伴中性粒细胞浸润的色素性荨麻疹

报告1例伴中性粒细胞浸润的色素性荨麻疹．患儿女,5岁。躯干、四肢色素沉着斑伴瘙痒1年余．体格检查示躯干、四肢广泛分布大量色素性斑片及少量红斑、抓痕．组织病理检查示真皮内大量中性粒细胞浸润及核尘,未见血管纤维素样坏死．高倍镜下见血管周围较多肥大细胞浸润．诊断为伴中性粒细胞浸润的色素性荨麻疹。     

视网膜色素变性中医治疗及研究进展

视网膜色素变性(retinitis pigmentosa,RP)是一类以进行性感光细胞和色素上皮细胞功能障碍为特征的遗传性疾病,是世界范围内常见的致盲性眼病且至今缺乏有效的治疗方法。作者总结了近5年来中医治疗视网膜色素变性临床及实验研究进展,并提出了中医治疗视网膜色素变性的展望和面临的挑战。     

偶发型视网膜色素变性患者CD4+ CD25+调节性T细胞检测

目的 检测偶发型视网膜色素变性(Retinitis Pigmentosa RP)患者外周血中CD4+ CD25+ 调节性T细胞的比例,以观察该病病变过程中是否存在自身免疫因素.方法 临床实验研究.对2007年9月至2009年8月在中山大学附属第三医院眼科抽取3年内病程偶发型RP患者(19例)、3～5年内病程偶发型RP患者(15例)和健康人(22人)外周静脉血.用流式细胞术检测外周血CD4+ CD25+ Treg细胞比例.结果 3年内病程偶发型RP患者外周血CD4+ CD25+ Treg细胞比例(9.41±4.87)%显著低于健康人外周血CD4+ CD25+ Treg细胞比例(13.53±6.28)%,(t=2.795,P<0.05),差异有统计学意义.3～5年内病程偶发型RP患者外周血 CD4+ CD25+ Treg细胞比例(11.17±4.90)%与3年内病程偶发型RP患者及健康人外周血 CD4+ CD25+ Treg细胞比例比较(t值分别为2.795和1.200,P值分别为0.196和2.41,P>0.05),差异无统计学意义.结论 发病早期偶发型RP患者外周血中CD4+ CD25+ Treg存淋巴细胞中所占的比例降低,提示在该病早期存在自身免疫现象,为对该病进行免疫学治疗提供了线索.

Abstract：

Objective To detect ratio of CD4+ CD25+ regulatory T cell in blood of the patients with sporadic type retinitis pigmentosa (RP).Methods Experimental Stndy Peripheral blood of 19 sporadic type RP patients with 3 years course, 15 sporadic type RP patients with 5 years course, and 22 healthy people were collected.The ratio of CD4+ CD25+ T cell was determined by flow cytometry.Results The ratio of CD4+ CD25+ T cell in sporadic type RP patients with 3 years course (9.41± 4.87)% was far lower than that in healthy controller (13.53± 6.28)%, t =2.795, P <0.01.There was no significant difference among the ratio in RP patients with 3～5 years course, in RP patients with less than 3 years course or in healthy controllers.Conclusions The ratio of CD4+ CD25+ T cell in the patients of sporadic type RP decreases in the early stage, mentioning autoimmune factor in the onset of the disease, that provides clue for immunological treatment.     

Red glasses and visual function in retinitis pigmentosa

As a consequence of animal studies reduction of the light regimes have been tried on patients with retinitis pigmentosa. The trials have been very limited and have not given reason for hope that such reduced light therapy may be beneficial. However, RP patients trying red glasses have reported acute subjective improvement of their visual function. It was the purpose of this study to try to document the reports more objectively. Five visual functions were tested with and without red glasses with the following results: 1. Visual acuity and contrast sensitivity. For one volunteer a small reproducible improvement was found. 2. Color vision. In most cases deterioration was found of already deficient color vision. 3. Visual fields. For volunteers with relatively preserved vision no difference or slight deterioration was found. For the other volunteers slight improvements were found. 4. Intraocular light scatter. No differences were found. 5. Dark adaptation. Improvements were found when the glasses were used as adaptation aid according to the method of Trendelenburg (rod function). For cone function no difference was found upon continuous wearing of red glasses.In conclusion: use of red glasses does not seem to be of great benefit as a rule. On the other hand, apart from the reduction in color discrimination no serious disadvantages seem to be inherent in their wear by RP patients.     

视网膜色素变性磁共振扩散张量成像研究及其与视野相关性分析

目的　使用磁共振扩散张量成像技术（DTI）研究视网膜色素变性（RP）患者的视神经改变及其与视野检查的相关性。方法　46例RP患者（RP组）和46例健康对照志愿者（对照组）进行了前瞻性研究。所有受试者进行3.0T MRI-DTI扫描检测,使用简化的小视野扩散张量成像（rFOV-DTI）序列推导出单个视神经的各向异性（FA）、平均弥散系数 （MD）、平行扩散系数（λ//）、垂直扩散系数（λ⊥）,获得平均分数FA、平均扩散率和特征值图,用于定量分析。进一步分析视野平均偏差（MDVF）与患者的分数FA、平均扩散率、λ//及λ⊥的相关性。结果　RP组与对照组受试者间年龄和体质量等差异均无统计学意义（均为P>0.05）,而两组之间最佳矫正视力和MDVF差异均具有统计学意义（均为P=0.000）。与对照组相比,RP组患者视神经FA降低,MD、λ//、λ⊥升高,两组之间差异有统计学意义（P<0.001）。RP组患者两侧视神经的FA、MD、λ//和λ⊥与MDVF行相关性分析,视神经FA及λ⊥与MDVF有显著相关性（右侧:r=-0.864、0.719,均为P<0.001;左侧:r=-0 .997、r=0.830,均为P<0.001）;MD与MDVF不相关（右侧:r=-0.026,P=0.866;左侧:r=-0.115,P=0.445）。结论　rFOV-DTI测量值可用于RP患者视神经轴突和髓鞘病变的早期诊断。     

1例X连锁型视网膜色素变性家系的分子遗传学研究

目的 对1例来自云南省的X连锁型视网膜色素变性家系进行相关分子遗传学研究.方法 在本研究小组前期工作中对该家系已初步确定的X连锁型遗传位点--RP2和RP3处选取具有高信息量的9个微卫星位标进行精细单倍型分析.在定位的候选基因RP3基因即RPGR基因上,使用构象敏感凝胶电泳(conformation sensitive gel electrophoresis, CSGE)的方法对其1～14号外显子进行突变筛选的同时对已有报道的突变热点区--外显子ORF15进行直接测序以寻找致病突变.结果 通过精细定位扫描及相关单倍型分析,将该例家系的致病基因定位在RP3位点.RPGR基因1～14号外显子经CSGE的方法进行突变筛选,未发现有异常电泳条带;通过直接对突变热点区外显子ORF15的测序,在该例家系中检测到1个在国内外均有报道的热点突变:g.ORF15 483_484delGA.结论 g.ORF15 483_484delGA移码突变导致了该家系产生X连锁型视网膜色素变性.     

结晶样视网膜色素变性的荧光素眼底血管造影特点分析

目的分析结晶样视网膜色素变性的荧光素眼底血管造影(FFA)特点,进一步探索其发病机制。设计回顾性病例系列。研究对象结晶样视网膜色素变性患者。方法北京同仁医院眼科中心2004～2006年门诊诊断的结晶样视网膜色素变性患者32例。所有患者均行FFA检查。主要指标FFA表现。结果全部患者FFA显示后极部斑驳状、点状透见荧光。背景荧光部分增高,部分减弱。视盘高荧光或部分高荧光8例。2例环以低荧光。动脉血管变细18例,但其中仅3例出现血管充盈迟缓。4例视网膜血管闭塞,且全部位于周边部。3例视网膜后极部血管渗漏。仅1例出现无灌注区。6例黄斑拱环结构破坏或结构不清。结论结晶样视网膜色素变性的FFA特点显示:其病变主要是视网膜色素上皮细胞改变和脉络膜毛细血管的萎缩,同时累及神经视网膜及其视网膜血管组织。     

神经营养因子治疗视网膜色素变性的研究进展

神经营养因子是能够促进神经元存活、生长、分化及维持其功能的多效性肽类因子的总称,可被作为有效的神经保护剂用于治疗多种神经变性类疾病.视网膜色素变性(RP)是以光感受器-视网膜色素上皮复合体损害为主的高度遗传异质性视网膜变性疾病,神经营养因子作为不针对致病基因的RP治疗策略,其疗效已在多种视网膜变性的动物模型中得到证实.以病毒为载体的转基因治疗和细胞包囊技术为神经营养因子提供了有效的给药途径,可使疗效明显提高.对神经营养因子在视网膜中的表达及其调节、受体分布特点、作用通路、疗效及副作用等方面的深入研究为神经营养因子的临床应用奠定了基础.     

枸杞子-丹参对小鼠视网膜Caspase-12前体、Caspase-2表达的影响

目的 观察枸杞子-丹参对rd10小鼠视网膜Caspase-12前体、Caspase-2表达的影响.方法 将40只rd10小鼠随机分为5组,空白组灌胃生理盐水;对照组灌胃维生素A溶剂;枸杞组灌胃枸杞子中药超微配方颗粒溶液;丹参组灌胃丹参中药超微配方颗粒溶液;枸杞加丹参组(杞参组)灌胃枸杞子加丹参中药超微配方颗粒溶液;8只...     

A case of Creutzfeldt-Jakob disease related to familial retinitis pigmentosa patients

Similarities between serological alterations and retinal degeneration occurring in natural and experimental CJD and in some forms of human retinal degeneration have recently been reported. In the present paper a family from an areal focal accumulation of CJD in Central Slovakia with 1 histopathologically verified case of Creutzfeldt-Jakob disease and 2 case of retinitis pigmentosa is described. Neuropathological and epidemiological data obtained in investigated patients are discussed from the point of view of a possible relationship between the slow virus infections caused by unconventional agents and degenerative disease affecting the ocular system.