Hypercoagulability in cancer patients grouped by syndromes differentiated with the theory of abnormal hilit in traditional Uyghur medicine

Objective

To investigate the relationship in malignant-neoplasm patients of hypercoagulability between syndromes differentiated with the theory of abnormal hilit in traditional Uyghur medicine (TUM).

Methods

A total of 248 patients with malignant tumors were enrolled. Based on the theory of TUM they were divided into two groups: abnormal Savda and abnormal Non-Savda (including abnormal Khan, abnormal Sepra and abnormal Belghem types); fifty healthy volunteers were selected as controls. Platelet (PLT), prothrombin time (PT), plasma fibrinogen (FIB), thrombin time (TT), activated partial thromboplastin time (aPTT) and D-Dimer (D-D) were measured in both groups.

Results

Compared with the control and abnormal Non-Savda groups, in the abnormal Savda group the PLT count increased (P<0.05), the PT was lengthened (P<0.01), and the FIB significantly increased (P<0.01). D-Ds in the three groups were significantly different (P<0.05). No significant difference was found in TT and aPTT values (P>0.05).

Conclusion

Hypercoagulability existed in patients with malignant tumors in the different types of TUM syndromes, especially in the abnormal Savda group; this was characterized by increased blood viscosity, platelet aggregation and thrombosis. D-D appears to be a significant predictor for the therapeutic effect of TUM in relation to malignant tumor therapies.     

Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness

Objective

To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness.

Method

Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing.

Result

Bi-allelic mutations in SLC26A4, including p.N392Y/p.N392Y, p.S57X/p.S57X and p.Q413R/p.L676Q, were detected in three families as the pathogenic causes for the deafness. No mutations were identified in GJB2 and MT-RNR1.

Conclusion

Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families.     

新疆地区维、汉民族乙型肝炎病毒耐药基因型分布与变异研究

目的 探讨新疆地区维吾尔族与汉族乙型肝炎病毒耐药基因型分布及耐药变异情况.方法 采用基因芯片对来自维族、汉族人群乙型肝炎病毒核酸阳性的927份标本进行与乙型肝炎病毒耐药相关的rtL180M、rtM204I/V、rtA181T/V和rtN236T的耐药突变和基因型分析.结果 维吾尔族与汉族的乙型肝炎病毒耐药突变率分别为53.26％和59.28％,差异无统计学意义;在4个耐药变异位点中,rtL180M、rtM204I/V、rtN236T 3个位点的突变在两个民族之间差异无统计学意义;rtA181T/V在两个民族中的突变率分别为13.04％和31.74％,差异有统计学意义(x2=13.8204,P＜0.05).结论 维吾尔族与汉族的乙型肝炎病毒耐药突变不存在差异,4个突变位点的6种突变中,只有rtA181T/V在两个民族之间有差异,且维吾尔族低于汉族,rtL180M、rtM204I/V和rtN236仍是维吾尔族乙型肝炎病毒耐药的常见变异.     

Genetic polymorphism analysis of the drug-metabolizing enzyme CYP1A2 in a Uyghur Chinese population: a pilot study

1.?CYP1A2 is a highly polymorphic gene and CYP1A2 enzyme results in broad inter-individual variability in response to certain pharmacotherapies, while little is known about the genetic variation of CYP1A2 in Uyghur Chinese population. The aim of the present study was to screen Uyghur volunteers for CYP1A2 genetic polymorphisms.

2.?We used DNA sequencing to investigate promoter, exons, introns, and 3’ UTR of the CYP1A2 gene in 96 unrelated healthy Uyghur individuals. We also used SIFT (Sorting Intolerant From Tolerant) and PolyPhen-2 (Polymorphism Phenotyping v2) to predict the protein function of the novel non-synonymous mutation in CYP1A2 coding regions.

3.?We identified 20 different CYP1A2 polymorphisms in the Uyghur Chinese population, including two novel variants (119A?>?G and 2410G?>?A). Variant 119A?>?G was predicted to be probably damaging on protein function by PolyPhen-2, by contrast, 2410G?>?A was identified as benign. The allele frequencies of CYP1A2*1A, *1B, *1F, *1G, *1J, *1M, *4, and *9 were 23.4%, 53.1%, 3.7%, 2.6%, 2.6%, 13.5%, 0.5%, and 0.5%, respectively. The frequency of *1F, a putative high inducibility allele, was higher in our sample population compared with that in the Caucasian population (p?<?0.05). The most common genotype combinations were *1A/*1B (46.9%) and *1B/*1M (27.1%).

4.?Our results provide basic information on CYP1A2 polymorphisms in Uyghur individuals and suggest that the enzymatic activities of CYP1A2 may differ among the diverse ethnic populations of the world.     

维、汉女性患者乳腺癌的分子分型及临床特征的比较分析

目的比较维吾尔族(维族)与汉族乳腺癌患者分子分型及临床特征。方法回顾性分析2004年1月-2007年12月新疆医科大学第一附属医院收治的60例维族与176例汉族乳腺癌患者相关资料。对两民族乳腺癌患者的分子分型、组织学分型及临床分期构成比进行比较分析。结果维、汉族乳腺癌患者的分子分型和组织学分型分布无明显差异(P均>0.05);汉族患者的临床Ⅰ期多于维族患者(P<0.05),而维族患者的Ⅳ期多于汉族患者(P<0.05),维、汉族乳腺癌患者0、Ⅱ和Ⅲ期无明显差异(Ρ均>0.05)。结论维、汉族女性乳腺癌患者的分子分型构成无差异,但其临床特征有差异。     

维药罗勒提取物中总黄酮含量及其抗氧化活性研究

目的探讨维药罗勒乙酸乙酯提取物和正丁醇提取物中总黄酮的含量及其体外抗氧化活性。方法采用紫外分光光度法,在357nm波长处测定维药罗勒乙酸乙酯提取物和正丁醇提取物中总黄酮的含量,并进行比较;检测2种提取物对1,1-二苯基-2-三硝基苯肼(DPPH·)的清除作用,评价其体外抗氧化活性。结果维药罗勒乙酸乙酯提取物中总黄酮含量为21.023 3μg/mL(RSD 0.19%,n=5),正丁醇提取物中总黄酮含量为4.782 9μg/mL(RSD 0.58%,n=5)。0.5mg/mL乙酸乙酯提取物和正丁醇提取物在体外对DPPH.的清除率分别为88.8%和72.2%。结论维药罗勒有效提取物中所含的黄酮可能是其发挥抗炎作用的有效化学成分之一,且其体外抗氧化活性也在一定程度上体现其体外抗炎活性。     

乌鲁木齐市维吾尔族孕妇营养知识、态度、行为调查及影响因素分析

目的了解乌鲁木齐市维吾尔族孕妇营养相关知识、态度、行为(knowledge attitude and practice,KAP)现状及其影响因素,为进一步改善孕妇营养状况提供科学依据。方法采用问卷调查方法对2011年5-11月在乌鲁木齐市妇幼保健院定期产前检查维吾尔族孕妇共600例(其中孕早、中、晚期的孕妇各200例)进行问卷调查,问卷内容包括营养知识、营养态度和饮食行为。结果乌鲁木齐市维吾尔族孕妇对营养知识缺乏全面深入地了解,营养态度普遍较好。97.0%以上的孕妇希望获得营养相关知识;有58.7%的孕妇主食类选择以精米精面为主,搭配吃粗杂粮;88.8%的孕妇每天吃3～4种蔬菜水果;70.3%孕妇平时饭菜口味一般;实际获取营养信息途径依次为杂志与报纸(69.8%)、医护人员(63.8%)、亲朋好友(56.3%)、电视与广播(52.0%)、网站(18.8%)、其他(9.8%);营养知识、态度、行为间呈明显正相关,孕妇的营养KAP水平与其文化程度、经济收入、职业呈正相关关系。结论乌鲁木齐维吾尔族孕妇人群的营养知识和饮食行为有待改善,应提高医护人员的营养知识技能水平,加强孕妇营养教育宣传,以促进母子健康。     

新疆维吾尔族妇女宫颈病变中DAPK及PTEN表达的研究

目的：探索DAPK及PTEN与维吾尔族女性宫颈癌及癌前病变的相关性。方法：取维族妇女正常及炎症的宫颈组织30例、宫颈上皮内瘤变Ⅰ级病变组织30例、宫颈上皮内瘤变Ⅱ／Ⅲ级病变组织30例、宫颈鳞状细胞癌组织30例,采用免疫组化检测DAPK及PTEN基因的在蛋白水平的表达。结果：DAPK及PTEN基因分别在蛋白水平的表达百分比在非癌组及鳞组中分别为93．3％、83．3％、60．0％、33．3：83．3％、73．3％、56．7％、23．3％,两者均显示其在宫颈癌组阳性百分表达率明显减少,与非癌组差异有显著性（P〈0．05）。结论：新疆维吾尔族妇女宫颈病变组织中DAPK及PTEN蛋白水平表达减少,其与新疆维族妇女宫颈病变呈负相关关系;两者可作为宫颈癌前病变的预警信号及宫颈癌的预后评估。     

新疆喀什伽师县农村维吾尔族男性HPV感染分布研究

目的探讨新疆喀什伽师县农村维吾尔族男性HPV感染的分布及亚型特点,为新疆维吾尔族妇女HPV干预及宫颈癌预防提供理论依据。方法采用凯普导流杂交芯片技术对新疆宫颈癌高发区新疆喀什伽师县克孜勒博依乡430例维吾尔族男性进行21种HPV亚型的检测。结果（1）430例男性HPV阳性率为26．28％,HPV阳性的男性中HPV16是最常见的类型,与其他类型比较阳性率差异有统计学意义（P〈0．05）。（2）HPV感染的类型主要为16、58、31型;多重感染者15例,占HPV感染者的13．27％（15／113）,多重感染以HPV16型合并感染为主,占86．67％（13／15）。结论新疆喀什伽师县克孜勒博依乡维吾尔族男性HPV阳性率较高,HPV感染的类型以HPV16为主,维吾尔族男性在维吾尔族宫颈癌发生中可能起一定作用。     

Genotype Distribution and Behavioral Risk Factor Analysis of Human Papillomavirus Infection in Uyghur Women

We investigated the distribution of HPV genotypes in Uyghur women in Xinjiang region of China, andbehavioral factors which could predispose them to HPV infection. In this cross-sectional study, women aged15-59 years were recruited by cluster sampling method in Yutian region in 2009. Liquid-based cytology sampleswere analyzed centrally for HPV genotype with a linear array detector. Univariate and multivariate logisticregression analyses were performed to identify behavioral risk factors for HPV infection. A total of 883 Uyghurwomen were recruited successfully. The prevalence of high-risk HPV and low-risk HPV were 7.25% and 1.58%,respectively; the most common HPVs were HPV16, 51, 31, 39 and 58. We found that age of first sexual intercoursewas a strong predictor for HPV infection (odds ratio of 4.01 for ≤ 15 years versus ≥25). Having sexual partners ≥3 was the second predictor (OR 3.69, 95% CI 2.24-7.16). Cleaning the vagina after sex showed an increased riskof HPV infection (OR 2.72; 95% CI 1.98-5.13); Using the condom showed protective factors for HPV infection(OR 0.36; 95%CI0.12-0.53). HPV16, 51, 31, 39 and 58 were the priority types; the age of first sexual intercoursewas identified as a major risk factor for HPV infection. Other notable risks were number of sexual partnersand cleaning the vagina after sex. Changing these behavioral risk factors could help to reduce the occurrenceof cervical cancer in this population.