巨结肠,先天性

摘要： 目的 评估先天性巨结肠初次根治术后因中远期并发症而再次手术的原因,总结手术方法并评估其预后.方法 收集2016年1月至2020年1月收治于首都儿科研究所附属儿童医院普通外科的37例因先天性巨结肠初次根治术后发生中远期并发症而再次接受手术治疗的患儿.其中,男29例,女8例,男女比为3.625∶1;再次手术年龄为(3.8±2.4)岁,范围为9个月至12岁;初次根治手术年龄范围为4 d至6岁(本院4例,外院33例).初次手术采用单纯经肛门根治术6例,腹腔镜辅助根治术16例,开腹手术15例.肛门直肠手术技术:外院患儿中,32例采用Soave-like技术,1例采用心形吻合技术;本院4例均采用内括约肌部分切除术(transanal rectal mucosectomy and partial in-ternal anal sphincterectomy,TRM-PIAS).再次手术原因:病变段残留19例,吻合口瘢痕狭窄5例,各种瘘管形成8例(直肠阴道瘘2例,高位复杂肛瘘4例,直肠舟状窝瘘1例,直肠尿道瘘1例),拖出肠管扭转3例,回盲部卡压梗阻1例,过长的肌鞘狭窄1例.再手术所采用的手术方式:采用腹腔镜或开腹辅助经肛门巨结肠根治术,肛门直肠手术技术采用经肛门直肠黏膜切除、TRM-PIAS法.本研究将术后随访时间满1年的24例患儿分为两组,其中将12例结肠肛管吻合患儿作为组一,将12例回肠肛管吻合患儿作为组二;同样选取两组患儿作为对照组,其中将既往经一次腹腔镜辅助根治手术的常见型和短段型的37例先天性巨结肠患儿作为对照组一,将既往经一次根治手术的33例全结肠型巨结肠患儿作为对照组二.将组一和对照组一,组二和对照组二,分别进行对比以评估预后.结果 所有患儿均顺利完成手术,一期根治手术34例(结肠肛管吻合20例,回肠肛管吻合12例,结肠肛管吻合+回肠瘘口还纳2例);分期手术3例(根治术后3～6个月关瘘).其中腹腔镜手术12例;腹腔镜松解直肠后转开腹手术14例;开腹手术11例.手术时间范围为120～240 min;出血量范围为5～20 ml;术后住院时间范围为7～14 d.短期并发症为粘连肠梗阻1例,吻合口裂开1例.组一发生污粪的例数显著高于对照组一,差异具有统计学意义(P=0.008),组二的污粪发生例数显著高于对照组二,差异具有统计学意义(P=0.007);组二发生小肠结肠炎的例数显著低于对照组二,差异具有统计学意义(P=0.02).其余各项对比,差异无统计学意义.组一和组二患儿在术后均无吻合口狭窄、直肠黏膜脱垂、瘘管复发、尿潴留和尿失禁发生.结论 对于先天性巨结肠初次根治术后出现并发症的患儿进行再次手术治疗是安全有效的,术后效果较满意.

摘要： Objective To explore the maternally expressed gene 3 (MEG3) expression of Hirschsprung's disease (HSCR) colon tissues and matched normal controls,observing the affect of MEG3-overexpression in human neuroblastoma cell line SK-N-BE (2),a cell model of HSCR,and elucidate the effect and mechanisms of MEG3 in HSCR.Methods Real-time fluorescence quantitative (RT-qPCR) was utilized for detecting the MEG3 expression levels in 17 HSCR colonic tissues and matched normal controls.Cell culture and transfection technique were employed for transfecting MEG3-overexpression plasmid into SK-N-BE (2) cells.And the groups of MEG3-overexpression,blank vector transfection and control were assigned.The effects of proliferation,cloning,invasion and apoptosis on MEG3-overexpression SK-N-BE (2) cells were examined by CCK-8,Edu cell proliferation assay,Transwell technique and flow cytometry.Results The expression of MEG3 was 1.783 ± 0.249 in HSCR group and 0.962 ± 0.101 in control group.Edu cell proliferation assay:the cells were (69.7 ± 11.3),(74.8 ± 9.6) and (37.5 ± 8.1);Transwell assay:(67.7 ± 8.1),(70.5 ± 10.3) and (31.6 ± 5.2);Cell apoptosis:(24.99 ± 2.78)％,(22.11 ± 2.58)％ and (42.75 ± 5.95)％ in blank vector,control and MEG3 groups respectively.The expression of MEG3 was up-regulated in study cases as compared with controls (P＜0.01).The proliferation,cloning and invasiveness significantly decreased in MEG3-overexpression SK-N-BE (2) cells as compared with controls (P＜0.01) while apoptosis increased significantly (P＜0.01).Conclusions The expression level of MEG3 is abnormal in HSCR.And MEG3 may affect cell proliferation,invasion and apoptosis of SK-N-BE (2).%目的 观察母系表达基因3(maternally expressed gene 3,MEG3)在小儿先天性巨结肠(Hirschsprung's disease,HSCR)病变组织中的表达情况,并通过过表达MEG3对人神经母细胞瘤细胞SK-N-BE(2)的影响,探讨MEG3在HSCR中的作用机制及意义.方法 用RT-qPCR方法检测17例HSCR患儿病变结肠组织和17例正常结肠组织中MEG3的表达量,应用细胞培养及转染技术,在SK-N-BE(2)细胞中转染MEG3过表达质粒,并设立高表达组、空载体组及对照组,应用CCK-8、Edu、Transwell、流式细胞实验等方法检测过表达MEG3对SK-N-BE(2)细胞增殖、克隆、侵袭及凋亡的影响.结果 RT-qPCR实验中,HSCR组中MEG3的表达量为1.783±0.249,对照组为0.962±0.101;Edu细胞增殖实验中,空载体组增殖细胞数为(69.7±11.3)个,对照组为(74.8±9.6)个,MEG3组为(37.5±8.1)个;Transwell实验中,空载体组跨膜细胞数为(67.7±8.1)个,对照组为(70.5±10.3)个,MEG3组为(31.6±5.2)个;细胞凋亡实验中,空载体组细胞凋亡率为(24.99±2.78)％,对照组为(22.11±2.58)％,MEG3组为(42.75±5.95)％.HSCR患儿病变结肠组织中MEG3表达量较正常结肠组织中表达量明显升高(P＜0.01),MEG3过表达质粒转染SK-N-BE(2)细胞的增殖、克隆以及侵袭能力与空载体组及对照组比较明显降低(P＜0.01),而凋亡明显增加(P＜0.01).结论 MEG3在HSCR患儿病变组织中表达异常,可能影响SK-N-BE(2)的增殖、侵袭和凋亡,参与巨结肠发病.

摘要： 目的 通过比较先天性巨结肠患儿术前钡灌肠检查与术后病理诊断的结果,探讨术前钡灌肠检查在先天性巨结肠的诊断,特别是确定肠管病变范围中的应用价值.方法 本研究为单中心横向研究,研究对象为2014年1月至2015年1月入我院诊断为先天性巨结肠的患儿,钡灌肠检查显示明显狭窄段、移行段及扩张段的病例最终被纳入本次研究.在术中根据钡灌肠中移行段的前、后5 cm分别取全层肠壁,利用PGP9.5染色检测其中神经节细胞,并以此作为金标准.如果病理检查提示无神经节细胞即为阳性,反之存在神经节细胞即为阴性.统计得出钡灌肠检查应用于明确肠管病变范围的敏感性、特异性、阳性预测值以及阴性预测值.结果 共计56例纳入本次研究,平均年龄为13.7个月.利用钡灌肠显示的移行段明确术中肠管切除范围的敏感度为86.9％,特异度为94.1％,阳性预测值为94.6％,阴性预测值为85.7％,约登指数为81％.一致性检验Kappa值=0.804,P＜0.001.其中钡灌肠显示短段型巨结肠的最终病理诊断符合率为77.8％;常见型巨结肠的最终符合率为88.9％,长段型巨结肠的最终符合率为66.7％.结论 钡灌肠对于诊断先天性巨结肠具有很好的预测价值,而且对于术中确定肠管病变范围也具有实际指导意义.%Objective To explore the diagnostic value of barium enema film for Hirschsprung's disease (HD) and examine the correlation between radiological transition zone (TZ) and final pathology.Methods For this single-center cross-sectional study, a total of 56 patients with suspected HD undergoing barium enema and primary pull-through operations from January 2013 to January 2014 were reviewed.According to barium enema, full-thickness bowel wall biopsies were performed before and after 5 cm of transitional zone.And the gold standard was detecting ganglion cell by PGP 9.5 staining.If aganglionosis was considered positive whereas ganglionosis negative.The diagnostic parameters of sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of barium enema in the range of HD were analyzed by statistical software.Results Their average age was 13.7 months.The sensitivity of barium enema film was 86.9％ and specificity 94.1％.The value of PPV was 94.6％ and that of NPV 85.7％.Youden index was 81％.Consistency checking Kappa value was 0.804 (P＜0.001).The diagnostic coincidence rate was 77.8％ in short-segment HD, 88.9％ in normal-segment HD and 66.7％ in long-segment HD.Conclusions With a high diagnostic predictive value for HD, barium enema film is useful for confirming the involvement extent of aganglionosis bowel.

摘要： 目的 探索从人类先天性巨结肠患儿的扩张段肠管提取肠神经干细胞的可行性,为进一步开展先天性巨结肠的神经干细胞自体移植治疗研究提供依据.方法 利用1例先天性巨结肠手术切除的扩张段肠管,进行酶消化后,制成单细胞悬液,经体外培养形成神经球,并通过CCK8法检测肠神经干细胞在24 h、48 h、72 h、96 h、120 h和144 h六个时间点的OD值,绘制生长曲线,记录增殖情况,通过Nestin、GFAP和TUJ-1细胞免疫荧光化学染色对肠神经干细胞及其分化而来的神经元和神经胶质细胞进行鉴定.结果 来自扩张段肠管的单细胞悬液通过原代体外培养10d,可见神经球形成;肠神经球随时间逐渐变大,CCK8法观察肠神经干细胞的OD值随时间而逐渐增高;形成的神经球可以继续传代,经细胞免疫荧光化学染色为Nestin染色阳性,并可分化为神经胶质细胞(GFAP染色阳性)和神经元细胞(TUJ-1染色阳性).结论 能从人类先天性巨结肠患儿的扩张段肠管提取具有自我更新能力的肠神经干细胞,可用于先天性巨结肠的神经干细胞自体移植治疗研究.%Objective To explore the possibility of isolating and culturing in vitro enteric neural stem cells from gut in children with Hirschsprung’s disease (HD) and provide experimental rationales for treating HD with neural stem cell transplantation.Methods Human gut samples were obtained from one child aged 1 l months after pull-through surgery due to HD.After enzyme digestion, single cell suspensions were isolated from postnatal human myenteric plexus.The cells were seeded into serum-free medium and generated neurospherelike bodies in vitro.Cell proliferation was observed by the curve of optic density (OD) from CCK8 test at the timepoints of 24, 48, 72, 96, 120 and 144h and growth curve diagram plotted.And neurospheres and differentiated cells with immunofluorescent staining of nestin were identified by neuron-specific beta III tubulin (TUJ-1) and glial fibrillary acidic protein (GFAP).Results Single cells from colonic muscle formed neurospheres after culturing for 10 days and these neurospheres could be subcultured and maintained for several weeks in vitro.The OD values of CCK8 test increased progressively.Existing neurospheres, identified as nestin positive cells, could be passaged and differentiated into glial cells (GFAP positive) and neurons (TUJ-1 positive).Conclusions Enteric neural stem cells may be obtained from human postnatal gut in patients with HD.And it is a potential source of autologous neural stem cells for stem cell transplantation therapy.

摘要： 目的 评价腹腔镜辅助治疗小儿长段型巨结肠的远期疗效.方法 对2001年9月至2009年12月在本院行腹腔镜治疗的长段型巨结肠患儿的临床资料进行回顾性分析,包括一般资料、手术方式、术后并发症、后续治疗及随访结果.随访内容包括排便控制、便秘和小肠结肠炎的发病情况等.结果 8年间共治疗长段型巨结肠患儿65例,男48例,女17例,一期手术26例(一期手术组),二期手术39例(二期手术组).术后早期严重并发症包括吻合口漏1例,拖出肠管扭转1例.主要中期并发症为便秘5例(IND4例,获得性巨结肠1例).术后小肠结肠炎发生率两组相近(一期手术组15.4％,二期手术组10.3％).一期手术组再手术率26.9％,再拖出手术率19.2％,二期组再手术率7.7％,再拖出手术率2.6％.术后随访5年以上病例51例(一期手术组19例,二期手术组32例).大多数患儿排便3d1次至4次/d,污粪3例(5.9％),无大便失禁.便秘2例(3.9％).两组远期排便功能Reding评分相近(优:一期手术组73.7％,二期手术组75.0％;良:一期手术组26.3％,二期手术组25.0％).29例来院复查钡灌肠及肛门直肠测压检查,均未引出肛门直肠抑制反射,2例便秘患儿(合并IND)回盲部扩张明显,3例污粪患儿钡灌肠造影及肛门直肠测压过程中可见钡剂和灌注液外溢,此5例患儿(便秘2例,污粪3例)肛管静息压低于其他患儿.结论 腹腔镜手术辅助根治长段型巨结肠术后可获得较好的排便控制功能,对新生儿、婴儿长段型HD推荐二期手术.%Objective To evaluate the long-term outcomes of laparoscopic-assisted endorectal pull-through (LAPT) for long-segment type Hirschsprung' s disease (HD).Methods From September 2001 to December 2009, a total of 65 patients with long-segment HD undergoing LAPT were recruited.There were 48 males and 17 females.And major postoperative complications, subsequent treatment, present bowel function and anal sphincter performance were analyzed.Results LAPT was all successfully performed.Twenty-six and 39 patients underwent primary operation (PP) and two-stage operation (SP) respectively.Early severe postoperative complications included anastomotic leakage (n =1) and twisted pull-through (n =1).And major mid-term complications were recurrent constipation due to residual intestine with dysplastic neuron (IND, n =4) or acquired aganglionosis (n =1).The incidence of postoperative enterocolitis was similar in both groups (PP: 15.4％ vs SP..10.3％).The incidence of reoperation was 26.9％ in PP and 7.7％ in SP.And that of redo pull-through was 19.2％ and 2.6％ respectively.Fifty-one patients(PP, n =19;SP, n =32)were followed-up for over 5 years.None developed fecal incontinence.However, soiling and constipation occurred in 3 (5.9％) and 2 (3.9％) respectively.The long-term anal functional outcomes of two groups were similar according to the Reding scoring system.For those with good bowel function, it was 73.7％ in PP and 75.0％ in SP.Among 51 patients, twenty-nine were evaluated with anoreCtal manometry and barium enema.All 29 patients had a negative rectoanal relaxation reflex.Among 5 patients with low anal resting pressure, 2 constipated ones with IND showed a marked dilatation of ileocecal junction and the remainder had barium or endorectal irrigation solution spilling during contrast enema or anorectal manometry.Conclusions Surgical patients with long-segment of HD via LAPT may achieve fair long-term bowel functions.And SP is recommended for neonates and infants with long-segment HD.

摘要： 目的 了解国内部分地区小儿外科某些重大疾病术前贫血与干预状况,为进一步开展小儿围术期血液管理提供依据.方法 研究单位分别选择2012年5月至2014年3月期间住院的非紫绀先天性心脏病、先天性巨结肠和胆总管囊肿患儿做回顾性问卷调查.纳入标准:最接近手术日的术前血常规报告血红蛋白(Hb)值低于120 g/L即诊断贫血.干预措施指对术前贫血是否采用输血或补充促红细胞生成素(rHuEPO)、铁剂、维生素等等.结果 共调查北京、上海、杭州、西安、深圳和成都地区6家医院874例患儿.其中先天性心脏病组458例,男282例,女176例;年龄2个月至13.5岁,平均(28.58±29.79)个月.Hb低于120 g/L有276例,总发生率为60.3％,其中轻度贫血(Hb＜120 g/L,≥90 g/L)为58.1％(266/458),中度以上贫血(Hb＜90 g/L)为2.2％(10/458).福利院、小于1岁或/和肺动脉高压的患儿贫血发生率分别明显高于总发生率(P=0.008、P＜0.001、P＜0.001);普外组416例中,男204例,女212例,年龄2个月至16.25岁,平均(28.60±32.30)个月.Hb低于120 g/L有331例,总发生率为79.6％,其中轻度贫血为71.4％(297/416),中度以上贫血为8.2％(34/416).术前贫血发生率各个地区存在明显差异,从50％到100％不等;对术前贫血不处理直接手术的比例达到89.1％以上;除个别医院术前采用rHuEPO,较少有其他干预措施.结论 国内部分地区小儿外科某些重大疾病术前贫血发生率较高,不干预直接手术的状况十分普遍,应引起重视.%Objective To explore the incidence of preoperative anemia and intervention status of some major pediatric surgical diseases in some domestic areas so as to provide scientific rationales for perioperative blood management in children.Methods The hospitalized patients with non-cyanotic congenital heart disease,Hirschsprug's diseaseor choledochal cyst from May 2012 to March 2014 at all study units were surveyed retrospectively by a standard questionnaire.The preoperative hemoglobin (Hb) of routine blood test report closest to the operation day was collected.Anemia was diagnosed as having a level of Hb under 120 g/L.The intervention measures of anemia referred to blood transfusion or supplemental erythropoietin (rHuEPO),iron and vitamins,etc.Results A total of 874 patients at six hospitals in Beijing,Shanghai,Hangzhou,Xi'an,Shenzhen and Chengdu were surveyed.Among congenital heart disease group (n =458),there were 282 boys and 176 girls with a mean age of 28.58 ±29.79 months.The total incidence rate of anemia was 60.3％ (276/458),mild anemia 58.1％ (266/458) and moderate anemia 2.2％ (10/458).The incidence of anemia for children from welfare homes or less than 1 year of age or/and with pulmonary hypertension was significantly higher than that of total incidence rate (P =0.008,P＜0.001-,P＜0.001) ; Among general surgery disease group (n =416),there were 204 boys and 212 girls with an average age of 28.60 ± 32.30 months.The total incidence rate of anemia was 79.6％ (331/416),mild anemia 71.4％ (297/416) and moderate anemia 8.2％ (34/416).The incidence of preoperative anemia differed in each area,ranging from 50％ to 100％.The ratio of direct operation without any intervention measure for preoperative anemia reached over 89.1％.Except for preoperative use of rHuEPO at one hospital,few other interventions were adopted.Conclusions In some domestic areas,the incidence of preoperative anemia is relatively high for some major pediatric surgical diseases.The status of non-intervention for preoperative anemia is quite common.This phenomenon should raise a high alert.

摘要： 目的:探讨RET基因13号外显子的基因多态性改变与肠无神经节细胞症(HSCR)的发生关系.方法:提取74例HSCR患者和53例与胃肠道疾病无关的对照组病人的全血DNA,聚合酶链反应(PCR)扩增RET基因13号外显子,纯化,应用直接测序方法分析13号外显子的基因表达情况.结果:在HSCR组与对照组中,RET基因13号外显子存在T769G基因多态性改变,其基因型频率在HSCR组中为GG78.27％,GT18.93％,TT2.8％;在对照组中为GG58.5％,GT15.1％,TT26.4％.等位基因频率在HSCR组中为G:87.84％,T:12.16％;在对照组中为G:66.0％,T:34.0％.两组的基因型和等位基因频率差异均有统计学意义(x2=18.383,P＜0.001;x2=19.834,P＜0.001).结论:RET基因13号外显子的T769G基因多态性改变与先天性巨结肠的发生可能相关.

摘要： Objective To study the expressions of Ghrelin and its receptor (GHSR) in the patients with Hirschsprungs disease (HD).Methods Eighteen patients who were diagnosed with HD and underwent transanal pull-through procedure were recruited in this study.The resected colon was collected to study the expressions of Ghrelin and GHSR by immunohistochemistry staining.Results Ghrelin and GHSR protein were consistently expressed in the glandular epithelium and villi of the ganglionic colon.In the aganglionic segment,the expressions of Ghrelin and GHSR were significantly reduced (Ghrelin:0.1460 ± 0.014,GHSR:0.1386 ± 0.016).However,the expressions of Ghrelin and GHSR were restored in the dilated segment of colon (Ghrelin..0.5103 ± 0.013,GHSR..0.5094 ±0.019).Moderate expressions of Ghrelin and GHSR were found in the transition zone.In the same tissue of colon,the expression of Ghrelin was not significantly different from that of GHSR (P＞0.05).Conclusions The expressions of Ghrelin and GHSR are reduced in the aganglionic colon of the patients with HD.%目的 观察Ghrelin及受体GHSR蛋白在先天性巨结肠(HD)狭窄段、移行段及扩张段的表达变化及意义.方法 18例先天性巨结肠患儿中男11例,女7例,年龄28 d～6岁.短段型4例,普通型12例,长段型2例.均采用经肛门巨结肠根治术,手术过程中切除的废弃肠段,分出狭窄段,移行段,扩张段.免疫组织化学法测定Ghrelin及受体GHSR蛋白的表达变化.结果 Ghrelin 及其受体GHSR蛋白主要分布于结肠的腺管上皮细胞间及绒毛内.Ghrelin及其受体GHSR蛋白表达上狭窄段最少0.1460±0.014和0.1386±0.016,扩张段最多0.5103±0.013和0.5094±0.019,差异有统计学意义(P＜0.05).同一段组织Ghrelin及其受体GHSR蛋白表达量无差异(P＞0.05).结论 Ghrelin及其受体GHSR蛋白在先天性巨结肠狭窄段的表达减少,可能在胚胎发育过程中影响外胚层细胞发育从而影响结肠神经发育过程,还可能作为一种肠神经递质,导致肠蠕动功能障碍.

摘要： 目的 总结我院对胎粪性肠梗阻的诊治经验.方法 回顾我院7年间收治的13例胎粪性肠梗阻患儿临床资料,男6例,女7例,早产儿8例,低体重儿6例.10例简单型,3例复杂型.着重从症状、年龄、性别、出生体重等临床特征进行分析总结,重点讨论术前诊断,术中处置,一期手术后的处理经验.结果 保守治疗1例,经阑尾残端行胎粪疏通2例,一期行肠切除吻合1例,术后恢复良好,回肠造瘘术9例,其中5例行了关瘘,3例造瘘后放弃治疗,1例造瘘后失去联系,所有病例未见有纤维囊性病变症状.结论 胎粪性肠梗阻好发于早产及低体重儿,胎粪性肠梗阻似乎并不是纤维囊性病变的伴发症状.不手术不灌肠的保守治疗需慎重,条件允许可行一期肠切除吻合或胎粪疏通,处置得当的双腔造瘘是较好的选择之一.%Objective To summarize our experience on the diagnosis and treatment of meconium ileus (MI).Methods In the last 7 years,13 patients included 6 males and 7 females were diagnosed with MI,and underwent treatment at this department.Among these patients,8 patients were premature infants,and 6 were low birth weight newborns.Ten were simple MI,and the other 3 were complicated MI.The symptom,age,gender,birth weight and other clinical data were analyzed retrospectively.Results One patient underwent conservative treatment.Two patients meconium was removed by saline irrigation via the appendiceal stump.One patient underwent intestinal resection and anastomosis.All these 4 patients recovered without any complications after surgery.The other 9 patients underwent enterostomy,and 5 of them were performed secondary operation 3-12 months later to close the enterostomy.Three patients gave up further treatment and one lost follow-up.No symptom of cystic fibrosis was noted in all patients.Conclusions Meconium ileus is predominantly seen in premature and low birth weight newborns.An individualized treatment plan should be made for each patient to improve the clinical outcome.

摘要： 目的 观察不同术式对先天性巨结肠患儿术后远期并发症及肛门排便功能的影响.方法 选择先天性巨结肠患儿89例,根据患儿年龄及病变段长度,行改良Soave's术63例、Lynn术10例、改良Duhamel's术7例、其他术式9例.术后随访4 ～12年,根据患儿的直肠肛管测压、钡灌肠检查结果及Teitelbaum评分法,评价不同术式对患儿术后远期并发症及肛门排便功能的影响.结果 获访65例,术后肛门排便正常26例,好24例,欠佳12例,差3例；其中24例出现远期并发症,以大便失禁或污粪最常见.结论 先天性巨结肠患儿术后远期肛门排便功能与病变范围密切相关,依不同病变类型合理选择手术方式是成功治疗先天性巨结肠的关键.

摘要： 本发明涉及生物医学领域，具体而言，涉及一种抗nRNP/Sm抗体作为先天性巨结肠诊断标志物的应用。本发明在儿童先天性疾病诊断中具有操作简单、无介入、通量高、成本低的优势，填补了先天性巨结肠血浆诊断的空白。且本方法诊断的灵敏度和特异性好，AUC值为0.8165，最佳界限对应灵敏性为100％，特异性为64.10％，为先天性巨结肠的诊断提供了一个有效方法。

摘要： 本发明涉及生物医药技术领域，具体而言，涉及一种抗双链DNA抗体作为先天性巨结肠诊断标志物的应用。通过人自免抗原芯片筛选先天性巨结肠患儿的样本，得到先天性巨结肠患儿血浆高表达的抗双链DNA(dsDNA)抗体。并在独立的样品中用酶联免疫(ELISA)的方法验证了抗双链DNA(dsDNA)抗体的有效性。该抗双链DNA(dsDNA)抗体能有效诊断先天性巨结肠患儿，AUC为0.9167；最佳界限对应灵敏性为74.63％，特异性为96.88％。抗双链DNA(dsDNA)抗体可以作为先天性巨结肠血浆诊断标记物，用于疾病的筛查和诊断，填补了先天性巨结肠血浆诊断的空白。

摘要： 本发明涉及生物医药技术领域，具体而言，涉及一种抗NMDAR自身抗体作为先天性巨结肠诊断标志物的应用。本发明发现抗NMDAR自身抗体在儿童先天性疾病诊断中具有操作简单、无介入、通量高、成本低的优势，克服了现有技术中无血浆诊断的缺点。且本方法诊断的灵敏度和特异性较好，AUC值为0.9046，最佳界限对应灵敏性为93.75％，特异性为81.58％。此外，先天性巨结肠患儿表现为呕吐、腹胀、便秘、肠炎等，此类症状的患儿群体很大，其中为先天性巨结肠的儿童占比又很少，需要一个简单而有效的筛选方法。本方法用于疾病筛选时，灵敏性为100％时，特异性为78.95，可以用于疾病的筛选。

摘要： 本发明公开了Angiogenin作为先天性巨结肠肠炎早期预测及诊断标志物的应用。本发明提出以健康人Angiogenin水平为对照，当检测样品的Angiogenin水平显著高于对照时；或当检测样品的Angiogenin水平大于126.7pg/mL时，则存在先天性巨结肠肠炎患病风险。该标志物的诊断效果好，AUC可达0.8558水平，最佳界限对应特异性为85.71％，灵敏性为81.48％。本发明有效的填补了先天性巨结肠肠炎在诊断以及早期诊断领域中的空白。

摘要： 本发明涉及生物医药技术领域，具体而言，涉及一种抗单链DNA抗体作为先天性巨结肠诊断标志物的应用。通过人自免抗原芯片筛选先天性巨结肠患儿的血浆，得到先天性巨结肠患儿血浆高表达的抗单链DNA(ssDNA)抗体。并在独立的样品中用酶联免疫(ELISA)的方法验证了抗单链DNA(ssDNA)抗体的有效性。该抗单链DNA(ssDNA)抗体能有效诊断先天性巨结肠患儿，AUC为0.9167；最佳界限对应灵敏性为74.63％，特异性为96.88％。抗单链DNA(ssDNA)抗体可以作为先天性巨结肠血浆诊断标记物，用于疾病的筛查和诊断，填补了先天性巨结肠血浆诊断的空白。

摘要： 本申请是202110323377.0的分案申请。本发明属于生物医学领域，具体涉及先天性巨结肠诊断标志物及其应用。该标记物为PRDM9，进一步为PRDM9转座子融合，所述PRDM9转座子融合的融合位点选自位于chr5:23262356的PRDM9‑type II‑1；和/或位于chr5:23245181的PRDM9‑type II‑2。相对于传统诊断方法(钡灌肠等)，本方法具有确诊时间更早、操作简单快速、无介入、通量高、成本低等众多综合优势。

摘要： 本发明公开了CMV与PRDM9转座子融合作为先天性巨结肠早期诊断标志物及其应用。其利用CMV独立或联合PRDM9转座子融合定量检测作为先天性巨结肠的标记物，相对于传统诊断方法(钡灌肠等)，本发明中的检测方法具有确诊时间更早、操作简单快速、无介入、通量高、成本低等众多综合优势，有效地弥补了上述现有技术中的不足，是一种有效的先天性巨结肠早期诊断的替代或辅助检测手段。而且，本方法稳定性好，在两个独立队列中都得到较好的诊断效果，填补了先天性巨结肠在早期诊断领域中的空白。

摘要： 本发明公开了Angiogenin作为先天性巨结肠肠炎早期预测及诊断标志物的应用。本发明提出以健康人Angiogenin水平为对照，当检测样品的Angiogenin水平显著高于对照时；或当检测样品的Angiogenin水平大于126.7pg/mL时，则存在先天性巨结肠肠炎患病风险。该标志物的诊断效果好，AUC可达0.8558水平，最佳界限对应特异性为85.71％，灵敏性为81.48％。本发明有效的填补了先天性巨结肠肠炎在诊断以及早期诊断领域中的空白。

摘要： 本发明公开了视黄酸代谢通路在先天性巨结肠疾病中的应用，具体涉及视黄酸代谢通路在先天性巨结肠动物模型构建、检测、预防或治疗中的应用。本发明发现先天性巨结肠患者中视黄酸代谢通路异常；视黄醛脱氢酶ALDH1疾病段表达下调，具有显著差异(p0.05)，说明ALDH1及其调控的视黄酸通路代谢物具有诊断或辅助诊断先天性巨结肠的作用；喂食ALDH1的抑制剂可以诱导典型的巨结肠表型，用于构建先天性巨结肠患病模型，更好的研究先天性巨结肠的发病、发展机制以及防治药物的筛选；还发现视黄酸、视黄醛、视黄醇及其类似物、衍生物具有治疗先天性巨结肠疾病的作用，可以很好地应用于先天性巨结肠疾病的防治。

摘要： 本实用新型公开了一种先天性巨结肠患儿用灌肠器，涉及医疗器械的技术领域，其包括灌肠袋、进液管道以及延长管，所述灌肠袋上安装有用于连接进液管道的连接装置，所述连接装置包括连通于灌肠袋的连接管以及固接于连接管内壁的固定环；所述固定环的内周面沿其周向依次固接有多个弹性片，所述连接管远离灌肠袋的一端安装有用于驱动弹性片移动的驱动机构。本实用新型具有便于对进液管道与灌肠袋进行连接的效果。