Prenatal diagnosis of free sialic acid storage disorders (SASD)

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.     

Ochratoxin A and Penicillic acid interaction in mice

Abstract

Penicillic Acid (PA) and Ochratoxin A (OA) are toxic fungal metabolites that are synergistic in combination. This interaction was investigated using mice which were dosed orally as follows: control, none; solvent control, 0.2 ml bicarbonate buffer; PA, 40 mg/kg; OA, 10 mg/kg and combination, 40 mg/kg PA + 10 mg/kg OA. The only significant histopathologic change observed was an acute multifocal toxic tubular nephrosis which appeared most severe in the combination‐treated mice killed on day 10. While the combination group had a death rate of 20% (5/25), no deaths occurred in the other treatment groups. The increased death rate and the extensive nephrotoxic findings in the combination group indicate a toxic interaction between OA and PA at sub‐lethal dose levels and is consistent with a renal site of action.     

Maternal serum human chorionic gonadotrophin and pregnancy-associated plasma protein a,markers for fetal down syndrome at 8–14 weeks

Maternal serum levels of human chorionic gonadotrophin and its subunits (intact, α, and free βhCG) and pregnancy-associated plasma protein A (PAPP-A) were measured in 279 women between 8 and 14 weeks' gestation. This group included 23 pregnancies in which the fetus had Down syndrome (DS), diagnosed either at birth or during the second trimester (n=17) or from chorionic villus sampling (CVS) (n=6). Normal medians were determined from the 258 apparently normal pregnancies. The median levels of intact hCG (1·4 MOM) and free βhCG (2·1 MOM) were significantly raised, whereas the median level of PAPP-A (0·39 MOM) was significantly lower in the DS pregnancies when compared with the control group. Levels of αhCG were similar in both the control and the DS pregnancies. Analysis of samples taken prior to 14 weeks' gestation demonstrated that only PAPP-A (0·34 MOM) was significantly altered in DS pregnancies. However, after the exclusion of DS cases diagnosed at CVS, the median intact hCG (1·56 MOM), free βhCG (2·27 MOM), and αhCG (1·8 MOM) were all raised in DS pregnancies. This emphasizes the problem of the interpretation of biochemical markers when DS cases are diagnosed at CVS.     

Fabrication of electrochemically-modified BiVO4-MoS2-Co3O4composite film for bisphenol A degradation

A new electrochemically-modified BiVO₄-MoS₂-Co₃O₄ (represented as E-BiVO₄-MoS₂-Co₃O₄) thin film electrode was successfully synthesized for environmental application. MoS₂ and Co₃O₄ were grown on the surface of BiVO₄ to obtain BiVO₄-MoS₂-Co₃O₄. E-BiVO₄-MoS₂-Co₃O₄ film was achieved by further electrochemical treatment of BiVO₄-MoS₂-Co₃O₄. The as-prepared E-BiVO₄-MoS₂-Co₃O₄ exhibited significantly enhanced photoelectrocatalytic activity. The photocurrent density of E-BiVO₄-MoS₂-Co₃O₄ thin film is 6.6 times that of BiVO₄ under visible light irradiation. The degradation efficiency of E-BiVO₄-MoS₂-Co₃O₄ for bisphenol A pollutant was 81.56% in photoelectrochemical process. The pseudo-first order reaction rate constant of E-BiVO₄-MoS₂-Co₃O₄ film is 3.22 times higher than that of BiVO₄. And its reaction rate constant in photoelectrocatalytic process is 14.5 times or 2 times that in photocatalytic or electrocatalytic process, respectively. The improved performance of E-BiVO₄-MoS₂-Co₃O₄ was attributed to the synergetic effects of the reduction of interfacial charge transfer resistance, the formation of oxygen vacancies and sub-stoichiometric metal oxides and higher separation efficiency of photogenerated electron-hole pairs. E-BiVO₄-MoS₂-Co₃O₄ is a promising composite material for pollutants removal.     

双酚A类似物的雄性生殖毒性研究进展

聚焦BPA类似物对雄性动物的生殖毒性研究,分析双酚S、双酚F、双酚AF、双酚B和双酚E对哺乳类实验动物睾丸及组织结构、附睾重量及组织学结构、激素水平、精子参数等常规指标的影响,考察关于鱼类和两栖类动物的研究.研究发现,不管暴露剂量高低、暴露方式的差异或是动物种属的不同,所有BPA类似物的暴露都显示阳性结果,这与BPA雄性生殖毒性尚有争议的事实形成对比,暗示这些BPA类似物具有比BPA更明显的雄性生殖毒性.总体来看,目前的BPA类似物雄性生殖毒性的数据只局限在有限的几个实验室,且实验的质量控制难以评价.因此,BPA类似物的雄性生殖毒性的数据还需要更多实验室的验证,并且过程中需要严格控制动物实验的质量,以获得更加可靠且可重复的结果.     

碳化硼促进Psendomonas stutzeri A1501电催化固氮产氨及机制

以Pseudomonas stutzeri（P.stutzeri） A1501为模式固氮菌株、碳化硼（B₄C）为典型电子传递载体构建电催化氮还原体系,探究B₄C添加对该体系固氮产氨性能的影响.结果表明,B₄C能够显著提高P.stutzeri A1501介导的电催化氮还原体系的产氨性能.在0.4g/L投加量条件下,900℃煅烧温度下制备的B₄C（B₄C₉₀₀）的添加能够使电催化体系氨累积量提高117%,这是由于B₄C₉₀₀表面丰富的活化位点能够促进N₂吸附与活化.此外,电化学和光谱学谱图表明,B₄C₉₀₀的添加不仅能够促使P.stutzeri A1501分泌更多的氧化还原活性物质,而且驱动高活性阴极生物膜的形成,进而强化电极电子的长距离传递及利用.     

高原生境下A2O工艺对污水处理的微生物机制

基于Illumina MiSeq高通量测序技术,以高原生境下A²O工艺的活性污泥为研究对象,探讨不同温度下微生物群落结构、丰度及相关性.结合污染物分解、吸附及转化等代谢过程中的主要功能蛋白、功能基因、酶的种类及丰度在碳、氮、磷等污染物代谢途径中的作用,从生物化学和分子水平的角度分析了高原地区A²O工艺对污水处理的微生物学机制.结果表明：优势细菌门为变形菌门、拟杆菌门、放线菌门、厚壁菌门及绿弯菌门,优势细菌属为norank_f__AKYH767、腐败螺旋菌、Ottowia、伯克氏菌、IMCC26207、Novosphingobium.污染物去除和微生物群落发挥作用的效果在15℃为最优,微生物群落的COG、代谢途径、基因和酶活性最适宜的温度为20℃.主要功能蛋白为一般功能预测、氨基酸运输与代谢和基因转录;主要代谢途径为：ABC转运蛋白,细菌双组分调节系统,嘌呤、核糖体及嘧啶等代谢,主要功能基因的产物（酶）为：烯酰辅酶A水合酶、乙酰辅酶A C-乙酰转移酶、醛脱氢酶（NAD⁺）、硫代硫酸盐及外多磷酸酶.