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381.
Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal storage diseases due to impaired function of a sialic acid transporter, sialin, at the lysosomal membrane. Several mutations of the sialin gene, SLC17A5, are known, leading either to the severe neonatal/infantile disease or to the milder, adult-type developmental disorder, Salla disease. Free sialic acid accumulation in lysosomes causes increased tissue concentration and consequently elevated urinary excretion. Prenatal diagnosis of SASD is possible either by determination of free sialic acid concentration or by mutation analysis of the SLC17A5 gene in fetal specimen, in chorionic villus biopsy particularly. Both techniques have been successfully applied in several cases, sialic acid assay more often in ISSD cases but mutation analysis preferentially in SD. Sialic acid assay of amniotic fluid supernatant or cultured amniotic fluid cells may give erroneous results and should not be used for prenatal diagnosis of these disorders. The present comments are mainly based on our experience of prenatal diagnosis of SD in Finnish families. A founder mutation in SLC17A5 gene, 115C-> T, represents 95% of the disease alleles in the Finnish SD patients, which provides a unique possibility to apply mutation analysis. Therefore, molecular studies have successfully been used in 17 families since the identification of the gene and the characterization of the SD mutations. Earlier, eight prenatal studies were performed by measuring the free sialic acid concentration in chorionic villus samples. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Adaptive host choice and avoidance of superparasitism in the spawning decisions of bitterling (Rhodeus sericeus) 总被引:5,自引:0,他引:5
C. Smith John D. Reynolds William J. Sutherland Pavel Jurajda 《Behavioral ecology and sociobiology》2000,48(1):29-35
Choice of a site for oviposition can have fitness consequences. We investigated the consequences of female oviposition decisions
for offspring survival using the bitterling, Rhodeus sericeus, a freshwater fish that spawns inside living unionid mussels. A field survey of nine bitterling populations in the Czech
Republic revealed a significantly lower rate of release of juvenile bitterling from Anodonta cygnea compared to three other mussel species. A field experiment demonstrated that female bitterling show highly significant preferences
for spawning in A. anatina, Unio pictorum, and U. tumidus. Within a species, female bitterling avoided mussels containing high numbers of bitterling embryos. Mortality rates of bitterling
embryos in mussels were strongly density dependent and the strength of density dependence varied significantly among mussel
species. Female preferences for mussels matched survival rates of embryos within mussels and females distributed their eggs
among mussels such that embryo mortalities conformed to the predictions of an ideal free distribution model. Thus, female
oviposition choice is adaptive and minimizes individual embryo mortality.
Received: 6 October 1999 / Received in revised form: 7 January 2000 / Accepted: 13 March 2000 相似文献
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机器的自由源速度的测量 总被引:3,自引:1,他引:2
对于弹性安装的机器来说,其自由源速度的测量十分重要,可作为结构声源“强度”来看待。在此对一个排气风扇4个支撑点的6个自由度(3个平动和3个转动)的自由源速度进行了测量,并对测量结果进行了分析和比较。 相似文献
388.
生态工程在湖垸湿地农业持续发展中的应用 总被引:9,自引:3,他引:6
湖垸是平原湖区农业生产的基本湿地单元。本文通过对江汉平原四湖地区的一个典型湖垸──新兴垸湿地农业开发的调查与分析,指出必须在湖垸微地貌基础上建设拦蓄和疏导并举的农田水利工程设施,因地制宜布局农业生产模式,发展沼气促进湖垸湿地生态系统物质能量的多级循环利用,保护与合理利用湿地资源,同时肯定并强调生态工程的应用是湖垸湿地农业持续发展的必由之路 相似文献
389.
Kypros H. Nicolaides 《黑龙江环境通报》2011,31(1):7-15
Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks. Copyright © 2011 John Wiley & Sons, Ltd. 相似文献
390.
Luminescence in the oxidation of isoproterenol by the superoxide anion radical in dimethyl sulfoxide
Chemiluminescence appearing during oxidation of isoproterenol using chemical system involving superoxide anion radical has been studied. Chemiluminescence and fluorescence spectra were measured. The chemiluminescence spectrum was measured with cut‐off filters and revealed bands with maximum at 440, 480, 550, 640 and 700 nm. The bands at 480, 640 and 700 nm were similar to those observed for singlet oxygen. The fluorescence spectrum exhibited maximum at 560 nm. The inhibitory effect of several biologically important compounds known as O2 ?‐ HO? and 1O2 scavengers on the light emission was studied. The obtained results indicate that oxidation of isoproterenol by O2 ?‐ involves products in the electronically excited states. The data also seem to indicate the protective effect of isoproterenol on the deoxyribose degradation. 相似文献