经脐腹腔镜与常规腹腔镜治疗先天性巨结肠的疗效观察

目的 比较经脐腹腔镜与常规腹腔镜结肠切除术治疗先天性巨结肠(HD)的疗效.方法 2009年9月至2011年12月采用腹腔镜治疗的HD患儿共111例,按手术方式不同分为2组:经脐腹腔镜组(66例)和常规腹腔镜组(45例),比较2组患儿术前一般情况,术中情况,术后并发症及术后1年患儿的排便情况.结果 左半结肠切除患儿中,经脐腹腔镜组与常规腹腔镜组患儿的年龄和体质量、术中出血、术后住院时间等指标比较差异均无统计学意义(P均＞0.05);但经脐腹腔镜组的手术时间较常规腹腔镜组的时间明显缩短(P＜0.05);结肠次全切除患儿中,经脐腹腔镜组与常规腹腔镜组患儿手术年龄、体质量、手术时间、术中出血、术后住院时间比较差异均无统计学意义(P均＞0.05).患儿均行一期根治术,无中转开腹及死亡病例.经脐腹腔镜组发生小肠结肠炎9例(13.6％),常规腹腔镜组7例(15.6％).经脐腹腔镜组中28例,常规腹腔镜组中12例随访1年,其中经脐腹腔镜组较常规腹腔镜组腹胀情况可见明显优势(P＜0.05),其余指标未见明显差异(P＞0.05).经脐腹腔镜组患儿术后腹部未见明显手术瘢痕,其美容效果好于常规腹腔镜组.结论 经脐腹腔镜手术治疗HD,不仅能获得常规腹腔镜手术同样的效果,且减小了手术对患儿的创伤.     

单切口腹腔镜辅助腹膜外鞘状突未闭结扎术的学习曲线

目的评估不同年资的医师在不同时期行单切口腹腔镜辅助腹膜外鞘状突未闭结扎术的手术效果,探讨该技术的学习曲线。方法回顾性分析2013年1月至2015年1月间我科同一手术团队6名医师完成的120例该术式的手术资料。根据主刀医师已从事腹腔镜手术的年资分为A组(年份3年,3位医师)、B组(年份3年,3位医师)。每位医师取完成的前20例患者,各组按手术时间顺序分为4阶段(每组15例/每阶段),分别比较各组病例的手术时间、术中出血量、中转开放手术率、术后住院时间、短期及长期并发症情况,制定学习曲线。结果各组间年龄差异无统计学意义,术中出血均小于10 mL,无中转开放手术病例,均于术后次日出院,4例出现短期并发症,均无长期并发症发生。A组医师手术时间第2~4阶段明显短于第一阶段;B组医师手术时间第3~4阶段明显短于第1~2阶段。结论具有一定腔镜手术基础的医师,单切口腹腔镜辅助腹膜外鞘状突未闭结扎术的学习曲线约为5例;腔镜手术基础欠丰富的医师,该手术的学习曲线约为10例。单切口腹腔镜辅助腹膜外鞘状突未闭结扎术治疗小儿腹股沟斜疝或鞘膜积液安全有效、美观微创、操作简单、易于掌握,值得推广普及。     

先天性巨结肠与其同源病的RET基因突变的研究

目的 了解先天性巨结肠与巨结肠同源病RET基因突变及其突变的差异。方法 30例散发性先天性巨结肠，14例巨结肠同源病，10例正常对照。取外周血，提取DNA，聚合酶链反应(PCR)扩增RET基因第13外显子；单链构象多态(SSCP)分析外显子突变，并通过测序明确突变的位点和类型。结果 30例散发性先天性巨结肠RET基因13外显子检测5例存在基因突变，共发现三种突变类型：有3例在碱基18888位点，胸苷酸残基T被鸟苷酸残基G置换，导致亮氨酸的静默突变；有1例在碱基18919位点，腺苷酸残基A被鸟苷酸残基G置换，导致赖氨酸突变为谷氨酸，为错义突变；有1例在碱基18974位点，插入一个鸟苷酸残基G，导致框架移位突变。RET基因13外显子突变率为16.7％(5／30)。巨结肠同源病和正常对照组未见RET基因13外显子突变。结论 先天性巨结肠与RET基因突变有关，而巨结肠同源病未发现RET基因突变，提示这两种疾病具有分子遗传学差异。     

Evaluation and management of persistent problems after surgery for Hirschsprung disease in a child

Hirschsprung disease occurs approximately once in every 5000 live-born infants. It is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Once the diagnosis of Hirschsprung disease has been made, most patients are now treated with a transanal approach to resection. We review the early and late postoperative complications. Late complications include persistent mechanical obstruction, recurrent or acquired aganglionosis, disordered motility in the proximal colon or small bowel, internal sphincter achalasia, or functional megacolon caused by stool-holding behavior. These children require complex interdisciplinary care to ensure an adequate quality of life.     

Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung disease vs non-hirschsprung disease

Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when suction rectal biopsy is used to investigate chronic constipation in Down syndrome.     

Visualisation of the rectoanal inhibitory reflex with a modified contrast enema in children with suspected Hirschsprung disease

Background

Patients with Hirschsprung disease lack the normal rectoanal inhibitory reflex, which can be studied with anorectal manometry or US.

Objective

To see whether the rectoanal inhibitory reflex could be visualised with a modified contrast enema, thereby increasing the diagnostic accuracy of the contrast enema and reducing the number of rectal biopsies.

Materials and methods

Fifty-nine boys and 42 girls (median age, 12 months) with suspected Hirschsprung disease were examined with a modified contrast enema, supplemented with two injections of cold, water-soluble contrast medium, to induce the reflex. Two paediatric radiologists evaluated the anonymised examinations in consensus. The contrast enema findings were correlated with the results of rectal biopsy or clinical follow-up.

Results

Five boys and one girl (median age, 7.5 days) were diagnosed with Hirschsprung disease. The negative predictive value of the rectoanal inhibitory reflex was 100%. A contrast enema with signs of Hirschsprung disease in combination with an absent rectoanal inhibitory reflex had the specificity of 98% and sensitivity of 100% for Hirschsprung disease.

Conclusion

The modified contrast enema improves the radiological diagnosis of Hirschsprung disease. By demonstrating the rectoanal inhibitory reflex in children without Hirschsprung disease, we can reduce the proportion of unnecessary rectal biopsies.     

Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease

Although most children with Hirschsprung disease ultimately do well, many experience a variety of ongoing problems after pull-through surgery. The most common include obstructive symptoms, soiling, enterocolitis and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative obstructive symptoms in children with Hirschsprung disease. The American Pediatric Surgical Association Board of Governors established a Hirschsprung Disease Interest Group. Group discussions, literature review and expert consensus were then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with obstructive symptoms following pull-through for Hirschsprung disease. Causes of obstructive symptoms post-pull-through include mechanical obstruction; persistent or acquired aganglionosis, hypoganglionosis, or transition zone pull-through; internal sphincter achalasia; disordered motility in the proximal intestine that contains ganglion cells; or functional megacolon caused by stool-holding behavior. An algorithm for the diagnosis and management of obstructive symptoms after a pull-through for Hirschsprung disease is presented. A stepwise, logical approach to the diagnosis and management of patients experiencing obstructive symptoms following pull-through for Hirschsprung disease can facilitate treatment. Level of evidence V.     

结肠次全切除术治疗巨结肠同源病23例

目的探讨小儿巨结肠同源病(HAD)的诊断和治疗方法。方法回顾性分析23例巨结肠同源病的病例资料,男8例,女15例,年龄5个月～16岁,其中5个月～3岁4例,3～16岁19例。患儿均以便秘、腹胀为主诉,术前常规行钡灌肠、直肠肛管测压检查。其中11例行直肠粘膜活检术;5例因肠梗阻行结肠造瘘术;3例为先天性巨结肠术后复发便秘。结果全部病例均行腹会阴Soave法结肠次全切除术。23例中,钡剂灌肠均未见明显狭窄段、移行段,24h延迟拍片提示钡剂滞留;部分病例有结肠扩张和结肠冗长表现;直肠肛管测压均有抑制反射,11例直肠粘膜活检AchE阴性。23例术后病理诊断与术前诊断一致。术后均有不同程度腹泻,1例出现伤口裂开,2例直肠粘膜脱垂,2例粘连性肠梗阻;无吻合口瘘、肌鞘感染等并发症。结论腹会阴Soave法结肠次全切除术是治疗HAD较为彻底的术式。     

先天性巨结肠及其同源病诊断热点讨论

目的 探讨先天性巨结肠及其同源病定义、病理诊断方法及标准.方法 记录2015年10月在武汉同济医院小儿外科召开的先天性巨结肠(Hirschsprung's disease,HD)及其同源病临床与病理国际高峰论坛峰会病理分会中的热点问题及展开的深入讨论,并进行归纳总结.结果 直肠黏膜活检AchE染色被一致认可为术前诊断的金标准.巨结肠切除术中活检是必需的,但染色方法的选择未有统一.作为传统方法,单纯HE染色的精确性受到了质疑,普遍认为需要同时进行其他染色,而具体染色方法因各自习惯而异.目前缺乏大样本的正常新生儿和儿童肠道发育各项数据,因此对于神经节细胞减少症,神经元发育不良的诊断标准尚有争论.肠神经元发育不良(intestinal neuro-nal dysplasia,IND)是不是一种疾病实体,是原发性还是继发性疾病未有定论.病理发现的各类非神经节病变目前还不清楚应该如何定义和归类,因此更要求病理专家应对其作出详尽描述.结论 国内外对巨结肠及其同源病在定义、病理诊断方法及标准上有一定共识,但部分争论热点由于缺乏理论和实践数据支撑而未有统一结论,而这些热点必将成为将来研究的新方向.     

A single-incision laparoscopic technique for retrieval and replacement of disconnected ventriculoperitoneal shunt tubing found in the peritoneum

A 7-year-old girl presented with signs and symptoms of increased intracranial pressure 2 years after insertion of a ventriculoperitoneal (VP) shunt. Evaluation revealed disconnection of the distal shunt catheter and migration into the peritoneal cavity. A single-incision laparoscopic procedure was performed to locate and remove the disconnected shunt tubing, and the new shunt catheter was inserted through the laparoscopic port site. Laparoscopy is being used more frequently for evaluation and repair of distal VP shunt malfunctions, but generally still requires multiple incisions for port placement and insertion of the new shunt catheter. The single-incision technique used here is technically feasible, allows excellent visualization of the peritoneal cavity and does not require any incisions beyond the previous one used for initial shunt insertion.     

Mortality in Swedish patients with Hirschsprung disease

Purpose

Hirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort.

Methods

This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was death. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register. Mortality and cause of death were assessed using the Swedish National Causes of Death Register.

Results

The cohort comprised 739 individuals with HSCR (565 male) and 7390 controls (5650 male). Median age of the cohort was 19 years (range 2–49). Twenty-two (3.0%) individuals with HSCR had died at median age 2.5 years (range 0–35) compared to 49 (0.7%) controls at median age 20 years (0–44), p < 0.001. Hazard ratio for death in HSCR patients compared to healthy controls was 4.77 (confidence interval (CI) 95% 2.87–7.91), and when adjusted for Down syndrome, the hazard ratio was 3.6 (CI 95% 2.04–6.37).

Conclusions

The mortality rate in the HSCR cohort was 3%, which was higher than in controls also when data were adjusted for Down syndrome.

     

Crohn's disease in children. Preliminary experience with a laparoscopic approach.

BACKGROUND: Laparoscopic surgery in patients with Crohn's disease (CD) has been demonstrated to have advantages over a conventional approach in children. The aim of this study was to review the children treated for CD with a laparoscopic approach, to report our indications, the surgical procedure, the complications, and to compare the children with pancolitis or ileocaecal (segmental) Crohn's disease. PATIENTS AND METHOD: We reviewed the files of 11 children treated for CD in a single institution between 1999 and 2004 for a retrospective study of clinical and surgical data. Mann-Whitney U-test was used for statistical analysis of nonparametric data. RESULTS: Eleven children were operated. The average age when initial clinical symptoms became apparent was 12.1 years (range 6.6 - 15), and surgery was performed after an average of 3.4 years of disease (range 1 - 7.6). The surgical indications were stenosis in 6 cases, failure to thrive in 1 case (segmental CD, SCD group) and pancolitis refractory to medical treatment in 4 cases (pancolitis group, PCD group). Mean operative time was 207 minutes (range 140 - 270) for the SCD group and 285 minutes (range 260 - 300) for the PCD group (p < 0.05). Three cases needed a conversion to open surgery (2 in PCD group, one in SCD group), mainly in relation to anastomosis performed with an EEA stapler. The average length of surgical unit stay was 6.5 days (range 4 - 8) for the PCD group and 6.4 days (range 4 - 8) for the SCD group; average follow-up was 16 months (range 3 - 38). Two patients had a relapse of CD (stenosis of the anastomosis in one, skin fistula in the other). CONCLUSION: A laparoscopic approach for ileocolic resection in Crohn's disease is a feasible procedure, even in cases of pancolitis. We recommend an extra-corporeal anastomosis because, in relation to the inflammatory bowel, the mechanical anastomosis is not a safe procedure in cases of pancolitis.