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.     

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.     

Critical loads for Finnish lakes: comparison of three steady-state models

Three simple steady-state water-chemistry models are used to calculate critical loads of sulfur for lakes in Finland. Because of the high concentrations of organic matter in Finnish lakes, the influence of organic anions on the calculation of critical loads has been given special attention. The first two methods are well known ion-balance methods which have been used in many previous lake-acidification studies. The third method, developed for this study, includes the numerical solution of equilibrium equations for organic anions, inorganic carbon species and inorganic monomeric aluminum. The original pH and aluminum concentration of the lakes are estimated with this model, and a method to estimate the original acid neutralizing capacity (ANC) by simulating a Gran-titration is also tested on the lake data. Uncertainty in the predictions is estimated by varying the most critical model parameters.     

Orientation ofRhizophagus grandis (Coleoptera: Rhizophagidae) to oxygenated monoterpenes in a species-specific predator-prey relationship

Summary The predator,Rhizophagus grandis, is linked to its specific prey,Dendroctonus micans, by semiochemical signals regulating oviposition and long range orientation. A mixture of simple oxygenated monoterpenes [(–)—fenchone, (–)—pinocamphone, rac. camphor, terpinene-4-ol, borneol, fenchol and verbenone], identified from the frass ofD. micans has been found to be extremely active in a flight windtunnel as a long—range attractant for the predator. The mixture elicited 84 % of the response to larval frass of the prey. Excluding pinocamphone from the mixture did not influence its activity. Also, changing the absolute configurations of some of the components (fenchol, terpinene-4-ol and borneol) did not influence the predators' response. However, the addition of (–)—-terpineol increased the attractivity of the synthetic blend to almost that of larval frass of the prey. Ecological implications of the identified semiochemicals and their use in pest management are discussed.     

乙醇汽油对国六直喷汽油车排放特性的影响

选择5台国六直喷汽油车采用3种不同组分的E10乙醇汽油和1种不含含氧化合物的国VI汽油,按照国六排放标准开展了WLTC循环测试,研究乙醇和基础油组分对污染物排放的影响规律.结果表明,多数国六直喷汽油车的CO、THC和PM排放有所降低,NO_x排放无明显差异,PN排放微增,所有样车的CO、THC和PM平均排放降低为6%、7%和14%.E10乙醇汽油中的重质芳香烃含量增高时,PN排放明显增加,PN排放与PMI指数呈现较强的正相关关系.     

Utilization of a fumigated sediment by two benthic deposit-feeders:Abra alba (Mollusca: Bivalvia) andEupolymnia nebulosa (Annelida: Polychaeta)

The present study tested the utilization of dead microbial biomass by two benthic deposit-feeders:Abra alba (Wood) (Mollusca: Bivalvia) andEupolymnia nebulosa (Montagu) (Annelida: Polychaeta). Clams were collected in the Canet lagoon during spring 1989. Worms were collected in the Port-Vendres harbour during spring 1989. The¹⁴C-labelled (glutamic acid, 24 h) sediment used during the study was sterilized with 1% chloroform, washed with sterile seawater, and dried (60°C; 48 h). This sterilisation procedure, called fumigation is the least harmful to the sediment (Novitsky 1986). Both clams and worms were incubated in the presence of the fumigated sediment for 5, 10, 20, and 50 h. At the end of each experiment we recorded the radioactivity in four compartments: (1) sediment, (2) dissolved organic matter (DOM), (3) CO₂, and (4) animals. The radioactivity of the sediment was subdivided into five fractions: (i) soluble in 2N HCl, (ii) soluble in hot 5% trichloroacetic acid (TCA), (iii) soluble in 1N NaOH, (iv) soluble in hot 6N HCl, (v) residual (after combustion in a Leco carbon analyser). In the first set of experiments, after 20 h of incubation, 5.4 and 4.7% of the total radioactivity was taken up by clams and worms, respectively. However, a model revealed that this uptake could have been correlated with the release of radiolabelled DOM (33% of total radioactivity during the first 5 h). In order to test this assumption, we used the same protocol with three additional washes of the fumigated sediment. This resulted in a significantly lower uptake by the clams (1.9% of the total radioactivity byt = 50 h), whereas the worms exhibited an uptake similar to that in the initial experiment (5.1% of total radioactivity byt = 50 h). These results underline the importance of considering interactions with DOM when applying radiotracer techniques to the study of benthic food chains. The average ingestion rates of fumigated sediment byA. alba andE. nebulosa were 5.2 10^–2 mg sediment dry wt mg^–1 clam h^–1 and 3.5 10^–2 mg sediment dry wt mg^–1 worm h^–1, respectively, which is comparable to previous data reported for other deposit-feeding bivalves and polychaetes feeding on natural sediment or detritus. The low radioactivity recorded for CO₂ together with the similarity of the changes in the partitioning of the radioactivity within the sediment between control experiments and experiments carried out in the presence of clams or worms suggest low assimilation efficiencies. Therefore, the present study supports the fact that dead microbial biomass does not constitute an important food source for benthic deposit-feeders.     

Reduction and avoidance of lubricant mist demands an integrated assessment approach

A case study to identify major factors for lubricant mist exposure covered 15 metal machining sites. The investigation included milling, turning, drilling and grinding applications. Systematic analysis considered all relevant data concerning the machine tool, the lubricant and the suction plant. The efficiency of the implemented maintenance program at the installed filter systems was checked by concentration measurements immediately before and after service. All performed measurements of lubricant aerosol and vapor loads upstream and downstream of the installed filter systems were carried out according to VDI 2066 and BIA 3110, respectively. The selection criteria for the sites to be investigated, the systematic nature of the data acquisition and the procedure of the analysis are demonstrated in detail by performing comparisons between selected applications using emulsions and those employing straight oil for lubrication. The results of the study identify recirculation of ventilated air as the major source of workplace exposure to airborne lubricant emissions. More than 60% of the demisters investigated emit air at total lubricant loads (aerosols and vapor) above the limit of 20 mg m-3 at any time of operation; which also means immediately after service. A common reason for exceeded aerosol loads in recirculated air is e.g. the fact that the type of filter system applied is often not suitable for the separation problem. Loads of lubricant vapor are usually higher at the processes which use water emulsions as lubricant. In a quarter of the cases the limits were exceeded solely due to high vapor loads even immediately after service. The exposure can be reduced by replacing the lubricant, installation of a vapor separation plant or avoiding air recirculation. Maintenance time of the demisting system and aerosol separation efficiency of state-of-the-art demisting systems can be expanded by implementation of enhanced preliminary filter stages. This study confirms that appropriate service measures lower both aerosol emissions and lubricant vapor concentrations due to the reduction of exposed oil-wetted surfaces. The performed measurements show no significant relationship between loads of airborne lubricants and the type of machining process. Therefore, investigations at a much more detailed level have to be performed. However, the individual assessment of any workplace due to the complex situation remains essential.     

Air pollution exposure monitoring and estimation. Part VI. Ambient exposure of adults in an industrialised region

This paper presents methodology and results of a dynamic individual air pollution exposure model (DINEX) that calculates the hourly exposure for each adult in a panel study. Each of over 260 participants, through the use of a diary, provided information used in the model to calculate his/her personal, individualised exposure. The participants filled out the diary daily, hour by hour, over two, two month periods. The exposure assessment model coupled the diary information and results of an indoor/outdoor measurement program, with the results of dispersion modelling on an hourly basis for an industrial area in Norway. The estimated air pollution concentrations from the dispersion model, based on continuous meteorological measurements, were calibrated with air pollutant concentrations measured continuously.