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.     

聚丙烯纤维组合填料在CAST水处理工艺中的运用

西南某市小型污水处理厂目前日处理能力为2万t.d-1,进水主要为生活污水(70%)和抗生素制药废水(30%)。由于各种原因,处理效果一直很差,尤其是CODcr、NH4-N两项指标很难达到国家排放标准要求。后经过一系列实验研究分析,发现向反应池中投加聚丙烯纤维(组合填料)对处理水质起到了很好的改善作用。     

轴心受压钢筋混凝土柱等效火灾荷载的计算

迄今为止，国内外有关计算构件耐火极限的方法，是钢筋混凝土构件与防火研究的主要内容。而在结构设计中，由于直接考虑的是荷载作用，为此提出了一个新概念——等效火灾荷载，将火灾对结构的影响直接考虑成荷载作用。在确定了混凝土柱的截面温度场后，利用一种简化计算方法计算出钢筋混凝土柱的等效火灾荷载，进而计算出钢筋混凝土柱的耐火极限。在火灾中，作为结构最基本的构件柱可能受到单面或多面的火作用，这里仅介绍轴心受压钢筋混凝土柱等效火灾荷载的计算。     

"燃烧假人"测试方法中燃烧系统设计研究

“燃烧假人”测试方法中火场环境生成是对服装整体阻燃性能进行定量评估的前提，而燃烧系统设计是实现具有可重复性、一致性、均匀性等特点火场环境的关键。本文对燃烧系统的需求进行了分析，对其构成及设计思路进行了研究，提出了一种解决方案。     

抗生素废水的铁屑微电解预处理研究

研究了采用铁屑微电解法预处理抗生素废水.在进水COD质量浓度为6.2 g/L时,试验结果表明,经微电解处理后的废水,COD和色度的去除率分别达到68.3%和79.3%,BOD5/COD从0.306提高到0.56,废水的可生化性得到显著提高.通过正交试验考察pH、反应时间及铁屑用量对处理效果的影响,并对各因素作了单因素影响试验,确定了最佳工艺条件.     

南京粉质粘土与粉砂互层土及粉细砂的抗液化性能试验研究

南京粉质粘土与粉砂互层土为粉质粘土与粉细砂交互沉积,呈现“千层饼”状外貌;南京粉细砂是一种以片状颗粒成分为主的粉细砂,与通常的圆形颗粒石英砂有一定区别,片状颗粒成分使得南京粉细砂具有各向异性的性质。通过南京粉质粘土与粉砂互层土及粉细砂对比液化试验,对其试验成果进行分析,从中发现:无论是偏压固结还是均压团结,当固结压力α_2=100 kPa时,南京粉质粘土与粉砂互层土的液化剪应力比比南京粉细砂的大得多;而当固结压力α_2=200kPa时,两种土的液化剪应力比相当接近。因而,对于重大工程应该慎重考虑它们的液化可能性。     

耐热粉末铝合金筒体热旋成形试验

介绍了喷射沉积耐热铝合金管坯经挤压变形 ,变薄旋压筒体的研制过程 ;重点论述了热旋成形筒体的工艺路线。试验探讨了耐热铝合金的旋压温度为 35 0～ 45 0℃ ,道次变薄率约为2 0 % ,累计变薄率约 5 0 % ,需中间退火 ,退火温度宜取 35 0℃。热旋结果认为 ,喷射沉积耐热粉末铝合金铸坯直接热旋成形困难 ,需经挤压比大于 4的变形致密 ,有助于热旋成形。耐热粉末铝合金挤压坯加热变薄旋压 ,应采用小压下量多道次的变形过程 ,逐渐细化晶粒组织 ,才能旋出综合性能良好的筒形件。     

甲基汞神经毒性检测和评价效应指标--即刻早期基因研究

论述了甲基汞神经毒性研究现状，通过分析即刻早期基因（IEG）在甲基汞神经毒性机制中的作用，得出即刻早期基因能作为甲基汞神经毒性检测和评价的效应指标，同时也简要介绍即刻早期基因的研究方法，并指出利用基因芯片技术能够被步筛选出甲基汞对大鼠脑基因表达影响的相关基因。     

Fecal source tracking by antibiotic resistance analysis on a watershed exhibiting low resistance

The ongoing development of microbial source tracking has made it possible to identify contamination sources with varying accuracy, depending on the method used. The purpose of this study was to test the efficiency of the antibiotic resistance analysis (ARA) method under low resistance by tracking the fecal sources at Turkey Creek, Oklahoma exhibiting this condition. The resistance patterns of 772 water-isolates, tested with nine antibiotics, were analyzed by discriminant analysis (DA) utilizing a five-source library containing 2250 isolates. The library passed various representativeness tests; however, two of the pulled-sample tests suggested insufficient sampling. The resubstitution test of the library individual sources showed significant isolate misclassification with an average rate of correct classification (ARCC) of 58%. These misclassifications were explained by low antibiotic resistance (Wilcoxon test P < 0.0001). Seasonal DA of stream E. coli isolates for the pooled sources human/livestock/deer indicated that in fall, the human source dominated (P < 0.0001) at a rate of 56%, and that human and livestock respective contributions in winter (35 and 39%), spring (43 and 40%), and summer (37 and 35%) were similar. Deer scored lower (17–28%) than human and livestock at every season. The DA was revised using results from a misclassification analysis to provide a perspective of the effect caused by low antibiotic resistance and a more realistic determination of the fecal source rates at Turkey Creek. The revision increased livestock rates by 13–14% (0.04 ≤ P ≤ 0.06), and decreased human and deer by 6–7%. Negative misclassification into livestock was significant (0.04 ≤ P ≤ 0.06). Low antibiotic resistance showed the greatest effect in this category.     

土壤水分对沙棘成活率及抗逆生理特性的影响

为提高沙棘在滩涂区，半干旱区造林的成活率，对不同土壤水分下沙棘的生理学特性进行了分析。结果表明：（1）在不同土壤水分处理下，随土壤含水量降低及处理时间的延长，沙棘叶片脯氨酸（Pro)含量升高，POD活性增强，可溶性糖含量升高；水淹情况下，沙棘叶片Pro含量明显上升，POD活性增强，可溶性糖含量升高。（2）土壤含水量在15%-30%之间，沙棘苗木成活率最高（100%），生长最好；35%和40%处理下，沙棘苗木成活率较高（66.7%)，生长良好；5%，10%处理水平和水淹情况下，沙棘苗木成活率低（33.3%)，生长不良，（3）不同处理下，随土壤含水量的降低，沙棘叶片的相对电导度增大，沙棘受伤害的程度加剧，且淹水对沙棘的伤害最重。