阿魏酸钠治疗视网膜静脉栓塞疗效观察

目的探讨阿魏酸钠注射液治疗视网膜静脉栓塞的临床效果。方法100例（100只眼）视网膜静脉栓塞患者，随机分成治疗组和对照组各50例。对照组给予常规治疗，治疗组给予阿魏酸钠注射液300mg／d静脉滴注，14d为一疗程。测定治疗前后视力、视网膜中央静脉血流速度、视网膜中央动脉平均收缩期峰值血流速度。结果应用阿魏酸钠治疗后，视力明显改善，视网膜中央静脉血流速度和收缩期峰值血流速度显著提高，与对照组治疗后相比均有显著性差异，疗效优于对照组。结论阿魏酸钠治疗视网膜静脉栓塞疗效显著。     

神经移位治疗火器性肌皮神经和腋神经损伤

在观察和测量100个上肢解剖标本的基础上,我们设计了带血管的胸背神经和下肩胛下神经移位,一期修复一例火器性肌皮神经和腋神经损伤.术后8个月复查功能恢复甚为满意.     

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

Genetic testing in a multisite clinical trial network for inherited eye conditions is described in this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants in eyeGENE were enrolled through a network of clinical providers throughout the United States and Canada. Blood samples and clinical data were collected to establish a phenotype:genotype database, biorepository, and patient registry. Data and samples are available for research use, and participants are provided results of clinical genetic testing. eyeGENE utilized a unique, distributed clinical trial design to enroll 6,403 participants from 5,385 families diagnosed with over 30 different inherited eye conditions. The most common diagnoses given for participants were retinitis pigmentosa (RP), Stargardt disease, and choroideremia. Pathogenic variants were most frequently reported in ABCA4 (37%), USH2A (7%), RPGR (6%), CHM (5%), and PRPH2 (3%). Among the 5,552 participants with genetic testing, at least one pathogenic or likely pathogenic variant was observed in 3,448 participants (62.1%), and variants of uncertain significance in 1,712 participants (30.8%). Ten genes represent 68% of all pathogenic and likely pathogenic variants in eyeGENE. Cross‐referencing current gene therapy clinical trials, over a thousand participants may be eligible, based on pathogenic variants in genes targeted by those therapies. This article is the first summary of genetic testing from thousands of participants tested through eyeGENE, including reports from 5,552 individuals. eyeGENE provides a launching point for inherited eye research, connects researchers with potential future study participants, and provides a valuable resource to the vision community.     

Relationship between muscle fatigue and oxygen uptake during cycle ergometer exercise with different ramp slope increments

Summary The surface electromyogram (EMG) from active muscle and oxygen uptake ( ) were studied simultaneously to examine changes of motor unit (MU) activity during exercise tests with different ramp increments. Six male subjects performed four exhausting cycle exercises with different ramp slopes of 10, 20, 30 and 40 W · min^–1 on different days. The EMG signals taken from the vastus lateralis muscle were stored on a digital data recorder and converted to obtain the integrated EMG (iEMG). The was measured, with 20-s intervals, by the mixing chamber method. A non-linear increase in iEMG against work load was observed for each exercise in all subjects. The break point of the linear relationship of iEMG was determined by the crossing point of the two regression lines (iEMG_bp). Significant differences were obtained in the exercise intensities corresponding to maximal oxygen uptake ( ) and the iEMG_bp between 10 and 30, and 10 and 40 W · min –1 ramp exercises (P < 0.05). However, no significant differences were obtained in and corresponding to the iEMG_bp during the four ramp exercises. With respect to the relationship between and exercise intensity during the ramp increments, the -exercise intensity slope showed significant differences only for the upper half (i.e. above iEMG_bp). These results demonstrated that the and at which a nonlinear increase in iEMG was observed were not varied by the change of ramp slopes but by the exercise intensity corresponding to and the iEMG_bp was varied by the change of ramp slopes. In addition, the significant differences in the exercise intensity slopes for the upper half of the tests would suggest that the recruitment patterns of MU and/or muscle metabolic state might be considerably altered depending upon the ramp slope increments.     

内耳门周结构对内镜下脑桥小脑三角区手术的影响

目的：研究内耳门周结构对颞骨径路内镜下处理脑桥小脑三角区病变手术的影响，为临床开展相应手术提供参考。方法：在20例40侧成人尸头上模拟颞骨径路内窥镜手术，观察小脑下前动脉及内耳门后唇的变异，了解其对内窥镜导入及其手术的影响。结果：内耳门后唇隆起超过面神经脑桥小脑角段1／3以上者占27．5％(11侧)。小脑下前动脉在Ⅶ、Ⅷ脑神经外侧成袢者占22．5％(9侧)。内耳门后唇隆起合并小脑下前动脉袢在Ⅶ、Ⅷ脑神经之外侧者占7．5％(3侧)。结论：当内耳门后唇隆起超过面神经脑桥小脑角段1／3或小脑下前动脉弓在Ⅶ、Ⅷ脑神经之前时将对内窥镜导入有阻碍，当两种情况合并存在时要将内窥镜导入脑桥小脑三角区相当困难，不宜采用此种手术方式。     

The use of a double-marker shuttle vector to study DNA double-strand break repair in wild-type and radiation-sensitive mutants of the yeast Saccharomyces cerevisiae

An episomal DNA vector (YpJA18), encoding two selectable recombinant yeast genes (TRP1, URA3), was constructed to assess the fidelity of DNA repair in haploid repair-competent (RAD) wild-type yeast and several radiation-sensitive mutants. Either a DNA double-strand break (DSB) or a double-strand gap of 169 bp (DSG) was introduced by restriction enzymes in-vitro within the coding sequence of the URA3 gene of this vector. To eliminate transfer artefacts, selection was first applied for the undamaged TRP1 gene followed by counter selection for URA3 gene activity, which indicated correct repair of the DSB and DSG. Correct repair of the damaged URA3 gene was found to be about 90% in RAD cells (normalized for the expression of undamaged URA3 in TRP ⁺ transformants). Plasmids isolated from the transformants (URA ⁺ TRP ⁺) carry both unique sites (ApaI and NcoI) within the URA3 gene indicating the precise restitution of the 169-bp gap. An excision-repair-defective rad4-4 mutant repaired these lesions as correctly as RAD cells, whereas the mutants rad50-1, rad51-1 and rad54-1, proven to be defective in DSB repair and mitotic recombination, showed less than 5% correct repair of such lesions. In contrast, a representative of the RAD6 epistasis group of genes, the rev2-1 mutant which is sensitive towards UV and ionizing radiation, had a significantly reduced ability (about 20%) for the correct repair of both DSBs and DSGs.     

延髓感觉核向丘脑和下丘的投射——荧光素双标记法

本文应用荧光素双标记法研究了后索核、孤束核、三叉神经脊束核向下丘和丘脑投射神经元的分布及其分支投射。作者将Propidium Iodide注入大白鼠右侧丘脑,Bisbenzimide注入右侧下丘,结果如下:楔束核内被标记的神经元中有88.2％向丘脑投射,它们位于核的主部;11.2％向下丘投射,它们在尾侧主要位于核的边缘部,向吻侧(至闩平面)主要位于核的背外侧端。薄束核内被标记的神经元中向下丘投射者(10.9％)与向丘脑投射者(86.7％)混杂在一起。在此两核内仅有极少量分支投射的双标神经元。孤束核和三叉神经脊束核内被标记的神经元中约有2/3投向丘脑,1/3投向下丘,未见分支投射的双标神经元。     

Blood supply to the retina and the lens in the gerbil (<Emphasis Type="Italic">Meriones unguiculatus</Emphasis>)

The blood supply to the retina and the lens in 32 gerbils (Meriones unguiculatus) of both sexes from infancy to maturity was studied under light and stereoscopic microscopes, and a scanning electron microscope. Mercox (CL-2R; Dai Nippon Ink, Tokyo, Japan) was injected into the left ventricle of 30 animals in order to visualize the blood supply to the retina and the lens from the ophthalmic artery. The central retinal artery arises from the ophthalmic artery, passes through the papilla of the optic nerve together with the central retinal vein and penetrates the vitreous space (cavity of the eye) between the lens and the internal limiting membrane of the retina, where it divides into the central branches covering the lens and the parietal branches to supply the retina. The former passes through the hyaloid space after branching several arterioles and then covers the lens like a network from its medial and marginal sides. Different from small experimental animals, the parietal branches, just after separating from the central one, divides into the nasal, dorsal and temporal branches in the vitreous space, each of which then subdivides to distribute across the retina on the inner limiting membrane, then delineates the membrana vasculosa retinae. This basal pattern of vasculization 1 day after birth continues to death. Both the central and parietal branches of the central retinal artery correspond to the branches of the hyaloid artery in embryo and the latter is preserved in adult gerbils.     

Melanotic Neuroectodermal Tumor of Infancy Occurring in the Left Thigh of a 6-Month-Old Female Infant

We report an exceptional case of melanotic neuro-ectodermal tumor of infancy (MNTI) occurring in the soft tissue of the left thigh of a 6-month-old female infant. The tumor consisted mainly of small round cells (neuroblasts) arranged in cords and nests that were separated by broad fibrovascular areas. In addition, there were a few medium-sized tumor cells containing melanin pigment (melano-cytic cells) that in electron microscopy contained melanosomes as well as tonofilaments. Both tumor cell types immunostained for neuron-specific enolase (NSE) and vimentin, and the melanocytic cells reacted additionally with the antikeratin antibody KL1. Within the tumor stroma, neurofilament- and S-100-protein-positive neural cells and vimentin- and desmin-positive myofibroblasts were seen. Although densecore granules were demonstrated ultrastructurally in some neuroblasts, no immunostaining for chromogranin A, Leu-7, serotonin, or regulatory peptides was found. MNTI located in an extremity can be confused with malignant small round and blue cell tumors of childhood. The distinction between MNTI and these tumors is of clinical significance because MNTI, in most cases, is a benign tumor that, in contrast to the latter, can be cured by complete excision. The presence of a biphasic cell population with neuroblasts and melanocytic cells must be considered the main diagnostic feature of MNTI.     

Pigmentary degeneration indwed by N-methyl-N-nitrosourea and the fate of pigment epithelial cells in the rat retina

Pigmentary degeneration of the retina was induced by a single intraperitoneal Injection of 75mgkg of N-methyl-N-nitrosourea (MNU) In female Brown-Norway colored rats at 50 days of age, which were then observed at 24, 48 and 72 h and 7, 21,35 and 150 days after the treatment. MNU-treated rats showed selective destruction of the photoreceptor cells by an apoptotic mechanlsm 24 h after the treatment, and the destruction was completed by day 7. During the photoreceptor cell degeneration, proliferation of Miller cells and infiltratlon of macrophages was prominent 72h and 21 days aRttr the treatment, respectively. Müller cell proliferation and macrophage infiltratbn corresponded to degenerative photo-receptor cell phagocytosis, and prollferating Müller cell processes responded to stabilize the damaged retina. Pigment epithelial cell detachment from the Bruch's membrane was seen 72 h after the treatment, and migration within all layers of the retina was seen at day 7 when photoreceptor Cells were lost. At 21, 35 and 150 days after the treatment, lack of photoreceptor cells and deposition of pigment epithelial cells within the retina but not in contact to vascular endothe-lial cells were characteristic. MNU-induced photoreceptor apoptosis followed by Miiller cell and macrophage reaction then pigment epithellal cells deposition withln the retina partially resembles retinitis pigmentosa in humans.