Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome

A patient with Weill-Marchesani syndrome and angle-closure glaucoma had persistent appositional closure after laser iridotomy that was unrelieved by topical application of either miotic or cycloplegic agents. Argon laser peripheral iridoplasty successfully opened the angle. The patient's sister also had Weill-Marchesani syndrome and angle closure unrelieved by laser iridotomy. Angle closure in Weill-Marchesani syndrome and the response to laser iridotomy and treatment with either miotic or cycloplegic agents may be complex and depends on the relative proportion of pupillary block as a mechanism underlying the angle closure, the functional status of the zonular apparatus, and the degree of angle crowding by the peripheral iris in the presence or absence of peripheral anterior synechiae.     

Fukuyama Type Congenital Progressive Muscular Dystrophy

Clincopathological features of Fukuyama type congenital muscular dystrophy (FCMD), a combination of brain malformation and muscular dystrophy with facial muscle and CNS involvement and high prevalence in Japan, are reviewed. Evidence of progressive dystrophy, negative correlations between muscle enzyme levels and age and CT numbers of muscle and age, are presented. Skeletal muscle histopathology is reviewed. Febrile illness-induced transient exacerbation of muscle weakness is reported. Characteristic brain malformations, e.g. micropolygyria, other dysgenesis, are reviewed. Their severity correlated with maximal mental and motor function. The etiology and significance of low density areas (LDA) in white matter on CT, possibly reflecting delayed or abnormal myelination, and ventricular dilatation are discussed. Spontaneous LDA improvement makes hydrocephaly unlikely. Ophthalmological differential diagnosis from Santavouri disease and Walker-Warburg syndrome, characterized by visual disturbance/glaucoma and microphthalmia/anterior chamber defects, respectively, is discussed. A single defective gene, manifesting as a metabolic error, may produce CNS and ocular defects as well as muscle degeneration in FCMD.     

北京市朝阳区南部医联体2型糖尿病患者DR患病率及相关因素分析

目的：了解北京市朝阳区南部医联体2型糖尿病患者糖尿病视网膜病变(DR)的患病情况,并分析其危险因素。

方法：于2016-11/2017-11采用分层整群随机抽样法从北京市朝阳区南部医联体社区卫生服务中心的居民健康档案中随机抽取40岁及以上的2型糖尿病患者840例作为研究对象。收集患者的临床资料、体格检查、血液检查结果,并对所有患者进行散瞳眼底检查。

结果：北京市朝阳区南部医联体40岁及以上2型糖尿病患者DR患病率为35.7%,其中轻、中、重度非增殖期和增殖期DR患病率分别为68.3%、12.3%、5.0%、14.3%。年龄、糖尿病病程、胰岛素治疗、HbA1c、合并糖尿病足是DR发生的独立危险因素。

结论：该地区DM患者DR患病率较高,社区医生在定期对糖尿病患者进行随访时,不仅应该敦促患者严格控制血糖、定期检测HbA1c,还应给予低龄、糖尿病病程长、胰岛素使用及合并糖尿病足的患者特别关注。     

黏附分子在Graves眼病眼外肌原位表达的研究

目的 研究Grvaes眼病患者眼肌中胞间黏附分子－1（intercellular adhesion molecule-1,ICAM-1)和血管细胞黏附分子－1（vascular cell adhesion molecule-1,VCAM-1)的表达。方法 采用免疫组织化学双重染色方法对16例严重Grvaes眼病患者的眼外肌冰冻组织切片进行光学显微镜观察。结果 ICAM－1在眼外肌束膜结缔组织、单核细胞、成纤维细胞和血管内皮细胞中表达；VCAM－1在血管内皮细胞中表达；眼外肌细胞无该两种黏附分子的表达。结论 ICAM－1和VCAM－1参与Grvaes眼病的病理发生过程；成纤维细胞、血管内皮细胞和单核细胞在自身免疫反应中起着重要作用。     

NDRG2 in rat liver regeneration: Role in proliferation and apoptosis

Liver regeneration is a complex process that is orchestrated by the precise interplay of cell proliferation, differentiation control, and molecular pathways, but this complicated molecular signaling network is not fully understood. In this study, we showed that N‐Myc downstream‐regulated gene 2 (NDRG2) is involved in this process. The mRNA and protein levels of NDRG2 were strongly reduced when liver regeneration reached a peak of activity. In addition, we found that rat NDRG2 expression and C‐Myc expression were inversely correlated during this process. A low level of NDRG2 was observed as the C‐Myc expression increased during regeneration. Moreover, a dramatic cell cycle arrest was found in normal rat liver‐derived BRL cells 48 hours after being infected by adenoviral vectors expressing rat NDRG2. Meanwhile, the apoptotic rates were increased from 9.4% in control group to 64.7% in adenoviral vectors expressing rat NDRG2 group. These phenomena could also be observed in BRL 3A and L‐02 cells. Further analysis revealed that NDRG2 overexpression may mediate the antiproliferative effect by inducing p53 and p21 regulated Bax/Bcl‐2 increase and cyclin E‐Cdk2 inhibition. In conclusion, our findings point to physiological roles for NDRG2 in liver regeneration.     

Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophya

Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early‐onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late‐onset Fuchs corneal dystrophy (FCD), a common age‐related disorder, were also reported to harbor heterozygous mutations at this locus. We therefore tested the hypothesis that SLC4A11 contributes to FCD and asked whether mutations in SLC4A11 are responsible for familial cases of late‐onset FCD. We sequenced SLC4A11 in 192 sporadic and small nuclear late‐onset FCD families and found seven heterozygous missense novel variations that were absent from ethnically matched controls. Familial data available for one of these mutations showed segregation under a dominant model in a three‐generational family. In silico analyses suggested that most of these substitutions are intolerant, whereas biochemical studies of the mutant protein indicated that these alleles impact the localization and/or posttranslational modification of the protein. These results suggest that heterozygous mutations in SLC4A11 are modest contributors to the pathogenesis of adult FCD, suggesting a causality continuum between FCD and CHED. Taken together with a recent model between FCD and yet another early onset corneal dystrophy, PPCD, our data suggest a shared pathomechanism and genetic overlap across several corneal dystrophies. Hum Mutat 31:1–8, 2010. © 2010 Wiley‐Liss, Inc.     

非动脉炎性前部缺血性视神经病变患者的 血浆内皮素-1浓度的变化

目的观察非动脉炎性前部缺血性视神经病变（NAION）患者血浆内皮素-1(ET-1))浓度变化，探讨ET-1与NAION的关系。方法通过放射免疫法(RIA)测定41例NAION患者及年龄相匹配的15例非病变对照者血浆ET-1水平。将NAION患者按视盘水肿程度分为重度水肿组、轻度水肿组、水肿消退组3组；并根据病程分为发病14 d内（病程1组）、15～30 d（病程2组）、31～60 d（病程3组）和61～180 d（病程4组）等4组。对比分析不同性别、视盘水肿程度以及病程的NAION患者血浆ET-1水平。结果NAION患者比对照者血浆ET-1水平增高（t=5.02，P＜0.05）。不同性别NAION患者血浆ET-1水平无明显差异。视盘水肿程度不同组间血浆ET-1水平差异有统计学意义（F=4.65，P＜0.05）；血浆ET-1水平随病程延长逐渐下降，不同病程组间血浆ET-1水平差异有统计学意义(F=4.29，P＜0.05)；病程1、2、3组与对照组血浆ET 1水平比较，差异也有统计学意义(t₁=5.92，t₂=3.47，t₃=2.18， P₁<0.01, P₂<0.05, P₃<0.05)结论NAION患者血浆ET-1水平可能与视盘损害程度和病程长短相关联。(中华眼底病杂志,2005,21:156-158)     

蝮蛇抗栓酶对人翼状胬肉成纤维细胞增殖效果的影响

目的：研究国产蝮蛇抗栓酶(ahylysautiufarctetase，AF)对体外培养的人翼状胬肉成纤维细胞(human pterygium fibroblasts，HPF)增殖效果的影响。方法：采用切除的翼状胬肉组织进行体外成纤维细胞培养，将传代的第4～第6代人翼状胬肉成纤维细胞与不同浓度的蝮蛇抗栓酶(0．1U／rnl～0．00256U／ml)分别处理48h，并设对照组，通过噻唑兰比色法(MTT法)，在酶联免疫测定仪上测570nm处吸光值，计算出在不同浓度AF条件下的净增抑制率。结果：AF在0．04U／ml以上使细胞增殖率显著下降；当AF浓度为0．1U／ml时，其细胞增殖抑制率达91．74％左右，镜下很少见到正常活性细胞。AF在0．00256U／ml以上使部分细胞生长受影响。其50％抑制率浓度(ID50)为0．016U／ml。结论：AF对HPF增生有抑制作用，并且其抑制作用呈剂量依赖型，但在高浓度(≥0．1U／ml)时可能存在细胞毒性作用。     

眼部缓释制剂的应用研究进展

本研究概述了眼用药物的药代动力学特点，指出了目前眼用制剂的缺点，并介绍了目前5种较为新型的眼用缓释制剂：含粘附剂的眼部给药系统、亲水凝胶、脂质体、微球和毫微球及植入剂，讨论了其药代动力学特征及临床应用的前景。     

A study on the radiation tolerance of the optic nerves and chiasm after stereotactic radiosurgery

PURPOSE: To evaluate the risk of clinically significant radiation optic neuropathy (RON) for patients having stereotactic radiosurgery of benign tumors adjacent to the optic apparatus. METHODS AND MATERIALS: We reviewed the dose plans and clinical outcomes of 218 gamma knife procedures (215 patients) for tumors of the sellar and parasellar region (meningiomas, n = 122; pituitary adenomas, n = 89; craniopharyngiomas, n = 7 patients). Previous surgery or radiation therapy was performed in 156 (66%) and 24 (11%) patients, respectively. Median follow-up was 40 months (range 4-115). RESULTS: The median maximum radiation dose to the optic nerve was 10 Gy (range 0.4-16.0). Four patients (1.9%) developed RON at a median of 48 months after radiosurgery. All had prior surgery, and 3 of 4 had external beam radiotherapy (EBRT) in their management either before (n = 2) or adjuvantly (n = 1). The risk of developing a clinically significant RON was 1.1% for patients receiving 12 Gy or less. Patients receiving prior or concurrent EBRT had a greater risk of developing RON after radiosurgery (p = 0.004). CONCLUSION: RON occurred in less than 2% of our patients, despite the majority (73%) receiving more than 8 Gy to a short segment of the optic apparatus. Knowledge of the dose tolerance of these structures permits physicians to be more aggressive in treating patients with sellar or parasellar tumors, especially those with hormone-producing pituitary adenomas that appear to require higher doses to achieve biochemical remission.