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R722.11%R596; ... 目的:了解广州地区新生儿遗传代谢病病种的分布特征、发病率及确诊患者的临床转归,优化筛查指标以提高串联质谱法遗传代谢病筛查效能.方法:采用串联质谱法对2015年1月至2020年12月在广州市出生的272117名新生儿进行多种遗传代谢病筛查,以主要筛查指标2次超出阳性切值判断为筛查阳性,召回复查,对疑似母源性疾病连同母亲一并召回,复查仍阳性者进行生化及相关基因测序确诊.回顾性分析筛查结果、确诊病例的临床特点及转归,并进一步优化筛查指标.结果:在272117名新生儿中,初筛阳性1808例,阳性率为0.66％;召回复查1738例,召回率为96.13％;临床诊断时间中位数为15 d,确诊新生儿遗传代谢病79例,包括氨基酸代谢病23例、有机酸代谢病17例及脂肪酸氧化障碍39例.共计21个病种,常见病种为原发性肉碱缺乏症(26.6％)、甲基丙二酸血症(12.7％)及苯丙氨酸羟化酶缺乏症(11.4％),发现假阴性病例4例,均为citrin蛋白缺乏症.272117名新生儿遗传代谢病筛查总体发病率约为1/3444,阳性预测值为4.5％.确诊母亲患者32例,包括原发性肉碱缺乏症30例、异丁酰基辅酶A脱氢酶缺乏症及3-甲基巴豆酰辅酶A羧化酶缺乏症各1例.遗传代谢病筛查总体检出率为1/2451.所有确诊病例随访至今,5例重型患儿(枫糖尿症1例、单纯型甲基丙二酸血症2例、肉碱-酰基肉碱移位酶缺乏症2例)早期死亡,10例有机酸代谢病患儿出现轻度精神运动发育迟缓.优化各病种筛查指标后,初筛阳性数降至903例,阳性预测值提高至9.1％,未遗漏确诊病例.结论:广州地区新生儿脂肪酸氧化障碍发病率相对较高,串联质谱法能有效筛查多种遗传代谢病,优化筛查指标可提高筛查效能. več

对极大螺旋藻的富钙培养技术进行了优化.研究表明,添加0.6g/L的CaCO3,在培养24 h后收获,即在延迟期的末段收获,对极大螺旋藻的生长影响较少,同时可获得有机钙质量分数最高,总钙质量分数相对较高,有机钙占总钙的比例也相对较高的富钙螺旋藻.并探讨了CaCO3和培养时间对极大螺旋藻富钙效果的影响机制. 【英文摘要】 The optimization of cultivation ... techniques for Ca-enriched Spirulina maxima was studied. The result showed that there had little influence on the growth of Ca-enriched Sp. maxima when adding 0. 6 g/L CaCO3 and harvesting in 24 h in the end of the lag phase. It was also found that the Ca - enriched Sp. maxima had highest organic calcium content, higher total calcium content and higher ratio of organic calcium and total calcium. The affecting mechanism of CaCO3 and cultivation time on Ca accumulation of Sp. m... več

对极大螺旋藻的富钙培养技术进行了优化.研究表明,添加0.6g/L的CaCO3,在培养24 h后收获,即在延迟期的末段收获,对极大螺旋藻的生长影响较少,同时可获得有机钙质量分数最高,总钙质量分数相对较高,有机钙占总钙的比例也相对较高的富钙螺旋藻.并探讨了CaCO3和培养时间对极大螺旋藻富钙效果的影响机制. 【英文摘要】 The optimization of cultivation ... techniques for Ca-enriched Spirulina maxima was studied. The result showed that there had little influence on the growth of Ca-enriched Sp. maxima when adding 0. 6 g/L CaCO3 and harvesting in 24 h in the end of the lag phase. It was also found that the Ca - enriched Sp. maxima had highest organic calcium content, higher total calcium content and higher ratio of organic calcium and total calcium. The affecting mechanism of CaCO3 and cultivation time on Ca accumulation of Sp. m... več

通过向螺旋藻培养液中添加固体CaCO3粉末的方法,获得了富钙螺旋藻样品。采用原子吸收光谱法对螺旋藻的细胞壁和生化组分进行钙含量分析,结果表明,细胞壁在钙的富集过程中起了决定性的作用,螺旋藻细胞吸收富集的钙中,约有96%结合在细胞壁上;而糖类物质在有机钙的形成方面起了较为主要的作用,约有88%的有机钙与糖类物质结合,螺旋藻的生物富钙机制可能主要依靠细胞壁的吸附作用以及糖类物质的离子交换和主动运输来实现。对螺旋藻的生化分析显示,螺旋藻富集钙后,糖和蛋白质含量有所下降,而叶绿素a和类胡萝卜素含量则有较大地提高,前者可能与细胞壁的通透性及钙信号的刺激有关,后者则可能与螺旋藻自身的适应性调节作用有关。 【英文摘要】 As a kind of prokaryotic algae, Spirulina not only has very high nutrition value, but also can bio-accumulate many kinds of elements, such as Se, I, Cu, Fe, Mn and Zn. So the researches on its bio-accumulation have drawn much attention. Although the products of selenium-rich Spirulina and iodine-rich Spirulina have been developed, the studies on calcium-rich Spirulina and its bio-accumulation for calcium have not been specially reported so far. The Ca-rich Spirulina was attained by adding solid powder CaCO_...