Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disease characterized by progressive lower limb spasticity. Recent studies revealed that biallelic variants in RNF170 gene cause autosomal recessive complicated HSP with infancy onset. Here, we report an adolescent-onset HSP patient from a consanguineous Chinese family, with lower extremity stiffness, spastic gait, and unstable straight-line walking as the main manifestations. Whole-exome sequencing identifies a novel RNF170 mutation c.190C>T (p.R64*), which co-segregates with the disease in this pedigree. Functional analysis, including quantitative real-time PCR (RT-qPCR) and Western blot, indicates that both the mRNA and protein levels of mutant RNF170 are significantly reduced, which confirms the loss-of-function mechanism. Our study expands the spectrum of RNF170-associated HSP, while the RNF170 protein-involved degradation of the inositol 1,4,5-trisphosphate receptor in neurodegenerative motor neuron disorders deserves further investigation.     

人乳头瘤病毒16型(湖北株)E7基因在体内和体外的表达

构建人乳头瘤病毒１６型（ＨＰＶ１６）Ｅ７湖北株（ＨＢ）基因真核表达质粒,探讨其在哺乳动物体外,体内表达状况,为本地区ＨＰＶ相关肿瘤的基因治疗提供依据。方法采用分子克隆技术,构建ＨＰＶ１６Ｅ７－ＨＢ重组表达质粒,磷酸钙－ＤＮＡ沉淀技术及基因免疫技术将外源目的基因（ＨＰＶ１６Ｅ７－ＨＢ）导入ＮＩＨ３Ｔ３细胞及大、小鼠体内ＰＣＲ,ＲＴ－ＰＣＲ,免疫荧光染色技术对外源目的基因及其产物（ｍＲ－ＮＡ,蛋白质。     

肢端型系统性硬皮病误诊1例

1　病例报告　女 ,45岁 ,因吞咽困难 16 mo伴发热 15 d,于1999- 0 7- 12入院 .于 16 mo前与人争吵后出现吞咽困难 ,以进食馒头、面条为著 ,剑突下有时出现梗噎感 ,随即呕吐 ,呕出所进食物及粘液 ,情绪波动可诱发症状加重 ,伴食欲减退、返酸 .15 d前无诱因出现不规则发热 ,T38～ 39℃ ,上腹痛加重 ,全身酸困不适 ,乏力、头晕、消瘦 .追问病史 ,患者 5 a前双手、足疼痛麻木 ,尤以受凉、精神刺激后明显 ,手指初发白 ,继而发紫 ,变红 ,且麻木疼痛加重 ,手足小关节渐僵硬、畸形 .曾到多家医院就诊 ,诊断 :“雷诺病、类风湿性关节炎”.2 a前出现…     

STUDY ON MODIFIED COLD STORAGE METHOD OF RAT LIVERS WITH SELF-MADE HYD SOLUTION

ＩＮＴＲＯＤＵＣＴＩＯＮ　　Ｔｈｅｍｅｔｈｏｄｏｆｃｏｌｄｌｉｖｅｒｐｒｅｓｅｒｖａｔｉｏｎｉｓａｃｒｕｃｉａｌｌｉｍｉｔ ｉｎｇｆａｃｔｏｒｉｎｔｈｅｄｕｒａｔｉｏｎｏｆｌｉｖｅｒｐｒｅｓｅｒｖａｔｉｏｎ .Ｅｘｐｅｒｉｍｅｎｔａｌｅｖｉｄｅｎｃｅｈａｓｓｈｏｗｎｔｈａｔｎｏｎｐａｒｅｎｃｈｙｍａｌｃｅｌｌｓａｒｅｍｏｒｅｖｕｌｎｅｒａｂｌｅｔｏｈｙｐｏｔｈｅｒｍｉｃｓｔｏｒａｇｅｔｈａｎｈｅｐａｔｏｃｙｔｅ,ｉｎｄｉｃａｔｉｎｇｔｈａｔｐｒｏｔｅｃｔｉｏｎｏｆｔｈｅｍｉｃｒｏｖａｓｃｕｌａｔｕｒ…     

三种药物对早孕妇女宫颈松弛活性观察报告

将 2 31例早孕妇女人工流产术前随机分为四组 :A组 (n =5 2 )口服米非司酮 2 5mg ,每日 2次 ,共 4次 ;B组 (n =6 0 )米索前列醇 6 0 0 μg ,顿服 ;C组 (n =6 3)宫术安栓 0 4g纳肛 ;D组 (n =5 6 ,对照组 ,不用任何药物 )。用Hegar宫颈扩张器测试无阻力通过宫颈内口的最大直径 (X±S　mm) ,A、B、C、D组分别为 7 2 2± 0 71,7 11± 0 72 ,5 6 2± 0 74,4 6 3± 0 84。经统计学分析A、B组与C、D组有显著性差异 (P <0 0 0 1)。结果显示米非司酮和米索前列醇对早孕宫颈有较为肯定的松弛作用。     

保存时间及温度对血清标本补体C_3和CH50测定结果的影响

目的 了解保存时间及温度对补体活性的影响。方法:用单向琼脂扩散法和非离心单管法对不同温度和时间下标本的C_3含量及CH50进行测定。结果与结论:血清补体C_5含量在室温下24h、4C下4dC、-10C和-20C下8d内无显著变化;CH50在室温下12h、4C下24h,-10C和-20C下8d内CH50无明显变化。     

补偿曲线曲度与弦斜度相关性分析

①目的　统一平衡牙合 ５ 个因素的衡量标准平面和单位,探讨弦斜度与补偿曲线曲度的相关关系。②方法　应用 Ｘ 线立体摄影测量结合计算机技术,对哈尔滨市９９ 例青年的补偿曲线进行测量分析,并以圆心角代表补偿曲线曲度。③结果　弦斜度与圆心角呈高度正相关（ｒ＝ ０．９４７１, Ｐ＜ ０．０１）。方差分析示弦斜度性别差异有极显著性（ Ｆ＝ ７．７９１４, Ｐ＜ ０．０１）。④结论　用弦斜度代替补偿曲线曲度是可行的。     

7种化疗药物体外对白血病细胞杀伤作用观察

目的：为了探讨不同化疗药物作用于白血病细胞的特点,为临床化疗提供理论依据。方法：采用溴化四氮唑兰法（ＭＴＴ法）研究了１９例初治急性髓系白血病患有髓原代白血病细胞和Ｋ５６２细胞系体外对７种化疗药物及两药联合物敏感性。结果：柔红霉素（ＤＮＲ）、威猛（ＶＭ２６）,三尖杉酯碱（Ｈ）和米托恩醒（ＭＴＴ）体外杀伤白血病细胞作用较强,其中ＶＭ２６、Ｈ的作用曲线比较独特。两种药物联合使用效果多数按近或好于单用效果     

护士长心理健康水平及其相关因素调查

目的探讨影响护士长心理健康的相关因素。②方法采用症状自评量表（ＳＣＬ－９０）、ＯＬＳＯＮ婚姻质量问卷（ＥＮＲＩＣＨ）和社会支持评定量表等６项心理问卷,对３５０名护士长进行了调查。③结果３５０名护士长的ＳＣＬ－９０中阳性项目数和躯体化因子分、强迫因子分、恐怖因子分、精神病性因子分均显著高于中国常模（ｔ＝２．４８～７．７４,Ｐ＜０．０５,０．０１）。影响护士长心理健康水平的多种因素中以神经质因子、兴奋性因子、敢为性因子、角色平等性因子和婚姻满意度因子的影响较大。④结论人格特征和婚姻质量是影响护士长心理健康的重要因素。     

Does glutathione-S-transferase dethiolate lens protein-thiol mixed disulfides?-A comparative study with thioltransferase.

Protein S-thiolation is a process in which under oxidative stress, vulnerable sulfhydryl groups of proteins are conjugated to non-protein thiols such as glutathione (GSH) or cysteine resulting in the formation of protein-thiol mixed disulfides, protein-S-S-glutathione (PSSG) and protein-S-S-cysteine (PSSC). This process spontaneously disrupts the redox homeostasis of the cells, which in turn leads to functional disturbances in the respective tissue. In the ocular lens, such modification of proteins may trigger a cascade of events starting with the alteration of protein conformation, protein/enzyme deactivation, protein-S-S-protein aggregation and eventually lens opacification or cataract. Generally, the first line of defense system in the cells protects the lens proteins against such damage. Recent studies in our laboratory have shown that in addition to this defense system, lens cells also possess a well developed system to repair the oxidative damage to the lens proteins. We have identified this repair system as thioltransferase (TTase) and have proved that TTase by its dethiolase activity reverses the protein S-thiolation process which returns the oxidatively damaged lens proteins/enzymes to their original reduced state and restores their physiological functions. We investigated if this repair mechanism was mediated by enzymes other than TTase. We studied glutathione S-transferase (GST) and report here for the first time the cloning, high level expression, and purification of human lens mu and pi isoforms of GST. A comparative study of recombinant human lens TTase and GST (mu and pi) on their dethiolating abilities using lens crystallin-thiol mixed disulfides showed that the lens TTase is 60-70% more efficient in the dethiolation/repair process than GST. When TTase and GST were tested in conjunction for the dethiolation of thiol mixed disulfides, there was no significant enhancement of dethiolase activity. These findings suggest that TTase by itself is an efficient enzyme in the dethiolation/repair process and hence can be considered a crucial system to counteract oxidative stress in the lens.