Objective:To investigate the clinical manifestations and genetic characteristics of a Chinese Han family with Axenfeld-Rieger syndrome (ARS).Methods:A pedigree study was conducted.Three people from a Chinese Han family with ARS who visited Henan Eye Hospital in January 2024 were included, including 1 patient.Clinical data of the proband and her parents were collected.Comprehensive ophthalmic examination and general physical examination were performed on the proband and her parents.Peripheral blood samples were obtained from family members for DNA extraction.Whole exome sequencing was performed on the proband, and the copy number of the ZBED1P1, ENPEP, PITX2, and FAM241A genes in family members were validated using the real-time fluorescent quantitative PCR.Axenfeld-Rieger syndrome, Axenfeld-Rieger Syndrome, and PITX2 were used as keywords to search across databases such as OMIM, ClinVar, PubMed, CNKI, Wanfang, VIP, DECIPHER, and Google Scholar.The clinical manifestations and microdeletion types of different patients in ARS literature related to PITX2 microdeletions in China population were summarized, and the relationship between genotype and clinical phenotype was analyzed.The study followed the Declaration of Helsinki, and the study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEEC-2024[34]).All subjects understood the purpose of the study and voluntarily signed the informed consent form. Results:The proband was a 25-year-old female, exhibiting diminutive cornea in both eyes, polycoria, deformation and displacement of pupils, a flat mid-face, maxillary dysplasia, tooth loss, and a protruding umbilicus, among other symptoms.Parents of the proband were phenotypically normal.DNA sequencing identified a 1.06 MB microdeletion on chromosome 4q25 in the proband.Real-time quantitative PCR confirmed that this microdeletion encompassed the PITX2 and ENPEP genes, and it was absent in the proband's parents.The ClinGen CNV pathogenicity scoring indicated that the deletion involving the PITX2 gene represented a novel pathogenic copy number variation (CNV).Five studies related to 4q25 microdeletion in Chinese families with Axenfeld-Rieger syndrome was screened, including 13 patients.Clinical manefestations of the 13 patients included corneal disorders (accounting for 100%), umbilical hernia and dental anomalies (accounting for 92%), irregular intraocular pressure (accounting for 62%), iris atrophy (accounting for 46%), and posterior corneal embryotoxon (accounting for 31%). Conclusions:For this Chinese family diagnosed with ARS, a novel pathogenic 4q25 microdeletion variant encompassing the PITX2 gene was found in the proband, which is associated with characteristic phenotypes including microcornea, congenital iris dysplasia, polycoria, tooth loss, and a protruding umbilicus.

Objective:To investigate the clinical manifestations and genetic characteristics of a Chinese Han family with Axenfeld-Rieger syndrome (ARS).Methods:A pedigree study was conducted.Three people from a Chinese Han family with ARS who visited Henan Eye Hospital in January 2024 were included, including 1 patient.Clinical data of the proband and her parents were collected.Comprehensive ophthalmic examination and general physical examination were performed on the proband and her parents.Peripheral blood samples were obtained from family members for DNA extraction.Whole exome sequencing was performed on the proband, and the copy number of the ZBED1P1, ENPEP, PITX2, and FAM241A genes in family members were validated using the real-time fluorescent quantitative PCR.Axenfeld-Rieger syndrome, Axenfeld-Rieger Syndrome, and PITX2 were used as keywords to search across databases such as OMIM, ClinVar, PubMed, CNKI, Wanfang, VIP, DECIPHER, and Google Scholar.The clinical manifestations and microdeletion types of different patients in ARS literature related to PITX2 microdeletions in China population were summarized, and the relationship between genotype and clinical phenotype was analyzed.The study followed the Declaration of Helsinki, and the study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEEC-2024[34]).All subjects understood the purpose of the study and voluntarily signed the informed consent form. Results:The proband was a 25-year-old female, exhibiting diminutive cornea in both eyes, polycoria, deformation and displacement of pupils, a flat mid-face, maxillary dysplasia, tooth loss, and a protruding umbilicus, among other symptoms.Parents of the proband were phenotypically normal.DNA sequencing identified a 1.06 MB microdeletion on chromosome 4q25 in the proband.Real-time quantitative PCR confirmed that this microdeletion encompassed the PITX2 and ENPEP genes, and it was absent in the proband's parents.The ClinGen CNV pathogenicity scoring indicated that the deletion involving the PITX2 gene represented a novel pathogenic copy number variation (CNV).Five studies related to 4q25 microdeletion in Chinese families with Axenfeld-Rieger syndrome was screened, including 13 patients.Clinical manefestations of the 13 patients included corneal disorders (accounting for 100%), umbilical hernia and dental anomalies (accounting for 92%), irregular intraocular pressure (accounting for 62%), iris atrophy (accounting for 46%), and posterior corneal embryotoxon (accounting for 31%). Conclusions:For this Chinese family diagnosed with ARS, a novel pathogenic 4q25 microdeletion variant encompassing the PITX2 gene was found in the proband, which is associated with characteristic phenotypes including microcornea, congenital iris dysplasia, polycoria, tooth loss, and a protruding umbilicus.

Objective To analyze the related factors of recurrent readmission in patients with hypertriglyceridemic acute pancreatitis(HTG-AP)in the short term,and to construct and verify the risk early warning model.Methods A total of 176 patients with HTG-AP admitted from January to November 2023 were selected as the research objects.According to whether they were readmitted and recurred in the short term,they were divided into recurrent readmission group(n=53)and non-recurrent readmission group(n=123).Univariate and multivariate Logistic regression were used to construct the risk prediction model.A total of 53 HTG-AP patients admitted from December 2023 to April 2024 were selected for external validation of the model.Results The probability of recurrence and readmission in 176 patients with HTG-AP in the short term was 30.11％.According to univariate and Logistic multivariate analysis,the results showed acute physiology and chronic health evaluation Ⅱ score ≥ 8 points,Ranson score ≥ 3 points,neutrophil to lymphocyte ratio,serum amylase and lactic dehydrogenase were independent risk factors for recurrence and readmission in HTG-AP patients in the short term,while Ca2+was the protective factor(P＜0.05).According to the H-L goodness of fit test results of 176 patients with HTG-AP,x2=5.212,P=0.735;Area under the curve(AUC)was 0.877(P＜0.001,95％CI:0.824-0.931),the sensitivity was 86.80％,the specificity was 73.20％,and the maximum Youden index was 0.600.According to the H-L goodness of fit test results of 53 patients with HTG-AP,x2=3.391,P=0.907;AUC was 0.881(P＜0.001,95％CI:0.791-0.971),the sensitivity was 78.10％,the specificity was 81.00％,and the maximum Youden index was 0.591.The results showed that the model had good goodness of fit and good predictive efficacy in predicting the short-term recurrence of HTG-AP patients.Conclusion The short-term recurrence and readmission of HTG-AP patients are affected by multiple factors,and the risk prediction model has good consistency and discrimination.

Objective To analyze the related factors of recurrent readmission in patients with hypertriglyceridemic acute pancreatitis(HTG-AP)in the short term,and to construct and verify the risk early warning model.Methods A total of 176 patients with HTG-AP admitted from January to November 2023 were selected as the research objects.According to whether they were readmitted and recurred in the short term,they were divided into recurrent readmission group(n=53)and non-recurrent readmission group(n=123).Univariate and multivariate Logistic regression were used to construct the risk prediction model.A total of 53 HTG-AP patients admitted from December 2023 to April 2024 were selected for external validation of the model.Results The probability of recurrence and readmission in 176 patients with HTG-AP in the short term was 30.11％.According to univariate and Logistic multivariate analysis,the results showed acute physiology and chronic health evaluation Ⅱ score ≥ 8 points,Ranson score ≥ 3 points,neutrophil to lymphocyte ratio,serum amylase and lactic dehydrogenase were independent risk factors for recurrence and readmission in HTG-AP patients in the short term,while Ca2+was the protective factor(P＜0.05).According to the H-L goodness of fit test results of 176 patients with HTG-AP,x2=5.212,P=0.735;Area under the curve(AUC)was 0.877(P＜0.001,95％CI:0.824-0.931),the sensitivity was 86.80％,the specificity was 73.20％,and the maximum Youden index was 0.600.According to the H-L goodness of fit test results of 53 patients with HTG-AP,x2=3.391,P=0.907;AUC was 0.881(P＜0.001,95％CI:0.791-0.971),the sensitivity was 78.10％,the specificity was 81.00％,and the maximum Youden index was 0.591.The results showed that the model had good goodness of fit and good predictive efficacy in predicting the short-term recurrence of HTG-AP patients.Conclusion The short-term recurrence and readmission of HTG-AP patients are affected by multiple factors,and the risk prediction model has good consistency and discrimination.

Objective To study the plasma TNF-α and endothelin (ET) levels in patient with subarach-noid hemorrhage(SAH). Methods The plasma TNF-α and ET levels were measured by ELISA and radioimmunity at 1,3,7,14 and 21 d after onset of SAH in 45 patients. Results The plasma TNF-α and ET levels in patients with SAH were higher than the normal controls(P<0.01),among which the highest levels appeared at 3 d and 7 d,and the levels of plasma TNF-α and ET in patients with SAH were decreased at 14 d. Those of high Hunt-Hess grade～groups was higher than those of lower grade～groups(P<0.01). Conclusion The plasma TNF-α and ET levels are significantly elevated in the patients with SAH,which suggests that TNF-α and ET may play an important role in the pathogenesis of SAH,and which suggests that is one of the possible ways to prevent and treat cardiovascular spasm (CVS) after SAH by inhibiting TNF-α and ET.