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.     

Randomized, double-blind, controlled trial of mitoxantrone/prednisone and clodronate versus mitoxantrone/prednisone and placebo in patients with hormone-refractory prostate cancer and pain.

PURPOSE: To compare the incidence of palliative response in patients with hormone-resistant prostate cancer (HRPC) treated with mitoxantrone and prednisone (MP) plus clodronate with that of patients treated with MP plus placebo. MATERIALS AND METHODS: Men with HRPC, bone metastases, and bone pain were randomly assigned to receive clodronate 1,500 mg administered intravenously (IV) or placebo every 3 weeks, in combination with mitoxantrone 12 mg/m2 IV every 3 weeks and prednisone 5 mg orally bid. Patients completed the present pain intensity (PPI) index and Prostate Cancer-Specific Quality-of-Life Instrument at each treatment visit and used a diary to record analgesic use on a daily basis. The primary end point was a reduction to zero or of two points in the PPI or a decrease of 50% in analgesic intake, without increase in either. RESULTS: The study accrued 209 eligible patients over 44 months. One hundred sixty patients (77%) had mild PPI scores (1 or 2), and 49 (24%) had moderate PPI scores (3 or 4). The primary end point of palliative response was achieved in 46 (46%) of 104 patients on the clodronate arm and in 41 (39%) of 105 patients on the placebo arm (P =.54). The median duration of response, symptomatic disease progression-free survival, overall survival, and overall quality of life were similar between the arms. Subgroup analysis suggested possible benefit in patients with more severe pain. CONCLUSION: MP provides useful palliation in symptomatic men with HRPC. Clodronate does not increase the rate of palliative response or overall quality of life. Clodronate may be beneficial to patients who have moderate pain, but this requires further confirmation.     

加味通关液超声雾化吸入治疗Ⅱ型呼吸衰竭的临床观察

为观察中药超声雾化对呼吸衰竭的疗效,采用本院研制的加味通关液超声雾化吸入治疗Ⅱ型呼吸衰竭患者27例,并与可拉明组30例对照。结果显示:治疗组临床治愈显效率70.3％,SaO_2上升达38.4％,咳嗽、呼吸困难、咯痰好转率、平均治疗时间与对照组比较均有显著性差异(P<0.05)。     

中药治疗前后单纯疱疹性角膜炎外周血T细胞亚群检测

观察中药治疗前后单纯疱疹性角膜炎外周血Ｔ细胞亚群变化。方法：将１１２例单纯疱疹性角膜炎患者随机分为中药观察组６０例和西药对照组５２例。对其中６８例进行了外周血Ｔ细胞亚群检测。结果：１．观察组治愈５２例；对照组治愈３７例；两组差异有显著性。２．治疗后外周血Ｔ细胞亚群ＯＫＴ４增加，ＯＫＴ８下降，ＯＫＴ４／Ｔ８比值上升。结论；中药可以改变单纯疱疹性角膜炎患者的免疫失调状态，对增强免疫力有积极作用。     

人骨髓中自然抑制细胞对肿瘤细胞体外增殖的抑制作用

自然抑制(NS)活性是一类尚未完全定性的细胞所具有的对多种免疫反应的非特异抑制作用.NS细胞表面不存在成熟B细胞、T细胞及巨噬细胞的表面标记,为此,我们研究了NS细胞和造血干细胞(HSC)间的关系,结果证明,NS细胞是处于增殖周期中的HSC,并证明小鼠NS细胞具有抑制肿瘤细胞增殖的作用.本实验中,我们研究人骨髓中NS细胞的体外抗肿瘤活性,并确定其作用模式和生物学特性.     

仙龙冲剂的抗肿瘤活性及其作用机理的研究

目的:研究仙龙方的体内、体外抑癌作用及机理。方法:用 BALB/C 小鼠,荷肝癌和艾氏癌实体瘤,经口给药,观察肿瘤的抑制程度和动物的生存状况。结果:给药组肿瘤生长曲线明显低于对照组。仙龙方还能延长荷瘤动物的生存期,生命延长率为30%～69%。体外实验显示仙龙方对人癌细胞的抑制有一个良好的剂量—效应关系,肝癌的曲线之回归系数 r=0.9983,IC_(50_值为14.8±2.8μg/ml;胃癌曲线的系数 r=0.9995,IC_(50)值为9.7±5.1μg/ml,表明胃癌细胞更敏感些。细胞学研究发现癌细胞的不同程度的损伤、核染色质的凝聚现象及内质网肿胀,流式光度术分析 DNA 组方图上出现了凋亡峰。结论:仙龙方有诱导癌细胞凋亡作用。     

A flavonoid compound in Ginkgo biloba L. leaves]

One compound was isolated for the first time from ethyl acetate extract of Ginkgo biloba leaves and identified as kaempferol-3-O-rhamnoside by spectroscopic methods.     

PSA、FPSA检测和骨显像对前列腺癌骨转移的诊断价值

目的：探讨联合应用前列腺特异性抗原（PSA）、游离PSA（FPSA）检测和全身骨显像诊断前列腺癌骨转移的意义。方法：回顾性分析70例经临床确诊的前列腺癌患者，全部行血清PSA、FPSA测定，并作全身骨显像。结果：PSA〈4ng／ml在14例病人中，发生骨转移者7例，诊断阳性率为50％；PSA4ng／ml～20ng／ml共7例，发生骨转移者6例、诊断阳性率为87％；PSA〉20ng／ml组49例，发生骨转移45例，阳性率为92％。结论：PSA、FPSA检测结合全身骨显像，可尽早、全面地发现前列腺癌患者全身骨转移。     

抗菌药使用中药物治疗错误的研究

目的：研究抗茵药使用中药物治疗错误（ME）的发生情况，探讨其防范重点。方法：药师深入中心ICU病房，通过调查病历、直接观察的方式发现抗茵药ME。结果：10个月研究期间共发现ME301次，其中可预防药物不良事件（ADE）19次（3．3％），潜在ADE94次（16．2％）。有潜在危害ME（可预防的ADE＋潜在ADE）中有生命威胁6次（5．3％），严重88次（77．9％），明显19次（16．8％）。结论：抗茵药使用中ME经常发生，其中约1／3有潜在危害且往往带来严重后果，应该采取措施防范ME、特别是有潜在危害ME的发生。     

迟云志主任医师临证经验

1针灸配合中药外治法治疗面瘫 迟云志老师自70年代就致力于面瘫综合治疗的临床研究,目前已形成自成一体的针刺与中药外治相结合的治疗方案.曾撰写并发表了<口针治疗面神经麻痹临床观察>、<辨证分型治疗周围性面瘫的体会>等文.