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.     

Sprache und Kontext

Recently, the Max Planck Society founded a new Project group for Psycholinguistics. This article reviews some of the kernel issues of the group's research program. The central concern is with the context dependency of the speaker's linguistic behavior. The process of linguistically formulating depends not only on what the speaker wants to express, but also on what has been said previously (linguistic context), and on the physical and social situation (nonlinguistic context). Special attention is paid to two context-dependent phenomena.     

Tissue distribution of perfluoroalkyl acids and health status in wild Mozambique tilapia (Oreochromis mossambicus) from Loskop Dam, Mpumalanga, South Africa

This study examined concentrations of 15 perfluoroalkyl acids (PFAAs) in tissues from male Mozambique tilapia (Oreochromis mossambicus) collected at Loskop Dam, Mpumalanga, South Africa in 2014 and 2016. Nine of the 15 PFAAs were detected frequently and were included in statistical analysis and included two of the most commonly known PFAAs, perfluorooctanesulfonic acid (PFOS) (median, 41.6 ng/g) and perfluorooctanoic acid (PFOA) (median, 0.0825 ng/g). Of the tissues measured, plasma (2016 and 2014 median, 22.2 ng/g) contained the highest PFAA burden followed by (in descending order): liver (median, 11.6 ng/g), kidney (median, 9.04 ng/g), spleen (median, 5.92 ng/g), adipose (median, 2.54 ng/g), and muscle (median, 1.11 ng/g). Loskop Dam tilapia have been affected by an inflammatory disease of the adipose tissue known as pansteatitis, so this study also aimed to investigate relationships between PFAA tissue concentrations and incidence of pansteatitis or fish health status. Results revealed that healthy tilapia exhibited an overall higher (p-value < 0.05) PFAA burden than pansteatitis-affected tilapia across all tissues. Further analysis showed that organs previously noted in the literature to contain the highest PFAA concentrations, such as kidney, liver, and plasma, were the organs driving the difference in PFAA burden between the two tilapia groups. Care must be taken in the interpretations we draw from not only the results of our study, but also other PFAA measurements made on populations (human and wildlife alike) under differing health status.     

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.