Use of the chemical cleavage of mismatch method for prenatal deficiency diagnosis of alpha-1-antitrypsin

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.     

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis

This paper reports eight cases of non-mosaic, rare, and typically lethal trisomies diagnosed in chorionic villi and not confirmed by amniocentesis. Four cases were 47,XX, + 16; two cases were 47,XX, +2; one was 47,XX, + 12; and one was 47,XY, +7. There have been no known complications in any of these gestations. These eight cases were found in a series of approximately 12 000 samples processed in our laboratory (0.07 per cent). We conclude that (1) rare non-mosaic trisomy not reflecting the fetal condition is an occasional source of diagnostic ambiguity in chorionic villus sampling; and (2) when encountered, a follow-up amniocentesis should be recommended to the patient to confirm or rule out the abnormality. We propose the term ‘confined placental abnormality’ to describe non-mosaic trisomies and other related abnormalities found only in chorionic tissue.     

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age

One hundred and fifty-one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.     

Sustainability assessment of a giant bamboo plantation in Brazil: exploring the influence of labour,time and space

Bamboo presents physical and mechanical characteristics, which turn it an alternative option for product development, replacing native or reforested wood. The sustainability assessment of a Dendrocalamus Giganteus species plantation in Brazil through the emergy methodology evidences a great weight of renewable (30% sej/sej) and human labour contributions (33% sej/sej). These contributions account for the great interface with environment and to the intensive work, respectively. The transformity value of bamboo production is 2.42E + 04 sej/J. The influence human labour has on the total emergy flow and on indicators is evaluated by taking into account different country locations (Brazil, Australia and China). Thus, a different transformity value for labour is assumed for each country. A ranking based on emergy sustainability index (ESI) values shows that bamboo production in China was the first placed, followed by Brazil and Australia (values of 1.18, 0.50 and 0.09, respectively). The insertion of indirect renewability embedded in labour results in the ranking modification, leading to plantation in Brazil in the first place, followed by the Australian and Chinese ones. The relative position of the bamboo systems is visualized in the ternary diagram expressed in terms of emergy. In an attempt to explore the relationship between sustainability and time, a graphic of ESI vs. global productivity is discussed in terms of a prospective evaluation. Indirect support areas of the bamboo production are calculated as a way to evaluate the sustainability-space relationship.     

Dissipation kinetics and residues of triazolopyrimidine herbicides flumetsulam and florasulam in corn ecosystem

The dynamic and residues of florasulam and flumetsulam in corn field ecosystem were investigated using quick, easy, cheap, effective, rugged, and safe (QuEChERS) procedure with high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS). The limits of quantification (LOQs) of the proposed method ranged from 0.005 to 0.01 mg/kg. Mean recoveries and relative standard deviations (RSDs) of the two compounds in all samples at three spiking levels ranged 94–110 % and 2.0–9.2 %, respectively. Florasulam and flumetsulam degradation followed first-order kinetics with half-lives 1.7–2.9 and 3.3–8.7 days in soil and 1.3–1.8 and 0.9–1.7 days in plant, respectively. The residues in all the samples were found to be less than the LOQs at preharvest intervals of 53 and 78 days. The results suggest that the combined use of florasulam and flumetsulam on corn is considered to be safe under the recommended conditions and can be utilized for establishing the maximum residue limit (MRL) of florasulam in corn in China.