Fetal cardiac anomalies and genetic syndromes

Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Tolerance of calluna vulgaris and peatland plant communities to sulphuric acid deposition

Critical loads offer a unique way of evaluating impacts of acid deposition by quantifying environmental sensitivity. The critical loads of acidity for UK peat soils have been based upon an arbitrary reduction in pH of 0.2 units. This chemical shift needs to be better related to adverse effects on sensitive biological receptors. It is known that effective precipitation pH equates closely to soil solution pH, and the latter is directly linkable to biotic effects of pH change. On continuation of a long-term experiment assessing impacts of simulated acid rain on peat microcosms in a realistic outdoor environment, Calluna vulgaris continued to flourish at acid deposition loads well above the existing critical load. Calluna plants were harvested and analysed, and acid deposition treatments to the microcosms continued to allow natural vegetation to regenerate. A diverse mixture of moorland plants and bryophytes established at acidity treatments well above the existing critical load, and only a very high acid load resulted in no natural regeneration. A critical effective rain pH value of 3.6 is suggested as a basis for setting critical loads. At this pH, Calluna grows well, and a healthy diverse vegetation community re-establishes when harvested. It is suggested that the peat critical load should be set at the acid load that, at any specific site, would result in a mean effective precipitation pH of 3.6.     

Assessment of metal enrichments in tsunamigenic sediments of Pichavaram mangroves, southeast coast of India

The 26 December 2004-Tsunami has deposited sediments in the Pichavaram mangrove ecosystem, east coast of India. Ten surface and three core sediment samples were collected within thirty days of the event. High concentrations of Cd, Cu, Cr, Pb, and Ni were observed in the tsunamigenic sediments. With respect to Fe, Zn, and Mn, there was little variation as compared to pre-tsunami values. The geo-accumulation index was calculated in order to assess the contamination of heavy metals in the sediments. The sediments were extremely contaminated with respect to Cd and they showed moderate to strong contamination with respect to Cr, Pb and Ni. The study highlighted the future risk of enhanced metal pollution in near future in this mangrove ecosystem.     

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     

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.     

Destruction of Aspergillus versicolor,Penicillium chrysogenum,Stachybotrys chartarum,and Cladosporium cladosporioides spores using chemical oxidation treatment process

The survival of aqueous suspensions of Penicillium chrysogenum, Stachybotrys chartarum, Aspergillus versicolor, and Cladosporium cladosporioides spores was evaluated using various combinations of hydrogen peroxide and Fe²⁺ as catalyst. Spore concentrations of 10⁶–10⁷ colony forming units per milliliter (CFU/mL) were suspended in water and treated with initial hydrogen peroxide and iron concentrations ranging from 0.05 to 10 percent and 100 to 200 ppm, respectively. After four hours of reaction time, samples were plated on agar plates, and the viable fraction of spores was determined by the number of colonies formed. Hydrogen peroxide concentrations above 50,000 ppm resulted in greater than 6‐log₁₀ reduction of viable spores for both catalyzed and noncatalyzed reactions. Iron had a strong catalytic effect when added to solutions with hydrogen peroxide concentration above 5,000 ppm and resulted in two to three orders of magnitude greater reduction compared to hydrogen peroxide alone. Additional samples taken after 24 hours of reaction time showed that the effect of the addition of 100 and 200 ppm of Fe²⁺ catalyst was mostly kinetic, and noncatalyzed hydrogen peroxide had sporicidal effects similar to catalyzed hydrogen peroxide. This study identified initial reagent concentrations of hydrogen peroxide and Fe²⁺ that accomplish a 6‐log₁₀ reduction of viable mold spores within reaction times of 4 and 24 hours. © 2007 Wiley Periodicals, Inc.     

Biophysical and socioeconomic characterization of a water-stressed area and simulating agri-production estimates and land use planning under normal and extreme climatic events: a case study

This study aims in linking the biophysical and socioeconomic data base layers with the technical coefficients or simulation models for agri-production estimates and land use planning under normal and extreme climatic events, and exploring the resource and inputs management options in village Shikohpur, Gurgaon district located in the northwest part of India. The socioeconomic profile of Shikohpur is highly skewed with mostly small and marginal farmers. Though the areas under wheat in Shikohpur are increasing, the productivity is declining or remaining stagnant over the years. Most of the area during kharif season (June-September) remains fallow. Pearl millet based cropping systems (pearl millet-mustard and pearl millet-wheat) are predominant. Soils are mostly loamy sand to sandy loam with average of 70-80% sand content. Organic C content in soil is less than 0.3%, due to high prevailing temperature with little rainfall and also intensive agriculture followed in this region. Though the annual average seasonal rainfall in Gurgaon did not have much variation over the years, occurrence of extreme climate events has increased in the last two decades. The crop intensity is low and the water table is declining. Water and nitrogen production functions were developed for the important crops of the region, for their subsequent use in scheduling of the inputs. InfoCrop, WTGROWS and technical coefficients were used for crop planning and resource management under climate change and its variability, extreme events, limited resource availability and crop intensification. These will help in disseminating necessary agro-advisories to the farmers so that they will be able to manipulate the inputs and agronomic management practices for sustained agricultural production under normal as well as extreme climatic conditions.