Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd.     

Perceptions toward stewardship among residents living near U.S. Department of Energy Nuclear Facilities

Although stewardship has been widely defined and used in environmental management and planning, there is a dearth of studies that describe how the lay public perceives this concept. A national sample of residents in 14 states who live near DOE nuclear facilities were interviewed to delineate public understanding and awareness of the stewardship program of the U.S. Department of Energy (DOE). This study discusses the findings of the survey and discusses how institutional trust influences public participation and resident’s choices of potential stewards. Almost 40% of the respondents could not define stewardship; those who did, believed that ‘responsibility,’ ‘management,’ and ‘accountability’ are key elements of stewardship. In addition, about a third of the respondents identified Federal groups and the DOE as potential stewards. Readers should send their comments on this paper to: BhaskarNath@aol.com within 3 months of publication of this issue     

Paleosols of the Solonchanka IX site and climate of the Transural steppe zone in the fourth century AD

Studies on paleosols under an archaeological landmark of a rare type (a complex of kurgans with “whiskers”) dating from the Early Iron Age (the fourth century AD) have been performed in the steppe zone of the Transural Plateau. The size and shape of third-order soil polygons under stony ridges (“whiskers”) between the kurgans have been described in detail. The results have shown that the paleosol under the kurgans erected at the turn of the Late Sarmatian and Hun times (1600 years ago) is characterized by a higher humus content and deeper location of the carbonate horizon, compared to the recent soil. This indicates that an increase in atmospheric humidity took place in the fourth century AD.     

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 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.     

DDT in fish from the Bulgarian region of the Black Sea

In spite of a worldwide reduction in the utilization of organochlorine pesticides (OCPs), they are still a problem for the aquatic environment and human health. The Black Sea is still being polluted with persistent chemicals, including OCPs. Aquatic organisms (sprat, scad, bluefish, shad, belted bonito, goby, and black mussel) with different feeding behaviours were sampled on a seasonal basis from the Bulgarian region of the Black Sea, and the concentrations of 13 OCP residues were determined. Although many of the OCPs were not detected in the samples, in all samples 1,1,1-trichloro-2,2-bis(4-chlorophenyl) ethane (DDT) was present mainly in the form of its metabolites 1,1-dichloro-2,2-bis(4-chlorophenyl) ethane (DDD) and 1,1-dichloro-2,2-bis(4-chlorophenyl) ethylene (DDE). Only about 12% of the total DDT was present as the parent compound pp-DDT, which suggests that it was not being used recently in the region. The total DDT concentrations were generally below 150 μg kg^-1 fresh weight, but higher levels—up to 354 μg kg^-1 fresh weight—were also measured for fish species with a high fat content. Between-species differences were observed, even when the concentrations were presented on a fat-level basis. DDT concentrations did not show any significant changes over the 2-yr sampling period. Fish sampled in the northern areas of the Bulgarian Black Sea coast seemed to contain higher DDT levels than those from the southern areas, suggesting a major (historical) influence of the Danube River. For permanent monitoring purposes, the utility of Black Sea gobies and scad should be considered.