Study on genetic polymorphisms of DCC gene VNTR in esophageal cancer

The abeted in Colo~ cancer gene (DCC) is re~ as a susceptibility gene in colol'eCtal cancer, whichis located on chlomesome 18qZI. 2. Ihactivation of thisgene may Play an i~ role dndng some Pimessessuch as ~ p~ssion and metastasis. With its ~allycloned, in lop, casinger et alllJ found that a vocablenumber tandem repeat (VNTR) is located wick an intwOf the DCC gene, its lepeat act is 2 hp,the core seqUence of (TA)n ~ numbers ~ 10 -- to tinies, whichis an ideal genetic rnalker. Esophageal…     

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification-based next-generation sequencing system

Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1. This is the largest Asian case series and the first to apply an amplification-based next-generation sequencing through custom panels of causative genes for HCTDs, including a specific method of evaluating copy number variations. Among 429 patients with suspected HCTDs analyzed, 101 were suspected to have vEDS, and 33 of them (32.4%) were found to have COL3A1 variants. Two patients with a clinical diagnosis of Loeys–Dietz syndrome and/or familial thoracic aortic aneurysm and dissection were also found to have COL3A1 variants. Twenty cases (57.1%) had missense variants leading to glycine (Gly) substitutions in the triple helical domain, one (2.9%) had a missense variant leading to non-Gly substitution in this domain, eight (22.9%) had splice site alterations, three (8.6%) had nonsense variants, two (5.7%) had in-frame deletions, and one (2.9%) had a multi-exon deletion, including two deceased patients analyzed with formalin-fixed and paraffin-embedded samples. This is a clinically useful system to detect a wide spectrum of variants from various types of samples.     

Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review

ObjectiveChromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence.Case reportFour pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of various indications for prenatal diagnosis: prenatal ultrasound abnormalities (cases 1, 2 and 4) and the childbearing history of cerebral palsy child (case 3). No overlapping phenotypes were observed in cases 1, 2 and 4, which might indicate phenotypic diversities in prenatal phenotypes for 16p11.2 microdeletion. All four fetuses showed normal karyotypic results while CMA identified 0.303–0.916 Mb microdeletions of 16p11.2, encompassing BP2–BP3 and BP4–BP5 regions separately. According to the parental CMA verification, case 1 carried a maternal inherited duplication in the region of Xp22.33 and a de novo deletion in the region of Xp21.1. All parents opted for the termination of pregnancies based upon genetic counselling.ConclusionOur findings enriched the intrauterine phenotypic features of 16p11.2 microdeletions, which would be beneficial for genetic counselling in clinic. In addition, preimplantation genetic testing was recognized as a first-tier approach for such carriers if they intended to conceive again.     

胃选择性迷走神经切断对大鼠肝再生的影响——肝细胞体积、数量和DNA含量的研究

探讨胃选择性迷走神经切断对大鼠再生肝细胞体积、数量和ＤＮＡ含量的影响。分别测定大鼠胃选择性迷走神经切断加肝叶大部分切除及肝叶大部分切除术后７ ｄ 再生肝ＤＮＡ含量、肝细胞数和体积。用多功能显微图像测量仪测定切片中肝细胞和肝细胞核面积及肝细胞核直径。按体视学方法测算整个肝脏的肝细胞数。用细胞分光光度技术测定切片中单个肝细胞ＤＮＡ 含量。结果表明, 胃选择性迷走神经切断加肝叶大部分切除组大鼠肝细胞ＤＮＡ含量、数量及体积均较单纯肝叶切除组增加 （Ｐ＜ ０．０５）。提示胃选择性迷走神经切断对大鼠肝再生过程有一定的促进作用。     

Application of Akaike's information criterion (AIC) in the evaluation of linear pharmacokinetic equations

According to linear pharmacokinetics, the time course of plasma concentration of a drug, C_p,is expressed by a sum of exponential functions, C_p= _i=1 ⁿ a_i .This article describes a statistical technique to estimate the number of exponential terms, n,for the time course of drug by the application of Akaike's information criterion (AIC). Plasma concentrations of ethoxybenzamide, sulfisoxazole, bishydroxycoumarin, and diazepam measured following bolus intravenous injection were used as clinical examples for this method. Selection of models is compared between the AIC method and an Ftest method at significance levels of 5% and 1%.     

脑梗塞患者血小板形态的动态变化及临床意义

目的　研究脑梗塞患者血小板计数(PLT)、血小板平均体积(MPV)、血小板分布宽度(PDW)变化以及临床意义。方法　选择98例脑梗塞患者用全自动血细胞分析仪测定急性期和恢复期MPV、PLT、PDW。80例健康人作为正常对照组。结果　急性期MPV、PDW分别为10.96±1.32、12.31±2.27,较对照组以及恢复期显著升高(P<0.05);血小板数目为148.74±42.62,显著低于对照组与恢复期(P<0.05),而恢复期与对照组无差异。脑梗塞患者的梗塞面积越大,MPV、PDW越高,大面积组较小面积组、小面积组较腔隙性梗塞组患者的MPV、PDW均有显著性差异(P<0.05)。结论　动态检测MPV、PDW、PLT等血小板参数可作为临床上估计梗塞范围, 监测病情和判断预后的一项指标, 对观察药物疗效亦有帮助,值得临床应用。     

针药结合治疗失眠的临床观察

目的：观察针药结合治疗失眠的临床疗效。方法：对治疗组的40例失眠患者采取中药内服、外用针刺的结合疗法，对照组的40例患者采取西药治疗。结果：治疗组效果明显高于对照组，总有效率100％。结论：针药结合是治疗失眠的一种有效方法。     

山莴苣染色体的核型分析

 目的　对山莴苣(Lactucaindica L.)染色体核型等进行研究,为该种鉴定、起源、演化、良种培育等的深入研究提供必要的细胞学资料。方法　采用常规制片方法 ,结合显微摄影技术对染色体进行检测分析。结果　山莴苣体细胞染色体数目2n=18;核型公式是K(2n)=18=4m+14sm,染色体相对长度组成为2n=18=8M₂+8M₁+2S,属于“3A”型。全组染色体总长是60.03μm,长臂总长40.33μm,核型不对称系数为67.18%。染色体总体积113.05μm³。结论　山莴苣染色体的数量、形态清晰,可为进一步的深入研究打下基础。     

对连续使用不同批号青霉素是否重做皮试的探讨

目的:探讨连续使用不同批号甚至不同厂家青霉素是否需要重新做皮试的问题。方法:通过分析国内青霉素皮试的现状及有关要求,针对青霉素引起过敏反应的过敏原及其相关机制进行论述。结果与结论:在青霉素连续使用的过程中,可以不必因批号或厂家更换而重新做皮试