Prenatal diagnosis of β-thalassemia in Southern Punjab,Pakistan

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for β-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of β-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing β-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 β-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of β-thalassemia were noticed in the families with affected children and in the general population. Copyright © 2006 John Wiley & Sons, Ltd.     

加热时钝感炸药LX-17的冲击波感度研究

介绍了钝感炸药 L X- 17的冲击波感度试验。在不同的温度下 ,用不同速度和大小的飞片冲击时 ,测得炸药的起爆阈值 ,发现温度越高 ,速度阈值下降 ,临界起爆面积减小。并对试验结果作了简要分析。     

单偶氮染料AY17的光催化降解动力学及机制

为了研究水体环境中单偶氮染料酸性黄17(AY17)有效地去除方式及其可能的降解途径、转化和归趋等,实验首先探索了AY17在不同深度氧化体系中降解的可行性,研究发现其去除效率的大小按照UV/H_2O_2UV/Na_2S_2O_8≈UV/FeSO_4·7H_2OUV/KHSO_5UV/TiO_2排列.然后选取UV/TiO_2体系,研究了催化剂用量,反应温度,底物浓度以及溶液初始p H值等因素对其光催化降解动力学的影响,结果表明AY17的光催化降解遵循假一级动力学,其降解速率常数为0.011 2 min~(-1);当催化剂TiO_2用量为3 g·L~(-1)时其降解效果最好;高温有利于AY17的光催化降解,而随着底物浓度和溶液初始p H值的升高,其降解速率常数显著下降.最后利用GC/MS对AY17光催化降解中间产物进行了初步鉴定,研究发现在·OH等活性氧物种的作用下偶氮键的断裂、羟基自由基对芳香环上基团的取代以及吡唑环的裂解是其主要降解途径.     

雌二醇在土壤/沉积物中的吸附特征及猪粪DOM对吸附的影响

天然类固醇雌激素如17β-雌二醇(E2)在极低质量浓度下(ng.L-1)即可干扰水生生物的生殖功能.为准确预测E2向水体迁移,通过摇床实验研究了E2在中国北方3种不同土壤/沉积物表面的吸附特征,同时探讨了猪粪及其堆肥可溶态有机质(DOM)对E2吸附的影响.结果发现,E2在土壤/沉积物表面吸附符合Freundlich等温吸附方程(R2>0.76),E2在河流沉积物、潮土、黑土皆表现为非线性,其中黑土吸附的非线性最强(n=0.74);吸附系数Kf介于26.2～57.5,并与有机质含量呈显著正相关(P<0.05).猪粪及其堆肥DOM显著抑制E2在土壤/沉积物表面的吸附,其中堆肥DOM的影响尤为显著.研究认为,有机质是土壤/沉积物中吸附E2的主要组分,共存猪粪DOM在较低浓度下可提高E2迁移性,增加E2向地表和地下水的迁移风险.     

Forecasting iron ore import and consumption of China using grey model optimized by particle swarm optimization algorithm

The iron and steel industry plays a fundamental role in a country's national economy, especially in developing countries. China is the largest iron ore consumption market in the world. However, because of limited domestic iron ore resources, a large proportion of iron ore is imported from other countries. Faced with the conflict between the iron ore supply shortage and the growing demand, it is necessary for the government to predict imports and total consumption. This paper develops a high-precision hybrid model based on grey prediction and rolling mechanism optimized by particle swarm optimization algorithm. We use the China Statistical Yearbook (1996–2011) as our database to test the efficiency and accuracy of the proposed method. According to the experimental results, the proposed new method clearly can improve the prediction accuracy of the original grey model. Future projections have also been done for iron ore imports and total consumption in China in the next five years.     

甲醛暴露时间延长加剧小鼠哮喘模型肺氧化损伤并促进IL-17表达

为了探究不同暴露时间甲醛对小鼠哮喘模型肺氧化应激及IL-17表达的影响,用浓度为3.0 mg·m~(-3)的甲醛气体吸入染毒,同时将48只雄性Balb/c小鼠随机分为6组:(1)对照组(生理盐水组);(2)ovalbumin(OVA)致敏组;(3)0.5 h甲醛+OVA组;(4)1h甲醛+OVA组;(5)1.5 h甲醛+OVA组;(6)2 h甲醛+OVA组,以不同时间长度进行甲醛暴露,连续35 d。OVA致敏组、0.5 h甲醛+OVA组、1 h甲醛+OVA组、1.5 h甲醛+OVA组、2 h甲醛+OVA组均在第11、18及25天腹腔注射OVA致敏液(5 mg OVA+175 mg Al(OH)_3+30 mL生理盐水),第29~35天(共计1周)进行1%OVA雾化(30 min·d~(-1)),每日1次,诱发哮喘。第36天进行以下操作:取肺组织测定肺系数并制作肺匀浆,检测肺组织中活性氧自由基(ROS)、丙二醛(MDA)和还原型谷胱甘肽(GSH)的含量,并采用ELISA法检测肺组织中IL-17的水平。同时,采用HE染色法观察小鼠肺部气道的病理学变化。结果显示,在浓度为3.0 mg·m~(-3)的甲醛气体吸入染毒条件下,与对照组相比,1.5 h甲醛+OVA染毒组、2 h甲醛+OVA染毒组ROS、MDA、IL-17含量上升,具有统计学意义(P0.01)。同时,随着暴露时间长度的增加,小鼠肺部气道出现明显病理学变化。综上所述,每天2 h甲醛+OVA染毒能对小鼠肺造成损伤并恶化OVA对小鼠肺的损伤,产生炎症反应,并通过氧化应激反应介导。     

Microbial transformation of synthetic estrogen 17α-ethinylestradiol

Natural estrogens such as estrone, 17β-estradiol, estriol, and the particularly recalcitrant synthetic estrogen 17α-ethinylestradiol used as oral contraceptive, accumulate in the environment and may give rise to health problems. The processes participating in their removal from soil, wastewater, water-sediments, groundwater-aquifer material, and wastewater or sewage treatment plant effluents may involve the action of bacterial and microbial consortia, and in some cases fungi and algae. This review discusses the different efficiencies of bacterial degradation of 17α-ethinylestradiol under aerobic and anaerobic conditions, the role of sulfate-, nitrate-, and iron-reducing conditions in anaerobic degradation, and the role of sorption. The participation of autotrophic ammonia oxidizing bacteria and heterotrophic bacteria in cometabolic degradation of estrogens, the estrogen-degrading action of ligninolytic fungi and their extracellular enzymes (lignin peroxidase, manganese-dependent peroxidase, versatile peroxidase, laccase), and of algae are discussed in detail.     

含17β-雌二醇饮用水氯化消毒前后水质生物毒性的变化

选择饮用水中经常暴露的17β-雌二醇（E2）为研究对象,考察了含有E2饮用水在氯化消毒前后的水质生物毒性变化规律。小球藻急性毒性实验结果表明,不同浓度E2（0、2、4、8、16 mg·L-1）单独暴露条件下,其对小球藻的生长抑制率呈现出较为明显的剂量-效应关系,即随着E2暴露浓度的升高,对小球藻的生长抑制率有所增加;在较高氯投量下（E2与氯摩尔浓度比值为1：2和1：5）,氯化消毒后水样对小球藻的生长抑制率均高于氯化消毒前,而在低氯投量下（E2与氯摩尔浓度比值为4：1和1：1）,水样对小球藻的生长抑制率均低于氯化消毒前,表明低氯投量可降低E2产生的水质急性毒性风险。小球藻酶活性实验结果表明,无论是SOD活力、CAT活力,还是MDA含量,并没有出现因受E2暴露和氯氧化胁迫而产生显著上升的趋势,表明E2单独暴露或E2经氯化消毒后并不会对小球藻的酶活性产生显著影响。     

Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques

Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.     

β-环糊精强化微生物修复石油烃污染土壤的试验研究

石油烃污染物的生物可利用性是土壤微生物修复的限制因素,为了提高污染物的生物可利用性和降解效率,引入环境友好的β-环糊精作为污染物增溶剂,并与表面活性剂十二烷基硫酸钠(SDS)作对比。结果表明,当β-环糊精的投加浓度为其在水中饱和溶解度的90%、SDS的投加浓度为其临界胶束浓度时,β-环糊精和SDS对土壤中石油烃污染物的增溶效果达到最大,分别为84.42%和89.63%。虽然两者都具有相近的增溶效果,但SDS具有一定的生物毒性,抑制了微生物的生长及其对石油烃污染物的降解,而β-环糊精可以促进微生物生长并有效提高微生物对污染物的去除效率。投加β-环糊精的微生物修复组在15 d内的降解率达到19.5%,比单独微生物修复组的降解率提高了70%以上。