Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.     

胸腰段脊柱脊髓损伤减压与固定相关问题探讨（附166例报告）

目的 对胸腰段脊柱脊髓，马尾神经损伤患者的外科治疗及几种内固定方法的疗效进行探讨。方法 对166例患者的治疗进行回顾分析。该组患者中椎体爆裂性骨折37例，椎体压缩骨折超二分之一109例，椎体骨折脱位14例，多节段或跳跃骨折6例，脊髓损伤按Frankel分级，A级59例，B级46例，C级42例，D级19例，治疗采用后路减压复位122例，前路减压复位，髂骨植骨融合44例。结果 术后123例获3-18个月随访，随访患者中随4例RF钉断裂，5例Harrington上钩脱落，6例棍断裂，其余患者内固定稳固，脊髓，马尾神经恢复，除35例仍为A级外，余脊髓神经功能恢复1-3个级别。结论 各种不同内固定可保持或增强脊柱的稳定，胸腰段脊柱脊髓损伤的外科治疗应根据骨折类型，脊髓及马尾神经损伤程度选择手术入路及内固定材料。     

SA脂质体介导GFP／bFGF基因在豚鼠耳蜗中的表达

目的 :观察天然碱性脂 (Stearylamine,SA)脂质体介导绿色荧光蛋白 /碱性成纤维细胞生长因子(GFP/bFGF)基因于不同时间段豚鼠耳蜗中的表达 ,为进一步研究耳聋的基因治疗提供实验基础。方法 :取豚鼠 1 6只 ,分成 4组 ,每组 4只。其中 3只右耳圆窗内注入SA -GFP/bFGF复合物 ,1只同法注入生理盐水作为对照。分别于术后第 2、7、1 4、2 1天取材。在荧光显微镜下观察GFP的表达 ,用免疫组化法检测bFGF的转导情况。结果 :荧光显微镜下见双侧耳蜗于术后第 2天开始部分细胞发出绿色荧光 ,第 7天达到高峰 ,支持细胞及内外毛细胞均显荧光 ,细胞轮廓清晰 ;第 1 4天开始减弱 ,第 2 1天消失。免疫组化染色显示 ,除血管纹外 ,耳蜗各回Corti器、螺旋韧带、螺旋缘及螺旋神经节细胞均有高浓度的表达产物 ,对照动物呈阴性表达。结论 :SA脂质体介导的GFP/bFGF基因单耳给药双侧耳蜗均有高效表达 ,为进一步研究基因治疗耳聋提供了可能。     

多种血管新生指标在肝细胞肝癌中的表达及敏感性比较

目的　探讨血管新生指标CD34、CD31、vWF、Ⅳ型胶原纤维及层粘连蛋白在肝细胞肝癌(HCC)中的表达及意义 ,同时比较上述几种血管新生因子与增殖细胞核抗原 (PCNA)、病理指标及预后的相关性 ,以便筛选出有效的临床预后指标。方法　采用免疫组化方法 ,对 5 3例肝细胞肝癌的标本进行CD31、CD34、vWF、Ⅳ型胶原纤维及层粘连蛋白的染色、计数 ,并用检测数据与患者的临床资料进行统计分析。结果　统计染色的血管面积后发现 ,CD34与多种临床病理指标无相关性 ;CD31与肝内门静脉浸润相关 ;vWF与肿瘤的TNM分期及肝内门静脉浸润呈正相关 ;CollⅣ与肝内门静脉浸润呈正相关、与术后生存期呈负相关 ;Lam与肝硬化及术中出血量呈负相关、与术后生存期呈正相关。PCNA与肿瘤TNM分期有关。结论　在HCC中 ,CollⅣ、vWF、及CD31为肝细胞肝癌的有效血管新生及预后指标 ;Lam则与肝硬化及术中出血相关 ;PCNA指数肿瘤分期有关 ;CD34不能用作血管新生或预后指标     

我国较贫困地区农村学龄前儿童膳食状况

对１９８５～１９８９年７省较贫困的１８个乡农村儿童膳食调查资料采用平均摄入量、临界值及概率法进行了总结分析。结果表明，６～２４月龄母乳喂养儿的辅食品种单一，数量不足。断奶儿童各年龄组热能、蛋白质摄入量的平均值分别达ＲＤＡ的９２％～１０４％和７６％～８４％，但以ＲＤＡ为界值，仍有５３％～６２％及７４％～８５％的儿童热能、蛋白质摄入量低，用概率法分析蛋白质、钙、维生素Ａ、Ｂ２、Ｃ及铁摄入不足的人数比例分别是５０％～６０％、９３％～９７％、５１％～８７％、７４％～８６％、５８％～６６％和１２％～４７％。热能、蛋白质摄入量低于ＲＤＡ值儿童的身高、体重明显低于摄入量高于ＲＤＡ值的儿童。     

运动性中枢疲劳及乳酸对大鼠大脑皮质神经细胞MCT mRNA表达的影响

目的:探讨运动性中枢疲劳时大鼠大脑皮质MCT1、MCT2mRNA表达的变化以及乳酸对大鼠大脑皮质神经元MCT2mRNA表达的影响。方法:12只Wistar大鼠随机分为对照组和力竭训练1周组,每组6只。通过7天力竭训练建立中枢疲劳模型,观察中枢疲劳时大鼠大脑皮质MCT1、MCT2mR-NA表达变化;采用原代培养的大鼠大脑皮质神经元,观察不同浓度乳酸作用后大鼠大脑皮质神经元MCT2mRNA表达的变化。采用Trizol法提取大脑皮质和神经元总RNA;用SYBRAgreenI荧光定量RT-PCR测定MCT1及MCT2mRNA表达变化。结果:整体水平:力竭训练1周组MCT1mRNA表达无明显变化,而MCT2mRNA表达较对照组显著升高6·35±3·54倍(P<0·05)。细胞水平:乳酸作用后,神经元MCT2mRNA表达在pH=7·25时较对照组(pH=7·35组)升高3·08±2·38倍(P<0·05)。但随着乳酸浓度进一步升高,MCT2mRNA表达无明显增加。结果提示,中枢疲劳可能引发大脑皮质神经元MCT2mRNA表达升高,MCT2基因表达可能与乳酸在中枢疲劳中的作用有关。     

金钱白花蛇及其混淆品的鉴别

从原动物形态、药材性状、显微特征及理化方面对金钱白花蛇（银环蛇Ｂｕｎｇａｒｕｓｍｕｌｔｉｃｉｎｃｔｕｓ）及其３种混淆品水赤链游蛇Ｎａｔｒｉｘａｎｍｕｌａｒｉｓ，赤链蛇Ｄｉｎｏｄｏｎｒｕｆｏｚｏｎａｔｕｍ，金环蛇Ｂ．ｆａｓ－ｃｉａｔｕｓ进行了对比鉴别。     

Clinical and laboratory investigations of the relationship of accommodation and convergence function with refractive error

Studies of the relationship of clinical and laboratory measures of accommodation and convergence function with refractive error are reviewed. There are inconsistencies in results from study to study presumably due, in part, to methodological differences. However, some basic trends can be outlined. In studies in young adults, accommodation in darkness (dark focus), optical reflex accommodation, and proximally induced accommodation are less in myopes than in emmetropes and hyperopes. It also appears that nearpoint esophoria is associated with higher rates of myopia progression in children. Implications for myopia etiology are discussed.     

THE PITUITARY-LEYDIG CELL AXIS IN MEN WITH SEVERE DAMAGE TO THE GERMINAL EPITHELIUM

Eighteen men (mean age 27, range 18-30 years) treated for Hodgkin's disease with 6-8 courses of MVPP (Mustine, Vinblastine, Procarbazine and Prednisolone) have had Leydig cell function assessed by their steroidogenic responses to stimulation by a single bolus dose of HCG (1000 units intramuscularly). Normal age-matched men (n = 16) acted as controls. Baseline immunoreactive FSH was markedly raised in the patients (mean 18.1 +/- SD 6.9 vs 2.0 +/- 1.5 IU/l, P less than 0.0001) reflecting damage to the germinal epithelium. Immunoreactive LH was also greater in patients (10.3 +/- 3.9 IU/l) than in controls (3.9 +/- 1.9 IU/l, P less than 0.0001). There were no differences between the baseline testosterone, androstenedione, oestradiol, oestrone and sex hormone binding globulin (SHBG) concentrations. The testosterone/SHBG ratios were similar in the two groups and there was no correlation between baseline LH and testosterone concentrations or testosterone/SHBG ratios. Testosterone, androstenedione, oestradiol and oestrone secretion in response to HCG stimulation were similar at 24 h and 96 h in both groups. In order to explain the paradox of elevated immunoreactive LH in the face of normal testicular steroidogenesis in such patients, LH biological activity (B) as well as LH immunoreactivity (I) and FSH and testosterone were estimated in a second similar group of patients (n = 17, mean age 27, range 17-43 years) and in a further age-matched control group (n = 17). Bioactive and immunoreactive LH levels were significantly increased (P less than 0.005 and P less than 0.001, respectively) in the patient group.(ABSTRACT TRUNCATED AT 250 WORDS)