TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Congenital tracheal stenosis is a rare life-threatening disorder caused by narrow O-shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T>C, p.(Ile227Thr)). The Ile227Thr-TBX5 protein was predicted to have a decreased stability by in silico protein structural analyses, and was shown to have a significantly reduced activity for the NPPA promoter by luciferase assay. The results, together with the expression of mouse Tbx5 in the lung and trachea and the development of tracheal cartilage dysplasia in the lung-specific Tbx5 null mice, imply the relevance of TBX5 pathogenic variants to congenital tracheal stenosis.

Safety evaluation of a stepwise tracheostomy decannulation program in pediatric patients.

PURPOSE: In the event of failed tracheostomy decannulation, patients might have a tragic course of events. We retrospectively evaluated our stepwise tracheostomy decannulation program and examined its safety. METHODS: A 12-year retrospective study of pediatric patients was conducted. The decannulation program was performed on patients who had airway patency by laryngobronchoscopy and whose cannula could be capped during the day. A stepwise decannulation program was performed: continuous 48-h capping trial during hospitalization (Phase 1), removal of the tracheostomy tube for 48 h during hospitalization (Phase 2), and outpatient observation (Phase 3). If a persistent tracheocutaneous fistula existed, the fistula was closed by surgery (Phase 4). RESULTS: The 77 patients in the study underwent 86 trials. The age at the first time of the decannulation program was 6.5 ± 3.6 years. Sixteen trials failed (18.6%): 8 trials in Phase 1, 2 trials in Phase 2, 4 trials in Phase 3, and 2 trials in Phase 4. Most decannulation failures were due to desaturation in Phase 1/2 and dyspnea in Phase 3/4. The time to reintubation after decannulation was 15-383 days in Phase 3/4. CONCLUSIONS: Patients could fail at every phase of the program, suggesting that a stepwise decannulation program contributes to safety.

Gastric tumor mimicking bronchial tissue associated with a laryngotracheoesophageal cleft: a case report.

BACKGROUND: Laryngotracheoesophageal cleft (LTEC) is a rare disease in which the larynx and trachea communicate posteriorly to the esophagus. It is often associated with other congenital malformations, particularly gastrointestinal anomalies. Herein, we report a case of LTEC associated with a gastric polypoid lesion in bronchial tissue. CASE PRESENTATION: A gastric mass was detected in a male fetus since week 21 of gestation using fetal ultrasonography. Esophagogastroduodenoscopy performed after birth revealed a pedunculated polypoid lesion of the gastric fornix. The patient experienced frequent vomiting and aspiration pneumonia, which persisted after nasoduodenal tube feeding. Communication between the airway and esophagus was suspected. Laryngoscopy performed 30 days later revealed an LTEC (type III). Partial gastrectomy was performed when the patient was 93 days of age. Histopathological examination revealed tumor consisting of cartilage tissue covered with a layer of respiratory epithelium. CONCLUSION: The gastric tumor associated with LTEC exhibited structures mimicking bronchial tissue. LTEC occurs because of foregut maldevelopment, and the tumorous respiratory tissue in the stomach may have been formed from the same abnormal foregut development event as LTEC.

The comorbidities of recurrent inguinal hernia in children: A systematic review.

BACKGROUND: Higher risk of recurrence has been reported in pediatric inguinal hernia patients with specific comorbidities. The purpose of this systematic review was to investigate which comorbidities predispose to recurrent pediatric inguinal hernias (RPIHs). METHODS: A comprehensive search of six databases was performed, reviewing the literature to date on RPIHs and the co-occurrence of comorbidities. English-language publications were considered for inclusion. The primary surgical technique (e.g., Potts procedure or laparoscopic repair) was not considered. RESULTS: Fourteen articles published between 1967 and 2021 fulfilled the inclusion criteria and did not meet the exclusion criteria. They reported a total of 86 patients diagnosed with RPIHs with 99 comorbidities. Thirty-six percent of patients had conditions with increased intra-abdominal pressure, such as ventriculoperitoneal shunt for hydrocephalus, posterior urethral valves, bladder exstrophy, seizure disorder, asthma, using continuous positive airway pressure for respiratory distress syndrome, and gastroesophageal reflux disease. Twenty-eight percent of patients had diseases with weakness of the anterior abdominal wall, specifically mucopolysaccharidosis, giant omphalocele, Ehlers-Danlos syndrome, connective-tissue disorders, and segmental spinal dysgenesis. CONCLUSIONS: The main comorbidities of RPIHs were conditions with increased intra-abdominal pressure and weakness of the anterior abdominal wall. Although these comorbidities are rare, the risk of recurrence must be noted.

Oncologic safety of Carrel patch hepaticojejunostomy for treating cystic-type choledochal cyst in children based on 20-plus years follow-up.

AIM: During choledochal cyst (CC) excision, the hepaticojejunostomy anastomosis (HJA) can be performed conventionally (CHJA) or with a Carrel patch (CPA). CPA can increase CHD diameter to 10-13 mm, preventing anastomotic stenosis and intrahepatic bile duct (IHBD) stones but may be at risk for malignant transformation. METHODS: The medical records of 83 cystic-type CC with CHD ≤ 9 mm followed up for at least 20 years were reviewed retrospectively. Available excised CC specimens (70/83) were re-examined blindly for pre-malignant changes. A questionnaire about suturing narrow lumens was conducted. RESULTS: All 83 had pancreaticobiliary maljunction. Group data were similar. Anastomoses were CPA (n = 43) and CHJA (n = 40). Mean diameter for CPA was 11.4 mm (range: 10-13 mm); for CHJA was 7.4 mm (range: 5-9 mm). Mean follow-up was 27.7 years (range: 20-42). Postoperative anastomotic stenoses were less after CPA: 1/43 (2.3%) versus 5/40 (12.5%) (p = 0.10), but CHJA had significantly more postoperative IHBD stones: 0% versus 4/40 (10.0%) (p < 0.05). All IHBD stone patients had anastomotic stenosis. Excised specimens showed no pre-malignant cytology. Lumen diameter ≤ 9 mm was considered challenging by 10/10 surgical trainees and ≤ 7 mm by 16/22 pediatric surgeons. CONCLUSIONS: CPA appears to be oncologically safe because of the absence of malignant transformation for at least 20 years.

Quality of life after type-A esophageal atresia surgery: changes over time and effect of pre-anastomotic elongation.

AIM: To assess mid-/long-term postoperative quality of life (QOL) of esophageal atresia (EA) patients. METHODS: Modified gastrointestinal quality-of-life index surveys were administered to postoperative EA patients who were at least 7 years old at evaluation to assess three topics about general lifestyle (GL), five topics about EA, and four topics about mental health (MH). For MH, caregivers were also interviewed, but separately. Subjects were divided according to age: children (7-12 years old), teenagers (13-19), and adults (20 and over) and compared according to Foker or Kimura elongation (FK) or bougienage stretching (BS). RESULTS: There were 22 patients evaluated. Responses for GL, EA, and MH did not differ significantly between age groups, but MH responses by caregivers for subjects who were children or teenagers scored significantly lower than responses they made themselves. For primary esophageal elongation technique (PET), age at esophagoesophagostomy was significantly higher in FK. Despite FK scoring 15.1 versus 12.4 for BS during EA evaluation, this difference was not statistically significant. CONCLUSION: Changes in QOL responses according to age were unremarkable. However, discrepancies in MH indicate that subjects felt better than their caregivers thought. PET did not appear to influence QOL.

Changes in postoperative quality of life of pediatric total colonic aganglionosis patients: effect of pull-through technique.

AIM: To assess mid-/long-term quality of life (QOL) of total colonic aganglionosis (TCA) patients. METHODS: Modified pre-existing QOL assessment tools for general lifestyle (GL), bowel function (BF), and mental health (MH) were administered to postoperative TCA patients from five institutions, who were at least 7 years old to compare Duhamel (with pouch) and Swenson/Soave (without pouch) techniques between children (Ch 7-12 years old), teenagers (Tn 13-19), and adults (Ad 20 and over). For MH, caregivers were also interviewed, but separately. Maximum scores were 12 for GL/MH and 18 for BF. RESULTS: There were 32 subjects. GL and BF scores increased significantly from Ch (GL 4.8 ± 2.5, BF: 11.3 ± 4.6) to Tn (GL 7.8 ± 2.6, BF 16.2 ± 3.0); scores for MH did not change significantly. Mean caregiver MH scores were significantly lower than mean subject MH scores for all age groups (subject scores: 10.1, 10.7, 10.7 versus caregiver scores: 6.8, 7.8, 8.1 for Ch, Tn, Ad, respectively). PT technique/presence of a pouch did not influence the incidence of enterocolitis or QOL scores. CONCLUSION: MH responses showed subjects felt better than caregivers believed. This discrepancy could cause conflict despite steadily improving GL/BF. QOL was unaffected by PT technique/presence of a pouch.

Pancreaticobiliary maljunction without biliary dilatation in pediatric patients.

PURPOSE: Pancreaticobiliary maljunction (PBM) without biliary dilatation is a condition in which dilatation of the bile duct is not seen in patients with PBM. Recently, the Japanese Study Group on Pancreaticobiliary Maljunction (JSGPM) published new diagnostic criteria for PBM. In these criteria, biliary dilatation is defined according to the standard diameter at each age. We reviewed cases of pediatric patients with PBM without biliary dilatation. METHODS: From 1992 to 2019, 134 patients with PBM were treated in our institution. Among these, 7 patients were retrospectively diagnosed with PBM without biliary dilatation. The clinical information was retrospectively assessed in these patients. RESULTS: Of the seven patients, six were female. All patients had symptoms similar to those of patients with congenital biliary dilatation. In all seven patients, the diagnosis of PBM was made before definitive surgery. Six patients had type B PBM, and one had type D PBM. All patients underwent extrahepatic bile duct resection and hepaticojejunostomy, and their symptoms resolved. One patient experienced postoperative complications of anastomotic leakage followed by anastomotic stricture. CONCLUSION: The present report revealed important clinical features of this entity. However, there are still some issues that need to be discussed, and further research is needed.

Tracheoplasty for Congenital Tracheal Stenosis with Bilateral Tracheal Bronchus.

INTRODUCTION: Congenital tracheal stenosis (CTS) with a bilateral tracheal bronchus (TB) has not been reported as a subtype of CTS. A novel technique to manage CTS in patients with a bilateral TB is described. CASE REPORT: An infant with tetralogy of Fallot underwent repair of cardiac anomaly at age 1 month. He experienced numerous cyanosis and episodes of transient respiratory arrest. Chest computed tomography (CT) demonstrated an aberrant bilateral upper lobe bronchus arising directly from the trachea and a stenotic trachea connecting the pseudo- carina to the true carina between the common right lower and left lower bronchus. On bronchoscopy, the diameter of the lumen of the narrowed segment was estimated to be less than 2 mm. Tracheal reconstruction was undertaken when he was 2 years of age. The surgical technique using a modified slide tracheoplasty for the correction of this anomaly are described. After surgery, the patient was extubated and has had no respiratory symptoms. DISCUSSION AND CONCLUSION: The patient had unique anatomic considerations that made reconstruction challenging. Our technique of covering a stenotic section by normal trachea is a modification of the slide tracheoplasty technique and is useful for CTS with a unilateral and a bilateral TB.

Subtle Crucial X-Ray Findings in Pediatric Foreign Body Aspiration.

Foreign body aspiration (FBA), with potentially life-threatening outcomes, is not unusual in the pediatric population. We report two cases of lobar bronchial radiolucent foreign bodies. Chest X-ray (CXR) showed a slight but significant finding of lobar emphysema without a significant mediastinal shift. This is possibly a key to suspecting foreign bodies. In the clinical field, a stepwise approach to detecting foreign bodies is commonly performed, from less invasive options such as CXR to computed tomography (CT). In this context, clinicians should scrupulously check CXRs when pediatric patients complain of respiratory symptoms, especially with potential FBA history.

Obstructive Fecalomas in an Infant Treated with Successful Endoscopic Disimpaction.

A fecaloma is a mass of accumulated feces with a consistency much harder than that of a fecal impaction. It is most frequently observed in the rectum and sigmoid area, and associated complications include colonic obstruction, ulceration, bleeding, and perforation. A one-year-old, previously healthy boy with no history of chronic constipation was admitted because of vomiting and abdominal distension. An abdominal computed tomography scan showed small and large bowel distension due to multiple obstructive fecalomas in the transverse colon. As the fecalomas could not be resolved by laxatives, enemas, or colonic lavage, endoscopic disimpaction under general anesthesia was attempted. Repeatedly shaving the fecalomas with biopsy forceps finally resulted in gradual fragmentation with subsequent passage. Gastrointestinal food allergy was later suggested as the cause because eosinophilic infiltration was found in a biopsy specimen of the colon wall. Endoscopic disimpaction is an effective treatment approach for addressing fecalomas to avoid more invasive surgical intervention.

Risk factors of dumping syndrome after fundoplication for gastroesophageal reflux in children.

PURPOSE: In postoperative cases of fundoplication, the gastric emptying ability is promoted and sometimes exhibits dumping syndrome. Dumping syndrome often goes unrecognized in children. Furthermore, the risk factors for postoperative dumping syndrome are unknown. This study aimed to investigate the risk factors of developing dumping syndrome after fundoplication. METHODS: A retrospective chart review of all consecutive patients between January 2003 and March 2018 (190 patients) who had fundoplication at our clinic was conducted. Regarding the risk factors of dumping syndrome, gender, age and body weight at the time of surgery, neurological impairment, severe scoliosis, microgastria, chromosomal abnormalities, complex cardiac anomalies, gastrostomy, and laparoscopic surgery were retrospectively studied. RESULTS: 17 patients (9%) developed dumping syndrome post-operatively. Multivariate analysis showed that significant risk factors for dumping syndrome included: undergoing surgery within 12 months of age (adjusted OR 10.3, 95% CI 2.6-45.2), severe scoliosis (adjusted OR 19.3, 95% CI 4.4-91.1), and microgastria (adjusted OR 26.5, 95% CI 1.4-896.4). CONCLUSIONS: We identified that: age at fundoplication being within 12 months of age, severe scoliosis, and microgastria were risk factors for dumping syndrome after fundoplication, and that this information should be explaining to the family before conducting the fundoplication.