1.Value of albumin-to-alkaline phosphatase ratio with modified Glasgow prognostic score in assessing response and prognosis of non-muscle invasive bladder cancer patients undergoing intravesical BCG therapy
Kunpeng XIE ; Tianyu ZHANG ; Donglai LIU ; Yongjie MIAO ; Renfu CHEN
Journal of Modern Urology 2025;30(10):881-888
Objective To explore the value of the albumin-to-alkaline phosphatase ratio(AAPR)with modified Glasgow prognostic score(mGPS)in assessing the response to and prognosis of intravesical Bacillus Calmette-Guérin(BCG)therapy in patients with non-muscle invasive bladder cancer(NMIBC).Methods A total of 153 high-risk NMIBC patients treated with intravesical BCG in our hospital during Jan.2018 and Oct.2021 were enrolled.Patients were divided into response and non-response groups based on the treatment efficacy,and into good and poor prognosis groups based on the clinical outcomes.AAPR and mGPS were calculated.The relationship between AAPR,mGPS and BCG treatment non-response was analyzed with multivariate logistic regression.Clinical data and scores were compared between prognosis groups.The associations between AAPR,mGPS,and poor prognosis after BCG treatment were assessed with a Cox proportional hazards model.Patients were stratified into high-and low-A APR groups,and into mGPS 0,1,and 2 groups.Kaplan-Meier survival curves were plotted for progression-free survival(PFS)across different AAPR and mGPS strata.The diagnostic performance of AAPR combined with mGPS in predicting treatment non-response and poor prognosis was evaluated using receiver operating characteristic(ROC)curves.Results Among the 153 patients,the response rate to BCG treatment was 71.90%(110/153),the 3-year poor prognosis rate was 45.75%(70/153),and the 3-year PFS rate was 54.25%(83/153).Increased AAPR was identified as an independent protective factor for both treatment response and good prognosis,while higher mGPS was an independent risk factor(P<0.05).The 3-year PFS rate was significantly higher in the high-AAPR group than in the low-A APR group(P<0.001).Among the mGPS groups,the 3-year PFS rate was lowest in the mGPS 2 group,followed by mGPS 1 and mGPS 0 groups(P<0.001).The area under the ROC curve(AUC)for AAPR with mGPS in predicting BCG treatment non-response and poor prognosis was 0.864 and 0.901,respectively,significantly higher than using AAPR(0.774,0.781)or mGPS alone(0.798,0.809)(P<0.05).Conclusion Lower AAPR and higher mGPS are associated with non-response and poor prognosis in NMIBC patients undergoing intravesical BCG therapy.The combination of AAPR and mGPS has high predictive value.
2.Value of albumin-to-alkaline phosphatase ratio with modified Glasgow prognostic score in assessing response and prognosis of non-muscle invasive bladder cancer patients undergoing intravesical BCG therapy
Kunpeng XIE ; Tianyu ZHANG ; Donglai LIU ; Yongjie MIAO ; Renfu CHEN
Journal of Modern Urology 2025;30(10):881-888
Objective To explore the value of the albumin-to-alkaline phosphatase ratio(AAPR)with modified Glasgow prognostic score(mGPS)in assessing the response to and prognosis of intravesical Bacillus Calmette-Guérin(BCG)therapy in patients with non-muscle invasive bladder cancer(NMIBC).Methods A total of 153 high-risk NMIBC patients treated with intravesical BCG in our hospital during Jan.2018 and Oct.2021 were enrolled.Patients were divided into response and non-response groups based on the treatment efficacy,and into good and poor prognosis groups based on the clinical outcomes.AAPR and mGPS were calculated.The relationship between AAPR,mGPS and BCG treatment non-response was analyzed with multivariate logistic regression.Clinical data and scores were compared between prognosis groups.The associations between AAPR,mGPS,and poor prognosis after BCG treatment were assessed with a Cox proportional hazards model.Patients were stratified into high-and low-A APR groups,and into mGPS 0,1,and 2 groups.Kaplan-Meier survival curves were plotted for progression-free survival(PFS)across different AAPR and mGPS strata.The diagnostic performance of AAPR combined with mGPS in predicting treatment non-response and poor prognosis was evaluated using receiver operating characteristic(ROC)curves.Results Among the 153 patients,the response rate to BCG treatment was 71.90%(110/153),the 3-year poor prognosis rate was 45.75%(70/153),and the 3-year PFS rate was 54.25%(83/153).Increased AAPR was identified as an independent protective factor for both treatment response and good prognosis,while higher mGPS was an independent risk factor(P<0.05).The 3-year PFS rate was significantly higher in the high-AAPR group than in the low-A APR group(P<0.001).Among the mGPS groups,the 3-year PFS rate was lowest in the mGPS 2 group,followed by mGPS 1 and mGPS 0 groups(P<0.001).The area under the ROC curve(AUC)for AAPR with mGPS in predicting BCG treatment non-response and poor prognosis was 0.864 and 0.901,respectively,significantly higher than using AAPR(0.774,0.781)or mGPS alone(0.798,0.809)(P<0.05).Conclusion Lower AAPR and higher mGPS are associated with non-response and poor prognosis in NMIBC patients undergoing intravesical BCG therapy.The combination of AAPR and mGPS has high predictive value.
3.Evaluation of the efficacy of a customized surgical approach for congenital optic disc pit with maculopathy
Haiyan ZHU ; Ju GUO ; Pengyi ZHOU ; Qianqian ZHAI ; Bo JIN ; Kunpeng XIE ; Liping DU ; Xuemin JIN
Chinese Journal of Ocular Fundus Diseases 2025;41(5):386-392
Objective:To observe the curative effect of a personalized surgical scheme based on scanning source optical coherence tomography (SS-OCT) image features in the treatment of congenital optic disc pit (ODP) with maculopathy (ODP-M).Methods:A prospective interventional cohort study. From September 2019 to May 2024, 15 patients with 15 eyes who were diagnosed with ODP-M by ophthalmology examination in Department of Ophthalmonogy of The First Affiliated Hospital of Zhengzhou University were included in the study. Best corrected visual acuity (BCVA) and SS-OCT were performed in all affected eyes. Standard E word visual acuity chart was used for BCVA examination, which was converted into logarithm of the minimum angle of resolution (logMAR) BCVA for record. The center retinal thickness (CRT) was measured by SS-OCT examination of macular area using VG200D of Henan SVision Imaging Technology Co., LTD. According to the morphological characteristics of ODP and the splitting, edema and detachment of macular region, combined with the degree of pulling of the boundary membrane between the posterior vitreous cortex and macular region, a personalized surgical method was designed. Class I: pars plana vitrectomy combined with macular boundary film stripping, ODP boundary film packing and vitreous cavity gas filling. Class Ⅱ: pars plana vitrectomy combined with non-retained macular boundary film stripping or ODP inner boundary film packing, vitreous cavity gas filling. Class Ⅰ and Class Ⅱ operations were performed in 10 and 5 eyes of 15 eyes, respectively. The postoperative follow-up time was >6 months. Follow-up time was performed with the same equipment before surgery. BCVA changes, CRT reduction rate and complications were observed. BCVA and CRT were compared before and after operation by paired sample t test. Results:There were 15 eyes in 15 cases, 4 eyes in 4 males and 11 eyes in 11 females. The age was (28.87±16.5) years. logMAR BCVA of the affected eye was 0.94±0.51. CRT was (697.80±301.80) μm. At the last follow-up, the logMAR BCVA was 0.53±0.49. CRT was (392.53±167.55) μm. Compared with before operation, BCVA and CRT were significantly improved, and the difference was statistically significant ( t=3.23, 3.25; P=0.006, 0.006). After surgery, transient intraocular hypertension occurred in 2 eyes, and the intraocular pressure returned to normal level after 3 to 7 days without special treatment. Two eyes underwent an unexpected second operation. Among them, one eye underwent Class Ⅰ surgery, the tunnel at ODP was closed after surgery, and there was a small amount of subretinal fluid in the macular area. Class Ⅱ surgery was performed in 1 eye with retinal reattachment. Conclusion:Personalized surgical treatment of ODP-M based on SS-OCT image features can reduce CRT and improve visual acuity.
4.Evaluation of the efficacy of a customized surgical approach for congenital optic disc pit with maculopathy
Haiyan ZHU ; Ju GUO ; Pengyi ZHOU ; Qianqian ZHAI ; Bo JIN ; Kunpeng XIE ; Liping DU ; Xuemin JIN
Chinese Journal of Ocular Fundus Diseases 2025;41(5):386-392
Objective:To observe the curative effect of a personalized surgical scheme based on scanning source optical coherence tomography (SS-OCT) image features in the treatment of congenital optic disc pit (ODP) with maculopathy (ODP-M).Methods:A prospective interventional cohort study. From September 2019 to May 2024, 15 patients with 15 eyes who were diagnosed with ODP-M by ophthalmology examination in Department of Ophthalmonogy of The First Affiliated Hospital of Zhengzhou University were included in the study. Best corrected visual acuity (BCVA) and SS-OCT were performed in all affected eyes. Standard E word visual acuity chart was used for BCVA examination, which was converted into logarithm of the minimum angle of resolution (logMAR) BCVA for record. The center retinal thickness (CRT) was measured by SS-OCT examination of macular area using VG200D of Henan SVision Imaging Technology Co., LTD. According to the morphological characteristics of ODP and the splitting, edema and detachment of macular region, combined with the degree of pulling of the boundary membrane between the posterior vitreous cortex and macular region, a personalized surgical method was designed. Class I: pars plana vitrectomy combined with macular boundary film stripping, ODP boundary film packing and vitreous cavity gas filling. Class Ⅱ: pars plana vitrectomy combined with non-retained macular boundary film stripping or ODP inner boundary film packing, vitreous cavity gas filling. Class Ⅰ and Class Ⅱ operations were performed in 10 and 5 eyes of 15 eyes, respectively. The postoperative follow-up time was >6 months. Follow-up time was performed with the same equipment before surgery. BCVA changes, CRT reduction rate and complications were observed. BCVA and CRT were compared before and after operation by paired sample t test. Results:There were 15 eyes in 15 cases, 4 eyes in 4 males and 11 eyes in 11 females. The age was (28.87±16.5) years. logMAR BCVA of the affected eye was 0.94±0.51. CRT was (697.80±301.80) μm. At the last follow-up, the logMAR BCVA was 0.53±0.49. CRT was (392.53±167.55) μm. Compared with before operation, BCVA and CRT were significantly improved, and the difference was statistically significant ( t=3.23, 3.25; P=0.006, 0.006). After surgery, transient intraocular hypertension occurred in 2 eyes, and the intraocular pressure returned to normal level after 3 to 7 days without special treatment. Two eyes underwent an unexpected second operation. Among them, one eye underwent Class Ⅰ surgery, the tunnel at ODP was closed after surgery, and there was a small amount of subretinal fluid in the macular area. Class Ⅱ surgery was performed in 1 eye with retinal reattachment. Conclusion:Personalized surgical treatment of ODP-M based on SS-OCT image features can reduce CRT and improve visual acuity.
5.Application effect analysis of artificial intelligence automatic diagnosis system for diabetic retinopathy in elderly diabetic patients in community and hospital
Shuai MING ; Xi YAO ; Kunpeng XIE ; Yingrui YANG ; Xuemin JIN ; Bo LEI
Chinese Journal of Ocular Fundus Diseases 2022;38(2):120-125
Objective:To study the efficiency and difference of the artificial intelligence (AI) system based on fundus-reading in community and hospital scenarios in screening/diagnosing diabetic retinopathy (DR) among aged population, and further evaluate its application value.Methods:A combination of retrospective and prospective study. The clinical data of 1 608 elderly patients with diabetes were continuously treated in Henan Eye Hospital & Henan Eye Institute from July 2018 to March 2021, were collected. Among them, there were 659 males and 949 females; median age was 64 years old. From December 2018 to April 2019, 496 elderly diabetes patients were prospectively recruited in the community. Among them, there were 202 males and 294 female; median age was 62 years old. An ophthalmologist or a trained endocrinologist performed a non-mydriatic fundus color photographic examination in both eyes, and a 45° frontal radiograph was taken with the central fovea as the central posterior pole. The AI system was developed based on the deep learning YOLO source code, AI system based on the deep learning algorithm was applied in final diagnosis reporting by the"AI+manual-check" method. The diagnosis of DR were classified into 0-4 stage. The 2-4 stage patients were classified into referral DR group.Results:A total of 1 989 cases (94.5%, 1 989/2 104) were read by AI, of which 437 (88.1%, 437/496) and 1 552 (96.5%, 1 552/1 608) from the community and hospital, respectively. The reading rate of AI films from community sources was lower than that from hospital sources, and the difference was statistically significant ( χ2=51.612, P<0.001). The main reasons for poor image quality in the community were small pupil (47.1%, 24/51), cataract (19.6%, 10/51), and cataract combined with small pupil (21.6%, 11/51). The total negative rate of DR was 62.4% (1 241/1 989); among them, the community and hospital sources were 84.2% and 56.3%, respectively, and the AI diagnosis negative rate of community source was higher than that of hospital, and the difference was statistically significant ( χ2=113.108, P<0.001). AI diagnosis required referral to DR 20.2% (401/1 989). Among them, community and hospital sources were 6.4% and 24.0%, respectively. The rate of referral for DR for AI diagnosis from community sources was lower than that of hospitals, and the difference was statistically significant ( χ2=65.655, P<0.001). There was a statistically significant difference in the composition ratio of patients with different stages of DR diagnosed by AI from different sources ( χ2=13.435, P=0.001). Among them, community-derived patients were mainly DR without referral (52.2%, 36/69); hospital-derived patients were mainly DR requiring referral (54.9%, 373/679), and the detection rate of treated DR was higher (14.3%). The first rank of the order of the fundus lesions number automatically identified by AI was drusen (68.4%) and intraretinal hemorrhage (48.5%) in the communities and hospitals respectively. Conclusions:It is more suitable for early and negative DR screening for its high non-referral DR detection rate in the community. Whilst referral DR were mainly found in hospital scenario.
6.Clinical value of lymph node dissection for intrahepatic cholangiocarcinoma
Junwu GUO ; Binghua DAI ; Kunpeng FANG ; Yijun ZHAO ; Zhitao DONG ; Hengmei ZHU ; Chengjun SUI ; Feng XIE ; Li GENG
Chinese Journal of Hepatobiliary Surgery 2022;28(3):202-205
Objective:To evaluate the clinical value of lymph node dissection (LND) for intrahepatic cholangiocarcinoma (ICC) after surgical resection.Methods:A retrospective study was conducted on the clinical data of 156 patients who underwent surgery for ICC in Eastern Hepatobiliary Surgery Hospital of Naval Military Medical University from November 2010 to December 2017, including 94 males and 62 females, aged (60.0±9.5) years. Curative surgery was performed in 114 cases. Of 64 cases were in stage Ⅰ according to American Joint Committee on Cancer (AJCC), including 38 cases of non-lymph node dissection (NLND) and 26 cases of LND; 21 cases were in AJCC stage Ⅱ, including 11 cases of NLND and 10 cases of LND; 22 cases were in AJCC stage Ⅲb, including 14 cases of LND and 8 cases of lymph node resection (LNR); 5 cases were in AJCC stage Ⅲa, 2 cases were in AJCC stage Ⅳ. Univariate and multivariate Cox regression analysis were used for the risk factors of ICC prognosis. The log-rank test compared the survival rates of the two groups.Results:Cox multivariate analysis indicated that lymph node metastasis was independent risk factors for prognosis in patients with ICC ( HR=1.96, 95% CI: 1.09-3.55, P=0.026). A total of 114 patients were included in the curative surgery group. The 1-, 3-, and 5-year overall survival (OS) rates of the negative lymph node group ( n=91) were 65.9%, 47.3% and 35.6%, respectively, which were significantly better than those of the positive lymph node group ( n=23) who had 1-, 3-, 5-year OS rates of 56.5%, 17.7% and 0, respectively (χ 2=8.11, P=0.004 ). In stage Ⅰ and Ⅱ patients, there were no significant differences in 1-, 3-, 5-year OS rates between the NLND group and the LND group (both P>0.05 ). In stage Ⅲb patients, the LND group had 1-, 3-, 5-year OS rates of 71.4%, 29.8% and 0, respectively, significantly better than those of the LNR group who had 1-, 3-, 5-year OS rates of 37.5%, 0 and 0, respectively (χ 2=6.45, P=0.011). Conclusions:Lymph node metastasis is an independent risk factor affecting the prognosis of ICC. Lymph node dissection should be performed cautiously in ICC with AJCC stage Ⅰ and Ⅱ, while routine lymph node dissection is recommended in ICC with AJCC stage Ⅲb.
7.Analysis of choroidal thickness and blood perfusion in idiopathic macular hole eye
Haiyan ZHU ; Ju GUO ; Pengyi ZHOU ; Bo JIN ; Kunpeng XIE ; Liping DU ; Xuemin JIN
Chinese Journal of Ocular Fundus Diseases 2022;38(9):755-761
Objective:To observe and analyze the macular choroidal thickness and choroidal blood perfusion (CBP) in eyes with idiopathic macular hole (IMH) and their correlation.Methods:A cross-sectional observational clinical study. From March 2019 to October 2021, 60 IMH patients with 60 eyes (IMH group) and 60 healthy volunteers with 60 eyes (control group) who consecutively visited Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University were included in the study. Among the 60 eyes in the IMH group, 8, 8, 15, and 29 eyes were at stage Ⅰ, Ⅱ, Ⅲ, and Ⅳ, respectively. There was no significant difference in age, spherical equivalent power and axial length between the two groups ( t=1.327, 0.157, 0.542; P>0.05). The average macular choriodal thickness (AMCT) and CBP in different regions of the macular region of the examined eye were measured using a swept-frequency light source optical coherence tomography scanner. According to the zoning method for the treatment of diabetic retinopathy, the choroid within 6 mm of the fovea was divided into 3 concentric circles with the fovea as the center. They are the central area with a diameter of 1 mm, the inner ring area of 1-3 mm, and the outer ring area of 3-6 mm; the inner ring area and the outer ring area were divided into 4 areas by 2 radiations respectively, including the upper part of the inner superior (IS), the lower part of the inner inferior (Ⅱ ), and the nasal side of the inner nasal (IN), inner temporal (IT), outer superior (OS), outer inferior (OI), outer nasal (ON), outer temporal (OT), a total of 9 regions. The distribution characteristics of AMCT and CBP in different regions were observed. The correlation between AMCT and CBP was analyzed by Pearson correlation; the correlation between AMCT, CBP and IMH stage was analyzed by Spearman correlation. Results:Compared with the eyes of the control group, the AMCT of the affected eyes in the IMH group was significantly thinner in all areas of the macula, and the difference was statistically significant ( t=2.378, 4.641, 2.888, 3.390, 3.575, 4.870, 4.077, 4.946, 4.578; P<0.05). Compared with the control group, the CBP in the OS and OT regions of the affected eyes in the IMH group was significantly lower, the difference was statistically significant ( t=3.424, 4.516; P<0.05). The results of Pearson correlation analysis showed that there was a significant positive correlation between AMCT and CBP in the OT region ( r=0.314, P<0.001). Spearman correlation analysis showed that there was a significant positive correlation between AMCT and IMH staging in each region ( r=0.375, 0.374, 0.289, 0.379, 0.441, 0.392, 0.303, 0.341, 0.292; P<0.05). There was no significant correlation between CBP and IMH staging in IN, OI and OT regions ( r=-0.138, -0.016, -0.221; P>0.05); CBP and IMH staging in other regions were significantly negatively correlated ( r=-0.560, -0.390,-0.819, -0.692, -0.329, -0.587; P<0.05). Conclusions:The choroidal thickness in the macular region of the eyes with IMH is significantly thinner than that of the normal subjects; there is choroidal hypoperfusion in local areas. There is a significant positive correlation between local regional AMCT and CBP; IMH stage is higher, the trend of AMCT in each region is thickening, and the CBP in most regions decrease.
8.Status of HVPG clinical application in China in 2021
Wen ZHANG ; Fuquan LIU ; Linpeng ZHANG ; Huiguo DING ; Yuzheng ZHUGE ; Jitao WANG ; Lei LI ; Guangchuan WANG ; Hao WU ; Hui LI ; Guohong CAO ; Xuefeng LU ; Derun KONG ; Lin SUN ; Wei WU ; Junhui SUN ; Jiangtao LIU ; He ZHU ; Dongliang LI ; Wuhua GUO ; Hui XUE ; Yu WANG ; Jiancuo GENGZANG ; Tian ZHAO ; Min YUAN ; Shirong LIU ; Hui HUAN ; Meng NIU ; Xin LI ; Jun MA ; Qingliang ZHU ; Wenbo GUO ; Kunpeng ZHANG ; Xiaoliang ZHU ; Birun HUANG ; Jianan LI ; Weidong WANG ; Hongfeng YI ; Qi ZHANG ; Long GAO ; Guo ZHANG ; Zhongwei ZHAO ; Kai XIONG ; Zexin WANG ; Hong SHAN ; Mingsheng LI ; Xueqiang ZHANG ; Haibin SHI ; Xiaogang HU ; Kangshun ZHU ; Zhanguo ZHANG ; Hong JIANG ; Jianbo ZHAO ; Mingsheng HUANG ; Wenyong SHEN ; Lin ZHANG ; Feng XIE ; Zhiwei LI ; Changlong HOU ; Shengjuan HU ; Jianwei LU ; Xudong CUI ; Ting LU ; Shaoqi YANG ; Wei LIU ; Junping SHI ; Yanming LEI ; Jinlun BAO ; Tao WANG ; Weixin REN ; Xiaoli ZHU ; Yong WANG ; Lei YU ; Qiang YU ; Huiling XIANG ; Wenqiang LUO ; Xiaolong QI
Chinese Journal of Hepatology 2022;30(6):637-643
Objective:The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China.Methods:This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems.Results:According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%).Conclusion:Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.
9.Expression levels of high mobility group box protein 1, tumor necrosis factor-α and interleukin-6 and their clinical significance in elderly patients with viral pneumonia
Wentao WU ; Kunpeng WEI ; Wenhong CHEN ; Yunru CHEN ; Jianshe FAN ; Ke WANG ; Yiqiang XIE ; Shizhi WANG ; Hongbo ZHANG
Chinese Journal of Geriatrics 2021;40(5):591-595
Objective:To investigate high mobility group protein 1(HMGB1), tumor necrosis factor-α(TNF-α)and interleukin-6(IL-6)levels and their clinical significance in elderly patients with viral pneumonia.Methods:One hundred and sixty elderly patients with viral pneumonia admitted to the Sixth Hospital Affiliated to Anhui Medical University were enrolled as research subjects.In addition, 40 elderly people who underwent regular physical examination were considered as the control group.Patients with viral pneumonia were divided into the low-risk group, middle-risk group and high-risk group according to CURB-65 scores and pneumonia severity index(PSI)scores.HMGB1, TNF-α and IL-6 levels were compared between different groups.The correlations of CURB-65 scores and PSI scores with HMGB1, TNF-α, IL-6 levels were analyzed.Multivariate Logistic regression analysis was used to examine influencing factors for the severity of viral pneumonia in elderly patients.Results:HMGB1, TNF-α and IL-6 levels were higher in research subjects than in the control group.As the severity of viral pneumonia increased, so did HMGB1, TNF-α and IL-6 levels(all P<0.05). HMGB1, TNF-α and IL-6 levels in the severe viral pneumonia group were significantly higher than those in the non-severe viral pneumonia group( P<0.05). HMGB1, TNF-α and IL-6 levels were positively correlated with CURB-65 scores and PSI scores(CURB-65 score: r=0.463, 0.392 and 0.497, P=0.015, 0.003 and 0.025; PSI score: r=0.596, 0.515 and 0.381, P=0.007, 0.011 and 0.009). HMGB1, TNF-α and IL-6 levels were influencing factors for the severity of viral pneumonia in elderly patients( OR=1.344, 1.422 and 1.351, P=0.006, 0.015 and 0.009). Conclusions:HMGB1, TNF-α and IL-6 levels are closely correlated with the severity of viral pneumonia and are helpful for early assessment of viral pneumonia.
10.Analysis of BEST1 gene mutation and clinical phenotype in two families with Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy
Meng PAN ; Kunpeng XIE ; Liping DU ; Pengyi ZHOU ; Xuemin JIN
Chinese Journal of Ocular Fundus Diseases 2021;37(11):841-847
Objective:To report the BEST1 gene mutations and clinical phenotypes in two pedigrees with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). Methods:A retrospective clinical study. From November 2019 to March 2021, in the Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University, the BVMD family (4 patients and 6 family members) and the ARB family (2 patients, 2 family members), a total of 6 patients and 8 normal family members were included in the study. Detailed medical history was obtained; best corrected visual acuity, fundus color photography, electrophysiology, optical coherence tomography and fundus autofluorescence examination were performed. The clinical characteristics for all patients in the two families were analyzed. Three milliliter peripheral venous blood of all participants in the family was collected, and the whole genomic DNA was extracted with gene sequencing using next-generation sequencing technology based on targeted capture. Compared with the database to identify the pathogenicity mutation sites, suspected pathogenic mutation sites were selected, then mutations in other members in the family was assayed by Sanger sequencing.Results:In family 1, the proband was demonstrated as typical BVMD, other patients were multifocal vitelliform macular dystrophy. The DNA sequencing result showed that all the 4 patients carried heterozygous missense mutations in exon 3 of BEST1 gene: c.240C>G (p.F80L) (M1) and 2 members carried this mutation, but without clinical phenotype. M1 was a likely-pathogenic mutation reported for the first time. In family 2, the proband and the other patient were diagnosed as ARB. The DNA result showed that the 2 patients carried heterozygous missense mutations in exon 5 and exon 2 of BEST1 gene: c.584C>T (p.A195V) (M2)、c.139C>A (p.R47S) (M3), and a heterozygous frameshift mutation in exon 3 of BEST1 gene: c.235dupT (p.S79Ffs*153) (M4). M2 was a pathogenic mutation reported previously. M3 variant was of undetermined significance. M4 was a first reported pathogenic mutation. Conclusions:The BEST1 gene mutation is the main cause of BVMD and ARB. Different mutation sites have different clinical phenotypes. BVMD and ARB have genetic and clinical heterogeneity.

Result Analysis
Print
Save
E-mail