First trimester diagnosis of β-thalassaemia in a twin pregnancy

This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α-globin gene provided useful genetic markers for twin differentiation.     

水环境:巴西大西洋流域盆地的人为压力和生态系统变化

发展中国家中正面临经济发展挑战的那些人口密集的流域盆地和海岸带地区可能会在各种问题上受到中度或严重的环境影响.这些由巴西东北部至南部流向大西洋海岸的汇水盆地包括广阔的气候带和多种生态系统.盆地边界以内分布着大西洋雨林、大范围的半干旱热带旱生林(caatinga)、广阔的树木及灌木林地(cerrado)、巴西6670km 海岸线的一大部分及其海洋生态系统.在过去的几十年中,这些自然资源上的人类活动不断发展.海滨化已给沿海生境及生物群落造成了沉重的负担.caatinga和cerrado中的大部分原生植被遭到了破坏,仅存留了7%的大西洋原始雨林.河口、海湾和沿海泻湖也遭到了无法恢复的破坏.土地使用、筑坝和分水等活动已成为造成生境丧失和水生生态系统改变的主要原因.尽管巴西东北部地区的干旱和东南部及南部地区的富庶和工业化之间形成明显反差,但给上述两种地区的生境和生物群落造成的影响是同样严重的.阻止环境恶化的努力没有见到效果.为此建议,应该实行将重点集中在水生生态系统完整性的一些更加综合性的环境政策,而不是把重点单独地集中在自然资源上.     

Screening maternal serum alpha-fetoprotein levels and human parvovirus antibodies

The association between gestational infection with human parvovirus (B19) and fetal loss has increased interest in this virus and demand for diagnostic testing. However, serological assays for B19 are not yet widely available. Maternal serum alpha-fetoprotein (MSAFP) testing is commonly used during the second trimester to screen for various fetal defects. We attempted to determine whether an elevated level of MSAFP would be an appropriate indication for B19-specific tests. Over a 26-month period, MSAFP tests were performed at Michigan State University for 21 392 women. Sera remaining after that testing were stored frozen. Of these, 22 case samples—from women with MSAFP levels greater than 3·0 multiples of the median (MOM) and pregnancies that ended in fetal loss—and 44 matched control samples—from women with MSAFP levels greater than 0·4 and less than 2·2 MOM and live births at term—were tested for B19 antibodies. None of the 66 samples was IgM positive, while 33 (50 per cent) were IgG positive. The presence of IgG was not significantly associated with case or control status (matched odds ratio=0·77, 95 per cent confidence interval 0·28–2·11). These findings are consistent with other studies indicating prior infection in approximately half of adults and suggest that elevated screening MSAFP levels, in the absence of other evidence of B19 infection, should not prompt B19-specific testing.     

Prenatal diagnosis of dyssegmental dwarfism

Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.     

Long-term variation in surface ozone and its precursors in Athens,Greece

INTENTION, GOAL, SCOPE, BACKGROUND: Photochemical pollution is a very complex process involving meteorological, topographic, emission and chemical parameters. The most important chemical mechanisms involved in the atmospheric process have already been identified and studied. However, many unknown parameters still exist because of the large number of participating chemical reactions. OBJECTIVE: The present study investigates the processes involved in the photochemical pollution effect of an urban station located in the greater area of the Athens basin and gives a plausible explanation for the different seasonal ozone development between that station and another rural one. Furthermore, the distribution of the mean monthly surface ozone observed at the urban station during 1987-2001 is examined in order to create a relevant forecasting tool. METHODS: Averaged hourly data of O3 and NOx observations monitored at the above mentioned stations, during 1987-2001, have been used in order to derive the daytime (7:00-15:00) values. Trajectories calculated by using a 2D-trajectory code and meteorological data, during the period 1988-1996, have also been used. RESULTS AND DISCUSSION: At the urban station, the percentage negative trend of NO and NOx data in winter and summer is higher than that in spring and autumn, while the percentage ozone trend is maximum in the summer. On the contrary, the negative surface ozone trend at the rural station exhibits a minimum in summer and a maximum in autumn and winter. The mean seasonal wind-rose for the selected months shows that the northward wind flow dominates during June, the month of the lowest negative ozone trend in the rural station. Finally, the development of the forecasting tool shows that the mean monthly surface ozone data during the period (1987-2001) demonstrates a semi-log distribution. CONCLUSIONS: Air transport effect on the air pollution of the rural station (not blocked by mountains) is deduced as a possible reason for the different seasonal ozone development observed between the rural and the urban station. Finally, the discrepancies between the theoretical probabilities deduced by the model and the empirical ones appear to be very small, and the corresponding correlation coefficient is 0.99. RECOMMENDATION AND OUTLOOK: However, to interpret the aforementioned statistical results about the negative trends in ozone and its precursors, additional parameters can be taken into account. Changes in NOx concentrations, for instance, can result not only from changes in emissions or meteorological conditions. There might also be a contribution through changes in the atmospheric composition. A study of the contribution of changes in atmospheric composition to trends of observed NOx concentrations requires that a series of steps be taken (removal of meteorological influence in the time series, calculation of trends in OH concentrations, etc.).     

Herbicide leaching on a recharge area of the Guarany aquifer in Brazil

The region of Ribeir?o Preto City, located in Southeast of Brazil, S?o Paulo State, is an important sugarcane, soybean, and corn producing area with a high level of pesticides utilization. This region is also an important recharge area for groundwater supply of the Guarany aquifer. Since the past ten years atrazine, simazine, ametryn, tebuthiuron, diuron, 2,4-D, picloram, and hexazinone are the main herbicides used in this area. In order to study a possible leaching of some of these herbicides into the aquifer, surface, and groundwater samples were collected in a watershed during the years of 1996 to 2003, from different locations. To detect and quantify the herbicides a GC-MS (gas chromatograph/mass spectrometry) method was used. The response of the herbicides analyzed was linear over the concentration range of 0.02 to 2.0 microg/L. Analysis of groundwater revealed that the herbicides tebuthiuron, diuron, atrazine, simazine, and ametryn were not present in the samples. In the surface water collected in 1997, ametryn was present in two out of nine locations with concentrations ranging from 0.17 and 0.23 microg/L, which is above the allowable 0.1 microg/L according to the European safety level. The leaching potential of tebuthiuron, diuron, atrazine, simazine, 2,4-D, picloram, and hexazinone has been evaluated using CMLS-94, "Chemical Movement in Layered Soil," as simulation model. No leaching into the depth of the water table at 40 m was found.     

Accumulating pollutants in conifer needles on an Atlantic island - a case study with Pinus canariensis on Tenerife, Canary Islands

Concentrations of potential pollutant elements Na, Cl, and S were investigated in needles of Pinus canariensis grown at 55 field plots in Tenerife. Microelement concentrations (including heavy metals) were measured at a subset of 18 plots. Na and Cl concentrations were high at low elevations (up to 8 mg g(-1) Cl and 5.5 mg g(-1) Na). Na/Cl ratio close to standard seawater indicated sea spray influence up to 1200 m a.s.l. Only at few plots, sulphur concentrations indicated possible pollutant impact. Cluster and correlation analyses identified a related group of V, As, Cr, Fe, Mo, Ni, Cu, Pb, and Al, possibly related to traffic exhaust aggregated with soil particles. Mainly north-eastern, lower elevated plots were exposed to those immissions, but metal concentrations were generally low compared to data from other studies. In conclusion, seawater and soil particles explained most of the element distribution pattern in pine needles in Tenerife, but strong indications for some effect of local sources of air pollutants were detected.     

Fluorescence behaviour of Zn and Ni complexes of humic acids from different sources

Conventional fluorescence spectroscopy in the excitation, emission and synchronous scan modes and three-dimensional fluorescence spectroscopy in the form of an excitation-emission matrix (EEM) of fluorescence intensity as a function of excitation and emission wavelengths have been applied to the study of three humic acids (HAs) extracted from soil (SHA), peat (PHA) and compost (CHA) and their interaction products with Zn(II) and Ni(II) ions. Fluorescence spectra of HAs appear to be related to the nature and origin of the sample. A strong reduction of intensity of all peaks is observed in the spectra of HAs-metal complexes as compared to those of untreated HAs. Ni(II) exhibits greater quenching ability than Zn(II). Fluorescence quenching measured for complexes of HAs at increasing Ni(II) concentrations was linearly correlated with metal ion concentration. The different capacity to interact with metal ions showed by various HAs is attributed to their different molecular complexity.     

PCDD/F-contamination in a hexachlorocyclohexane waste site in Rio de Janeiro,Brazil

In the 1950s, a production plant of hexachlorocyclohexane (HCH) was established in Brazil with the main purpose of producing chemicals for vectors control. This factory was closed down in 1955 and around 300 tons of production residues were left behind in the open air. In 1995, the area was treated with lime to eliminate the HCH contamination. Soil sample gave a PCDD/F concentration of 13 900 ng I-TEQ/kg whereas samples from the neighborhood ranged from 0.19 to 2.08 ng I-TEQ/kg. PCDD/F levels in cow's milk samples varied from 4.1 to 6.5 pg I-TEQ/g of milk fat. High concentration in soil collected from the site suggests that treatment and recovery shall be made. Further dioxin monitoring is needed to better estimate the risk posed to local population through food consumption and soil usage.     

Biogeochemistry of mercury in the Amazonian environment

In this paper, the processes that affect mercury (Hg) cycling in the Amazonian environment were reviewed, criticized and new directions of research are proposed. The discussion of the origin of the mercury contamination, whether natural or anthropogenic is marked by a lack of fundamented arguments from both sides. Undoubtedly mercury inputs from gold mining have locally increased environmental concentrations, but in the whole Amazon, these loads would be insignificant, considering the high concentrations observed by some authors in remote soils. A reasonable process that should explain these elevated concentrations in soil is that B horizons function as a mercury "sponge" that have been accumulating mercury over a geological time scale, releasing it back to cycling during erosion and forest fires. The environmental degradation of the Amazonian forest due to human activities is probably enhancing the release of that mercury to the cycle. Mercury transformations in reduced, anoxic environments--sediments and waters--are also a key problem for the understanding of the environmental methylation. The studies that have been carried out in the Amazonian environment are too restricted and results permit only circumstantial conclusions. Large efforts must be directed to monitoring programs considering time and space variability.