Laparoscopic management of benign splenic tumors in children.

Background: The splenic tumor is relatively rare in children. However, diagnosing and managing this disease remain controversial. This study aimed to evaluate the clinical characteristics and pathological features of benign splenic tumors and to explore the feasibility and safety of laparoscopic splenectomy in children. Methods: The clinical data of all patients who were diagnosed with benign splenic tumors and admitted to our center between January 2014 and December 2020 were analyzed retrospectively. Factors that were documented included demographic criteria, clinical manifestations, preoperative examinations, surgical methods, histopathological characteristics, postoperative complications and outcomes. Results: Totally, 24 consecutive patients with a mean age of 10.21±2.59 years were operated laparoscopically. Nine patients presented with recurrent abdominal pain, vomiting or backache. The remaining 15 cases were asymptomatic and were identified incidentally. Laparoscopic total splenectomy (LTS) was performed in 12 cases, laparoscopic partial splenectomy (LPS) in 9 cases and deroofing of splenic cyst in 3 cases. No significant differences were observed in operation time, intraoperative bleeding and postoperative abdominal drainage between the LTS and LPS groups. Histopathology examination reported 12 cases of splenic epithelial cyst, 5 cases of splenic lymphangioma or lymphatic malformation, 3 cases of splenic hamartoma, 3 cases of splenic littoral cell angioma and 1 case of splenic hemangioma. No postoperative complications and tumor recurrence were observed. Conclusions: It is still difficult to precisely diagnose the splenic tumor preoperatively. Laparoscopic splenectomy is safe and feasible in treating the benign splenic tumors, and partial splenectomy is of great significance in preserving the immune function in children.

Robotic-assisted laparoscopic management of mesenteric cysts in children.

Background: Mesenteric cysts (MCs) are rare intra-abdominal masses in children, and laparoscopic complete cyst resection is still difficult. This study reviewed our experience in diagnosing and managing MCs at our center, focusing on the clinical characteristics of MCs and the effectiveness of robotic-assisted laparoscopic surgery. Methods: We conducted a retrospective analysis of the records of all patients diagnosed with MCs and managed with robotic-assisted laparoscopic surgery at our center between February 2021 and August 2022. We analyzed demographic characteristics, clinical manifestations, preoperative imaging data, surgical methods, postoperative complications, and final outcomes. Results: Totally, 12 consecutive patients with a mean age of 5.81 ± 3.02 years were admitted. The most common symptom was abdominal pain (58.33%). Eight patients were associated with cyst complications, including five cases of infection, two cases of volvulus, and one case of hemorrhage. The mean size of cysts was 8.39 ± 5.91 cm. The cysts were located in ileal mesentery in eight cases, lesser curvature of the stomach in two cases, and colon mesentery in two cases. Solely cyst excision was performed in eight cases, and bowel en bloc resection of the cyst in four cases. Robotic-assisted laparoscopic surgery was performed successfully in all patients, without conversion. The mean operation time was 106.17 ± 33.74 min. Pathological results reported lymphangioma or lymphatic malformation in all patients. Two cases of chylous leakage were treated conservatively, and no complications of peritoneal infection, anastomotic leakage, and recurrence were observed. Conclusions: Mesenteric cysts should be removed promptly once the diagnosis is confirmed to avoid cyst complications. For uncomplicated mesenteric cysts, laparoscopic cyst excision, or cyst excision with bowel resection can be effectively performed in children, especially under the robot system.

Multifaceted behavior of Meckel's diverticulum in children.

PURPOSE/BACKGROUND: Meckel's diverticulum (MD) is one of the most common congenital malformations of gastrointestinal tract in children. However, the nonspecific clinical manifestations of MD often cause a diagnostic as well as therapeutic challenge to pediatric surgeon. This study aimed to review our experience in managing this disease while evaluating the management strategies. METHODS: We retrospectively analyzed the clinical data of all patients diagnosed with MD admitted to our center between January 2010 and December 2015. Factors documented including demographic criteria, clinical manifestations, preoperative examinations, surgical methods, histopathological characteristics, postoperative complications, and outcomes. RESULTS: The patients included 210 males and 76 females, aged from 1day to 15years. In fifty three patients, the MD was an incidental finding at laparotomy or laparoscopy. The remaining 233 patients were symptomatic and presented with various clinical features. Ninety nine patients presented with episodes of bleeding per rectum or melena. Fifty six patients demonstrated symptoms of diverticulitis or perforated MD. Forty patients were diagnosed as intestinal obstruction, and 35 patients with intussusception requiring surgical reduction. Two cases of Littre hernia and one case of foreign body trapped in MD were also observed in this group. Six patients misdiagnosed as appendicitis at another institution were reoperated in our department. Among the 99 patients with bleeding per rectum, 78 underwent a Tc-99m scan that showed a positive tracer in 55 patients and negative in 23. All patients underwent resection of the diverticulum, except for 2 cases of postponed resection. Histology revealed ectopic gastric mucosa or ectopic pancreatic tissue in 154 patients; significant differences were observed between the symptomatic group and the accidentally found group. One patient died of peritonitis and sepsis postoperatively; one case of anastomotic leak and one case of adhesive intestinal obstruction were reoperated. CONCLUSION: Meckel's diverticulum has various clinical presentations and it is difficult to make a precise diagnosis preoperatively. It is necessary to maintain a high suspicion of MD in the pediatric age group with symptoms of abdominal pain, gastrointestinal hemorrhage or intestinal obstruction. Heterotopic tissue is the main cause of complicated diverticulum, and it is safe and feasible to remove the incidentally found MD. Laparoscopy should become the first choice of methods in diagnosis and treatment of MD. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: Level IV.

Diagnosis and treatment of gastric duplication in children: A case report.

Gastric duplication is a rare congenital abnormality, and its diagnosis and treatment may be challenging in certain children. The present study reported four cases of gastric duplication who were followed-up and treated in the Children's Hospital of Zhejiang University between March 2010 and March 2015. The study aimed to increase the knowledge on this disease in order to improve the diagnosis and treatment, as well as decrease the possibility of misdiagnosis. Diagnosis could not be confirmed by the clinical manifestation, ultrasonography and computed tomography (CT). Therefore, laparoscopic examination and laparotomy were conducted, which confirmed the gastric duplication, and resection was performed according to the type of gastric duplication. Two patients received laparoscopy-assisted resection by removing the duplicated gastric tube through the navel, while one patient received total laparoscopic resection, and one patient received laparoscopy and laparotomy. The surgical procedures were performed without any issues, and no complications appeared following the surgery. The preoperative symptoms disappeared completely, and the patients recovered well according to the follow-ups conducted at 1 month, 1 year and 3 years for all four cases. In conclusion, gastric duplication is a rare condition and its preoperative diagnosis is difficult, and laparotomy is an effective method for diagnosis. Laparoscopy-assisted resection or total laparoscopic resection is preferred for uncomplicated gastric duplications, and simple excision can achieve a good therapeutic effect.

Preliminary identification of key miRNAs, signaling pathways, and genes associated with Hirschsprung's disease by analysis of tissue microRNA expression profiles.

BACKGROUND: Hirschsprung's disease (HSCR) is a congenital gut motility disorder of infants, and if left untreated, it is fatal to the affected infants. This study aimed to identify key microRNAs (miRNAs), signaling pathways and genes involved in the pathogenesis of HSCR. METHODS: The miRNA microarray dataset GSE77296 was downloaded. Nine colon tissue samples were available: six from HSCR patients and three matched control samples. Differentially expressed miRNAs (DEMs) were identified after data preprocessing. Target genes of the selected upregulated and downregulated DEMs were predicted. In addition, functional enrichment analyses for the selected DEMs and target genes were conducted. Finally, interaction networks between the DEMs and target genes were constructed. RESULTS: A total of 162 DEMs (73 upregulated and 89 downregulated) were obtained. A total of 2511 DEM-target gene pairs for the 40 selected DEMs were identified, including 1645 pairs for the upregulated DEMs and 866 pairs for the downregulated DEMs. The upregulated DEM miR-141-3p and down-regulated DEM miR-30a-3p were identified as key miRNAs by Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment and network analyses. Besides, KEGG pathway enrichment analysis revealed that pathways in cancer and the mitogen-activated protein kinase (MAPK) signaling pathway were key pathways. The key genes frizzled class receptor 3 (FZD3) and docking protein 6 (DOK6) were obtained through the DEM-target gene interaction networks. CONCLUSION: Two key miRNAs (miR-141-3p and miR-30a-3p), the MAPK signaling pathway and two key genes (FZD3 and DOK6) were implicated in the pathogenesis of HSCR.

Clinical experience in the treatment of children who swallowed multiple magnetic foreign bodies: A report of five cases.

BACKGROUND: Several clinical reports have been published on complications resulting from swallowing multiple magnetic foreign bodies. This study aimed to summarize the clinical experience of managing children who swallowed multiple magnetic foreign bodies. METHODS: We reviewed the clinical records of five children who swallowed multiple magnetic foreign bodies and were admitted to our hospital during June 2012 to June 2014. Details of the patients' presentation, imaging studies, complications and treatment were recorded. RESULTS: All five children suffered from gastrointestinal perforation and intestinal obstruction. The magnetic foreign bodies caused local bowel wall tissue ischemia necrosis and perforation as well as other complications associated with fistula formation. The magnets were finally removed by laparotomy surgery. CONCLUSION: If magnetic foreign bodies cannot be removed by endoscopy, an operation is suggested as soon as possible to avoid serious complications.

Pancreatic hemangioendothelioma, an extremely rare vascular anomaly in children: A case report and literature review.

The current study presents the case of a female infant with pancreatic hemangioendothelioma (HE) and discusses this rare disease in terms of the clinical features, treatment principle and prognosis. An 8-month-old female with pancreatic HE was admitted to the Department of General Surgery in The Children's Hospital (Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) on January 3, 2011, due to yellow skin and sclera that had been apparent for 1 week. Magnetic resonance imaging (MRI) showed dilatation in the left and right hepatic, common hepatic and common bile ducts, a pancreatic head mass of ~4.7×5.2 cm with a strong signal, and close linkage of the portal vein and mesenteric vessels to the mass. Laparotomy was performed on January 11, 2011. An intraoperative frozen specimen showed a benign tumor. Finally, Whipple surgery retaining the tumor was chosen. The patient was treated by fasting, gastrointestinal decompression, antibiotics and supportive treatment post-surgery. Jaundice disappeared rapidly following the surgery. The patient started eating at 1 week post-surgery and was discharged 1 week later. From the pathological results, a diagnosis of pancreatic HE was made, with no tumor invasion of the hepatic lymph nodes. During the follow-up visit at 28 months post-surgery, the child showed good growth and development. MRI showed that the mass size was ~2.4×2.0×1.5 cm, which was a significantly decrease from previously. Additionally, a literature search showed that from 1973 to the present date, only 9 studies on children with HE of the pancreas have been reported. Childhood pancreatic HE is a rare form of pancreatic vascular anomaly, mainly occurring in infants. If the tumor oppresses the duodenum and invades the mesenteric vessels, Whipple surgery retaining the tumor could be performed.

Preoperative Interventional Therapy for Childhood Undifferentiated Embryonal Liver Sarcoma: Two Retrospective Cases from a Single Center.

Background Undifferentiated embryonal liver sarcoma (UELS) accounts for only 9 to 15% of all malignant liver tumors in children. Typically, UELS occurs in older children and presents as an abdominal mass. Most UELS are unresectable because of the later diagnosis. The outcome of UELS is very poor, with a 5-year overall survival of < 37.5%. Transarterial chemoembolization (TACE) has been reported to be an effective modality for unresectable liver tumors. To investigate the effects of TACE on UELS in children, we present two cases of children with UELS who underwent TACE and surgical resection in our center within the past 10 years. Methods In this study, two children with UELS were treated using TACE with cisplatin, doxorubicin, and iodized oil. The size of the tumors was measured before and after TACE using ultrasonography. Routine was also given before and after surgical resection. Side effects were recorded. Both patients had follow-up. Results After interventional therapy, both patients presented with vomiting, fever, and transient liver dysfunction without cardiac or renal dysfunction. One patient had bone marrow depression. The size of the tumors was reduced by 23% to 31% after TACE. The tumors were completely removed by surgical procedures after 4 weeks of TACE in both patients. One patient survived free of disease for 1 year, and the other survived free of disease for 9 years. Conclusion TACE yielded satisfactory results for unresectable UELS in children, with lower dosage of chemotherapy and fewer side effects. It may be applied as a preoperative therapy for children with unresectable UELS.

A clinical study of Timolol Maleate Eye Drops for the treatment of superficial infantile hemangiomas / 中华整形外科杂志

<p><b>OBJECTIVE</b>To dicuss the clinical efficacy of Timolol Maleate Eye Drops in the treatment of superficial infantile hemangiomas. Methods From April 2012 to May 2014, 210 patients with superficial infantile hemangiomas were included. According to the parents' choice, a total of 176 cases were treated with Timolol Maleate Eye Drops as the treatment group, and the 34 cases who received the treatment of "wait and see" was included in the control group. In the treatment group, the gauzes were dipped into the eye drops and putted evenly on the surface of the hemangioma, 3-4 times daily and lasted for more than 20 minutes. The gauze should completely cover the surface of the tumor. The follow-up periods were 3 weeks and 6 months after treatment with the pictures to record the treatment effect. The therapeutic effect was graded as: grade I (unable to control the growth of the hemangioma), II (the growth of the hemangioma stagnated), III (hemangioma significantly subsided), IV (the hemangioma completely disappeared). The effective rate included the cases with grade II and above grade II . The cure cases included the cases with grade IV. The data was analyzed with the statistical software SPSS 17.0 and the Chi-square test (P < 0.05).</p><p><b>RESULTS</b>3 cases in the treatment group showed eczema action. Tumor ulcer happened in 1 case in treatment group. The side effect rate was 2.3% . The results at 3 weeks following in the treatment group showed that the growth of the hemangioma were stagnated in 154 cases. The color of hemangioma became darker in different degrees than before, and the texture of the hemangioma became soft in majority of children, and the thickness of hemangioma became thinner in some cases. However, only 4 cases showed the hemangiomas were subsided, 18 cases showed the color of the part of the hemangiomas were brighter than before, and 12 cases of the hemangiomas remained original state in the control group. The results of 6 weeks following the treatment showed that 18 patients in the treatment group reached the standard of the grade IV, 84 patients reached the standard of the grade III, 60 patients achieved in the standard of grade II, and only 14 patients showed the volume of hemangiomas were increased as grade I. The effective rate was 58. 0% , and the cure rate was 10. 2% in treatment group. In control group, no children reached the standard of the grade IV, 4 cases reached the standard of grade III, 13 cases who remained original state reached the standard of grade II, and 17 cases showed the volume of hemangiomas continued to increase as grade I . The effective rate was 11. 8% , and the cure rate was 0. By comparison, the effective rate and the cure rate in the control group were relatively lower than those in the treatment group (P < 0.05).</p><p><b>CONCLUSIONS</b>The efficacy of Timolol Maleate Eye Drops in the treatment of superficial infantile hemangioma is exact, especially in the proliferative phase of the infantile hemangioma. It is safe and easy to perform with mild side effect. It should be selected as first-line treatment.</p>

Congenital duodenal obstruction in neonates: a decade's experience from one center.

BACKGROUND: Congenital duodenal obstruction (CDO) is one of the most common anomalies in newborns, and accounting for nearly half of all cases of neonatal intestinal obstruction. This study aimed to review our single-center experience in managing congenital duodenal obstruction while evaluate the outcomes. METHODS: We conducted a retrospective analysis of the records of all neonates dianogsed with congenital duodenal obstruction admitted to our center between January 2003 and December 2012. We analyzed demographic criteria, clinical manifestations, associated anomalies, radiologic findings, surgical methods, postoperative complications, and final outcomes. RESULTS: The study comprised 287 newborns (193 boys and 94 girls). Birth weight ranged from 950 g to 4850 g. Fifty-three patients were born prematurely between 28 and 36 weeks' gestation. Malrotation was diagnosed in 174 patients, annular pancreas in 66, duodenal web in 55, duodenal atresia or stenosis in 9, preduodenal portal vein in 2, and congenital band compression in 1. Twenty patients had various combinations of these conditions. Presenting symptoms included bilious vomiting, dehydration, and weight loss. X-rays of the upper abdomen demonstrated the presence of a typical double-bubble sign or air-fluid levels in 68.64% of patients, and confirmatory upper and/or lower gastrointestinal contrast studies were obtained in 64.11%. Multiple associated abnormalities were observed in 50.52% of the patients. Various surgical approaches were used, including Ladd's procedure, duodenoplasty, duodenoduodenostomy, duodenojejunostomy, or a combination of these. Seventeen patients died postoperatively and 14 required re-operation. CONCLUSIONS: Congenital duodenal obstruction is a complex entity with various etiologies and often includes multiple concomitant disorders. Timely diagnosis and aggressive surgery are key to improving prognosis. Care should be taken to address all of the causes of duodenal obstruction and/or associated alimentary tract anomalies during surgery.

ER stress and ASK1-JNK activation contribute to oridonin-induced apoptosis and growth inhibition in cultured human hepatoblastoma HuH-6 cells.

Oridonin, the main active component of Rabdosia rubescens, has antitumor activities in experimental and clinical settings. The aims of the current study were to explore the anticancer abilities of oridonin in hepatoblastoma (HB) HuH-6 cells and to investigate the underlying mechanisms. We found that oridonin inhibited HuH-6 cell in vitro growth in a dose- and time-dependent manner. Further, oridonin induced HuH-6 cell apoptosis and G2/M cell cycle arrest. Upon studying the mechanism, we found that oridonin treatment caused endoplasmic reticulum (ER) stress activation. Meanwhile, ER stress inhibitor salubrinal- or inositol-requiring enzyme 1 (IRE-1) shRNA silencing inhibited oridonin's anti-HuH-6 effects, while ER stress inducers thapsigargin (Tg) and tunicamycin (Tm) mimicked oridonin's actions on HuH-6 cells. Oridonin also activated apoptosis signal regulating kinase 1 (ASK1)-c-Jun N-terminal kinase 1 (JNK1) signaling in cultured HuH-6 cells, which was inhibited by IRE-1 silencing. Importantly, the JNK inhibitors suppressed oridonin-induced growth inhibition and apoptosis in HuH-6 cells. In conclusion, our results suggest that oridonin induces growth inhibition and apoptosis in cultured HuH-6 cells involving ER stress and ASK1/JNK signaling pathways, which enhances our understanding of the molecular mechanisms of oridonin in HB management.

Primary mixed germ cell tumor arising in the pancreatic head.

Germ cell tumors, comprised of gonadal and extra-gonadal types, are relatively rare tumors arising from primordial germ cells. Extra-gonadal germ cell tumors have been reported to occur at many non-gonadal locations, from the brain to the sacrococcygeal region. However, primary germ cell tumors in the pancreas are extremely rare. Herein, we present the first case of a 12-month-old girl with a primary mixed germ cell tumor, consisting of both endodermal sinus tumor and mature teratoma, in the pancreatic head.

[Emergency use of extracorporeal membrane oxygenation in pediatric critically ill patients].

OBJECTIVE: The history of clinical application of extracorporeal membrane oxygenation (ECMO) has been more than 30 years. But in China, there were only a few ECMO centers with limited successful cases reported by the end of twentieth century. The high morbidities and mortalities in current pediatric ECMO practice are noted in China. Therefore, it is necessary to review the experience on rescue use of ECMO in critically ill pediatric patients. METHOD: A retrospective analysis was done for patients who had been receiving ECMO treatment to rescue refractory cardiorespiratory failure from different causes in a hospital between July 2007 and May 2011. RESULT: A total of 12 patients were treated with ECMO; 7 of them were male and 5 female, they aged 6 days to 11 years, weighed 2.8 - 35 (17.21 ± 11.64) kg. The underlying causes of cardiorespiratory failure were as follows: two cases with acute respiratory distress syndrome (ARDS) leading to respiratory failure, 4 with failure of weaning from cardiopulmonary bypass, 3 with fulminant myocarditis, 1 with right ventricular cardiomyopathy leading to repeated cardiac arrest, 1 with preoperative severe hypoxemia, and 1 with anaphylactic shock complicated with massive pulmonary hemorrhage and severe hypoxemia. Of the 12 cases, 3 were established ECMO (E-CPR) while underwent chest compression cardiopulmonary resuscitation (CPR). The mean ECMO support time was 151.75 (15 - 572) h. Seven patients (58.33%) were weaned from ECMO, 6 patients (50.00%) were successfully discharged. Six cases had bleeding from sutures, 2 cases with severe bleeding underwent thoracotomy hemostasis, 2 presented with acute renal failure. Infection was documented in 3 cases, hyperbilirubinemia in 2 cases, lower limb ischemia in 1 case, hyperglycemia in 3 cases, disseminated intravascular coagulation in 1 case, membrane lung leakage in 2 cases, systemic hemolysis in 3 cases, oxygenator failure in 2 cases and oxygenator thrombosis in one case. During the follow-up between 6 months and 4.5 years, 5 patients survived with good quality of life, without any documented central nervous system disorders. One case survived with the right lower extremity disorder from ischemic damage. His motor function has been improved following orthopedic operation at one year after discharge. CONCLUSION: ECMO is a justifiable alternative treatment for reversible severe cardiopulmonary failure in critically ill children.

Incidence of pediatric metachronous contralateral inguinal hernia in children aged ≥1 year.

BACKGROUND: The management of the contralateral asymptomatic side when a child with initial unilateral inguinal hernia undergoes herniorrhaphy continues to be controversial. Age less than 6 months at initial herniorrhaphy is considered as a high risk factor of the occurrence of metachronous contralateral inguinal hernia (MCIH). We performed herniorraphy for patients ≥1 year with initial unilateral hernia at one-day-set outpatient-surgery department without any intervention of contralateral groin. In this study, we reviewed the characteristics of development of MCIH in this condition and discuss the management strategies of MCIH. METHODS: The subjects of this study were children who were treated at our outpatient-surgery department from January 2006 to December 2006. A total of 2129 patients with initial unilateral hernia and aged ≥1 year underwent an ipsilateral herniorhhaphy only. Patients were followed up for the development of MCIH to 60 months. The Chi-square test was used for intergroup comparison, a level of P<0.05 was considered as statistically significant. RESULTS: Among these children 1341 (63.0%) were obtained 60 months follow-up data, 1146 (85.5%) were boys and 195 (14.5%) were girls. MCIH developed in 70 (5.2%) patients, 61 were boys and 9 were girls. In 570 patients aged 12-23 months, 43 developed MCIH (7.5%); in 564 patients aged 24-59 months, 21 developed MCIH (3.7%); and in 207 patients ≥60 months, 6 patients developed MCIH (2.9%), the difference between these groups was highly significant (P=0.004). In male patients, 30 right-sided MCIHs occurred after 423 initial left-sided herniorrhaphies (7.1%) and 31 left-sided MCIHs occurred after 723 initial right-sided herniorrhaphies (4.3%), difference between these two groups was significant (P=0.041). Seventy-seven percent of the MCIHs occurred within 1 year, 94% occurred within 2 years after initial herniorraphy. CONCLUSIONS: As the overall incidence of MCIH in patients aged ≥1 year was 5.2%, routine contralateral groin exploration is not suggested. Transinguinal laparoscopy could be considered as an alternative of conventional "wait and see" policy, especially in patients less than 2 years or left-sided initial unilateral inguinal hernia. If "wait and see" policy is adopted, patients should be closely followed up for 2 years.

Laparoscopic cholecystostomy and bile duct lavage for treatment of inspissated bile syndrome: a single-center experience.

BACKGROUND: We aim to describe our experience of laparoscopic cholecystostomy and bile duct lavage in the treatment of inspissated bile syndrome. METHODS: Between January 2005 and December 2009, 16 infants with inspissated bile syndrome underwent laparoscopic cholecystostomy and bile duct lavage in our department. They were 7 males and 9 females, aged 40 days to 3 months, with an average of 65±23.4 days. A laparoscopic aided cholecystostomy was done. Cholangiography and bile duct lavage were performed during the operation. One week after the operation, bile duct lavage with saline was repeated every 2 to 3 days. According to bilirubin levels and liver function, the tube was kept for 2-4 weeks. RESULTS: The level of bilirubin decreased and liver function was greatly improved after bile duct lavage. Direct bilirubin level, aspartate aminotransferase and γ-GT were significantly decreased 1-2 months after the operation compared with those before surgery (P<0.05). CONCLUSIONS: The treatment strategy for inspissated bile syndrome with laparoscopic cholecystostomy and biliary duct lavage is feasible and effective.

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.

BACKGROUND: Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR. This study was conducted to examine the impact of the haplotypes profile of the reported associated SNPs of RET on the risk of HSCR in a Southeastern Chinese population. METHODS: Genotypes of -5G > A (rs10900296), -1A > C (rs10900297), c135G > A (rs1800858), c1296A > G (rs1800860), and c2307T > G (rs1800861) were analyzed in 123 HSCR patients and 168 controls by polymerase chain reaction amplification and direct sequencing. Associations with risk of HSCR were estimated by odds ratio (OR) and their 95% confidence intervals (95% CI) using logistic regression. RESULTS: We observed a significantly increased risk of HSCR associated with the RET -5AA (OR = 17.75, 95% CI = 7.34-42.92), -1CC (OR = 10.89, 95% CI = 3.13-37.85), 135AA (OR = 13.61, 95% CI = 6.14-30.14), 1296GG (OR = 2.40, 95% CI = 1.38-4.18) or 2307GG (OR = 9.79, 95% CI = 4.28-22.43) respectively. The five SNPs were in strong linkage disequilibrium. The haplotype A-C-A-G-G (OR = 5.06, 95% CI = 1.97-12.99) and diplotype A-C-A-G-G/A-C-A-G-G (OR = 21.08, 95% CI = 5.28-84.09) was also associated with the increased risk of HSCR, indicating a cumulative effect of these SNPs on the susceptibility of HSCR. CONCLUSION: These results support the hypothesis that common variations in RET pathway might play an important role in development of HSCR.

[The relationship between postoperative complication and pathological features of 324 patients with neuronal intestinal malformations].

OBJECTIVE: To investigate the relationship between the morphological features of different types of neuronal intestinal malformations (NIM) and their postoperative complications. METHODS: The data of morphological and clinical features of 324 cases with NIM were analyzed retrospectively. RESULTS: In all 324 patients, 210 cases were Hirschsprung's disease (HD), 38 intestinal neuronal dysplasia (IND), 45 mixed HD/IND, 8 hypoganglionosis, 22 combined HD/hypoganglionosis and 1 immaturity of ganglion cells. The percentages of normal neuron in bowel of different NIM were 88.1%, 24.4%, 18.4%, 4/8, 27.7% and 0/1 in HD, HD/IND, IND, hypoganglionosis, HD/hypoganglionosis and immaturity of ganglion cells respectively. There were totally 46 cases complicated with recurrent postoperative enterocolitis (EC). Incidence of recurrent postoperative EC in HD patients was 6.7% while in IND/HD and IND patients was 35.6% and 28.9%, respectively. Incidences of EC in cases with the residual IND margins and with the normal margins were 38.2% and 8.7%, respectively. Incidence of EC in cases with transanal endorectal pull-through procedure and with transabdominal procedure was 18.0% and 8.3%, respectively. Nine cases underwent another procedure because of severe persistent constipation or EC after operation, including 4 cases HD/IND, 1 case IND, 3 cases HD and 1 case HD/hypoganglionosis. CONCLUSIONS: Neuron distribution is inconsistent with pathology of NIM. Postoperative EC are rare in the patients only with isolated HD. Furthermore, margins with residual IND and transanal endorectal pull-through procedure are risk factors to recurrent EC. However, the extension of excision about IND is uncertain and need further study.