Accidental ingestion of multiple magnetic beads by children and their impact on the gastrointestinal tract: a single-center study.

OBJECTIVE: In this study, we aimed to enhance the treatment protocols and help understand the harm caused by the accidental ingestion of magnetic beads by children. METHODS: Data were collected from 72 children with multiple gastrointestinal perforations or gastrointestinal obstructions. The 72 pediatric patients were divided into a perforation and a non-perforation group. The data collected for the analysis included the gender, age, medical history, place of residence (rural or urban), and symptoms along with the educational background of the caregiver, the location and quantity of any foreign bodies discovered during the procedure, whether perforation was confirmed during the procedure, and the number of times magnetic beads had been accidentally ingested. RESULTS: The accuracy rate of preoperative gastrointestinal perforation diagnosis via ultrasound was 71%, while that of the upright abdominal X-ray method was only 46%. In terms of symptoms, the risk of perforation was 13.844 and 12.703 times greater in pediatric patients who experienced vomiting and abdominal pain with vomiting and abdominal distension, respectively, compared to patients in an asymptomatic state. There were no statistical differences between the perforation and the non-perforation groups in terms of age, gender, medical history, and the number of magnetic beads ingested (P > 0.05); however, there were statistical differences in terms of white blood cell count (P = 0.048) and c-reactive protein levels (P = 0.033). A total of 56% of cases underwent a laparotomy along with perforation repair and 19% underwent gastroscopy along with laparotomy. All pediatric patients recovered without complications following surgery. CONCLUSION: Abdominal ultrasonography and/or upright abdominal X-ray analyses should be carried out as soon as possible in case of suspicion of accidental ingestion of magnetic beads by children. In most cases, immediate surgical intervention is required. Given the serious consequences of ingesting this type of foreign body, it is essential to inform parents and/or caregivers about the importance of preventing young children from using such products.

Exploration of pathogenic microorganism within the small intestine of necrotizing enterocolitis.

BACKGROUND: Necrotizing enterocolitis (NEC) is the most common severe gastrointestinal emergency in neonates. We designed this study to identify the pathogenic microorganisms of NEC in the microbiota of the small intestine of neonates. METHODS: Using the 16S ribosomal DNA (rDNA) sequencing method, we compared and analyzed the structure and diversity of microbiotas in the intestinal feces of different groups of neonates: patients undergoing jejunostomy to treat NEC (NP group), neonates undergoing jejunostomy to treat other conditions (NN group), and neonates with NEC undergoing conservative treatment (NC group). We took intestinal feces and saliva samples from patients at different time points. RESULTS: The beta diversities of the NP, NN, and NC groups were all similar. When comparing the beta diversities between different time points in the NP group, we found similar beta diversities at time points E1 to E3 but significant differences between the E2-E3 and E4 time points: the abundances of Klebsiella and Enterococcus (Proteobacteria) were higher at the E1-E3 time points; the abundance of Escherichia-Shigella (Proteobacteria) increased at the E2 time point, and the abundance of Klebsiella decreased significantly, whereas that of Streptococcus increased significantly at the E4 time point. CONCLUSIONS: Our results suggest that the pathological changes of intestinal necrosis in the small intestine of infants with NEC are not directly caused by excessive proliferation of pathogenic bacteria in the small intestine. The sources of microbiota in the small intestine of neonates, especially in premature infants, may be affected by multiple factors.

Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population.

BACKGROUND: Biliary atresia (BA) is a major neonatal cholestatic disease and main indication for pediatric liver transplantation in the world. Recently, GPC1 has been implicated as a risk gene for BA by genetic studies and follow-up functional experiments on zebrafish. METHODS: Two common genetic variants of GPC1, rs2292832 and rs3828336, were selected systematically through 'SNPinfo', and were examined using TaqMan Genotyping Assays for association studies in a Chinese population containing 134 cases and 618 controls. RESULTS: Of the two single nucleotide polymorphisms (SNPs), we found a significantly decreased BA risk associated with rs2292832 (additive model: OR=0.638, 95% CI: 0.467-0.873, P=0.005), and a marginal effect for rs3828336 (heterozygous model: OR=0.564, 95% CI: 0.312-1.020, P=0.058). The haplotype analysis indicated that either Crs2292832-Crs3828336&Trs3828336 or Trs2292832-Trs3828336 conferred a protective effect from BA (OR=0.569, 95% CI=0.414-0.783, P<0.001; OR=0.528, 95% CI: 0.301-0.926, P=0.026). Moreover, bioinformatics analysis suggested that rs2292832 altered GPC1 expression via effect on transcription-factor-binding sites (TFBS) of upstream binding transcription factor (UBTF), as a regulatory DNA variation in Deoxyribonuclease I (DNase I) hypersensitive sites (DHSs). CONCLUSION: Common variants of GPC1 gene were genetically involved in BA risk.

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. We identified 61 different heterozygous RVs (50 novel) distributed among 100 patients (16.64%). Those include 14 silent, 29 missense, 5 nonsense, 4 frame-shifts, and one in-frame amino-acid deletion in the CDS, two splice-site deletions, 4 nucleotide substitutions and a 22-bp deletion in the intron/exon boundaries and 1 single-nucleotide substitution in the 5' untranslated region. Exonic variants were mainly clustered in RET the extracellular domain. RET RVs were more frequent among patients with the most severe phenotype (24% vs. 15% in short-HSCR). Phasing RVs with the RET HSCR-associated haplotype suggests that RVs do not underlie the undisputable association of RET common variants with HSCR. None of the variants were found in 250 Chinese controls.

Laparoscopic excision of choledochal cyst and Roux-en-Y hepaticojejunostomy in symptomatic neonates.

PURPOSE: Choledochal cysts require surgical excision, preferably before the onset of cholangitis. Recently, it has become feasible to accomplish the excision laparoscopically in adults and older children. Yet, whether laparoscopic excision of choledochal cyst can be performed safely in symptomatic neonates with choledochal cyst is unclear. We herewith reviewed our experience of laparoscopic excision of choledochal cysts in neonates. METHODS: We managed 9 neonates with choledochal cysts between April 2003 and February 2007. The choledochal cysts were excised laparoscopically. The Roux-en-Y hepaticojejunostomy was fashioned extracorporeally by exteriorizing the jejunum through the extended umbilical port site. End-to-side anastomosis between the common hepatic duct stump and Roux loop was carried out intracorporeally. The patients were followed up for an average of 26 months. RESULTS: The patients presented with jaundice, pale stool, and deranged liver function tests. The diagnosis was confirmed with ultrasonography postnatally. The median operation time was 3.6 hours. There was no operative complication and no conversion. The blood loss was minimal. The recovery was uneventful, and the median hospital stay was 6 days. The liver function tests normalized 3 to 16 weeks postoperatively. No complication was detected at the follow-up visits. CONCLUSIONS: Our preliminary results show that laparoscopic excision of choledochal cyst and Roux-en-Y hepaticojejunostomy in neonates is both feasible and safe. It curtails further complication of the cysts and reverses the derangement of liver function. In addition, the laparoscopic approach minimizes surgical trauma.

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. To identify these additional genetic loci, we carried out a genome-wide association study using the Affymetrix 500K marker set. We successfully genotyped 293,836 SNPs in 181 Chinese subjects with sporadic HSCR and 346 ethnically matched control subjects. The SNPs most associated with HSCR were genotyped in an independent set of 190 HSCR and 510 control subjects. Aside from SNPs in RET, the strongest overall associations in plausible candidate genes were found for 2 SNPs located in intron 1 of the neuregulin1 gene (NRG1) on 8p12, with rs16879552 and rs7835688 yielding odds ratios of 1.68 [CI(95%):(1.40, 2.00), P = 1.80 x 10(-8)] and 1.98 [CI(95%):(1.59, 2.47), P = 1.12 x 10(-9)], respectively, for the heterozygous risk genotypes under an additive model. There was also a significant interaction between RET and NRG1 (P = 0.0095), increasing the odds ratio 2.3-fold to 19.53 for the RET rs2435357 risk genotype (TT) in the presence of the NRG1 rs7835688 heterozygote, indicating that NRG1 is a modifier of HSRC penetrance. Our highly significant association findings are backed-up by the important role of NRG1 as regulator of the development of the enteric ganglia precursors. The identification of NRG1 as an additional HSCR susceptibility locus not only opens unique fields of investigation into the mechanisms underlying the HSCR pathology, but also the mechanisms by which a discrete number of loci interact with each other to cause disease.

Laparoscopic hepatojejunostomy for biliary atresia.

PURPOSE: The aim of this study was to evaluate the feasibility of laparoscopic hepatojejunostomy for types I and II biliary atresia (BA). MATERIALS AND METHODS: Between April 2003 and July 2007, 10 children with "correctable" types I and II BA were enrolled for the study. They presented with progressive jaundice, pale stools, and elevated aspartate transferase and alanine transferase levels. There were 6 girls and 4 boys, with ages ranging from 23 to 160 days (median,53). All BA had cysts of extrahaptic bile ducts. There were 6 type I and 4 were type II BA. The median diameter of the cysts was 1.5 cm (range, 1.0-1.8). All 10 children underwent laparoscopic cyst excision with Roux-en-Y hepatojejunostomy. Four trocars were inserted. The distal end of the cyst was resected.and a Rouxen-Y hepatojejunostomy was fashioned. The patients were followed up on median for 26 months (range, 4-51). RESULTS: The median duration of the operation was 3.0 hours (range, 2.4 - 3.2). There were no intraoperative complications. The blood loss was between 5 to 10 mL. Postoperatively, patients passed flatus after 18 hours(range, 16-28), and resumed oral intake in 20 hours (range, 16-30). Normal colored stools were passed after 3 days (range, 2-4). Jaundice started to disappear on postoperative day 10 (range, 7-16). In 6 cases, the total and the direct bilirubin were normalized on postoperative day 14-3 in 3 weeks. One patient had a persistent elevation of bilirubin. The postoperative course was uneventful in all patients. The median postoperable hospital stay was 7 days (range, 5-9). No postoperative complication was found at the follow-up visits. CONCLUSIONS: The laparoscopic Kasai' operation for children with type I or II biliary atresia is feasible, safe, and effective.

Total extrapleura sternal elevation for the correction of pectus excavatum in children.

PURPOSE: The aim of this study was to evaluate the efficacy and safety of the thoracoscopic total extrapleural approach of the Nuss procedure for the correction of pectus excavatum in children. MATERIALS AND METHODS: Under thoracoscopic guidance, an extrapleural tunnel was created by using a blunt dissector via a right thoracic incision. A steel bar was inserted in the entirely extrapleural tunnel. The bar was turned and fixed as in the standard Nuss procedure. RESULTS: The operations were completed successfully in all patients. The operating time ranged from 35 to 50 minutes (median, 45). The intraoperative blood loss was 2 to 3 mL. There was no pneumothorax or hydrothoraxin our series. All patients were followed up for 2-6 months, and the surgical outcomes were excellent. CONCLUSIONS: The extrapleura Nuss procedure under thoracoscopic guidance is a safe and less traumatic procedure for the correction of pectus excavatum.

Mutational analysis of SHH and GLI3 in anorectal malformations.

BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants.

Mapping of a Hirschsprung's disease locus in 3p21.

Hirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6 Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6 Mb of the 3p21 region. A five-marker haplotype, spanning a 118 kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent sample of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.

[Total cyst excision with ultrasonic scalpel under the laparoscope for choledochal cyst].

OBJECTIVE: To discuss the technique and its advantage on application of ultrasonic scalpel in laproscopic cyst excision with Roux-en-Y hepatoenterostomy. METHODS: Forty-five cases were undergone laparoscopic cyst excision with Roux-en-Y hepatoenterostomy by ultrasonic scalpel. After intraoperative cholangiogram, the gallbladder and the dilated bile duct were completely excised by ultrasonic scalpel. Roux-en-Y hepatoenterostomy was performed extracorporeally through umbilical incision, then an end-to-side anastomosis was carried out intracorporeally. RESULTS: All 45 cases were completely accomplished under laparoscope combined with ultrasonic scalpel. Median duration of operation was 4.2 h (3.5-6.0 h). Intraoperative bleeding was between 10-50 ml (median 15 ml). No complication were found during operation. All children were discharged in 3-9 d (median 5.5 d) after operation. Thirty-eight cases were followed up 1-18 months. No stenosis or ileus occurred. Liver functions were in normal level. CONCLUSIONS: Total cyst excision with Roux-en-Y hepatoenterostomy by ultrasonic scalpel under the laparoscope was effective and safe for choledochal cyst. The most excellence was that clearly viewing during operation, less bleeding and injury, free of pain postoperation, microincision and scar.