1例Costello综合征的临床表现

Objective: To observe the clinical characteristics of Costello syndrome. Methods：the clinical characteristics and gene mutation types of one child with Costello syndrome were analyzed. The key words of Costello syndrome, Costello syndrome and HRAS were searched and analyzed. Results: all the children showed some special facial features, growth retardation and heterozygous mutation of HRAS gene. After diagnosis, all patients were treated with growth hormone and medical treatment. It was found that the clinical characteristics of Costello syndrome reported at home and abroad were similar to the child in our case. The main clinical manifestations of Costello syndrome were special features, heart system disease, short stature and mental retardation, with tumor susceptibility. Conclusion: the incidence rate of Costello syndrome is extremely low, involving multiple system diseases. Special signs and HRAS gene sequencing are helpful for the diagnosis of the disease.     

Costello综合征1例报告

1 病例资料 患儿女,8岁.因"自幼双眼睫毛过长"来我院眼科就诊.眼部检查:患儿双眼角膜明,瞳孔等大、等圆,晶状体透明,视网膜正常;眼压正常;角膜映光:正位;交替遮盖:不动;未发现眼球震颤;双眼眼球运动良好.双眼视力均为0.8,双眼睫毛长且乱生(图1A).出生及疾病史:第2胎,足月顺产,出生顺利;否认吸氧史,否认心脑血管疾病史.家族史:无特殊,父母非近亲结婚,有 1 位13岁胞姐,父母及胞姐均身体健康.体格检查:患儿身高125 cm,体重40 kg;头围 52 cm,头发稀疏、卷发 (图1B);高前额,眼距宽,低耳位,鼻梁塌,唇厚嘴 大;全身皮肤粗糙(图1C),掌跖部皮纹深大.     

不同浓度葡萄糖对大鼠胰岛β细胞胰岛素基因表达的影响

胰岛素生物合成与胰岛素mRNA水平密切相关，通过检测胰岛细胞中胰岛素mRNA水平，可观察β细胞的功能状态。胰岛素基因表达受营养物质、神经递质、内分泌激素、细胞因子等调控，葡萄糖则是其主要生理调节剂。本实验旨在探讨各种不同浓度葡萄糖对大鼠胰岛β细胞胰岛素基因表达的影响，从而阐明非生理浓度葡萄糖在胰岛β细胞功能损害中的作用。     

大鼠胰岛制备用于同种异体移植的初步研究

目的:建立一种实用可靠的大鼠胰岛制备方法,并研究胰岛在体内外的生物学活性。方法:采用胶原酶溶液经胆总管原位灌注胰腺,于37℃水浴静止消化30min,过滤法纯化胰岛,经体外形态及功能鉴定后,移植于链脲佐菌素(STZ)诱导的糖尿病大鼠肾包膜下,术后动态观察血糖。结果:平均每只大鼠胰腺消化后可获得(1024±156)个胰岛,纯化后收获最(867±104)个胰岛,活率≥95％。该法制备的胰岛形态结构完好,体外胰岛素释放试验表明其功能良好。5例进行同种异体移植糖尿病大鼠在移植后24～72h血糖均降至正常,完全缓解率100％,胰岛有功能存活时间(6.60±2.07)天。实验组口服葡萄糖耐量试验曲线与正常组相似。结论:此种移植物制备技术简便、可靠,效果满意,经体外和体内实验证明获得的胰岛功能良好。但是需要进一步研究防治移植排斥反应的措施。     

胰升糖素样肽-1对胰岛β细胞胰岛素基因表达的调节作用

目的 研究不同浓度胰升糖素样肽-1（GLP-1）对大鼠胰岛β细胞胰岛素基因表达的影响，探讨GLP-1在2型糖尿病治疗中的作用。方法 不同刺激浓度的GLP-1（0nmol／L、1nmol／L、10nmol／L、10^2nmol／L、10^3nmol／L）与葡萄糖浓度分别为2．2mmol／L、5．5mmol／L、11.1mmol／L的RPMI1640营养液共培养24h后，提取细胞总RNA，运用半定量RT-PCR技术检测胰岛素基因表达的变化。结果 葡萄糖浓度为2．2mmol／L和5．5mmol／L时，随GLP-1浓度升高，胰岛素基因表达量呈钟型方式升高；葡萄糖浓度为11．1mmol／L时，随GLP-1浓度升高，胰岛素基因表达量呈浓度依赖性升高。结论 GLP-1以葡萄糖依赖和浓度依赖方式促进胰岛素基因的表达。     

脉络膜新生血管经TTT治疗前后微视野变化

目的 应用微视野检查技术评价经瞳孔温热疗法（TTT）治疗脉络膜新生血管（CNV）前后的视功能变化.方法 12例13只经荧光素眼底血管造影证实有CNV的年龄相关性黄斑病变（AMD）和高度近视患眼,在接受TTT治疗前后分别行微视野检查.结果 TTT治疗前,6眼有相对暗点,7眼有绝对暗点.治疗后与治疗前相比较,6眼TTT前检出相对暗点的患眼中,治疗后视力提高者4眼,1眼视力下降,1眼视力无明显变化;6眼中5眼TTT治疗后激光照射处视网膜的光敏度提高,1眼降低.所有被检出有绝对暗点的患眼治疗后视力均无明显变化,视网膜的光敏度不变.结论 微视野检查能客观评估TTT治疗CNV的疗效.     

EFFECT OF FUNDUS PIGMENT ON RESPONSE OF RABBIT RETINA TO TRANSPUPILLARY THERMOTHERAPY

Objective To study the effect of fundus pigment on the response of the retina to transpupillary thermotherapy （TTT）. Methods The retina were irradiated with 810 nm diode laser in 16 eyes of 8 pigmented rabbits and 12 eyes of 6 albino rabbits. The spot size was 1.2 mm; the duration was 60 s; and powers were 50, 80, 150 and 300 mW for pigmented rabbits and 800, 1 200 and 1 500mW for albino rabbits. All of the eyes were followed up with ophthalmolscope. The fundus was photographed and examined histologically with optic microscope immediately and 1 month after TTT respectively. Results The changes of the fundus and the histological examination were not significant immediately and 1 month after TTT in 50 mW group of pigmented rabbit and 800 mW of albino rabbit. Grey spot on the retina was observed on the fundus in 80 mW group of pigmented rabbit and 1 200 mW of albino rabbit immediately after TTT. The structure of the retina remained intact and subretinal fluid was observed histologically. Grey spot was still visible on the fundus, though the fluid was absorbed after 1 month. As the power of diode laser was increased to 150 mW for pigmented rabbits and 1500 mW for albino rabbit, fundus white spots were observed and the outer retina was destroyed while photoreceptors existed immediately after TTT. Pigmentation was found in white lesions and the fibrous proliferation was found in choroid 1 month after TTT. Prominent white spot was seen on the fundus immediately after laser irradiation of 300 mW in pigmented rabbits and the structure of the retina was obscured. One month after TTT, dense pigmentation appeared at laser lesions. The retina was thinner. There was prominent fibrous proliferation in the choroid. Conclusion The fundus pigment seems to play an important role in the response of the retina to TTT. The reaction of the retina is in proportion to the intensity of laser.     

瘦素对大鼠胰岛细胞胰腺-十二指肠同源盒基因-1表达的调节作用

目的:研究不同浓度瘦素对大鼠胰岛细胞PDX-1基因表达的影响,在基因转录调节因子水平探讨其在肥胖2型糖尿病发病中的作用。方法:不同刺激浓度瘦素(0 ng.mL-1、10 ng.mL-1、25 ng.mL-1、50 ng.mL-1、102ng.mL-1、103ng.mL-1)与葡萄糖浓度分别为2.2 mmol.L-1、5.5 mmol.L-1、11.1 mmol.L-1的RPM I1640营养液共培养24 h后,提取细胞总RNA。运用RT-PCR技术检测PDX-1基因表达的变化。结果:葡萄糖浓度为2.2 mmol.L-1、5.5 mmol.L-1、11.1 mmol.L-1时,各种浓度的瘦素对PDX-1基因的表达均无明显影响。结论:瘦素对PDX-1表达无明显调节作用。     

特发性息肉样脉络膜血管病变1例

患者,女,70岁,因左眼前黑影3月就诊.眼部检查:左眼视力1.0( 3.0D),视盘上方黄白色病灶,局部隆起,伴视网膜下出血,轻隆起,动脉极细,余视网膜色泽可.荧光素眼底血管造影(Fundus Fluorescein Angiogaphy,FFA)显示:左视盘鼻上、颞侧及上缘早期大片低荧,随时间延长低荧区内见片状淡薄荧光,视盘上缘呈强荧光,视盘鼻侧斑点状强荧光(图①).药物保守治疗.