in summertime and fraction of chloride-nitrate mixed particles increased with an increase of particle size. Comparison between the size-segregated bulk analysis and the single particle analysis demonstrated that remarkable chloride depletion occurred in coarse particles sampled on May in the former analysis, while chloride depletion in coarse particles was not marked in the latter analysis. The discrepancy attributes to the difference of the sampling time between both analyses because significant change of air mass route occurred during the bulk sampling after completion of the single particle sampling.     

Human mortality in Cyprus: the role of temperature and particulate air pollution

Climatic change results in increased occurrence of heat waves, and the thermal stress caused by such phenomena is leading to higher levels of heat-related mortality worldwide. This study is the first to examine the effect of extreme weather on mortality in Cyprus. It investigates the individual effect of meteorological indicators on mortality, as well as the role of particulate air pollution (PM₁₀). A generalized linear model (GLM) with quasi-Poisson regression was implemented. GLM included a temperature function and was adjusted for relative humidity and seasonality. The temperature function was developed under a newly developed framework of distributed lag nonlinear models, which capture nonlinearities and delayed effects of heat simultaneously. GLM was extended to examine the confounding effect of air pollution. All the results on heat effects are presented. High temperatures had a significant effect on mortality with increased mortality rates, independent of humidity and seasonality. Mortality risk increased steeply above a temperature threshold. A direct heat effect was shown, with higher risk on the current and next day of a severe heat event. PM₁₀ was not found to have a confounding effect on the temperature–mortality relationship, since the strength of this relationship remained after the inclusion of PM₁₀ in the model. Differences existed between urban and coastal areas.