ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

The Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene was first identified as a cause of lethal congenital contracture syndrome (OMIM 607598), while a recent study reported six additional patients carrying ERBB3 variants which exhibited distinct clinical features with evident intestinal dysmotility (OMIM 243180). The potential connection between these phenotypes remains unknown, and the ERBB3-related phenotype spectrum needs to be better characterized. Here, we described a patient presenting with a multisystemic syndrome including skip segment Hirschsprung disease, bilateral clubfoot deformity, and cardiac defect.

Alterations of gut microbiota in a mouse model with partial small intestinal obstruction.

Introduction: Changes in the gut microbiota of patients with partial small intestinal obstruction (PSIO) have not been widely clarified. We aimed to explore bacterial diversity in a PSIO mouse model.

Methods: A PSIO mouse model was established using male C57BL/6 mice, and feces samples from the distal ileum and ileum epithelium tissues were collected.

Histopathology of Ganglion Cells in the Proximal Resected Bowel Correlates With the Clinical Outcome in Hirschsprung Disease: A Pilot Study.

Introduction: Intraoperative leveling biopsy by identifying ganglion cells is crucial to determine surgical margin during surgery for Hirschsprung disease (HSCR). The anastomosis should be performed at least 5 cm proximal to the ganglionic segment to prevent transition zone pull-through. However, the length of the transition zone could be much longer than expected and the histological evaluation of the entire circumference of the proximal margin is recommended, which is time-consuming and not applicable for leveling biopsy.

Corrigendum: Sacral Curvature in Addition to Sacral Ratio to Assess Sacral Development and the Association With the Type of Anorectal Malformations.

[This corrects the article DOI: 10.3389/fped.2021.

Sacral Curvature in Addition to Sacral Ratio to Assess Sacral Development and the Association With the Type of Anorectal Malformations.

Sacral ratio (SR) is currently the only measurement to quantitatively evaluate sacral development in patients with anorectal malformations (ARM). This study proposes sacral curvature (SC) as a new indicator to qualitatively assess the sacrum and hypothesizes that sacral development, both quantitatively and qualitatively, can be an indicator to predict the type of ARM. The study aims to investigate the difference of SR and SC between ARM types and the association with the type of ARM.

The multidisciplinary management of recurrent tracheoesophageal fistula after esophageal atresia: Experience with 135 cases from a tertiary center.

Background & Aims: Recurrent tracheoesophageal fistula (rTEF) after esophageal atresia requires complex management across different specialties. This study reviews our experience and discusses a multidisciplinary (MDT) approach adopted in the past 4 years.

Methods: We reviewed the medical records of 100 patients with rTEF managed by an MDT approach (post-MDT group) from 2016 to 2019.

Adjuvant steroid treatment following Kasai portoenterostomy and clinical outcomes of biliary atresia patients: an updated meta-analysis.

Background: It is controversial whether adjuvant steroid treatment should be given to biliary atresia (BA) patients following a Kasai portoenterostomy (KPE). This study aimed to quantitatively and systematically evaluate the effect of adjuvant steroid therapy post-KPE in relation to major clinical outcomes of BA patients.

Methods: We systematically reviewed the literature in PubMed, Embase, the Cochrane Library, China Knowledge Resource Integrated Database, Wanfang Database, Scholarly and Academic Information Navigator and manually searched for relevant papers published before August, 2015.

[The swine surgical expermental study of laser-assisted liposuction].

Objective: To evaluate the advantage and disadvantage of laser-assisted liposuction compared with conventional liposuction.

Methods: Ten swines were devided into three groups, the laser liposuction group, conventional liposuction group and control group. We compared the two surgical groups with the following aspects: ecchymosi, edema, lipocrit study, hemoglobin studies and blood biochemical changes, etc.