Level and clinical significance of serum RETN and Beclin-1 in gouty arthritis patients / 国际检验医学杂志

Objective To investigate the expression characteristics of serum resistin(RETN)and Beclin-1 in patients with gouty arthritis(GA),and to analyze the relationship between RETN and GA clinical charac-teristics and clinical efficacy.Methods A total of 82 GA patients(GA group)and 60 healthy volunteers(con-trol group)in Dongguan People's Hospital from January 2019 to December 2022 were enrolled in the study.The expressions of serum RETN and Beclin-1 in GA patients were detected before and after treatment(on the physical examination day of the control group),and the differences of serum RETN and Beclin-1 in GA pa-tients with different clinical characteristics and efficacy were compared.Pearson correlation analysis was used to investigate the correlation between serum RETN,Beclin-1 expression and uric acid(UA)level in GA pa-tients.The diagnostic value of serum RETN and Beclin-1 in GA was analyzed using the receiver operating characteristic(ROC)curve.Results The serum RETN level in the GA group was higher than that in the con-trol group,and the expression of Beclin-1 was lower than that in the control group(P<0.05).The serum RETN levels in GA patients with acute stage,disease duration≥5 years,affected joints≥5,annual attack fre-quency≥3 times were higher than those in GA patients with chronic stage and intermittent stage,disease du-ration<5 years,affected joints<5,annual attack frequency<3 times(P<0.05),and the expression of Bec-lin-1 were lower than those in GA patients in chronic and intermittent stages,disease duration<5 years,af-fected joints<5,annual frequency<3 times(P<0.05).The serum UA level in GA patients was positively correlated with RETN(r=0.674,P<0.05),and negatively correlated with Beclin-1 expression(r=-0.568,P<0.05).After treatment,the serum expression of level RETN in the effective group was lower than that in the ineffective group,while the level Beclin-1 was higher than that in the ineffective group(P<0.05).The ar-ea under the curve of combined RETN and Beclin-1 diagnosis for GA was 0.921,which was higher than that of individual diagnosis(Z=3.752,3.154,P<0.05).Conclusion Serum RETN level increases,and Beclin-1 ex-pression decreases in GA patients,which is associated with increased UA level,prolonged acute stage and course of GA,increased number of affected joints and annual attack frequency,and treatment ineffectiveness.RETN and Beclin-1 could serve as biomarkers for GA diagnosis.

Duration and risk factors of invasive mechanical ventilation after neonatal abdominal surgery under general anesthesia / 中国新生儿科杂志

Objective:To study the duration of invasive mechanical ventilation (MV) and its influencing factors after neonatal abdominal surgery under general anesthesia in neonatal intensive care unit (NICU).Methods:From January 2018 to December 2020, neonates received abdominal surgery under general anesthesia and needed endotracheal intubation and MV after surgery in NICU of our hospital were retrospectively studied. According to MV duration, the neonates were assigned into <72 h group and ≥72 h group. Multivariate logistic regression was used to analyze the risk factors of postoperative MV duration.Results:A total of 113 neonates were enrolled, including 57 male (50.4%) and 56 female (49.6%). The gestational age was (35.7±3.6) weeks, the birth weight was (2 497±933) g, the average operation age was 9.9(3.6, 22.2) d and the average hospital stay was 22.0(12.0,37.0) d. Congenital intestinal obstruction (37/113, 32.7%) was the most common diagnoses on discharge, followed by neonatal necrotizing enterocolitis(28/113,24.8%) and gastrointestinal perforation (18/113,15.0%). The duration of operation was 80.0 (55.8,117.3) min. All neonates needed MV with endotracheal intubation. The duration of postoperative respiratory support was 30.0(7.0,84.5) h. 48 neonates (42.5%) had endotracheal intubation removed within 24 h after surgery. Multivariate logistic regression analysis showed that preoperative respiratory support ( P=0.004), congenital heart disease( P=0.013) and intravenous midazolam ( P=0.032) were independent risk factors for prolonged postoperative MV. Conclusions:The need of preoperative respiratory support, congential heart disease and intravenous midazolam were independent risk factors for the duration of postoperative MV after neonatal abdominal surgery under general anesthesia.

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.

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.

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.

Thoracoscopy for Esophageal Diverticula After Esophageal Atresia With Tracheo-Esophageal Fistula.

Background: Esophageal diverticulum (ED) is an extremely rare complication of congenital esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) surgery. We aimed to investigate feasible methods for the treatment of this rare complication. Methods: We retrospectively reviewed all patients with EA/TEF at Beijing Children's Hospital from January 2015 to September 2019. The clinicopathological features of patients with ED after EA/TEF surgery were recorded. Follow-up was routinely performed after surgery until December 2020. Results: Among 198 patients with EA/TEF, ED only occurred in four patients (2.02%; one male, three female). The four patients had varying complications after the initial operation, including anastomotic leakage (3/4), esophageal stenosis (3/4), and recurrence of TEF (1/4). The main clinical symptoms of ED included recurrent pneumonia (4/4), coughing (4/4), and dysphagia (3/4). All ED cases occurred near the esophageal anastomosis. Patients' age at the time of diverticulum repair was 6.6-16.8 months. All patients underwent thoracoscopic esophageal diverticulectomy (operation time: 1.5-3.5 h). Anastomotic leakage occurred in one patient and spontaneously healed after 2 weeks. The other three patients had no peri-operative complications. All patients were routinely followed up after surgery for 14-36 months. During the follow-up period, all patients could eat orally, had good growth and weight gain, and showed no ED recurrence or anastomotic leakage on esophagogram. Conclusions: ED is a rare complication after EA/TEF surgery and is a clear indication for diverticulectomy. During the midterm follow-up, thoracoscopic esophageal diverticulectomy was safe and effective for ED after EA/TEF surgery.

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.