基于"WD倒谱"法分析人体脾组织的超声散射微结构特征

本文提出了一种对超声散射信号分析的新方法--“WD倒谱”法,并利用该方法对人体正常脾和脾增生组织的回波信号进行了分析,对软组织中散射子的平均间距进行了估计,结果表明：两种脾组织散射子的平均同距明显不同;“WD倒谱”能有效的反映软组织的微观结构特征,说明“WD倒谱”是软组织超声散射信号分析与软组织散射子平均间距定征的一种有效方法。     

Gene mutations in Wilson disease in Egyptian children: Report on two novel mutations

Background and study aimsWilson disease (WD) is an autosomal recessive disorder, caused by defects in copper-transporting P-type adenosine triphosphatase (ATPase) encoded by the ATP7B gene, resulting in the deposition of copper in the liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. The objective of this study was to determine the frequency of the most common European mutation (p.H1069Q) in Egyptian children with WD, in addition to screening for previously reported mutations in the Egyptian patients in our selected group.Patients and methodsDirect DNA sequencing was applied to exons (13, 14, 18, and 19) of the ATP7B gene for 19 patients previously diagnosed with WD. Then DNA sequencing and pedigree analysis were performed in the families of the patients showing variations in their results for the purpose of family screening and carrier detection. Six out of 19 patients were studied with their families (three families).ResultsWe identified five variants of which two were novel among the studied patients. One of the novel variants was synonymous substitution (p.A1074A) in 16% of patients and the other was predicted to be missense disease-causing mutations (p.T1076I) in 16% of patients, and three previously published mutations p.H1069Q were detected in 5% of patients, p.P1273Q in 10% of patients, and a silent variant p.A1003A in 26% of patients.ConclusionScreening for the two exons 14 and 18 of the ATP7B gene is important in Egyptian patients especially in suspected patients without hepatic manifestations.     

肝豆状核变性诊治现状

肝豆状核变性(WD)是一种常染色体隐性遗传病,病死率高。因ATP7B基因突变导致ATP7B功能丧失或减弱而致病,临床表现为肝硬化、椎体外系症状、角膜色素沉着环等,该病必须早期诊断、早期治疗,晚期患者目前最有效的方法是肝移植。     

温胃阳汤对胃动力低下大鼠胃电活动、胃窦肌间神经丛5-羟色胺能神经及其受体的影响

[目的]观察温胃阳汤对胃动力低下大鼠胃电活动、胃窦肌间神经丛5-羟色胺（5-HT）能神经及其受体的影响.[方法]将70只Wistar大鼠随机分为正常组（10只,雌雄各半）和模型组（60只,雌雄各半）,模型组每只大鼠按10 g/kg甘草煎剂灌胃,随机分为模型3d组、7d组、温胃阳汤低、中、高剂量组及吗丁啉组.温胃阳汤低、中、高各剂量组分别予浓度为0.743 g/ml、1.485 g/ml、2.970 g/ml的温胃阳汤灌胃,吗丁啉组予0.27 mg/ml吗丁啉混悬液（按100 g体重1 ml）灌胃.观察各组大鼠胃电活动的变化,并以免疫组化方法结合图像分析技术分析5-HT免疫反应阳性产物的分布、数量和免疫反应强度.以免疫印迹法分析大鼠胃窦组织中5-羟色胺受体（5-HTR）,计算出各组的蛋白相对表达量,以百分数表示各组的蛋白表达量.[结果]一定剂量的甘草煎剂能明显抑制大鼠胃电活动,使大鼠窦组织5-HT免疫反应阳性神经纤维、神经节内阳性神经细胞体和平均光密度值明显减少,5-HTR的表达显著降低.而温胃阳汤低、中、高剂量组及吗丁啉组均可使胃动力低下大鼠胃窦组织5-HT免疫反应阳性神经纤维、神经节内阳性神经细胞体和带膨体的神经纤维增多,5-HTR的表达亦得到提高;其中中、高剂量组效果与吗丁啉组比较差异无统计学意义,与正常组比较差异有统计学意义（P＜0.05或P＜0.01）.[结论]经温胃阳汤治疗后,胃窦肌间神经丛5-HT免疫反应阳性神经纤维和神经细胞体分布增多,5-HTR表达升高,5-HT能神经活性增强,表明温胃阳汤能通过5-HT能神经参与促胃动力作用.     

驱铜治疗对Wilson病免疫功能影响的观察

目的了解Wilson病（WD）免疫功能及二巯基丙磺酸钠（DMPS）短期驱铜治疗和长期综合驱铜治疗对其影响;进而评价DMPS短期驱铜治疗及长期综合驱铜治疗的有效性、安全性、科学性。方法选取正常对照组19名、未经治疗和长期正规综合驱铜治疗≥2年的WD患者各21例,长期综合驱铜治疗WD患者、未经治疗WD患者在接受DMPS短期治疗前、后及正常对照组均采取空腹静脉血：散射比浊法测定血清免疫球蛋白、补体水平及流式细胞术进行外周静脉全血T淋巴细胞亚群、CD3^-CD16^＋CD56^＋及CD19^＋分析。结果WD未经治疗组体液免疫指标之CD19^＋、IgG、IgM均较正常对照组显著升高,C4较正常对照组显著减低;细胞免疫指标之CD4^＋、CD3^-CD16^＋CD56^＋及CD4^＋/CD8^＋均较正常对照组减低。DMPS短期驱铜治疗后CD19^＋、IgG显著减低。长期综合驱铜治疗后CD19^＋、IgG、IgM、C3、CD4^＋、CD4^＋/CD8^＋、CD3^-CD16^＋CD56^＋均有显著恢复。结论WD免疫功能紊乱：表现为体液免疫亢进,细胞免疫低下;DMPS短期驱铜治疗仅可恢复部分免疫学指标;长期综合驱铜治疗对免疫功能有显著恢复。从免疫学角度看,长期综合驱铜治疗是安全、必要的。     

Molecular cloning and characterization of a receptor for activated protein kinase C1 (RACK1) from Chinese white shrimp; Fenneropenaeus chinensis

Receptor for activated C kinase 1 (RACK1), which has seven tandem WD40 domains, is a scaffolding protein. RACK1 plays different roles by binding to different partner proteins. It is involved in hormone signaling and development, and now some evidence indicates it may have a role in innate immunity. In this paper, RACK1 cDNA from Chinese white shrimp (FcRACK1) was identified. The full length of the FcRACK1 gene is 1037 bp, including a 30 bp 5′UTR, a 957 bp ORF encoding a 318 amino acid protein, and a 50 bp 3′UTR with the polyadenylation sequence AATAAA and a poly (A) tail. The FcRACK1 protein is characterized by seven WD40 repeat domains; the ending two amino acids of each WD40 domain are WK, WD, WN, WS, WD, WD, and WQ, respectively. The length of each domain is between 30 and 44 amino acids. Multiple alignments of RACK1s showed that RACK1s are highly conserved. RT-PCR showed that FcRACK1 could be detected in hemocytes, the heart, hepatopancreas, gills, stomach, intestine, and ovary. FcRACK1 in hemocytes was down-regulated after a 2 h WSSV challenge, and FcRACK1 in gills was up-regulated after a 2 h Vibrio challenge. FcRACK1 in ovary went down after a 12 h Vibrio challenge and then up-regulated at 24 h. FcRACK1 in ovary was first down-regulated at 2 h after a WSSV challenge and then up-regulated to the highest level at 6 h. It finally went down from 12 to 24 h. In hepatopancreas, FcRACK1 was also up-regulated by microbe challenge. Our results indicated its probable role in shrimp innate immunity.     

Coenzyme dependency of alcohol dehydrogenase in the retina of the rat. IV. Retinol dehydrogenase (RDH) activity in the developing normal and retinitis rat retina, and the effect on enzyme activity of increasing concentrations of NAD or NADP

Retinol dehydrogenase activity has been determined in the developing normal, and retinitis, rat retina, using NAD and NADP as the coenzymes. Under the experimental conditions employed NADP increases RDH activity almost three-fold compared to NAD. Both types of retina reach peak activity around 3 weeks after birth. Thereafter enzyme activity falls off, particularly in the retinitis retina, the decrease being more marked when NADP is the enzyme. More importantly it has been shown that a quadrupling of NAD in the assay system increases RDH activity to NADP levels. The implications of these findings and their possible roles in vision are discussed.     

Interaction of Gbetagamma with RACK1 and other WD40 repeat proteins

Heterotrimeric G-proteins, composed of Galpha and Gbetagamma subunits, transmit numerous and diverse extracellular stimuli via a large family of heptahelical cell-surface receptors to various intracellular effector molecules. The Gbetagamma subunit plays a central role in G-protein signaling. The Gbeta subunit belongs to a large family of WD40 repeat proteins, which adopt a circular beta-bladed propeller structure. This unique structural feature confers interactions of Gbetagamma with a variety of proteins to play diverse functions. Intriguingly, we recently found that Gbetagamma can interact with three other WD40 repeat proteins, receptor for activated C kinase 1 (RACK1), dynein intermediate chain-1A and a protein of unknown function. This raises the following questions: are interactions among WD40 proteins a common theme and does the formation of a WD40-WD40 repeat protein complex constitute a protein scaffold for integrating signals from different cellular processes. We are beginning to address these issues by studying the interaction between Gbetagamma and RACK1. Here we will describe the molecular mechanism underlying this interaction and the implications of the interaction on the signal transduction of G-protein and RACK1.     

Identification of a mutation hotspot in exon 8 of W ilson disease gene by cycle sequencing

Objective To screen for mutation hotspot of Wilson disease (WD) gene in Chinese population.Methods Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with Wilson disease. Results The same missense mutation, Arg779Leu, was identified in 14 WD patients, four of whom were homozygous and the other heterozygous for this mutation.The frequency of this mutation in Chinese patients was 30%.Conclusion The codon 779 (CCG→CTG) of exon 8 of WD gene was one of mutation hotspots in Chinese.