Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil: results of the IAEA–UNESCO SGD project

Results of groundwater and seawater analyses for radioactive (³H, ²²²Rn, ²²³Ra, ²²⁴Ra, ²²⁶Ra, and ²²⁸Ra) and stable (D and ¹⁸O) isotopes are presented together with in situ spatial mapping and time series ²²²Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d⁻¹ to 360 cm d⁻¹; the unit represents cm³/cm²/day), as well as during a few hours (from 0 cm d⁻¹ to 110 cm d⁻¹), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous ²²²Rn measurements is 17 ± 10 cm d⁻¹. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 10³ m³ d⁻¹ per km of the coast. The isotopic composition (δD and δ¹⁸O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of ²²²Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.     

The efficacy of protoporphyrin as a predictive biomarker for lead exposure in canvasback ducks: Effect of sample storage time

We used 363 blood samples collected from wild canvasback dueks (Aythya valisineria) at Catahoula Lake, Louisiana, U.S.A. to evaluate the effect of sample storage time on the efficacy of erythrocytic protoporphyrin as an indicator of lead exposure. The protoporphyrin concentration of each sample was determined by hematofluorometry within 5 min of blood collection and after refrigeration at 4 °C for 24 and 48 h. All samples were analyzed for lead by atomic absorption spectrophotometry. Based on a blood lead concentration of 0.2 ppm wet weight as positive evidence for lead exposure, the protoporphyrin technique resulted in overall error rates of 29%, 20%, and 19% and false negative error rates of 47%, 29% and 25% when hematofluorometric determinations were made on blood at 5 min, 24 h, and 48 h, respectively. False positive error rates were less than 10% for all three measurement times. The accuracy of the 24-h erythrocytic protoporphyrin classification of blood samples as positive or negative for lead exposure was significantly greater than the 5-min classification, but no improvement in accuracy was gained when samples were tested at 48 h. The false negative errors were probably due, at least in part, to the lag time between lead exposure and the increase of blood protoporphyrin concentrations. False negatives resulted in an underestimation of the true number of canvasbacks exposed to lead, indicating that hematofluorometry provides a conservative estimate of lead exposure.The U.S. Government's right to retain a non-exclusive, royalty-free licence in and to any copyright is acknowledgedDeceased     

Economic and Spatial Impacts of an Existing Reserve Network on Future Augmentation

An optimization model for land reservation was developed that explicitly selects parcels in the most compact or contiguous manner possible while meeting habitat requirements and a budget limitation. The model was used to compare the effects of an existing reserve network on future parcel spatial locations and total cost. Using habitat and land value data from Josephine County, Oregon, it was found that a system of existing reserves created by various policies and overseen by different agencies can decrease future reserve compactness and contiguity, and increase total cost. This work suggests that coordinated planning can result in more efficient conservation efforts for less cost.     

Isotopic characterisation of lead deposited 1989-2001 at two upland Scottish locations

The isotopic composition of lead collected with grass samples taken over the period 1989-2001 from plots at two upland locations (Glensaugh in north east and Hartwood in central Scotland) has been determined using thermal ionisation mass spectrometry. Although marked reductions in lead concentrations in grass were observed at Glensaugh in the initial three years, subsequently concentrations have remained relatively constant (1-3 microg g(-1)) in all plots to the present day. The one exception was a roadside plot at Hartwood which showed a large reduction from 1.0 microg g(-1) in 1999 to 0.2 microg g(-1) in 2000 following the abolition of petrol lead in the UK at the beginning of 2000. The total concentrations at this plot were consistently lower than those found at plots away from road traffic but exposed to the prevailing wind direction. The 206Pb/207Pb ratio increased steadily at all the plots throughout the period of the study indicating the reducing influence of petrol lead but the changes were not as great as might be expected with the decrease in the use of leaded petrol. Assuming the collected lead had only two sources, petrol lead and a diffuse background "industrial" lead, the proportion of petrol lead was only in the range 17-69% for roadside samples and 0-39% in other samples. A substantial proportion of deposited lead, therefore, now has its origin other than in petrol. Mixing curves indicate that whereas the lead deposited at Glensaugh could be defined by only two end members, that at Hartwood needs more than two components in the mixture. The results also suggest that although petrol lead has been eliminated, traffic is still a source of lead and another source defined as "traffic lead" should be considered.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

21世纪的保护区:为社会利益而工作

当今保护区面临着前所未有的挑战和机遇，人与资源的关系是保护区工作的关键。保护区随着社会的发展而发展，保护自然需要更加灵活的管理措施，保护区与人的关系更为密切，保护服务和推动保护区毗邻区域的发展正在成为重要目标，这些都将有利于保护区域的生物多样性，未来保护区将为社会利益而工作。     

Adverse outcome in pregnancy following amniotic fluid isolation of Ureaplasma urealyticum

Infections in pregnancy with Ureaplasma urealyticum have been associated with a wide range of adverse outcomes, such as early abortion, stillbirth, prematurity, and neonatal morbidity and mortality. Causality has been difficult to demonstrate secondary to the high prevalence of asymptomatic lower genital tract (LGT) colonization and culture data from inaccessible or potentially contaminated sites. Between 1985 and 1989, 2461 second-trimester genetic amniocenteses were evaluated at the cytogenetics section of the Children's Hospital Medical Center of Akron. All were cultured for the genital mycoplasmas: Mycoplasma hominis and Ureaplasma urealyticum. A total of nine patients were positive, all for Ureaplasma urealyticum, with one patient excluded because of subsequent therapeutic abortion. In addition, complete follow-up data, such as indication for amniocentesis, serum alpha-fetoprotein levels, gestational age at parturition, and out- come of pregnancy, were available on 86 Ureaplasma-negative (U –) patients during an approximate 2-year span within the time-frame of the study. This was in part due to physician response to a questionnaire sent after amniocentesis. Of the eight positive cultures, 100 per cent were associated with an adverse outcome, defined as fetal loss or premature delivery. This was significant compared with the U–group (p<0.001) with a more than eight times greater risk of adverse outcome. Six (75 per cent) resulted in spontaneous miscarriage within 4 weeks of amniocentesis and at less than 21 weeks' gestation. Two (25 per cent) delivered prematurely, with one (12.5 per cent) neonatal death at 24+ weeks. Histological examination of all eight placentae and the seven fetuses revealed a 100 per cent incidence of chorioamnionitis and pneumonia, respectively. In addition, in four of the five cases (80 per cent), cultures were positive for Ureaplasma urealyticum in pure culture from either placenta, fetal lung, or both tissues. The remaining case (20 per cent) was negative for aerobes, anaerobes, and mycoplasmas. The study demonstrates a significant association and supports a causal relationship between isolation of Ureaplasma from mid-trimester amniotic fluid with fetal wastage and premature birth.