急性胰腺炎患者血浆C肽和胰高血糖素的水平及意义

目的测定急性胰腺炎患者血浆中胰岛分泌C肽（CP）和胰高血糖素（GG）的水平，探讨胰岛内分泌细胞的功能变化。方法采用放射免疫分析法测定84例急性胰腺炎患者（其中重型急性胰腺炎24例，轻型急性胰腺炎60例）和40例急性胆囊炎患者（对照组）血浆中CP和GG水平。比较各组患者CP和GG水平的变化，判断胰岛A、B细胞的功能。结果重型急性胰腺炎组患者CP水平于发病后第6天、第9天、第12天明显低于对照组（P〈0．05），GG水平于发病后第9天、第12天明显低于对照组（P〈0．05）。轻型急性胰腺炎组患者CP和GG的水平与对照组比较差异无统计学意义（P〉0．05）。结论（1）重型急性胰腺炎时胰岛内分泌细胞受到破坏，血浆中CP、GG水平降低；CP能准确、及时地反映胰岛B细胞受损程度。（2）GG水平可以反映胰岛A细胞功能，重型急性胰腺炎时B细胞可能比A细胞更早受到破坏。     

血清唾液酸及铜蓝蛋白对尘肺早期肺纤维化的意义

目的探讨敏感的尘肺早期肺纤维化指标。方法采用免疫透射比浊法测定98例Ⅰ期尘肺病患者、95例X线胸片表现尚不能够诊断为Ⅰ期的0^＋者及80例无尘肺病对照者血清唾液酸（SA）及铜蓝蛋白（CP）含量。结果Ⅰ期尘肺患者血清SA及CP含量明显高于0^＋者，0^＋者血清SA及CP含量明显高于无尘肺对照组，差异均有统计学意义（P〈0．01或P〈0．05）。结论检测SA和CP含量对尘肺早期肺纤维化程度的估计具有一定的临床意义。     

水甘油通道蛋白7在女性绝经后肝细胞脂肪变性中的作用

目的了解水甘油通道蛋白7（AQP7）在绝经后肝细胞脂肪变性中的调控作用。方法建立绝经小鼠模型和油酸诱导的HepG2脂肪变性模型,HE染色和油红0染色法分别观察小鼠肝组织切片和HepG2细胞脂肪变性程度;qPCR法和Western印迹法检测小鼠肝组织切片中AQP7、肝细胞内成脂关键酶的mRNA及蛋白水平,检测HepG2肝细胞中AQP7的mRNA及蛋白水平。结果去势动物模型的低雌激素状态和对照组相比,引起明显肝细胞脂肪变性,脂质合成关键酶乙酰-CoA羧化酶（ACC）、脂肪酸合成酶（FAS）、甘油3磷酸酰基转移酶（GPAT）及3．磷酸甘油醛脱氢酶（GAPDH）表达上调,AQP7mRNA及蛋白水平表达下调,差异均有统计学意义（P均〈0．01）;而补充雌激素可降低上述酶的表达,同时AQP7mRNA及蛋白水平表达上调（P均〈0．05）。建立油酸诱导的HepG2脂肪变性肝细胞模型发现：补充雌激素可减少脂质沉积,AQP7mRNA水平及蛋白水平相对值分别为（1.31±0．06）和（0．47±0．01）,较对照组均明显改善,而转染AQP7siRNA后该效应减弱,AQP7mRNA水平及蛋白水平相对值分别为（0．25±0．01）和（0．06±0．01）,均低于对照组,差异具有统计学意义（P〈0．05）;进一步添加雌激素后,AQP7mRNA水平及蛋白水平的相对值分别为（0．40±0．02）和（0．20±0．01）,均优于对照组,差异有统计学意义（P〈0．05）。结论AQP7可能在雌激素调节肝细胞甘油三酯合成通路中发挥作用。     

血清纤维结合蛋白检测在病毒性肝病中的临床意义

纤维结合蛋白（Fibronectin，简称Fn），广泛存在于机体组织和血液内，具有非特异调理功能的糖蛋白。血清中的Fn主要由肝细胞、内皮细胞和巨噬细胞合成‘·’，在肝损害时，其合成减少，血清中浓度降低。本文采用自动透射比浊法，对75名正常人和各型病毒性肝炎患者662例血清Fn进行测定，并探讨其临床意义。一、材料与方法1．对象（l）正常对照组：75例正常健康成人（不分男女）。（2）病毒性肝炎组：共662例，均为本院住院患者，诊断分型根据1995年（北京）第五次全国传染病寄生虫病学术会议讨论修订标准。其中急性肝炎（包括黄疽型和无黄…     

肝豆状核变性基因8号外显子突变DNA分析方法的研究

目的对肝豆状核变性(又称Wilson病,WD)基因的突变热点外显子8进行MspⅠ酶切、DNA测序,进而对实验中的方法进行研究.方法对102 例病人和20例对照正常人提取基因组DNA,PCR扩增ATP7B第8号外显子,扩增产物进行MspⅠ酶切反应,并进行双向 DNA直接测序;讨论分析PCR扩增、MspⅠ酶切方法学上的改进,并对测序结果与临床表型做相关研究.结果102例WD病人,在反复多次改进实验方法后,发现35例存在MspⅠ酶切异常,测序示8号外显子Arg778Leu纯合突变,占所有WD病人的34.31%,其中 1例伴Leu770Leu多态性;对照组未检出突变.结论改进实验方法后发现WD突变热点8号外显子中Arg778Leu为主要突变形式,PCR-MspⅠ酶切反应可作为WD病人ATP7B8号外显子突变的筛选方法,直接测序是确定8号外显子突变位点的可靠方法.     

性病后慢性前列腺炎前列腺液相关病原菌检查及疗法探讨

目的探索慢性前列腺炎（CP）和性病在病原方面的联系，评价综合疗法治疗性病后CP的疗法。方法治疗前对所有性病后CP患者的前列腺按摩液（EPS）进行相关病原微生物检测；78例患者随机分为3组，单用左氧氟沙星治疗（A组），采用左氧氟沙星、α1受体阻滞剂（高特灵）、微波治疗（B组），采用左氧氟沙星、中药、微波治疗（C组）。疗程均为一个月。通过治疗前后EPS白细胞计数及CP症状积分指数（CPSI）评分结果比较3种疗法治疗性病后CP的疗效。结果78例患者EPS中检出性病相关病原者9例。三组患者治疗后EPS白细胞计数和CPSI评分均较治疗前下降（P〈0．01），其中B、C两组下降较A组显著（P〈0．01），B、C两组间差异无显著性（P〉0．05）。结论性病后CP和性病之间在病原学上无严格的因果关系，综合疗法治疗性病后CP较单一疗法优越。     

HLA—DR基因及乙肝病毒基因型与肝细胞癌相关性的初步研究

[目的]探讨乙型肝炎病毒（HBV）感染人群HLA—DR基因、HBV基因型与肝细胞癌的相关性。[方法]2007～2008年,应用序列特异性引物-聚合酶链反应（SSP—PCR）方法与荧光PCR（探针）法,分别对40例慢性乙肝患者（试验1组）、38例肝硬化患者（JR验2组）和34例肝细胞癌患者（试验3组）的HLA—DR等位基因、HBV基因型进行检测,并以中华骨髓库山东分库无血缘关系的自愿骨髓捐献者1383例为对照,分析其表达与肝细胞癌的相关性。[结果]HLA—DR1基因的检出率,试验3组为14．71％,对照组为4．85％（P〈0．05）;HLA—DR13基因的检出率,试验3组为14．71％,试验1组为0．00％（P〈O．05）;试验2组与试验3组各等位基因表型的检出率差异均无统计学意义（P〉0．05）。HBV基因型B型、C型、非B非C型所占比例,试验1、2、3组的差异无统计学意义（P〉0．05）。试验3组中,HLA—DR1、DR13阳性的5例均为HBV基因C型;其他29例HBV基因C型23例、非B非C型6例（P〉0．05）。[结论]HLA—DR1可能是肝细胞癌的易感基因．携带HLA—DR13基因位点的HBV感染者更易发展为肝细胞癌。     

心肌梗死患者细胞间黏附分子-1基因多态性研究

目的探讨汉族人群中细胞间黏附分子-1（ICAM-1）第4外显子＋12959G／A、第6外显子＋13848A／G基因多态性与心肌梗死（心梗）的相关性。方法提取165例心梗患者（包括急性心梗和陈旧性心梗）和199名健康对照者的DNA，采用序列特异性引物扩增法和聚合酶链反应-限制性片段长度多态性技术检测ICAM-1＋12959G／A、＋13848A／G基因多态性，同时测定血脂及血清超敏C-反应蛋白（hsCRP，采用定量酶联免疫吸附试验技术）水平。结果湖北地区汉族人群中存在＋13848A／G多态性，在心梗组中基因型分布为：AA型58．2％、AG型37．0％、GG型4．8％；对照组分别为45．7％、45．2％、9．0％，两组比较差异有统计学意义（P〈0．05）；基因型频率的相对风险分析发现，AA型患心梗的风险是GG型及AG型的1．651倍（OR=1．651，95％CI：1．089～2．504）。未检出＋12959G／A多态性。结论ICAM-1＋13848A／G基因多态性与湖北地区心梗易感性有关，＋13848A等位基因可能是心梗发病的重要易感基因。     

早期检测颅脑损伤患者血清S—100B蛋白含量的临床意义

目的：通过检测颅脑损伤患者血清S-100B蛋白含量，研究S-100B蛋白含量与颅脑损伤严重程度及预后的关系，为诊断、预后评估及治疗提供理论依据。方法：选取30例正常体检者为对照组，取其血清标本检测S-100B蛋白含量。选取颅脑损伤患者60例，分别于伤后早期（2-6h）及伤后第1、2、3、5、7、10天采血，检测血清中S-100B蛋白含量，比较其在伤后不同时间的血清S-100B蛋白含量。结果：颅脑损伤患者伤后血清S-100B蛋白含量与对照组相比，除轻中型组第10天差异无统计学意义外，其余比较差异均有统计学意义（P〈O．05）。GCS〉8分组与GCS≤8分组患者及不同预后组之间血清S-100B蛋白含量差异有统计学意义（P〈0．05）。结论：S-100B蛋白在颅脑损伤的诊断及严重程度的判断中有高度敏感性和特异性，是一种有效的生化指标，能为颅脑损伤的诊断、预后评估及治疗提供理论依据。     

120例2型糖尿病患者超敏C反应蛋白的临床分析

目的 探讨2型糖尿病患者血清超敏C-反应蛋白（hs-CRP）水平与甘油三酯（TG）、胆固醇（TC）、低密度脂蛋白-胆固醇（LDL-C）、总胆固醇（TC）/高密度脂蛋白-胆固醇（HDL-C）的关系.方法 采用美国ARCHITECT Ci 8200生化分析仪对120例2型糖尿病患者（A、B、C三组）及40例健康对照的hs-CRP、TG、TC、HDL-C、LDL-C进行测定.结果 120例2型糖尿病患者hs-CRP比对照组明显升高（ P 〈0.001）,C组hs-CRP明显高于B、A组（ P 〈0.001）,B组高于A组（ P 〈0.05）且与TG、TC、LDL-C、TC/HDL-C正相关.结论 hs-CRP可作为2型糖尿病并发症出现的风险预测指标.     

ATP hydrolytic activity of an iron-stimulated P-type ATPase of mouse liver microsomes

Mouse liver microsomes treated with octylthioglucoside were examined for iron-stimulated ATPase activity. The activity was about 6 mumol Pi/mg protein/hr under optimal conditions [300 mM KC1, 3 mM MgSO4, 10 mM glutathione(GSH), 100 microM FeCl3, 3 mM ATP and 50 mM acetate buffer at pH 5.0]. The Km for iron was 20 microM. A reducing agent, such as GSH or dithiothreitol, was required for the activity, and removal of Fe2+ from the reaction mixture by bathophenan-throlinedisulfonate resulted in a complete loss of the iron-stimulated ATPase activity. Vanadate inhibited the iron-stimulated ATPase activity. These results suggest that microsomes from mouse liver contain the Fe(2+)-stimulated P-type ATPase.     

Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography

BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase. ATP7B mutations are scattered over the entire gene, and scanning methods to detect mutation carriers are in demand. We have tested the usefulness of denaturing high-performance liquid chromatography for mutation detection in Wilson's disease. METHODS: Genomic DNA from five Sardinian Wilson's disease families (32 individuals, 8 patients) was subjected to polymerase chain reactions for ATP7B exons 2-21 and the 5' untranslated region. PCR products were analyzed by chromatography and by direct sequencing. RESULTS: Three disease-causing mutations and seven sequence variants were detected by chromatography. Five patients were homozygotes for -441/-427del, and three were compound heterozygotes for V1146M plus 1512-13insT (N505X) and for -441/-427del plus V1146M, respectively. Eighteen unaffected individuals were mutation carriers. Sequence variants comprised V290V, A406S, L456V, R832K, A1140V, the novel K952R, and T991T. The novel intronic IVS18+6c>t change escaped detection by chromatography. CONCLUSIONS: Denaturing high-performance liquid chromatography is a dependable tool for ATP7B screening that is superior to traditional haplotyping. This method allows for fast, sensitive, and specific mutation detection and identification of carriers in Wilson's disease families.     

Phylogenetic analysis of severe fever with thrombocytopenia syndrome virus in Korean water deer (Hydropotes inermis argyropus) in the Republic of Korea

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging zoonotic tick-borne disease caused by SFTS virus, which circulates among ticks and their host animals, including wildlife. However, few studies have examined SFTS virus infection in wildlife present in the Republic of Korea (ROK). We evaluated SFTS virus infection in tissue samples from Korean water deer (Hydropotes inermis argyropus), one of the most common wild ungulates in ROK. In this study, we evaluated tissue samples of 129 water deer carcasses collected in 2017 and detected SFTS viral RNA by conventional PCR. SFTS viral RNA was found in 3 of the 129 carcasses, showing a prevalence of 2.3 %; 2 of which were collected in Gyeongsangnam-do and 1 of which was in the Gangwon-do region. Among the 6 internal organs studied, only the spleen samples were positive. Phylogenetic analysis revealed close relationships between deer- and human-derived strains. The medium segments of the three positive cases clustered with genotype B, which is the predominant genotype in ROK. In the small segment, two cases clustered with genotype B, samples 17WD044 and 17WD065. The third sample, 17WD068 from Gangwon-do province, showed genotype A, which circulates mainly in China. The disagreement in the genotypes of the two tested segments suggests a potential reassortment between genotype A and B, resulting in genetic recombination as observed in sample 17WD068, which may be co-circulating in China and Korea. Further studies in wildlife and humans are necessary to understand the genetic characteristics of SFTS viruses circulating in ROK.     

二十二碳六烯酸和二十碳四烯酸对早产儿脂肪酸状况和生长的影响

目的 :　探讨补充模拟母乳水平的二十二碳六烯酸 (DHA)和二十碳四烯酸 (AA)对早产儿体内脂肪酸状况和生长发育的影响。方法 :　选取体重 <2 1 0 0 g,胎龄 <37w的早产儿 32名 ,分为三组 :A组 ,母乳喂养组 ;B组 ,传统配方喂养组 ;C组 ,DHA和 AA补充组。C组配方补充至婴儿体重达 (2 .5± 0 .1 0 ) kg。出生后 1 mo± 7d、2 mo± 7d、3mo± 7d分别测量身长、体重、头围 ;出生时和体重达 (2 .5± 0 .1 0 ) kg时分别测血浆和红细胞中的 DHA和 AA的水平。结果 :　至 3个月时 ,B组的头围明显低于 A组及 C组 ,差异具有统计意义 (P<0 .0 5) ;三组早产儿刚出生时 ,红细胞和血浆中各种脂肪酸比例无显著差异 ;至体重 (2 .5± 0 .1 0 ) kg时 ,B组的 DHA和 AA明显低于A组和 C组 (P<0 .0 5)。相关分析显示 :头围与血浆中的 AA水平相关 (r=0 .466,P<0 .0 1 )。结论 :　给早产儿补充模拟母乳水平的 DHA和 AA,不仅能维持其正常的生长发育 ,而且可将早产儿血浆和红细胞中的 DHA和 AA提高至与母乳喂养早产儿相当的水平     

血清中甲状腺功能与铜蓝蛋白联合检测在慢性乙肝患者中的临床意义

目的了解血清中甲状腺功能和铜蓝蛋白联合检测在乙肝患者中的临床意义。方法采用化学发光法测定90名乙肝患者血清中的甲状腺功能和血清中铜蓝蛋白（采用散射比浊法）的测定结果与健康对照组（NC）进行比较,寻找各指标之间的差异。结果铜蓝蛋白、T3、T4、FT3、FT4、TSH在乙肝患者中均有所下降（P〈0.05）,而且随着乙肝病情加重而下降的趋势更为明显。结论上述指标在不同病程乙肝患者与正常人之间的差异存在统计学意义,为临床评估乙肝的病情和预后提供了一个有效的辅助指标。     

From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts for most of the characteristic features ofMenkes disease patients.     

北京某高校教职工人群体重指数与血脂水平现况研究

目的分析北京某高校教职工体检人群体重指数(BMI)、血脂异常率情况。方法以2009年5～6月在北京交通大学医院接受常规体检的2848人为研究对象,按照不同年龄段分为7组,分别测定BMI及血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平。结果北京某高校教职工超重和肥胖的比例高达46.1%,BMI随年龄的增长而逐渐增加,到60～69岁年龄组达到高峰,以后逐渐下降。体检者高胆固醇血症、高甘油三酯血症、高密度脂蛋白胆固醇降低和低密度脂蛋白胆固醇增高率分别为9.9%、14.8%、9.9%、8.1%;血脂异常率随BMI的增加而增高。结论北京某高校教职工超重、肥胖和血脂异常的患病率近年来呈升高趋势。随BMI的增加,血脂异常率明显增高。     

胎儿染色体异常的孕中期联合筛查

目的 :应用产前联合筛查 ,筛查胎儿染色体异常的可行性。方法 :对 2 5 90名孕妇的年龄及病史、血清学、超声的联合筛查 ,并行产前诊断及染色体核型分析。结果 :染色体异常 7例 ,检出率 7.2 2 % (7/97) ,以染色三体为主 4例 ,占 5 7.14 % (4 /7)。结论 :通过联合筛查及产前诊断可检出胎儿染色体异常 ,选择性终止妊娠 ,减少出生缺陷。但联合筛查的指标还需完善。     

应用分子遗传学方法进行Wilson病的症状前诊断

目的 采用分子遗传学的方法，为Wilson病（WD）家系中症状前期WD患者明确诊断。方法 采用与Wilson病致病基因紧密连锁的遗传标记。构建染色体单体型。分析先证者与待诊者的异同；检测待诊者是否存在与先证者相同的致病突变，寻找症状前期患者。结果 在10个WD家系中找到了2例症状前期的WD患者其中一例为仅1个月的婴儿；同时为一例血清铜蓝蛋白低于正常的携带者明确了诊断。结论 采用染色体单体型分析结合突变检测的方法，能为WD家系中症状前期病人明确诊断，使之得到及时的治疗。     

Molecular regulation of copper excretion in the liver

Cu is an essential nutrient that is required for a broad range of cellular and molecular processes. Mammals have efficient systems to control Cu homeostasis that operate at the level of controlling uptake, distribution, sequestration and excretion of Cu. The study of diseases associated with disturbed Cu homeostasis has greatly enhanced our understanding of the molecular mechanisms involved in Cu metabolism. In man the liver is responsible for excreting excess Cu from the body by means of biliary secretion. Wilson disease is a severe human disorder characterized by Cu accumulation in the liver as a result of a deficiency in biliary Cu secretion. This disorder is caused by mutations in the gene that encodes a Cu-transporting P-type ATPase (ATP7B). The MURR1 gene was identified recently, and it was hypothesized that this gene is also essential for biliary Cu excretion and is presumed to act downstream of ATP7B. MURR1 is mutated in canine Cu toxicosis, a disorder with phenotypic characteristics similar to those of Wilson disease. MURR1 encodes a protein that is of unknown function and is without detectable sequence homology to known proteins. MURR1 is readily detected in all tissues and cell types, suggesting that it may exhibit a pleiotropic function in different organs, which may or may not be exclusively linked to Cu homeostasis. The use of genetic, biochemical and genomic tools, as well as the development of appropriate models in organisms other than dog, will allow the elucidation of the molecular and cellular function of MURR1 in relation to hepatic Cu homeostasis and biliary Cu excretion.