Brain gliomas,hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1

PurposeTo evaluate the incidence and clinical importance of brain gliomas – optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis.Subjects and methodsWe analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery.ResultsWe have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). GOOPs were significantly more often treated than OPGs (p > 0.01). OPGs contain clinically important subgroup of 14/285 (4.9%) spreading to hypothalamus. Spontaneous regression was documented in 4/285 (1.4%) gliomas and the same number of NF1 children died due to gliomas.Obstructive hydrocephalus was found in 22/285 (7.7%) patients and 14/22 cases were due to glioma. Idiopathic aqueduct stenosis caused hydrocephalus in 6/22 cases and was found in 2.1% of NF1 children. Two had other cause.ConclusionsThe total brain glioma number (OPGs and only GOOPs together) better reflected the overall brain tumour risk for NF1 children. However, GOOPs occur less frequently than OPGs, they are more clinically relevant. The obstructive hydrocephalus was severe and featuring frequent complication, especially those with GOOP. Idiopathic aqueduct stenosis shows an unpredictable cause of hydrocephalus in comparison with glioma and is another reason for careful neurologic follow up.     

Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development?

Objectives: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated with multiple sclerosis. It is thought that CETP, SIRT1, FGFR2, STAT3, VEGFA and IL6 genes play a key role in this autoimmune inflammatory disease. The aim of our study was to determine if the frequency of the CETP, SIRT1, FGFR2, STAT3, VEGFA and IL6 gene polymorphisms have an influence on the development of acute ON.

Methods: The study enrolled patients with ON and a random sample of healthy population. The genotyping test of the CETPrs5882,rs708272, SIRT1rs12778366, FGFR2rs2981582, STAT3rs744166, VEGFArs833068, IL6rs1800795 polymorphisms was carried out using the RT-PCR method.

Results: Our study determined that the G/A genotype of CETPrs708272 was associated with two-fold-decreased odds of ON development under the codominant (OR = 0.495;95%CI:0.256–0.959) and overdominant (OR = 0.501;95%CI:0.280–0.895) models. Also, each allele C at VEGFArs833068 was associated with 1.7-fold increased odds of ON development under the additive model (OR = 1.733;95%CI:1.148–2.615). Furthermore, IL6 rs1800795 G/G genotype was associated with increased odds of ON development under the codominant (OR = 2.869;95%CI:1.280–6.434) and recessive (OR = 2.315;95%CI:1.251–4.285) models.

Conclusions: We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95%CI:0.155–0.929; p = .034) model.     

视神经炎的临床特征分析及早期视盘和黄斑的改变

目的　研究视神经炎患者的临床特征及早期视盘和黄斑的改变。方法　回顾性分析山西省眼科医院视神经炎患者67例85眼。分析患者基本情况、眼科检查结果及OCT检查结果。结果　67例85眼中，男24例，女43例；28例（41.8%）发生于冬季；49眼（57.6%）入院时最佳矫正视力小于1.7 logMAR。视神经脊髓炎抗体阳性者出院和入院时的最佳矫正视力均较髓鞘少突胶质糖蛋白抗体阳性者差。患眼较健眼视盘周围神经纤维层增厚，杯盘面积比、杯盘垂直比、杯盘水平比、杯容积减小，盘沿面积、视盘面积增大（均为P=0.000）；与健眼相比，患眼早期上方、下方和平均黄斑区神经节细胞层厚度及黄斑区神经节细胞复合体的局部丢失体积、整体丢失体积均未发生明显改变（均为P＞0.05）。视盘水肿与患眼平均视盘周围神经纤维层厚度存在正相关（r=0.728，P=0.000）。结论　视神经炎多发生于女性，早期视力损害严重，视神经脊髓炎抗体阳性者视力预后差。早期由于视盘水肿，视盘周围神经纤维层增厚，盘沿面积、视盘面积增大；杯容积、杯盘比减小，早期病变未累及黄斑区。     

中西医结合治疗面神经炎3例的临床体会

面神经炎是一种较为常见的疾病,其临床症状主要为患者的患侧无法正常的闭目、皱额头、皱眉以及鼓气和噘嘴等动作,西医主要以抗炎、改善微循环和消除水肿为治疗方法,中医治疗如中药和针刺均对本病有良好的疗效。现通过对3例面神经炎患者给予中西医结合治疗后观察并探讨其临床疗效,总结面神经炎的诊断治疗体会。     

头脉冲试验与头脉冲抑制试验参数相关性分析

目的验证头脉冲试验（HIMP）和头脉冲抑制试验（SHIMP）在前庭眼动反射中的互补效应。方法选择前庭上神经炎患者33例，健康成人10例（20耳），对前庭上神经炎患者患侧和健康成人左右侧HIMP和SHIMP增益、扫视潜伏期、扫视波振幅及显性扫视产生百分比进行匹配分析，比较HIMP和SHIMP各项参数之间相互关系。结果HIMP增益与SHIMP增益呈线性正相关，并且HIMP增益大于SHIMP增益，差异具有统计学意义（t=5.890，r=0.956，P均=0.000）。HIMP潜伏期大于SHIMP潜伏期，差异具有统计学意义（t=-3.360，P=0.001），但无相关性（r=0.180，P=0.196）。HIMP扫视振幅与SHIMP扫视振幅呈负相关（r=-0.484，P=0.000），HIMP扫视百分比与SHIMP显性扫视百分比呈负相关（r=-0.604，P=0.000）。HIMP增益与HIMP扫视潜伏期、振幅及百分比均呈负相关，且均具有统计学意义（P＜0.05）。SHIMP增益与SHIMP代偿性扫视振幅及百分比呈正相关，具有统计学意义（P＜0.05）。SHIMP增益与SHIMP扫视潜伏期无相关性（r=-0.044，P=0.756）。结论SHIMP和HIMP均可检查水平性角前庭眼动反射（VOR）的直接通路，代偿性扫视和反代偿性扫视的增益、振幅和扫视产生的百分比可作为动态观察指标评估前庭功能。两者参数变化对评估VOR通路的损伤和恢复情况起到一定指导意义。