Background One stage transanal Soave pull-through procedure （TSPP） is a recent popular operation in the treatment of Hirschsprung＇s disease （HD）. With no visible scar and a short hospital stay, it is well accepte...Background One stage transanal Soave pull-through procedure （TSPP） is a recent popular operation in the treatment of Hirschsprung＇s disease （HD）. With no visible scar and a short hospital stay, it is well accepted by surgeons and mothers. In the conventional Soave procedure, a long rectal muscular cuff left for anocolic anastomosis might increase the incidence of postoperative enterocolitis and constipation. This study presents a modified transanal Soave pull-through procedure （MTSPP） which includes an oblique mucosectomy and an oblique anastomosis with a short split muscular cuff.. Methods A review of two groups of HD patients was made： 112 underwent conventional transanal Soave procedure from 1999 to 2001 （group 1） and 140 underwent modified transanal Soave procedure from 2002 to 2004 （group 2）. A comparison was made between the two groups on operative data and postoperative complications. The data included： age at the operation, operating time, blood loss, time to feeds and hospital stay, occurrence of postoperative enterocolitis or constipation, need for anal dilatation, postoperative bowel function and perianal skin problems. Results There was no significant difference between two groups with respect to age, gender, length of colon resected, operating time, blood loss and hospital stay. However occurrence of postoperative enterocolitis, constipation, anastomotic stricture and time needed for anal dilatation were evidently less in group 2 （MTSPP）. The mean operating time in group 1 was （106 ± 39） minutes with a range of 60 to 170 minutes; in group 2 was （101 ± 36） minutes with a range of 66 to 190 minutes. The average length of the bowel resected in group 1 was （24 ± 7） cm, range 15 to 58 cm; in group 2 was （26 ± 8） cm, range 15 to 70 cm. Two patients, one in each group, required laparoscopic assistance because of long aganglionic colon. Another patient in group 2 required laparotomy because of total colonic aganglionosis. Postoperative complications in group 展开更多
目的:探讨加速康复外科(Enhanced recovery after surgery,ERAS)理念用于治疗小婴儿先天性巨结肠(Hirschsprung’s,HSCR)的临床疗效和安全性。方法:选择2016年01月至2017年12月在我院新生儿外科接受手术治疗并临床病理确诊的79例HSCR患...目的:探讨加速康复外科(Enhanced recovery after surgery,ERAS)理念用于治疗小婴儿先天性巨结肠(Hirschsprung’s,HSCR)的临床疗效和安全性。方法:选择2016年01月至2017年12月在我院新生儿外科接受手术治疗并临床病理确诊的79例HSCR患儿并将其分为对照组和ERAS组。对照组26例给予经腹巨结肠根治术,ERAS组44例入院后据患儿病情进行宣教ERAS,再采用腹腔镜巨结肠根治术。比较两组手术时间、术后肠功能恢复时间、留置管道情况、平均住院日、住院费用、血清C反应蛋白(C-reactive protein,CRP)、降钙素原、白介素-6(Interleukin,IL-6)、皮质醇水平的变化及围手术期并发症的发生情况。结果:ERAS组手术时间、术中出血量、肠功能恢复时间、术前平均住院天数、术后平均住院天数、平均住院天数、平均费用、留置胃管时间、留置尿管时间均显著短于对照组。术后,ERAS组血清CRP、降钙素原、IL-6、皮质醇水平均明显低于对照组。ERAS组术中并发症发生率显著低于对照组(2.27%vs. 23.08,P<0.05)。结论:加速康复外科理念辅助治疗小婴儿先天性巨结肠可促进患者术后病情恢复,减少患者医疗费用并提高治疗安全性。展开更多
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types.Waardenburg syndrome typ...Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types.Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair(A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.展开更多
AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis ...AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis for 193 patients with Hirschsprung's disease (HD). One hundred and fiftytwo patients were followed up patients (follow-up rate 79%).The operative outcome and postoperative complications were retrospectively analyzed.RESULTS: Early complications included urine retention in 2patients, enteritis in 10, anastomotic stricture in 1, and intestinal obstruction in 2. No infection of abdominal cavity or wound and anastomotic leakage or death occurred in any patients. Late complications were present in 22 cases,including adhesive intestinal obstruction in 2, longer anal in 5, incision hernia in 2, enteritis in 6, occasional stool stains in 7 and 6 related with improper diet. No constipation or incontinence occurred in any patient.CONCLUSION: The early and late postoperative complication rates were 7.8% and 11.4% respectively in our 'heartshaped anastomosis' procedure. 'Heart-shaped'anastomosis procedure for Hirschsprung's disease provides a better therapeutic effect compared to classic procedures.展开更多
AIM: To determine if hyperpolarisation-activated nucleotide-gated(HCN) channels exist in human colon, and to investigate the expression of HCN channels in Hirschsprung's disease.METHODS:We investigated HCN1,HCN2,H...AIM: To determine if hyperpolarisation-activated nucleotide-gated(HCN) channels exist in human colon, and to investigate the expression of HCN channels in Hirschsprung's disease.METHODS:We investigated HCN1,HCN2,HCN3 and HCN4 protein expression in pull-through specimens from patients with Hirschsprung’s disease(HSCR,n=10)using the proximal-most ganglionic segment and distalmost aganglionic segment,as well as in healthy control specimens obtained at the time of sigmoid colostomy closure in children who had undergone anorectoplasty for imperforate anus(n=10).Fluorescent immunohistochemistry was performed to assess protein distribution,which was then visualized using confocal microscopy.RESULTS:No HCN1 channel expression was observed in any of the tissues studied.Both HCN2 and HCN4proteins were found to be equally expressed in the aganglionic and ganglionic bowel in HSCR and controls.HCN3 channel expression was found to be markedly decreased in the aganglionic colon vs ganglionic colon and controls.HCN2-4 channels were seen to be expressed within neurons of the myenteric and submucosal plexus of the ganglionic bowel and normal controls,and also co-localised to interstitial cells of Cajal in all tissues studied.CONCLUSION:We demonstrate HCN channel expression in human colon for the first time.Reduced HCN3expression in aganglionic bowel suggests its potential role in HSCR pathophysiology.展开更多
Introduction: Constipation is the infrequent emission of hard stools. It is common, most often of functional origin, with a prevalence ranging from 0.7% to 29.6%. The aim of our study was to investigate the prevalence...Introduction: Constipation is the infrequent emission of hard stools. It is common, most often of functional origin, with a prevalence ranging from 0.7% to 29.6%. The aim of our study was to investigate the prevalence of constipation in children undergoing paediatric gastroenterology. Methodology: This was a bi-centric retrospective study carried out at the Albert Royer Children’s Hospital and the Dalal Jamm Hospital Pediatrics Department. Children followed in the pediatric gastroenterology consultation during the period from January 1, 2013 to February 29, 2020 were included. Results: A total of 337 children (205 boys;60.83%) were included, representing a prevalence of 25%. The median age was 3 years 6 months. The 13 - 24 months age group was the most frequent (27.6%). Rare stools were the main reason for consultation (92.8%). Rare stools were noted in 92.88% of cases. Bristol types 1 and 2 accounted for 6.53% and 54.60% respectively. The main associated signs were abdominal pain (29.4%), followed by abdominal bloating (20.96%). Abdominal pain was functional in 73.58% of cases. Under treatment, 90.19% of children had a favorable outcome. Conclusion: Constipation is common in Senegalese children with a prevalence close to that reported in Western countries. In most case, it is functional with good prognostic.展开更多
BACKGROUND A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery.Persistent obstructive symptoms may result in faecal stasis that can develop into...BACKGROUND A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery.Persistent obstructive symptoms may result in faecal stasis that can develop into Hirschsprung-associated enterocolitis,a potential life-threatening condition.Important treatment to improve faecal passage is internal anal sphincter relaxation using botulinum toxin injections.AIM To give an overview of all empirical evidence on the effectiveness of botulinum toxin injections in patients with Hirschsprung disease.METHODS A systematic review and meta-analysis was done by searching PubMed,EMBASE and the Cochrane Library,using entry terms related to:(1)Hirschsprung disease;and(2)Botulinum toxin injections.14 studies representing 278 patients met eligibility criteria.Data that were extracted were proportion of patients with improvement of obstructive symptoms or less enterocolitis after injection,proportion of patients with adverse effects and data on type botulinum toxin,mean dose,average age at first injection and patients with associated syndromes.Random-effects meta-analysis was used to aggregate effects and random-effects meta-regression was used to test for possible confounding factors.RESULTS Botulinum toxin injections are effective in treating obstructive symptoms in on average 66%of patients[event rate(ER)=0.66,P=0.004,I2=49.5,n=278 patients].Type of botulinum toxin,average dose,average age at first injections and proportion of patients with associated syndromes were not predictive for this effect.Mean 7 duration of improvement after one botulinum toxin injections was 6.4 mo and patients needed on average 2.6 procedures.There was a significant higher response rate within one month after botulinum toxin injections compared to more than one month after Botulinum toxin injections(ER=0.79,vs ER=0.46,Q=19.37,P<0.001).Botulinum toxin injections were not effective in treating enterocolitis(ER 0.58,P=0.65,I2=71.0,n=52 patients).There were adverse effects in on average 17%of patients(E展开更多
Hirschsprung’s disease(HSCR)is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a ...Hirschsprung’s disease(HSCR)is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction.Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment.Hirschsprung’s disease associated enterocolitis(HAEC)is an inflammatory complication associated with HSCR that can present either in the pre-or postoperative period and associated with increased morbidity and mortality.The pathogenesis of HAEC remains poorly understood,but intestinal dysmotility,dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role.There is no clear definition for HAEC,but the diagnosis is primarily clinical,and treatment is guided based on severity.Here,we aim to provide a comprehensive review of the clinical presentation,etiology,pathophysiology,and current therapeutic options for HAEC.展开更多
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 ...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.展开更多
文摘Background One stage transanal Soave pull-through procedure （TSPP） is a recent popular operation in the treatment of Hirschsprung＇s disease （HD）. With no visible scar and a short hospital stay, it is well accepted by surgeons and mothers. In the conventional Soave procedure, a long rectal muscular cuff left for anocolic anastomosis might increase the incidence of postoperative enterocolitis and constipation. This study presents a modified transanal Soave pull-through procedure （MTSPP） which includes an oblique mucosectomy and an oblique anastomosis with a short split muscular cuff.. Methods A review of two groups of HD patients was made： 112 underwent conventional transanal Soave procedure from 1999 to 2001 （group 1） and 140 underwent modified transanal Soave procedure from 2002 to 2004 （group 2）. A comparison was made between the two groups on operative data and postoperative complications. The data included： age at the operation, operating time, blood loss, time to feeds and hospital stay, occurrence of postoperative enterocolitis or constipation, need for anal dilatation, postoperative bowel function and perianal skin problems. Results There was no significant difference between two groups with respect to age, gender, length of colon resected, operating time, blood loss and hospital stay. However occurrence of postoperative enterocolitis, constipation, anastomotic stricture and time needed for anal dilatation were evidently less in group 2 （MTSPP）. The mean operating time in group 1 was （106 ± 39） minutes with a range of 60 to 170 minutes; in group 2 was （101 ± 36） minutes with a range of 66 to 190 minutes. The average length of the bowel resected in group 1 was （24 ± 7） cm, range 15 to 58 cm; in group 2 was （26 ± 8） cm, range 15 to 70 cm. Two patients, one in each group, required laparoscopic assistance because of long aganglionic colon. Another patient in group 2 required laparotomy because of total colonic aganglionosis. Postoperative complications in group
文摘Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types.Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair(A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.
基金Supported by the National Natural Science Foundation of China, No.39670746
文摘AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis for 193 patients with Hirschsprung's disease (HD). One hundred and fiftytwo patients were followed up patients (follow-up rate 79%).The operative outcome and postoperative complications were retrospectively analyzed.RESULTS: Early complications included urine retention in 2patients, enteritis in 10, anastomotic stricture in 1, and intestinal obstruction in 2. No infection of abdominal cavity or wound and anastomotic leakage or death occurred in any patients. Late complications were present in 22 cases,including adhesive intestinal obstruction in 2, longer anal in 5, incision hernia in 2, enteritis in 6, occasional stool stains in 7 and 6 related with improper diet. No constipation or incontinence occurred in any patient.CONCLUSION: The early and late postoperative complication rates were 7.8% and 11.4% respectively in our 'heartshaped anastomosis' procedure. 'Heart-shaped'anastomosis procedure for Hirschsprung's disease provides a better therapeutic effect compared to classic procedures.
基金Supported by National Children’s Research Centre/Children’s Medical Research Foundation,Ireland
文摘AIM: To determine if hyperpolarisation-activated nucleotide-gated(HCN) channels exist in human colon, and to investigate the expression of HCN channels in Hirschsprung's disease.METHODS:We investigated HCN1,HCN2,HCN3 and HCN4 protein expression in pull-through specimens from patients with Hirschsprung’s disease(HSCR,n=10)using the proximal-most ganglionic segment and distalmost aganglionic segment,as well as in healthy control specimens obtained at the time of sigmoid colostomy closure in children who had undergone anorectoplasty for imperforate anus(n=10).Fluorescent immunohistochemistry was performed to assess protein distribution,which was then visualized using confocal microscopy.RESULTS:No HCN1 channel expression was observed in any of the tissues studied.Both HCN2 and HCN4proteins were found to be equally expressed in the aganglionic and ganglionic bowel in HSCR and controls.HCN3 channel expression was found to be markedly decreased in the aganglionic colon vs ganglionic colon and controls.HCN2-4 channels were seen to be expressed within neurons of the myenteric and submucosal plexus of the ganglionic bowel and normal controls,and also co-localised to interstitial cells of Cajal in all tissues studied.CONCLUSION:We demonstrate HCN channel expression in human colon for the first time.Reduced HCN3expression in aganglionic bowel suggests its potential role in HSCR pathophysiology.
文摘Introduction: Constipation is the infrequent emission of hard stools. It is common, most often of functional origin, with a prevalence ranging from 0.7% to 29.6%. The aim of our study was to investigate the prevalence of constipation in children undergoing paediatric gastroenterology. Methodology: This was a bi-centric retrospective study carried out at the Albert Royer Children’s Hospital and the Dalal Jamm Hospital Pediatrics Department. Children followed in the pediatric gastroenterology consultation during the period from January 1, 2013 to February 29, 2020 were included. Results: A total of 337 children (205 boys;60.83%) were included, representing a prevalence of 25%. The median age was 3 years 6 months. The 13 - 24 months age group was the most frequent (27.6%). Rare stools were the main reason for consultation (92.8%). Rare stools were noted in 92.88% of cases. Bristol types 1 and 2 accounted for 6.53% and 54.60% respectively. The main associated signs were abdominal pain (29.4%), followed by abdominal bloating (20.96%). Abdominal pain was functional in 73.58% of cases. Under treatment, 90.19% of children had a favorable outcome. Conclusion: Constipation is common in Senegalese children with a prevalence close to that reported in Western countries. In most case, it is functional with good prognostic.
文摘BACKGROUND A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery.Persistent obstructive symptoms may result in faecal stasis that can develop into Hirschsprung-associated enterocolitis,a potential life-threatening condition.Important treatment to improve faecal passage is internal anal sphincter relaxation using botulinum toxin injections.AIM To give an overview of all empirical evidence on the effectiveness of botulinum toxin injections in patients with Hirschsprung disease.METHODS A systematic review and meta-analysis was done by searching PubMed,EMBASE and the Cochrane Library,using entry terms related to:(1)Hirschsprung disease;and(2)Botulinum toxin injections.14 studies representing 278 patients met eligibility criteria.Data that were extracted were proportion of patients with improvement of obstructive symptoms or less enterocolitis after injection,proportion of patients with adverse effects and data on type botulinum toxin,mean dose,average age at first injection and patients with associated syndromes.Random-effects meta-analysis was used to aggregate effects and random-effects meta-regression was used to test for possible confounding factors.RESULTS Botulinum toxin injections are effective in treating obstructive symptoms in on average 66%of patients[event rate(ER)=0.66,P=0.004,I2=49.5,n=278 patients].Type of botulinum toxin,average dose,average age at first injections and proportion of patients with associated syndromes were not predictive for this effect.Mean 7 duration of improvement after one botulinum toxin injections was 6.4 mo and patients needed on average 2.6 procedures.There was a significant higher response rate within one month after botulinum toxin injections compared to more than one month after Botulinum toxin injections(ER=0.79,vs ER=0.46,Q=19.37,P<0.001).Botulinum toxin injections were not effective in treating enterocolitis(ER 0.58,P=0.65,I2=71.0,n=52 patients).There were adverse effects in on average 17%of patients(E
文摘Hirschsprung’s disease(HSCR)is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction.Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment.Hirschsprung’s disease associated enterocolitis(HAEC)is an inflammatory complication associated with HSCR that can present either in the pre-or postoperative period and associated with increased morbidity and mortality.The pathogenesis of HAEC remains poorly understood,but intestinal dysmotility,dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role.There is no clear definition for HAEC,but the diagnosis is primarily clinical,and treatment is guided based on severity.Here,we aim to provide a comprehensive review of the clinical presentation,etiology,pathophysiology,and current therapeutic options for HAEC.
基金National Natural Science Foundation of China(82071685 to FJX)Clinical Research Pilot Project of Tongji Hospital(2019YBKY026 to FJX)+2 种基金Provincial Key Research and Development Program(2020BCB008 to FJX)Science and Technology Innovation Base Platform(2020DCD006 to FJX)Project of Shenzhen San Ming(SZSM201812055 to FJX).
文摘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.
