Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

Context:Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract.Aims:To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract.Results:By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls.Conclusions:The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.Key words: Congenital cataract, GJA3, mutationCongenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. Congenital cataract may be inherited or familial, either as an isolated form or as a part of a syndrome, such as Nance-Horan syndrome. Along with the development of molecular genetics, more than 20 genes have been identified to be involved in isolated cataract formation.[1]The lens is an avascular organ which is composed of a monolayer of cuboidal epithelial cells covering the anterior surface of elongated fibers, which transmits and focuses light images onto the retina. Interior fiber cells, including both primary and secondary fiber cells, undergo a maturation process to eliminate all intracellular organelles, such as the nucleus, mitochondria, endoplasmic reticulum, and Golgi apparatus, thereby minimizing light scattering and ensuring lens transparency.[2] The interior mature fibers have an extremely low metabolic activity and depend mainly on the epithelium and peripheral differential fibers for maintenance. Therefore, the lens has developed as a syncytium and a sophisticated cell-cell communication network, which facilitates both an active metabolism and transport of small metabolites, such as ions, water, and secondary messengers.[3] Intercellular gap junction channels provide pathways for metabolic and electrical coupling between cells in the lens. Gap junction channels consist of connexin (Cx) protein subunits. To date, many Cx genes have been found in the mouse genome and the human genome.[4] Mutations in Cx have been identified with various inherited diseases,[5] including Cx32 mutation in X-linked Charcot-Marie tooth disease, Cx26 and Cx30 mutations in deafness and skin diseases, Cx46 and Cx50 mutations in hereditary cataracts, and Cx31 mutation in erythrokeratodermia variabilis and hearing impairment with/without peripheral neuropathy.In our study, we found a missense mutation the substitution of proline to leucine of the codon 59 (p.P59L) in GJA3 (Cx46) associated with autosomal dominant pulverulent cataract in a Chinese family.     

频域OCT对正常中青年人黄斑区视网膜厚度的测量研究

目的研究频域Cirrus HD-OCT测量中青年人黄斑区视网膜厚度正常值。设计横断面研究。研究对象18～36岁的正常人98例196眼。方法用Cirrus HD-OCT的512×128及200×200两种扫描模式对受试者双眼黄斑区进行检测。主要指标黄斑中心区视网膜厚度,黄斑区视网膜体积,黄斑区平均视网膜厚度。结果采用512×128扫描模式,黄斑中心区视网膜厚度为(242.41±20.02)μm,黄斑区视网膜体积为(10.01±0.60)mm3,黄斑区平均视网膜厚度为(280.71±12.41)μm。九个分区视网膜平均厚度之间除了内环上方与内环鼻侧及内环颞侧与外环鼻侧之间无显著性差异外,其余各区之间均有显著性差异。左右眼之间差异无统计学意义。采用512×128及200×200两种扫描模式所测结果差异无统计学意义。结论频域Cirrus HD-OCT测量的正常中青年人黄斑区视网膜厚度较文献报告的Stratus OCT约厚50μm,在临床上进行比较时应注意仪器差异。     

260例中药不良反应文献分析

目的 :对中药引起的不良反应进行统计分析 ,为临床使用中药提供参考。方法 :对 1 998～2 0 0 2年间国内主要医药期刊报道的中药不良反应2 60例进行数据收集分析。结果 :中药引起的不良反应涉及的品种较广 ,ADR发生率以注射剂最多(占 60 .4% ) ,过敏反应最为常见 (占 5 2 .7% )。结论 :加强中药ADR的宣传 ,合理使用中药 ,尽量避免或减少ADR的发生。     

乳状液膜法提取青霉素非稳态传质数学模型的研究

在“渐进前沿模型”的基础上 ,建立并推导了乳状液膜法提取青霉素的非稳态传质数学模型。实验条件下乳状液膜法提取青霉素的过程属扩散控制 ,其阻力主要来源于膜相。青霉素在膜相中的扩散是提取过程的速控步骤     

BMI-1基因与肿瘤关系的研究进展

BMI－1基因是PCG家族的重要成员之一,是一种原癌基因,最初于1991年在鼠淋巴瘤中被发现。经过几十余年的研究,日前已对BMI－1的基因分子结构、所编码氨基酸序列以及与胚胎发育的关系有了更深一步的认识。近年来,人们发现BMI－1与肿瘤的发生、发展关系密切,BMI－1基因与肿瘤关系之间的研究更是近年来的研究热点。     

柚皮素防治去卵巢致大鼠骨质疏松症的实验研究

研究柚皮素对去卵巢致大鼠骨质疏松骨代谢及相关组织生化指标的影响。选取32只3月龄未经产雌性Sprague-Dawley(SD)大鼠,随机分为4组:假手术组(Sham)、去卵巢模型组(OVX)、17β-雌二醇治疗组(E2)和柚皮素治疗组(Naringenin),每组灌胃相应药物,给药12周后收集大鼠24 h尿液,麻醉动物采集血清,处死后解剖大鼠取以下标本进行分析:称重考察各脏器系数;制作石蜡切片观察子宫病理变化;采用全自动生化分析仪对血清肝肾功能指标进行分析;ELISA等免疫学方法对骨转换指标血清骨钙素(BGP)和尿液脱氧吡啶啉(DPD)进行测定;采用三点弯曲实验对股骨生物力学性能进行分析;采用DEXA骨密度测定仪及Micro CT对骨矿密度(BMD)、骨矿含量(BMC)及干骺端骨小梁微组织结构进行测定。结果发现柚皮素可以对抗卵巢切除引起的大鼠体重增加,抑制骨转换指标BGP和DPD含量的升高,降低骨转换率,保持骨矿密度,改善骨应力和弹性模量等内在特性指标,同时骨小梁微结构也有了显著改善;另外,对肝肾功能未产生明显影响。可见柚皮素对去卵巢致大鼠骨质疏松有明显的防治作用,具有开发为妇女绝经后骨质疏松症治疗药物的潜在价值。     

临床药师对1例喘息性支气管肺炎患儿用药方案分析及药学监护

目的：通过分析1例喘息性支气管肺炎患儿的药物治疗过程,探讨临床药师开展临床药学的主要方法。方法：从一般病史、用药史、疗效观察、不良反应观察、用药教育等方面分析1例喘息性支气管肺炎患儿的用药方案。结果：从病史及用药史采集、观察疗效、观察不良反应、抗感染药物应用、专科药物的应用等方面分析得出该患儿用药方案基本合理,但用药仍有值得改进之处。结论：从疗效、不良反应、专科药物应用等方面分析用药方案,是临床药师开展临床药学监护的基本工作内容;深入研究抗感染用药、专科用药、益生菌等药物的使用是实施儿童支气管肺炎药学监护的亮点。临床药师可以通过分析现状、临床实践、分析解决问题的持续改进这一循环方式推动临床药学发展。     

Effect of H2S Corrosion on the Fracture Toughness of the X80 Pipeline Steel Welded Joint

To analyze the causes and mechanisms affecting the fracture toughness of X80 pipeline steel welded joints against H₂S, the fracture toughness of different zones of X80 pipeline steel welded joints in both air and saturated H₂S solution was investigated. The fracture toughness of welded joints degraded significantly in the saturated H₂S solution, where the crack tip opening displacement (CTOD) characteristic value in the coarse grain heat-affected zone (CGHAZ) and weld metal (WM) was only 8% and 12% of that in air, respectively. However, the sub-critical grain heat-affected zone (SCHAZ) showed better resistance to H₂S corrosion, with the CTOD characteristic value reaching 42% of that in air. The resistance of the welded joint to H₂S corrosion was sensitive to microstructures. The grain boundary ferrite (GBF) presented in WM, and the angle of grain boundary orientation in CGHAZ was not conducive to hindering crack propagation. Moreover, the formation of the resultant hydrogen cracks owing to the H₂S corrosion also reduced the fracture toughness of the welded joint.     

巴戟天根、茎、叶中甲基异茜草素、水晶兰苷、多糖的分布与积累研究

目的 测定巴戟天根、茎、叶中甲基异茜草素、水晶兰苷和多糖的含量,揭示其分布和积累规律.方法 分别采用HPLC法、紫外分光光度法,测定不同生长年限的巴戟天根、茎、叶中甲基异茜草素、水晶兰苷及多糖的含量.结果 种植2～6年的巴戟天根、茎、叶中甲基异茜草素的含量分别为2.61～9.98、0.69 ～ 3.87、0.11 ～0.41 μg·g-1;水晶兰苷的含量分别为9.1744～16.4693、8.4812 ～13.3430、14.1367 ～23.1610 mg·g-1;多糖的含量分别为76.8191 ～ 249.6826、44.3812～96.2719、61.0919～ 167.9649mg·g-1.结论 巴戟天中甲基异茜草素和多糖主要分布在根中,水晶兰苷主要分布在叶中.在种植2～6年间,甲基异茜草素和多糖的含量呈先上后降的变化趋势,水晶兰苷的含量则不断积累.     

酪氨酸蛋白激酶抑制剂RG50864对血小板衍生生长因子诱导的肺动脉平滑肌细胞增生的影响

目的研究酪氨酸蛋白激酶抑制剂RG50864对血小板衍生生长因子(PDGF)诱导的肺动脉平滑肌细胞增生的影响。方法用原代培养的小牛肺动脉平滑肌细胞,采用细胞计数法,噻唑蓝(MTT)比色法及Giemsa染色法对PDGF诱导的肺动脉平滑肌细胞增生等情况进行分析。结果与对照组相比,RG50864处理组能在24、48、72h显著地抑制PDGF诱导的肺动脉平滑肌细胞增生,且呈剂量依赖性。结论RG50864可显著地抑制PDGF诱导的肺动脉平滑肌细胞增生。