白癜风与染色体畸变

对５８例白癜风患者同时进行染色体畸变和自由基清除系统水平的测定。结果表明，白癜风患者染色体断裂和结构重排现象显著增加，同时伴血浆中脂质过氧化物丙二醛的升高和红细胞中超氧化物岐化酶和铜蓝蛋白水平的降低。

非小细胞肺癌预后相关的多因素分析

目的:分析非小细胞肺癌的临床病理特点与预后的相关因素。方法:应用SPSS软件回顾分析80例获得随访资料的非小细胞肺癌患者的预后相关因素。结果:(1)TNM分期、Ki-67标记指数以及微血管密度是预后的独立危险因素。(2)耐药基因GST-π和病理类型是预后的相对危险因素。(3)患者年龄、性别、病程长短、肿瘤大小、部位、有无坏死与预后无显著相关。结论:TNM分期是非小细胞肺癌最重要的预后独立指标,其次为Ki-67标记指数、微血管密度,而肿瘤耐药基因GST-π和病理类型则是预后相对指标。

脱发合并维生素D依赖型佝偻病ⅡA型及无毛基因突变:一种临床、组织学和免疫组织化学的对比研究

Objective: To establish the unique and common clinical and microscopic characteristics of the alopecias associated with vitamin D-dependent rickets (VDDR) type IIA and with hairless gene mutations. Design: A comparative clinical, histologic, and immunohistochemical study of the alopecias in 6 patients withVDDRIIA and 4 patientswith atrichia with papular lesions (APL) and/or alopecia universalis congenita (AUC) (hereinafter “ APL/AUC” ). Main Outcome Measures: Clinical data were gathered from medical records, personal interviews, and physical examinations. Histologic and immunohistochemical studies were performed on 6 scalp punch biopsy specimens from each of the 2 studied groups. Results: The alopecias in VDDR IIA and APL/AUC showed similar clinical, histologic, and immunohistochemical features. The clinical presentation of the VDDR alopecia resembled either the APL phenotype (ie, with papules and milia) or the AUC phenotype (without papules and milia). The main histologic findings included void infundibula; absence of the lower two thirds of the hair follicles, often replaced by vertically oriented irregular epithelial structures or epithelial cysts; irregular epithelial structures, often with small cysts in the middle and lower dermis; and small, medium, and large keratinizing cysts at all levels of the dermis. The larger epithelial cysts in the upper dermis stained positively for cytokeratin (CK) 10, which suggests an infundibular derivation, whereas the remaining irregular epithelial structures and cysts in themiddle and lower dermis stained positivelymost frequently forCK17, CK19, andCD34,which suggests an outer root sheath derivation. Conclusions: The alopecias associated with VDDR IIA and with hairless gene mutations show striking clinical and microscopic similarities. Disintegration of the lower two thirds of the hair follicles seems to be the underlying defect, and a common pathogenetic pathwaymight be involved.

全身性高血压和青光眼:共同的发病机制及并发现象

Aims: To determine whether systemic hypertension and glaucoma might coexist mo re often than expected, with possible implications for treatment. Methods: Case -control study using general practitioner database of patients with glaucoma ma tched with controls for age and sex. Results: Hypertension was significantly mor e common in the 27 080 patients with glaucoma (odds ratio 1.29, 95%confidence i ntervals 1.23 to 1.36, p< 0.001) than in controls. Treatment by oral βblockade appeared to protect from risk (odds ratio 0.77, 95%CI 0.73 to 0.83, p < 0.0001) , but oral calcium channel antagonists or angiotensin converting enzyme (ACE) in hibitors did not (odds ratios 1.34, 1.24 to 1.44 and 1.16 1.09-1.24, respective ly, p < 0.0001 in each case). Oral corticosteroid treatment was associated with enhanced risk (odds ratio 1.78, 1.61 to 1.96). Conclusion: Common pathogenetic m echanisms in ciliary and renal tubular epithelia may explain coincidence of glau coma and systemic hypertension. The choice of cardiovascular treatment, could su bstantially influence glaucoma incidence, with βblockade protecting and ACE inh ibitors or calcium channel blockers not affecting underlying risk.

Novel mechanisms in functional dyspepsia

Functional dyspepsia （FD） is a highly prevalent but heterogeneous disorder in which multiple pathogenetic mechanisms are involved. Although there are many studies that have investigated various pathophysiologic mechanisms, the underlying casual pathways associated with FD remain obscure. The currently proposed pathophysiologic mechanisms associated with FD include genetic susceptibility, delayed as well as accelerated gastric emptying, visceral hypersensitivity to acid or mechanical distention, impaired gastric accommodation, abnormal fundic phasic contractions, abnormal antroduodenal motility, acute and chronic infections, and psychosocial comorbidity. A greater understanding of the abnormalities underlying FD may lead to improved management. The aim of this editorial is to provide a critical overview of current pathophysiologic concepts in functional dyspepsia.

Acute hepatitis C in a chronically HIV-infected patient:Evolution of different viral genomic regions

AIM: To analyze the molecular evolution of different viral genomic regions of HCV in an acute HCV infected patient chronically infected with HIV through a 42-month follow-up.METHODS: Serum samples of a chronically HIV infected patient that seroconverted to anti HCV antibodies were sequenced, from the event of superinfection through a period of 17 months and in a late sample (42nd month). Hypervariable genomic regions of HIV (V3 loop of the gp120) and HCV (HVR-1 on the E2 glycoprotein gene) were studied. In order to analyze genomic regions involved in different biological functions and with the cellular immune response, HCV core and NS5A were also chosen to be sequenced. Amplification of the different regions was done by RT-PCR and directly sequenced. Confirmation of sequences was done on reamplified material. Nucleotide sequences of the different time points were aligned with CLUSTAL W 1.5, and the corresponding amino acid ones were deduced.RESULTS: Hypervariable genomic regions of both viruses (HVR1 and gp120 V3 loop) presented several nonsynonymous changes but, while in the gp120 V3 loop mutations were detected in the sample obtained right after HCV superinfection and maintained throughout, they occurred following a sequential and cumulative pattern in the HVR1. In the NS5A region of HCV, two amino acid changes were detected during the follow-up period, whereas the core region presented several amino acid replacements, once the HCV chronic infection had been established.CONCLUSION: During the HIV-HCV superinfection, each genomic region analyzed shows a different evolutionary pattem.Most of the nucleotide substitutions observed are nonsynonymous and clustered in previously described epitopes,thus suggesting an immune-driven evolutionary process.

Genetic instability of BRCA1 gene at locus D17S855 is related to clinicopathological behaviors of gastric cancer from Chinese population

AIM： To investigate genetic instability of gene BRCA1 at locus D17S855, and their relationship with clinicopathological characteristics of gastric cancer in Chinese population. METHODS： Microsatellite instability （MSI） and loss of heterozygosity （LOH） of gene BRCA1 at locus D17S855 were compared between 37 samples of gastric cancer and corresponding non-cancerous gastric tissue. RESULTS： MSI at locus D17S855 was positive in 7 of 37 samples of gastric cancer （18.95%）. MSI had a close relationship with TNM staging but no relation with lymph node metastasis, histological type or tumor differentiation. MSI positive frequency in TNM Ⅰ ＋ Ⅱ （31.58%, 6/19） was much higher than that in TNM Ⅲ＋ Ⅳ （5.56%, 1/18）, （P 〈 0.05）. LOH positive rate was 18.92% （7/37）. LOH had no relationship to histological type, tumor differentiation or lymph node metastasis, but LOH positive rate in TNM Ⅲ＋ Ⅳ was 33.33% （6/18）, much higher than that in TNM Ⅰ ＋ Ⅱ （ 5.26%, 1/19）, （P 〈 0.05）. BRCA1 protein was expressed in 14 of 37 samples of gastric cancer. The positive rates of BRCA1 protein in TNM Ⅰ ＋ Ⅱ and TNM Ⅲ＋ Ⅳ were 57.89% and 16.67%, respectively, （P 〈 0.05）. The positive rate of BRCA1 protein was 77.78% in high differentiation samples, 30.77% in middle differentiation and 12.50% in lower differentiation samples, （P 〈 0.05）. CONCLUSION： MSI of BRCA1 gene could be used as a molecular marker in early phases of sporadic gastric cancer in Chinese population. LOH occurs at later period of gastric cancer, therefore, it could be used as prognostic factor.

Etiopathogenesis of primary sclerosing cholangitis

Primary sclerosing cholangitis(PSC) is a chronic cholestatic liver disease of unknown etiology but lymphocytic portal tract infiltration is suggestive of an immune-mediated basis for this disease.Associations with inflammatory bowel disease(IBD) especially ulcerative colitis(UC),and with particular autoimmune diseases,as well as the genetic associations further suggest PSC may be an immune-mediated disease.The immunogenetics of PSC have been the subject of active research and several HLA and non-HLA associated genes have been implicated in the development of the disease.Lymphocytes derived from the inflamed gut may enter the liver via the enterohepatic circulation to cause hepatic disease.PSC may be triggered in genetically susceptible individuals by infections or toxins entering the portal circulation through a permeable colon and hence evoking an abnormal immune response.

Contribution of genetics to a new vision in the understanding of inflammatory bowel disease

Inflammatory bowel diseases （IBD）, such as Crohn＇s disease （CD） and ulcerative colitis （UC）, are chronic inflammatory autoimmune conditions of the gastrointestinal tract. Other organs, such as the eyes, skin and articulations, are often affected and IBD may be accompanied by other diseases of autoimmune origin. There is no single etiological factor responsible for the onset of IBD. Recent advances in genetics and in the molecular mechanisms of the proteins coded by these genes have given rise to a new vision in understanding these complex diseases. Activation of specific genes that affect antigen presentation and the handling of cells by innate immunity may lead to autoimmunity with the consequent activation of the major histocompatibility complex （MHC） and multiple cytokines involved in the regulation of acquired immunity. In this review IBD is described as a constellation of diseases that can best be classified as barrier diseases. This vision, developed by Kiel in Germany, includes the idea that changes in our environment due to the westernization of civilization have not been met with adaptation of the innate immune system, and this has given rise to autoimmune diseases. These diseases affect 1-5 of 1000 individuals and represent a major burden on the national health systems of many countries on different continents. On a world scale, a major challenge is to generate interventions to prevent the development of these diseases in Asia, Latin America and Africa.

Testicular Synovial Sarcoma:A Case Report

This paper reports a case of testicular synovial sarcoma with molecular genetic analysis. A 24-year-old male presented with painless scrotal mass. Ultrasonography showed a heterogeneous mass of 66 mm × 34 mm in size involving the inguinal region. Histological examination of a surgical biopsy showed a grade III monophasic growth pattern of spindle cell proliferation. Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen. Cytogenetic analysis showed the presence of CYT-SSX1 mutation, and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm. The patient had an extended left orchidectomy but was lost to follow-up for 1 year. A local recurrent scrotal mass of 32 mm ~ 25 ram, multiple inguinal lymph nodes, and increased pleural nodules, which were confirmed by histological examination, were treated with three cycles of adriamycine and ifosfamide chemotherapy, surgical resection, and radiotherapy with complete response. After 3 months, the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxeL The patient had dyspnea at the time of this writing and chest pain, and is under third-line chemotherapy based on Deticene after 30 months of following up. This patient died on November 16, 2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis. Although our patient has shown numerous factors of bad prognosis, he has had a relatively long survival time.

幽门螺杆菌与胃癌遗传性相关性研究

目的分析人19染色体短臂上的微卫星不稳定性（MSI）和杂合性丢失（LOH）与幽门螺杆菌（Hp）感染之间的关系，探讨幽门螺杆菌遗传毒性在胃癌中的作用。方法PCR检测Hp在胃癌中的感染情况，进一步分析Hp感染患者中Hp基因CagA的表达缺失情况，探讨Hp感染及CagA基因表达与19p微卫星之间的关系。结果在79例胃癌患者中，86.1%（68/79）患者为Hp阳性，CagA基因阳性率为83.82%（57/68）。而CagA基因的表达与19p遗传不稳定性相关，这种杂合性丢失与原发性胃癌的临床分期及远处转移相关，且随着恶性程度增加LOH频率也增加（P〈0.01）。结论Hp感染与19p高频率的LOH相关，可能通过19p区域的肿瘤抑癌基因参与胃癌的发生和进展。

12号染色体短臂异常的髓系肿瘤12例分析

目的 探讨12号染色体短臂异常的髓系肿瘤是否为一个独立的临床病理遗传学病种。方法 回顾性分析2 6 2例骨髓增生异常综合征(myelodysplastic syndrome,MDS)和6 38例急性髓系白血病(acute myeloid leukemia,AML)患者的细胞遗传学和临床资料。结果 12号染色体短臂异常的发生率MDS为1.6 % ,AML为1.3% ,主要为缺失(10 /12例)。这些患者并无一致性的独特细胞/组织形态学、免疫学和临床特征。结论 12号染色体短臂异常伴髓系肿瘤不是一个独立临床病理遗传学病种。

EGFL7基因沉默对裸鼠胃癌血管生成的影响

目的 探讨类表皮生长因子域7（EGFL7）基因沉默对胃癌裸鼠模型瘤内血管生成的影响.方法 构建EGFL7短发夹状RNA表达质粒并转染SGC-7901细胞（psh EGFL7组）,以空质粒转染为对照组.观察两组皮下种植瘤生长曲线及体积.免疫组织化学法检测抗-CD34、血管内皮生长因子（VEGF）、血小板反应蛋白（TSP1）表达;RT-PCR检测MMP-2和TIMP2表达.结果 psh EGFL7组种植瘤体积为（1.86±0.65）cm^3,微血管密度（MVD）为20.84±6.38,分级为1～2级,对照组体积为（4.86±1.15）cm^3,MVD为39.48±9.01,分级为3～4级,两组种植瘤体积、MVD和分级的差异有统计学意义（P＜0.05）.EGFL7组TSP1蛋白阳性表达,而VEGF蛋白为弱阳性或阴性表达,MMP-2 mRNA表达下调,而TIMP2 mRNA表达上调,与对照组比较差异有统计学意义（P＜0.01）.结论 EGFL7基因沉默可降低胃癌种植瘤血管生成,与调节MMP-2/TIMP2表达,影响VEGF/TSP1平衡有关.

miR-199b抑制结直肠癌侵袭转移的研究

目的 探索miR-199b对结直肠癌侵袭转移的影响及可能机制.方法 利用Real-time Quantitative PCR（实时定量聚合酶链式反应）检测miR-199b在结直肠癌中的表达.慢病毒感染肠癌细胞系HCT-116获得miR-199b过表达稳转细胞系.Transwell实验检测过表达miR-199b对肠癌侵袭力的影响.生物信息学分析miR-199b的潜在靶基因,并利用荧光素酶实验与ELISA方法对靶基因进行验证.结果 miR-199b在结直肠癌中的表达低于癌旁组织.HCT-116过表达miR-199b后运动和侵袭能力显著减弱.当共转染miR-199b与VEGFA野生型（WT）3＇非翻译区（3＇UTR）时,荧光素酶活性减弱;当共转染VEGFA突变型（MT）3＇UTR时,荧光素酶活性无显著差别.ELISA实验显示过表达miR-199b能够下调VEGFA表达水平.结论 miR-199b作为新的一种结直肠癌抑癌microRNA,能够通过下调VEGFA抑制结直肠癌的侵袭转移.

5-氮杂-2′-脱氧胞苷对人胃癌BCG-823细胞系增殖及HOXA5基因表达的影响

目的观察不同浓度5-氮杂-2′-脱氧胞苷对人胃癌BCG-823细胞系增殖及对HOXA5基因表达的影响。方法用不同浓度的5-氮杂-2′-脱氧胞苷处理培养的胃癌BCG-823细胞株，然后用甲基化特异性PCR（MSP）法检测处理前后的胃癌BCG-823细胞株中HOXA5基因启动子甲基化的情况；噻唑蓝（MIT）比色法检测细胞生长抑制率；实时荧光定量逆转录-聚合酶链反应（QRT-PCR）法检测HOXA5基因mRNA表达水平；Western-blot法检测HOXA5蛋白的表达水平。结果（1）BCG-823细胞株中HOXA5基因启动子存在不同程度的甲基化，5-氮杂-2′-脱氧胞苷可降低这种基因启动子的甲基化率，且与其浓度有关（F=438．307，P〈0．01）。（2）5．氮杂-2′-脱氧胞苷处理的细胞组中，HOXA5基因mRNA和蛋白表达量较对照组均有明显增加，差异有统计学意义（P〈0．05）。（3）5-氮杂-2′-脱氧胞苷作用BCG．823细胞后，细胞增殖明显受到抑制，差异有统计学意义（P〈0．05）。结论胃癌BCG-823细胞中HOXA5基因启动子可能存在高甲基化；5-氮杂-2′-脱氧胞苷能抑制BCG-823细胞体外增殖，其可能通过诱导HOXA5基因表达增加而发挥抗癌作用，有望为胃癌的综合治疗提供新线索。

Q:献血到底好不好,为什么?

（读者：韩康杰）A：血液由血浆和血细胞构成。血浆是血液的液体部分,呈淡黄色,约占血液总体积的55%,除了运载血细胞外,血浆还负责运输各种物质,如维持人体生命活动所需的各种营养成分、细胞排出的代谢废物等。血细胞包括红细胞、白细胞和血小板。红细胞呈两面凹的圆盘状,约占血液总体积的44%,具有运送氧气的功能。由于成熟的红细胞没有细胞核,因此它在血液中只能存活120天左右。白细胞是人体健康的＂安全卫士＂,

DNA甲基转移酶1和张力蛋白肿瘤抑癌基因在胃癌中的表达及其临床意义

目的探讨DNA甲基转移酶1（DNMT1）和张力蛋白肿瘤抑癌基因（PTEN）在胃癌中的表达及其临床病理意义。方法应用免疫组化检测85例胃癌组织、81例胃癌癌旁组织及98例正常胃组织中DNMT1和PTEN的表达情况，分析两者与临床病理特征之间的关系。结果DNMTl在胃癌组织中的阳性表达率（85．88％）明显高于癌旁组织（72．84％）和正常胃组织（72．84％），差异有统计学意义（x2=4．33，P〈0．05；x2=99．23，P〈0．01）；PTEN在胃癌组织中的阳性表达率（21．18％）明显低于癌旁组织（51．85％）和正常胃组织（90．82％），差异有统计学意义（X2=16．91，P〈0．01；x2=90．91，P〈0．01）。DNMTl和PTEN与胃癌的病理分化类型、肿瘤大小及胃液的幽门螺杆菌（Hp）阳性有显著的相关性（P〈0．05）。结论DNMTl和PTEN的异常表达与胃癌的发生发展有紧密的关系。

IgA肾病发病机制的研究新进展

IgA肾病（（IgA nephropathy，IgAN）是全球最常见的一种导致慢性肾脏损伤的原发性肾小球肾炎。IgAN是一种由免疫、遗传、环境等多因素共同作用而形成的疾病，通过对IgAN发病机制的研究进而为该疾病的治疗提供新的线索。

Bcl-2、Ki-67蛋白表达对诊断评估腺性膀胱炎急性发作的临床意义

目的探讨细胞凋亡调控因子-2(Bcl-2)、细胞增殖因子-67(Ki-67)蛋白表达与腺性膀胱炎急性发作的关系,讨论其在诊断中的灵敏度与准确性,为疾病早期预测和早期干预提供临床依据。方法选取2015年3月至2017年3月本院确诊的100例腺性膀胱炎急性发作患者标本(病灶组)和60例体检正常的健康对象的膀胱上皮黏膜标本(对照组)。免疫组化法检测病灶组和对照组标本中的Bcl-2、Ki-67蛋白表达情况并分析其对诊断评估腺性膀胱炎急性发作的灵敏度、准确性。结果病灶组、对照组标本中的Bcl-2、Ki-67蛋白表达情况比较差异均有统计学意义(P <0. 05),Bcl-2、Ki-67均可预测腺性膀胱炎急性发作的发生,两者AUC值比较差异均无统计学意义(P> 0. 05),但两者联合判断腺性膀胱炎急性发作效能明显高于单一指标(P <0. 05)。结论 Bcl-2、Ki-67蛋白在腺性膀胱炎急性发作患者中异常表达,其水平变化对诊断评估腺性膀胱炎急性发作灵敏度、准确性有重要的意义。