1.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.
2.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.
3.Study on quality evaluation of Mongolian medicine Sanzi powder:fingerprint,chemical pattern recognition and multi-component quantification analysis
Jun LI ; Rongjie LI ; Fengye ZHOU ; Qian ZHANG ; Wei ZHANG ; Bohan ZHANG ; Shu WANG ; Xitong ZHAO ; Jianping CHEN
China Pharmacy 2025;36(4):414-420
OBJECTIVE To establish fingerprint, chemical pattern recognition and multi-component quantification analysis of Sanzi powder, and evaluate its quality. METHODS HPLC method was adopted. The fingerprints of 15 batches of Sanzi powder were established by using the Similarity Evaluation System for Chromatographic Fingerprint of Traditional Chinese Medicine (2012 edition). Cluster analysis, principal component analysis and orthogonal partial least squares-discriminant analysis were also conducted. The variable importance in projection (VIP) value greater than 1 was used as the index to screen the differential markers, and the contents of the differential markers were determined by the same HPLC method. RESULTS A total of 21 common peaks in the HPLC fingerprints of 15 batches of Sanzi powder were calibrated, and the similarities of them were 0.994- 0.999; 6 common peaks were identified, including gallic acid (peak 3), garminoside (peak 10), corilagin (peak 11), chebulinic acid (peak 16), ellagic acid (peak 18), crocin Ⅰ (peak 19). According to the results of cluster analysis, YKD2024LH005,No.YKD2023LH062) principal component analysis and orthogonal partial least squares-discriminant analysis, 15 batches of samples could be clustered into two categories: S1, S5, S7, S9, S14 were clustered into one category; S2-S4, S6, S8, S10-S13, S15 were clustered into one category. VIP values of 11 differential components such as corilagin, chebulinic acid and ellagic acid were higher than 1. Among 15 batches of samples, the contents of corilagin, chebulinic acid and ellagic acid ranged 2.667-5.152, 9.506- 13.522, 0.891-1.811 mg/g. CONCLUSIONS Established HPLC fingerprint and multi-component quantification analysis of Sanzi powder are rapid and simple, and can be used for quality evaluation of Sanzi powder by combining with chemical pattern recognition. Eleven components such as corilagin, chebulinic acid and ellagic acid are differential markers affecting the quality of Sanzi powder.
4.Dipsacus asper Treats Alzheimer's Disease in Caenorhabditis elegans by Regulating PPARα/TFEB Pathway
Mengmeng WANG ; Jianping ZHAO ; Limin WU ; Shuang CHU ; Yanli HUANG ; Zhenghao CUI ; Yiran SUN ; Pan WANG ; Hui WANG ; Zhenqiang ZHANG ; Zhishen XIE
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(5):104-114
ObjectiveTo investigate the anti-Alzheimer's disease (AD) effect of Dipsacus asper(DA) in the Caenorhabditis elegans model, and decipher the underlying mechanism via the peroxisome proliferator-activated receptor α (PPARα)/transcription factor EB (TFEB) pathway. MethodsFirst, transgenic AD C. elegans individuals were assigned into the blank control, model, positive control (WY14643, 20 µmol·L-1), and low-, medium-, and high-dose (100, 200, and 400 mg·L-1, respectively) DA groups. The amyloid β-42 (Aβ42) formation in the muscle cells, the paralysis time, and the deposition of amyloid β-protein (Aβ) in the head were detected. The lysosomal autophagy in the BV2 cell model was examined by Rluc-LC3wt/G120A. The expression levels of lysosomal autophagy-related proteins LC3Ⅱ, LC3I, LAMP2, and TFEB were detected by Western blot. Real-time quantitative polymerase chain reaction (Real-time PCR) was employed to determine the mRNA levels of autophagy-related genes beclin1 and Atg5 and lysosome-related genes LAMP2 and CLN2 downstream of PPARα/TFEB. A reporter gene assay was used to detect the transcriptional activities of PPARα and TFEB. Immunofluorescence was used to detect the fluorescence intensity of PPARα, and the active components of the ethanol extract of DA were identified by UPLC-MS. RCSB PDB, Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), and Autodock were used to analyze the binding between the active components and PPARα-ligand-binding domain (LBD). ResultsCompared with the model group, the positive control group and 200 and 400 mg·L-1 DA groups showed prolonged paralysis time (P<0.05), and all the treatment groups showed decreased Aβ deposition in the head (P<0.01). DA within the concentration range of 50-500 mg·L-1 did not affect the viability of BV2 cells. In addition, DA enhanced the autophagy flux (P<0.05), up-regulated the mRNA levels of beclin1, Atg5, LAMP2, and CLN2 (P<0.05, P<0.01), promoted the nuclear translocation of TFEB (P<0.05), increased LAMP2 expression and autophagy flux (P<0.05, P<0.01), and enhanced the transcriptional activities of PPARα and TFEB (P<0.01). The positive control group and 200 and 400 mg·L-1 DA groups showed enhanced fluorescence intensity of PPARα in the BV2 nucleus (P<0.01). UPLC-MS detected nine known compounds of DA, from which 8 active components of DA were screened out. The docking results suggested that a variety of components in DA could bind to PPARα-LBD and form stable hydrogen bonds. ConclusionDA may reduce the pathological changes in AD by regulating the PPARα-TFEB pathway.
5.Clinical Application of Green Prescription of Traditional Chinese Medicine:Problems and Solution Strategies
Yike SONG ; Zhijun BU ; Wenxin MA ; Kai LIU ; Yuyi WANG ; Yuan SUN ; Yang SHEN ; Hongkui LIU ; Jianping LIU ; Zhaolan LIU
Journal of Traditional Chinese Medicine 2025;66(11):1094-1098
Green prescription is a written prescription aimed at improving health by promoting physical activity and improving diet, with advantages such as high cost-effectiveness, strong feasibility, and minimal harm to patients. The theory of traditional Chinese medicine (TCM) green prescription integrates the health philosophy of "following rule of yin and yang, and adjusting ways to cultivating health", the exercise philosophy of balancing yin-yang and the five elements, and the dietary philosophy of moderation and balance, which embody core TCM concepts such as treating disease before its onset and harmony between humans and nature. It has also developed traditional exercise practices like Tai Chi, Baduanjin, Wuqinxi, Yi-Gin-Ching, and Qigong, as well as dietary adjustments like medicated diet and herbal wines. However, it is believed that the TCM green prescription currently suffers from insufficient evidence-based research, low patient awareness and acceptance, and weak basic research. Based on this, it is proposed that large-sample clinical trials should be conducted in the future to improve the quality of evidence-based medicine, basic research can be carried out with the help of artificial intelligence and other methods in research design, the hospital information system (HIS) can be used for control at the implementation level, and publicity and patient education can be strengthened through the new media, so as to promote the development and application of the TCM green prescriptions in the field of global health treatment.
6.Efficacy and safety of robot-assisted modified Y-shaped ileal orthotopic neobladder reconstruction
Tonglei ZHAO ; Weipu MAO ; Yiduo WANG ; Bin XU ; Shuqiu CHEN ; Weidong ZHU ; Ming CHEN ; Jianping WU
Journal of Modern Urology 2025;30(2):137-142
Objective: To investigate the efficacy and safety of robot-assisted modified Y-shaped ileal orthotopic neobladder reconstruction,so as to provide reference for clinical practice. Methods: The clinical data of 44 patients who underwent robot-assisted laparoscopic radical cystectomy,lymph node dissection,and modified Y-shaped ileal orthotopic neobladder reconstruction during Feb.2020 and Aug.2022 were retrospectively analyzed.The surgical position,Trocar position,and key surgical steps were reported.The perioperative conditions,postoperative complications,neobladder volume,maximum urinary flow rate,postvoid residual,renal function,and urinary control function were recorded. Results: All 44 surgeries were successfully completed,with operation time of (314.32±51.02) min,modified Y-shaped ileal orthotopic neobladder reconstruction time of (103.52±9.56) min,and bleeding volume of (128.18±57.27) mL.The postoperative time for fluid intake was (4.16±0.86) days,catheter indwelling time was (14.02±3.20) days,and patients were discharged 1 to 2 days after catheter removal.Clavien-Dindo grade Ⅱ and Ⅲ complications occurred in 15 and 2 patients,respectively.During the follow-up of (20.77±5.90) months,dysuria occurred in 1 case,urethral calculi in 2 cases,and incomplete bowel obstruction in 2 cases. The postoperative neobladder capacity was (195.75±15.51) mL,maximal urinary flow rate (20.30±2.05) mL/s,postvoid residual (19.86±13.80) mL and serum creatinine (81.98±25.97) μmol/L. The incidence of daytime and nocturnal urinary incontinence 3,6 and 12 months after operation were 20.45% and 29.55%,11.36% and 18.18%,and 4.55% and 9.09%,respectively. Conclusion: Robot-assisted modified Y-shaped ileal orthotopic neobladder reconstruction has favorable efficacy and safety,and low incidence of postoperative complications,which can be applied in clinical practice.
7.The Solomon Four-Group Design:Key Considerations in Design and Statistical Analysis and Their Significance in Clinical Trials of Traditional Chinese Medicine
Wenqian ZHANG ; Yufei LI ; Tong LIN ; Xintong WEI ; Yingjie WANG ; Jianping LIU ; Ying ZHANG
Journal of Traditional Chinese Medicine 2025;66(16):1649-1655
The Solomon four-group design, a critical method for improving internal validity in clinical research, can reduce bias and control the interference of Hawthorne effects and pretest sensitization on research results, which offers unique advantages in evaluating complex intervention outcomes. This paper systematically outlined the core framework and key points of statistical analysis of the Solomon four-group design, summarized its applications in clinical research at home and abroad, explored its advantages and limitations, and discussed the potential value in traditional Chinese medicine (TCM) clinical trials. It is believed that the Solomon four-group design can help distinguish between testing effects and intervention effects in TCM clinical studies, and reduce the bias in the evaluation of subjective indicators. Meanwhile, given the complexity of the Solomon four-group design and the particularity of TCM clinical research, it is proposed that future TCM clinical studies should focus on using psychological scales, know-ledge, attitude, and behavior measurements, and other similat evaluations as endpoints. It also advocates strengthening interdisciplinary collaboration to provide new methodological paths for TCM clinical research.
8.Clinical Efficacy of Xiaoji Hufei Formula in Protecting Children with Close Contact Exposure to Influenza: A Multicenter,Prospective, Non-randomized, Parallel, Controlled Trial
Jing WANG ; Jianping LIU ; Tiegang LIU ; Hong WANG ; Yingxin FU ; Jing LI ; Huaqing TAN ; Yingqi XU ; Yanan MA ; Wei WANG ; Jia WANG ; Haipeng CHEN ; Yuanshuo TIAN ; Yang WANG ; Chen BAI ; Zhendong WANG ; Qianqian LI ; He YU ; Xueyan MA ; Fei DONG ; Liqun WU ; Xiaohong GU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):223-230
ObjectiveTo evaluate the efficacy and safety of Xiaoji Hufei Formula in protecting children with close contact exposure to influenza, and to provide reference and evidence-based support for better clinical prevention and treatment of influenza in children. MethodsA multicenter, prospective, non-randomized, parallel, controlled trial was conducted from October 2021 to May 2022 in five hospitals, including Dongfang Hospital of Beijing University of Chinese Medicine. Confirmed influenza cases and influenza-like illness (ILI) cases were collected, and eligible children with close contact exposure to these cases were recruited in the outpatient clinics. According to whether the enrolled close contacts were willing to take Xiaoji Hufei formula for influenza prevention, they were assigned to the observation group (108 cases) or the control group (108 cases). Follow-up visits were conducted on days 7 and 14 after enrollment. The primary outcomes were the incidence of ILI and the rate of laboratory-confirmed influenza. Secondary outcomes included traditional Chinese medicine (TCM) symptom score scale for influenza, influenza-related emergency (outpatient) visit rate, influenza hospitalization rate, and time to onset after exposure to influenza cases. ResultsA total of 216 participants were enrolled, with 108 in the observation group and 108 in the control group. Primary outcomes: (1) Incidence of ILI: The incidence was 12.0% (13/108) in the observation group and 23.1% (25/108) in the control group, with the observation group showing a significantly lower incidence (χ2=4.6, P<0.05). (2) Influenza confirmation rate: 3.7% (4/108) in the observation group and 4.6% (5/108) in the control group, with no statistically significant difference. Secondary outcomes: (1) TCM symptom score scale: after onset, nasal congestion and runny nose scores differed significantly between the two groups (P<0.05), while other symptoms such as fever, sore throat, and cough showed no significant differences. (2) Influenza-related emergency (outpatient) visit rate: 84.6% (11 cases) in the observation group and 96.0% (24 cases) in the control group, with no significant difference. (3) Time to onset after exposure: The median onset time after exposure to index patients was 7 days in the observation group and 4 days in the control group, with a statistically significant difference (P<0.05). ConclusionIn previously healthy children exposed to infectious influenza cases under unprotected conditions, Xiaoji Hufei formula prophylaxis significantly reduced the incidence of ILI. Xiaoji Hufei Formula can be recommended as a specific preventive prescription for influenza in children.
9.Clinical Efficacy of Xiaoji Hufei Formula in Protecting Children with Close Contact Exposure to Influenza: A Multicenter,Prospective, Non-randomized, Parallel, Controlled Trial
Jing WANG ; Jianping LIU ; Tiegang LIU ; Hong WANG ; Yingxin FU ; Jing LI ; Huaqing TAN ; Yingqi XU ; Yanan MA ; Wei WANG ; Jia WANG ; Haipeng CHEN ; Yuanshuo TIAN ; Yang WANG ; Chen BAI ; Zhendong WANG ; Qianqian LI ; He YU ; Xueyan MA ; Fei DONG ; Liqun WU ; Xiaohong GU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):223-230
ObjectiveTo evaluate the efficacy and safety of Xiaoji Hufei Formula in protecting children with close contact exposure to influenza, and to provide reference and evidence-based support for better clinical prevention and treatment of influenza in children. MethodsA multicenter, prospective, non-randomized, parallel, controlled trial was conducted from October 2021 to May 2022 in five hospitals, including Dongfang Hospital of Beijing University of Chinese Medicine. Confirmed influenza cases and influenza-like illness (ILI) cases were collected, and eligible children with close contact exposure to these cases were recruited in the outpatient clinics. According to whether the enrolled close contacts were willing to take Xiaoji Hufei formula for influenza prevention, they were assigned to the observation group (108 cases) or the control group (108 cases). Follow-up visits were conducted on days 7 and 14 after enrollment. The primary outcomes were the incidence of ILI and the rate of laboratory-confirmed influenza. Secondary outcomes included traditional Chinese medicine (TCM) symptom score scale for influenza, influenza-related emergency (outpatient) visit rate, influenza hospitalization rate, and time to onset after exposure to influenza cases. ResultsA total of 216 participants were enrolled, with 108 in the observation group and 108 in the control group. Primary outcomes: (1) Incidence of ILI: The incidence was 12.0% (13/108) in the observation group and 23.1% (25/108) in the control group, with the observation group showing a significantly lower incidence (χ2=4.6, P<0.05). (2) Influenza confirmation rate: 3.7% (4/108) in the observation group and 4.6% (5/108) in the control group, with no statistically significant difference. Secondary outcomes: (1) TCM symptom score scale: after onset, nasal congestion and runny nose scores differed significantly between the two groups (P<0.05), while other symptoms such as fever, sore throat, and cough showed no significant differences. (2) Influenza-related emergency (outpatient) visit rate: 84.6% (11 cases) in the observation group and 96.0% (24 cases) in the control group, with no significant difference. (3) Time to onset after exposure: The median onset time after exposure to index patients was 7 days in the observation group and 4 days in the control group, with a statistically significant difference (P<0.05). ConclusionIn previously healthy children exposed to infectious influenza cases under unprotected conditions, Xiaoji Hufei formula prophylaxis significantly reduced the incidence of ILI. Xiaoji Hufei Formula can be recommended as a specific preventive prescription for influenza in children.
10.Clinical features of hepatitis B virus-related early-onset and late-onset liver cancer: A comparative analysis
Songlian LIU ; Bo LI ; Yaping WANG ; Aiqi LU ; Chujing LI ; Lihua LIN ; Qikai NING ; Ganqiu LIN ; Pei ZHOU ; Yujuan GUAN ; Jianping LI
Journal of Clinical Hepatology 2025;41(9):1837-1844
ObjectiveTo compare the clinical features of patients with hepatitis B virus (HBV)-related early-onset liver cancer and those with late-onset liver cancer, to assess the severity of the disease, and to provide a theoretical basis for the early diagnosis and treatment of liver cancer. MethodsA retrospective analysis was performed for 695 patients who were diagnosed with HBV-related liver cancer for the first time in Guangzhou Eighth People’s Hospital, Guangzhou Medical University, from January 2019 to August 2023, among whom 93 had early-onset liver cancer (defined as an age of50 years for female patients and40 years for male patients) and 602 had late-onset liver cancer (defined as an age of ≥50 years for female patients and ≥40 years for male patients). Related clinical data were collected, including demographic data, clinical symptoms at initial diagnosis, comorbidities, smoking history, drinking history, family history, routine blood test results, biochemical parameters of liver function, serum alpha-fetoprotein(AFP), virological indicators, coagulation function, and imaging findings. The pan-inflammatory indices neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) were calculated, as well as FIB-4 index, aspartate aminotransferase-to-platelet ratio index (APRI), S index, Model for End-Stage Liver Disease (MELD) score, Child-Turcotte-Pugh (CTP) score, albumin-bilirubin (AIBL) grade, and Barcelona Clinic Liver Cancer (BCLC) stage. The independent-samples t test was used for comparison of normally distributed continuous data between two groups, and the Wilcoxon rank-sum test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test or Fisher’s exact test were used for comparison of categorical data between two groups. ResultsThere were significant differences between the two groups in the proportion of male patients and the incidence rates of diabetes, hypertension, and fatty liver disease (χ2=6.357, 15.230, 11.467, and 14.204, all P0.05), and compared with the late-onset liver cancer group, the early-onset liver cancer group had a significantly higher proportion of patients progressing to liver cancer without underlying cirrhosis (χ2=24.657, P0.001) and a significantly higher proportion of patients with advanced BCLC stage (χ2=6.172, P=0.046). For the overall population, the most common clinical symptoms included abdominal distension, abdominal pain, poor appetite, weakness, a reduction in body weight, edema of both lower limbs, jaundice, yellow urine, and nausea, and 55 patients (7.9%) had no obvious symptoms at the time of diagnosis and were found to have liver cancer by routine reexamination, physical examination suggesting an increase in AFP, or radiological examination indicating hepatic space-occupying lesion; compared with the late-onset liver cancer group, the patients in the early-onset liver cancer group were more likely to have the symptoms of abdominal distension, abdominal pain, and jaundice (all P0.05). Compared with the late-onset liver cancer group, the early-onset liver cancer group had a significantly larger tumor diameter (Z=2.845, P=0.034), with higher prevalence rates of multiple tumors and intrahepatic, perihepatic, or distant metastasis (χ2=5.889 and 4.079, both P0.05), and there were significant differences between the two groups in tumor location and size (χ2=3.948 and 11.317, both P0.05). Compared with the late-onset liver cancer group, the early-onset liver cancer group had significantly lower FIB-4 index, proportion of patients with HBsAg ≤1 500 IU/mL, and levels of LMR and Cr (all P0.05), as well as significantly higher positive rate of HBeAg and levels of log10 HBV DNA, AFP, WBC, Hb, PLT, NLR, PLR, TBil, ALT, Alb, and TC (all P0.05). ConclusionCompared with late-onset liver cancer, patients with early-onset liver cancer tend to develop liver cancer without liver cirrhosis and have multiple tumors, obvious clinical symptoms, and advanced BCLC stage, which indicates a poor prognosis.

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