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21.
We have examined the mutational basis of adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) deficiency (MIM 102600) in a patient of Polish origin who has been passing 2,8-dihydroxyadenine (DHA) stones since birth, but has considerable residual enzyme activity in lymphocyte extracts. The five exons and flanking regions of APRT were amplified by PCR and then sequenced. A single T insertion was identified at the intron 4 splice donor site (TGgtaa to TGgttaa:IVS4+2insT) in one allele from the proband, his mother, and brother. A G-to-T transversion in exon 5 (GTC-to-TTC:c.448G>T, V150F) was identified in the other allele, and this mutation was also present in one allele from the father and the paternal grandmother. Tru91 and AvaII digestions of PCR products spanning exons 4 and 5, respectively, confirmed the mutations. The mother was heterozygous for an intragenic TaqI site, but all other family members were homozygous for the presence of this site. IVS4+2insT, located on the allele containing the TaqI site, has been identified previously in several families from Europe, suggesting a founder effect, but the substitution in exon 5 is a novel mutation. IVS4+2insT is known to result in complete loss of enzyme activity, and our results suggest that V150F produces an enzyme that is nonfunctional in vivo but has considerable residual activity in vitro.  相似文献   
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Two different hapten designs have been suggested for production of generic antibodies. The first approach was based on the immunogen prepared by conjugating simazine mimic to carrier proteins through the Cl position of the s-triazine herbicide. For sulfonylurea herbicides a single ring hapten strategy was designed in order to produce antibodies with dominant selectivity towards arylsulfonyl or triazine moieties of metsulfuron-methyl. The best monoclonal antibody raised against simazine-derived hapten mimic (clone B10/B8/D2) exhibited in direct ELISA a broad pattern for a group of methylthio and methoxy s-triazines. Cross-reactivities based on simazine ( = 100%) were 417, 125, 25, 50, 28, 42 and 11% for simetryn, ametryn, prometryn, terbutryn, aziprotryn, atraton and atrazine, respectively. The superiour generic pattern was found for monoclonal antibody raised against s-triazine moiety of metsulfuron-methyl herbicide (clone 2C8/C8). This antibody showed in indirect ELISA the cross-reactivity values 100, 142, 95, 60, 40, 167, 83 and 21% for metsulfuronmethyl, cinosulfuron, triasulfuron, primisulfuron-methyl, thifensulfuron-methyl, chlorsulfuron and prosulfuron and tribenuron-methyl, respectively. The assays using both monoclonal and polyclonal antibodies operated within the ppt-ppb calibration ranges.  相似文献   
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Graded porous titanium coatings have been deposited on titanium substrates for dental implants by plasma spraying in an argon atmosphere. X-ray diffraction (XRD), scanning electron microscopy (SEM), surface roughness measurement, and tensile strength tests were performed on graded porous coatings. The results showed that Ti(3)O(5) was formed in the outermost surface of the porous coatings due to oxidation. The graded porous coatings consisted of three layers. The outer layer was full of macropores with a surface roughness of approximately 100 microm. The diameter of many macropores reached and even surpassed 150 microm, which could be beneficial for tissue to grow into the coating. The middle layer consisted of a mixture of micropores and macropores. The inner layer was a very dense and tight interface layer that included mechanical, physical, and metallurgical bonding. In tensile strength tests, testing bars peeled off the coatings, because the adhesive agent fractured, but the coatings remained intact.  相似文献   
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本文提出并研究了一种新型的电磁热疗系统-H面号角环形相控阵系统。推导出了适应性广的理论公式。以肺部CT图为模型,用矩量法计算得到了胸腔横断面内电场分布及吸收功率分布的计算机数值结果。结果表明,在200MHz的电磁波辐射下,适当调节阵列各单元的相位,振幅和位置,肺部肿瘤可得到优化的选择性加热,从而达到最佳的热疗效果。  相似文献   
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Oneofthereasonsforfailureofchemotherapyintreatingleukemiaisthattheleukemiccellspresentdrugtolerancetochemotherapeuticagents.Thecur renthotpointofanti leukemicdrugtoleranceresearchismultidrugresistance(MDR).MDRcouldbegen erallydividedaccordingtoitsmech…  相似文献   
29.
邓孺英 《中国病案》2001,2(3):29-29
病案首页是医院医疗统计最基本的数据,《中华人民共和国统计法》第二条规定:“统计的基本任务是对国民经济和社会发展情况进行统计调查、统计分析,提供统计资料和统计咨询意见,实行统计监督。”数据不准确为上级卫生行政部门了解和掌握居民的医疗需求,医疗服务情况,编制区域医疗规划与卫生事业发展计划,评价医疗服务的社会效益和经济效益,对领导部门决策、与世界各国的资料交流等都会产生不良影响。所以病案首页的准确填写很重要,要认真、如实、规范才能真正反映实际情况。现就常见不规范或填写不准确的主要情况列出如下:  相似文献   
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Wang  Ben  Deng  Yu-xuan  Yan  Sha  Xie  Hong-fu  Li  Ji  Jian  Dan 《Lasers in medical science》2021,36(3):649-655
Lasers in Medical Science - Acne scarring is one of the most common facial skin disorders. The appropriate treatments for acne scars in patients with rosacea have not been studied. This study was...  相似文献   
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