羊水细胞培养进行脊肌萎缩症的产前诊断

目的 应用错配聚合酶链反应-限制性片断长度多态性（PCR-RFLP）方法进行脊肌萎缩症（spinal muscular atrophy,SMA)的产前诊断。方法 基于运动神经元生存基因（SMN）的两个同源拷贝碱基的差异，通过羊水细胞培养，应用错配PCR-RFLP法对2例有SMA阳性家族史的胎儿进行产前基因诊断。结果 2例均无SMN基因外显子缺失。结论 SMN基因缺失检测技术是高效、快速的SMA产前诊断的方法。     

血栓闭塞性脉管炎的腔内治疗

Objective To investigate the value of endovascular surgery for the treatment of thromboangitis obliterans (TAO). Methods Sixteen patients (18 limbs) with thromboangitis obliterans were treated by percutaneous transluminal plasty (PTA). Results Angiographic success on the limb basis was achieved in 15 of 18 treated limbs and the initial technical success rate was 83.34%. Doppler anklebrachial index (ABI) increased from 0.33±0.16 to 0.79±0.23 one week after PTA. The follow-up time was 2～24 months, the average time was 10.84 months. The 3-month, 12-month accumulated primary patency rate were 81.33% and 60. 23% respectively. Conclusion PTA is effective primary invasive treatment for thromboangitis obliterans yielding acceptable primary clinical success with a low complication rate and resulting in moderate long-term clinical patency and a high limb salvage rate.     

富含血管的听神经瘤

目的探讨富含血管的听神经瘤的手术治疗。方法复习20年（1975—1995）手术治疗单侧听神经瘤90例，其中4例为富含血管的听神经瘤（HAT），与86例非富含血管的听神经瘤（NHAT），做回顾性分析，据临床表现、放射学检查、手术所见做比较。结果HAT较NHAT年轻（28±10与54±17岁）（P〈0．01），MRI显示HAT为实质性，无肿瘤囊变，多数较NHAT为大（P〈0．05）；MRI示HAT有多个代表较大引流静脉的流空效应；经皮股动脉、椎动脉造影显示HAT有广泛的肿瘤着色及早期引流静脉的充盈，并证实由椎基动脉供血。过去文献报道认为以分期手术为宜。作者在控制性低血压麻醉下，成功地完成了4例HAT的切除术，未输血，术后无明显伤残。结论HAT是一种实质性大型肿瘤，出现于青年期，血管造影能够提供特征性发现。MRI能显示肿瘤表面的流空效应而确诊。采用控制性低血压麻醉有望能一期全切除肿瘤。     

Pituitary adenomas: Trans‐sphenoidal experience of 300 cases

Objective: The main aim of the present study was to examine the effectiveness and complication rate of the 1 cm right‐sided unilateral sublabial trans‐sphenoidal surgery for patients with pituitary adenoma equal to or greater than 5 mm in diameter. Method: A total of 350 patients were surgically treated for pituitary adenomas between December 1999 and December 2003 in an academic neurosurgical unit in China. Three hundred patients (86%) were treated with the 1‐cm right‐sided unilateral sublabial trans‐sphenoidal approach. The mean age of patients was 43 years (range 10–78 years) and female patients accounted for 59% of the total. One hundred and ninety‐six (64%) patients had functioning endocrine tumours and 104 (36%) patients had non‐functioning tumours or macroadenomas. Tumours which were outside this simple and basic classification were excluded from the study. Results: There were no operative mortalities. One patient developed hypopituitarism and 16 (5%) developed transient diabetes insipidus that required pituitrin treatment. The remission rate for macroadenoma was 85% and that for microadenoma was 98.5% during a medium term follow‐up of 1–5 years. One hundred and fifteen patients had prolactin secreting tumours and 90.4% achieved endocrine remission. Fifty‐six patients had growth hormone secreting tumours and 75.4% achieved endocrine remission. Preoperatively, one hundred and fifty‐one patients presented with visual impairment and 148 (98%) achieved a documented improvement in visual acuity. The mean duration of hospital stay was 4 days (range 3–7 days). Conclusion: This minimally invasive trans‐sphenoidal surgery for pituitary adenomas could be used as the primary treatment for small pituitary tumours. The effectiveness of the tumour removal and low morbidity rate compare favourably with the conventional sublabial approach as well as the more recently developed endoscopic endonasal approaches.     

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.     

Docosahexaenoic acid is superior to eicosapentaenoic acid as the essential fatty acid for growth of grouper, Epinephelus malabaricus.

Juvenile grouper (Epinephelus malabaricus) were fed seven experimental diets, one control diet and one reference diet for 12 wk to determine the dietary requirement of grouper for docosahexaenoic (DHA) and eicosapentaenoic (EPA) acids. Each of the seven diets contained 1 g/100 g DHA and EPA in various combinations and 9 g/100 g tristearin. The control diet contained 1 g/100 g trilinolenin and trilinolein (3:1, wt/wt), and no supplemental EPA or DHA. The reference diet contained only natural oils from a mixture of cod liver oil, linseed oil and safflower oil at a ratio of 2:1:1 (wt/wt/wt). Significant differences (P < 0.05) in growth were observed among the dietary treatments but not in survival rate or relative liver weight. Only the diet with the highest DHA/EPA ratio (3:1) promoted significantly greater growth than the control diet. Purified EPA and DHA did not perform better in promoting growth than did the impure EPA and DHA oils. Enhanced growth was observed when the dietary DHA/EPA ratio was greater than 1, indicating that DHA was superior to EPA in promoting fish growth. Neutral lipid (NL) was the predominant lipid fraction (>70%) in both liver and muscle. Tissue NL/polar lipid did not differ among groups except the reference diet group that had a higher ratio (P < 0.05). DHA and EPA levels in the grouper tissues, especially muscle, were highly reflective of dietary levels of DHA and EPA, indicating that direct incorporation was likely. In addition, the 20:1(n-9), concentration in NL fractions seems to be an appropriate indicator of dietary essential fatty acid deficiency in grouper.     

上矢状窦旁脑膜瘤致上矢状窦阻塞时侧支静脉通路的意义

目的 分析上矢状窦旁脑膜瘤致上矢状窦(SSS)阻塞时其侧支静脉通路的建立情况，确定其在肿瘤切除术中的意义。方法 总结归纳86例上矢状窦旁脑膜瘤行MRA及DSA检查时的静脉系表现。结果 27例发生SSS完全阻塞，59例部分阻塞。18例在阻塞的SSS周围出现了由表浅皮层静脉所形成的侧支静脉环；通过表浅皮层静脉与蝶顶窦及小脑幕静脉系建立端—端吻合的16例；通过与Troland或Labbe静脉建立吻合的14例；通过大脑镰与下矢状窦吻合的9例；通过脑膜静脉并经板障静脉引流到颈外静脉系的17例；混合型12例。结论 上矢状窦旁脑膜瘤致SSS阻塞时，肿瘤周围存在广泛侧支静脉通路，术中应注意保护。脑DSA及MRA检查对术前了解SSS通畅性及侧支静脉通路建立有帮助。     

国产前列腺内支架的临床应用及并发症探讨

目的探讨国产前列腺内支架治疗前列腺增生引起排尿困难的疗效及并发症.方法42例前列腺增生引起的排尿困难的患者,置入46枚前列腺内支架.支架均为国产镍钛记忆合金编织而成.结果42例患者中,36例置入支架后立即自行排尿,5例因前列腺增生过大前列腺尿道部过长或支架位置不理想,置入一个支架,排尿仍有困难,再次置入第二个支架后,立即自行排尿,但2例出现长期的尿失禁;1例伴有糖尿病的患者,置入支架1周后排尿困难未改善,而进行外科手术治疗.36例生活质量积分0～3分,29例术后随访6～21个月,国际前列腺症状评分(I-PSS)术前27.49±4.21,术后6.89±3.76(P<0.001),最大尿流率术前(1.78±3.89)ml/s,术后(13.91±3.56)ml/s(P<0.001).结论国产前列腺支架治疗前列腺增生引起的排尿困难虽然会出现一些并发症,但仍是一种安全、可靠的方法.