Uncommon chromosomal mosaicism in chorionic villi

Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues.     

An approach to preimplantation diagnosis of β-thalassaemia

Using the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β-globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β-thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β-thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false-positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.     

Clinical and pathological factors in spontaneous abortion following chorionic villus sampling

Twenty-nine cases of spontaneous abortion following first-trimester chorionic villus sampling (CVS) were reviewed out of a series of 722 patients. Of the 29 cases, there were only four abnormal CVS results. Pathological examination was performed in 79 per cent of cases, and this did not identify any characteristic pathological feature associated with spontaneous abortion after CVS. There was no obvious difference in the pathological features following the transabdominal (TA) or the transcervical (TC) methods. The majority of miscarriages occurred within 4 weeks of the procedure, but 38 per cent of cases aborted between 7 and 14 weeks after CVS. The TC method was used in 22 patients; the TA in 6; and both methods in 1 patient. The TA method was associated with a significantly lower fetal loss rate than the TC method (TA 2 per cent, TC 9 per cent, p < 0.001).     

Women's opinions on the offer and use of maternal serum screening

We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether. A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well-considered individual choice can be achieved.     

Rainwater toxicity and contamination study from São Paulo Metropolitan Region, Brazil

Wet deposition is an important process that removes pollutants from the atmosphere and transfers them to waters and soil. The goal of this study was to assess the biological effects of the atmospheric contamination of rainwater in the metropolitan area of São Paulo (MASP) using Daphnia similis, Ceriodaphnia dubia, and Vibrio fischeri. Experimental assays were carried out according to standard toxicity methodology. Twenty-three rainwater samples were collected from October 2007 to December 2008, at the Nuclear Research Institute (IPEN), in MASP. Major ions were determined by ionic chromatography, which showed NH₄ ⁺ and NO₃ ^? as prevalent ions. Ecotoxicological results confirmed toxic potential of rainwater, as all samples were toxic to D. similis and C. dubia. The V. fischeri luminescence reduction confirmed those negative effects of rainwater and percentage inhibition of relative luminescence ranged from 0.2 to 0.9 for 16 samples. Worse conditions were observed during the rainy season, suggesting convective rains are more effective in transferring contaminants and toxicity from atmosphere to surface.     

Seaweeds as bioindicators of heavy metals off a hot spot area on the Egyptian Mediterranean Coast during 2008–2010

Concentrations of Cu, Zn, Cd, Pb, Ni, Co, Fe, Mn, and Hg were measured successively in water, sediments, and six macroalgal species belonging to three algal classes during 3 years (2008–2010) from Abu Qir Bay, Alexandria, Egypt: Chlorophyceae (Enteromorpha compressa, Ulva fasciata), Phaeophyceae (Padina boryana), and Rhodophyceae (Jania rubens, Hypnea musciformis, Pterocladia capillacea). The study aimed to assess the bioaccumulation potential of the seaweeds, as well as to evaluate the extent of heavy metal contamination in the selected study site. Metals were analyzed using atomic absorption spectrophotometry coupled with MH-10 hydride system. The obtained data showed that the highest mean concentrations of Cu, Zn, Fe, and Mn were recorded in E. compressa; Cd, Ni, and Hg exhibited their highest mean concentrations in P. boryana, while Pb and Co were found in J. rubens. Abundance of the heavy metals in the algal species was as follow: Fe?>?Mn?>?Zn?>?Pb?>?Ni?>?Co?>?Cu?>?Cd?>?Hg. E. compressa showed the maximum metal pollution index (MPI) which was 11.55. Bioconcentration factor (BCF) for the metals in algae was relatively high with a maximum value for Mn. The Tomlinson pollution load index (PLI) values for the recorded algal species were low, which ranged between 1.00 in P. boryana and 2.72 in E. compressa. Enrichment factors for sediments were low fluctuating between 0.43 for Hg to 2.33 for Mn. Accordingly, the green alga E. compressa, brown alga P. boryana, and red alga J. rubens can be nominated as bioindicators. Based on MPI and PLI indices, Abu Qir Bay in the present study is considered as low-contaminated area.     

Evaluation of limits for effective flame acceleration in hydrogen mixtures

Results of experiments and data analysis on turbulent flame propagation in obstructed channels are presented. The data cover a wide range of mixtures: H₂/air, H₂/air/steam (from lean to rich) at normal and elevated initial temperatures (from 298 to 650 K) and pressures (from 1 to 3 bar); and stoichiometric H₂/O₂ mixtures diluted with N₂, Ar, He and CO₂ at normal initial conditions. The dataset chosen also covers a wide range of scales exceeding two orders of magnitude. It is shown that basic flame parameters, such as mixture expansion ratio σ, Zeldovich number β and Lewis number Le, can be used to estimate a priori a potential for effective flame acceleration for a given mixture. Critical conditions for effective flame acceleration are suggested in the form of correlations of critical expansion ratio σ^* versus dimensionless effective activation energy. On this basis, limits for effective flame acceleration for hydrogen combustibles can be estimated. Uncertainties in determination of critical σ^* values are discussed.     

Safety climate factors, group differences and safety behaviour in road construction

This study determines the factor structure of safety climate within a road construction organization using a modified version of the safety climate questionnaire (SCQ). It also investigates the relationship between safety climate and safety performance. The SCQ was administered to 192 employees from two districts and in two job categories — construction and maintenance. A behavioural observation measure of safety performance was also developed. Factor analysis derived six factors, which were similar to those obtained in an earlier study using the SCQ. Differences in the safety climate of job sub-groups were found on two of the factors. No differences between the two districts were found. No relationship was found between safety climate and the safety performance measure. While identical safety climate factors cannot apply to all organizations, some general safety climate factors may emerge. Discussion focuses upon the measurement of safety climate.