非色素性小汗腺汗孔瘤的皮肤镜及组织病理特征分析

目的 评价非色素性小汗腺汗孔瘤的皮肤镜特征以及组织病理学特征。方法 回顾性分析17例组织病理诊断明确的非色素性小汗腺汗孔瘤患者临床资料,分析其皮肤镜及组织病理特征。结果 非色素性小汗腺汗孔瘤的皮肤镜下特征包括血管结构、红色球状结构及白色无结构区。11例（64.7%）患者可见血管结构,2例（11.8%）患者表现为多形态血管模式,9例（52.9%）患者表现为单形态血管模式。16例（94.1%）患者可见红色球状结构;17例（100%）患者均可见白色无结构区;7例（41.2%）表面有糜烂,17例（100%）可见鳞屑。结论 血管结构、红色球状结构及白色无结构区是非色素性小汗腺汗孔瘤的常见皮肤镜特征,有助于提高临床诊断率。     

川芎防治糖尿病肾病配伍探析

目的:探析川芎防治糖尿病肾病的临床配伍应用情况.方法:通过查阅专著、检索文献对川芎防治糖尿病肾病配伍进行分析、整理、归纳.结果:研究发现在糖尿病肾病治疗中,黄芪、山药、当归、生地黄、赤芍、红花、丹参等是常与川芎配伍的中药.结论:川芎常与补虚、清热、活血类药物配伍,有效发挥其对糖尿病肾病的防治作用.     

电离辐射水平与生物效应

本文介绍了人类所受的不同辐射源电离辐射的年平均剂量及范围,包括高天然本底辐射、人工辐射中的医疗照射、辐射事故照射以及核辐射的发生及其后果。重点阐述了目前辐射生物效应研究中的几个热点问题：如电离辐射非靶效应,细胞爆炸引发＂瞬间癌症＂以及辐射诱发白内障阈剂量判断的研究进展。     

X射线对人肺癌A549细胞Bmi-1表达的影响

目的：研究X射线照射对人肺癌A549细胞株中Bmi-1 mRNA和蛋白表达的影响。方法：用不同剂量（0、2、4、6Gy）的X射线照射体外培养的人肺癌A549细胞株,分别采用实时荧光定量PCR和Western blot技术检测照射0、6、12、24、48和72 h后Bmi-1 mRNA和蛋白的表达水平。结果：与对照组比较,2、4、6 Gy X射线照射A549细胞后48 h内Bmi-1 mRNA表达升高,差异均有统计学意义（P〈0.05）;（2 Gy 48 h组除外）,2 Gy组照射后6 h、4 Gy组12 h、6 Gy组24 h升高最显著（P〈0.05）。照射后48 h内蛋白表达升高（4Gy除外）,48 h后蛋白表达逐渐下降,至72 h时接近未照射组水平。各时间点（除4 Gy 48 h和72 h外）的蛋白表达与对照组相比差异均有统计学意义（P〈0.05）。结论：在本实验条件下,2～6 Gy剂量X射线照射48 h内可使人肺癌A549细胞Bmi-1表达升高,之后表达逐渐降低。     

寻常型银屑病患者外周血单个核细胞TLR4和NF—kBp65的表达

检测寻常型银屑病患者外周血单个核细胞T0Ⅱ样受体4（TLR4）和核转录因子xrap65（NF—xBp65）的表达。采用直接免疫荧光法定位并分别用流式细胞术及免疫细胞化学法检测22例寻常型银屑病外周血单个核细胞TLR4、NF—kBp65的表达，15名正常人做正常对照。结果：寻常型银屑病外周血单个核细胞TLR4的表达高于正常对照组（P〈0．05），而进行期寻常型银屑病外周血单个核细胞TLR4表达明显高于稳定期寻常型银屑病患者的表达（P〈0．05）。寻常型银屑病组和正常对照组，进行期寻常型银屑病组和稳定期寻常型银屑病组活化NF-kBp65的表达，各组之间差异无显著性（P〉0．05）。     

Usher综合征的分子遗传学及治疗

Usher综合征又称遗传性视网膜色素变性一感音神经性耳聋综合征,主要表现为不同程度的视网膜色素变性（retinitispigmentosa,RP）和感音神经性耳聋（sensorineuralhearingloss,SNHL）,伴或不伴前庭功能障碍。RP以夜盲为首发症状,视野向心性缩小进展为管状视,最终中心视力受损。该综合征在1858年由德国眼科学家VonGraefe_J0首先报道,1914年英国眼科学家Usher皿’首次提出该病与遗传因素有关。     

常染色体显性遗传核性白内障合并小角膜的CRYAA基因突变研究

Objective To identify the gene mutation in a four-generation Chinese family with autosomal dominant congenital cataract associated with microcornea. Methods Experimental research.Twelve members in this family (including six affected and six unaffected individuals) were enrolled into this study. They underwent full ophthalmological and clinical examinations to rule out any concomitant disorders.Blood samples were collected and genomic DNA was extracted. Microsatellite markers near the reported loci,which are associated with congenital cataract and microcornea were selected and amplified from DNA samples using polymerase chain reaction. Linkage analysis was performed. The exons and exon/intron junction of candidate gene in the related chromosome were sequenced. The product of the first exon was digested by ApaL Ⅰ restriction enzyme to certify the mutation. Results The phenotype studied in this family was nuclear cataract accompanied with microcornea. At markers D21S1885 and D21S1890 near the locus 21q22. 3, the affected members had the same allele, but the unaffected did not. The Lod scores were 2. 11in both markers, indicating that this locus were linked to the congenital cataract in this family. DNA sequencing of candidate gene CRYAA showed a heterozygous mutation c. 34C ＞ T in exon 1, which led to condon 12 in peptide chain encoding arginine substituted by cysteine. ApaL Ⅰ enzyme digestion certified that all of the affected members had the same mutation c. 34C ＞T, but the unaffected and normal individuals did not. Conclusion Mutation (p. R12C) of CRYAA is the genetic change that causes the occurrence of congenital cataract with microcornea in this family.     

皮肤好，可能只是比你会洗脸

一个人美不美,首先体现在脸上。可一些人即便用遍各种化妆品,脸部皮肤问题依旧层出不穷:爆痘、肌肤暗黄、粗糙、毛孔粗大和黑头……其实,很多皮肤问题都源于清洁不当,那些看起来皮肤好的人,可能只是比你更会洗脸!正确洗脸三步走涂抹洁面乳:乳液状洁面乳,要按照额部、两颊、鼻头、下颌五点法放置,然后均匀涂抹于整个面部;膏状洁面乳、啫哩状洁面乳,应在手掌心打出丰富泡沫。     

常染色体显性遗传性白内障一家系致病基因的研究

目的:对一个4代常染色体显性遗传先天性白内障家系进行致病基因研究。方法:对15例家系成员(8例患者,7例非患者)进行眼部检查,采集静脉血,提取基因组DNA,选取已报道的与常染色体显性遗传性白内障相关的19个位点附近的微卫星标记,PCR扩增后进行基因型分析,用连锁分析进行定位;对提示连锁的标记计算Lod值,并构建单体型;对定位区域内已知候选基因测序。结果:该家系患者表型为绕核性白内障;患者在17q11-12有共享基因型,该位点微卫星标记与致病基因间的两点连锁最大Lod值为2.71,证实该位点与该家系的致病基因连锁;测序未发现CRYBA1/BA3突变。结论:该家系的致病突变不是由于CRYBA1/A3外显子和调控区突变,可能是未被发现基因突变或机制参与该家系的发病。     

常染色体显性遗传核性白内障合并小角膜的CRYAA基因突变研究

Objective To identify the gene mutation in a four-generation Chinese family with autosomal dominant congenital cataract associated with microcornea. Methods Experimental research.Twelve members in this family (including six affected and six unaffected individuals) were enrolled into this study. They underwent full ophthalmological and clinical examinations to rule out any concomitant disorders.Blood samples were collected and genomic DNA was extracted. Microsatellite markers near the reported loci,which are associated with congenital cataract and microcornea were selected and amplified from DNA samples using polymerase chain reaction. Linkage analysis was performed. The exons and exon/intron junction of candidate gene in the related chromosome were sequenced. The product of the first exon was digested by ApaL Ⅰ restriction enzyme to certify the mutation. Results The phenotype studied in this family was nuclear cataract accompanied with microcornea. At markers D21S1885 and D21S1890 near the locus 21q22. 3, the affected members had the same allele, but the unaffected did not. The Lod scores were 2. 11in both markers, indicating that this locus were linked to the congenital cataract in this family. DNA sequencing of candidate gene CRYAA showed a heterozygous mutation c. 34C ＞ T in exon 1, which led to condon 12 in peptide chain encoding arginine substituted by cysteine. ApaL Ⅰ enzyme digestion certified that all of the affected members had the same mutation c. 34C ＞T, but the unaffected and normal individuals did not. Conclusion Mutation (p. R12C) of CRYAA is the genetic change that causes the occurrence of congenital cataract with microcornea in this family.