Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB.     

四种大宗常用中药饮片中黄曲霉毒素污染状况分布比较研究

目的 测定不同来源的4种大宗常用中药饮片中黄曲霉毒素（AFB₁、AFB₂、AFG₁和AFG₂）的含量，比较不同基质中药饮片中黄曲霉毒素的分布状况。方法 基于免疫亲和柱净化-高效液相色谱分离-荧光检测器（IAC-HPLC-FLD）方法，分析不同产地共75批中药样品。结果 柏子仁、薏苡仁、决明子及党参共计75批中药饮片中，阳性检出：26批柏子仁（AFs 1.22-46.67 μg·kg^-1，AFB₁ 1.22-31.40 μg·kg^-1）、4批薏苡仁（AFs 1.97-41.13 μg·kg^-1，AFB₁ 1.97-36.40 μg·kg^-1）、1批决明子（AFs 13.65 μg·kg^-1，AFB₁ 12.60 μg·kg^-1），阳性率41%，超标率15%。阳性样品经 LC-MS/MS确证，排除假阳性。4种大宗常用中药饮片柏子仁、薏苡仁、决明子、党参中黄曲霉毒素的污染水平依次降低，阳性检出率分别为77%、29%、7%、0%，表明中药材中黄曲霉毒素的污染状况与药材基质密切相关。结论 针对易污染AFs的中药品种，需进一步加强其污染状况的全面检测分析，为黄曲霉毒素的有效防控以及完善中药的质量标准提供科学依据，从而保障中药用药安全。     

螺旋CT的预防性维修

尽早发现故障苗头,并将故障消灭于萌芽状态,是预防性维修的目的,是维修工作的最高境界,具体工作包括定期保养,定期检查,随即处置隐患,根据从业多年经验小结了一些针对螺旋CT的预防性维修感受。     

SA脂质体介导GFP／bFGF基因在豚鼠耳蜗中的表达

目的 :观察天然碱性脂 (Stearylamine,SA)脂质体介导绿色荧光蛋白 /碱性成纤维细胞生长因子(GFP/bFGF)基因于不同时间段豚鼠耳蜗中的表达 ,为进一步研究耳聋的基因治疗提供实验基础。方法 :取豚鼠 1 6只 ,分成 4组 ,每组 4只。其中 3只右耳圆窗内注入SA -GFP/bFGF复合物 ,1只同法注入生理盐水作为对照。分别于术后第 2、7、1 4、2 1天取材。在荧光显微镜下观察GFP的表达 ,用免疫组化法检测bFGF的转导情况。结果 :荧光显微镜下见双侧耳蜗于术后第 2天开始部分细胞发出绿色荧光 ,第 7天达到高峰 ,支持细胞及内外毛细胞均显荧光 ,细胞轮廓清晰 ;第 1 4天开始减弱 ,第 2 1天消失。免疫组化染色显示 ,除血管纹外 ,耳蜗各回Corti器、螺旋韧带、螺旋缘及螺旋神经节细胞均有高浓度的表达产物 ,对照动物呈阴性表达。结论 :SA脂质体介导的GFP/bFGF基因单耳给药双侧耳蜗均有高效表达 ,为进一步研究基因治疗耳聋提供了可能。     

乌鲁木齐市家蝇抗药性现状及发展趋势分析

目的 分析乌鲁木齐市家蝇对化学杀虫剂的抗药性现状及发展趋势，探讨防制对策。方法 常规微量点滴法。结果 对溴氰菊酯的抗性系数在24．00-253．67；对敌敌畏的抗性系数在11.44-53.24;对二氯苯醚菊酯抗性系数在9.29-36.10，对氯氰菊酯的抗性系数在2.32-9.62。结论：8年来家蝇对4种杀虫剂的抗药性在不断上升，仍保持较高水平，但迅速上升的趋势开始减缓。     

二至丸对四氯化碳所致小鼠ALT升高的预防作用

目的研究二至丸水提物、女贞子、墨旱莲的保肝作用.方法通过检测血清酶学指标,观察二至丸对四氯化碳肝损伤模型的保护作用.结果用药各组均具有降低丙氨酸氨基转移酶(ALT)作用,以二至丸超声水提液和水煎液作用最强,女贞子皂甙和墨旱莲乙酸乙酯提取物的混合物可作为复方保肝降酶的有效部位,但两者不同混合比例的保肝降酶作用应作进一步研究,以寻找最佳配比,达到最佳保肝效果.结论用药各组均具有保肝降酶作用,女贞子皂甙和墨旱莲乙酸乙酯提取物的混合物可作为二至丸复方的保肝降酶的有效部位.     

PHAGAQUOSONOGRAM (PASG) DIAGNOSIS FOR CANCER OF GASTRIC CARDIA A PRELIMINARY STUDY OF 223 PATIENTS

Phagaquosonographies (PASG) of 100 normal subjects and 223 patients with cardiac cancer (CC) were analyzed. The apparatus was self-designed and self-manufactured. The wave patterns and the pre-ejection period and other 8 quantitative indices in PASG were compared and patients with CC were found to have abnormal levels (P less than 0.01). The phagaquosonograms in 82 patients with esophageal, gastric or cardias (non-cancer) diseases served as controls. The PASG showed positive results in 97.3%, suspicious in 2.3% and negative in 0.4% of CC cases and 100% negative in the normal subjects. It was 1.2% positive, 8.5% suspicious and 90.3% negative in the esophageal, cardiac or gastric non-cancer diseases. PASG has high sensitivity (97.3%), and typical characteristics (98.8%). It is shown that this method can be used in screening, diagnosis, differential diagnosis and prediction of prognosis of cardiac cancer.     

Outgrowth-regulating actions of glutamate in isolated hippocampal pyramidal neurons

The present study examined the effects of glutamate on the outgrowth of dendrites and axons in isolated hippocampal pyramidal-like neurons in cell culture. During the first day of culture the survival and outgrowth of these neurons was unaffected by high concentrations (up to 1 nM) of glutamate, quisqualic acid (QA), kainic acid (KA), and N-methyl-D-aspartic acid. Beginning on day 2 of culture high levels of glutamate, KA and QA were toxic to the majority of pyramidal neurons, while subtoxic levels of these agents caused a well-defined, dose-dependent, sequence of effects on dendritic outgrowth. At increasing concentrations of glutamate, QA, and KA, the following events were observed: (1) dendritic outgrowth rates were reduced, while axonal elongation rates were unaffected; (2) dendritic length was reduced, while axons continued to grow; (3) dendrites regressed dramatically, and axonal outgrowth rate was reduced. These dendrite-specific effects of glutamate were apparently mediated at the growth cones since focal application of glutamate to individual dendritic growth cones resulted in suppression of growth cone activity and a regression of the dendrite; axons were unaffected by focal glutamate application. Pharmacological tests using glutamate receptor agonists and antagonists demonstrated that receptors of the KA/QA type mediated the glutamate effects on outgrowth and survival. The calcium channel blocker Co2+ prevented both glutamate neurotoxicity and glutamate-induced dendritic regression. Ionophore A23187 and elevations in extracellular K+ levels each caused a dose-dependent series of outgrowth and survival responses similar to those caused by glutamate. Taken together, these results indicate that activation of glutamate receptors leads to the opening of voltage-dependent calcium channels; the resulting increases in calcium influx lead to the observed alterations in dendritic outgrowth and neuronal survival.     

阈下刺激定位慢径消融靶点的临床应用研究

目的 :探讨利用阈下刺激 (STS)定位房室结折返性心动过速 (AVNRT)的慢径消融靶点的临床应用价值。方法 :选择AVNRT患者 6例 ,经常规电生理检查明确诊断后 ,将大头电极放在冠状窦口下缘与希氏束之间的中下区域进行标测 ,测定该点的起搏阈值后 ,诱发AVNRT ,然后发放STS终止AVNRT ,在终止位点处试消融 ,观察STS标测消融的有效性 ;在非终止位点处 ,结合局部心内电图判断是否进行试消融 ,如在非终止位点处试消融 ,观察STS标测的可靠性。同时观察STS标测定位的安全性。结果 :在 6例患者中 ,有 3例STS终止了持续性AVNRT ,且在终止位点处试消融并获得成功 ;有 5例共在 10个位点处发放了STS ,其中在 9个位点未终止心动过速 ,在这些非终止位点处试消融均未获得成功 ,非 1个位点出现了心房夺获。所有患者在STS标测过程中 ,未出现心房颤动、心动过速的加速或心室颤动等现象。结论 :STS终止AVNRT的位点是判断消融靶点的一个良好的电生理学指标。STS标测定位是安全、有效和可靠的一种方法 ,值得进一步地深入研究     

螺旋CT的滑环故障及维修

滑环是螺旋CT最基本的部件之一,承担着扫描架中固定与旋转部件之间的供电、接地及信息传递等功能,并介绍了滑环的基本结构、故障检修及维护.