Three dimension high definition manometry evaluated postoperative anal canal functions in children with congenital anorectal malformations.

Background: We aimed to evaluate the function of the reconstructed anal canal in postoperative anorectal malformations (ARMs) patients through three dimension (3D) high-definition anorectal manometry. Methods: From January 2015 to December 2019, 3D manometry was performed as a postoperative functional assessment of patients with ARMs divided into age subgroups based on the time of manometry. Manometric parameters, such as the length of the anorectal high-pressure zone (HPZ-length), the mean resting and squeeze pressure of HPZ (HPZ-rest and HPZ-sqze), recto-anal inhibitory reflex (RAIR), and strength distribution of the anal canal, were collected and compared with age-matched controls. Their functional outcomes were analyzed with SPSS 23.0 software for statistical analysis. Results: 171 manometric measurements were performed on 142 postoperative patients (3 months∼15 years). The HPZ-rest in all patients was significantly lower than in age-matched controls (p < 0.05). HPZ-sqze was notably decreased in patients older than 4 years, whereas other age groups were comparable to controls (p < 0.05). The proportions of asymmetric strength distribution and negative RAIR were higher in ARMs patients. The type of anorectal malformations and lower HPZ-rest were the impact factors affecting postoperative functional outcomes. Conclusions: The majority of the ARMs patients had acceptable functional outcomes. 3D manometry can objectively assess the reconstructed anal canal function. The patients with fecal incontinence had a high proportion of extremely low HPZ-rest and HPZ-sqze, negative RAIR, and asymmetric strength distribution. The manometric details will help the clinicians explore the causes of defecation complications and guide further management.

Three dimension high-definition manometry in evaluation of anorectal function in 104 normal infants and children: A clinical study from China.

BACKGROUND: We aimed to evaluate anorectal function of normal infants and children through three dimension high-definition anorectal manometry (3D ARM) to fill the research blank in this area. METHODS: From November 2014 to January 2019, 104 normal infants and children among patients who underwent 3D ARM were divided into four groups according to age (≤1 month; >1 month to ≤1 year; >1 year to ≤4 years and >4 years) and reviewed. The following parameters were performed: the length of anorectal high-pressure zone (HPZ), the resting pressure of HPZ (HPZ-rest), the squeezing pressure of HPZ (HPZ-sqze), recto-anal inhibitory reflex (RAIR), and pressure distribution of the anal canal. Graphpad Prism 7.0 software was used for statistical analysis. RESULTS: HPZ, HPZ-rest, and HPZ-sqze increased with age. There were differences in HPZ-rest and HPZ-sqze between the groups (p < 0.05). Sex had a significant effect on HPZ, but not on HPZ-rest and HPZ-sqze. The HPZ of males was higher than that of females among those ≤1 month old (p < 0.05). RAIR (-) was found in 17 patients (16%) for whom Hirschsprung's disease were excluded by biopsy, and these patients had regular defecation during follow-up. Most of the patients (85%) older than 1 year had a symmetric anal pressure distribution during the contracting period (p < 0.05). CONCLUSIONS: Anal canal function parameters gradually increased with age in normal infants and children which demonstrated the important role of age in evaluation, and these parameters can provide a reference for postoperative evaluation of anal canal function.

Risk factors of enterostomy in neonates with Hirschsprung disease.

PURPOSE: This study was aiming to explore the risk factors contributing to enterostomy in neonates with Hirschsprung disease (HD) to provide a reference for clinicians to make treatment decisions. METHODS: Medical records of 284 patients diagnosed with HD during the neonatal period were retrospectively analyzed. The patients were divided into 2 groups based on operative intervention (one stage transanal pull-through, versus enterotomy and staged transanal pull-through). Univariate and multivariable logistic regression analysis was performed to identify risk factors contributing to enterostomy. RESULTS: The incidence of enterostomy was 12.0% (34/284) in neonates with HD. Univariate and multivariate logistic regression analysis showed that serum albumin < 25.4 g/L, radiographic results as subphrenic free air, and level of aganglionosis with long-segment or total colonic aganglionosis (TCA) were independent risk factors of enterostomy in neonates, with OR of 42.045 (6.131, 288.319), 285.558 (26.651, 3059.694) and 15.573 (4.319, 56.157), respectively. CONCLUSIONS: The low serum albumin level, bowel perforation, and level of aganglionosis with long-segment or TCA could influence the occurrence of enterostomy in neonates with HD.

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.

Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity. Missense mutations in TTC7A gene, usually retaining most of the functional motifs, is associated with relative milder clinical presentations. In this study, we reported a patient who was suffering from severe multiple intestinal atresia (MIA) with combined immunodeficiency (CID) that led to the pyloric diaphragm, ileum atresia, colon stenosis, and multiple episodes of sepsis. In spite of several surgeries and supportive treatment, the patient died of severe sepsis and multiple organ failure at age of 3 months. The whole exome sequencing (WES) of peripheral blood samples identified a novel homozygous TTC7A missense mutation (c. 206T>C, p. L69P), inherited from his parents with consanguineous marriage. In silico analysis revealed that a hydrogen bond present between Gly65 and Leu69 in the wild-type TTC7A was disrupted by the Leu69Pro mutation. Moreover, this homozygous missense mutation led to a reduced TTC7A expression in lymphocytes and intestinal tissues, accompanied by impeded lymphocyte development. Further studies demonstrated that the PI4K-FAM126A-EFR3A pathway was impaired in colon tissues. Our data strongly support the linkage of severe MIA-CID with the missense mutation in TTC7A gene. More knowledge of the TTC7A protein functions will have important therapeutic implications for patients with MIA-CID.