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Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease

World Journal of Pediatrics 2023年第7期19卷 644-651页

作者： Jun Xiao Lu-Wen Hao Jing Wang Xiao-Si Yu Jing-Yi You Ze-Jian Li Han-Dan Mao Xin-Yao Meng jie-xiong feng Department of Pediatric Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AvenueWuhan 430030China Hubei Clinical Center of Hirschsprung's Disease and Allied Disorders Wuhan 430030China Department of Radiology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AvenueWuhan 430030China

Background Hirschsprung's disease(HSCR)is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth,causing great physical and mental pain to patients and their families.Studies have shown that more than 20 genes are involved in HSCR,and most cases of HSCR are sporadic.However,the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%.Furthermore,familial HSCR patients show incomplete dominance.We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families.Methods To find published references,we used the title/abstract terms"Hirschsprung"and"familial"in the PubMed data-base and the MeSH terms"Hirschsprung"and"familial"in Web of Science.Finally,we summarized 129 HSCR families over the last 40 years.Results The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR.The primary gene factors in the syndromic families are ret proto-oncogene(RET)and endothelin B receptor gene(EDNRB).Most families show incomplete dominance and are relevant to RET,and the RET mutation has 56%pen-etrance in familial HSCR.When one of the parents is a RET mutation carrier in an HSCR family,the offspring's recurrence risk is 28%,and the incidence of the offspring does not depend on whether the parent suffers from HSCR.Conclusion Our findings will help HSCR patients obtain better genetic counseling,calculate the risk of recurrence,and provide new insights for future pedigree studies.

关键词： Genetic characteristics Hirschsprung's disease Penetrance Recurrence risk Ret proto-oncogene(RET)

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Novel Insights into the Pathogenesis of I-lirschsprung＇s-associated Enterocolitis

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Chinese Medical Journal 2016年第12期129卷 1491-1497页

作者： Chun-Lei Jiao Xu-Yong Chen jie-xiong feng Department of Pediatric Surgery Tongji Hospital Huazhong University of Science and Technology Wuhan Hubei 430000 China

Objective： To systematically summary the updated results about the pathogenesis of Hirschsprung＇s-associated enterocolitis （HAEC）. Besides, we discussed the research key and direction based on these results. Data Sources： Our data cited in this review were obtained mainly from PubMed from 1975 to 2015, with keywords ＂Hirschsprung enterocolitis＂, ＂Hirschsprung＇s enterocolitis＂, ＂Hirschsprung＇s-associated enterocolitis＂, ＂Hirschsprung-associated enterocolitis＂, ＂HAEC＂, and ＂EC＂. Study Selection： Articles regarding the pathogenesis of HAEC were selected, and the articles mainly regarding the diagnosis, surgical approach, treatment, and follow-up were excluded. Results： Several factors, mainly including mucus barrier, intestinal microbiota, and immune function, as well as some other factors such as genetic variations and surgical reasons, have been found to be related to the pathogenesis of HAEC. Changed quantity and barrier property of mucus, different composition of microbiota, and an abnormal immune state work together or separately trigger HAEC. Conclusions： The maintenance of intestinal homeostasis is due to a well cooperation of microbiota, mucus barrier, and immune system. If any part presents abnormal, intestinal homeostasis will be broken. Meanwhile, for patients with Hirschsprung＇s disease or HAEC, dysfunction of these parts has been found. Thus, the happening of HAEC may be mainly attributed to the disorders of intestinal microbiota, mucus barrier, and immune system.

关键词： Enterocolitis Hirschsprung＇s-associated Enterocolitis Hirschsprung＇s Disease Pathogenesis

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CD117 is not always positive in infantile gastrointestinal stromal tumor

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World Journal of Pediatrics 2018年第1期14卷 100-103页

作者： Jin Peng He jie xiong feng Department of Pediatric Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AveQiaokou DistrictWuhan 430030HubeiChina

Gastrointestinal stromal tumors (GISTs) are rare in infants. GIST was presumed to originate from the interstitial cells of Cajal (ICC), which has been proven by their immu-nophenotype (CD117 positive). About 95% of GISTs express CD117 and 80% of GISTs also express CD34. They locate mostly in the stomach or the small intestine and usu-ally cause obstruction (1)The UK National Registry of Childhood Tumors reported the incidence of GISTs at 0.02 per million per year in children below the age of 14 years (2)Here we will discuss a very rare case of infantile GIST with negative CD117 expression and make a review of lit-eratures about its clinical, histopathological, and prognos-tic findings.

关键词： CD117 infantile gastrointestinal stromal tumor Gastrointestinal stromal tumors (GISTs)

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Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities

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Current Medical Science 2018年第2期38卷 304-309页

作者： Yan LIU Hong WANG Chen DONG jie-xiong feng Zhi-hua HUANG Department of Pediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China Genetic Diagnostic Centre Department of Internal Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China Department of Pediatric Surgery Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

Alagille syndrome （AGS） is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene. The diagnosis of AGS is hampered by its highly variable clinical manifestations. We performed a retrospective analysis on 16 children diagnosed as having AGS in recent five years in our hospital. Cholestasis was seen in 15 patients （93.8%）, heart disease in 12 （75%）, characteristic facies in 7 （43.8%）, and butterfly vertebrae in 7 （43.8%）. Ophthalmology examination was not performed on all the patients. Further, serum biochemical parameters were compared between AGS and 16 biliary atresia （BA） patients who were confirmed by surgery. Elevated liver enzymes were seen in all the patients. Serum total cholesterol （TC）（P=0.0007）, alanine aminotransferase （ALT）（P=0.0056）, aspartate aminotransferase （AST）（P=0.0114）, gamma-glutamyl transferase （GGT）（P=0.035） and total bile acid （TBA） levels （P=0.042） were significantly elevated in AGS patients compared to those in BA cases. However, there were no significant differences in serum total bilirubin （TB）, conjugated bilirubin （CB） and albumin （ALB） between the two groups. We identified 14 different JAG1 gene variations and 1 NOTCH2 gene mutation in 16 Chinese AGS patients. Our study suggested clinical features of AGS are highly variable and not all patients meet the classical diagnostic criteria. It was suggested that hypercholesterolaemia and significantly elevated GGT, TBA and ALT may be helpful to diagnose AGS. Genetic testing is integral in the diagnosis of AGS.

关键词： Alagille syndrome cholestasis biochemical characteristics gene infant

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Ex utero intrapartum treatment for giant congenital omphalocele

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World Journal of Pediatrics 2018年第4期14卷 399-403页

作者： Xu-Yong Chen Ji-Xin Yang Hong-Yi Zhang Xiao-feng xiong Khalid Mohamoud Abdullahi Xiao-Juan Wu jie-xiong feng Department of Pediatric Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AveWuhan 430030China

Background To determine whether ex utero intrapartum treatment (EXIT) is an appropriate approach for managing fetuses antenatally diagnosed with giant congenital omphaloceles. Methods We retrospectively reviewed patients with omphaloceles who underwent either an EXIT procedure or a traditional repair surgery. Basic and clinical parameters including gender, gestational age, birth weight, maternal blood loss, operative times and operative complications were analyzed. During the 6–12-month follow-ups, postoperative complications including bowel obstruction, abdominal infections, postoperative abdominal distension were monitored, and survival rate was analyzed. Results A total of seven patients underwent the EXIT procedure and 11 patients underwent the traditional postnatal surgery. We found no differences in maternal age, gestational age at diagnosis, gestational age at delivery and birth weight between the two groups. In the EXIT group, the average operation time for mother was 68.3 ± 17.5 minutes and the average maternal blood loss was 233.0 ± 57.7 mL. The operation time in the EXIT group (22.0 ± 4.5 minutes) was shorter than that in the traditional group (35 ± 8.7 minutes), but the length of hospital stay in the EXIT group (20.5 ± 3.1 days) was longer than that in the traditional group (15.7 ± 2.5 days,P < 0.05). During the follow-up, one patient in the EXIT group had an intestinal obstruction, one developed abdominal compartment syndrome and one died in the traditional group. Conclusions In our experience, EXIT is a safe and effective procedure for the treatment of giant congenital omphaloceles. However, more experience is needed before this procedure can be widely recommended.

关键词： Congenital omphalocele Ex utero intrapartum treatment Fetus antenatally diagnosed Safe and effective procedure

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Comparison of different noninvasive diagnostic methods for biliary atresia: a meta-analysis

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世界儿科杂志:英文版 2016年第1期12卷 35-43页

作者： Jin-Peng He Yun Hao Xiao-Lin Wang Xiao-Jin Yang Jing-Fan Shao jie-xiong feng Department of Pediatric Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina

Background:This study was undertaken to retrospectively analyze the accuracy of different methods in differentiating biliary atresia from neonatal jaundice.Methods:A search was made in MEDLINE,and the Web of Science for relevant original articles published in English;methodological quality of the included studies was also assessed.Two reviewers extracted data independently.Studies were pooled,summary receiver operating characteristics curve and diagnostic odds ratio(DOR)with corresponding confi dence intervals were calculated.Results:For diagnosis of biliary atresia,ultrasonography(US),hepatic scintigraphy(HBS),and magnetic resonance cholangiography(MRCP)had a pooled sensitivity of 74.9%(range:70.4%-79.1%),93.4%(range:90.3%-95.7%)and 89.7%(range:84.8%-93.4%),a specificity of 93.4%(range:91.4%-95.1%),69.2%(range:65.1%-73.1%)and 64.7%(range:58.0%-71.0%),a positive likelihood ratio of 12.16(range:6.41-23.08),3.01(range:2.15-4.20)and 3.10(range:1.59-6.06),a negative likelihood ratio of 0.23(range:0.13-0.38),0.13(range:0.06-0.25)and 0.16(range:0.06-0.44),DOR of 72.56(range:27.34-192.58),29.88(range:12.82-69.64)and 32.48(range:8.22-128.29),with an area under the curve of 0.96,0.91,and 0.92,and Q value of 0.90,0.85,and 0.85,respectively.Conclusions:US,HBS and MRCP can be very useful for the diagnostic work-up of neonatal cholestasis.To improve the sensitivity and specificity,several additional measures can be used.

关键词： biliary atresia diagnostic methods meta-analysis noninvasive

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Clinical characteristics of postoperative necrotizing enterocolitis in patients with congenital jejunoileal atresia and its risk factors

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World Journal of Pediatric Surgery 2024年第1期7卷 42-46页

作者： Xiaofeng xiong Wei Lu Fuzhong Xing Yuan Cai Jixin Yang Yuhang Yuan jiexiong feng Xuyong Chen Department of Pediatric Surgery Tongji Hospital of Tongji Medical College of Huazhong University of Science and TechnologyWuhanHubeiChina Department of Neonate Surgery Wuhan Children's HospitalHuazhong University of Science and TechnologyWuhanHubeiChina Department of Pediatric Surgery The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenanChina

Objective To review postoperative necrotizing enterocolitis(NEC)in patients with jejunoileal atresia(JIA)and to explore the potential risk factors related to the concurrence ofNEC.Methods Patients diagnosed with JIA who received surgical treatment from January 2016 to June 2021 were enrolled.Demographics,viral infection of the fetus,transfusion within 48 hours before NEC,sepsis before JIA repair,pathological and anatomical classification of JIA,combined malformation,occurrence time of NEC after the operation,treatment,and prognosis of patients were analyzed.Patients were divided into NEC group and non-NEC group,and all patients were followed up for 3-6 months to observe for complications.Results A total of 180 patients with JIA were included,of whom 12 were diagnosed with NEC after surgery and 1 patient with NEC died during follow-up.The average age,birth weight,gestational age,proportion of premature infants,proportion of preoperative infections,and pathological classification of JIA did not significantly differ between the two groups.The probability of patients with proximal jejunal atresia(PJA)in the NEC group(58.3%)was higher than that in the non-NEC group(22.6%)(p=0.011),and patients with PJA had longer parenteral nutrition time than patients without PJA(26.64±9.21 days vs 15.11±6.58 days,p<0.001).Conclusion PJA was more likely to be associated with concurrent NEC after surgery,which is a highly NEC-related risk factor inherent in JIA.

关键词： patients postoperative transfusion

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Early complications after excision with hepaticoenterostomy for infants and children with choledochal cysts

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Hepatobiliary & Pancreatic Diseases International 2002年第2期1卷 281-284页

作者： Min-Ju Li jie-xiong feng Qi-Fei Jin From the Department of Pediatric Surgery, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China Department of Pediatric Surgery Children's Hospital Zhejiang University School of Med. Hangzhou 310003 China

Objective: To retrospectively study the early compli- cations of excision with hepaticoenterostomy for in- fants and children with choledochal cysts. Methods: We analyzed 16 patients with early posto- perative complications out of 173 patients with con- genital choledochal cysts aged 27 days to 14 years (mean 2.4 years) who had undergone excisional pro- cedures and biliary tract reconstruction. Results: The early complications included bile leak- age (10 patients), abdominal wall dehiscence (3), and hepatic failure, pancreatic juice leakage and postoperative intussusception (each in 1) respective- ly. Three patients died from bile leakage and 1 from postoperative hepatic failure. No statistical differen- ces were observed between the procedures of biliary tract reconstruction with jejunal segment interposi- tion hepaticoduodenostomy and Roux-en-Y hepatico- jejunostomy (P>0.75). The morbidity was signifi- cantly higher in infants below 1 year than in children (P<0.005). Prevention and treatment of the com- plications were discussed. Conclusion: Bile leakage and abdominal wall dehis- cence are major early postoperative complications. The morbidity of cholechal cysts is higher in infants than in children. Exploratory laparotomy should not be delayed when biliary leakage with diffuse peritoni- tis appears. The 'tension suture in the fascial space of the abdominal wall' is useful to prevent and treat wound dehiscence.

关键词： choledochal cyst postoperative complication infants children

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Honokiol Prevents Intestinal Barrier Dysfunction in Mice with Severe Acute Pancreatitis and Inhibits JAK/STAT1 Pathway and Acetylation of HMGB1

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Chinese Journal of Integrative Medicine 2024年第6期30卷 534-542页

作者： LI jie CHEN Ya-feng GAO Lei LI Yi-jie feng Dian-xu Department of General Surgery Putuo HospitalShanghai University of Traditional Chinese MedicineShanghai200062China

Objective To investigate the effect of honokiol(HON)and the role of high-mobility group protein B1(HMGB1)on the pathogenesis of severe acute pancreatitis(SAP).Methods Thirty mice were numbered according to weight,and randomly divided into 5 groups using a random number table,including control,SAP,SAP and normal saline(SAP+NS),SAP and ethyl pyruvate(SAP+EP),or SAP+HON groups,6 mice in each group.Samples of pancreas,intestine,and blood were collected 12 h after SAP model induction for examination of pathologic changes,immune function alterations by enzyme linked immunosorbent assay(ELISA),and Western blot.In vitro experiments,macrophages were divided into 5 groups,the control,lipopolysaccharide(LPS),LPS+DMSO(DMSO),LPS+anti-HMGB1 monoclonal antibody(mAb),and LPS+HON groups.The tight connection level was determined by transmission electron microscopy and fluorescein isothiocyanate-labeled.The location and acetylation of HMGB1 were measured by Western blot.Finally,pyridone 6 and silencing signal transducer and activator of the transcription 1(siSTAT1)combined with honokiol were added to determine whether the Janus kinase(JAK)/STAT1 participated in the regulation of honokiol on HMGB1.The protein expression levels of HMGB1,JAK,and STAT1 were detected using Western blot.Results Mice with SAP had inflammatory injury in the pancreas,bleeding of intestinal tissues,and cells with disrupted histology.Mice in the SAP+HON group had significantly fewer pathological changes.Mice with SAP also had significant increases in the serum levels of amylase,lipase,HMGB1,tumor necrosis factor-α,interleukin-6,diamine oxidase,endotoxin-1,and procalcitonin.Mice in the SAP+HON group did not show these abnormalities(P<0.01).Studies of Caco-2 cells indicated that LPS increased the levels of occludin and claudin-1 as well as tight junction permeability,decreased the levels of junctional adhesion molecule C,and elevated intercellular permeability(P<0.01).HON treatment blocked these effects.Studies of macrophages indicated that LPS led to low nucle

关键词： severe acute pancreatitis intestinal barrier dysfunction honokiol high-mobility group protein B1 Januskinase signal transducerand activatorof transcription1

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Concomitant treatment of ureteral calculi and ipsilateral pelvic sciatic nerve schwannoma with transperitoneal laparoscopic approach: A case report

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World Journal of Clinical Cases 2024年第11期12卷 1947-1953页

作者： Yang xiong Jin Li Han-jie Yang Department of Urology Pingxiang People’s HospitalPingxiang 337000Jiangxi ProvinceChina

BACKGROUND Schwannomas are rare peripheral neural myelin sheath tumors that originate from Schwann cells.Of the different types of schwannomas,pelvic sciatic nerve schwannoma is extremely rare.Definite preoperative diagnosis of pelvic schwannomas is difficult,and surgical resection is the gold standard for its definite diagnosis and treatment.CASE SUMMARY We present a case of pelvic schwannoma arising from the sciatic nerve that was detected in a 40-year-old man who underwent computed tomography for intermittent right lower back pain caused exclusively by a right ureteral calculus.Subsequently,successful transperitoneal laparoscopic surgery was performed for the intact removal of the stone and en bloc resection of the schwannoma.The total operative time was 125 min,and the estimated blood loss was inconspicuous.The surgical procedure was uneventful.The patient was discharged on postoperative day 5 with the simultaneous removal of the urinary catheter.However,the patient presented with motor and sensory disorders of the right lower limb,caused by partial damage to the right sciatic nerve.No tumor recurrence was observed at the postoperative appointment.CONCLUSION Histopathological examination of the specimen confirmed the diagnosis of a schwannoma.Thus,laparoscopic surgery is safe and feasible for concomitant extirpation of pelvic schwannomas and other pelvic and abdominal diseases that require surgical treatment.

关键词： Schwannoma Sciatic nerve Laparoscopy Ureteral calculi Pelvic neoplasms Case report

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