Objective:To analyze the factors associated with the occurrence of dysphagia after endoscopic submucosal dissection(ESD) treatment in patients with early esophageal cancer or precancerous lesions, and to explore their clinical predictive value.Methods:From March 1, 2020 to March 31, 2021, 35 patients diagnosed with early esophageal cancer or precancerous lesions without dysphagia before ESD treatment were recruited. All the patients were followed up for 2 years after ESD, and were divided into the non-dysphagia group (22 cases) and dysphagia group (13 cases) according to the occurrence of postoperative dysphagia. The demographic characteristics(such as gender and age), ESD-related data (such as the range of circumferential resection), the parameters of high resolution esophageal manometry such as distal contraction integral(DCI), the amplitude of peristaltic waves in various esophageal segments, and the psychological states such as self-rating anxiety scale (SAS) scores of the 2 groups were analyzed. Multivariate logistic regression was used to analyze the independent influencing factors for the occurrence of dysphagia after ESD and receiver operating characteristic curve (ROC) of the independent risk factors was plotted to assess the diagnostic efficacy.Results:The result of multivariate logistic regression analysis showed that the range of circumferential resection ( OR=23.881, 95% confidence interval (95% CI) 4.073 to 140.022), the SAS score ( OR=1.157, 95% CI 1.029 to 1.300), the mean value of DCI ( OR=0.864, 95% CI 0.750 to 0.995) and the maximum value of DCI ( OR=0.914, 95% CI 0.837 to 0.998) were independent influencing factors for postoperative dysphagia (all P<0.05).The result of ROC analysis showed that the area under the curve for the range of circumferential resection predicting dysphagia after ESD was 0.895 (95% CI 0.788 to 0.987, P<0.001), with an optimal cut-off value of 72.50, and the area under the curve for SAS score was 0.811 (95% CI 0.660 to 0.962, P=0.001), with an optimal cut-off value of 34.38. Conclusions:Reduced distal esophageal pressure, and(or) contractile weakness may contribute to dysphagia after ESD. Postoperative dysphagia risk increases when the range of circumferential esophageal resection exceeds 72.5% of the lumen circumference or the SAS score is over 34.

Objective:To analyze the factors associated with the occurrence of dysphagia after endoscopic submucosal dissection(ESD) treatment in patients with early esophageal cancer or precancerous lesions, and to explore their clinical predictive value.Methods:From March 1, 2020 to March 31, 2021, 35 patients diagnosed with early esophageal cancer or precancerous lesions without dysphagia before ESD treatment were recruited. All the patients were followed up for 2 years after ESD, and were divided into the non-dysphagia group (22 cases) and dysphagia group (13 cases) according to the occurrence of postoperative dysphagia. The demographic characteristics(such as gender and age), ESD-related data (such as the range of circumferential resection), the parameters of high resolution esophageal manometry such as distal contraction integral(DCI), the amplitude of peristaltic waves in various esophageal segments, and the psychological states such as self-rating anxiety scale (SAS) scores of the 2 groups were analyzed. Multivariate logistic regression was used to analyze the independent influencing factors for the occurrence of dysphagia after ESD and receiver operating characteristic curve (ROC) of the independent risk factors was plotted to assess the diagnostic efficacy.Results:The result of multivariate logistic regression analysis showed that the range of circumferential resection ( OR=23.881, 95% confidence interval (95% CI) 4.073 to 140.022), the SAS score ( OR=1.157, 95% CI 1.029 to 1.300), the mean value of DCI ( OR=0.864, 95% CI 0.750 to 0.995) and the maximum value of DCI ( OR=0.914, 95% CI 0.837 to 0.998) were independent influencing factors for postoperative dysphagia (all P<0.05).The result of ROC analysis showed that the area under the curve for the range of circumferential resection predicting dysphagia after ESD was 0.895 (95% CI 0.788 to 0.987, P<0.001), with an optimal cut-off value of 72.50, and the area under the curve for SAS score was 0.811 (95% CI 0.660 to 0.962, P=0.001), with an optimal cut-off value of 34.38. Conclusions:Reduced distal esophageal pressure, and(or) contractile weakness may contribute to dysphagia after ESD. Postoperative dysphagia risk increases when the range of circumferential esophageal resection exceeds 72.5% of the lumen circumference or the SAS score is over 34.

OBJECTIVE: To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS). METHODS: History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing. RESULTS: Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent. CONCLUSION The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.
Cell Cycle Proteins/genetics* ; DNA Mutational Analysis ; De Lange Syndrome/pathology* ; Female ; Fetus ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype. METHODS: Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant. CONCLUSION The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.

OBJECTIVE: To explore the genetic basis for fetus with short limbs detected by prenatal ultrasonography. METHODS: Results of clinical imaging of the fetus was collected. Amniotic fluid sample was collected through amniocentesis for the extraction of fetal DNA. Whole exome sequencing was carried out to detect variants related to the clinical phenotypes. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasound showed that the fetus had short limbs but no other abnormality. Whole exome sequencing has identified that the fetus carried two heterozygous pathogenic variants c.484G>T and c.1436dupA of the SLC26A2 gene, for which its mother and father were heterozygous carriers, respectively. CONCLUSION The fetus was diagnosed with atelosteogenesis type 2 by combined prenatal ultrasonography and whole exome sequencing, which may be attributed to the compound heterozygous variants of the SLC26A2 gene. Above findings provided evidence for the diagnosis of the fetus and genetic counseling.