1.Efficacy and safety of Babaodan Capsule in patients with chronic hepatitis B virus infection comorbid with gallbladder polyps
Qianqian NIU ; Huan CHEN ; Ying ZHENG ; Chunyan GOU ; Chen XU ; Li LI ; Xinxin WANG ; Jianping LIU ; Zhaolan LIU ; Xiuhui LI
Journal of Clinical Hepatology 2026;42(2):304-311
ObjectiveTo investigate the efficacy and safety of Babaodan Capsule (BBD) in the treatment of patients with chronic hepatitis B virus (HBV) infection with damp-heat in the liver and gallbladder comorbid with gallbladder polyps. MethodsA randomized, double-blinded, placebo-controlled single-center trial was conducted among 120 patients with chronic HBV infection who were admitted to Beijing YouAn Hospital, Capital Medical University, from August 2020 to April 2023, and they were divided into treatment group (BBD) and control group (placebo), with 60 patients in each group. The course of treatment was 24 weeks, and follow-up assessments were conducted every 4 weeks. The primary outcome measures were the number and maximum diameter of gallbladder polyps (assessed by ultrasound), and the secondary outcome measures included traditional Chinese medicine (TCM) syndrome score, blood lipid levels, and liver function parameters. The independent-samples t test or the Wilcoxon rank-sum test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups; the Wilcoxon rank-sum test was used for comparison of ranked data between two groups; the generalized estimating equation was used to analyze repeated measures data. ResultsAfter 8 weeks of treatment, the treatment group had a significantly smaller diameter of polyps and a significantly lower number of polyps than the control group (Z=-1.76 and -1.80, both P<0.05), and after 24 weeks of treatment, the treatment group had a significantly higher polyp reduction rate than the control group (30.51% vs 10.91%, P<0.05). The subgroup analysis showed that patients receiving combined antiviral therapy, male patients, patients with a diameter of polyps of <5 mm, and patients with multiple polyps tended to achieve significantly greater benefits. At week 8 of treatment, the treatment group had a significantly better TCM syndrome score than the control group (Z=-2.35, P<0.05); after treatment, compared with the control group, the treatment group had a significantly greater increase in high-density lipoprotein (Z=-1.85, P<0.05) and significantly lower levels of alanine aminotransferase (Z=-2.06, P <0.05), aspartate aminotransferase (Z=-2.13, P<0.05), total bilirubin (Z=-2.12, P<0.05), and direct bilirubin (Z=-3.09, P<0.05). No serious adverse events were reported in either group. ConclusionBBD can effectively reduce the size of gallbladder polyps, improve TCM syndrome score, and reduce the level of bilirubin in patients with chronic HBV infection with damp-heat in the liver and gallbladder, with a favorable safety profile, and it may be more suitable for patients receiving combined antiviral therapy and specific subgroups (male patients, patients with a diameter of polyps of <5 mm, and patients with multiple polyps.
2.Analysis of Risk Factors and Establishment of Prediction Model for Turbidity Toxicity Accumulation Syndrome in Patients with Chronic Atrophic Gastritis
Yican WANG ; Chenggong ZHAO ; Pengli DU ; Jie WANG ; Yuxi GUO ; Haiyan BAI ; Yongli HUO ; Xiaomeng LANG ; Zheng ZHI ; Bolin LI ; Jianping LIU ; Yanru CAI ; Jianming JIANG ; Qian YANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):288-295
ObjectiveThis paper aims to explore the risk factors for chronic atrophic gastritis (CAG) with turbidity toxin accumulation syndrome and establish a prediction model. MethodsClinical data of 180 patients with CAG who participated in the "clinical study of Xianglian Huazhuo Particles blocking CAG cancer transformation" of Hebei Sheng Zhong Yi Yuan from July 2021 to March 2022 were collected. After confounding factors were controlled by propensity score matching, patients were divided into a training set (namely dev) and a validation set (namely vad) in a seven to three ratio. The risk factors for CAG with turbidity toxin accumulation syndrome in the training set were investigated by using univariate Logistic regression analysis and least absolute shrinkage and selection operator (namely Lasso) regression algorithms. Subsequently, a model, named model 1se, was developed by using the training set data to predict the risk factors for CAG with turbidity toxin accumulation syndrome. The accuracy of the prediction model was assessed by using various methods, including the receiver operating characteristic (ROC) curve, Hosmer-Lemeshow test (H-L), calibration plot, and decision curve analysis (DCA). ResultsAge, body mass index (BMI), family history of cancer, job and life satisfaction, yellow and greasy fur with slippery pulse, and heavy body sensation were independent risk factors of the model. The prediction model showed excellent predictive value for both the training and validation sets. ConclusionThe established prediction model for CAG with turbidity toxin accumulation syndrome has high discrimination and excellent calibration, which could provide an excellent clinical basis for disease diagnosis and individualized treatment of patients.
3.Analysis of Risk Factors and Establishment of Prediction Model for Turbidity Toxicity Accumulation Syndrome in Patients with Chronic Atrophic Gastritis
Yican WANG ; Chenggong ZHAO ; Pengli DU ; Jie WANG ; Yuxi GUO ; Haiyan BAI ; Yongli HUO ; Xiaomeng LANG ; Zheng ZHI ; Bolin LI ; Jianping LIU ; Yanru CAI ; Jianming JIANG ; Qian YANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):288-295
ObjectiveThis paper aims to explore the risk factors for chronic atrophic gastritis (CAG) with turbidity toxin accumulation syndrome and establish a prediction model. MethodsClinical data of 180 patients with CAG who participated in the "clinical study of Xianglian Huazhuo Particles blocking CAG cancer transformation" of Hebei Sheng Zhong Yi Yuan from July 2021 to March 2022 were collected. After confounding factors were controlled by propensity score matching, patients were divided into a training set (namely dev) and a validation set (namely vad) in a seven to three ratio. The risk factors for CAG with turbidity toxin accumulation syndrome in the training set were investigated by using univariate Logistic regression analysis and least absolute shrinkage and selection operator (namely Lasso) regression algorithms. Subsequently, a model, named model 1se, was developed by using the training set data to predict the risk factors for CAG with turbidity toxin accumulation syndrome. The accuracy of the prediction model was assessed by using various methods, including the receiver operating characteristic (ROC) curve, Hosmer-Lemeshow test (H-L), calibration plot, and decision curve analysis (DCA). ResultsAge, body mass index (BMI), family history of cancer, job and life satisfaction, yellow and greasy fur with slippery pulse, and heavy body sensation were independent risk factors of the model. The prediction model showed excellent predictive value for both the training and validation sets. ConclusionThe established prediction model for CAG with turbidity toxin accumulation syndrome has high discrimination and excellent calibration, which could provide an excellent clinical basis for disease diagnosis and individualized treatment of patients.
4.Mechanism of Xiezhuo Jiedu Prescription in Treatment of Ulcerative Colitis by Inhibiting Ferroptosis and Alleviating Intestinal Mucosal Injury Based on Nrf2/SLC7A11/GPX4 Signaling Pathway
Qiang CHUAI ; Wenjing ZHAI ; Sujie JIA ; Xiaomeng LANG ; Jie REN ; Xin KANG ; Shijie REN ; Xingchi LIU ; Xin LIU ; Xiaohong JIANG ; Jianping LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):160-169
ObjectiveTo investigate the mechanism of Xiezhuo Jiedu prescription in the treatment of ulcerative colitis (UC) by inhibiting ferroptosis and alleviating intestinal mucosal injury based on the nuclear factor E2 related factor 2/solute carrier family 7 member/glutathione peroxidase 4 (Nrf2/SLC7A11/GPX4) signaling pathway. MethodsA total of 60 male SD rats were divided into a normal group, a model group, high- and low-dose Xiezhuo Jiedu prescription groups (26.64 and 13.32 g·kg-1, respectively), a ferroptosis inhibitor group (Ferrostatin-1, 0.005 g·kg-1), and a mesalazine group (0.27 g·kg-1), with 10 rats in each group. A UC rat model was established by intrarectal administration of trinitrobenzene sulfonic acid (TNBS)-ethanol. The normal group and the model group were intragastrically administered normal saline. The other groups were given intragastric administration according to the corresponding dosage for 7 d. The general condition, disease activity index (DAI) score, colon length, and mucosal injury index (CDMI) score were observed in each group. The pathological changes of colon tissue in each group were observed by hematoxylin-eosin (HE) staining. The intestinal mucosa and mitochondrial morphology in each group were observed by transmission electron microscopy. The expression levels of Occludin, Claudin-1, mucin 2 (MUC2), and E-cadherin in intestinal tissue were detected by immunofluorescence (IF). Enzyme-linked immunosorbent assay (ELISA) was used to detect the expression levels of serum tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and interleukin-10 (IL-10) in each group, and a lactic acid assay kit or ELISA was employed to detect the expression levels of reactive oxygen species (ROS), ferrous ions (Fe2+), glutathione (GSH), malondialdehyde (MDA), 4-hydroxynonenal (4-HNE), diamine oxidase (DAO), and D-lactate (D-LA). Real-time quantitative polymerase chain reaction (Real-time PCR) was applied to detect the mRNA expression levels of Nrf2, SLC7A11, GPX4, Occludin, Claudin-1, MUC2, and E-cadherin in each group, and Western blot was adopted to detect the protein expression levels of Nrf2, p-Nrf2, SLC7A11, and GPX4 in each group. ResultsCompared with the normal group, rats in the model group exhibited listlessness, sluggish response, and mucopurulent and bloody stools. The model group also showed significantly increased DAI score, colon length, CDMI score, and expression levels of TNF-α, IL-6, ROS, Fe2+, MDA, 4-HNE, DAO, and D-LA (P<0.01). In addition, it presented significantly decreased IF values of Occludin, Claudin-1, MUC2, and E-cadherin and mRNA and protein expression levels of IL-10, GSH, Nrf2, p-Nrf2, SLC7A11, and GPX4 (P<0.01). There were different degrees of improvement in each administration group after treatment, and the improvement was the most significant in the high-dose Xiezhuo Jiedu prescription group (P<0.01). ConclusionXiezhuo Jiedu prescription may alleviate intestinal mucosal injury by inhibiting ferroptosis of intestinal epithelial cells via regulating the Nrf2/SLC7A11/GPX4 signaling pathway, thereby exhibiting efficacy in the treatment of UC.
5.Evaluation of CARIFS Score and Negative Antigen Conversion Rate of Qingxuan Daozhi Formula in Treatment of Influenza in Children (Heat Accumulation in Lung and Stomach Syndrome):A Multi-center Randomized Controlled Clinical Study
Jing WANG ; Liqun WU ; Tiegang LIU ; Yongning CAO ; Jing QIU ; Jing LI ; Huaqing TAN ; Ying ZHANG ; Xulei GOU ; Jia WANG ; Jing LI ; Haipeng CHEN ; Xueying QIN ; Yuanshuo TIAN ; Yang WANG ; Chen BAI ; Zhendong WANG ; Qianqian LI ; He YU ; Xueyan MA ; Fei DONG ; Lin JIANG ; Yingqi XU ; Jianping LIU ; Xiaohong GU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(13):188-196
ObjectiveThis paper aims to observe the syndrome improvement and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children (heat accumulation in the lung and stomach syndrome). MethodsThrough a multi-center randomized controlled methodology design,confirmed influenza cases were collected from October 2022 to April 2023 in the pediatrics department of eight hospitals,such as Dongfang Hospital of Beijing University of Chinese Medicine. A total of 180 children with influenza and heat accumulation in the lung and stomach syndrome conforming to the standard were recruited through the clinic. The sick children meeting the inclusion criteria were randomly divided into groups by a block-randomized method. The children in the experimental group were treated with Qingxuan Daozhi formula for five days,and those in the control group were treated with Oseltamivir Phosphate Granules for five days. The primary efficacy indicator was the negative conversion rate of influenza antigen detection. Secondary efficacy indicators were the Canadian acute respiratory illness and flu scale (CARIFS) and the incidence of complications,severe cases, and critical cases. Follow-up observation was conducted on the day of enrollment,48 hours after medication,72 hours after medication, and (6+1) d after medication. ResultsOne hundred and eighty participants were randomly assigned to the experimental group (90 cases) or the control group (90 cases). All participants were followed up during the study. Comparison of influenza antigen detection results in the primary efficacy indicators showed that the average time of negative influenza antigen conversion in the experimental group was (5.29±1.25) d,and that in the control group was (5.40±1.68) d,without a statistically significant difference. After five days of intervention,52 cases in the experimental group and 51 cases in the control group converted to negative,without a statistically significant difference. CARIFS score results in the secondary efficacy indicators showed that during 72 hours after intervention,there were statistically significant differences between the experimental group and the control group in three dimensions, including headache,muscle soreness, and the need for extra care (P<0.05). On the (6+1) days after the intervention,the differences in both the experimental group and the control group were statistically significant in 10 dimensions, including sore throat,bad sleep,uncomfortable feeling,poor spirit and fatigue,crying more than usual,the need for extra care,symptom,function,influence on parents,and total score (P<0.05). The comparison results within the group in the dimensional scores of symptom, function, and influence on parents,as well as the CARIFS total score showed that with the delay of follow-up time,scores of both groups decreased significantly,with a statistically significant difference (P<0.01). Inter-group comparison results showed that the mean score of the experimental group was higher than that of the control group at the time of enrollment. With the progress of intervention,the score of the experimental group was significantly decreased compared with that of the control group. At the end of follow-up,the mean score of the experimental group was lower than that of the control group,with no statistically significant difference. In terms of the incidence of complications,severe cases, and critical cases, there were no complications,severe cases, and critical cases in the two groups,without a statistically significant difference. ConclusionThe symptom improvement effect and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children (heat accumulation in the lung and stomach syndrome) are not inferior to Oseltamivir Phosphate granules, and children's acceptance is better. It can be more widely used in clinical treatment of influenza in children (heat accumulation in the lung and stomach syndrome).
6.A panel study on association of short-term air pollution exposure and peripheral blood microparticles in healthy adults
Bin ZHANG ; Xinghou HE ; Jiahui LIU ; Xuyang SHAN ; Yan FANG ; Huiying XU ; Erlu ZHAO ; Shengcong LIU ; Hongbing XU ; Jianping LI ; Wei HUANG
Journal of Environmental and Occupational Medicine 2026;43(1):1-7
Background Microparticles (MPs) are one of the main medium of inflammatory reaction with an important role in atherosclerotic progression. Studies on association of air pollution exposure and levels of peripheral blood MPs are limited among human. Objective To evaluate the effects of short-term exposure to air pollution on levels of peripheral blood MPs. Method A panel of 73 healthy adults was followed with 4 repeated follow-ups in Beijing, China, from November 2014 to January 2016. During each visit, we collected questionnaire information, fasting venous blood, urine, and exposures to fine particulate matter (PM2.5), black carbon, nitric oxide, nitrogen dioxide, nitrogen oxide, sulfur dioxide, carbon monoxide, and ozone. We used linear mixed-effect models to analyze associations of air pollution exposure with levels of total MPs (TMPs) and MPs derived from various cells. Stratified analysis was conducted by levels of C-reactive protein (CRP) and malondialdehyde (MDA). Results The results showed significant associations between air pollution exposure and peripheral blood TMPs at 2 h-6 d prior to the follow-ups (P<0.05), while no statistical associations were found for MPs derived from different cell types. Significant increases in TMPs of 7.8% (95%CI: 0.7%, 15.3%) and 14.3% (95%CI: 2.8%, 27.2%) were observed with each interquartile range (IQR) increase in PM2.5 (IQR=64.9 μg·m−3) at prior 18 h and NO (IQR=40.5 μg·m−3) at prior 48 h. Among participants with low levels of CRP and MDA, significantly positive associations were observed between air pollution exposure and levels of TMPs (P<0.05). Conclusion Short-term exposure to air pollution is significantly associated with increased levels of circulating MPs in healthy adults, and in people with lower systemic inflammation, peripheral blood MPs levels are more easily affected after exposure to air pollutants.
7.Bioinformatics Reveals Mechanism of Xiezhuo Jiedu Precription in Treatment of Ulcerative Colitis by Regulating Autophagy
Xin KANG ; Chaodi SUN ; Jianping LIU ; Jie REN ; Mingmin DU ; Yuan ZHAO ; Xiaomeng LANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):166-173
ObjectiveTo explore the potential mechanism of Xiezhuo Jiedu prescription in regulating autophagy in the treatment of ulcerative colitis (UC) by bioinformatics and animal experiments. MethodsThe differentially expressed genes (DEGs) in the colonic mucosal tissue of UC patients was obtained from the Gene Expression Omnibus (GEO), and those overlapped with autophagy genes were obtained as the differentially expressed autophagy-related genes (DEARGs). DEARGs were imported into Metascape and STRING, respectively, for gene ontology/Kyoto Encyclopedia of Genes and Genomics (GO/KEGG) enrichment analysis and protein-protein interaction (PPI) analysis. Finally, 15 key DEARGs were obtained. The core DEARGs were obtained by least absolute shrinkage and selection operator (LASSO) regression and receiver operating characteristic curve (ROC) analysis. The CIBERSORT deconvolution algorithm was used to analyze the immunoinfiltration of UC patients and the correlations between core DEARGs and immune cells. C57BL/6J mice were assigned into a normal group and a modeling group. The mouse model of UC was established by free drinking of 2.5% dextran sulfate sodium. The modeled mice were assigned into low-, medium-, and high-dose Xiezhuo Jiedu prescription and mesalazine groups according to the random number table method and administrated with corresponding agents by gavage for 7 days. The colonic mucosal morphology was observed by hematoxylin-eosin staining. The protein and mRNA levels of cysteinyl aspartate-specific proteinase 1 (Caspase-1), cathepsin B (CTSB), C-C motif chemokine-2 (CCL2), CXC motif receptor 4 (CXCR4), and hypoxia-inducing factor-1α (HIF-1α) in the colon tissue were determined by Western blot and real-time fluorescence quantitative polymerase chain reaction, respectively. ResultsThe dataset GSE87466 was screened from GEO and interlaced with autophagy genes. After PPI analysis, LASSO regression, and ROC analysis, the core DEARGs (Caspase-1, CCL2, CTSB, and CXCR4) were obtained. The results of immunoinfiltration analysis showed that the counts of NK cells, M0 macrophages, M1 macrophages, and dendritic cells in the colonic mucosal tissue of UC patients had significant differences, and core DEARGs had significant correlations with these immune cells. This result, combined with the prediction results of network pharmacology, suggested that the HIF-1α signaling pathway may play a key role in the regulation of UC by Xiezhuo Jiedu prescription. The animal experiments showed that Xiezhuo Jiedu prescription significantly alleviated colonic mucosal inflammation in UC mice. Compared with the normal group, the model group showed up-regulated protein and mRNA levels of caspase-1, CCL2, CTSB, CXCR4, and HIF-1α, which were down-regulated after treatment with Xiezhuo Jiedu prescription or mesalazine. ConclusionCaspase-1, CCL2, CTSB, and CXCR4 are autophagy genes that are closely related to the onset of UC. Xiezhuo Jiedu prescription can down-regulate the expression of core autophagy genes to alleviate the inflammation in the colonic mucosa of mice.
8.Comparison of the effects of three time series models in predicting the trend of erythrocyte blood demand
Yajuan QIU ; Jianping ZHANG ; Jia LUO ; Peilin LI ; Mengzhuo LUO ; Qiongying LI ; Ge LIU ; Qing LEI ; Kai LIAO
Chinese Journal of Blood Transfusion 2025;38(2):257-262
[Objective] To analyse and predict the tendencies of using erythrocyte blood in Changsha based on the autoregressive integrated moving average (ARIMA) model, long short-term memory (LSTM) and ARIMA-LSTM combination model, so as to provide reliable basis for designing a feasible and effective blood inventory management strategy. [Methods] The data of erythrocyte usage from hospitals in Changsha between January 2012 and December 2023 were collected, and ARIMA model, LSTM model and ARIMA-LSTM combination model were established. The actual erythrocyte consumption from January to May 2024 were used to assess and verify the prediction effect of the models. The extrapolation prediction accuracy of the models were tested using two evaluation indicators: mean absolute percentage error (MAPE) and root mean square error (RMSE), and then the prediction performance of the model was compared. [Results] The RMSE of LSTM model, optimal model ARIMA(1,1,1)(1,1,1)12 and ARIMA-LSTM combination model were respectively 5 206.66, 3 096.43 and 2 745.75, and the MAPE were 18.78%,11.54% and 9.76% respectively, which indicated that the ARIMA-LSTM combination model was more accurate than the ARIMA model and LSTM model, and the prediction results was basically consistent with the actual situation. [Conclusion] The ARIMA-LSTM model can better predict the clinical erythrocyte consumption in Changsha in the short term.
9.Preliminary application of sacral neuromodulation in patients with benign prostatic hyperplasia complicated with underactive bladder after transurethral resection of the prostate
Ning LIU ; Yan ZHANG ; Tao LI ; Qiang HU ; Kai LU ; Lei ZHANG ; Jianping WU ; Shuqiu CHEN ; Bin XU ; Ming CHEN
Journal of Modern Urology 2025;30(1):39-42
[Objective] To evaluate the efficacy and safety of sacral neuromodulation (SNM) in the treatment of patients with benign prostatic hyperplasia (BPH) complicated with underactive bladder (UAB) who respond poorly to transurethral resection of the prostate (TURP). [Methods] A retrospective analysis was performed on 10 patients with BPH and UAB treated with TURP by the same surgeon in Zhongda Hospital Southeast University during Jan.2018 and Jan.2023.The residual urine volume was not significantly relieved after operation, and the maximum urine flow rate and urine volume per discharge were not significantly improved.All patients underwent phase I SNM, and urinary diaries were recorded before and after surgery to observe the average daily frequency of urination, volume per urination, maximum urine flow rate, and residual urine volume. [Results] The operation time was (97.6±11.2) min.During the postoperative test of 2-4 weeks, if the residual urine volume reduction by more than 50% was deemed as effective, SNM was effective in 6 patients (60.0%). Compared with preoperative results, the daily frequency of urination [(20.2±3.8) times vs. (13.2±3.2) times], volume per urination [(119.2±56.7) mL vs. (246.5±59.2) mL], maximum urine flow rate [(8.7±1.5) mL/s vs. (16.5±2.6) mL/s], and residual urine volume [(222.5±55.0) mL vs. (80.8±16.0) mL] were significantly improved, with statistical significance (P<0.05). There were no complications such as bleeding, infection, fever or pain.The 6 patients who had effective outcomes successfully completed phase II surgery, and the fistula was removed.During the follow-up of 1 year, the curative effect was stable, and there were no complications such as electrode displacement, incision infection, or pain in the irritation sites.The residual urine volume of the other 4 unsuccessful patients did not improve significantly, and the electrodes were removed and the vesicostomy tube was retained. [Conclusion] SNM is safe and effective in the treatment of BPH with UAB patients with poor curative effects after TURP.
10.Genotype and phenotype correlation analysis of retinitis pigmentosa-associated RHO gene mutation in a Yi pedigree
Yajuan ZHANG ; Hong YANG ; Hongchao ZHAO ; Dan MA ; Meiyu SHI ; Weiyi ZHENG ; Xiang WANG ; Jianping LIU
International Eye Science 2025;25(3):499-505
AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

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