Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.     

外伤性白内障人工晶状体植入术临床观察

目的 评价外伤性白内障人工晶体植入的疗效及问题。方法 对56例外伤性白内障人工晶体植入术后进行回顾性研究。结果 术后矫正视力≥0.5者48眼,占85.7%;0.1-0.4者6眼,占10.7%;0.1以下者2眼,占3.6%。结论 利用显微手术方法,使用粘弹剂,控制眼内炎症,选择好手术时机,可使手术效果满意。     

道诺霉素抑制视网膜色素上皮细胞炎前因子的表达

目的　观察道诺霉素对视网膜色素上皮细胞细胞(RPE)炎前因子表达的影响 .方法　培养的人 RPE经 IL- 1β(10μg· L- 1 )刺激以及不同浓度的道诺霉素作用后 ,用EL ISA、免疫组化和原位杂交等方法 ,检测培养的人 RPE炎前因子 m RNA和蛋白质的表达 .结果　 EL ISA显示对照组培养 RPE在 IL- 1β刺激 8h后 ,上清中 IL- 6与 IL- 8分别为2 0 0 0 pg· m L- 1· 10 - 6 cells和 5 0 0 0 pg· m L- 1· 10 - 6 cells.使用 10 0 μg·L- 1 道诺霉素作用于培养的 RPE后 IL- 6与 IL-8分别为 180 pg· m L- 1 · 10 - 6 cells (P <0 .0 1)和 32 0pg· m L- 1· 10 - 6 cells(P<0 .0 1) .免疫组化和原位杂交亦显示不同浓度道诺霉素可以不同程度地抑制 RPE内炎前因子蛋白质与 m RNA的表达 .结论　道诺霉素能有效地抑制 IL -1β诱导的培养的 RPE IL - 6和 IL - 8的表达     

胆汁泡蛋白ELISA检测法的建立与初步临床应用

目的 建立胆汁泡蛋白快速检测法,筛选有效的胆石症防治手段。方法 获取３３．５ｋｄ胆汁泡蛋白,通过微量抗原免疫法获得高效价抗体,建立ＥＬＩＳＡ标准曲线;并应用ＥＬＩＳＡ法测定正常人、胆石症患者胆汁和血清中泡蛋白含量,同时观察不同溶石防药和利胆冲剂、胆酸钠等对泡蛋白的影响。结果 建立了ＥＬＩＳＡ标准曲线,其曲线方程为Ｙ＝０．０３５Ｘ（ｒ＝０．９９）;正常人胆汁和血清中３３．５ｋｄ泡蛋白含量都明显较胆固     

36例眼部枪弹伤临床分析

[背景 ]观察枪弹及弹壳伤对眼部损害程度及治疗手段 .[病例报告 ]本组 36例 40眼枪弹伤中(有 5例 5眼为弹壳伤 ) ,火枪、猎枪的铁砂弹及弹壳伤 2 1例 2 5眼 (6 0 % ) ,气枪子弹铅弹伤 10例 10眼(2 7% ) ,玩具枪塑料弹伤 5例 5眼 (13% ) .选择手术治疗 2 5例 2 9眼 (6 9% ) ,药物治疗 11例 11眼(31% ) .治疗结果视力提高 0 1以上为 10例 ,总有效率为 2 7% .[讨论 ]枪弹伤严重损害眼部 ,双眼致盲2例 4眼 ,单眼致盲 14例 14眼 (包括摘除眼球 4例 4眼 ) .     

氟康唑治疗真菌性角膜溃疡的临床观察

目的 :观察氟康唑治疗真菌性角膜溃疡的疗效。方法 :采用局部或全身应用氟康唑 ,治疗真菌性角膜溃疡 42眼。结果 :治疗组 42眼 ,治愈 3 1眼 ,治愈率 73 .8% ,疗程 1 0～ 2 6d,平均 1 4d;对照组 2 3眼 ,治愈 1 0眼 ,治愈率 43 .4% ,疗程 1 4～ 1 8d,平均 2 8d。两组治愈率有显著性差异 (P<0 .0 5 )。结论 :氟康唑是目前治疗真菌性角膜溃疡疗效较好的药物。     

人工义眼台治疗眼窝凹陷畸形23例

目的;观察眼球摘除后羟基磷灰石义眼台植入物眼窝成形术的疗效。方法：采用巩肛 埋羟基磷灰石义眼台做为眼球摘除术后眼窝成形的填充物,观察２３例成形效果。结果：患者获得良好的义眼运动,术后并发症少,效果满意。结论：羟基磷灰石义眼台适合各种眼窝凹陷畸形患者的整形。     

反义PCNA与反义bcl-2脱氧寡核苷酸抑制人视网膜色素上皮生长

目的　观察反义增生细胞核抗原 (PCNA)和反义 bcl-2脱氧寡核苷酸对培养的人视网膜色素上皮细胞 (RPE)生长的作用 .方法　用 DNA合成仪合成有 1 8个核苷酸的反义PCNA和 1 5个核苷酸的反义 bcl- 2脱氧寡核苷酸片段 ,以不同浓度加入 RPE培养液 ,培养 2～ 4d,用 SABC法检测细胞PCNA和 bcl- 2的表达 ,用 MTT法及流式细胞仪测定细胞抑制率 .结果　 6 .2 5～ 1 0 0μm ol· L- 1 的反义 PCNA对 RPE的抑制率为 8.3%～ 38.4% ,呈剂量依赖性 ,并抑制细胞 PCNA的表达 .反义 bcl- 2未显示抑制作用 .结论　反义 PCNA脱氧寡核苷酸可抑制近 40 %的 RPE生长 ,其临床应用值得进一步研究     

Suppression of electroencephalogram Δ power density during non-rapid eye movement sleep as a result of a prolonged cognitive task prior to sleep onset

The effects of a prolonged cognitive task prior to sleep onset on subsequent sleep patterns were examined in 14 healthy subjects who were randomly assigned to two conditions. Those assigned to a working condition were asked to engage in a prolonged cognitive task until close to bedtime (0200 hours), whereas those assigned to a relaxing condition were instructed to perform the same task during the daytime and then to stay awake in a relaxed state until the same bedtime as the work group. Visual scoring of sleep stages showed no significant differences in the amounts of stage 4 and slow wave sleep (stage 3+4) between the two conditions. Power spectrum analysis of sleep electroencephalogram (EEG) revealed that the EEG (0.5–4.0 Hz) power density in the first non-rapid eye movement (REM)-REM sleep cycle was significantly lower following the prolonged cognitive task prior to sleep onset than following the relaxed wakefulness and that the decreased EEG power density in the first sleep cycle was not compensated for during the later part of the sleep. These findings would indicate that the prolonged cognitive task prior to sleep onset may suppress EEG power density during subsequent sleep, suggesting that such a task may interfere with the development of deep non-REM sleep.     

Comparison of autonomic function using Valsalva ratio and 30:15 postural ratio prior to and after haemodialysis treatment

In published studies of chronic haemodialysis patients, the frequency of autonomic dysfunction varies widely. One reason for the variation may be the time of testing with respect to time of dialysis. The current study tests the hypothesis that autonomic function — as measured by heart rate responses to the Valsalva manoeuvre (Valsalva ratio) and 30:15 electrocardiogram (ECG) R—R interval to upright posture (postural ratio) — is different when patients are above dry weight (predialysis) than when they are at or below dry weight (postdialysis). The study also reviews available literature to analyze other factors that may affect the results of autonomic testing in this population. A total of 25 chronic haemodialysis patients underwent standard Valsalva and 30:15 R—R interval postural autonomic testing prior to and after haemodialysis. In addition, pre- and postdialysis orthostatic responses were measured and compared with a control population. The 30:15 ratio increased after dialysis (p = 0.001). The Valsalva ratio did not change with dialysis. Out of 25 subjects, seven had an abnormal 30:15 ratio prior to dialysis decreasing to two out of 25 patients postdialysis (p < 0.03). Orthostatic responses predialysis did not differ from those in the control group. Review of the literature shows great variability in definition of normal Valsalva and postural (30:15 R—R interval) ratios. Diabetic patients in the current and prior studies were more likely to have abnormal responses. In conclusion, the prevalence of autonomic dysfunction in chronic dialysis patients as determined by Valsalva and 30:15 ECG postural ratios may be influenced by the following factors: when subjects are studied with respect to their dialysis treatment; the number of subjects with diabetes; and the cut-off point used to define abnormal test results. Abnormal Valsalva ratios are less frequent when measured postdialysis.