Evaluation of X,Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with, X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.     

Validation of atmospheric aerosols parallel sampling in a multifold device

In this work, particulate matter was collected using an active sampling system consisting of a PM₁₀ (<10 μm) inlet coupled to a multifold device containing six channels, connected to a vacuum pump. Each channel was equipped with a filter holder fitted with adequately chosen filters. The system was fixed on a metallic structure, which was placed on the roof of the laboratory building, at the Faculty of Sciences, in Lisbon. Sampling took place under flow-controlled conditions. Aerosols were extracted from the filters with water, in defined conditions, and the water-soluble fraction was quantified by ion chromatography (IC) for the determination of inorganic anions (Cl^?, NO₃ ^? and SO₄ ^2?). Equivalent sampling through the various channels was validated. Validation was based on the metrological compatibility of the content results for the various filters. Ion masses are metrologically equivalent when their absolute difference is smaller than the respective expanded uncertainty. When this condition is verified, the studied multifold device produces equivalent samples.     

PCDD/Fs in the soils in the province of Trento: 10 years of monitoring

Nuclear bud (NB) formation was investigated in blood erythrocytes of 1892 flounder Platichthys flesus, herring Clupea harengus, and eelpout Zoarces viviparus specimens that were collected at 82 sites representing different regions of the Baltic Sea in 2009–2011. This is the first attempt to evaluate the baseline levels of NB and rank the genotoxicity risk for native fish species. NB levels were compared to the previously published micronuclei (MN) data from the same individual fish specimens in order to compare the two methods of genotoxicity assessment and investigate the relationship between MN as the cytogenetic measure of genotoxicity and the DNA damage reflecting NB. In 2009–2011, elevated NB levels in 89.4 % of flounder sampling groups indicated high and extremely high genotoxicity risk levels. Herring and eelpout sampling groups showed elevated levels of NB, 74.6 and 45.7 %, respectively. In general, herring and eelpout NB measure was more sensitive as the genotoxicity biomarker than MN.     

Nest site selection and induced response in a dominant arboreal ant species

It is well known that arboreal ants, both territorially dominant species and plant ants (e.g., species associated with myrmecophytes or plants housing them in hollow structures), protect their host trees from defoliators. Nevertheless, the presence of an induced defense, suggested by the fact that the workers discovering a leaf wound recruit nestmates, is only known for plant ants. Based on the results from a field study, we show here (1) that colonies of Azteca chartifex, a territorially dominant, neotropical arboreal ant species, mostly selected Goupia glabra (Goupiaceae) trees in which to build their principal carton nests and (2) that plant signals induced workers to recruit nestmates, which patrol the leaves, likely providing the plant with a biotic defense. Furthermore, the number of recruited workers was clearly higher on G. glabra, their most frequently selected host tree species, than on other tree species. These results show that contrary to what was previously believed, induced responses are also found in territorially dominant arboreal ants and so are not limited to the specific associations between myrmecophytes and plant ants.     

Runoff and sediment losses from 27 upland catchments in Southeast Asia: Impact of rapid land use changes and conservation practices

Rapid changes in upland farming systems in Southeast Asia generated predominantly by increased population pressure and ‘market forces’ have resulted in widespread land degradation that has been well documented at the plot scale. Yet, the links between agricultural activities in the uplands and downstream off-site effects remain largely unknown because of the difficulties in transferring results from plots to a larger scale. Many authors have thus pointed out the need for long-term catchment studies. The objective of this paper is to summarize the results obtained by the Management of Soil Erosion Consortium (MSEC) over the last 5 years from 27 catchments in five countries (Indonesia, Laos, Philippines, Thailand, and Vietnam). The purpose of the study was to assess the impacts of cultivation practices on annual runoff and erosion rates. Initial surveys in each catchment included topography, soils and land use. Monitoring included climatic, hydrologic and erosion (total sediment yield including bed load and suspended sediment load) data, land use and crop yields, and farmers’ income. In addition, new land management options were introduced through consultations with farmers and evaluated in terms of runoff and erosion. These included tree plantations, fruit trees, improved fallow with legumes, maize intercropped with legumes, planted fodder, native grass strips and agro-ecological practices (direct sowing and mulch-based conservation agriculture). Regressions analyses showed that runoff during the rainy season, and normalized runoff flow coefficient based on erosive rainfall during the rainy season (rainfall with intensity exceeding 25 mm h⁻¹) increase with the percentage of the catchment covered by maize. Both variables decrease with increasing soil depth, standard deviation of catchment slope (that reflects terrain roughness), and the percentages of the catchment covered by fallow (regular and improved), tree plantations and planted fodder. The best predictors of sediment yield were the surface percentages of maize, Job's tears, cassava and footpaths. The main conclusions generated from this study were: (i) soil erosion is predominantly influenced by land use rather than environmental characteristics not only at the plot scale but also at the catchment scale; (ii) slash-and-burn shifting cultivation with sufficiently long rotations (1 year of cultivation, 8 years of fallow) is too often unjustly blamed for degradation; (iii) in its place, continuous cropping of maize and cassava promotes high rates of soil erosion at the catchment scale; (iv) conservation technologies are efficient in reducing runoff and total sediment yield at the catchment scale; (v) the adoption of improved soil management technologies by upland farmers is not a function of the degree of intensification of their farming system and/or of their incomes. The results suggest that if expansion of maize and cassava into already degraded upland systems were to occur due to increased demand for biofuels, there is a risk of higher runoff and sediment generation. A failure to adopt appropriate land use management strategies will result in further rapid resource degradation with negative impacts to downstream communities.     

Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: An analysis of 117 cases with review of the literature

During a 7-year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)—61 cases; (2) fetal malformation—71 cases; and (3) amniotic fluid volume (AFV) abnormality—60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.     

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.