Central core disease--a case report.

Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.     

Studies on corneal penetration ofp-hydroxybenzoic acid esters

Corneal permeability of variousn-alkylp-hydroxybenzoates (parabens) was studiedin vitro using excised rabbit corneas, and the effect of lipophilicity of parabens on the corneal permeability was also investigated. Permeability coefficients were obtained from the least-square linear regression after the steady state had been reached. Lipophilicity of parabens was calculated by distribution coefficients determined in octanol-S \(12_\phi [\kern-0.15em[ \) rensen’s buffer solution (pH 5.0). The relationship between lipophilicity and corneal permeability of parabens was not linear, but the optimum lipophilicity for the maximum permeation was found. The influence of tween 80 on corneal permeability of methyl and butylparaben was not significant.     

Studies on the luminescence of channels in rats and its law of changes with "syndromes" and treatment of acupuncture and moxibustion.

We previously reported the discovery of 14 channels in the human body, which possessed the biophysical property of high emission of light. In this study we found the same property on the Ren and Du channels in healthy rats. Additionally, we discovered that the luminance of the related channels in rat models with different "syndromes" varied greatly. For instance, a markedly low luminance appeared on the Du channel in animals with experimental syndrome of Yang deficiency induced by hydrocortisone; while in animals with experimental syndrome of blood deficiency caused by bleeding, an apparently low luminance occurred on the Ren channel. The intensity of the emitted light on Du and Ren channels increased after acupuncture treatment, but not significantly. This phenomenon conforms to the theory in traditional Chinese medicine that the Du channel is the "sea of Yang channels", while the Ren channel is the "sea of Yin channels".     

Characterization and distribution of [3H]ohmefentanyl binding sites in the human brain

Binding properties and localization of [3H]ohmefentanyl, a new ligand for mu opioid receptors, were investigated on normal human brain sections. Binding assays performed at the level of the basal ganglia revealed: (1) a steady-state binding reached after 60 min incubation at room temperature, (2) the presence, in saturation experiments, of an apparent single class of binding sites with a Kd = 1.68 +/- 0.45 nM and a Bmax = 162 +/- 9 fmol/mg protein, (3) an order of potency to inhibit [3H]ohmefentanyl binding as follows: ohmefentanyl greater than [D-Ala2, MePhe4, Gly-ol5] enkephalin (DAGO) greater than ethylketocyclazocine (EKC) much greater than Tyr-D-Ser(OtBu)-Gly-Phe-Leu-Thr(OtBu) (BUBU) and U-50,488H. Quantitative autoradiography showed an heterogeneous distribution of [3H]ohmefentanyl binding sites with the highest densities in amygdala, medical geniculate body, thalamus, and caudate nucleus. Binding characteristics and anatomical distribution also show that [3H]ohmefentanyl may bind to a small proportion of additional sites called "DAGO-inaccessible [3H]ohmefentanyl specific binding sites." [3H]Ohmefentanyl binding to these sites can be partly inhibited by sigma ligands such as 1,3-di-o-tolylguanidine (DTG) and haloperidol. However, unlabeled DAGO inhibited more than 80% of [3H]ohmefentanyl specific binding in most of the human brain regions studied, suggesting that the major population of sites labeled by [3H]ohmefentanyl represented mu opioid receptors.     

活血止痛方的抗炎及抗血栓形成作用

目的 :观察活血止痛方对小鼠的抗炎作用及对大鼠血栓形成的影响。方法 :用二甲苯作为致炎剂 ,观察活血止痛方对二甲苯所致小鼠耳廓肿胀的影响 ,采用大鼠体外颈总动脉—颈外静脉血流旁路形成血小板血栓法 ,观察活血止痛方的抗血栓形成作用。结果 :活血止痛方能显著抑制耳肿胀 (P<0 .0 1) ,能显著减轻血栓湿重 (P<0 .0 1)。结论 :活血止痛方有明显的抗炎、抗脑血栓形成作用     

葡萄胎p53、p21~(CIP1)及p185蛋白表达与恶变的关系

目的 :探讨葡萄胎p5 3、p2 1CIP1及p185蛋白表达与恶变的关系及其临床特点。方法 :免疫组化法检测葡萄胎标本中p5 3、p2 1CIP1及p185蛋白的表达 ,以侵蚀性葡萄胎及绒癌为对照 ,并回顾性分析其临床资料。结果 :葡萄胎组p5 3、p2 1CIP1、p185蛋白阳性表达率分别为 35 % (35 / 10 0 ) ,71% (71/ 10 0 )及 36 % (36 / 10 0 ) ,与恶性对照组相比均有显著性差异 (P <0 .0 5 ) ;而完全性与部分性葡萄胎 ,完全性葡萄胎恶变组与非恶变组之间差异均无显著性 (P >0 .0 5 ) ,但恶变组p2 1CIP1表达有降低趋势。结论 :p5 3、p2 1CIP1及p185蛋白表达改变与葡萄胎恶变无确定关系 ,但可作为晚期现象出现于恶性滋养细胞肿瘤中 ,其中p2 1CIP1蛋白表达降低提示滋养细胞有向恶性转化的倾向     

Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from age 5 to 15 years. Rapid progression of systemic and neurological symptoms was noted in the elder brother. Mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation.     

通关利窍针法治疗中风致假性延髓麻痹临床观察

目的　观察通关利窍针法治疗中风致假性延髓麻痹的疗效。方法　将 10 0例患者随机分为治疗组和对照组各 5 0例 ,治疗组采用通关利窍针法 ,对照组采用康复训练法 ,均 14次为 1个疗程 ,疗程间休息 3日 ,2个疗程后评定疗效。结果　治疗组总有效率 96 .4 % ,对照组 2 4 % ,两组差异有显著性意义 (P<0 .0 5 ) ,治疗组疗效和年龄、病程、病情轻重有关。结论　通关利窍针法治疗中风后假性延髓麻痹优于康复训练法     

针刺对吗啡戒断大鼠脑组织一氧化氮合酶基因表达的影响

目的 :观察针刺对吗啡戒断大鼠脑组织神经元一氧化氮合酶基因 (nNOSmRNA)表达的影响 ,探讨针刺改善戒断症状的分子生物学机理。方法 :建立大鼠吗啡自然戒断模型 ,运用逆转录聚合酶链反应 (RT PCR)测定戒断大鼠脑组织nNOSmRNA的表达。观察戒断后 ,针刺“足三里”和一氧化氮合酶 (NOS)抑制剂L N 硝基精氨酸 (L NAME)对吗啡戒断大鼠戒断症状和脑组织nNOSmRNA表达的影响。结果 :戒断组nNOSmRNA表达增加 ,针刺组和L NAME组nNOSmRNA表达比戒断组减少。针刺组戒断积分比戒断组少 ,组间差异显著 (P <0 .0 1 )。结论 :针刺“足三里”穴具有抑制吗啡戒断大鼠脑组织nNOSmRNA表达的作用 ,提示这可能是针刺改善吗啡戒断症状的一个重要机制。     

mRNA差异显示法筛选和克隆胃癌相关基因

目的 :筛选和克隆胃印戒细胞癌与正常胃黏膜细胞差异表达基因片段。方法 :采用mRNA差异显示法 (mRNAdifferentialdisplayPCR ,DD PCR) ,对比胃印戒细胞癌组织与正常胃黏膜组织mRNA的表达差异 ,克隆胃印戒细胞癌差异片段 ,经过RNA的斑点杂交、测序以及序列分析和同源性比较。结果 :胃印戒细胞癌与正常胃黏膜中存在明显的基因表达差异 ,发现与胃癌相关的差异表达条带 16条 ,其中 7条为缺失表达条带 ,9条为过度表达条带。对其中 4条差异表达条带进行克隆、测序 ,经序列分析及同源性比较和RNA的斑点杂交 ,表明确认其中 1条为GenBank/BLAST中尚未收录的片段。结论 :胃印戒细胞癌的mRNA差异显示证明 ,该EST序列可能在胃癌的发生发展中具有一定作用