1.Standardization Challenges in Outcome Evaluation Systems of Animal Experiments and Considerations for Core Outcome Set Construction Strategies
Qingyong ZHENG ; Yongjia ZHOU ; Tengfei LI ; Jianguo XU ; Chen TIAN ; Hui LIU ; Min TIAN ; Ziyu ZHOU ; Caihua XU ; Yating CUI ; Junfei WANG ; Jinhui TIAN
Laboratory Animal and Comparative Medicine 2026;46(1):138-148
Animal experimentation constitutes a critical link between basic research and clinical application, making its research quality and translational efficiency paramount. Although considerable progress has been made in standardizing operational procedures and ethical guidelines, the standardization of outcome evaluation systems has significantly lagged, creating a key bottleneck that constrains the quality of biomedical research and evidence synthesis. This deficiency is manifested by pronounced heterogeneity in outcome selection across similar studies, incomplete methodological reporting, and disparate criteria for result interpretation, which severely impairs the comparability of findings and the evidence integration. To cope with this challenge, this paper systematically introduces a mature methodological tool from clinical research–the core outcome set (COS)–and explores its construction strategies and application potential in the field of animal experimentation. Given the extensive diversity of animal experiments, a pragmatic strategy of "focusing on key areas, implementing phased pilots, and promoting gradual expansion" should be adopted. This approach prioritizes the development of domain-specific COS for disease areas characterized by high research volume, urgent translational needs, and well-established animal models. A multi-source integration pathway for COS development is detailed, comprising systematic literature searches, methodological appraisals, and expert consensus, with the feasibility of leveraging artificial intelligence (AI) to enhance efficiency also being examined. The development and promotion of such COS are not intended to restrict scientific exploration; rather, they aim to establish a new, tiered evaluation paradigm consisting of "core outcomes" (mandatory), "recommended outcomes" (encouraged), and "exploratory outcomes" (optional). This framework is expected not only to enhance research quality through standardization and to adhere to the "3R" principles but also to accelerate the accumulation of high-quality evidence. This, in turn, provides a solid foundation for higher-level evidence synthesis, ultimately facilitating the effective translation of basic research findings into clinical practice and providing an essential methodological framework for scientific advancement in relevant disciplines.
2.Efficacy analysis of robotic versus laparoscopic-assisted right hemicolectomy
Bang LIU ; Peiyao WANG ; Zhaoxiong ZHANG ; Daohan WANG ; Wenxin ZHANG ; Pengyu CHEN ; Hengbin ZHAO ; Yongjia YAN ; Weihua FU
Chinese Journal of Digestive Surgery 2025;24(4):521-527
Objective:To investigate the short-term efficacy of robotic versus laparoscopic-assisted right hemicolectomy.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopathological data of 99 patients of right colon cancer who were admitted to Tianjin Medical University General Hospital from January 2020 to December 2023 were collected. There were 50 males and 49 females, aged 69(range, 26?89)years. Of the 99 patients, 41 patients undergoing robotic-assisted right hemicolectomy were divided into the robotic group, and 58 patients undergoing laparoscopic-assisted right hemicolectomy were divided into the lapa-roscopic group. Patients received robotic-assisted or laparoscopic-assisted right hemicolectomy operated by the same major surgeon. Observation indicators:(1) propensity score matching status and com-parison of clinical data of patients between the two groups after matching; (2) intraoperative and postoperative conditions.Comparison of measurement data with normal distribution between groups was conducted using the independent sample t test. Comparison of measurement data with skewed distribution between groups was conducted using the Mann-Whitney U test. Comparison of count data between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data was conducted using the nonparametic rank sum test. Propensity score matching was performed using the 1∶1 nearest neighbor matching method. The caliper value was set as 0.1. Results:(1) Propensity score matching status and comparison of clinical data of patients between the two groups after matching. Of the 99 patients, 82 patients were successfully matched, with 41 cases in each of the robotic group and the laparoscopic group. After propensity score matching, the elimination of history of abdominal operation confounding bias ensured comparability. (2) Intraoperative and postoperative conditions. After propensity score matching, the operation time of the robotic group was 215(range, 130?340)minutes, the volume of intraoperative blood loss was 50(range, 10?400)mL, the number of lymph node dissected was 21(range, 5?55), the number of intensive care unit stay was 15, time to postoperative first flatus was 3(range, 1?12)days, time to postoperative first food intake was 4(range, 2?14)days, duration of postoperative hospital stay was 8(range, 5?25)days. The above indicators of the laparoscopic group were 210(range, 140?370)minutes, 50(range, 5?150)mL, 19(range, 5?34),20, 3(range, 0?9)days, 5(range, 2?10)days, 8(range, 6?17)days, respectively. There was no significant difference in the above indicators between patients of the two groups ( Z=?0.94, ?1.87, ?1.32, χ2=1.25, Z=0.13, ?0.83, ?0.65, P>0.05). There was no patient converted to open operation in the robotic group, versus 1 patient converted to open operation in the laparoscopic group, showing no significant difference between patients of the two groups ( P>0.05). There were 6 cases in the robotic group and 4 cases in the laparoscopic group with complications, showing no significant difference between the two groups ( χ2=0.46, P>0.05). Both groups of patients achieved R 0 resection and had no readmission 30 days after surgery. The hospital expense was (11.0±1.8)×10 4 yuan of the robotic group, versus (9.0±1.7)×10 4 yuan of the laparoscopic group, showing a significant difference between the two groups ( t=?5.27, P<0.05). Conclusion:Robot-assisted right hemicolectomy is non inferior to laparoscopic-assisted right hemicolectomy in safety and efficacy, but with higher hospitalization costs.
3.Development and validation of a predictive model for postoperative blood pressure outcomes in primary aldosteronism based on CYP11B2 gene polymorphism
Qiangfeng FU ; Yongjia CHEN ; Shengtao ZENG ; Haoxiang XU ; Chenglin YANG ; Yue YANG ; Zhi CAO ; Wei WANG
Chinese Journal of Urology 2025;46(7):529-536
Objective:To construct and validate a clinical model combining CYP11B2 gene polymorphisms with clinical parameters to predict complete postoperative hypertension remission in primary aldosteronism patients.Methods:The clinical data of a total of 116 patients with primary aldosteronism who underwent unilateral adrenalectomy from April 2018 to August 2024 were retrospectively included. There were 63 males and 53 females,with a body mass index(BMI)of(25.50 ± 2.03)kg/m 2. Genomic DNA was extracted from venous blood leukocytes before surgery,and polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP)were used to detect CYP11B2(rs1799998)promoter region 344(C > T)base substitution. The follow-up duration was more than 6 months,with the following parameters recorded at the last follow-up:plasma aldosterone,renin,serum potassium,and sodium levels. Blood pressure progression and antihypertensive medication usage were also assessed. The postoperative outcome was determined according to the Primary Aldosteronism Surgical Outcome score(PASO)for primary aldosteronism,and the specific criteria were as follows. ① Clinical complete remission:the patient's blood pressure returned to normal(< 140/90 mmHg,1 mmHg = 0.133 kPa)and all antihypertensive drugs were discontinued;②Partial clinical remission:blood pressure returns to normal,and the number or dose of antihypertensive drugs is reduced compared with before;③Clinical non-remission:blood pressure does not drop and antihypertensive drugs do not change or increase compared with before surgery. Patients were divided into complete and incomplete remission groups. The chi-square test was used for univariate analysis,followed by binary logistic forward conditional regression for multivariate analysis,and a variety of machine learning algorithms such as random forest,logistic regression,support vector machine and gradient lifter were integrated,and the results of multivariate analysis were included to construct a postoperative blood pressure outcome model,and the predictive performance of the model was evaluated by using receiver operating characteristic(ROC)curve,calibration curve and clinical decision curve. Results:The PCR-RFLP detection results of 116 cases showed the genotype distribution of CYP11B2(344C > T)(rs1799998)as follows:CC type in 50 cases(43.1%),CT type in 46 cases(39.7%),and TT type in 20 cases(17.3%). There were 74 cases in the complete remission group and 42 cases in the incomplete remission group,and the rate of complete remission with hypertension at the end of the operation was 63.8%. Univariate analysis showed that the the differences between complete remission group and incomplete remission group in body mass index[(24.27 ± 2.90)kg/m 2 vs.(26.98 ± 3.17)kg/m 2, P<0.001],preoperative hypertension grade(grade 1/2/3:29/29/16 cases vs. 9/13/20 cases, P = 0.012),preoperative antihypertensive drugs(0/1/≥ 2:25/32/17 cases vs. 7/15/20 cases, P = 0.016),and CYP11B2(344C > T)(CC/TT + CT:39/35 cases vs. 11/31 cases, P = 0.006)were statistically significant. Multivariate analysis showed that the type of preoperative antihypertensive drugs[≥ 2: OR = 5.26(95% CI 1.12?24.61, P = 0.016;1: OR = 4.55(95% CI 1.23?22.47), P = 0.025]was the strongest independent predictor,followed by CYP11B2(344C > T)[ OR = 4.02(95% CI 1.16?13.82), P = 0.028]and BMI[ OR = 3.96(95% CI 2.26?6.92), P < 0.001]. Comparing the receiver operating feature(ROC)curves of the four types of machine learning models,the best model was the support vector machine model with an area under the curve(AUC)of 0.88(95% CI 0.82?0.95),followed by the gradient elevator model of 0.83(95% CI 0.76?0.91),the logistic regression model of 0.78(95% CI 0.68?0.88),and the random forest model of 0.77(95% CI 0.68?0.86). The optimal threshold of the Yoden index of the support vector machine model was 0.588,with a sensitivity of 78.5% and a specificity of 86.5%. The clinical decision curve and calibration curve show that the support vector machine model has a higher net benefit and acceptable stability and reliability. Conclusions:The support vector machine model incorporating CYP11B2 gene polymorphisms,BMI,and types of preoperative antihypertensive medications could effectively predict postoperative hypertension remission in primary aldosteronism patients,providing new evidence for personalized treatment strategies
4.Development and validation of a predictive model for postoperative blood pressure outcomes in primary aldosteronism based on CYP11B2 gene polymorphism
Qiangfeng FU ; Yongjia CHEN ; Shengtao ZENG ; Haoxiang XU ; Chenglin YANG ; Yue YANG ; Zhi CAO ; Wei WANG
Chinese Journal of Urology 2025;46(7):529-536
Objective:To construct and validate a clinical model combining CYP11B2 gene polymorphisms with clinical parameters to predict complete postoperative hypertension remission in primary aldosteronism patients.Methods:The clinical data of a total of 116 patients with primary aldosteronism who underwent unilateral adrenalectomy from April 2018 to August 2024 were retrospectively included. There were 63 males and 53 females,with a body mass index(BMI)of(25.50 ± 2.03)kg/m 2. Genomic DNA was extracted from venous blood leukocytes before surgery,and polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP)were used to detect CYP11B2(rs1799998)promoter region 344(C > T)base substitution. The follow-up duration was more than 6 months,with the following parameters recorded at the last follow-up:plasma aldosterone,renin,serum potassium,and sodium levels. Blood pressure progression and antihypertensive medication usage were also assessed. The postoperative outcome was determined according to the Primary Aldosteronism Surgical Outcome score(PASO)for primary aldosteronism,and the specific criteria were as follows. ① Clinical complete remission:the patient's blood pressure returned to normal(< 140/90 mmHg,1 mmHg = 0.133 kPa)and all antihypertensive drugs were discontinued;②Partial clinical remission:blood pressure returns to normal,and the number or dose of antihypertensive drugs is reduced compared with before;③Clinical non-remission:blood pressure does not drop and antihypertensive drugs do not change or increase compared with before surgery. Patients were divided into complete and incomplete remission groups. The chi-square test was used for univariate analysis,followed by binary logistic forward conditional regression for multivariate analysis,and a variety of machine learning algorithms such as random forest,logistic regression,support vector machine and gradient lifter were integrated,and the results of multivariate analysis were included to construct a postoperative blood pressure outcome model,and the predictive performance of the model was evaluated by using receiver operating characteristic(ROC)curve,calibration curve and clinical decision curve. Results:The PCR-RFLP detection results of 116 cases showed the genotype distribution of CYP11B2(344C > T)(rs1799998)as follows:CC type in 50 cases(43.1%),CT type in 46 cases(39.7%),and TT type in 20 cases(17.3%). There were 74 cases in the complete remission group and 42 cases in the incomplete remission group,and the rate of complete remission with hypertension at the end of the operation was 63.8%. Univariate analysis showed that the the differences between complete remission group and incomplete remission group in body mass index[(24.27 ± 2.90)kg/m 2 vs.(26.98 ± 3.17)kg/m 2, P<0.001],preoperative hypertension grade(grade 1/2/3:29/29/16 cases vs. 9/13/20 cases, P = 0.012),preoperative antihypertensive drugs(0/1/≥ 2:25/32/17 cases vs. 7/15/20 cases, P = 0.016),and CYP11B2(344C > T)(CC/TT + CT:39/35 cases vs. 11/31 cases, P = 0.006)were statistically significant. Multivariate analysis showed that the type of preoperative antihypertensive drugs[≥ 2: OR = 5.26(95% CI 1.12?24.61, P = 0.016;1: OR = 4.55(95% CI 1.23?22.47), P = 0.025]was the strongest independent predictor,followed by CYP11B2(344C > T)[ OR = 4.02(95% CI 1.16?13.82), P = 0.028]and BMI[ OR = 3.96(95% CI 2.26?6.92), P < 0.001]. Comparing the receiver operating feature(ROC)curves of the four types of machine learning models,the best model was the support vector machine model with an area under the curve(AUC)of 0.88(95% CI 0.82?0.95),followed by the gradient elevator model of 0.83(95% CI 0.76?0.91),the logistic regression model of 0.78(95% CI 0.68?0.88),and the random forest model of 0.77(95% CI 0.68?0.86). The optimal threshold of the Yoden index of the support vector machine model was 0.588,with a sensitivity of 78.5% and a specificity of 86.5%. The clinical decision curve and calibration curve show that the support vector machine model has a higher net benefit and acceptable stability and reliability. Conclusions:The support vector machine model incorporating CYP11B2 gene polymorphisms,BMI,and types of preoperative antihypertensive medications could effectively predict postoperative hypertension remission in primary aldosteronism patients,providing new evidence for personalized treatment strategies
5.Efficacy analysis of robotic versus laparoscopic-assisted right hemicolectomy
Bang LIU ; Peiyao WANG ; Zhaoxiong ZHANG ; Daohan WANG ; Wenxin ZHANG ; Pengyu CHEN ; Hengbin ZHAO ; Yongjia YAN ; Weihua FU
Chinese Journal of Digestive Surgery 2025;24(4):521-527
Objective:To investigate the short-term efficacy of robotic versus laparoscopic-assisted right hemicolectomy.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopathological data of 99 patients of right colon cancer who were admitted to Tianjin Medical University General Hospital from January 2020 to December 2023 were collected. There were 50 males and 49 females, aged 69(range, 26?89)years. Of the 99 patients, 41 patients undergoing robotic-assisted right hemicolectomy were divided into the robotic group, and 58 patients undergoing laparoscopic-assisted right hemicolectomy were divided into the lapa-roscopic group. Patients received robotic-assisted or laparoscopic-assisted right hemicolectomy operated by the same major surgeon. Observation indicators:(1) propensity score matching status and com-parison of clinical data of patients between the two groups after matching; (2) intraoperative and postoperative conditions.Comparison of measurement data with normal distribution between groups was conducted using the independent sample t test. Comparison of measurement data with skewed distribution between groups was conducted using the Mann-Whitney U test. Comparison of count data between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data was conducted using the nonparametic rank sum test. Propensity score matching was performed using the 1∶1 nearest neighbor matching method. The caliper value was set as 0.1. Results:(1) Propensity score matching status and comparison of clinical data of patients between the two groups after matching. Of the 99 patients, 82 patients were successfully matched, with 41 cases in each of the robotic group and the laparoscopic group. After propensity score matching, the elimination of history of abdominal operation confounding bias ensured comparability. (2) Intraoperative and postoperative conditions. After propensity score matching, the operation time of the robotic group was 215(range, 130?340)minutes, the volume of intraoperative blood loss was 50(range, 10?400)mL, the number of lymph node dissected was 21(range, 5?55), the number of intensive care unit stay was 15, time to postoperative first flatus was 3(range, 1?12)days, time to postoperative first food intake was 4(range, 2?14)days, duration of postoperative hospital stay was 8(range, 5?25)days. The above indicators of the laparoscopic group were 210(range, 140?370)minutes, 50(range, 5?150)mL, 19(range, 5?34),20, 3(range, 0?9)days, 5(range, 2?10)days, 8(range, 6?17)days, respectively. There was no significant difference in the above indicators between patients of the two groups ( Z=?0.94, ?1.87, ?1.32, χ2=1.25, Z=0.13, ?0.83, ?0.65, P>0.05). There was no patient converted to open operation in the robotic group, versus 1 patient converted to open operation in the laparoscopic group, showing no significant difference between patients of the two groups ( P>0.05). There were 6 cases in the robotic group and 4 cases in the laparoscopic group with complications, showing no significant difference between the two groups ( χ2=0.46, P>0.05). Both groups of patients achieved R 0 resection and had no readmission 30 days after surgery. The hospital expense was (11.0±1.8)×10 4 yuan of the robotic group, versus (9.0±1.7)×10 4 yuan of the laparoscopic group, showing a significant difference between the two groups ( t=?5.27, P<0.05). Conclusion:Robot-assisted right hemicolectomy is non inferior to laparoscopic-assisted right hemicolectomy in safety and efficacy, but with higher hospitalization costs.
6.Preparation of a rat model of diarrheal irritable bowel syndrome induced by an acetic acid enema combined with binding tail-clamping stress
Biyu LAI ; Mengying HONG ; Xing LI ; Yongjia HE ; Yao CHEN ; Xinwu LI ; Jia SHI ; Zihan TIAN ; Dan LI ; Jing NIE ; Chang SHE
Acta Laboratorium Animalis Scientia Sinica 2024;32(3):317-328
Objective To establish an ideal modeling method for diarrhea predominant irritable bowel syndrome(IBS-D)with anxiely and depression in rats,and to provide a basis for the clinical study of IBS-D.Methods 60 rats were used in this study.(1)At first,20 rats were randomly divided into blank,3%acetic acid enema,4%acetic acid enema,and 5%acetic acid enema groups.After the modeling and observation period,the diarrhea status and the degree of colon injury caused by different modeling concentrations were observed by diarrhea related index and colon histopathology.(2)After the optimal modeling concentration was assessed,40 rats were randomly divided into control(a),acetic acid enema(b),acetic acid+binding(c),and acetic acid+binding+tail clip(d)groups and correspondingly treated for 8 days.After the treatments,the general condition,diarrhea-related index,open field test(OFT)score,and colonic histopathology of rats were evaluated.Results(1)Compared with the blank group,the fecal trait score of 4%acetic acid enema group was increased on days 1 to 3 after intervention(P<0.001),and gradually decreased on days 4 to 7 after intervention.After 1 week,there was no significant difference between the fecal trait score and that of the blank group(P>0.05).Body weight was lower(P<0.01),fecal water content was higher(P<0.001).Compared with blank group,body weight of the 5%acetic acid enema group was decreased(P<0.001),the fecal trait score and diarrhea index were increased(P<0.01).No significant difference was found between 3%acetic acid enema and blank groups.The pathological colon tissue showed that,compared with the blank group,the mucosal structure of the 4%acetic acid enema group was complete with a small amount of inflammatory cell infiltration,and the pathological tissue score showed no significant difference(P>0.05),whereas the 5%acetic acid enema had a medium to large amount of inflammatory cell infiltration,and the pathological tissue score was increased(P<0.01).(2)Compared with group a,group b had lower body weight(P<0.001),and higher fecal trait score,fecal water content and diarrhea index(P<0.01).Compared with a and b groups,the body weight of c and d groups was lower(P<0.001),the fecal traits score,fecal water content,and diarrhea index were increased(P<0.01),and the colon running time was decreased(P<0.01).Compared with group c,Fecal water content in group D was higher(P<0.001).In the OFT score,compared with a and b groups,the OFT distance,standing times,and upright times in c and d groups were lower(P<0.05).Compared with c,the OFT distance,standing times,and upright times in d group were lower(P<0.05).The pathological tissue of colon showed that the mucosal structure of the four groups was complete,and there were different degrees of inflammatory cell infiltration.The pathological tissue scores of groups c and d were higher than those of groups a and b(P<0.05).Conclusions The 4%acetic acid concentration is appropriate for IBS-D modeling.After superposition and binding,the IBS-D diarrhea and internal hypersensitivity characteristic state can be better simulated.After superposition of a tail clip,the IBS-D model of liver stagnation and spleen deficiency can be established successfully.
7.Genetic and Phenotypic analysis of a Family with Van der Hoeve Syndrome Caused by COL1A1 Gene Mutation and Literature Review
Zequn NIE ; Chufeng HE ; Hong WU ; Jie LING ; Qinhui FU ; Bo PANG ; Shuai ZHANG ; Yongjia CHEN ; Lingyun MEI
Journal of Audiology and Speech Pathology 2024;32(5):389-393
Objective To conduct a detailed clinical phenotypic analysis and gene mutation detection on an au-tosomal dominant Van der Hoeve syndrome family,and to identify the pathogenic gene mutation sites of the family and the impact of the mutation on gene coding.Methods Clinical data including medical history,physical examina-tion and auxiliary examination were collected and peripheral blood samples were collected from the Van der Hoeve syndrome families.Exome sequencing and Sanger sequencing were performed on 22 family members.The data were analyzed using bioinformatics software.Results The family had a total of 5 generations,with each generation expe-riencing consecutive illnesses.Each generation of men and women could suffer from the disease,which conformed to the characteristics of autosomal dominant inheritance.The 12 patients in this family were all born with blue sclera and short stature.8 patients had a history of fractures and could heal normally.3 patients were considering hearing loss caused by Van der Hoeve syndrome.12 patients had a base deletion(c.1128delT)in exon 17 of the COL1A1 gene,causing a change in the amino acid coding after position 376 and ending the amino acid coding prematurely at position 539.10 asymptomatic individuals in this family didn't had this mutation.Conclusion The patient of this family was identified as Van der Hoeve syndrome caused by c.1128 delT mutation.
8.Expression and clinical significance of serum LncRNA GAS5 and miR-23a-3p in patients with sepsis complicated with acute kidney injury
Yongjia WU ; Linling CHEN ; Luqing LYU
Journal of Chinese Physician 2024;26(11):1652-1656
Objective:To investigate the expression of long non-coding RNA growth retard-specific transcript 5 (LncRNA GAS5) and micrornas (miR) 23a-3p in patients with sepsis complicated with acute kidney injury (AKI) and their clinical significance.Methods:A total of 206 patients with sepsis admitted to the Department of Emergency Medicine, Fuyang First Hospital Affiliated to Binjiang College of Zhejiang University of Traditional Chinese Medicine from May 2020 to February 2023 were prospectively selected and divided into AKI group (95 cases) and control group (111 cases) according to whether they had concurrent AKI. Serum LncRNA GAS5 and miR-23a-3p expressions were detected. logistic regression analysis was used to screen the influencing factors of patients with sepsis complicated with AKI, and receiver operating characteristic (ROC) curve was used to analyze the value of LncRNA GAS5 and miR-23a-3p in predicting sepsis complicated with AKI.Results:Mechanical ventilation, blood transfusion treatment ratio, Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score, Sequential Organ Failure Assessment (SOFA) score, white blood cell count (WBC), serum C-reactive protein (CRP), procalcitonin (PCT), blood urea nitrogen (BUN), Scr, blood lactic acid level of the AKI group were higher than those of the control group (all P<0.05); mean arterial pressure (MAP), urine volume, estimate glomerular filtration rate (eGFR) at admission were lower than those of the control group (all P<0.05). Serum LncRNA GAS5 expression (5.12±1.69 vs 2.30±0.42) in AKI group was higher than that in the control group ( P<0.05), and miR-23a-3p expression (1.05±0.13 vs 3.04±0.67) was lower than that in the control group ( P<0.05). Logistic regression analysis showed that high APACHE Ⅱ score, high SOFA score and high expression of LncRNA GAS5 were risk factors for AKI in sepsis patients (all P<0.05). High eGFR and high expression of miR-23a-3p were protective factors (all P<0.05). The area under the curve (AUC) predicted by LncRNA GAS5 and miR-23a-3p for patients with sepsis complicated with AKI was 0.808 and 0.759, and the AUC of combined prediction was 0.882, which was higher than that predicted by single indicator. Conclusions:The expression of LncRNA GAS5 is up-regulated and the expression of miR-23a-3p is down-regulated in serum of patients with sepsis complicated with AKI. The combined detection of LncRNA GAS5 and miR-23a-3p is of high value in predicting the risk of AKI in patients with sepsis.
9.A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application
Anhai CHEN ; Jie LING ; Xin PENG ; Xianlin LIU ; Shuang MAO ; Yongjia CHEN ; Mengyao QIN ; Shuai ZHANG ; Yijiang BAI ; Jian SONG ; Zhili FENG ; Lu MA ; Dinghua HE ; Lingyun MEI ; Chufeng HE ; Yong FENG
Clinical and Experimental Otorhinolaryngology 2023;16(4):342-358
Objectives:
. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing.
Methods:
. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement.
Results:
. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband.
Conclusion
. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.
10.Improvement of inflammation and glucolipid metabolism in adipose tissues of obese mice by Mushroom
Yi Chen ; Binbin Zhu ; Mingxuan Zheng ; Fenfen Sun ; Yue Zhang ; Yongjia Liu ; Yinghua Yu ; Wei Pan ; Xiaoying Yang
Acta Universitatis Medicinalis Anhui 2022;57(6):885-890
Objective:
To investigate the ameliorative effects of Mushroom on adipose tissue inflammation and glucolipid metabolism in mice fed a high-fat diet, and to provide a theoretical basis for the mechanisms of Mushroom regulating glucolipid metabolism and inflammatory responses.
Methods:
C57 BL/6 J mice were fed with normal diet(LF) group, high-fat diet(HF)group and high-fat diet + Mushroom(HF+Mushroom) group for 15 weeks.Then, body weight subcutaneous and epididymal white adipose tissue weight were measured. The morphological changes of adipose tissues were compared by HE staining, and the expression of genes related to inflamation, glycolysis and fatty acid oxidation pathways were detected by RT-PCR and Western blot.
Results:
Compared with the LF group, the HF group had increased body weight, increased subcutaneous and epididymal white fat weight and adipocyte size, and upregulated expression of tumor necrosis factor-α(TNF-α), interleukin-6(IL-6), monocyte chemoattractant protein-1(MCP-1), CD68, inducible nitric oxide synthase(iNOS), pyruvate kinase(PK), phosphofructokinase(PFK), hypoxia inducible factor-1α(HIF-1α) and peroxisome proliferator activated receptor alpha(PPARα) in adipose tissues, while the expression of carnitine palmitoyl transferase-1 A(CPT-1 A), cytochrome P450 4 a10(CYP4 a10) and medium-chain acyl-coenzyme a dehydrogenase(MCAD) were downregulated(P<0.05). Compared with the HF group, Mushroom supplementation reduced body weight, adipose tissue weight and adipocyte size, and downregulated the expression of pro-inflammatory factors and glycolytic pathway-related factors in adipose tissues, while the expression of fatty acid oxidation pathway-related factors were upregulated(P<0.05).
Conclusion
Mushroom can ameliorate inflammation and disorders of glycolipid metabolism in adipose tissues of obese mice.


Result Analysis
Print
Save
E-mail