Genomic instability occurs in colorectal carcinomas but not in adenomas

Genomic instability, as demonstrated by the presence of additional alleles at short tandemly repeated (STR) loci, has recently been observed in colorectal tumours from individuals with hereditary non-polyposis colorectal cancer (HNPCC), and in some sporadic tumours. These neoplasms have been called replication error positive (RER⁺). In this study, we confirm the presence of genomic instability in a proportion of unselected colorectal carcinomas but find no evidence of instability in adenomas. We further report replication errors in a tetranucleotide sequence, and in STRs within two tumour suppressor genes. 108 colorectal adenocarcinomas and 46 adenomas were analysed for the presence of variant bands at 4–15 microsatellite markers. Seven (6.5%) of carcinomas were RER⁺, four of which originated from the proximal colon. Analysis of the adenomas and of matched adenoma-carcinoma and carcinoma-metastatic samples from four patients suggests that the replication errors may occur during the development of carcinomas but are rare in adenomas. © 1993 Wiley-Liss, Inc.     

小发卡RNA抗呼吸道合胞病毒效应的研究

目的 为从基因水平抑制呼吸道合胞病毒（respiratory syncytial virus，RSV）的复制，针对RSV的M2-2基因构建小发卡结构状RNA（short hairpin RNA，shRNA）重组质粒，在细胞水平观察shRNA对RSV复制的影响。方法 将成功构建的针对RSV M2-2基因的重组质粒pshRNA8260转染HEp-2细胞，利用光镜观察pshRNA8260对RSV致HEp-2细胞病变效应（cytopathogenic effect，CPE）的影响并计算CPE抑制率，空斑形成实验检测RSV滴度变化。结果 成功构建了针对人RSV M2-2基因mRNA的pshRNA8260重组质粒，研究发现pshRNA8260能明显改善RSV所致的病变效应，降低RSV在细胞内复制的病毒滴度。结论 针对RSV M2-2基因的pshRNA82（g）重组质粒具有明显的特异性抗RSV效应的作用。     

Short sleep duration at night in 2.5-year-old children is associated with childhood obesity at age 5.5 years: The Japanese children cohort study

BackgroundObesity in children contributes to higher risks of various chronic diseases in adulthood and the prevalence has increased worldwide including Japan.ObjectivesThis study aims to examine the association between sleep duration at night in children aged 2.5 years and the subsequent risk of obesity at age 5.5 years.MethodsThis study is embedded in the Longitudinal Survey on Babies Born in the 21st Century, which recruited families who had a child born in Japan in 2001. The multivariable logistic regression models were applied to calculate odds ratios (OR) and 95 % confidence intervals (CI) of childhood obesity at 5.5 years, defined as percentage of overweight (POW) ≥ 20 % and body mass index (BMI) ≥ 95th percentile of this study population according to sleep duration at night collected at 2.5 years child age.ResultsAmong 25,378 children, 2.6 % and 3.7 % were obese at age 5.5 years defined by POW and BMI respectively. Compared with night sleep duration > 11 h/d, shorter sleep durations in 2.5 years-old children were associated with higher risk of obesity at 5.5 years; the multivariable ORs (95 %CI) were 1.05 (0.81–1.35), 1.23 (0.93–1.62) and 1.54 (1.04–2.31) for sleep duration 10, 9 and ≤ 8 h/d, respectively; p-trend = 0.03. The observed association differed according to the children (child’s sex, napping habits, and children frequently play at park), and family characteristics (mother’s age at delivery and mother’s level of education).ConclusionShort night sleep duration among girls aged 2.5 years was associated with risk of obesity at age 5.5 years, suggesting the importance of sufficient sleep duration at night for the prevention of obesity.     

A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a disorder of structure and function of motor ciliary and dyskinetic activity of ciliary in the fallopian tubes of affected women and could lead to infertility in some cases. In vitro fertilisation (IVF) is a choice of treatment in infertile women with PCD, which could conquer the tubal dysfunction. In this case study, we report a PCD affected woman with infertility who was treated by IVF and pregnancy was achieved but it failed due to the spontaneous abortion. We also performed whole-exome sequencing for this case and her PCD-affected sister, which did not reveal any genetic abnormality related to the PCD or infertility.     

肠-菌-肝轴及其在肠衰竭相关性肝损害发生发展中的作用

由于长期的肠道摄入不足,肠衰竭患者不得不依赖肠外营养(PN)来维持能量和正常的生理需求。然而PN在提供能量及营养物质的同时,也会引起肝脏损害。此外,由于肠道结构和内环境发生改变,IF患者往往伴随着肠道菌群失调及小肠细菌过度生长,过度生长的细菌代谢产生的毒性介质可诱导肠道炎性反应和胆汁酸代谢紊乱,最终导致肠黏膜屏障功能受损及肠衰竭相关性肝损害(IFALD)。自1998年Marshall首次提出肠-肝轴的概念以来,肠-肝轴紊乱在IFALD发生发展中的作用也备受关注。肠道-肝脏之间的"对话"是维持肝脏代谢和肠道内稳态平衡的关键,二者相互作用,互为因果。然而,作为一个"被遗忘的器官",肠道菌群在IFALD发病过程中的作用并没有得到很好的体现。因此,笔者首次提出肠-菌-肝轴这样一个全新的概念,试图强调肠道菌群是肠-肝轴中的重要一环,三者之间的相互作用在IF患者肠道和肝脏损害过程中扮演着重要的角色。对肠-菌-肝轴这一概念的理解和深入研究,将对理解IFALD的发病机制和改进防治措施具有重要意义。     

Ⅰ期双侧全髋关节置换治疗系统性红斑狼疮合并股骨头坏死的早中期疗效

目的分析Ⅰ期双侧全髋关节置换（THA）治疗系统性红斑狼疮（SLE）合并中晚期股骨头缺血性坏死（ANFH）的早中期疗效。方法中山大学附属第三医院骨科对17例SLE合并中晚期ANFH患者均行Ⅰ期双侧THA，按照ARCO分期分为ⅢB期7髋、ⅢC期12髋，Ⅳ期15髋，结合患者年龄与骨质条件选择股骨假体不同的固定方式。采用Harris评分结合SF-36评分方法进行疗效比较与随访，平均随访时间28个月。结果术后2例切口延迟愈合，1例假体脱位，1例大腿痛10月，1例急性肾衰，均经治疗后好转。6例经彩超发现无症状下肢深静脉血栓，无肺栓塞、假体深部感染发生，无肾上腺皮质危象表现，随访期间髋关节疼痛及活动度明显改善，无假体松动。Harris髋关节功能评分（平均91．6分）与术前（平均42．6分）相比差异有统计学意义（P〈0．01），SF-36评分（平均84．5分）与术前（平均51．4分）相比差异有统计学意义（P〈0．01）；不同ARCO分期病例术后Harris评分差异无统计学意义（P〉0．05）；不同假体固定方式术后Harris髋关节功能评分、SF-36评分均差异无统计学意义（P〉0．05）。结论Ⅰ期双侧人工髋关节置换术对SLE合并中晚期ANFH的早中期疗效良好，应严格掌握手术适应证和手术时机，加强围手术期处理，选择合适的假体固定方式。     

短肠综合征的康复治疗

目的总结27例短肠综合征病人康复治疗的经验,介绍短肠康复治疗的具体方法,探讨改善短肠病人营养状况、促进肠功能代偿的措施。方法短肠康复治疗包括营养支持、应用谷氨酰胺和生长激素促进肠粘膜生长、富含膳食纤维的短肠康复饮食、减轻短肠临床症状以及预防和治疗短肠并发症等措施。1997年1月至2000年7月间共27例短肠患者接受了29次康复治疗,患者平均年龄38.5岁±19.3岁。剩余小肠长度范围15～80cm,平均46.8cm±23.4cm,15例有回盲瓣。从肠切除至接受康复治疗的平均时间为86d±105d。结果治疗后病人的营养状况明显改善,肠道吸收功能有所增强。随访超过2年者8例,4例完全脱离肠外营养,随访时间超过1年者13例,有10例完全脱离肠外营养。结论短肠康复治疗能够有效地改善短肠病人的营养状况、并能促进肠功能代偿,治疗效果与残留小肠长度、治疗开始的时间和病人年龄有关,及早进行康复治疗能够促进肠功能代偿,减少病人对肠外营养的依赖。     

宫腔内人工授精中子宫内膜超声类型及厚度与妊娠的关系

目的：分析使用宫腔内人工授精患者中子宫内膜的类型及厚度与妊娠的关系。方法：分析189个治疗周期中具有三线征内膜,均质征内膜以及子宫内膜厚度＜8mm,≥8mm的妊娠结果。结果：189个治疗周期中,三线征子宫内膜为144个周期（76．2％）,妊娠率29．9％;均质征子宫内膜45个周期（23．8％）,妊娠率为26．7％。二者妊娠率差异无显著性（P＝0．680）。子宫内膜厚度≥8mm时,妊娠率明显提高（P＜0．01）。结论：宫腔内人工授精中,子宫内膜厚度＜8mm时,妊娠率明显降低。     

血清锌、钙、锰含量对矮小儿童身高、骨龄的影响

目的:探讨血清锌、钙、锰含量对儿童身高、骨龄的影响。方法:用高频等离子体发射光谱法测定30例矮小儿童血清锌、钙、锰含量,同30例正常健康儿童比较。并进行锌、钙、锰与身高、骨龄相关分析。结果:矮小儿童血清锌、钙、锰含量明显低于对照组。相关分析发现,血清锌、钙、锰与身高呈明显正相关(P<0.01),血清锌、锰与骨龄呈明显正相关(P<0.01),而血清钙与骨龄无相关性(P>0.05)。结论:血清锌、钙、锰与儿童身高增长,骨龄成熟密切相关。     

红外线短波紫外线照射对感染伤口愈合的影响

目的：探讨红外线、短波紫外线照射对感染性伤口愈合的影响。方法：用随机方法将７２例感染伤口病人分为Ａ、Ｂ两组,每组３６例,Ａ为治疗组：在消炎、伤口换药基础上加用红外线、短波紫外线照射伤口７天,Ｂ为对照组：单纯消炎、伤口换药。结果：Ａ组治愈２８例,显效８例,有效率１００％。Ｂ组治愈１４例,显效１２例,无效１０例,有效率７２％,统计学处理Ｘ＾２＝１５．４７Ｐ〈０．０１,两组有显著差异。结论：红外线、短波