Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.     

血管透明化与粒子图像测速技术在旁路血管内血流流场研究中的应用

探索采用血管透明化技术结合粒子图像测速技术(PIV)来研究搭桥血管内血流流场的可行性.结果显示血管透明化技术能完整地保留搭桥血管段在体内的真实立体几何构形,从而更准确地反应搭桥血管段在体内的血流流场,而PIV能很好地获得血流流场的信息.因此,将血管透明化技术与PIV相结合有可能使我们对旁路搭桥术后血管内膜增生的血流动力学成因进行更深入地研究.     

呼气相胸片的识别研究

根据呼气相胸片中肺部区域灰度较高的特点，通过边缘提取和边缘跟踪确定胸部区域，运用最大类间方差方法确定图像分割的阈值．再提取出肺部区域，然后求出肺部的灰度均值。但这样的结果并不理想。于是在此基础上提出修正方案，即以肺部灰度均值和骨骼灰度均值的比值作为特征值．即比例法。此方法可以较客观的识别呼气相胸片。最后用类间距离对这两种方法进行了量化比较。     

Thymocyte and peripheral blood T lymphocyte subpopulation changes in piglets following in utero infection with porcine reproductive and respiratory syndrome virus

Piglets infected in utero with porcine reproductive and respiratory syndrome virus (PRRSV) are born severely immunocompromised. In this article we more closely examine the effects of in utero PRRSV infection on circulating and thymic T cell populations. Numbers of CD4+, CD8+, and dual-positive lymphocytes were quantitated in circulation and in the thymus during the 2 weeks following birth. At birth we found that the number of circulating lymphocytes was suppressed by 60%. Lymphocyte numbers were also suppressed by 42% at day 7, but by day 14 the number of lymphocytes had rebounded and was actually 47% greater than controls. At birth and day 7, a drop in the number of CD4+ cells could partially explain the suppression we observed, while the rebound in total lymphocyte numbers seen at day 14 was due to a nearly fourfold increase in the number of circulating CD8+ cells. As a result, the normal CD4+:CD8+ ratio of between 1.4 and 2.2 for neonatal pigs was reduced to 0.1-0.5. The thymuses of infected piglets were found to be 50% smaller than those of control pigs and were characterized by cortical involution and severe cortical depletion of thymocytes. Analysis of the population of thymocytes revealed that double-positive thymocytes were suppressed to a greater degree than either single positive subpopulation. In addition, we show that the number of thymocytes undergoing apoptosis was increased twofold in piglets infected with PRRSV. Taken together, these results help explain the dramatic immunosuppression observed in neonatal animals infected in utero with PRRSV.     

金针菇子实体多糖提取物对人肝癌SMMC—7721细胞的抑增殖作用

金针菇子实体经热水提取，乙醇沉淀，胰蛋白酶水解，Ｓｅｖａｇ法去除蛋白质，乙醇分级沉淀等处理得金针菇子实体多糖。研究了该多糖对人肝部ＳＭＭＣ－７７２１细胞生长曲线，有丝分裂指数及线粒体活性的影响。结果表明该多糖对体外培养的人肝癌ＳＭＭＣ－７７２１细胞具一定抑制作用。     

激活AMPA受体抑制大鼠骶髓后连合核神经元NMDA反应──制霉菌素穿孔法膜片钳研究

在急性分离的大鼠骶髓后连合核神经元上，采用制霉菌素穿孔法膜片钳技术，研究ＡＭＰＡ受体和ＮＭＤＡ受体的相互作用．结果显示，激活ＡＭＰＡ受体可逆性地抑制ＮＭＤＡ反应，该效应依赖于细胞外钙离子．而且，通过ＡＭＰＡ受体通道内流的钙离子单独即足以抑制ＮＭＤＡ受体介导的反应．本结果证明，钙离子可透性ＡＭＰＡ受体可能参与了脊髓伤害性信息的调控．该过程可能与针刺镇痛的机制有关．