EphB2在先天性肛门直肠畸形直肠末端表达的研究

目的 研究酪氨酸蛋白激酶受体--EphB2在先天性肛门直肠畸形直肠末端组织中的mRNA表达和蛋白表达的水平,探讨EphB2与先天性肛门直肠畸形发生的关系.方法 RT-PCR方法和Western蛋白印迹方法,检测31例不同类型先天性肛门直肠畸形直肠后壁末端、5例后天瘘及8例正常直肠后壁末端EphB2在蛋白水平和mRNA水平的表达情况,应用单因素方差分析比较正常组和畸形组、不同类型的畸形组之间EphB2表达水平的差异.结果 ①先天性肛门直肠畸形末端肠壁EphB2基因mRNA相对表达量明显低于正常对照组(0.99±0.11,P=0.00).不同类型的畸形组之间,高位组(0.43±0.07)和中位组(0.47±0.10)之间差异无统计学意义(P=0.33),但二者明显低于低位组(0.64±0.06,P=0.00).后天瘘组(0.97±0.09)与正常对照组比较差异没有统计学意义(P=0.63);②Western蛋白印迹结果显示,先天性肛门直肠畸形高位组(0.21±0.05)、中位组(0.24±0.04)和低位组蛋白表达水平均明显低于后天瘘组(0.51±0.05)和正常对照组(0.52±0.03,P=0.00).不同类型的畸形之间,高位组和中位组之间无明显差异(P=0.11),但二者明显低于低位组(P＜0.01).后天瘘组与正常对照组比较差异没有统计学意义(P=0.67).结论 EphB2在先天性肛门直肠畸形直肠末端低表达.EphB2的表达和肛门直肠畸形的发生有关,EphB2在先天性肛门直肠畸形的发生中可能具有重要作用.     

EphB2基因多态性与先天性肛门直肠畸形的相关性研究

目的 探讨EphB2受体基因第6外显子的-1395A/G多态性在辽宁地区汉族人群中的分布及其与先天性肛门直肠畸形(CAM)的关系.方法 采用PCR-RFLP方法,对65例CAM患儿和115名健康儿童EphB2基因-1395A/G多态位点进行基因型检测,用SHEsis在线统计软件分析等位基因频率、基因型频率及其组间差异.结果 EphB2受体基因第6外显子的-1395A/G多态A等位基因频率及AA基因型频率在CAM组(85.4%、75.4%)与正常对照组(17.0%、4.3%)间差异有显著统计学意义(P＜0.01).结论 EphB2受体基因第6外显子的-1395A/G多态与CAM存在相关性.     

肛门直肠畸形合并先天性巨结肠的诊治

目的 总结儿童先天性肛门直肠畸形(ARM)合并先天性巨结肠(HD)的临床特点,探讨其病因和适宜的诊治方法.方法 回顾性分析2004年1月至2008年4月6例ARM合并HD患儿的临床资料、诊治过程及预后情况.年龄1岁8个月～1I岁,平均4.1岁;男女比例1:5.所有病例于ARM矫正手术后有不同程度便秘、腹胀等症状,钡灌肠显示结直肠均有显著的扩张,仅有2例可见明确痉挛段和移行段.6例患儿直肠肛管测压直肠肛门抑制反射不能引出.2例采用经肛门Soave术式,4例采用经腹肛门Soave巨结肠根治术.结果 术后病理检查6例标本远端肠壁内均未见神经节细胞.免疫组化组织蛋白酶D:近段阳性,远端阴性.结论 对于ARM患儿,特别是对于ARM畸形矫正术后仍有便秘的患儿要警惕合并HD的可能.此外,ARM合并HD患儿往往同时存在有多种畸形,在胚胎发育过程中这些畸形的发生可能存在着一定的关联.     

直肠系膜全切除的解剖学基础

目的 探讨直肠系膜全切除(TME)的解剖学基础,明确TME的切除平面.方法 对23具尸体的盆腔进行解剖,观察直肠系膜与周围筋膜、神经的关系.结果 直肠周围的层次是连续的,可以分为3个层次,由内向外依次为脏筋膜、膀胱腹下筋膜、壁筋膜.层次之间存在不同的神经结构.结论 TME的切除应包括脏筋膜在内,解剖层次应为脏、壁筋膜之间,正确的层次在直肠后方可用腹下神经、侧方可用盆丛来加以判断.     

中国人直肠肛门畸形1262例分析

目的 了解中国人直肠肛门畸形基本状况及合并其他畸形的情况,为临床治疗提供参考资料。方法 １９８７￣１９９２年中国出生缺陷监测网以医院为基础在全国对孕２８周至产后７天的围产儿进行监测,对监测出的１２６２例直肠肛门畸形患儿进行流行病学分析。结果 中国人直肠肛门畸形的发病率为２．８１／万,全国各地发生率无显著差异,且发生率呈下降趋势。单发直肠肛门畸形５３１例,多发７３１例,其中尸解３０３例,直肠肛门畸形     

The mesorectum: morphometric assessment with magnetic resonance imaging

The purpose of the present study was to assess the size and configuration of the perirectal fatty tissues using magnetic resonance imaging, including the volume occupied by the rectum itself, and to establish a simple method by which such analysis could be derived. Included in the study were 25 consecutive patients without any large pelvic tumor (diameter of potential pelvic tumor less than 3 cm in any plane) referred for high-resolution pelvic MR imaging. The volume and cross-sectional parameters based on the amount of mesorectum to different sides of the rectum, and the total area occupied, including the rectum, were retrospectively measured using a transaxial three-dimensional T1-weighted gradient–echo sequence. The mesorectum, including the rectum within, occupied an axial area ranging from 320 to 5992 mm², and a total volume of 54–323 ml. There was a good correlation between anteroposterior diameter of the perirectal fat at 4 cm below S1-2 and the left-to-right diameter 7 cm below S1-2, and the total volume. Furthermore, the form of mesorectal tissue differed significantly between male and female subjects. In male subjects, measurements in the anteroposterior dimension accurately reflected the volume of mesorectal tissue, while in women, assessment of both the anteroposterior and the size parameters of the mesorectum from the left to right were required for the best evaluation of the volume of mesorectal tissue. The amount of fat posterior to the rectum was significantly more in men than in women, with or without consideration of length of the pelvis. Finally, the contour of the mesorectal fascia was subject to impression by other nearby visceral organs. There is a great individual variation in the amount of mesorectal fat, and in morphometric parameters between the two sexes. The morphological variations of the mesorectum can be assessed by magnetic resonance imaging using a formula based on two simple measurements of the anteroposterior and left-to-right dimensions.     

高位和中间位肛管直肠畸形的治疗选择

目的 评价新生儿期后矢状路肛门直肠成形术（PSARP）治疗高位和中间位肛管直肠畸形的安全性、可行性及长期效果。方法随访113例高位和中间位肛管直肠畸形患儿,其中48例手术分Ⅲ期（结肠造瘘-后矢状路肛门直肠成形术关瘘,A组）,65例新生儿期行后矢状路肛门直肠成形术（B组）。根据改良Wingspread评分方法,肛管直肠功能分为“优”、“良”、“一般”和“差”。根据钡灌肠,肛管直肠角分为“清晰”、“模糊”、“无”;同时观察钡剂向外泄漏情况。肛管直肠测压测定肛管静息压,肛管收缩压及肛管直肠反射。结果A组,58．3％（28／48）的病例表现“优”或“良”;钡灌肠,85．4％（41／48）的病例显示肛管直肠角“清晰”,10．4％（5／48）的病例有钡剂外泄。B组,53．8％（35／65）的病例表现“优”或“良”;83．1％的病例显示肛管直肠角“清晰”,7．7％（5／65）的病例有钡剂外泄。早期手术并发症,A组为56．3％（27／48）,其中39．6％（19／48）与结肠造瘘有关;B组为29．2％（19／65）。A组与B组便秘发生率分别为47．9％（23／48）和44．6％（29／65）,污粪为47．9％（23／48）和50．8％（33／65）。结论新生儿期后矢状路肛门直肠成形术（PSARP）治疗高位和中间位肛管直肠畸形是安全可行的,且长期效果与Ⅲ期PSARP手术相同。     

Preoperative staging of rectal cancer by MRI; results of a UK survey

AIM: To determine current day-to-day practice of and access to preoperative MRI for patients with rectal cancer in the UK, with the aim of identifying constraining factors. MATERIALS AND METHODS: A questionnaire asking for details of rectal cancer workload, multidisciplinary team (MDT) practice, preoperative MRI, the use of alternative imaging methods where appropriate, and an assessment of local access to MRI, was mailed to 283 UK departments of radiology. Replies were received from 142 departments (50.2% response rate). These were collated and response frequencies were determined. RESULTS: According to their replies, 135 (95%) of respondents always discussed rectal cancer cases within the context of an MDT, usually including a radiologist. Only 49% of respondents attempted to offer preoperative MRI to all rectal cancer patients, and 35% of respondents used MRI in less than 25% of cases. Of the 142 respondents, 73 (51%) felt their practice was currently constrained by lack of MR resources. The most frequently cited constraint was an available but over-subscribed MRI scanner. Limited radiology manpower was the next most frequently cited constraint. A significant minority stated that no MRI scanner was available. CONCLUSIONS: The MDT is a well established forum for the discussion of patients with rectal cancer, and a radiologist is usually involved. However, in the face of current guidelines, less than 50% of the units studied were able to offer preoperative MRI to all of their rectal cancer cases. Improved access to MRI and increased radiological manpower are necessary if current management guidelines are to be observed.     

Distribution of mesorectal lymph nodes in rectal cancer: in vivo MR imaging compared with histopathological examination. Initial observations

The aim of this work was to determine the distribution of mesorectal lymph nodes using T₂-weighted magnetic resonance (MR) imaging compared with histopathological findings in patients with rectal carcinoma. Sixteen patients with rectal carcinoma undergoing primary surgery without pre-operative neoadjuvant treatment were evaluated using 3-mm axial T₂-weighted MR imaging. The position of each visible mesorectal node on imaging was localised by measuring its minimum distance from the mesorectal fascia (d_m), its minimum distance from the rectal wall (d_r) and its distance from the distal tumour margin (d_v). Independent assessment of d_m, d_r and d_v was made at histopathological examination. Eighty-five mesorectal nodes on in vivo MR imaging were matched to histopathological findings. On imaging, 67/85 mesorectal nodes were found at the level of the tumour and 84/85 were identified at or within 5 cm proximal to the tumour. Only one out of 85 nodes was seen below the inferior tumour margin. The mean difference of d_m and d_r obtained on in vivo MR imaging and histopathological examination was 0.7 mm (95% confidence interval, CI, –0.12 to 1.42 mm) and –1.1 mm (95% CI –2.29 to 0.14 mm), respectively. Almost all mesorectal nodes visible on MR imaging were found at the level of tumour or within 5 cm proximal to the tumour. This has implications for the planning of MR imaging and the level of mesorectal transection at surgery.