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.     

Land degradation assessment by geo-spatially modeling different soil erodibility equations in a semi-arid catchment

Land degradation by soil erosion is one of the most serious problems and environmental issues in many ecosystems of arid and semi-arid regions. Especially, the disturbed areas have greater soil detachability and transportability capacity. Evaluation of land degradation in terms of soil erodibility, by using geostatistical modeling, is vital to protect and reclaim susceptible areas. Soil erodibility, described as the ability of soils to resist erosion, can be measured either directly under natural or simulated rainfall conditions, or indirectly estimated by empirical regression models. This study compares three empirical equations used to determine the soil erodibility factor of revised universal soil loss equation prediction technology based on their geospatial performances in the semi-arid catchment of the Saraykoy II Irrigation Dam located in Cankiri, Turkey. A total of 311 geo-referenced soil samples were collected with irregular intervals from the top soil layer (0-10?cm). Geostatistical analysis was performed with the point values of each equation to determine its spatial pattern. Results showed that equations that used soil organic matter in combination with the soil particle size better agreed with the variations in land use and topography of the catchment than the one using only the particle size distribution. It is recommended that the equations which dynamically integrate soil intrinsic properties with land use, topography, and its influences on the local microclimates, could be successfully used to geospatially determine sites highly susceptible to water erosion, and therefore, to select the agricultural and bio-engineering control measures needed.     

Solid phase extraction of gold(III) on Amberlite XAD-2000 prior to its flame atomic absorption spectrometric determination

A solid phase extraction method for the determination of gold(III) at trace levels by flame atomic absorption spectrometer (FAAS) was developed. The method was based on retention of gold as chloro complexes through the Amberlite XAD-2000. The effect of some analytical parameters including hydrochloric acid concentration, sample volume, sample and eluent flow rates, eluent volume, eluent concentration and interfering ions on the recovery of gold(III) was investigated. The retention of gold(III) from 1.5 mol l⁻¹ HCl solution and the recovery of gold with 0.07 mol l⁻¹ NH₃ solution were quantitative (≥95%). The relative standard deviation (RSD) was calculated as 3.2% (n = 10). The detection limit for gold was 2 μg l⁻¹. The accuracy was checked with the determination of gold spiked an artificial seawater and a pure copper samples.     

Using volcanic tuff wastes instead of feldspar in ceramic tile production

Journal of Material Cycles and Waste Management - The present study investigated the potential of utilizing the cutting dust waste generated in the sizing process of volcanic tuff stones as an...     

Inv dup (15): Prenatal diagnosis and postnatal follow-up

A de novo inv dup (15) was diagnosed at amniocentesis. No physical abnormalities were detected after birth. The boy developed severe mental and motor retardation, which became obvious at 16 months of age.     

Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy

Direct chromosome preparations were performed on placental villi obtained by ultrasoundguided needle aspiration between 18 and 37 weeks of pregnancy in 53 patients. The sampling yielded a sufficient amount of tissue with a maximum of two, and in most cases one, insertions. Placental biopsy is easily performed in cases of severe oligohydrammnios, where fetal blood sampling is usually more difficult. Direct karyotyping of placental villi is faster than chromosome analysis from fetal blood or application of the pipette method on amniotic fluid cells, and currently represents the most rapid approach to prenatal diagnosis of chromosomal abnormalities from the first to the third trimester of pregnancy.     

Assessing the effects of land use changes on soil sensitivity to erosion in a highland ecosystem of semi-arid Turkey

There has been increasing concern in highlands of semiarid Turkey that conversion of these systems results in excessive soil erosion, ecosystem degradation, and loss of sustainable resources. An increasing rate of land use/cover changes especially in semiarid mountainous areas has resulted in important effects on physical and ecological processes, causing many regions to undergo accelerated environmental degradation in terms of soil erosion, mass movement and reservoir sedimentation. This paper, therefore, explores the impact of land use changes on land degradation in a linkage to the soil erodibility, RUSLE-K, in Cankiri–Indagi Mountain Pass, Turkey. The characterization of soil erodibility in this ecosystem is important from the standpoint of conserving fragile ecosystems and planning management practices. Five adjacent land uses (cropland, grassland, woodland, plantation, and recreational land) were selected for this research. Analysis of variance showed that soil properties and RUSLE-K statistically changed with land use changes and soils of the recreational land and cropland were more sensitive to water erosion than those of the woodland, grassland, and plantation. This was mainly due to the significant decreases in soil organic matter (SOM) and hydraulic conductivity (HC) in those lands. Additionally, soil samples randomly collected from the depths of 0–10 cm (D ₁) and 10–20 cm (D ₂) with irregular intervals in an area of 1,200 by 4,200 m sufficiently characterized not only the spatial distribution of soil organic matter (SOM), hydraulic conductivity (HC), clay (C), silt (Si), sand (S) and silt plus very fine sand (Si + VFS) but also the spatial distribution of RUSLE-K as an algebraically estimate of these parameters together with field assessment of soil structure to assess the dynamic relationships between soil properties and land use types. In this study, in order to perform the spatial analyses, the mean sampling intervals were 43, 50, 64, 78, 85 m for woodland, plantation, grassland, recreation, and cropland with the sample numbers of 56, 79, 72, 13, and 69, respectively, resulting in an average interval of 64 m for whole study area. Although nugget effect and nugget effect–sill ratio gave an idea about the sampling design adequacy, the better results are undoubtedly likely by both equi-probable spatial sampling and random sampling representative of all land uses.     

Flood risk,climate change and settlement development: a micro-scale assessment of Austrian municipalities

This paper analyses the influence of climate change and land development on future flood risk for selected Austrian flood-prone municipalities. As part of an anticipatory micro-scale risk assessment we simulated four different inundation scenarios for current and future 100- and 300-year floods (which included a climate change allowance), developed scenarios of future settlement growth in floodplains and evaluated changes in flood damage potentials and flood risk until the year 2030. Findings show that both climate change and settlement development significantly increase future levels of flood risk. However, the respective impacts vary strongly across the different cases. The analysis indicates that local conditions, such as the topography of the floodplain, the spatial allocation of vulnerable land uses or the type of land development (e.g. residential, commercial or industrial) in the floodplain are the key determinants of the respective effects of climate change and land development on future levels of flood risk. The case study analysis highlights the general need for a more comprehensive consideration of the local determinants of flood risk in order to increase the effectiveness of an adaptive management of flood risk dynamics.     

Adaptation and validation of QuEChERS method for the analysis of trifluralin in wind-eroded soil

This study was carried out to develop and validate a reliable analytical procedure for trifluralin analysis in wind-eroded sediments. Soil sediments trapped in BEST sediment traps were subjected to QuEChERS extraction method, incorporating a simple simultaneous cleanup step, followed by trifluralin analysis with GC-ECD. Results revealed that QuEChERS method offered a potential alternative technique for pesticide extraction from soil samples. The validity of analytical method was performed by the method-performance criteria such as, recovery, LOD, LOQ repeatability, precision, and all found to be within the required limits. It was also observed in this study that herbicide concentrations in the wind-eroded sediment did not vary with the time and trap height. Trifluralin concentrations of surface soil after four erosion events were higher (626.05 μg/kg) than wind-eroded soil (450.08 μg/kg).