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.     

Analysis of pollution status of River Illo,Ota, Nigeria

An assessment of the pollution status of River Illo, located within River Owo catchments area in Ota, Ogun State, Nigeria, was carried out. The River’s response to deoxygenation due to BOD loading from an abattoir and its dissolved oxygen (DO) level was predicted using the modified Streeter-Phelps model. The average concentrations of measured parameters at the sampling stations include: 2.24 mg/l of DO, 312.85 mg/l of BOD, 782.86 mg/l of chemical oxygen demand, and 620.76 g/l of total solids. The DO model for River Illo showed a positive correlation between measured and calculated DO, while the dissolved oxygen curve gave a double spoon shape of two major segments with distinct zones of degradation, decomposition, and recovery. The self-purification factor (f) for both segments ranged between 0.8 and 1.1 depicting River Illo as a slow moving or sluggish river. The above results revealed slow reaeration of the water body while full recovery from pollution was difficult. The treatment of River Illo before usage is very essential to ensure public health safety of users from waterborne diseases.     

Sorption of the veterinary antimicrobials sulfadimethoxine and ormetoprim in soil

Currently, limited research on the fate of antimicrobials in the environment exists, once they are discharged in human and animal wastes. Sorption of two antimicrobials, sulfadimethoxine (SDM) and ormetoprim (OMP), was investigated in two soils and sand using a series of batch experiments. Because OMP and SDM are often administered in combination, their sorption was also investigated in combination as co-solutes. The rate of SDM and OMP sorption was rapid over the first few hours of the experiments, which then slowed considerably after 16 to 68 h. OMP sorption was enhanced at high concentrations when in combination with SDM, with linear sorption coefficients ranging from 1.3 to 58.3 L.kg(-1) in the single solute experiments and 4.96 to 89.7 L.kg(-1) in the co-solute experiments. Sorption of OMP as a single solute seems to provide a better fit with the Freundlich equation, which became more linear (n approached 1) when SDM was present. Overall, SDM sorbed less than OMP in the two soils and sand. SDM linear sorption coefficients ranged from 0.4 to 25.8 L.kg(-1) as a single solute and 2.5 to 22.1 L.kg(-1) as a co-solute. Sorption of SDM becomes more nonlinear (n < 1) when SDM is present in combination with OMP. Overall, sorption of both antimicrobials increased in the selected soils and sand as the organic matter, clay content, and cation exchange capacity increased. These experiments indicate relatively low sorption of SDM and OMP in natural soils, making them a potential threat to surface and ground water.     

The effect of nitrogen deficiency,methionine and inhibitors of methionine metabolism on the DMSP contents of Tetraselmis subcordiformis (Stein)

The unicellular alga Tetraselmis (Platymonas) subcordiformis (Prasinophyceae) displayed a two-phase increase in DMSP (dimethylsulfoniopropionate) contents in response to nitrogen deficiency. In the first phase, DMSP pools increased by 75% within 24 h. The second increase in DMSP was observed after 14 d and was accompanied by cyst formation. Methionine metabolism was involved in DMSP accumulation. A 2.6-fold increase of the DMSP pool could be induced by supplementing a complete ASP (artifical seawater Provasoli) medium with 100 M L-methionine. Inhibition of methionine utilization by T. subcordiformis caused by the addition of S-adenosylhomocystein, a competitive inhibitor of S-adenosylmethionine-dependent transmethylases, resulted in a 24% increase of DMSP contents after 7 h. DMSP accumulation after hyperosmotic shock was significantly delayed when methionine liberation from proteins was inhibited by a set of protease inhibitors. A model for the mechanism of DMSP accumulation is presented on the basis of these data and additional information from the literature. It is proposed that methionine availability in T. subcordiformis determines the rate of DMSP synthesis.     

Sources, distribution, and risk assessment of organochlorine pesticides in Nairobi City, Kenya

The distribution and sources of organochlorine pesticides (OCPs) in air and surface waters were monitored in Nairobi City using triolein-filled semipermeable membrane devices (SPMDs). The SPMDs were extracted by dialysis using n-hexane, followed by cleanup by adsorption chromatography on silica gel cartridges. Sample analysis was done by GC-ECD and confirmed by GC–MS. Separation of means was achieved by analysis of variance, followed by pair-wise comparison using the t-test (p≤ 0.05). The total OCPs ranged between 0.018 – 1.277 ng/m³ in the air and <LOD – 1391.000 ng/m³ in surface waters. Based on the results, the means of Industrial Area, Dandora and Kibera were not significantly different (p≤ 0.05), but were higher (p≤ 0.05) than those of City square and Ngong’ Forest. The results revealed non-significant (p≤ 0.05) contribution of long-range transport to OCP pollution in Nairobi City. This indicated possible presence of point sources of environmental OCPs in the city. The water-air fugacity ratios indicated that volatilization and deposition played an important role in the spatial distribution of OCPs in Nairobi City. This indicated that contaminated surface waters could be major sources of human exposure to OCPs, through volatilization. The incremental lifetime cancer risks (ILCR) determined from inhalation of atmospheric OCPs were 2.3745  ×  10^?13 – 1.6845  ×  10^?11 (adult) and 5.5404  ×  10^?13 – 3.9306  ×  10^?11 (child) in the order: Dandora > Kibera > Industrial Area > City Square > Ngong’ Forest. However, these were lower than the USEPA acceptable risks, 10^?6 – 10^?4. This study concluded that atmospheric OCPs did not pose significant cancer risks to the residents.     

Application of cryofocusing hydride generation and atomic fluorescence detection for dissolved mercury species determination in natural water samples

The concentration levels of mercury (Hg) species in natural water samples are usually low. Consequently, accurate analysis with low detection limits is still a major problem. In this work, a method was applied for the simultaneous direct determination of dissolved mercury species in water samples by on-line hydride generation (HG), cryogenic trapping (CT), gas chromatography (GC) and detection by atomic fluorescence spectrometry (AFS). The suitability of the method for real samples with different organic matter and chloride contents was evaluated by recovery experiments in synthetic and natural spiked water samples. The HG method was compared with other current available methods for mercury analysis with respect to the different fraction of mercury analysed, i.e. 'reactive', 'reducible' or total. HG derivatization and SnCl2 reduction (with and without previous oxidation with BrCl) were applied to synthetic and natural (spiked and non-spiked) water samples. The influence of chloride and dissolved organic matter concentrations was studied. The results suggest that the HG procedure is suitable for the simultaneous determination of Hg2+ and MeHg+ in surface water samples. Inorganic mercury analysed by HG (i.e. reducible) is close to the total inorganic mercury.     

High frequency monitoring of the coastal marine environment using the MAREL buoy

The MAREL Iroise data buoy provides physico-chemical measurements acquired in surface marine water in continuous and autonomous mode. The water is pumped 1.5 m from below the surface through a sampling pipe and flows through the measuring cell located in the floating structure. Technological innovations implemented inside the measuring cell atop the buoy allow a continuous cleaning of the sensor, while injection of chloride ions into the circuit prevents biological fouling. Specific sensors for temperature, salinity, oxygen and fluorescence investigated in this paper have been evaluated to guarantee measurement precision over a 3 month period. A bi-directional link under Internet TCP-IP protocols is used for data, alarms and remote-control transmissions with the land-based data centre. Herein, we present a 29 month record for 4 parameters measured using a MAREL buoy moored in a coastal environment (Iroise Sea, Brest, France). The accuracy of the data provided by the buoy is assessed by comparison with measurements of sea water weekly sampled at the same site as part of SOMLIT (Service d'Observation du Milieu LIToral), the French network for monitoring of the coastal environment. Some particular events (impact of intensive fresh water discharges, dynamics of a fast phytoplankton bloom) are also presented, demonstrating the worth of monitoring a highly variable environment with a high frequency continuous reliable system.     

Bioindicator organisms: Heavy metal pollution evaluation in the Ionian Sea (Mediterranean Sea—Italy)

Trace metal concentrations of mercury, cadmium, lead and chromium in Patella caerulea, and Mullus barbatus were investigated to provide information on pollution of Ionian Sea, since these metals have the highest toxic potential. High chromium levels (0.47–0.97 g g^–1 ww) were registered in limpet samples collected from two station near the Gulf of Taranto, while elevated concentration of mercury (0.31–1.50 g g^–1 ww) were found in mullet specimens from Sicily. The metal concentrations recorded at the clean stations may be considered as useful background levels to which to refer for comparison within the Mediterranean area. On the contrary, the high levels of chromium and mercury found respectively in the areas near the Gulf of Taranto and at Capo Passero being of concern in terms of environmental health need frequent monitoring.