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.     

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.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Biomonitoring of heavy metals by pollen in urban environment

Abstract Industrial development and consumption of petroleum products leads to increase air pollution levels especially in urban and industrial areas. Heavy metal components associated with air pollutants have far reaching effects with respect to economic and ecological importance of pollens. The pollens are male reproductive organs of the plant and travel through air from flower to flower for pollination purpose. During this period they are exposed to air pollutants. Present investigation thus pertains to study of effect of air pollutants on pollens especially biosorption and bioaccumulation of heavy metals. The pollens of three commonly occurring plants namely Cassia siamea, Cyperus rotundus, Kigelia pinnata have been studied from the NH-6 of Nagpur city, India. The pollens exposed to polluted air showed the presence of higher concentrations of Ca, Al and Fe as compared to unexposed pollens. Higher concentration of these metals was observed in Cyperus rotundus followed by Cassia siamea and Kigelia pinnata. These results indicate that pollens act as good indicator of air pollution giving results in short time of exposure of 5–10 h. Apart from this, it is also reported that some of these metals play crucial role in the metabolic activity in pollens for example Calcium is necessary for growth of pollen tube and other metabolic activities in pollens. The presence of these metals in pollens may also enhance the allergenicity of the pollens. Similarly accumulation of heavy metals may also deteriorate the quality of pollen for their economical use. The viability of pollen is also affected by these pollutants in sensitive species leading to impairment of their fertility.     

Magnetic mapping of fly-ash pollution and heavy metals from soil samples around a point source in a dry tropical environment

The Singrauli region in the southeastern part of Uttar Pradesh, India is one of the most polluted industrial sites of Asia. It encompasses 11 open cast coalmines and six thermal power stations that generate about 7,500 MW (about 10% of India’s installed generation capacity) electricity. Thermal power plants represent the main source of pollution in this region, emitting six million tonnes of fly-ash per annum. Fly-ash is deposited on soils over a large area surrounding thermal power plants. Fly-ashes have high surface concentrations of several toxic elements (heavy metals) and high atmospheric mobility. Fly ash is produced through high-temperature combustion of fossil fuel rich in ferromagnetic minerals. These contaminants can be identified using rock-magnetic methods. Magnetic susceptibility is directly linked to the concentration of ferromagnetic minerals, primarily high values of magnetite. In this study, magnetic susceptibility of top soil samples collected from surrounding areas of a bituminous-coal-fired power plant were measured to identify areas of high emission levels and to chart the spatial distribution of airborne solid particles. Sites close to the power plant have shown higher values of susceptibility that decreases with increasing distance from the source. A significant correlation between magnetic susceptibility and heavy metal content in soils is found. A comparison of the spatial distribution of magnetic susceptibility with heavy-metal concentrations in soil samples suggests that magnetic measurements can be used as a rapid and inexpensive method for proxy mapping of air borne pollution due to industrial activity.     

A Sensitivity Analysis of an Integrated Modelling Approach to Assess the Risk of Wind-borne Spread of Foot-and-mouth Disease Virus from Infected Premises

The sensitivity of an integrated model to assess the potential for wind-borne spread of foot-and-mouth disease (FMD) to variations in key parameters controlling different physical and biological processes was evaluated. The estimated number of farms at risk is sensitive to the virus strain used and the accompanying effective contact rate. The C Noville strain increased the estimated number of exposed farms ranked as high and medium risk of being infected by a factor of 5, compared to the baseline, based on the O UKG 2001 strain. The inclusion of a model for biological ageing of the virus can also have a significant effect on the concentration patterns arising from transport and dispersion of the virus. Its inclusion has the practical advantage of markedly reducing the time required for the calculations. The estimated number of farms affected by exposure to high and medium virus concentrations is not grossly sensitive to attenuation caused by temperature or relative humidity effects. Changes in susceptibility to infection, as determined by the parameter θ in the exposure-risk model, does not change the configuration of the virus plumes, but it does change the distribution of farms at risk by risk category. These findings suggest that a good understanding of characteristics (excretion rates from infected animals, susceptibility of different species to infection, virus survival, etc.) of the virus strain involved in an FMD outbreak is necessary to provide a reliable assessment of the risk of wind-borne spread. In the event of an incursion of FMD, provision for laboratory studies on the virus will be an essential component of the disease response and should be factored into contingency plans.

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.