| The mid-term outcomes of TRM-PIAS,proctocolectomy and ileoanal anastomosis for total colonic aganglionosisBackground:The present study aimed to evaluate the mid-term outcomes of total colonic aganglionosis(TCA)after transanal rectal mucosectomy and partial internal anal sphincterectomy(TRM-PIAS),proctocolectomy and ileoanal anastomosis.Patients and methods:From 2012 Jan to 2016 Nov,forty patients(25 boys;62.5%)diagnosed with TCA and treated with the TRM-PIAS,proctocolectomy and ileoanal anastomosis.The complications were evaluated.The mid-term functional outcomes were assessed by using a score system.Seven TCA patients who underwent laparotomy-assisted endorectal pull-through(LEPT)between 2010 and 2012 were used as control group.Results:Thirty-four patients have been followed up for one year.The incidence of postoperative HAEC was 73.5%and ninety-two percent of them were occasional.The incidence of postoperative HAEC in the TRM-PIAS group was significantly lower(25.0%vs.85.7%,P<0.05)than control group within the second postoperative year.The number of bowel movement was 3.7±2.3(1-10)per day.Twenty-two(64.7%)patients showed no soiling and twenty-five(73.5%)patients showed no perianal excoriation.According to the 2006 WHO Child Growth Standards,thirty(88.2%)patients grew normal.According to the previously study,the objective bowel function was assessed by using a published score system.11-16 points were considered as good,6-10 was fair and 0-5 was poor,respectively.All patients showed good functional outcomes(14.5 ± 1.3points)overall.The TRM-PIAS group was better in terms of overall outcome,bowel movement and soiling.Conclusion:TRM-PIAS,proctocolectomy and ileoanal anastomosis might be an effective treatment for TCA.The incidence of HACE was high in the early-term post-operation.Endoscopic decompression tube placement for the long-segment Hirschsprung diseaseBackground:The long-segment Hirschsprung disease(L-HD)is still intractable for the pediatric surgeons.Enterostomy is often the initial treatment.If bowel decompression could be achieved endoscopically by placing a tube across the transitional zone,some of these patients may avoid staged operation or high-risk PT.Materials and Methods:After the rectal mucosa biopsy,9 patients(eight L-HD and one with the transitional zone proximal to the middle of descending colon)underwent endoscopic decompression tube placement(EDTP).If the HACE and physical condition had improved significantly,the body weight was more than 4.5kg and/or the patient was over 3 month of age,the patients were then readmitted and underwent the laparoscopic assisted PT.Result:They underwent EDTP at the age between 11d to 228d(median 41d).The median body weight(BW)was 3.8kg(2.5 to 8.4kg).The median endoscopic operative time was 42.5 min(35-60min).The abdominal distention and HAEC were relieved,body weight increased and oral feed well-tolerated in all the patients after intubation without the need of TPN.There was no major complication.Six of the patients had undergone the TRM-PIAS,laparoscopic assisted pull-through.The definitive pull-through procedure was performed at the median age of 88.5d(range 59-113d)with the median body weight 5.65kg(4.6 to 7.0kg).The median PT operative time was 165 min(range 120—210mins).Blood loss was 5 to 15ml.The median length of resected colon was 45 cm(range 40-70cm).All of them recovered uneventfully.Conclusion:The endoscopic decompression tube placement and followed one-stage laparoscopic PT might be a feasible strategy for L-HD in some of infant patients.The tubes should be modified for better anchoring and extensive usage.Exploring somatic mutation rate in Chinese Hirschsprung disease patients by genotyping 3 SNPs in RETBackground:Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease(HSCR)patients.This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms(SNPs)among blood and colon samples.Materials and Methods:DNA was extracted from 59 HSCR blood samples,59 control blood samples and 76 fresh frozen colon tissue samples(grouped into ganglionic,transitional and aganglionic level).Genotype status of rs2435357 and rs2506030 was examined by competitive allele specific hydrolysis probes(Taqman)PCR technology,and rs2506004 was examined by Sanger sequencing.Homozygous genotype percentage and risk allele frequency were calculated for each type of sample and compared by chi-square test.P<0.05 was regarded as being statistically significant.Result:Colon tissue DNA samples showed similar frequency of SNPs as that of the blood DNA samples in HSCR patients,both of which are significantly higher than the control blood group(rs2435357 TT genotype:71.2%,74.7%vs.22.0%in HSCR blood,HSCR colon and control blood DNA respectively,P=0.000;rs2506004 AA genotype:72.4%,83.1%vs.25.5%,P=0.000;rs2506030 GG genotype:79.7%,77.2%vs.54.2%,P=0.000 and 0.004).With respect to DNA extracted from ganglionic,transitional and aganglionic levels,no statistically significant difference was demonstrated in those 3 regions(rs2435357:P=0.897;rs2506004:P=0.740;rs2506030:P=0.901).Conclusion:Our data does not support the notion that high frequency of somatic changes as an underlying etiology of Chinese HSCR population. |
PDF Full Text Request