超声乳化联合小切口硬核白内障摘除的临床观察

目的 探讨贫困地区超声乳化联合小切口硬核白内障摘除联合PMMA人工晶状体植入手术的疗效。方法 对336例(336只眼)Ⅳ级以上核白内障行超声乳化联合小切口晶状体摘除联合PMMA人工晶状体植入术。结果 术后1天、3天视力在0．5以上分别为240只眼(71．4％)、265只眼(78．8％)。术中主要并发症为后囊破裂。术后主要并发症为角膜水肿、眼压升高。结论 超声乳化联合小切口晶状体摘除治疗Ⅳ级以上核白内障切口小，术后反应轻，散光小，并且视力恢复快，费用低。手术技巧的提高可避免或减少术中术后并发症。     

胱硫醚β-合成酶基因突变与青年缺血性脑血管疾病的相关性

背景：高半胱氩酸与脑梗死发病相关，胱硫醚β-合酶是同型半胱氨酸代谢关键酶，其基因突变是不是脑梗死的潜在的遗传候选因素尚不清楚。 目的：从遗传基因变异的角度观察胱硫醚β-合酶基因T833C位点、G919位点碱基突变与青年缺血性脑卒中发病之间的关系。 设计：病例-对照分析。 单位：吉林大学中日联谊医院神经内科。 对象：病例组：100例。为2003—04／2004—12吉林大学中日联谊医院住院患者。均是发病2d内住院、年龄≤45岁的青年脑梗死患者。对照组：100例，为同期来院体检的正常青年人。 方法：以高效液相色谱法测定受试者空腹及负荷后血浆同型半胱氨酸水平，采用聚合酶链-限制性内切酶片段长度多态性分析和扩增阻滞突变体系法，对所有受试者的胱硫醚β-合酶基因T833C位点，G919A位点进行检测。 结果：200例均进入结果分析。①胱硫醚β-合酶基因T833C位点．G919A位点基因检测病例组和对照组基因型分布、纯合子频率和等位基因频率差异均没有统计学意义（P〉0．05）。（参血浆同型半胱氨酸浓度：G919A，T833C各基因型间有显著差异（P〈0．001）；二个位点突变结果LSD—t检验显示：纯合子与杂合子，纯合子与野生型，C杂合子与野生型间差异均有显著性意义（P〈0．05）。 结论：①胱硫醚β-合酶基因T833C，G919A位点突变均可导致血浆同型半胱氨酸浓度明显增高。②胱硫醚β-合酶基因G919A和T833C基因突变与青年脑血管病发病无直接相关性。     

健康青年人的膝关节软骨厚度3.0T MRI的定量研究

目的:探讨3.0T MRI精确测量健康青年膝关节软骨厚度为骨关节炎的定量诊断和关节置换精准截骨提供可靠的解剖参数。方法:自2013年1月至2013年12月于吉林省长春地区招募30名健康青年志愿者,男14名,女16名,年龄22~33(25.8±2.4)岁。对每名志愿者的双膝关节进行3.0 T MRI扫描,对股骨外侧髁(lateralis femoris condylus,LFC)、股骨内侧髁(medialis femorisc ondylus,MFC)、胫骨外侧平台(lateral tibial plateau,LTP)、胫骨内侧平台(medial tibial plateau,MTP)进行软骨厚度测量。结果:在LFC、MFC、LTP、MTP 4个区域中,无论青年男性或女性,左、右侧膝关节软骨厚度比较,差异均无统计学意义(P>0.05);健康青年男性与女性之间膝关节软骨厚度比较,差异有统计学意义(P<0.05)。在同一性别组,LFC软骨厚度中间较薄,前、后方较厚;MFC软骨厚度前方最薄,从前方向后方逐渐增厚;LTP软骨厚度中间最厚,后方次之,前方最薄;MTP软骨厚度前方最薄,中间、后方相对均匀且均较前方厚。结论:在我国22~33岁正常健康青年人中,性别差异可能是膝关节各个区域软骨厚度差异的重要因素。无论男性或女性健康青年人,整个膝关节软骨厚度分布不均匀,但左、右侧膝关节相同区域软骨厚度无明显差异。     

Applying massively parallel sequencing to paternity testing on the Ion Torrent Personal Genome Machine

Massively parallel sequencing (MPS) is a promising supplementary method for forensic genetics and has gradually been applied to forensic casework. In this study, we applied MPS to forensic casework on an Ion Torrent Personal Genome Machine to evaluate its performance in paternity testing with mismatched STR loci. A total of 15 samples from seven cases containing one mismatched locus by capillary electrophoresis typing were analyzed. Combined paternity index (CPI) and relative chance of paternity were calculated according to the International Society for Forensic Genetics guidelines and the Chinese national standards recommended for paternity testing. With simultaneous analysis of enough STR loci, the results support the certainty of paternity, and the mismatched alleles were considered to be mutations (CPI > 10,000). With the detection of allele sequence structures, the origins of the mutations were inferred in some cases. Meanwhile, nine STRs (CSF1PO, D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D12S391, D21S11 and D4S2408) were found in an increased number of unique alleles and three new alleles in three STRs (D2S441, D21S11, and FGA) that have not been reported before were detected. Therefore, MPS can provide valuable information for forensic genetics research and play a promising role in paternity testing.     

肝滤泡树突细胞肉瘤1例报告

<正>1 病例资料患者女性,41岁,因"体检发现肝占位性病变3 d"入本院。2015年10月8日患者曾在上海东方肝胆外科医院行肝尾状叶、胆囊切除术,术后未行任何放、化疗,术后病理回报提示倾向于原发性肝滤泡树突细胞肉瘤(follicular dendritic cell sarcoma, FDCS)。查体:专科情况未见异常。入院后完善相关检查,肝脏超声造影示:动脉造影剂迅速填充,快于周围肝实质,延迟相造影剂消退明显快于周围肝实质,     

腹部淋巴结病变80例应用磁共振联合弥散加权成像定性诊断临床价值分析

目的 探讨腹部淋巴结病变患者采用常规磁共振(MRI)联合弥散加权成像(DWI)定性诊断临床价值。 方法 选取吉林大学中日联谊医院2015年8月至2016年8月确诊为腹部淋巴结病变的患者80例,分为恶性组(52例)与良性组(28例),比较与分析两组患者间MRI影像学表现特征,并对MRI、DWI及联合MRI与DWI定性诊断价值进行评价分析。 结果 恶性组:52例患者中,单发者16例、多发者36例,病变位置主要为肝门和肝胃间隙及门腔间隙等区域;形态:单发者主要为圆形或类圆形;多发者主要为不规则分叶状或团块状或块状,且周围脂肪间隙模糊。良性组:单发者22例、多发者6例,病变位置主要为肝门区域和门腔间隙及肠系膜根部或周围;形态:单发者主要为圆形或类圆形;多发者中4例为粘连并融合成块且周围脂肪间隙模糊,2例表现为串珠状且边界清晰。恶性组囊变率为78.85%与良性组64.29%比较,χ²=1.99,P=0.153;环形强化率48.08%,明显高于良性组14.29%,χ²=8.99,P=0.000。联合MRI与DWI定性诊断准确率明显高于单独MRI或DWI定性诊断准确率,P<0.05。良性组淋巴结ADC值平均为(1.691±0.298)×10³ mm²·s-1,明显高于恶性组(1.048±0.192)×10³ mm²·s－1,t=11.71,P=0.00。 结论 联合磁共振与弥散加权成像对临床定性诊断腹部淋巴结病变具有重要价值。     

Toripalimab plus chemotherapy in treatment-naïve,advanced esophageal squamous cell carcinoma (JUPITER-06): A multi-center phase 3 trial

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Paternity testing and other inference about relationships from DNA mixtures

We present methods for inference about relationships between contributors to a DNA mixture and other individuals of known genotype: a basic example would be testing whether a contributor to a mixture is the father of a child of known genotype. The evidence for such a relationship is evaluated as the likelihood ratio for the specified relationship versus the alternative that there is no relationship. We analyse real casework examples from a criminal case and a disputed paternity case; in both examples part of the evidence was from a DNA mixture. DNA samples are of varying quality and therefore present challenging problems in interpretation. Our methods are based on a recent statistical model for DNA mixtures, in which a Bayesian network (BN) is used as a computational device; the present work builds on that approach, but makes more explicit use of the BN in the modelling. The R code for the analyses presented is freely available as supplementary material.We show how additional information of specific genotypes relevant to the relationship under analysis greatly strengthens the resulting inference. We find that taking full account of the uncertainty inherent in a DNA mixture can yield likelihood ratios very close to what one would obtain if we had a single source DNA profile. Furthermore, the methods can be readily extended to analyse different scenarios as our methods are not limited to the particular genotyping kits used in the examples, to the allele frequency databases used, to the numbers of contributors assumed, to the number of traces analysed simultaneously, nor to the specific hypotheses tested.