Research progress in diagnosis and treatment of long-term complications in patients with congenital esophageal atresia / 中华实用儿科临床杂志

Congenital esophageal atresia with or without tracheoesophageal fistula is a relatively common and serious congenital gastrointestinal anomaly, which can be surgically repaired to achieve long-term survival in the majority of patients.However, various consequent long-term complications would affect the physical and mental health of patients, thus inducing a decline in their quality of life.In this study, the present status and advances of diagnosis and treatment of these complications were reviewed, in an attempt to further explore the long-term complications after congenital esophageal atresia.

Advances in diagnosis and treatment of H-type tracheoesophageal fistula / 中华实用儿科临床杂志

Congenital H-type tracheoesophageal fistula (H-TEF) is a rare type of esophageal atresia.With the continuous development of ultrasound and magnetic resonance imaging (MRI) in the field of prenatal diagnosis in recent years, thoracoscopic surgery and endoscopic treatment, which are more minimally invasive than traditional open surgery, have also been carried out.Based on previous research reports, the diagnosis and treatment of congenital H-TEF was reviewed in this paper.

Mowat-Wilson syndrome with Hirschsprung′s disease and vaginal atresia: case report and literature review / 中华实用儿科临床杂志

Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.

Preliminary research on gene mutation in 10 children patients with esophageal atresia / 国际检验医学杂志

Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .

Application of electronic bronchoscopy in diagnosis of recurrent tracheoesophageal fistula of type Ⅲ esophageal atresia / 中国内镜杂志

Objective To investigate the application of electronic bronchoscopy in diagnosis of recurrent tracheoe-sophageal fistula of type Ⅲ esophageal atresia. Methods 5 patients were reviewed who were suspected postopera-tive tracheoesophageal fistula recurrence of type Ⅲ esophageal atresia and examined through electronic bron-choscopy combined with injecting Methylene blue into stomach tube from Jan 2010 to Aug 2014. Male to female ra-tio was 4:1. The age was 2~15 months, median age was 7.4 months. Results The 5 cases were found trachea mem-brane fistula by electronic bronchoscope, recurrent tracheoesophageal fistula was diagnosed with Methylene blue in-jected into stomach tube and overflowed from trachea membrane fistula. Examination time is 3~7 minutes, the aver-age is 4.2 minutes. The 5 cases were confirmed by operation. Conclusion Electronic bronchoscopy combined with injecting Methylene blue into stomach tube to diagnose recurrent tracheoesophageal fistula is safe and feasible, the time is short and the diagnosis rate is high.