1.A Case of Recurrent Abdominal Pain and Multiple-Region Edema:Multidisciplinary Treatment
Zhoulin HUANG ; Haiyuan MA ; Yujin YE ; Hui ZHOU ; Xuehua LI ; Yanbing LIANG ; Zhihui CHEN ; Baili CHEN
JOURNAL OF RARE DISEASES 2025;4(2):208-213
Hereditary angioedema(HAE)is a rare autosomal dominant disorder characterized by recur-rent,unpredictable episodes of skin and mucosal edema,which may affect the face,extremities,respiratory tract,gastrointestinal tract,and genitals,with a global prevalence of approximately 1 in 50 000.This case re-port presents a young female patient with a history of recurrent abdominal pain and multisite edema.During an acute episode,laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor.Computed tomography(CT)demonstrated bowel wall edema and pelvic effu-sion.Previously undiagnosed,the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital.The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.
2.Efficacy and safety of tegoprazan (LXI-15028) vs. esomeprazole in patients with erosive esophagitis: A multicenter, randomized, doubleblind, non-inferiority phase Ⅲ trial
Huiyun ZHU ; Qian XUE ; Yingxiao SONG ; Zhenyu ZHANG ; Xing LI ; Shengxiang LYU ; Qiang ZHAN ; Fei LIU ; Lungen LU ; Liang ZHONG ; Weixing CHEN ; Dong SHAO ; Yanbing DING ; Deliang LIU ; Xiaozhong YANG ; Zhiming HUANG ; Zhaoshen LI ; Yiqi DU
Chinese Medical Journal 2025;138(19):2464-2471
Background::An evidence gap still exists regarding the efficacy and safety of tegoprazan in patients with erosive esophagitis (EE) in China. This study aimed to verify the efficacy and safety of tegoprazan vs. esomeprazole in patients with EE in China. Methods::This study was a multicenter, randomized, double-blind, parallel, active-controlled, non-inferiority phase III trial of patients with EE randomized 1:1 to tegoprazan 50 mg/day vs. esomeprazole 40 mg/day. This study was conducted in 32 sites between October 24, 2018 and October 18, 2019. The primary endpoint was the cumulative endoscopic healing rate at week 8. The secondary endpoint included endoscopic healing rate at week 4, changes in the reflux disease questionnaire (RDQ) and gastroesophageal reflux disease health-related quality of life (GERD-HRQL) scores, and symptom improvement. Results::A total of 261 patients were randomized: 132 to the tegoprazan group and 129 to the esomeprazole group. The cumulative endoscopic healing rate at 8 weeks in the tegoprazan group was non-inferior to that of the esomeprazole group (91.1% vs. 92.8%, difference: -1.7%, 95% confidence interval [CI]: -8.5%, 5.0%, P = 0.008). There were no statistically significant differences in the changes in RDQ (total, severity, and frequency) and GERD-HRQL scores between the two groups (all P >0.05). The percentages of days without symptoms, including daytime and nighttime symptoms based on patients' diaries, were similar between the two groups (all P >0.05). In the tegoprazan and esomeprazole groups, 71.5% (93/130) and 61.7% (79/128) of the participants reported adverse events (AEs), 2.3% and 0 experienced serious AEs, while 70.0% and 60.2% had treatment-emergent AEs, respectively. Conclusion::Tegoprazan 50 mg/day demonstrated non-inferior efficacy in healing EE, symptom improvement, and quality of life, and it has similar tolerability compared with esomeprazole 40 mg/day.
3.A Case of Recurrent Abdominal Pain and Multiple-Region Edema:Multidisciplinary Treatment
Zhoulin HUANG ; Haiyuan MA ; Yujin YE ; Hui ZHOU ; Xuehua LI ; Yanbing LIANG ; Zhihui CHEN ; Baili CHEN
JOURNAL OF RARE DISEASES 2025;4(2):208-213
Hereditary angioedema(HAE)is a rare autosomal dominant disorder characterized by recur-rent,unpredictable episodes of skin and mucosal edema,which may affect the face,extremities,respiratory tract,gastrointestinal tract,and genitals,with a global prevalence of approximately 1 in 50 000.This case re-port presents a young female patient with a history of recurrent abdominal pain and multisite edema.During an acute episode,laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor.Computed tomography(CT)demonstrated bowel wall edema and pelvic effu-sion.Previously undiagnosed,the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital.The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.
4.Efficacy and safety of tegoprazan (LXI-15028) vs. esomeprazole in patients with erosive esophagitis: A multicenter, randomized, doubleblind, non-inferiority phase Ⅲ trial
Huiyun ZHU ; Qian XUE ; Yingxiao SONG ; Zhenyu ZHANG ; Xing LI ; Shengxiang LYU ; Qiang ZHAN ; Fei LIU ; Lungen LU ; Liang ZHONG ; Weixing CHEN ; Dong SHAO ; Yanbing DING ; Deliang LIU ; Xiaozhong YANG ; Zhiming HUANG ; Zhaoshen LI ; Yiqi DU
Chinese Medical Journal 2025;138(19):2464-2471
Background::An evidence gap still exists regarding the efficacy and safety of tegoprazan in patients with erosive esophagitis (EE) in China. This study aimed to verify the efficacy and safety of tegoprazan vs. esomeprazole in patients with EE in China. Methods::This study was a multicenter, randomized, double-blind, parallel, active-controlled, non-inferiority phase III trial of patients with EE randomized 1:1 to tegoprazan 50 mg/day vs. esomeprazole 40 mg/day. This study was conducted in 32 sites between October 24, 2018 and October 18, 2019. The primary endpoint was the cumulative endoscopic healing rate at week 8. The secondary endpoint included endoscopic healing rate at week 4, changes in the reflux disease questionnaire (RDQ) and gastroesophageal reflux disease health-related quality of life (GERD-HRQL) scores, and symptom improvement. Results::A total of 261 patients were randomized: 132 to the tegoprazan group and 129 to the esomeprazole group. The cumulative endoscopic healing rate at 8 weeks in the tegoprazan group was non-inferior to that of the esomeprazole group (91.1% vs. 92.8%, difference: -1.7%, 95% confidence interval [CI]: -8.5%, 5.0%, P = 0.008). There were no statistically significant differences in the changes in RDQ (total, severity, and frequency) and GERD-HRQL scores between the two groups (all P >0.05). The percentages of days without symptoms, including daytime and nighttime symptoms based on patients' diaries, were similar between the two groups (all P >0.05). In the tegoprazan and esomeprazole groups, 71.5% (93/130) and 61.7% (79/128) of the participants reported adverse events (AEs), 2.3% and 0 experienced serious AEs, while 70.0% and 60.2% had treatment-emergent AEs, respectively. Conclusion::Tegoprazan 50 mg/day demonstrated non-inferior efficacy in healing EE, symptom improvement, and quality of life, and it has similar tolerability compared with esomeprazole 40 mg/day.
5.BMI1/NF-κB axis remodeling TAMs phenotype promotes the malignant biological behavior of oral squa-mous cell carcinoma
Yahui LI ; Huan LI ; Yaodong HE ; Rong LIU ; Junhong HUANG ; Yating HU ; Jing LI ; Yanbing YAO ; Xin-Jie YANG ; Jianhua WEI
Journal of Practical Stomatology 2024;40(2):233-240
Objective:To investigate the impact of BMI1 expression in OSCC on the recruitment and differentiation of tumor-associat-ed macrophages(TAMs).Methods:BMI1 expression in 519 cases of OSCC tissues and 44 normal controls was analyzed using online datasets of GEPIA 2.0,and validated in 3 cases of OSCC samples and controls by qRT-PCR and western blotting.The function of BMI1/NF-κB axis during OSCC carcinogenesis was investigated by CCK8 assays,wound healing test and transwell assays.Macrophage phenotypes and recruitment were determined using qRT-PCR and western blotting following coculture of the cells with human monocyte cells(THP-1)by OSCC conditioned medium.Moreover,a cell line-derived xenograft(CDX)model was used to detect the effect of BMI1 on tumor growth in vivo.Results:Compared with the normal tissues and cells,the expression level of BMI1 in OSCC tissues and cells was significantly upregulated.BMI1 knockdown impaired the proliferation,migration,and invasion abilities of OSCC cell lines in NF-κB-dependent manner.Furthermore,OSCC cells with high BMI1 expression inhibited the migration of THP-1 cells,promoted M2-like macrophage polarization through NF-κB pathway in vitro.Xenograft experiments further confirmed the inhibitory effect of BMI1 knockdown on the tumorigenesis ability of OSCC cells in vivo.Conclusion:BMI1 promotes M2-like polarization by regulating NF-κB and may be used as a potential therapeutic target for antitumor immunity.
6.Expressions of CMTM6 and RASAL2 in prostate cancer tissues and their relationship with clinicopathological features and prognosis
Taiyang LIU ; Jie LI ; Yanbing SHEN ; Qi GUI ; Xueqiang HUANG ; Xiuhua WEN
Journal of Modern Urology 2024;29(3):248-252
【Objective】 To investigate the expressions of containing CKLF like MARVEL transmembrane domain gene 6 (CMTM6) and ras protein activator like 2 (RASAL2) in prostate cancer tissues, and to analyze the relationships between the above factors and the clinicopathological characteristics and prognosis of prostate cancer patients. 【Methods】 The prostate cancer tissues and adjacent tissues of 80 prostate cancer patients admitted to Zhumadian City Center Hospital during Feb.2018 and Feb.2020 were collected.Expressions of CMTM6 and RASAL2 were detected with immunohistochemical method.The relationship between the expressions of CMTM6 and RASAL2 and the clinical pathological characteristics of prostate cancer were analyzed.The survival curve was plotted with Kaplan-Meier method.The prognostic factors were analyzed with multivariate Cox regression. 【Results】 The positive expression rate of CMTM6 in prostate cancer tissues was 67.50%, which was obviously higher than 38.75% in adjacent tissues (χ2=13.277, P<0.001).The positive expression rate of RASAL2 in prostate cancer tissues was 47.50%, which was obviously lower than 73.75% in adjacent tissues (χ2=11.546, P=0.001).The expressions of CMTM6 and RASAL2 were not related to patients’ age, tumor size and tissue differentiation (P>0.05), but to TNM staging, Gleason score, lymph node metastasis and preoperative PSA level (P<0.05).Survival curve showed that the 3-year survival rate of positive CMTM6 expression patients was 61.11% (33/54), which was obviously lower than that of negative patients, which was 88.46% (23/26) (χ2=5.940, P=0.015).The 3-year survival rate of positive RASAL2 expression patients was 81.85% (31/38), which was obviously higher than that of negative patients, which was 59.52% (25/42) (χ2=4.887, P=0.027).Cox multivariate regression showed that Gleason score, lymph node metastasis, preoperative PSA level, CMTM6, and RASAL2 were independent influencing factors of prognosis (P<0.05). 【Conclusion】 The positive expression rate of CMTM6 in prostate cancer tissues is significantly higher than that in paracancer tissues, while the positive expression rate of RASAL2 in prostate cancer tissues is significantly lower than that in paracancer tissues. Both CMTM6 and RASAL2 are closely related to the clinical pathological characteristics and prognosis of prostate cancer patients, and may provide reference for the prognosis.
7.A novel nomogram-based model to predict the postoperative overall survival in patients with gastric and colorectal cancer
Siwen WANG ; Kangjing XU ; Xuejin GAO ; Tingting GAO ; Guangming SUN ; Yaqin XIAO ; Haoyang WANG ; Chenghao ZENG ; Deshuai SONG ; Yupeng ZHANG ; Lingli HUANG ; Bo LIAN ; Jianjiao CHEN ; Dong GUO ; Zhenyi JIA ; Yong WANG ; Fangyou GONG ; Junde ZHOU ; Zhigang XUE ; Zhida CHEN ; Gang LI ; Mengbin LI ; Wei ZHAO ; Yanbing ZHOU ; Huanlong QIN ; Xiaoting WU ; Kunhua WANG ; Qiang CHI ; Jianchun YU ; Yun TANG ; Guoli LI ; Li ZHANG ; Xinying WANG
Chinese Journal of Clinical Nutrition 2024;32(3):138-149
Objective:We aimed to develop a novel visualized model based on nomogram to predict postoperative overall survival.Methods:This was a multicenter, retrospective, observational cohort study, including participants with histologically confirmed gastric and colorectal cancer who underwent radical surgery from 11 medical centers in China from August 1, 2015 to June 30, 2018. Baseline characteristics, histopathological data and nutritional status, as assessed using Nutrition Risk Screening 2002 (NRS 2002) score and the scored Patient-Generated Subjective Global Assessment, were collected. The least absolute shrinkage and selection operator regression and Cox regression were used to identify variables to be included in the predictive model. Internal and external validations were performed.Results:There were 681 and 127 patients in the training and validation cohorts, respectively. A total of 188 deaths were observed over a median follow-up period of 59 (range: 58 to 60) months. Two independent predictors of NRS 2002 and Tumor-Node-Metastasis (TNM) stage were identified and incorporated into the prediction nomogram model together with the factor of age. The model's concordance index for 1-, 3- and 5-year overall survival was 0.696, 0.724, and 0.738 in the training cohort and 0.801, 0.812, and 0.793 in the validation cohort, respectively.Conclusions:In this study, a new nomogram prediction model based on NRS 2002 score was developed and validated for predicting the overall postoperative survival of patients with gastric colorectal cancer. This model has good differentiation, calibration and clinical practicability in predicting the long-term survival rate of patients with gastrointestinal cancer after radical surgery.
8.A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome: A case report
Yueli LI ; Yanhong LI ; Guohong WEI ; Yu YANG ; Wanping DENG ; Yanbing LI ; Zhimin HUANG
Chinese Journal of Endocrinology and Metabolism 2023;39(8):704-709
We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.
9.Study on the diagnostic value of benign and malignant thyroid nodules based on artificial intelligence (AI) technology combined with thyroid ultrasound imaging and data system (TI-RADS) grading
Zheng WAN ; Bing WANG ; Qinglei HUI ; Jing YAO ; Fengxia GONG ; Chen LI ; Linlin ZHANG ; Xin MIAO ; Lin LIU ; Kai ZHANG ; Yanbing JIAN ; Sisi HUANG ; Shengwei LAI ; Wen TIAN
Chinese Journal of Endocrine Surgery 2022;16(2):185-189
Objective:To study the diagnostic value of the artificial intelligence (AI) diagnostic system, ACR TI-RADS classification and AI+ ACR TI-RADS combined diagnostic performance in benign and malignant thyroid nodules and its guiding significance for surgical treatment.Methods:From Nov. 1, 2021, to Feb. 26, 2022, 349 patients with 605 thyroid nodules who received surgical treatment in Department of Thyroid (Hernia) Surgery, Department of General Surgery, the First Medical Center of the PLA General Hospital, were selected. There were 95 males and 254 females, male: female=1:2.67, aged 16-78 years, and the nodule diameter was 0.2-5.6 cm. SPSS 26.0 and R studio software were used for data processing. AI diagnostic system, ACR TI-RADS grading and AI+ ACR TI-RADS combined diagnostic efficacy were statistically analyzed, respectively. ROC curve analysis was performed in parallel.Results:The AUC value of AI+ ACR TI-RADS combined diagnosis was 0.900, greater than 0.857 of AI diagnostic system and 0.788 of ACR TI-RADS, and the difference was statistically significant ( Z= 7.631, both P<0.001) . The sensitivity of the combined diagnosis was 95.32%, the specificity was 84.61%, the accuracy was 92.56%, the positive predictive value was 94.69%, the negative predictive value was 86.27%, the missed diagnosis rate was 4.68%, and the misdiagnosis rate was 15.38%, which were better than the other two diagnostic methods. With an excellent coincidence rate with postoperative pathological results ( Kappa=0.804, P<0.001) . The accuracy of combined diagnosis in identifying the maximum diameter of different tumors was 89.58% for d≤0.5 cm, 96.09% for 0.5
10.Postnatal outcomes and prognosis of fetal intra-abdominal solid masses diagnosed by prenatal ultrasound
Shaobo YANG ; Yanbing HUANG ; Kuiran DONG ; Luming SUN ; Yu XIONG ; Chun SHEN
Chinese Journal of Perinatal Medicine 2022;25(5):355-359
Objective:To investigate the clinical outcomes and prognosis of children who were prenatally diagnosed with solid space-occupying abdominal lesions by ultrasound.Methods:This study retrospectively enrolled 30 children with solid space-occupying abdominal lesions that were indicated by prenatal ultrasound at Children's Hospital of Fudan University from March 2015 to March 2021. Prenatal ultrasound findings, postnatal treatment, clinical outcomes, and prognosis were analyzed.Results:These subjects included 18 male and 12 female infants, with the median gestational age at the first sonographic diagnosis of 36 weeks (28 to 39 weeks). The intra-abdominal solid masses were postnatally confirmed to be located in liver, retroperitoneum, and gastrointestinal tract, which were hepatic hemangioma ( n=14), hepatoblastoma ( n=2), neuroblastoma ( n=6), abdominal teratoma ( n=4), adrenal hematoma ( n=1), adrenocortical adenoma ( n=1), hyperplasia of renal capillary ( n=1), and gastrointestinal teratoma ( n=1). The accuracy of prenatal ultrasound in detecting the location of masses was 73% (22/30) and which was 13/16 in detecting masses from liver and 9/14 in that outside the liver. Among the 30 cases, 73% (22/30) were benign tumors, and 27% (8/30) were malignant tumors (hepatoblastoma in two cases and neuroblastoma in six cases). Among 15 patients with benign tumors (hepatic hemangioma and adrenal hematoma) who received close follow-up or drug therapy, tumor/lesion regression occurred in 13 cases and the other two were observed with stable hepatic hemangiomas. Fourteen patients, including six with neuroblastoma, two with hepatoblastoma, five with teratoma, one with adrenocortical adenoma, and one with hyperplasia of renal capillary, had good prognosis after primary tumor resection or combined with postoperative chemotherapy. One hepatoblastoma case died after withdrawing treatment. The overall survival rate was 97% (29/30) with a median follow-up time of 24 months (4 to 60 months). Conclusions:Prenatal ultrasound has high accuracy in identifying the anatomic region of fetal solid space-occupying abdominal lesions. With close postnatal follow-up and proper treatment, most of the affected fetuses will have a good outcome and prognosis.

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