Simultaneous type III congenital esophageal atresia and patent ductus arteriosus in a low-weight patient: A case report

BACKGROUND We report a low-birth-weight child(1.8 kg)with neonatal type III congenital esophageal atresia(CEA)combined with symptomatic patent ductus arteriosus(PDA).After comprehensive evaluation,esophageal anastomosis was performed on postnatal day 11 after excluding surgical contraindications,and arterial catheter ligation was performed at the same time.Concurrent surgery for CEA combined with PDA has not been clearly reported in the literature.CASE SUMMARY We report a 6-day-old female child with type III CEA and PDA.The patient presented with foam at the mouth after birth,cough and shortness of breath after feeding.At another hospital,she was considered to have neonatal pneumonia,neonatal jaundice and congenital heart disease and transferred to our hospital.After iodine oil radiography of the esophagus and echocardiography we con-firmed diagnosis of CEA and PDA.The diameter of the PDA was 8 mm,with obvious left to right shunting.We performed right rear extrapleural orificium fistula ligation and esophageal anastomosis,and ligation of PDA via left axilla straight incision after 5 d of hospitalization.The operations were successful,and the incision healed after 12 d,and the patient was discharged.We re-examined the patient 1 mo after surgery.She did not vomit when she ate rice flour.Esophageal angiography showed no stricture of the anastomotic stoma.The patient weighed 3.2 kg.CONCLUSION For CEA patients with multiple risk factors,comprehensive,timely and accurate diagnosis and evaluation,and early treatment may improve prognosis.

Primary liver transplantation vs transplant after Kasai portoenterostomy in children with biliary atresia: A retrospective Brazilian single-center cohort

BACKGROUND Biliary atresia(BA)is the most common indication for pediatric liver transplantation,although portoenterostomy is usually performed first.However,due to the high failure rate of portoenterostomy,liver transplantation has been advocated as the primary procedure for patients with BA.It is still unclear if a previous portoenterostomy has a negative impact on liver transplantation outcomes.AIM To investigate the effect of prior portoenterostomy in infants un-dergoing liver transplantation for BA.METHODS This was a retrospective cohort study of 42 pediatric patients with BA who underwent primary liver transplantation from 2013 to 2023 at a single tertiary center in Brazil.Patients with BA were divided into two groups:Those undergoing primary liver transplantation without portoenterostomy and those undergoing liver transplantation with prior portoenterostomy.Continuous variables were compared using the Student’s t-test or the Kruskal-Wallis test,and categorical variables were compared using theχ2 or Fisher’s exact test,as appropriate.Multivariable Cox regression analysis was performed to determine risk factors for portal vein thrombosis.Patient and graft survival analyses were conducted with the Kaplan–Meier product-limit estimator,and patient subgroups were compared using the two-sided log-rank test.RESULTS Forty-two patients were included in the study(25[60%]girls),23 undergoing liver transplantation without prior portoenterostomy,and 19 undergoing liver transplantation with prior portoenterostomy.Patients with prior portoenterostomy were older(12 vs 8 months;P=0.02)at the time of liver transplantation and had lower Pediatric End-Stage Liver Disease scores(13.2 vs 21.4;P=0.01).The majority of the patients(35/42,83%)underwent livingdonor liver transplantation.The group of patients without prior portoenterostomy appeared to have a higher incidence of portal vein thrombosis(39 vs 11%),but this result did not reach statistical significance.Prior portoenterostomy was not a protective factor against portal vein thrombosis in the multivariable analysis after adjusting for age at liver transplantation,graft-to-recipient weight ratio,and use of vascular grafts.Finally,the groups did not significantly differ in terms of post-transplant survival.CONCLUSION In our study,prior portoenterostomy did not significantly affect the outcomes of liver transplantation.

Congenital biliary atresia caused by GPC1 gene mutation in Chinese siblings:A case report

BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significance for prognosis,treatment,and genetic counseling.CASE SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver transplantation.After discharge,the patient was followed up.The condition was controlled by oral drugs,and the patient’s condition was stable.CONCLUSION CBA is a complex disease with a complex etiology.Clarifying the etiology is of great clinical importance for treatment and prognosis.This case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary atresia.However,its specific mechanism needs to be confirmed by further research.

Assessment of Intracardiac and Extracardiac Deformities in Patients with Various Types of Pulmonary Atresia by Dual-Source Computed Tomography

Background:Pulmonary atresia(PA)is a group of heterogeneous complex congenital heart disease.Only one study modality might not get a correct diagnosis.This study aims to investigate the diagnostic power of dualsource computed tomography(DSCT)for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography(TTE).Materials and Methods:This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis.All associated malformations and clinical information,including treatments,were recorded and compared among the three groups.The diagnostic power of DSCT and TTE on all associated malformations were compared.The surgical index(McGoon ratio,pulmonary arterials index(PAI),and total neopulmonary arterial index)and radiation dose were calculated on the basis of DSCT.Results:Of the patients,32,30,and 17 were divided into the groups of PA with ventricular septal defect(VSD),PA with VSD and major aortopulmonary collateral arteries,and PA with other major malformations,respectively.Consequently,182,162,and 13 intracardiac,extracardiac,and other major malformations were diagnosed,respectively.Moreover,DSCT showed a better diagnostic performance in extracardiac deformities(154 vs.117,p<0.001),whereas TTE could diagnose intracardiac deformities better(159 vs.139,p=0.001).The McGoon ratio,PAI,and treatment methods were significantly different among the three groups(p=0.014,p=0.008,and p=0.018,respectively).Conclusion:More than one imaging modality should be used to make a correct diagnosis when clinically suspecting PA.DSCT is superior to TTE in diagnosing extracardiac deformities and could be used to roughly calculate surgical indices to optimize treatment strategy.

Role of Surgery on Growth of Tricuspid Valve in Pulmonary Atresia with Intact Ventricular Septum:Mid-Term Results of Modified Right-Ventricular Overhauling Procedure

Objectives:To access the effectiveness of our modified right-ventricular overhauling procedure on tricuspid valve(TV)growth in patients with pulmonary atresia with intact ventricular septum(PAIVS).Methods:We retrospectively reviewed 21 patients with PAIVS who underwent modified right ventricular overhauling(mRVoh)between 2008 and 2019 at two institutions.Our mRVoh consisted of wide resection of hypertrophied infundibular and trabecular muscle,peeling off fibrotic endocardial tissue in the right ventricle(RV)cavity,surgical pulmonary valvotomy,and Blalock-Taussig shunt or banding of ductus arteriosus under cardiopulmonary bypass.The TV annulus sizes were measured and analyzed using echocardiography before and after mRVoh.Results:No mortalities were observed during a median follow-up of 3 years(interquartile range:1.3–4.7 years)of follow-up were noted.mRVoh was performed at a median age of 163.5 days(range:21–560 days),including seven neonates and two infants(<60 days).During follow-up,the median TV annular z-score increased significantly from−2.24 to−1.15 before and after mRVoh(p=0.004).In ten patients with a prior history of percutaneous interventions for RV outflow tract(RVOT)widening at least 6 months before mRVoh,the TV annular z-score significantly changed during the period after mRVoh(−2.03 to−1.61,p=0.028)compared with the period before mRVoh(−2.51→–2.03,p=0.575)after percutaneous intervention only.Conclusions:mRVoh in PAIVS patients was positively associated with TV annular growth,and it was more effective than percutaneous RVOT widening interventions without mRVoh.

Treatment of adult congenital anal atresia with rectovestibular fistula:A rare case report

BACKGROUND Female anorectal malformation is a correctable congenital defect.Delayed manifestations in patients with anal deformities are uncommon,especially after adolescence.CASE SUMMARY The clinical data of a 19-year-old adult female patient with congenital anal atresia accompanied by rectovestibular fistula as the main manifestation was retrospectively analyzed.Diagnosis was made based on the patient's clinical symptoms,signs,imaging showing the fistula,X-ray and magnetic resonance imaging results.The preoperative examination was improved.Anorectoplasty was performed.The patient exhibited an improvement in quality of life and presented no evidence of fecal incontinence during the 6-mo follow-up.CONCLUSION Transfistula anorectoplasty is a reasonable and reliable surgical method for the treatment of adult congenital anal atresia and rectovestibular fistula.

Primary repair of esophageal atresia gross type C via thoracoscopic magnetic compression anastomosis:A case report

BACKGROUND Esophageal atresia(EA)is a life-threatening congenital malformation in newborns,and the traditional repair approaches pose technical challenges and are extremely invasive.Therefore,surgeons have been actively investigating new minimally invasive techniques to address this issue.Magnetic compression anastomosis has been reported in several studies for its potential in repairing EA.In this paper,the primary repair of EA with magnetic compression anastomosis under thoracoscopy was reported.CASE SUMMARY A full-term male weighing 3500 g was diagnosed with EA gross type C.The magnetic devices used in this procedure consisted of two magnetic rings and several catheters.Tracheoesophageal fistula ligation and two purse strings were performed.The magnetic compression anastomosis was then completed thoracoscopically.After the primary repair,no additional operation was conducted.A patent anastomosis was observed on the 15th day postoperatively,and the magnets were removed on the 23rd day.No leakage existed when the transoral feeding started.CONCLUSION Thoracoscopic magnetic compression anastomosis may be a promising minimally invasive approach for repairing EA.

Graft dilatation and Barrett’s esophagus in adults after gastric pullup and jejunal interposition for long-gap esophageal atresia

BACKGROUND Esophageal replacement(ER)with gastric pull-up(GPU)or jejunal interposition(JI)used to be the standard treatment for long-gap esophageal atresia(LGEA).Changes of the ER grafts on a macro-and microscopic level however,are unknown.AIM To evaluate long-term clinical symptoms and anatomical and mucosal changes in adolescents and adults after ER for LGEA.METHODS A cohort study was conducted including all LGEA patients≥16 years who had undergone GPU or JI between 1985-2003 at two tertiary referral centers in the Netherlands.Patients underwent clinical assessment,contrast study and endoscopy with biopsy.Data was collected prospectively.Group differences between JI and GPU patients,and associations between different outcome measures were assessed using the Fisher’s exact test for bivariate variables and the Mann-Whitney U-test for continuous variables.Differences with a P-value<0.05 were considered statistically significant.RESULTS Nine GPU patients and eleven JI patients were included.Median age at follow-up was 21.5 years and 24.4 years,respectively.Reflux was reported in six GPU patients(67%)vs four JI patients(36%)(P=0.37).Dysphagia symptoms were reported in 64%of JI patients,compared to 22%of GPU patients(P=0.09).Contrast studies showed dilatation of the jejunal graft in six patients(55%)and graft lengthening in four of these six patients.Endoscopy revealed columnar-lined esophagus in three GPU patients(33%)and intestinal metaplasia was histologically confirmed in two patients(22%).No association was found between reflux symptoms and macroscopic anomalies or intestinal metaplasia.Three GPU patients(33%)experienced severe feeding problems vs none in the JI group.The median body mass index of JI patients was 20.9 kg/m^(2) vs 19.5 kg/m^(2) in GPU patients(P=0.08).CONCLUSION The majority of GPU patients had reflux and intestinal metaplasia in 22%.The majority of JI patients had dysphagia and a dilated graft.Follow-up after ER for LGEA is essential.

Right Sub-Axillary Incision for Right Pulmonary Vein Atresia in a Child:A Case Report and Literature Review

Unilateral pulmonary vein atresia(UPVA)in children is a rare disease that is characterized by a recurrent pulmonary infection and hemoptysis in childhood.This paper is a report of a case of pulmonary venous atresia treated by a right sub-axillary incision.Hopefully,more literature can be produced to improve the awareness and treatment level of pulmonary vein atresia.

经羊膜腔穿刺羊水减量对孕产妇羊水过多的疗效及其新生儿死亡影响因素分析

目的分析经羊膜腔穿刺羊水减量术对胎儿消化道畸形合并羊水过多孕产妇的疗效及对新生儿死亡的影响。方法回顾性分析2018年5月—2021年5月确诊为胎儿消化道畸形合并羊水过多的孕产妇及其新生儿的临床资料。根据治疗方法将研究对象分为常规治疗组、利尿剂使用组、经羊膜腔羊水减量组,比较三组孕产妇围产期并发症、分娩方式及妊娠结局,分析新生儿死亡的影响因素。结果纳入胎儿消化道畸形合并羊水过多的孕产妇126例。常规治疗组65例,孕产妇平均年龄(31.0±4.9)岁,首次治疗孕周23~34+6周;利尿剂使用组31例,孕产妇平均年龄(29.3±5.2)岁,首次治疗孕周25~34^(+4)周;经羊膜腔羊水减量组30例,孕产妇平均年龄(31.0±5.3)岁,首次治疗孕周26~34^(+6)周。不同治疗组之间早产、新生儿死亡比例的差异有统计学意义(P<0.05),经羊膜腔羊水减量组的早产率、新生儿死亡比例较低。与存活组相比,死亡组采用剖宫产术以及经羊膜腔羊水减量治疗的比例较低,早产率较高,差异有统计学意义(P<0.05)。采用二分类多因素logistic回归分析发现,早产、常规治疗未行羊水减量术为新生儿死亡的独立危险因素(P<0.05)。结论羊水减量可延长胎儿消化道畸形合并羊水过多孕产妇的孕周,降低早产率,改善新生儿预后。

细胞程序性死亡调控动物卵泡闭锁的分子机制

卵泡闭锁是一个受高度受调控的复杂过程,与颗粒细胞的程序性死亡密切相关。细胞凋亡、自噬、铁死亡、坏死性凋亡和焦亡等独立或相互作用参与调控卵泡闭锁和影响卵巢功能,本文综述了这5种细胞程序性死亡方式调控动物卵泡闭锁的分子机制及相关影响因素,以期为减少颗粒细胞程序性死亡诱导的卵泡闭锁、提高畜禽的繁殖性能提供参考。

压力控制容量保证通气模式在新生儿胸腔镜食管闭锁手术中的应用

目的探讨在新生儿胸腔镜食管闭锁手术中应用压力控制容量保证通气(PCV-VG)模式的通气效果及应用安全性。方法选择全麻下行胸腔镜食管闭锁手术新生儿36例,男22例,女14例,日龄1~4 d,体重1.4~4.5 kg,ASAⅢ或Ⅳ级。采用随机数字表法将新生儿分为两组:PCV-VG模式组(P组)和容量控制通气(VCV)模式组(V组),每组18例。麻醉成功后P组和V组分别使用PCV-VG模式和VCV模式。记录气管插管前、单肺通气前10 min、单肺通气后30 min、单肺通气结束后10 min的MAP、HR、SpO_(2)。记录单肺通气前10 min、单肺通气后30 min、单肺通气结束后10 min的气道平均压(Pmean)、气道峰压(Ppeak)、吸气平台压(Pplat)、肺动态顺应性(Cdyn)、P_(ET)CO_(2)、PaCO_(2)、PaO_(2)和pH。记录术后气管导管拔除时间和ICU停留时间。结果与V组比较,单肺通气后30 min P组SpO_(2)、Cdyn、PaO_(2)和pH明显升高(P<0.05),Pmean、Ppeak、Pplat明显降低(P<0.05);单肺通气后30 min和单肺通气结束后10 min P组P_(ET)CO_(2)、PaCO_(2)明显降低(P<0.05)。与V组比较,P组术后气管导管拔除时间和ICU停留时间明显缩短(P<0.05)。结论在新生儿胸腔镜食管闭锁手术中,与VCV模式比较,使用PCV-VG模式可以降低气道压力,提高肺顺应性,改善术中肺部气体交换,有利于新生儿术后康复。

基于声辐射力脉冲成像的诊断模型对胆道闭锁患儿肝纤维化的应用价值

目的分析基于声辐射力脉冲成像(ARFI)定量参数建立的无创诊断模型对胆道闭锁患儿肝纤维化的诊断价值。方法回顾性收集100例接受ARFI检查并行肝门-空肠吻合术(Kasai’s)治疗及肝组织活检的胆道闭锁患儿,男42例,女58例,平均年龄(68.79±8.79)d。根据活检病理结果分为肝纤维化组(71例)和非肝纤维化组(29例)。依据Metavir分级标准将肝纤维化分为5级:F0(29例)、F1(31例)、F2(24例)、F3(11例)、F4(5例)。2组临床资料和ARFI定量参数的比较采用t检验或χ^(2)检验;采用单因素方差分析比较肝纤维化不同分级间的剪切波速度(SWV)。采用多因素Logistic回归分析影响胆道闭锁患儿发生肝纤维化的独立危险因素,并构建基于ARFI定量参数的无创诊断模型。采用受试者操作特征(ROC)曲线评价模型的诊断效能,计算其曲线下面积(AUC)。结果肝纤维化组血清中性粒细胞(NEUT)、总胆红素(TBIL)、层黏蛋白(LN)、透明质酸(HA)、Ⅲ型前胶原(PCⅢ)、Ⅳ型胶原(Ⅳ-Col)浓度,以及SWV均高于非肝纤维化组(均P<0.05)。多因素Logistic回归分析结果显示,SWV、血清TBIL及LN、HA、PCⅢ、Ⅳ-Col浓度高是影响胆道闭锁患儿发生肝纤维化的危险因素(均P<0.05)。基于SWV的无创诊断模型诊断胆道闭锁患儿发生肝纤维化的最佳临界值为1.75 m/s,敏感度、特异度、准确度、阳性预测值、AUC分别为93.15%、70.09%、90.25%、88.80%、0.922。结论基于ARFI定量参数建立的无创诊断模型,可较为准确地诊断出胆道闭锁患儿是否存在肝纤维化,且具有较高的应用价值。

T淋巴细胞在胆道闭锁炎症和纤维化发生过程中调控机制的研究进展

胆道闭锁是以新生儿肝组织纤维化、汇管区炎症等为主要特征的疾病,围产期病毒感染被认为是致病因素之一,机体免疫调控异常在疾病进程中发挥主要作用。T淋巴细胞在免疫调控紊乱、过强的炎症反应以及自身抗体产生起着关键性的作用。本文对与胆道闭锁发病相关的T淋巴细胞亚群的种类和特点进行阐述。

腹腔镜辅助下肛门成形术治疗先天性中高位肛门闭锁的效果及对创伤反应、排便功能的影响

目的探讨腹腔镜辅助下肛门成形术(LAARP)治疗先天性中高位肛门闭锁的效果及对创伤反应、排便功能的影响。方法选择2016年4月至2020年6月我院收治的84例先天性中高位肛门闭锁患儿为研究对象,以随机数字表法将其分为对照组和观察组,各42例。对照组接受传统Pena术治疗,观察组接受LAARP治疗。比较两组的治疗效果。结果观察组的术中出血量少于对照组,手术时间、住院时间短于对照组,术后24 h新生儿疼痛量表(NIPS)评分低于对照组,差异具有统计学意义(P<0.05)。术前,两组的皮质醇(Cor)、C反应蛋白(CRP)、促肾上腺皮质激素释放激素(CRH)、促肾上腺皮质激素(ACTH)水平比较,差异无统计学意义(P>0.05);术后24 h,观察组的Cor、CRP、CRH、ACTH水平低于对照组,差异具有统计学意义(P<0.05)。观察组的术后并发症总发生率为4.76%,低于对照组的21.43%,差异具有统计学意义(P<0.05)。观察组术后12个月的排便功能恢复优良率高于对照组,差异具有统计学意义(P<0.05)。结论LAARP治疗先天性中高位肛门闭锁可缓解机体创伤反应及术后疼痛程度,降低术后并发症发生率,促进排便功能恢复,值得推广。

宫内心脏介入治疗胎儿危重型先天性心脏病5例报告

目的探索胎儿心脏介入治疗(FCI)对于胎儿危重型先天性心脏病的可行性及短期疗效。方法纳入2018年8月至2022年5月在宫内诊治中心进行FCI的所有患儿的临床资料,包括围产期至出生后基本信息、FCI手术信息、胎儿超声心动图信息等,追踪病例至出生后3月,分析FCI技术的可行性、有效性及安全性。结果纳入胎儿7例,其中5例实施FCI手术,手术成功率100%(5/5),包括2例重度主动脉瓣狭窄(CAS)和3例室间隔完整型肺动脉闭锁(PA/IVS)。手术时的中位孕周为29^(+2)(28^(+6)~32^(+4))周。5例胎儿FCI术后的超声心动图指标均获得明显改善。5例胎儿均足月出生,中位出生胎龄39^(+2)(38~39^(+4))周。生后2例CAS患儿行外科主动脉瓣成形术,3例PA/IVS患儿完成经皮肺动脉瓣球囊扩张术。1例心功能不全CAS患儿于新生儿期死亡,4例随访中,预后良好。结论FCI是一项安全、有效的技术,有望改善危重型先天性心脏病的预后。

鼻内镜下黏膜瓣技术联合全降解鼻窦药物支架修复儿童先天性后鼻孔闭锁的远期疗效及安全性观察

目的 探讨鼻内镜下后鼻孔闭锁术中黏膜瓣制作联合全降解鼻窦药物支架治疗儿童先天性后鼻孔闭锁的的远期临床疗效、安全性、以及对患儿生长发育的影响。方法 回顾性分析了首都医科大学附属北京儿童医院2018年1月—2021年2月诊治的28例确诊为先天性后鼻孔闭锁的患儿。所有患儿均采用鼻内镜下黏膜瓣技术结合全降解鼻窦药物支架系统,支架系统的指示线固定于外鼻至自行脱落。术后定期随访。记录指示线脱落时间,支架完全吸收时间,鼻塞改善情况,电子鼻咽镜了解术后鼻腔结构有无发育异常、后鼻孔成形情况、再狭窄率及并发症情况,并根据国家卫健委发布的《7岁以下儿童生长标准》WS/T423—2022评估患儿生长发育的情况。结果 所有患儿出院后1周电话问诊,鼻塞症状均已消失。支架系统的指示线脱落时间为(30.55±4.75)d。所有患儿均完成随访2~5年,随访1年内时,所有患儿均未发现与支架置入相关的并发症报道;术后随访1年以上,所有患儿复查内镜示后鼻孔成型效果稳定,未显示再狭窄。除3例综合征患儿身高、体重较同龄患儿较差,其余患儿术后2年生长发育曲线、身高体重均在正常同龄儿区间内,未发现鼻腔局部应用激素对患儿生长发育产生影响。结论 黏膜瓣的制作、骨性后鼻孔的扩大是儿童后鼻孔闭锁手术远期疗效保障的关键,术后全降解鼻窦药物支架的应用是避免短期局部并发症的关键,设置支架系统指示线是安全的辅助方式,临床观察未发现支架系统在鼻腔局部持续释放的小剂量激素对患儿生长发育产生远期影响。

肝功能相关指标联合胆囊收缩率在诊断胆道闭锁中的应用价值

目的探讨γ-谷氨酰转移酶(gamma-glutamyl transferase,GGT)、直接胆红素(direct bilirubin,DBil)与胆囊收缩率在诊断胆道闭锁(biliary atresia,BA)中的应用价值。方法收集2017年9月至2021年9月在西安交通大学附属儿童医院及西安市中心医院儿科住院治疗的185例胆汁淤积性肝病患儿为研究对象,根据剖腹探查或术中胆道造影和随访情况,将患儿分为BA组(70例)和肝内胆汁淤积(intrahepatic cholestasis,IHC)组(115例)。比较两组患儿的一般临床资料、实验室检查指标[包括总胆红素(total bilirubin,TBil)、DBil、丙氨酸氨基转移酶(alanine aminotransferase,ALT)、天门冬氨酸氨基转移酶(aspartate aminotransferase,AST)、GGT、碱性磷酸酶(alkaline phosphatase,ALP)、总胆汁酸(total bile acid,TBA)]及腹部超声检查资料。将有统计学意义的指标纳入受试者工作特征(receiver operator characteristic,ROC)曲线分析,计算ROC曲线下面积、最佳诊断界值和OR值;应用MedCalc软件进行ROC曲线下面积对比,分析各指标对诊断BA的价值。结果BA组和IHC组患儿的性别(男/女:31例/39例比78例/37例)、就诊年龄(中位数:52.0 d比58.0 d)、肝脏肋下大小(中位数:4.0 cm比2.0 cm)、脾大比例[40%(28/70)比18.3%(21/115)]、大便颜色、TBil(中位数:204.35μmol/L比138.30μmol/L)、DBil(中位数:125.70μmol/L比80.00μmol/L)、ALT(中位数:112.00 U/L比71.00 U/L)、AST(中位数:175.00 U/L比120.00 U/L)、GGT(中位数:440.75 U/L比94.50 U/L)、餐后1 h胆囊收缩率(无收缩/有收缩且<50%/有收缩且>50%:52.9%/41.4%/5.7%比7.0%/27.8%/65.2%)差异有统计学意义(P均<0.05)。两组患儿ALP(中位数526.00 U/L比548.00 U/L)、TBA(中位数:143.45μmol/L比161.90μmol/L)和25羟维生素D(中位数:8.00 ng/ml比8.13 ng/ml)水平差异无统计学意义(P均>0.05)。多因素Logistic回归分析表明,DBil(OR=1.031,95%CI:1.015~1.047,P<0.001)、GGT(OR=1.007,95%CI:1.004~1.011,P<0.001)、餐后1 h胆囊无收缩(OR=57.493,95%CI:9.577~345.133,P<0.001)和胆囊收缩率<50%(OR=9.907,95%CI:1.828~53.710,P=0.008)均为BA的危险因素。TBil、DBil、ALT、AST、GGT、GGT+DBil、GGT+DBil+胆囊收缩率诊断BA的ROC曲线下面积分别为0.797、0.820、0.614、0.658、0.890、0.932和0.963。单项指标中GGT的ROC曲线下面积最大,当GGT超过界值173.20 U/L时诊断BA的敏感度、特异度、阳性似然比、阴性似然比和诊断比值比分别为84.3%、78.3%、3.885、0.201和19.328。GGT+DBil+胆囊收缩率联合对BA的诊断价值最高,ROC曲线下面积显著高于GGT+DBil(z=2.303,P=0.021),其诊断BA的敏感度、特异度、阳性似然比、阴性似然比和诊断比值比分别为90.0%、90.4%、9.375、0.111和84.459。结论GGT、DBil与胆囊收缩率联合对BA有较高的诊断价值,当GGT超过界值173.20 U/L、DBil超过界值97.05μmol/L且超声提示胆囊收缩不良时需高度警惕BA。

冷缺血时间对不同疾病类型肝组织质量的影响

目的 高质量的肝脏组织样本对肝脏疾病的研究至关重要,冷缺血时间(CIT)是影响组织样本质量的关键因素,探讨冷缺血时间与不同疾病类型肝组织样本质量的相关性,为获得高质量肝组织样本提供标准。方法 选取天津市第一中心医院进行手术治疗的肝癌(HCC)和胆道闭锁(BA)患者各30例,手术切除肝组织后,室温放置0、0.25、0.5、1、2、3、5和6 h后,分别从基因水平、蛋白水平及形态学水平对组织质量进行检测,提取总RNA及基因组DNA,分别检测浓度、纯度及完整性(RIN/DIN值),荧光定量PCR检测组织样本冷缺血0、6 h后ALB基因表达水平;免疫组化方法检测组织样本冷缺血0、6 h后Hep Par1、CK19、CD34、Vimentin蛋白表达情况,Westernblot检测组织样本冷缺血0、6h后ALB蛋白表达水平;HE染色观察组织样本冷缺血0、6 h后组织及细胞形态学变化。结果 DNA产量、RNA纯度和RNARIN随时间变化,时间效应具有统计学意义。组间效应不显著,表明肝癌和胆道闭锁组间没有差异。DNA产量和RNA RIN的交互效应有统计学意义,说明时间的影响随着组别不同而有所不同。与冷缺血0 h相比,肝癌、胆道闭锁组织样本冷缺血6 h后ALB基因表达水平降低,差异具有统计学意义(P <0.05);免疫组化方法检测组织样本冷缺血0、6h后Hep Par1、CK19、CD34、Vimentin蛋白表达情况均无变化,Western blot检测显示组织样本冷缺血0、6 h后ALB蛋白表达水平无显著变化;石蜡切片HE染色显示样本冷缺血0、6 h后组织及细胞形态学无变化。结论 冷缺血时间对肝组织样本中核酸质量具有显著影响,缩短冷缺血时间可获得高质量肝组织样本。

新生儿胆道闭锁的预警筛查与早期诊断

胆道闭锁是婴儿期的严重慢性肝病,表现为破坏性炎性阻塞性胆管病。近期研究显示对30 d内胆道闭锁患儿实施早期Kasai手术最有可能延缓或防止肝移植,但目前国内外Kasai手术时间多在60 d左右,主要原因在于早期诊断面临很多困难和挑战,如30 d前行γ-谷氨酰基转肽酶筛查要充分考虑年龄分层的因素,且胆道系统早期病变程度轻微,导致影像学检查(如超声)的准确度降低,给精准医疗和改善预后带来挑战。本文对胆道闭锁新生儿早期诊断方式进行综述,旨在为30 d内的早期识别提供参考,并对未来潜在发展前景和研究方向进行分析。