Hirschsprung disease (HSCR) is a congenital developmental defect of the enteric nervous system known to be associated with the RET-protooncogene and other candidates. Recently, a genome-wide association study has added NRG1, a regulator of the development of the enteric ganglia precursors, as a new candidate gene. The aim of this study is to validate the association of the RET-protooncogene and the NRG1 in HSCR in Thai patients. The study used TaqMan single-nucleotide polymorphism (SNP) genotyping and PCR-restriction fragment length polymorphism for genotyping of 10 SNPs within the RET-protooncogene and four SNPs within the NRG1, in 68 Thai sporadic HSCR cases and 120 ethnic-matched controls. On univariate disease association analysis, 9 of 10 RET-protooncogene SNPs and all four NRG1 SNPs showed an association with HSCR. The rs2435357 (RET-protooncogene) and rs2439305 (NRG1) showed the strongest associations with the disease at P-values of 8.17E-09 (odds ratio (OR)¼6.43, 95% confidence intervals (CI)¼3.33-12.40) and 6.94E-03 (OR¼3.28, 95% CI¼1.28-8.38), respectively. The RET-protooncogene rs2435357 (TT genotype) in combination with the NRG1 rs2439305 (GG genotype) was strongly associated with an increased risk of HSCR with a P-value of 1.99E-04 (OR¼20.34, 95% CI; 2.54-162.78) when compared with a single SNP of the RET-protooncogene or NRG1. Genetic variation of the RET-protooncogene and NRG1 is involved in the risk of HSCR development in the Thai population. Moreover, the study also detected a combined effect of SNPs by SNP-SNP interaction, which may help in predicting HSCR risk.

Surgery plays an important role in the management of snakebite patients, especially for those with cobra bite with tissue necrosis.

No abstract

Constipation is a common problem after reconstructive surgery for anorectal malformations. The underlying pathophysiology of the constipation in these patients is unclear. The objective of this study was to compare manometric disturbance in infants with and without post-anoplasty constipation. Anorectal manometry studies were performed within 12 months of anoplasty, as a part of the follow-up protocol, in 24 infants aged less than 3 years who had anorectal malformations. The manometric profiles studied were mean resting anal pressure (ArP), mean resting rectal pressure (RrP), mean resting rectoanal pressure gradient (RRPG), peak squeeze pressure (PSP), and the presence of the rectoanal inhibitory reflex (RAIR). Eight of 24 infants (33%) experienced constipation during the examination period. There was no difference in pressure profiles between low and non-low anomalies. In the non-constipation group, RrP was 5.1 mmHg, ArP was 21.0 mmHg, RRPG was 16.0 mmHg, and PSP was 88.4 mmHg. In the constipation group, RrP was 7.3 mmHg (p = 0.37), ArP was 37.5 mmHg (p = 0.03), RRPG was 3.05 mmHg (p = 0.05), and PSP was 81.7 mmHg (p = 0.77). RAIR was present in 93.75% of cases without constipation and 12.5% of cases with constipation (p < 0.01). One patient who had clinical conversion from constipation to a good result also showed positive conversion of the RAIR. RAIR and anal resting tone play important roles in emptying function. As far as possible, these functions should be preserved during reconstruction.

A case of initial esophageal atresia and tracheoesophageal fistula in a female newborn, later complicated by pneumonia and a second bronchoesophageal fistula, is reported. She was treated surgically by closure of the tracheoesophageal fistula and by end-to-end esophago-esophageal anastomosis. An esophagram at 1 month of age was normal. Three months later she developed severe, persistent right lower lobe pneumonia that required intensive antibiotic therapy and respiratory support. Esophagography was repeated and revealed a second fistula between the right main-stem bronchus and the lower esophagus. The bronchoesophageal fistula was repaired, and a right lower lobectomy was performed. Postoperative recovery was uncomplicated. Histologic examination indicated that the fistula was congenital in origin. To the best of our knowledge, this is the first reported case of a congenital bronchoesophageal fistula coexisting with a tracheoesophageal fistula and esophageal atresia.