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.     

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.     

A Comparison of the Size Distribution of Particulates Emitted from Air,Mechanical, and Steam Atomized Oil Fired Burners

Particulate size distributions were obtained in the effluent gases from three steam generating boilers of a power station employing mechanical, steam, and air systems for heavy fuel atomization. Samples were obtained with an eight-stage cascade impactor. The air atomized burner produced the lowest particulate loading, the greatest percentage of particulates by weight in the submicron range, and particulates with the lowest combustible content.