Peri- and paracentric inversions in chromosome 12: Prenatal diagnosis and family study

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1·9 per cent. The clinical implications of these findings are discussed.     

Exposure to airborne organophosphates originating from hydraulic and turbine oils among aviation technicians and loaders

This study describes the potential for occupational exposure to organophosphates (OPs) originating from turbine and hydraulic oils, among ground personnel within the aviation industry. The OPs tri-n-butyl phosphate (TnBP), dibutyl phenyl phosphate (DBPP), triphenyl phosphate (TPP) and tricresyl phosphate (TCP) have been emphasized due to their use in such oils. Oil aerosol/vapor and total volatile organic compounds (tVOCs) in air were also determined. In total, 228 and 182 OPs and oil aerosol/vapor samples from technician and loader work tasks during work on 42 and 21 aircrafts, respectively, were collected in pairs. In general, the measured exposure levels were below the limit of quantification (LOQ) for 84%/98% (oil aerosol) and 82%/90% (TCP) of the samples collected during technician/loader work tasks. The air concentration ranges for all samples related to technician work were 相似文献   

Managing Radioactively Contaminated Land: Implications for Habitat Diversity

Radioactive contamination of agricultural land may necessitate long-term changes in food production systems, through application of selected countermeasures, in order to reduce the accumulation of radionuclides in food. We quantified the impact of selected countermeasures on habitat diversity, using the hypothetical case of two agricultural areas in Finland. The management scenarios studied were conversions from grassland to cereal production and from grassland and crop production to afforestation. The two study sites differed with respect to present agricultural production: one being predominantly cereal production and seminatural grasslands, while the other was dominated by intensive grass and dairy production. Some of the management scenarios are expected to affect landscape structures and habitat diversity. These potential changes were assessed using a spatial pattern analysis program in connection with geographic information systems. The studied landscape changes resulted in a more monotonous landscape structure compared to the present management, by increasing the mean habitat patch size, reducing the total habitat edge length and reducing the overall habitat diversity calculated by the Shannon diversity index. The degree of change was dependent on the present agricultural management practice in the case study sites. Where dairy production was predominant, the landscape structure changes were mostly due to conversion of intensive pastures and grasslands to cereal production. In the area dominated by cereal production and seminatural grasslands, the greatest predicted impacts resulted from afforestation of meadows and pastures. The studied management changes are predicted to reduce biodiversity at the species level as well as diminishing species-rich habitats. This study has predicted prominent side effects in habitat diversity resulting from application of management scenarios. These potential long-term impacts should be considered by decision-makers when planning future strategies in the event of radionuclide deposition.     

How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

Objectives

We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).

Material and Methods

Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.

Results

Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.

Conclusion

Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.     

Prenatal obstruction of the ileum diagnosed by ultrasound

A case of low atresia of the ileum, diagnosed prenatally by real-time ultrasound scanning, is presented. The ultrasound examination showed progressive distension of intestinal loops, with strong peristaltic movements. The stomach was also distended, presenting as a large cystic area in the upper left abdomen. Real-time ultrasound technique is most advantageous in the diagnosis of fetal ileus. Prenatal diagnosis of fetal intestinal obstruction is of great importance, making early and safe treatment of the newborn possible.     

Sand Cap Placement and Cap Thickness Monitoring: A Case Study at a Confined Disposal Facility

Thin sediment capping is a commonly used technique to prevent mobilization of contaminants from sediments into the environment. A 70‐m‐deep subaqueous confined disposal facility (CDF, 350,000 m²) at Malmøykalven, Oslofjord, which received dredged contaminated sediments from Oslo Harbor, was capped with 148,900 m³ of sand in 2009. This research serves as a case study regarding some of the key considerations involved with the cap placement and monitoring of the cap layer. Uncertainty is included in all the cap thickness monitoring methods and a combined use of them provided a better understanding of the cap coverage and structure at the site. An open water disposal model (STFATE) was used to simulate the behavior of the barge‐released cap material. The modeling results were consistent with field observations regarding the material spread, and the results provided insight into the relatively high material losses calculated. Better knowledge obtained of material settling resulted in cap properties and cap monitoring methods that are useful when planning similar operations. ©2015 Wiley Periodicals, Inc.     

In vitro bioassay for reactive toxicity towards proteins implemented for water quality monitoring

Reactive organic chemicals comprise a large number of compounds with a variety of reactive moieties. While most assays for reactive toxicity focus on DNA damage, reactivity towards proteins can also lead to irreparable damage, but reactivity towards proteins is typically not included in any test battery for water quality assessment. Glutathione (GSH) is a small tripeptide whose cysteine moiety can serve as a model for nucleophilic sites on proteins. GSH is also an important indicator of detoxification processes and the redox status of cells and due to its protective role, depletion of GSH ultimately leads to adverse effects. A bioassay based on genetically modified Escherichia coli strains was used to quantify the specific reactivity towards the protein-like biological nucelophile GSH. The significance of GSH for detoxification was assessed by comparing the growth inhibition induced by reference chemicals or water samples in a GSH-deficient strain to its fully functional parent strain. The GSH deficient strain showed the same sensitivity as the GSH proficient strain to non-reactive and DNA damaging chemicals, but was more sensitive to chemicals that attack cysteine in proteins. The difference in effect concentrations for 50% inhibition of growth assessed as biomass increase (EC(50)) between the two strains indicates the relevance of GSH conjugation as a detoxification step as well as direct reactivity with cysteine-containing proteins. Seven reference compounds serving as positive and negative controls were investigated. The E. coli strain that lacks GSH was four times more sensitive towards the positive control Sea-Nine, while negative controls benzo[a]pyrene, 2-aminoanthracene, phenol, t-butylhydroquinone, methyl methane sulfonate and 4-nitroquinoline oxide showed equal effect concentrations in both strains. Water samples collected across an indirect potable reuse scheme representing the complete water cycle from sewage to drinking water in South East Queensland, Australia were used to evaluate the applicability of the E. coli assay for reactive toxicity in water samples. While the EC(50) values of the GSH+ strain showed similar trends as in other biological endpoints over the various treatment chains, the specific response indicative of protein damage was only observed in samples that had undergone chlorination as a disinfection process. High natural organic matter or other matrix components disturbed the bioassay so much that we recommend it for future routine testing only in tertiary treated water or drinking water.