1.Development and validation of a prediction score for subtype diagnosis of primary aldosteronism.
Ping LIU ; Wei ZHANG ; Jiao WANG ; Hongfei JI ; Haibin WANG ; Lin ZHAO ; Jinbo HU ; Hang SHEN ; Yi LI ; Chunhua SONG ; Feng GUO ; Xiaojun MA ; Qingzhu WANG ; Zhankui JIA ; Xuepei ZHANG ; Mingwei SHAO ; Yi SONG ; Xunjie FAN ; Yuanyuan LUO ; Fangyi WEI ; Xiaotong WANG ; Yanyan ZHAO ; Guijun QIN
Chinese Medical Journal 2025;138(23):3206-3208
2.Relationship between spindle and kinetochore-associated proteins 3, dual-specificity phosphatases 26 and prognosis of elderly patients with non-small cell lung cancer
Junjie BIAN ; Yongxian GUI ; Weihua GUO ; Yaxi SONG ; Chunhua WEI
Chinese Journal of Geriatrics 2025;44(5):603-609
Objective:To explore the relationship between spindle and kinetochore-associated protein 3(SKA3), dual-specificity phosphatase 26(DUSP26), and prognosis in elderly patients with non-small cell lung cancer(NSCLC).Methods:A retrospective analysis was conducted on case samples from elderly patients with NSCLC at Xinxiang Central Hospital between January 2020 and May 2023.During surgery, specimens of cancerous and adjacent non-cancerous tissues were collected.The expressions of SKA3 and DUSP26 in these tissues were assessed using immunohistochemistry, and their correlations with clinicopathological characteristics were analyzed.The relationship between SKA3 and DUSP26 in cancer tissues was examined using the Spearman correlation coefficient.After one year of follow-up, the association between SKA3 and DUSP26 expressions in cancer tissues and patient prognosis was evaluated using Kaplan-Meier curves, and prognostic factors were analyzed using the Cox proportional hazards model.Results:In this cohort of 145 elderly patients aged 65 to 85 years(mean age: 72.61±3.87), including 91 males, we observed that the positive expression rates of SKA3 and DUSP26 in cancer tissues were 66.21%(96/145)and 71.03%(103/145), respectively.These rates were significantly higher than those found in para-carcinoma tissues, which were 16.55%(24/145)and 13.79%(20/145), with a P-value of <0.05.Spearman correlation analysis revealed a positive correlation between SKA3 and DUSP26 expression in cancer tissues( r=0.571, P<0.001).Moreover, the proportions of low differentiation, clinical staging at stages Ⅰ-Ⅱ, and lymph node metastasis were significantly higher in the SKA3-positive group compared to the SKA3-negative group( P<0.05), and similarly, these proportions were higher in the DUSP26-positive group than in the DUSP26-negative group( P<0.05).Kaplan-Meier survival analysis indicated that after one year of follow-up, the cumulative survival rates for patients with positive expressions of SKA3 and DUSP26 were 61.46%(59/96)and 58.25%(60/103), respectively, which were significantly lower than those with negative expressions[87.76%(43/49)and 92.86%(39/42), P<0.05].Cox regression analysis identified low differentiation( HR=1.817, 95% CI: 1.294-2.550), clinical staging at stage Ⅲ( HR=1.939, 95% CI: 1.315-2.858), lymph node metastasis( HR=1.898, 95% CI: 1.350-2.670), as well as positive expressions of SKA3( HR=2.071, 95% CI: 1.317-3.257)and DUSP26( HR=2.136, 95% CI: 1.402-3.256)as significant risk factors for prognosis( P<0.05). Conclusions:The expression rates of SKA3 and DUSP26 in cancer tissues are significantly elevated in elderly patients with NSCLC.Furthermore, these two biomarkers are correlated with the degree of differentiation, clinical staging, and lymph node metastasis, indicating their potential utility in evaluating the prognosis of elderly NSCLC patients.
3.Genotype-phenotype analysis of COL2A1 and COL11A1 de novo mutations leading to Stickler syndrome types 1 and 2
Jiayu LI ; Chunhua LI ; Caihong SUN ; Wei FANG ; Xiaolong QI ; Wenjing LI ; Shaochi ZHANG ; Wen ZHANG ; Rui LI ; Wenjuan ZHUANG
Chinese Journal of Ocular Fundus Diseases 2025;41(3):186-193
Objective:To observe and analyze the clinical phenotype and genetic characteristics of COL2A1 and COL11A1 de novo mutation (DNM) related Stickler syndrome type Ⅰ and Ⅱ patients. Methods:A family-based cohort study. From December 2023 to November 2024, 4 patients (all probands) with Stickler syndrome diagnosed by clinical and genetic testing in Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region and their parents (8 cases) were included in the study. The patients came from 4 unrelated families. A detailed medical history was taken, and the patients underwent best-corrected visual acuity (BCVA), refraction, and fundus color photography examinations. Systemic examinations included the oral and facial regions, skeletal, joints, and hearing. Peripheral venous blood samples were collected from the patients and their parents, and genomic DNA was extracted. Whole-exome sequencing was used to screen for pathogenic genes and their loci, which were then validated by Sanger sequencing and combined with segregation analysis in the families to identify candidate gene mutation sites. The candidate variants were assessed for pathogenicity according to the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for the classification of genetic variants. Additionally, cross-species conservation analysis was performed to determine the evolutionary conservation of wild-type amino acids, and protein three-dimensional modeling techniques were used to characterize the spatial conformational changes of the variant proteins and the alterations in their local hydrogen bond networks.Results:Among the 4 patients, there were 2 males and 2 females; their ages ranged from 3 to 12 years. There were 2 cases of Stickler syndrome type Ⅰ (proband of families 1 and 2) and 2 cases of type Ⅱ (proband of families 3 and 4). The diopters ranged from -8.00 to-18.00 D. BCVA ranged from no light perception to 0.6 -. There were 2 cases each of vitreous membrane-like and "bead-like" opacity. Three cases showed peripapillary atrophy arcs and leopard pattern changes in the retina; one case had bilateral retinal detachment with a large macular hole in the left eye, which had previously been treated with vitrectomy surgery. One case had bilateral sensorineural hearing loss. There were 3 cases of simple micrognathia; one case had a flat nasal bridge, short nose, midface depression, and micrognathia. Two cases had excessive elbow joint extension. The phenotypes of the parents of the 4 patients were normal. Genetic testing results revealed that the probands of families 1 and 2 carried COL2A1 gene c.85+1G>C (M1) splice site variant and c.3950_3951insA (p.M1317Ifs*48) (M2) frameshift variant, respectively; the probands of families 3 and 4 carried COL11A1 gene (NM_001854.4) c.2549 G>T (p.G850V) (M3) missense variant and c.3816+6T>C (M4) splice site variant, respectively. The parents did not carry the related gene variants. Among them, M2, M3, and M4 are newly reported DNM. According to the ACMG guidelines, they were all considered likely pathogenic. The cross-species conservation analysis results showed that the wild-type amino acid of the COL11A1 gene M3 missense variant was highly conserved across multiple different species. Protein local structure modeling analysis revealed that the COL2A1 gene M2 frameshift variant and the COL11A1 gene M3 missense variant significantly altered the tertiary structure conformation of the protein, leading to abnormal spatial arrangement and hydrogen bond network in the key functional domains Conclusion:The COL2A1 gene M1 splice site variant, M2 frameshift variant, and the COL11A1 gene M3 missense variant, M4 splice site variant are respectively the potential pathogenic genes for families 1, 2, and families 3, 4; leading to the onset of Stickler syndrome type Ⅰ in families 1 and 2, and type Ⅱ in families 3 and 4.
4.Baicalein mitigates ferroptosis of neurons after subarachnoid hemorrhage
Ting ZHU ; Tingting YUE ; Yue CUI ; Yue LU ; Wei LI ; Chunhua HANG
Chinese Journal of Tissue Engineering Research 2025;29(1):52-57
BACKGROUND:Ferroptosis is a mode of programmed cell death distinct from apoptosis,necrosis,and other novel cellular deaths,which occurs mainly due to accumulated lipid peroxidation.Ferroptosis has been shown to be involved in the pathological process following subarachnoid hemorrhage.Baicalein,serving as an adept sequestered of iron,evinces its prowess by quelling lipid peroxidative cascades.Nonetheless,the enigma lingers as to whether baicalein possesses the capacity to ameliorate neuronal ferroptosis,elicited in the wake of early brain injury after subarachnoid hemorrhage. OBJECTIVE:To investigate the effect and mechanism of baicalein on neuronal ferroptosis after subarachnoid hemorrhage. METHODS:Primary neuronal cells were extracted from C57BL/6L fetal mice at 16-17 days of gestation.Hemoglobin was used to stimulate primary neuronal cells to simulate an in vitro subarachnoid hemorrhage model.The viability of primary neuronal cells treated with baicalein at concentrations of 5,15,25,50,and 100 μmol/L for 24 hours was detected by CCK-8 assay to determine the optimal concentration of baicalein.Primary neuronal cells were divided into control group,hemoglobin group,and hemoglobin+baicalein group.The levels of reactive oxygen species and malondialdehyde in cells were detected by kits.The mRNA expressions of ferroptosis-related markers PTGS2,SLC7A11,and glutathione peroxidase 4 were detected by RT-PCR.The primary neuronal cells were further divided into control group,SLC7A11 inhibitor Erastin group,hemoglobin group,hemoglobin+baicalein group,and hemoglobin+baicalein+Erastin group.The expression of the ferroptosis related markers SLC7A11 and glutathione peroxidase 4 was detected by western blot assay. RESULTS AND CONCLUSION:(1)Baicalein(25 μmol/L)was selected as the following experimental concentration.(2)Compared with the hemoglobin group,the level of malondialdehyde and the level of reactive oxygen species were significantly decreased(P<0.05)in the hemoglobin+baicalein group.(3)Compared with the hemoglobin group,the mRNA expression of PTGS2 significantly decreased,and the mRNA expression of SLC7A11 and glutathione peroxidase 4 significantly increased(P<0.000 1)in the hemoglobin+baicalein group.(4)SLC7A11 inhibitor Erastin could reverse the baicalin-improved ferroptosis effect to a certain extent(P<0.05).(5)The results showed that baicalein could alleviate the ferroptosis of neuronal cells after subarachnoid hemorrhage through the SLC7A11/GPX4 pathway.
5.Relationship between spindle and kinetochore-associated proteins 3, dual-specificity phosphatases 26 and prognosis of elderly patients with non-small cell lung cancer
Junjie BIAN ; Yongxian GUI ; Weihua GUO ; Yaxi SONG ; Chunhua WEI
Chinese Journal of Geriatrics 2025;44(5):603-609
Objective:To explore the relationship between spindle and kinetochore-associated protein 3(SKA3), dual-specificity phosphatase 26(DUSP26), and prognosis in elderly patients with non-small cell lung cancer(NSCLC).Methods:A retrospective analysis was conducted on case samples from elderly patients with NSCLC at Xinxiang Central Hospital between January 2020 and May 2023.During surgery, specimens of cancerous and adjacent non-cancerous tissues were collected.The expressions of SKA3 and DUSP26 in these tissues were assessed using immunohistochemistry, and their correlations with clinicopathological characteristics were analyzed.The relationship between SKA3 and DUSP26 in cancer tissues was examined using the Spearman correlation coefficient.After one year of follow-up, the association between SKA3 and DUSP26 expressions in cancer tissues and patient prognosis was evaluated using Kaplan-Meier curves, and prognostic factors were analyzed using the Cox proportional hazards model.Results:In this cohort of 145 elderly patients aged 65 to 85 years(mean age: 72.61±3.87), including 91 males, we observed that the positive expression rates of SKA3 and DUSP26 in cancer tissues were 66.21%(96/145)and 71.03%(103/145), respectively.These rates were significantly higher than those found in para-carcinoma tissues, which were 16.55%(24/145)and 13.79%(20/145), with a P-value of <0.05.Spearman correlation analysis revealed a positive correlation between SKA3 and DUSP26 expression in cancer tissues( r=0.571, P<0.001).Moreover, the proportions of low differentiation, clinical staging at stages Ⅰ-Ⅱ, and lymph node metastasis were significantly higher in the SKA3-positive group compared to the SKA3-negative group( P<0.05), and similarly, these proportions were higher in the DUSP26-positive group than in the DUSP26-negative group( P<0.05).Kaplan-Meier survival analysis indicated that after one year of follow-up, the cumulative survival rates for patients with positive expressions of SKA3 and DUSP26 were 61.46%(59/96)and 58.25%(60/103), respectively, which were significantly lower than those with negative expressions[87.76%(43/49)and 92.86%(39/42), P<0.05].Cox regression analysis identified low differentiation( HR=1.817, 95% CI: 1.294-2.550), clinical staging at stage Ⅲ( HR=1.939, 95% CI: 1.315-2.858), lymph node metastasis( HR=1.898, 95% CI: 1.350-2.670), as well as positive expressions of SKA3( HR=2.071, 95% CI: 1.317-3.257)and DUSP26( HR=2.136, 95% CI: 1.402-3.256)as significant risk factors for prognosis( P<0.05). Conclusions:The expression rates of SKA3 and DUSP26 in cancer tissues are significantly elevated in elderly patients with NSCLC.Furthermore, these two biomarkers are correlated with the degree of differentiation, clinical staging, and lymph node metastasis, indicating their potential utility in evaluating the prognosis of elderly NSCLC patients.
6.Genotype-phenotype analysis of COL2A1 and COL11A1 de novo mutations leading to Stickler syndrome types 1 and 2
Jiayu LI ; Chunhua LI ; Caihong SUN ; Wei FANG ; Xiaolong QI ; Wenjing LI ; Shaochi ZHANG ; Wen ZHANG ; Rui LI ; Wenjuan ZHUANG
Chinese Journal of Ocular Fundus Diseases 2025;41(3):186-193
Objective:To observe and analyze the clinical phenotype and genetic characteristics of COL2A1 and COL11A1 de novo mutation (DNM) related Stickler syndrome type Ⅰ and Ⅱ patients. Methods:A family-based cohort study. From December 2023 to November 2024, 4 patients (all probands) with Stickler syndrome diagnosed by clinical and genetic testing in Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region and their parents (8 cases) were included in the study. The patients came from 4 unrelated families. A detailed medical history was taken, and the patients underwent best-corrected visual acuity (BCVA), refraction, and fundus color photography examinations. Systemic examinations included the oral and facial regions, skeletal, joints, and hearing. Peripheral venous blood samples were collected from the patients and their parents, and genomic DNA was extracted. Whole-exome sequencing was used to screen for pathogenic genes and their loci, which were then validated by Sanger sequencing and combined with segregation analysis in the families to identify candidate gene mutation sites. The candidate variants were assessed for pathogenicity according to the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for the classification of genetic variants. Additionally, cross-species conservation analysis was performed to determine the evolutionary conservation of wild-type amino acids, and protein three-dimensional modeling techniques were used to characterize the spatial conformational changes of the variant proteins and the alterations in their local hydrogen bond networks.Results:Among the 4 patients, there were 2 males and 2 females; their ages ranged from 3 to 12 years. There were 2 cases of Stickler syndrome type Ⅰ (proband of families 1 and 2) and 2 cases of type Ⅱ (proband of families 3 and 4). The diopters ranged from -8.00 to-18.00 D. BCVA ranged from no light perception to 0.6 -. There were 2 cases each of vitreous membrane-like and "bead-like" opacity. Three cases showed peripapillary atrophy arcs and leopard pattern changes in the retina; one case had bilateral retinal detachment with a large macular hole in the left eye, which had previously been treated with vitrectomy surgery. One case had bilateral sensorineural hearing loss. There were 3 cases of simple micrognathia; one case had a flat nasal bridge, short nose, midface depression, and micrognathia. Two cases had excessive elbow joint extension. The phenotypes of the parents of the 4 patients were normal. Genetic testing results revealed that the probands of families 1 and 2 carried COL2A1 gene c.85+1G>C (M1) splice site variant and c.3950_3951insA (p.M1317Ifs*48) (M2) frameshift variant, respectively; the probands of families 3 and 4 carried COL11A1 gene (NM_001854.4) c.2549 G>T (p.G850V) (M3) missense variant and c.3816+6T>C (M4) splice site variant, respectively. The parents did not carry the related gene variants. Among them, M2, M3, and M4 are newly reported DNM. According to the ACMG guidelines, they were all considered likely pathogenic. The cross-species conservation analysis results showed that the wild-type amino acid of the COL11A1 gene M3 missense variant was highly conserved across multiple different species. Protein local structure modeling analysis revealed that the COL2A1 gene M2 frameshift variant and the COL11A1 gene M3 missense variant significantly altered the tertiary structure conformation of the protein, leading to abnormal spatial arrangement and hydrogen bond network in the key functional domains Conclusion:The COL2A1 gene M1 splice site variant, M2 frameshift variant, and the COL11A1 gene M3 missense variant, M4 splice site variant are respectively the potential pathogenic genes for families 1, 2, and families 3, 4; leading to the onset of Stickler syndrome type Ⅰ in families 1 and 2, and type Ⅱ in families 3 and 4.
7.Clinical application of ileostomy with type B suture
Longhe SUN ; Jiajie ZHOU ; Wei WANG ; Qi ZHANG ; Chunhua QIAN ; Shuai ZHAO ; Ruiqi LI ; Qiannan SUN ; Daorong WANG
Chinese Journal of General Surgery 2024;39(3):211-216
Objective:To evaluate safety and efficacy of B-type suture method ileostomy.Methods:Clinical data from 204 patients undergoing laparoscopic low anterior resection combined with protective ileostomy was analysed. Patients were divided into B-type suture ileostomy group ( n=67) and traditional ileostomy group ( n=137). Results:compared with traditional ileostomy group, B-type suture ileostomy group showed statistically significant differences in total operation time [(164±26) min vs. (172±24) min, t=2.229, P=0.027], ileostomy time [(12.7±2.3) min vs. (14.8±2.2) min, t=-6.565, P<0.001], blood loss [(57±20) ml vs. (69±31) ml, t=-2.797, P=0.006], postoperative hospital stay [(10.2±1.9) d vs. (11.8±2.3) d, t=-4.851, P<0.001], specimen incision infection rate (0 vs. 5.1%, P=0.047), postoperative body pain [82 (79-84) vs. 78 (76-80), Z=-5.805, P<0.001], and ileostomy incorporation time [(46±11) min vs. (51±12) min, t=-2.540, P=0.012]. Conclusion:B-type suture ileostomy for prophylactic ileostomy in laparoscopic low anterior resection for rectal cancer is safe and feasible.
8.Combining balloon catheter expansion with swallowing training can better improve the swallowing of tracheotomy patients after pontine hemorrhage
Fangzhen CAO ; Min LIU ; Chunhua ZHANG ; Wei LU ; Shanshan WANG ; Chuan HU ; Xin WANG
Chinese Journal of Physical Medicine and Rehabilitation 2024;46(1):13-16
Objective:To observe any effect of supplementing basic swallowing training with balloon catheter dilation on the swallowing function of tracheostomy patients with pontine hemorrhage.Methods:A total of 40 pontine hemorrhage patients with tracheostomy and swallowing disorders were divided randomly into an observation group and a control group, each of 20. Both groups were given nutritional neurodrugs and basic swallowing training, but the observation group also received 25 minutes of balloon catheter dilation, five times a week for 6 weeks. Before and after the 6 weeks of treatment one swallowing therapist evaluated the feeding ability and leakage-aspiration status of each subject assigning functional oral intake (FOIS) ratings and Rosenbek Leakage/Aspiration Rating Scale (PAS) ratings double-blinded. The Watian water swallowing test was also applied.Results:After the treatment the average FOIS and PAS scores of both groups had improved significantly, with those of the observation group then significantly better than among the control group on average. The total treatment effectiveness rate was 70% in the observation group, significantly better than the 30% in the control group.Conclusion:Supplementing swallowing training with balloon catheter dilation can better improve the swallowing of patients recovering from a tracheotomy after pontine hemorrhage.
9.Effect of LPCAT1 on biological behavior of cervical cancer based on β-catenin/Slug signaling pathway
Chunli SHI ; Guihua ZHOU ; Wei CHEN ; Xiaoling WU ; Hong LU ; Chunhua LIN
Chinese Journal of Clinical and Experimental Pathology 2024;40(3):285-290
Purpose To observation the relationship be-tween the β-catenin/Slug signal specific inhibitor FH535 and EMT,and to explore the role of LPCAT1 in regulating the inva-sion,metastasis,and growth of cervical cancer cells.Methods Hela cells were transfected with sh-NC and sh-LPCAT1,and SiHa cells were transfected with Vector group and LPCAT1 over-expression plasmid.SiHa cells were divided into control group(Con),LPCAT1 group,LPCAT1+FH535 group and FH535 group.The proliferation of cervical cancer cells was detected by CCK-8 analysis and colony formation test.The metastasis and invasion ability of cervical cancer cells were detected by wound healing test and Transwell test.Western blot was used to analyze the expression of LPCAT1,β-catenin/Slug signaling pathway and EMT-related proteins in cells.Results Compared with Vector group,the cell viability,colony number,migration and invasion number of SiHa cells in LPCAT1 group increased signif-icantly(P<0.05).Compared with sh-NC group,the cell via-bility,colony number,migration and invasion number of Hela cells in sh-LPCAT1 group decreased significantly(P<0.05).Compared with LPCAT1 group,the levels of Wnt4(1.18±0.05 vs 0.80±0.06),β-catenin(1.05±0.08 vs 0.77±0.05),Slug(1.13±0.06 vs 0.28±0.02),Cyclin D1(0.99±0.06 vs 0.44±0.02),N-cadherin(0.91±0.07 vs 0.46±0.03)and vimentin(0.95±0.06 vs 0.49±0.03)in SiHa cells in LPCAT1+FH535 group decreased significantly(P<0.05),and the level of E-cadherin(0.44±0.03 vs 0.58±0.03)in-creased significantly(P<0.05).In addition,compared with LPCAT1 group,the number of colonies(224±15 vs 146±11),migration(85±3vs51±4)and invasive(166±10 vs 90±5)cells of SiHa cells in LPCAT1+FH535 group decreased signifi-cantly(P<0.05).Conclusion The increase of LPCAT1 ex-pression may promote the metastasis and progress of CC by acti-vating β-catenin/Slug signaling pathway,and LPCAT1 may be a potential marker for predicting CC metastasis.
10.Expert Consensus on Standard Terminology for Hair Transplantation (2024 Edition)
Yong MIAO ; Wei WU ; Zhenyu GONG ; Wenjie JIANG ; Yufei LI ; Zhiqi HU ; Hua XIAN ; Xiang XIE ; Weiqi YANG ; Dongyi ZHANG ; Jufang ZHANG ; Jiaxian ZHANG ; Chunhua ZHANG ; HAIR TRANSPLANTATION EXPERT GROUP OF PLASTIC AND AESTHETIC NATIONAL MEDICAL QUALITY CONTROL CENTER
Medical Journal of Peking Union Medical College Hospital 2024;15(6):1301-1310
In order to promote the development of hair transplantation, particularly the establishment of standards, the Hair Transplantation Expert Group of Plastic and Aesthetic National Medical Quality Control Center invited experts in the field of hair transplantation across China and formed a draft of the

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