Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007–December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.     

节能搅拌反应器的应用

针对发酵有机酸在中和、酸解过程中出现混合不均匀、能耗大、蛄垢严重的问题,通过设备使用、工艺过程检测和分析,找出了存在问题的原因.对反应器、搅拌装置重新设计,提高反应器内壁及搅拌器的加工精度,经使用验证,提高了产品质量和生产效率,降低能耗和装置结垢现象,提高了公司经济效益.     

运动员补糖、支链氨基酸和乳清蛋白的临床应用观察

目的：观察补充糖饮料、支链氨基酸和乳清蛋白等能量物质对阶段性大运动量训练维持或提高运动员身体机能和疲劳恢复的影响。方法：根据冬训阶段性训练计划安排,对10名散打运动员在30d的体能训练阶段,按营养补充方案进行能量补充,观察能量补充对机体无氧能力的输出总功、最大功率、疲劳指数,有氧能力的拉桨时间、功率、桨频,生化指标血乳酸（LA）尿素氮（BUN）、血糖（GL）、肌酸激酶（CK）的影响,另选10名队友作空白组,进行自身前后对照和空白对照。结果：观察组经过阶段性能量补充前后运动员的输出总功、最大功率、疲劳指数和桨频均显著提高（P〈0．01）,与空白组相比也有明显提高（P〈0．05）,训练课后血糖水平也明显提高（P〈0．05）,补充支链氨基酸和乳清蛋白后血BUN的恢复与空白组比有极显著好转（P〈0．001）。结论：训练期间补充糖、支链氨基酸和乳清蛋白等能量物质,能明显改善运动员的有氧运动能力和无氧运动能力,明显延缓运动性疲劳的发生,加速运动性疲劳恢复的作用。     

浙江省优秀男子摔跤运动员控体前后脂肪酸的组成变化研究

以浙江省优秀男子摔跤运动员为研究对象,通过研究控体前后不同运动员血清脂肪酸的代谢情况,尤其是n-3多不饱和脂肪酸的变化情况,为运动员减控体重方案的制定与具体实施提供依据。结果显示,控体前后,运动员血清脂肪酸的组成和含量均发生了显著性变化,不饱和脂肪酸量总量都在升高,总的n-3多不饱和脂肪酸含量也都有所升高,而且不同运动员由于自身体质状况的不同,对控体前后产生的反应也存在一定的差异。     

枇杷叶中三萜酸的提取、分离和检测研究进展

枇杷叶是一种传统的中药植物资源,富含熊果酸、齐墩果酸、科罗索酸等多种三萜酸类化合物,具有较高的应用价值。本文对枇杷叶中三萜酸的种类、提取、分离、检测和生物活性进行了综述。     

不同动物肝细胞染色质组分的比较分析

采用BONNER法提取鸡和大白鼠肝细胞染色质的组成成分进行比较分析,结果表明:两者紫外吸收光谱非常相似,在220 nm和260 nm呈现两个吸收峰。鸡肝染色质组成成分DNA∶RNA∶组蛋白∶非组蛋白的质量液度的比值为:1∶0.096∶0.963∶0.53;大白鼠肝细胞染色质组成成分DNA∶RNA∶组蛋白∶非组蛋白的质量液度的比值为:1∶0.077∶1.007∶0.55。     

Effect of methyl mercury induced free radical stress on nucleic acids and protein: Implications on cognitive and motor functions

Mercury pollution and acute neurotoxicity of mercury is well known. The recent reports suggest the adverse effect of low dose mercury, though the available literature is still silent on its mechanism. This study was therefore undertaken to probe the effect of low dose methyl mercury induced heavy metal toxicity on free radical stress and its impact on behaviour of male albino rats. Male albino rats were exposed to 1 mg/kg body wt of methylmercury chloride for seven days, on day 8 they were tested for motor and memory functions. They were sacrificed later for biochemical estimations for rate of lipid peroxidation, nucleic acids, proteins in cerebrum, cerebellum and brain stem. There was an increase in the rate of lipid peroxidation showing methyl mercury induced free radical stress. The motor and memory functions demonstrated a clear decline, besides there was a lowering in the levels of nucleic acids and proteins as compared to controls. The results are important in view of recent reports that methyl mercury induced free radical stress results in early ageing and may serve as an initiating factor more specifically for neurodegenerative disorders like Alzeihemer's disease and dementias. The current findings support the notion that incorporating dietary antioxidants like curcumin, ascorbic acid and α-tocopherol in routine diet from early age may help combat the risk of developing such disorders in ensuing years.     

梗阻性黄疸肝肾细胞内胆汁酸活度的变化

本实验运用离子选择性微电极技术直接测定了鼠胆道梗阻前后肝、肾细胞内的胆汁酸活度。结果表明，胆道梗阻２周，肝、肾细胞内胆汁酸活度明显升高，其中肝细胞内达５．４６ｍｍｏｌ／Ｌ，肾细胞内达０．３７ｍｍｏｌ／Ｌ，已达到或接近体外膜损害浓度，提示胆汁酸可能是梗阻性黄疸引起肝、肾细胞超微结构损害的因素之一。     

应用生物技术选育黑优粘系列新品种的研究

本文报道了糯稻黑糯14号(♀)和粘稻特优粘9号(♂)的杂交,并应用生物技术和通过多种现代测试仪器对后代植株的检测,已成功地选育出“黑优粘”系列新品种。这些新品种具有营养价值高和产量也较高的优点。     

生物芯片的应用

生物芯片的应用是将探针固定于芯片上 ,利用核酸链间的分子杂交 ,鉴定DNA和蛋白质的一种新技术。尽管生物芯片仅仅出现几年 ,但它带来的信息却蕴藏着生物学中结构与功能的内在联系 ,其应用具有十分巨大的潜力 ,它已在功能基因组研究、新药研究、物种改良和医学诊断、军事科学等方面提供或正在提供极有价值的信息 ,已成为科学家们手中的有力武器