Relationship between polymorphisms and haplotypes of RET gene and Hirschsprung's disease / 中华消化外科杂志

Objective To study the relationship between polymorphisms of RET gene and the incidence of Hirschsprung's disease, investigate the haplotypes of RET gene in patients with Hirschsprung's disease, and analyze the characteristics of single nucleotide polymorphisms of RET gene in Zhejiang Han population. Methods Peripheral blood samples were collected from 123 patients with Hirschsprung's disease and 194 healthy children from 2005 to 2007 at Children's Hospital of Zhejiang University. G enomic DNA was extracted from the peripheral blood, and the genotypes were analyzed using polymerase chain reaction and direct sequencing. The frequencies of haplotypes were estimated using the PHASE software. The frequencies of RET alleles of the 194 healthy children were compared with those of other races. The correlation between RET gene and Hirschsprung's disease was analyzed using the chi-square test, and it was expressed in the form of odds ratio and 95% confidence interval.Results Increased risk of Hirschsprung's disease was observed in homozygous genotypes of the RET alleles -5AA, - 1CC, c135AA and c2307GG when compared with other genotypes ( x2 =57. 775, 20.469, 57. 040,38. 869, P ＜ 0. 05 ). Increased risk of Hirschsprung's disease was also observed in RET alleles -5A, - 1 C,c135A, c2307G when compared with other alleles ( x2 = 85.114, 53.117, 77. 005, 70. 161, P ＜0.05). There was no relationship between the frequencies of the alleles and the types of Hirschsprung's disease ( x2= 0.048,0.265, 0. 395, 0.027, P ＞ 0.05 ). The percentage of patients with haplotype ACAG was 75.2%, which was significantly higher than that of 38.7% in healthy children ( x2 = 62. 776, P ＜ 0.05 ). The frequencies of Hirschsprung's disease-associated alleles of RET - 5A, c135A and c2307G in Chinese were significantly higher than thosein the Caucasians or Yorubas (P＜0.05). Conclusions RET -5G＞A, -1A ＞C, c135G＞A and c2307T ＞ G are associated with Hirschsprung's disease and haplotype ACAG is the core one in Zhejiang Han population. There is no relationship between the frequency of allele and the types of Hirschsprung's disease. The frequencies of alleles of RET -5A, c135A and c2307G in Chinese are significantly higher than those in the Caucasians or Yorubas.

The treatment of cystic lymphangioma with ultrasound-guided intralesion injection of Bleomycin / 中国普通外科杂志

50% response) in 3 cases(10%),poor in 3 cases. Conclusions Ultrasound-guided intralesion injection of Bleomycin is effective therapy for cystic lymphangioma in children.

Diagnosis and surgical treatment of neuronal intestinal dysplasia type B in childhood / 中国普通外科杂志

Objective To evaluate the diagnosis and treatment of intestinal neuronal dysplasia type B (IND) in childhood. MethodsForty-five patients underwent preoperative barium enema examination, 23 patients underwent electromanometry, and mucosal biopsy and immunohistochemical staining for S100 protein were performed in 17 cases. All 45 patients underwent resection of the invalid segment with coloproctostomy. Whole layer was sampled on several sites of the resected segment and examined by two independent pathologists. All patients were followed up from 3 months to 9 years (mean 4.6 years).ResultsTwenty eight patients were complicated with Hirschsprung′s disease, one patient with hypogangliosis, and isolated IND was diagnosed in the other 16 children. The narrowed distal segment with proximal dilatation was merely noted in 4 children with isolated IND. Internal sphincter relaxations were missing in 6 children with isolated IND. The indicative diagnosis might be merely gained in 7 patients by the mucosa biopsy. The correct diagnosis can be established by whole layer biopsy of the resected segment. Three children with enterocolitis after operation were cured by conservative treatment. One patient suffering from postoperative sluice syndrome underwent second resection. Postoperative continence was achived in all patients. ConclusionThe correct diagnosis of IND can be obtained by biopsy of whole layer, and resection of invalid bowel segment with coloproctostomy is the choice of therapy.

Neonatal intermediate and high imperforated anus treated by one-stage procedure / 中国普通外科杂志

Objective To evaluate one-stage procedure for the treatment of neonatal intermediate and high imperforated anus. Methods Clinical data of 21 neonates with intermediate or high imperforated anus undergoing one-stage surgical procedure were summarized. Results Postoperative complication included mucous overlap and soiling in 1 case, and occasional soiling in 2 cases. No postoperative constipation developed in any case. Conclusions Neonatal one-stage procedure avoids short comings often seen in staged procedures and needs no colostomy, promoting hyperplasia and prolongs sphincter during early stage, preventing secondary megacolon.