Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of cases possible by means of mutational analysis of nuclear-encoded genes of complex I. We report on our experience to date with prenatal diagnosis in pregnancies at risk for complex I deficiency. We measured complex I activity in native CV and/or cultured CV in 23 pregnancies in 15 families. In accordance with the results of the investigations in CV, 15 children were born clinically unaffected. Two prenatally diagnosed unaffected fetuses and two prenatally diagnosed affected fetuses were lost prematurely with spontaneous or provoked abortions, respectively. Two affected children were born (prenatally found to be affected). In two pregnancies a discrepancy between native and cultured cells was found. We conclude that prenatal diagnosis for complex I deficiency can be reliably performed. Pitfalls were encountered in using cultured CV as a result of maternal cell contamination (MCC). Future research on pathogenic nuclear mutations underlying complex I deficiency will extend the possibilities for prenatal diagnosis at the molecular level. Copyright © 2001 John Wiley & Sons, Ltd.     

多级A/O工艺强化城市生活污水再生过程的污染物去除效果研究

北京市某城市污水厂在传统的A ²/O工艺基础上特别增设多级A/O(MAO)工艺强化脱氮除磷效果。以该污水厂各工艺单元出水为研究对象,通过对水质常规理化指标、紫外吸收光谱及其相关参数分析,并结合多元数据统计学手段,分析该工艺对城市污水中污染物的去除效果,特别是溶解性有机物(DOM)的去除。经MAO工艺强化后COD_Cr、DOC、TN、TP和N$H^{+}_{4}$-N的去除率分别为95.14%、89.70%、94.53%、97.26%和99.74%,达到GB 18918—2002《城镇污水处理厂污染物排放标准》一级A标准;增设MAO工艺后,提高了对DOM的去除率,DOM分子量和团聚化程度显著提高,化合物的稳定性增强。对污水再生过程处理单元水质化学指标与紫外光谱参数的相关性分析表明,芳香环上取代基类型以脂肪链为主时对脱氮除磷促进作用更加明显。