1.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
		                        		
		                        			 Objectives:
		                        			Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. 
		                        		
		                        			Methods:
		                        			Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. 
		                        		
		                        			Results:
		                        			Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. 
		                        		
		                        			Conclusions
		                        			In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH. 
		                        		
		                        		
		                        		
		                        	
2.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
		                        		
		                        			 Objectives:
		                        			Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. 
		                        		
		                        			Methods:
		                        			Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. 
		                        		
		                        			Results:
		                        			Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. 
		                        		
		                        			Conclusions
		                        			In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH. 
		                        		
		                        		
		                        		
		                        	
3.Measles, rubella, and mumps antibody seroprevalence among the children aged 18 years and younger in Karamay City, Xinjiang Uygur Autonomous Region
Meili WU ; Xia LI ; Ling ZUO ; Liping RONG ; Jing WANG ; Feng WANG
Shanghai Journal of Preventive Medicine 2025;37(3):239-243
		                        		
		                        			
		                        			ObjectiveTo understand the measles, rubella, and mumps antibody seroprevalence among the children aged 18 years and younger in Karamay City, and to evaluate the effectiveness of vaccination. MethodsA stratified whole cluster random sampling method was used to investigate the antibody seroprevalence of measles, rubella, and mumps among the healthy children aged 18 years and younger in Karamay City, and to further analyze the positive antibody rates and the geometric mean concentration (GMC) of antibodies. ResultsA total of 620 people were investigated, and the positive rates of IgG to measles, rubella, and mumps were 72.74%,62.26%, and 86.45%, respectively, with a GMC of308.94 mIU·mL-1, 21.81 mIU·mL-1, and 249.10 U·mL-1. There were statistically significant differences in the positive rates of antibodies to measles, rubella, and mumps among different age groups (χ2measles=76.707, P<0.001; χ2rubella=60.804, P<0.001; χ2mumps=35.407, P<0.001). The differences in positive rates were statistically significant among individuals with different intervals from the time of their last dose vaccination (χ2measles=60.533, P<0.001; χ2rubella=46.331, P<0.001; χ2mumps=22.825, P<0.001). ConclusionThe antibody levels of measles, rubella and mumps among the people aged 18 years and younger in Karamay City are found to be low. Two doses of measles-mumps-rubella (MMR) vaccine should be given to children born before 2020, and if necessary, supplementary immunization with MMR vaccine should be carried out before they are enrolled in nursery and kindergarten. Additionally, regular population-based antibody surveillance should be conducted to promptly identify the people with weak immunity, which is conducive to effectively reducing and controlling the epidemic situation of measles, rubella and mumps in schools. 
		                        		
		                        		
		                        		
		                        	
4.Emphasis on management of capsular embedded hyperplasia nodules
Shujie XIA ; Chenghao ZHENG ; Yiping ZHU ; Yifeng JING
Journal of Modern Urology 2025;30(2):95-98
		                        		
		                        			
		                        			Benign prostatic hyperplasia (BPH) is one of the most common diseases in elderly men,and surgical treatment is one of the major therapeutic modalities.The management of prostatic hyperplasia nodules,especially capsular embedded hyperplasia nodules,is crucial to reduce the incidence of postoperative complications and rate of secondary surgery.In this essay,we summarize the sources of prostatic hyperplasia nodules,relationship between incidence of postoperative complications and capsular embedded hyperplasia nodules,advantages and disadvantages of various surgical procedures for the management of hyperplasia nodules and share our experience in the management of capsular embedded hyperplasia nodules in thulium laser enucleation of the prostate.
		                        		
		                        		
		                        		
		                        	
5.In vitro expression analysis of the ITGB3 c.598G/A mutation and its association with FNAIT
Haoqiang DING ; Xin YE ; Xiuzhang XU ; Wenjie XIA ; Jing DENG ; Jing LIU ; Yangkai CHEN ; Dawei CHEN ; Yaori XU
Chinese Journal of Blood Transfusion 2025;38(7):873-878
		                        		
		                        			
		                        			Objective: To explore the role of the c.598G>A mutation of the ITGB3 gene in the occurrence of fetal and neonatal alloimmune thrombocytopenia (FNAIT) through its expression in vitro. Methods: The platelet antibodies in the sera of the affected neonate and her mother were detected using commercial enzyme-linked immunosorbent assay (ELISA), solid-phase agglutination, flow cytometry and the gold standard monoclonal antibody-specific immobilization of platelet antigens (MAIPA). The common human platelet antigen (HPA) genotypes of the neonate and her parents were obtained using the HPA-SSP method. The presence of mutations was analyzed by sequencing the exons of the ITGB3 and ITGA2B genes. The target gene of ITGB3 was obtained by PCR amplification using the existing human platelet cDNA. The wild-type ITGB3 eukaryotic expression vector was constructed by TA cloning technology. The 598G>A mutant ITGB3 eukaryotic expression vector was obtained by point mutation, and the plasmid DNA was co-transfected with that of ITGA2B (αⅡb) into HEK293 cells. The transfected cells stably expressing GP Ⅱb/Ⅲa were screened and obtained. The expression of GP Ⅱb/Ⅲa in 598G>A mutant transfected cells and the presence of antibodies against this mutation in the serum of mother were detected by flow cytometry and MAIPA. Results: Antibodies against HLA-class Ⅰ and GP Ⅱb/Ⅲa glycoproteins were detected in the serum of the neonate's mother, and subsequent HLA antibody-specific testing confirmed the presence of antibodies against HLA-B
       57∶01 and A
       02∶05. ITGB3 sequencing showed that the neonate and her father carried the c.598G>A point mutation, which results in the change of glutamate to lysine at position 200. Antibodies against GP Ⅱb/Ⅲa glycoproteins were not detected using constructed c.598G>A mutant transfected cells reacted with the maternal serum. Conclusion: The in vitro expression and analysis of the ITGB3 c.598G>A mutation did not support a role for this mutation in the pathogenesis of FNAIT. The establishment of this method facilitates the discovery of new platelet low-frequency antigens, and provides a theoretical foundation for the detection of antibodies against platelet antigens associated with patients with adverse pregnancy and childbirth histories.
    
		                        		
		                        		
		                        		
		                        	
6.In vitro expression analysis of the ITGB3 c.598G/A mutation and its association with FNAIT
Haoqiang DING ; Xin YE ; Xiuzhang XU ; Wenjie XIA ; Jing DENG ; Jing LIU ; Yangkai CHEN ; Dawei CHEN ; Yaori XU
Chinese Journal of Blood Transfusion 2025;38(7):873-878
		                        		
		                        			
		                        			Objective: To explore the role of the c.598G>A mutation of the ITGB3 gene in the occurrence of fetal and neonatal alloimmune thrombocytopenia (FNAIT) through its expression in vitro. Methods: The platelet antibodies in the sera of the affected neonate and her mother were detected using commercial enzyme-linked immunosorbent assay (ELISA), solid-phase agglutination, flow cytometry and the gold standard monoclonal antibody-specific immobilization of platelet antigens (MAIPA). The common human platelet antigen (HPA) genotypes of the neonate and her parents were obtained using the HPA-SSP method. The presence of mutations was analyzed by sequencing the exons of the ITGB3 and ITGA2B genes. The target gene of ITGB3 was obtained by PCR amplification using the existing human platelet cDNA. The wild-type ITGB3 eukaryotic expression vector was constructed by TA cloning technology. The 598G>A mutant ITGB3 eukaryotic expression vector was obtained by point mutation, and the plasmid DNA was co-transfected with that of ITGA2B (αⅡb) into HEK293 cells. The transfected cells stably expressing GP Ⅱb/Ⅲa were screened and obtained. The expression of GP Ⅱb/Ⅲa in 598G>A mutant transfected cells and the presence of antibodies against this mutation in the serum of mother were detected by flow cytometry and MAIPA. Results: Antibodies against HLA-class Ⅰ and GP Ⅱb/Ⅲa glycoproteins were detected in the serum of the neonate's mother, and subsequent HLA antibody-specific testing confirmed the presence of antibodies against HLA-B
       57∶01 and A
       02∶05. ITGB3 sequencing showed that the neonate and her father carried the c.598G>A point mutation, which results in the change of glutamate to lysine at position 200. Antibodies against GP Ⅱb/Ⅲa glycoproteins were not detected using constructed c.598G>A mutant transfected cells reacted with the maternal serum. Conclusion: The in vitro expression and analysis of the ITGB3 c.598G>A mutation did not support a role for this mutation in the pathogenesis of FNAIT. The establishment of this method facilitates the discovery of new platelet low-frequency antigens, and provides a theoretical foundation for the detection of antibodies against platelet antigens associated with patients with adverse pregnancy and childbirth histories.
    
		                        		
		                        		
		                        		
		                        	
7.Correlation between depressive symptom and traditional Chinese medicine constitution among school aged children and adolescents
Chinese Journal of School Health 2025;46(9):1222-1225
		                        		
		                        			Objective:
		                        			To explore the correlation between traditional Chinese medicine (TCM) constitution and depressive symptom among school aged children and adolescents, so as to provide evidences for informing constitution based regulation and prevention of depressive symptom.
		                        		
		                        			Methods:
		                        			From June to December 2024, a total of 4 729 students aged 6-14 were recruited by cluster random sampling from 10 primary schools in Baoding (Hebei Province), Heze and Liaocheng (Shandong Province). General information, TCM constitution and depressive symptom were collected. Restricted cubic spline (RCS) models were used to analyze related factors and threshold effects of depressive symptom. Binary Logistic regression was applied to examine the association between depressive symptom and TCM constitution, with subgroup analyses conducted.
		                        		
		                        			Results:
		                        			The detection rate of depressive symptom among the included children and adolescents was 25.82%. RCS analyses indicated non linear associations between depressive symptom and age (inflection point at 10 years old), bedtime (inflection point at 22:00), and wake up time (inflection point at  6:30 ) (all  P non linearity <0.01). Linear associations were observed with body mass index (BMI) and sleep duration (all  P non linearity > 0.05 ). After adjusting for covariates such as age, BMI and sleep status, binary Logistic regression analyses showed that Yin deficient constitution ( OR =1.26, 95% CI =1.09-1.45) and Phlegm-dampness constitution ( OR =1.42, 95% CI =1.11-1.82) were significantly associated with depressive symptom among children and adolescents (all  P <0.05).
		                        		
		                        			Conclusions
		                        			Depressive symptom among school aged children and adolescents is primarily associated with Yin deficiency and Phlegm dampness constitutions in TCM constitution. Active attention should be paid to susceptible TCM constitution among children and adolescents. Targeted health guidance and interventions should be implemented to improve TCM constitution health status for preventing the occurrence of depressive symptom.
		                        		
		                        		
		                        		
		                        	
8.The Effect of Fuzheng Huaji Formula (扶正化积方) for Chronic Hepatitis B on Reduction of the Incidence of Liver Cirrhosis and Hepatocellular Carcinoma:A Retrospective Cohort Study
Simiao YU ; Jiahui LI ; Jing JING ; Tingting HE ; Yongqiang SUN ; Liping WANG ; Aozhe ZHANG ; Xiaohe XIAO ; Xia DING ; Ruilin WANG
Journal of Traditional Chinese Medicine 2025;66(3):268-274
		                        		
		                        			
		                        			ObjectiveTo evaluate the clinical efficacy of Fuzheng Huaji Formula (扶正化积方) for chronic hepatitis B to reduce the incidence of liver cirrhosis and hepatocellular carcinoma. MethodsA retrospective cohort study was conducted, collecting medical records of 118 patients with chronic hepatitis B and 234 patients with hepatitis B-related cirrhosis who visited the hospital between January 1, 2014, and December 31, 2018. The use of Fuzheng Huaji Formula was designated as the exposure factor. Patients receiving antiviral treatment for hepatitis B without concurrent Fuzheng Huaji Formula therapy were included in the western medicine group, while those receiving antiviral treatment combined with Fuzheng Huaji Formula for a cumulative treatment lasting longer than 3 months were included in the combined treatment group. The follow-up observation period was five years. Kaplan-Meier survival analysis was used to assess the cumulative incidence of cirrhosis in patients with chronic hepatitis B and the cumulative incidence of hepatocellular carcinoma in patients with hepatitis B-related cirrhosis. Univariate and multivariate Cox regression analyses were employed to examine the factors influencing the occurrence of cirrhosis and hepatocellular carcinoma. ResultsAmong patients with chronic hepatitis B, there were 55 cases in the combined treatment group and 63 cases in the western medicine group; among patients with hepatitis B-related cirrhosis, there were 110 cases in the combined treatment group and 124 cases in the western medicine group. Five-year follow-up outcomes for chronic hepatitis B patients showed that the cumulative incidence of cirrhosis was 5.45% (3/55) in the combined treatment group and 17.46% (11/63) in the western medicine group, with a statistically significant difference between groups (Z = 2.003, P = 0.045). Five-year follow-up outcomes for hepatitis B-related cirrhosis patients showed that the cumulative incidence of hepatocellular carcinoma was 8.18% (9/110) in the combined treatment group and 22.58% (28/124) in the western medicine group, also showing a statistically significant difference (Z = 3.007, P = 0.003). Univariate and multivariate Cox regression analyses indicated that treatment with Fuzheng Huaji Formula is an independent protective factor in preventing the progression of chronic hepatitis B to cirrhosis and the progression of hepatitis B-related cirrhosis to hepatocellular carcinoma (P<0.05). ConclusionCombining Fuzheng Huaji Formula with antiviral therapy for hepatitis B can effectively intervene in the disease progression of chronic hepatitis B, reducing the incidence of cirrhosis and hepatocellular carcinoma. 
		                        		
		                        		
		                        		
		                        	
9.Research progress of nano drug delivery system based on metal-polyphenol network for the diagnosis and treatment of inflammatory diseases
Meng-jie ZHAO ; Xia-li ZHU ; Yi-jing LI ; Zi-ang WANG ; Yun-long ZHAO ; Gao-jian WEI ; Yu CHEN ; Sheng-nan HUANG
Acta Pharmaceutica Sinica 2025;60(2):323-336
		                        		
		                        			
		                        			 Inflammatory diseases (IDs) are a general term of diseases characterized by chronic inflammation as the primary pathogenetic mechanism, which seriously affect the quality of patient′s life and cause significant social and medical burden. Current drugs for IDs include nonsteroidal anti-inflammatory drugs, corticosteroids, immunomodulators, biologics, and antioxidants, but these drugs may cause gastrointestinal side effects, induce or worsen infections, and cause non-response or intolerance. Given the outstanding performance of metal polyphenol network (MPN) in the fields of drug delivery, biomedical imaging, and catalytic therapy, its application in the diagnosis and treatment of IDs has attracted much attention and significant progress has been made. In this paper, we first provide an overview of the types of IDs and their generating mechanisms, then sort out and summarize the different forms of MPN in recent years, and finally discuss in detail the characteristics of MPN and their latest research progress in the diagnosis and treatment of IDs. This research may provide useful references for scientific research and clinical practice in the related fields. 
		                        		
		                        		
		                        		
		                        	
		                				10.Two new glycosides from the Citri Sarcodactylis  Fructus
		                			
		                			Jing-jing MIAO ; Ge-ge XIA ; Ge-ge ZHAO ; Yu-zhong ZHENG ; Yan-zhi WANG
Acta Pharmaceutica Sinica 2025;60(1):196-200
		                        		
		                        			
		                        			 Six compounds were isolated from the ethyl acetate fraction of 
		                        		
		                        	
            

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