Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

儿童胡桃夹征CT表现(附2例报告)

“胡桃夹征”(nutcracker sign)又称“左肾静脉压迫综合征”,本文对经CT证实的2例分析如下。1材料与方法2例中,男女各1例,年龄7~10岁。临床症状主要为反复血尿,直立或剧烈活动明显。症状持续时间为10天~1年2个月,为肉眼或镜下血悄,伴有或不伴蛋白尿,无高血压及水肿。2例患者实验室检查:肝功、肾功、抗PPD抗体、抗“O”均正常。2结果2例患者重组图像均显示肠系膜上动脉(SMA)与腹主动脉夹角变小,为23°~25°,SMA向后挤压左肾静脉,以矢状面重组图像较为直观(图1);左肾静脉于SMA后方与腹主动脉之间明显狭窄,其远侧段管腔扩张(图2)。CTA…     

平衡法门控心血池显像评价不同分级前壁心肌梗死患者左室收缩及舒张功能

目的我们应用平衡法门控心血池显像技术对不同Killip分级的前壁心肌梗死患者进行左室总体和局部收缩和舒张功能参数的对比分析。方法对照组15例（G0）,前壁心肌梗死KillipⅠ级17例（G1）,前壁心肌梗死KillipⅡⅢ级12例（G2）。利用平衡法门控心血池显像技术评价3组的左室总体和局部的收缩与舒张功能。结果①左室整体收缩功能,在LVEF,ESC 2个参数中,G1比G0有显著差异（P<0.05）,G2分别比G1和G0有显著差异（P<0.05）。在PER、1/3EF、1/3ER 3个参数中,G2分别比G1和G0显著下降（P<0.05）。②左室总体舒张功能,在PFR、1/3FF、1/3FR、EDC中,G1比G0有显著差异（P<0.05）,G2分别比G1和G0有显著差异（P<0.05）。③左室局部收缩功能,在以LVREF为参数时,G1在4个节段比G0显著差异（P<0.05）,G2在所有6个节段中比G1和G0均显著下降（P<0.05）。④左室局部舒张功能,在以LVR1/3FF为参数时,G1在4个节段比G0显著下降（P<0.05）,G2在所有6个节段比G0和G1均显著下降（P<0.05）。结论前壁心肌梗死后出现心功能受损或心力衰竭的主要原因为左室重构。     

血管内栓塞结合显微手术治疗颅内动脉瘤临床研究

目的应用显微手术夹闭、血管内栓塞和栓塞后手术夹闭3种治疗方法，探讨治疗颅内破裂动脉瘤的安全有效方案。方法显微手术瘤颈夹闭30个动脉瘤，栓塞34个动脉瘤，栓塞后夹闭15个动脉瘤。结果夹闭组30个完全夹闭，无复发，死亡率6％（2／30）。栓塞组完全闭塞率70．6％（24／34），复发率17．6％（6／34），死亡率11．8％（4／34）。栓塞后手术组15个完全夹闭，无复发，死亡率6．7％（1／15）。治疗结束用GOS评价，1个月后3组良好率分别为80．0％、79．4％和80．0％；半年后良好率分别为90．0％、88．2％和86．7％。结论显微手术瘤颈夹闭术仍然是治疗破裂动脉瘤的有效方法，具有1次治疗彻底和复发率低的优势，并可作为栓塞失败的补救手段。     

Contribution of hypoxia-measuring molecular imaging techniques to radiotherapy planning and treatment

Hypoxia is related to poor prognosis because it is associated to chemo-and radioresistance. During recent years the evolution of imaging methods like PET/CT and MRI has meant the appearance of new perspectives with direct implications in radiation therapy. We discuss previous experiences in staging, planning and in the follow-up process with these techniques for measuring tumour hypoxia.     

一种适用于聚合酶链反应的常见念珠菌基因组DNA提取方法的研究

目的介绍一种简单、快速的真菌DNA提取方法,提高真菌DNA提取效率,减少毒性和污染性,以适应临床研究需要。方法同时用溶细胞酶结合Biospin真菌基因组DNA提取试剂盒和十六烷基三甲基溴化铵(CTAB)法,提取白色念珠菌、热带念珠菌、克柔念珠菌和净平滑念珠菌基因组DNA,用A260/A280的比值检测DNA的纯度并计算质量浓度,同时行聚合酶链反应(PCR)以评价其可靠性。结果溶细胞酶结合Biospin真菌基因组DNA提取试剂成功提取所用真菌基因组DNA,其纯度及质量浓度能满足PCR反应的要求。结论用溶细胞酶结合Biospin真菌基因组DNA提取试剂提取DNA,简单、快速、高效,可用于PCR反应。     

Contribution of Calcium Channel Subtypes to the Intracellular Calcium Signal in Sensory Neurons: The Effect of Injury

Background: Although the activation-induced intracellular Ca2+ signal is disrupted by sensory neuron injury, the contribution of specific Ca2+ channel subtypes is unknown.

Methods: Transients in dissociated rat dorsal root ganglion neurons were recorded using fura-2 microfluorometry. Neurons from control rats and from neuropathic animals after spinal nerve ligation were activated either by elevated bath K+ or by field stimulation. Transients were compared before and after application of selective blockers of voltage-activated Ca2+ channel subtypes.

Results: Transient amplitude and area were decreased by blockade of the L-type channel, particularly during sustained K+ stimulation. Significant contributions to the Ca2+ transient are attributable to the N-, P/Q-, and R-type channels, especially in small neurons. Results for T-type blockade varied widely between cells. After injury, transients lost sensitivity to N-type and R-type blockers in axotomized small neurons, whereas adjacent small neurons showed decreased responses to blockers of R-type channels. Axotomized large neurons were less sensitive to blockade of N- and P/Q-type channels. After injury, neurons adjacent to axotomy show decreased sensitivity of K+-induced transients to L-type blockade but increased sensitivity during field stimulation.