Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

Objective: To investigate respiratory chain complex II deficiency resulted from mutation in succinate dehydrogenase gene (SDH) encoding complex II subunits in China. Methods: An 11-year-old boy was admitted to our hospital. He had a history of progressive psychomotor regression and weakness since the age of 4 years. His cranial magnetic resonance imaging revealed focal, bilaterally symmetrical lesions in the basal ganglia and thalamus, indicating mitochondrial encephalopathy. The activities of mitochondrial respiratory chain enzymes I−V in peripheral leukocytes were determined via spectrophotometry. Mitochondrial DNA and the succinate dehydrogenase A (SDHA) gene were analyzed by direct sequencing. Results: Complex II activity in the leukocytes had decreased to 33.07 nmol/min/mg mitochondrial protein (normal control 71.8 ± 12.9); the activities of complexes I, III, IV and V were normal. The entire sequence of the mitochondrial DNA was normal. The SDHA gene showed two heterozygous frame-shift mutations: c.G117G/del in exon 2 and c.T220T/insT in exon 3, which resulted in stop codons at residues 56 and 81, respectively. Conclusions: We have described the first Chinese case of mitochondrial respiratory chain complex II deficiency, which was diagnosed using enzyme assays and gene analysis. Two novel, compound, frame-shift mutations, c.G117G/del in exon 2 and c.T220T/insT in exon 3 of the SDHA gene, were found in our patient.     

体外培养的伯氏疟原虫红外期超微结构及其药物敏感性观察

用透射电镜观察体外培养的伯氏疟原虫红外期(Exoerythrocytic stage of Plasmodiumberghei;P.b.EE)的超微结构并测定了P.b.EE的体外药物敏感性。P.b.EE培养于单层宿主细胞内并原位固定和包埋,常规切片,观察。电镜图片显示体外培养的P.b.EE微细结构与Meis等描述的在大鼠体内发育的肝细胞内P.b.EE相似。虫体位于纳虫空泡中,虫体内可见核、线粒体、内质网、高尔基体等结构。将培养24h的P.b.EE在含一系列不同浓度的伯氨喹或氯喹的培养液中孵育48h,然后在光镜下检查,计算异常原虫的百分率。结果表明体外培养的P.b.EE对伯氨喹和氯喹的敏感性有显著差别,如在浓度1×10~(-5)mol/L时,异常原虫百分率分别为38.5±3.9％和5.7±1.9％。     

ReSTOR+3D多焦点人工晶状体临床效果观察

目的：观察ReSTOR+3D多焦点人工晶状体的临床效果。 方法：选取40例80眼年龄相关性白内障患者,按同一标准分为两组,其中双眼非同期植入ReSTOR+3D多焦点人工晶状体者20例设为MIOL组;双眼非同期植入蓝光滤过型单焦点人工晶状体者20例设为SIOL组。均行透明角膜切口超声乳化白内障摘除联合人工晶状体植入术。术后1d观察术眼的裸眼远、近视力;术后1mo观察术眼的裸眼远、近视力,矫正远、近视力,最佳远矫下近视力,对比敏感度,问卷调查视觉质量、各视觉功能区满意度及脱镜率。 结果：两组患者术后均有良好的远视力;MIOL 组患者同时获得良好的近、中程视力。术后对比敏感度MIOL组较SIOL组有所下降,但无功能性意义。MIOL 组视近脱镜率85%。 结论：ReSTOR+3D多焦点人工晶状体植入可为患者提供良好的全程视力,安全有效,满意度高。     

美托洛尔对大鼠急性心肌梗死后左心室重构的影响

目的观察美托洛尔对大鼠急性心肌梗死(AMI)后左心室重构(VR)的影响,并初步探讨其作用机制。方法将大鼠随机分为美托洛尔治疗组、模型组及假手术组。结扎美托洛尔治疗组和模型组大鼠左冠状动脉前降支,假手术组给予假手术。美托洛尔治疗组于术后24 h灌胃给予美托洛尔10 mg•kg 1•d 1,其他两组灌胃给予等量0.9%氯化钠溶液。手术4周后,采用高频彩色多普勒超声观察各组大鼠左室舒张末期内径(LVDD)、左室舒张末期容积(LEDV)、左室质量指数(LVMI)、射血分数(EF)、短轴缩短率(FS)变化,病理切片观察大鼠心肌细胞和细胞间质变化。结果与假手术组比较,模型组大鼠LVDD、LEDV、LVMI均显著增加,EF、FS等显著降低,光镜下心肌细胞肥大,间质增生明显;与模型组比较,美托洛尔治疗组LVDD、LEDV、LVMI降低,EF、FS升高,均差异有统计学意义(均P＜0.05)。结论美托洛尔对AMI大鼠左心室重构具有治疗作用,其作用机制可能与纠正血流动力学异常和神经内分泌异常、降低交感神经过度再生有关。     

三种方法测量原发性急性闭角型青光眼前房深度的研究

目的：：探讨 A 超、超声生物显微镜( ultrasonic biological microscope,UBM)及眼前节分析仪( Pentacam)测量原发性急性闭角型青光眼( acute primary angle-closure glaucoma, APACG)中央前房深度( central anterior chamber depth, ACD)的研究。方法：选取 APACG 患者35例35眼,采用 A 超、UBM 及Pentacam测量其中央ACD。结果：A超、UBM及Pentacam测量APACG的ACD值分别为1.5633±0.2089、1.5783±0.2067、1.6275±0.2296mm,结果经levene方差齐性检验方差齐,LSD-t方法进行两组间多重比较,差异具有统计学意义(F=4.074,P=0.026)。A超与 UBM、A 超与 Pentacam、UBM 与 Pentacam 的 ACD比较,差异具有统计学意义( P=0.032、0.023、0.012)。应用Bland-Altman分析显示,三种方法相互间一致性较差。结论：三种方法测得 APACG 的 ACD, Pentacam测得的结果最大,其次是UBM,A超测得的结果最小。在临床上A超、UBM及Pentacam检查具有各自不同的优势,可以相互弥补,不能取代,在临床工作中应把这三者优势结合起来,综合分析,才能得出更准确的结果。     

A combination treatment of drug-laser-photon for melasma: A retrospective study of clinical cases

Background

Combinational therapy such as taking tranexamic acid while using laser treatment has been proved potential efficacy by many experiments. However, there is few research which contains large samples and consistent observations.

Objective

We evaluated clinical efficacy and safety of a new systemic treatment of drug-laser-photon therapy.

Methods

Retrospective and randomized investigator-blinded study of 75 patients with mixed type melasma was analyzed. At each visit, standardized photographs were taken using VISIA. Modified melasma area and severity index (mMASI) scores were marked using photographs by two dermatologists.

Results

The mMASI score decreased significantly from 6.92 to 3.84 after the treatment. The VISIA analyze right cheek data shows: Spots (from 49.67 ± 3.43 to 56.09 ± 3.31), UV spots (from 41.39 ± 24.45 to 44.56 ± 25.86), and Brown spots (from 23.97 ± 17.89 to 28.16 ± 21.28) are statistically increased (p = 0.035, p = 0.018, p = 0.07). All patients feel varying degrees of improvement, about 10.17% felt very much improved, 30.51% felt much improved (51%–75%), 45.76% felt moderately improved (26%–50%), and 13.56% felt little improved (1%–25%).

Limitations

This study was no control group.

Conclusion

The efficacy and safety profile of the combination of drug-laser-photon therapy systemic treatment in melasma patients has been proved. It has potential possibility to become a new, reliable, widely suitable therapy strategy.