Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.

The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease.     

神经干细胞移植治疗缺氧缺血性脑损伤的实验研究

目的 研究神经干细胞移植治疗缺氧缺血性脑损伤的可行性。方法 取孕龄为12－16天的母鼠，从胎脑中分离神经细胞，进行培养、鉴定。用出生7天的SD大鼠的新生鼠制作缺氧缺血性脑损伤的动物模型，7天后接受神经干细胞移植（移植组，n＝16只），同时设置对照组，只注射磷酸缓冲液（对照组，n=8只），8－10周后，作Y迷宫实验检测大鼠的学习能力和记忆能力。取脑组织作免疫组织化学检查。结果 从大鼠胎脑中成功培养出神经干细胞，培养条件下呈悬浮状态生长，形成神经球，绝大多数的细胞表达神经干细胞的标志物神经巢蛋白（nestin）。接爱神经干细胞移植组大鼠的学习能力、记忆能力和对照组相比，有明显提高，差异具有显著性（P＜0.05）。接受神经干细胞移植大鼠组织中可见存活的移植细胞，并和宿主脑组织融合在一起。结论 在体外培养条件下，可从胎脑组织中培养出神经干细胞，移植到缺氧缺血性脑损伤大鼠脑内后，细胞与宿主的脑组织融合在一起，动物的学习、记忆能力有改善。移植神经干细胞是治疗缺氧缺知性脑损伤的有效方法之一。     

高热惊厥214例临床分析

本文分析了214例高热惊厥,结果为:检出率4.35％;男女之比为1.61:1;好发年龄为6个月～6岁(93.5％);首发年龄为6个月～4岁(89.9％);惊厥发作时体温多在39℃以上(74.6％);惊厥发作多在发热后12h内(72.4％);每次热病中惊厥发作1～3次(99.5％);惊厥持续时间多在15min内(91.0％);致惊厥发作的热性疾病以上呼吸道感染为最多;214例中63例复发,其中2例转癫痫,61例尚未发现智力低下或其他异常。从2例转癫痫的临床及脑电图看,提示惊厥发作愈重,持续时间愈长,转癫痫的可能性愈大。     

Granuloma annulare possibly triggered by antitetanus vaccination

We report the case of a 6-year-old girl with granuloma annulare (GA) possibly related to antitetanus vaccinations. The first episode occurred 2 months after the girl had been vaccinated but the lesions were not located at the vaccination site. After 1 year of being free of lesions, she had a second episode unrelated to vaccination. After another 6-month lesion-free period, the girl was administered another antitetanus vaccination and a solitary lesion developed at the vaccination site within 3 days. A few lesions developed on her legs in the 2 months following the appearance of the initial plaque. The literature includes two reports of cases with papular lesions limited to the hepatitis B vaccination site, both histopathologically consistent with necrobiotic granuloma, but clinically not suggestive of GA. To the best of our knowledge, GA following antitetanus vaccination and occurring at the vaccination site has not been reported before. Either the trauma alone from the injection or a vaccine-induced immunological reaction might have triggered the necrobiosis of collagen through some unexplained mechanisms.     

创伤后肝细胞凋亡与坏死的检测及其意义

目的 探讨严重创伤后肝细胞凋亡及坏死在急性肝功能障碍发病机制中的作用。方法复制多发性骨折合并休克的大鼠创伤模型,采用 Annexin－V－Flous、碘化丙锭(propidium iodid,PI)双标法经流式细胞仪检测创伤后各时间点肝细胞凋亡与坏死的数量变化,结合光镜、电镜和电泳观察细胞凋亡与坏死,并与肝功能变化相比较。结果创伤后早期肝细胞即发生凋亡和坏死,坏死肝细胞的数量进行性升高,与肝功能变化显著呈正相关;凋亡肝细胞在创伤后3h达高峰,部分凋亡肝细胞发生继发性坏死,其数量与肝功能变化显著正相关。结论肝细胞坏死与凋亡是严重创伤后肝功能损害的重要原因,坏死肝细胞是肝功能损害的直接因素,凋亡肝细胞通过发生继发性坏死加重肝功能损害。     

严重胸腹部闭合性联合伤致呼吸心跳停止成功救治1例

报告1例严重胸腹部闭合性联合伤所致的急性呼吸心跳骤停得到成功救治的病例。闭合性胸腹联合伤后,因病情可能发展,应随时注意复查胸片、血气等;若基层医院条件不够,应及时转往上级医院,以免延误患者的治疗。     

Long-term Results of Primary Stent Placement to Treat Infrarenal Aortic Stenosis

OBJECTIVE: To determine the safety and the long-term results of primary stent placement for localized distal aortic occlusive disease. DESIGN: Retrospective observational study. PATIENTS AND METHODS: From July 1998 to July 2005 17 patients (14 female and 3 men, mean age 57 years (39-80)) were treated for intermittent claudication. Five of these patients underwent additional endovascular treatment of focal iliac lesions. RESULTS: Technical success defined as residual stenosis of less than 50% or a trans-stenotic systolic pressure gradient <10% was achieved in 14 of 17 (82%) patients. Major complications included dissection at the puncture site in one patient and thrombosis of additional iliac stents in another patient. Both of these complications were successfully treated. During a mean follow-up of 27 months (range 1-86), four patients had recurrence of symptoms due to in-stent restenoses (n=2), femoral (n=1) or iliac occlusion (n=1), respectively. By Kaplan-Meier analysis, primary aortic hemodynamic patency was 83% at 3 years. Secondary aortic hemodynamic patency was 100%. The primary clinical patency was 68% at 3 years. CONCLUSION: Primary stent placement for distal aortic stenoses is an alternative to surgical treatment because of its high patency and relatively low complication rates.