Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.     

Stable and radioiodine concentrations in cow milk: dependence on iodine intake

For testing the potential use of stable iodine as a countermeasure to reduce radioiodine transfer to milk, concentrations of stable iodine and radioiodine in the milk of dairy cows fed different amounts of stable iodine were measured. The results indicated that, compared to a normal average stable iodine intake of about 20 mg d(-1) for cows, low iodine dietary intake (<1.5 mg d(-1)) resulted in a reduced transfer of radioiodine to milk by 25%, varying stable iodine intakes in the range of 10-500 mg d(-1) did have no significant effect; at stable iodine intake rates above 1000 mg I d(-1), a reduction by a factor of approximately two was achieved. The high dietary iodine intakes--being about 100 times the normal iodine supply--required to reduce the radioiodine transfer significantly, will result in stable iodine concentrations in milk in excess of advised or legal limits for human consumption. Nevertheless, the provision of stable iodine via the milk pathway might be considered for emergency situations when stable iodine is used as a preventative measure for dose reduction to humans.     

The transfer of 137Cs and 90Sr from feed to rabbits

Radiological assessment of the impact of nuclear weapons testing on the local population in the Semipalatinsk Test Site (STS) requires comprehensive site-specific information on radionuclide behaviour in the environment. However, information on radionuclide behaviour in the conditions of the STS is rather sparse and, in particular, there are no data in the literature on parameters of radionuclide transfer from feed to rabbit products which have been identified as contributors to internal dose to the inhabitants. The transfer of (137)Cs and (90)Sr to rabbit meat was studied under laboratory conditions in a controlled experiment with 32 locally bred rabbits maintained in the Kazakh Agricultural Research Institute. The equilibrium transfer coefficients for (137)Cs and (90)Sr from feed to rabbit meat were estimated to be 0.4 d kg(-1) and 0.15 d kg(-1), respectively. The biological half-lives were estimated to be 0.1 d for (137)Cs and 0.14 d for (90)Sr. Whereas for (137)Cs the distribution in the body is relatively homogeneous, there are large differences between the organs and tissues for (90)Sr for which, as expected, the highest concentrations were found in bone.     

A near real-time system for continuously monitoring airborne subtilisin-type enzymes in the industrial atmosphere

We describe the development and validation of a portable system comprising an air sampler coupled to an automated flow injection analysis device. The system is able to monitor airborne concentrations of subtilisin-type enzymes in the workplace atmosphere on a continuous basis. Sampling is in two stages: using a sampling head that is designed to mimic human respiration at approx. 1 m s(-1) at a sampling rate of 600 l min(-1). In the second stage, the captured particles are deposited by impaction from the air stream onto the inner surface of a cyclone that is continuously washed with a jet of buffer solution. Deposited particles are then washed into a reservoir from which samples are taken every 5-6 min and injected automatically into a continuous flow injection analysis system. Proteolytic enzyme in the sample passes through a bioreactor maintained at about 40 degrees C. This contains a cellulose solid phase matrix on which is covalently immobilised Texas Red-labelled gelatin as substrate. The passing enzyme partially digests the substrate releasing fluorophore that is detected down stream in a flow cell coupled to a fluorimeter. The system is calibrated using enzyme standards and the intensity of the resulting peaks from the ex-air samples is converted to airborne concentrations using a mathematical model programmed into a PC. The system has a limit of detection of 4.8 ng m(-3) and a dynamic range of 5-60 ng m(-3). The within assay precision (RSD) is 6.3-9.6% over this range. The within batch precision is 20.3% at 20 ng m(-3) and the corresponding between batch value is 19.5%. The system has been run for periods up to 8 h in the laboratory and for up to 4 h at a factory site and the values obtained compared with time-averaged values obtained from a conventional Galley sampler and in-house analysis when reasonable agreement of the results was observed. The stability of the system over 21 days of continuous use with standards injected periodically was studied. Linearity was observed for all the standard plots throughout. At the end of 21 days, after a total exposure equivalent to 2395 ng ml(-1) of Savinase, the signal due to the 5.0 ng ml(-1) standard was still easily detectable.     

Long-term associations of morbidity with air pollution: A catalog and synthesis

I searched the National Institutes of Health MEDLINE database through January 2017 for long-term studies of morbidity and air pollution and cataloged them with respect to cardiovascular, respiratory, cancer, diabetes, hospitalization, neurological, and pregnancy-birth endpoints. The catalog is presented as an online appendix. Associations with PM_2.5 (particulate matter with an aerodynamic diameter <2.5 μm), PM₁₀ (PM with an aerodynamic diameter <10 μm), and nitrogen dioxide (NO₂) were evaluated most frequently among the 417 ambient air quality studies identified. Associations with total suspended particles (TSP), carbon, ozone, sulfur, vehicular traffic, radon, and indoor air quality were also reported. I evaluated each study in terms of pollutant significance (yes, no), duration of exposure, and publication date. I found statistically significant pollutant relationships (P < 0.05) in 224 studies; 220 studies indicated adverse effects. Among 795 individual pollutant effect estimates, 396 are statistically significant. Pollutant associations with cardiovascular indicators, lung function, respiratory symptoms, and low birth weight are more likely to be significant than with disease incidence, heart attacks, diabetes, or neurological endpoints. Elemental carbon (EC), traffic, and PM_2.5 are most likely to be significant for cardiovascular outcomes; TSP, EC, and ozone (O₃) for respiratory outcomes; NO₂ for neurological outcomes; and PM₁₀ for birth/pregnancy outcomes. Durations of exposure range from 60 days to 35 yr, but I found no consistent relationships with the likelihood of statistical significance. Respiratory studies began ca. 1975; studies of diabetes, cardiovascular, and neurological effects increased after about 2005. I found 72 studies of occupational air pollution exposures; 40 reported statistically significant adverse health effects, especially for respiratory conditions. I conclude that the aggregate of these studies supports the existence of nonlethal physiological effects of various pollutants, more so for non–life-threatening endpoints and for noncriteria pollutants (TSP, EC, PM_2.5 metals). However, most studies were cross-sectional analyses over limited time spans with no consideration of lag or disease latency. Further longitudinal studies are thus needed to investigate the progress of disease incidence in association with air pollution exposure.

Implications: Relationships of air pollution with excess mortality are better known than with long-term antecedent morbidity. I cataloged 489 studies of cardiovascular, respiratory, cancer, and neurological effects, diabetes, and birth outcomes with respect to 12 air pollutants. About half of the studies reported statistically significant relationships, more frequently with noncriteria than with criteria pollutants. Indoor and cumulative exposures, coarse or ultrafine particles, and organic carbon were seldom considered. Significant relationships were more likely with less-severe endpoints such as blood pressure, lung function, or respiratory symptoms than with incidence of cancer, chronic obstructive pulmonary disease (COPD), heart failure, or diabetes. Most long-term studies are based on spatial relationships; longitudinal studies are needed to link the progression of pollution-related morbidity to mortality, especially for the cardiovascular system.