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221.
Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease. 相似文献
222.
Cultured amniotic fluid cells from four anencephalic pregnancies were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against different types of cytoskeletal intermediate filaments. Most of the cells showed a fine fibrillar cytoplasmic fluorescence with antibodies against glial fibrillary acidic protein (GFA), indicating that amniotic fluid cells in anencephalic pregnancies are of glial origin. The GFA-positive cells were rapidly adhering and proliferating. They remained as the major cell type also in long term cultures, and could easily be recovered from liquid nitrogen without losing their GFA positivity. GFA-positive cells were pleomorphic in appearance, and occurred in several morphologically different shapes. Amniotic fluid from one of the anencephalic cases contained typical neuronal cells, which in IIF were GFA-negative but could specifically be stained with anti-neurofilament antibodies. Most of the GFA-negative cells in all the cases were fibroblasts, identified by their fluorescence only with antibodies against vimentin. Epithelial cells showing positive keratin-fluorescence in IIF, were seen only occasionally. 相似文献
223.
Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β-glucuronidase deficiency)
We had the opportunity of investigating a case (BK) of a severe form of mucopolysacchari- dosis with nearly total deficiency of β-glucuronidase in serum, leucocytes and fibroblasts. We here report results obtained by prenatal diagnosis of a clinically normal child (BK's sister), and point out the difficulty in interpreting a heterozygous level of β-glucuronidase activity in cultured amniotic cells. Four successive passages of amniotic cells were tested for β-glucuronidase and α-mannosidase activity in at-risk and control cells. In different passages, enzyme activity was between 8 and 49 per cent of controls but 2 to 18 times higher than fibroblasts from the affected brother (BK). The highest activity was observed in the first passage and the lowest in the third. The electrophoretic separation of GAGS from at-risk amniotic fluid showed a normal pattern. We discuss the correlation between enzyme levels in different passages of cultured cells and that found in leucocytes and fibroblasts from the propositus and parents. From a practical point of view, we conclude that the first passage gives the most reliable results for prenatal diagnosis. 相似文献
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Adinbitor为一通过基因工程方法获得的来自于中国白眉蝮蛇毒腺的去整合素家族的新成员 .从蝮蛇毒腺中提取总RNA进行RT -PCR扩增 ,获得了 2 19bp的白眉蝮蛇去整合素基因 .cDNA测序及由此推导的氨基酸序列结果显示 ,Adinbitor为含有 73个氨基酸的多肽 ,其中包括 12个半胱氨酸 ,并具有去整合素的特征模序 -RGD .对此去整合素基因进行克隆、转化与诱导后 ,得到了该蛋白的可溶性高效表达 .经组氨酸亲和层析纯化 ,获得了分子量Mr为 9×10 3 的均质融合蛋白 ,并将其命名为adinbitor.序列分析表明 ,adinbitor与已发表于GENBANK上的整合素序列有很高的同源性 ,其中同源性最高的是南韩的saxatilin ,二者的蛋白质同源性高达 91.78% .活性测定结果表明 ,Adinbitor能有效地诱导神经胶质瘤细胞C6的细胞凋亡 ,有希望成为一种抗癌新药 .图 5参 15 相似文献
228.
Per- and polyfluorinated alkyl substances (PFASs) are commonly used in industrial processes and daily life products. Because they are persistent, they accumulate in the environment, wildlife and humans. Although many studies have focused on two of the most representative PFASs, PFOS and PFOA, the potential toxicity of short-chain PFASs has not yet been given sufficient attention. We used a battery of assays to evaluate the toxicity of several four-carbon and six-carbon perfluorinated sulfonates and carboxyl acids (PFBS, PFHxS, PFBA and PFHxA), with a human mesenchymal stem cell (hMSC) system. Our results demonstrate significant cyto- and potential developmental toxicity for all the compounds analyzed, with shared but also distinct mechanisms of toxicity. Moreover, the effects of PFBS and PFHxS were stronger than those of PFBA and PFHxA, but occurred at higher doses compared to PFOS or PFOA. 相似文献
229.
Over half of century, sanitary landfill was and is still the most economical treatment strategy for solid waste disposal, but the environmental risks associated with the leachate have brought attention of scientists for its proper treatment to avoid surface and ground water deterioration. Most of the treatment technologies are energy-negative and cost intensive processes, which are unable to meet current environmental regulations. There are continuous demands of alternatives concomitant with positive energy and high effluent quality. Microbial fuel cells (MFCs) were launched in the last two decades as a potential treatment technology with bioelectricity generation accompanied with simultaneous carbon and nutrient removal. This study reviews capability and mechanisms of carbon, nitrogen and phosphorous removal from landfill leachate through MFC technology, as well as summarizes and discusses the recent advances of standalone and hybrid MFCs performances in landfill leachate (LFL) treatment. Recent improvements and synergetic effect of hybrid MFC technology upon the increasing of power densities, organic and nutrient removal, and future challenges were discussed in details. 相似文献
230.
Plasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). Normal results were obtained in three of the samples and post-natal examination or fetal ultrasound studies confirmed that the fetuses were unaffected. Chorionic villus culture in one case demonstrated defective plasmalogen biosynthesis and lack of phytanic acid oxidation. Pregnancy was interrupted at 10 weeks. Immunoblot studies of post-mortem fetal tissues showed thatperoxisomal 3-oxoacyl-coenzyme A thiolase was present in the unprocessed form, a finding we had previously demonstrated in RCDP. These results establish that RCDP can be identified prenatally. 相似文献