Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

Liver and lung resection for colorectal metastasis

Aim: To examine the survival benefit of liver and lung resection for colorectal metastasis and the potential prognostic factors that affect patient survival. Methods: All patients who had resection of lung or liver metastasis for colorectal metastasis in Queen Elizabeth Hospital, Hong Kong from 1995 to 2004 were retrospectively reviewed. The overall and disease‐free survival was analysed, in particularly between liver and lung metastasis. All factors that may have affected the survival were entered into Cox's proportional hazards regression model to identify significant variables associated with survival. Results: At 5 years, the overall survival of patients who had resection of lung and liver metastasis was 44% and 38%, respectively; the disease‐free survival was 26% and 24%, respectively. Overall and disease‐free survival of patients with resection of lung metastasis was comparable to those with resection of liver metastasis. The differentiations of primary tumour and time to metastasis were shown to be significant prognostic factors influencing overall survival. Those patients with systemic chemotherapy after resection of colorectal metastasis demonstrated a significantly higher probability of overall survival. Conclusion: Resection of lung and liver metastases from colorectal origin was safe and both procedures improved survival. The use of chemotherapy after resection of metastasis significantly improved the overall survival.     

帕金森病相关致病基因的研究进展

近年来，帕金森病(PD)的遗传学研究取得了较大的进展，迄今为止已经确定了PARK1-PARK10等10个单基因与PD的发生有关。其中三个基因产物与家族性PD有关，它们分别是a-synuclein(PARK1)、parkin(PARK2)和泛素蛋白C末端羟化酶-L1(PARK5)，它们均参与Lewy小体．的形成，在PD的发病过程中扮演重要的角色。虽然另外几个基因对应的蛋白或对应蛋白的功能未知，但已经在染色体上找到相应的位置。PD遗传学的研究将有助于PD的早期诊断．并且有可能为PD的治疗提供新的靶点。本文概述了PD相关基因的最新研究进展。     

牙根发育不良疾病的研究进展

牙根发育不良疾病是牙齿根部生理性发育出现障碍的疾病。其发病率为1%~10%,乳、恒牙列均可发生,其结果可导致牙根缺如或短根,严重者可造成牙齿过早脱落。国外学者将该疾病统称为短根异常疾病。其发病因素有遗传性疾病、全身性疾病、外源性因素和医源性因素等。     

余甘子功能食品的开发及其类SOD活力测定

余甘子是一种具有较高的食用和药用价值的野生植物资源，风味独特，含有丰富的类SOD活性物质和其他多种具有生物活性的物质，具有清除自由基、抗肿瘤、抗衰老等保健作用。作者提出了余甘予保健口服液的生产工艺流程及配方，并采用改良的Marklund方法测定了类SOD的活力，结果较为满意。     

阻塞性黄疸大鼠肾脏自分泌内皮素的变化及其与肾功能损害的关系

目的　探讨阻塞性黄疸时肾脏自分泌内皮素 (ET)的变化及其与肾功能损害的关系。方法　结扎胆总管(BDL)制备阻塞性黄疸大鼠模型 ,作为实验组 ,对照组鼠仅行假手术。分别于术后 5、1 0及 1 5d ,两组各取 1 0只大鼠检测其肾脏对氨基马尿酸清除率 (CPAH)、菊粉清除率 (CIN)和钠排泄分数 (FENa+) ,并用鲎试剂法测定血浆内毒素 (EX)水平 ,放射免疫法测定肾动、静脉血浆及肾组织中ET 1含量。结果　①实验组术后 5d仅FENa+明显高于对照组 (P<0 .0 1 ) ,术后 1 0d起 ,CPAH、CIN及FENa+呈进行性下降 ,术后 1 5dFENa+已较对照组低 ,与对照组比较差异有显著性 (P<0 .0 1 ) ;②实验组术后血浆EX水平呈进行性升高 ,与对照组比较差异有显著性 (P<0 .0 1 ) ;③实验组术后肾动脉血浆ET 1水平呈持续性降低 ,而肾静脉血浆及肾组织中ET 1含量呈持续性升高 ,与对照组比较差异有显著性 (P<0 .0 1 ) ;④血浆EX水平与肾组织ET 1含量呈正相关 (r =0 .762 4 ,P<0 .0 1 ) ,肾组织ET 1含量与CPAH和CIN呈负相关 (r=- 0 .883 2 ,P<0 .0 1 ;r =- 0 .945 2 ,P<0 .0 1 )、与FENa+呈正相关 (r=0 .873 4 ,P<0 .0 1 )。结论　内毒素血症及其诱导的肾内ET分泌增加在阻塞性黄疸所致大鼠肾损害中可能具有重要作用     

复方麝香注射液联合脑血肿引流术治疗中老年高血压脑出血疗效观察及费用对比

目的:探讨复方麝香注射液联合微创手术治疗中老年高血压脑出血的临床疗效.方法:将78例接受微创治疗的患者随机分组,两组均采用内科综合治疗.手术对照组在综合治疗基础上加用微创手术进行脑血肿引流;中西医结合组在微创手术治疗后加用复方麝香注射液(10～20 ml/d)静脉滴注1周.结果:中西医结合组显效率(66.67%)、有效率(82.05%)均明显高于手术对照组(46.15%和69.23%,P均<0.05),存活患者日常生活能力也明显优于手术对照组(P<0.05),意识恢复时间明显短于手术对照组(P<0.05),并发症的发生率(15.38%)明显低于手术对照组(38.46%,P<0.01),病死率(5.13%)明显低于手术对照组(10.26%,P<0.01),平均住院天数[(18.29±4.93)d]明显少于手术对照组[(26.23±5.82)d,P<0.05],平均住院费用[(5 916.23±826.39)元]明显少于手术对照组[(8 168.35±1 021.21)元,P<0.05].结论:脑血肿引流术后加用复方麝香注射液治疗中老年高血压脑出血,可降低病死率,减少并发症,降低病残程度,提高生存患者的生活质量,缩短住院时间,降低治疗费用.