1.Chemical knockdown of Keap1 and homoPROTAC-ing allergic rhinitis.
Jianyu YAN ; Tianyu WANG ; Ruizhi YU ; Lijuan XU ; Hongming SHAO ; Tengfei LI ; Zhe WANG ; Xudong CHA ; Zhenyuan MIAO ; Chengguo XING ; Ke XU ; Huanhai LIU ; Chunlin ZHUANG
Acta Pharmaceutica Sinica B 2025;15(8):4137-4155
Allergic rhinitis (AR), a globally prevalent immune-mediated inflammatory condition, is still an incurable disease. In the present study, we have validated the impact of the Kelch-like ECH associated protein 1 (Keap1)-related oxidative stress and inflammatory response in clinical AR patient peripheral blood and nasal swab samples, emphasizing the biological relevance of Keap1 and AR. Targeting Keap1 -nuclear factor erythroid 2-related factor 2 (Nrf2) related anti-oxidative stress may be effective for AR intervention. Drawing inspiration from the Keap1 homodimerization and the E3 ligase characteristics, we herein present a design of novel bivalent molecules for chemical knockdown of Keap1. For the first time, we characterized ternary complexes of Keap1 dimer and one molecule of bivalent compounds. The best bivalent molecule 8 encompasses robust capacity to degrade Keap1 as a homoPROTACKEAP1. It efficaciously suppresses inflammatory cytokines in extensively different cells, including human nasal epithelial cells. Moreover, in an AR mouse model, we confirmed that the chemical degradation induced by homoPROTACKEAP1 led to therapeutic benefits in managing AR symptoms, oxidative stress and inflammation. In summary, our findings underscore the efficacy of targeting the Keap1 system through the homoPROTAC-ing technology as an innovative and promising treatment strategy for the incurable allergic disorders.
2.Pathogen spectrum of diarrheal disease surveillance in Fengxian District, Shanghai, 2013‒2023
Meihua LIU ; Yuan ZHUANG ; Xiaohong XIE ; Hongwei ZHAO ; Yuan SHI ; Lijuan DING ; Yi HU ; Lixin TAO
Shanghai Journal of Preventive Medicine 2025;37(4):336-341
ObjectiveTo investigate the pathogenic spectrum and epidemiological characteristics of diarrheal disease in Fengxian District of Shanghai, and to provide scientific basis for the prevention and control of diarrheal diseases. MethodsBasic information of the initial adult cases visited diarrheal disease surveillance sentinel hospital in Fengxian District, Shanghai, was collected from August 2013 to 2023, and fecal samples were collected at 1∶5 sampling intervals to isolate and identify 5 kinds of diarrheagenic Escherichia coli (DEC), Salmonella (SAL), Vibrio parahaemolyticus, Campylobacter, Vibrio cholerae, Shigella and Yersinia enterocolitica (YE). Simultaneously, nucleic acid detection was performed for 3 kinds of rotavirus, 2 kinds of norovirus, intestinal adenovirus, astrovirus and sapovirus. ResultsA total of 1 861 cases of newly diagnosed diarrheal disease were reported, with the peak in July to August. Additionally, 704 surveillance samples were detected, with a total positive detection rate of 50.57%. The detection rates of bacterial, viral and mixed infection were 25.14%, 21.02% and 4.40%, respectively. Among the pathogens detected, DEC accounted for the highest (17.61%, 124/704), followed by norovirus (16.48%, 116/704), rotavirus (6.39%, 45/704), SAL (5.97%, 42/704) and Campylobacter (3.84%, 27/704). DEC detected were mainly enteroaggregative Escherichia coli and enterotoxigenic Escherichia coli, with no detection of Vibrio cholerae, Shigella and YE. The highest total pathogen detection rate was observed from June to September, and the detection peaks of norovirus were from March to June and from October to December, whereas that of DEC was from June to October. The detection rate of rotavirus peaked from January to February, but which was not detected between 2020‒2023. The SAL positive rate peak was in September, whereas that of Campylobacter was from July to September. ConclusionThe main pathogens detected in Fengxian District from 2013‒2019 are DEC, norovirus, rotavirus, SAL and Campylobacter. Different pathogens have different detection peaks, with bacteria predominating in summer and viruses in winter and spring. Prevention and control measures should be carried out according to the epidemiological characteristics of different seasons.
3.Analysis of common non-bacterial pathogens in hospitalized children with acute respiratory infections: a multicenter study in four regions of Fujian Province in 2023
Lin CAI ; Xiaoman GAO ; Fucun ZHU ; Xiuhua LIU ; Wenlong ZHOU ; Shaohua GE ; Lijuan ZHUANG ; Guanglin ZHANG ; Xiaoping LAI ; Ting LIU
Chinese Journal of Preventive Medicine 2025;59(10):1665-1675
Objective:To analyze the distribution and epidemiological characteristics of common non-bacterial pathogens in hospitalized children with acute respiratory tract infections(ARTI)from a multi-center study covering 4 regions in Fujian Province in 2023.Methods:A retrospective cohort study was conducted using medical record analysis.A total of 22 769 hospitalized children with ARTI were enrolled from January to December 2023 across seven regional pediatric medical centers in Fujian Province (covering four major geographical divisions of Fuzhou, Nanping, Sanming and Longyan; all selected hospitals were regional children′s medical centers).Using single-tube multiplex PCR with fragment analysis on a Sanger sequencing platform, the nucleic acids of 11 common non-bacterial respiratory pathogens were tested in nasopharyngeal swabs collected from 22 769 children. These pathogens included influenza A virus(FluA), influenza B virus(FluB), parainfluenza virus(PIV), respiratory syncytial virus (RSV), adenovirus (ADV), human rhinovirus (HRV), human bocavirus (HBoV), human coronavirus (HCoV), human metapneumovirus(HMPV), Mycoplasma pneumoniae(MP), and Chlamydia (Ch). Count data were described as [ n(%)], and the chi-square test/Fisher′s exact test was used to compare the differences in rates between groups. Epidemiological features, including positive detection rates, pathogen profiles, and correlations with region, sex, age and month, were analyzed. Results:Among 22 769 children with ARTI, pathogens were detected in 16 213 cases (71.21%), including 13 340 single infections (58.59%).The detection rates of single pathogens in descending order were human rhinovirus (HRV, 12.95%), Mycoplasma pneumoniae(MP, 12.27%), respiratory syncytial virus(RSV, 11.12%), influenza A virus (Flu-A, 7.98%), parainfluenza virus(PIV, 4.66%), human metapneumovirus(HMPV, 4.60%), adenovirus(ADV, 2.70%), human bocavirus(HBoV, 0.84%), human coronavirus(HCoV, 0.82%), influenza B virus(Flu-B, 0.47%) and Chlamydia(Ch, 0.18%).Mixed infections occurred in 2 873 cases(12.62%), primarily dual infections(2 679 cases).Regional analysis revealed significant disparities:Luoyuan County Hospital (Fuzhou) exhibited the highest total detection rate(86.59%, 1 414/1 633)and mixed infection rate(23.27%, 380/1 633)(both P<0.001), with notably elevated MP (26.39%, 431/1 633);Jian′ou City Hospital(Nanping) ranked second for Flu-A(14.21%, 409/2 879), RSV(13.20%, 380/2 879) and mixed infections(17.12%, 493/2 879);Lianjiang County Hospital(Fuzhou) showed distinct prevalence of Flu-A(10.68%, 130/1 217), PIV(6.00%, 73/1 217), and HBoV(1.73%, 21/1 217); Yong′an City Hospital (Sanming) reported high MP (26.07%, 238/913) and RSV(12.38%, 113/913);Shaowu City Hospital(Nanping) was dominated by MP (18.60%, 407/2 188) and HRV(13.39%, 293/2 188); Tingzhou Hospital(Longyan) had the highest HRV (17.88%, 407/2 276) and Flu-B (0.75%, 17/2 276); and Fuzhou Children′s Hospital showed elevated ADV(3.38%, 394/11 663) and HCoV(1.08%, 126/11 663). Except for Flu-B(0.47%, 108/22 769; P=0.054) and Ch(0.18%, 40/22769; P=0.900), all pathogens and mixed infections exhibited significant regional variations ( P<0.05).Gender analysis indicated higher detection rates of HRV, RSV, Flu-A, ADV, PIV, HBoV and mixed infections in males, while MP, HMPV, Flu-B, HCoV, and Ch were more prevalent in females, with statistically significant differences for HRV and MP (both P<0.001). Age stratification showed the highest overall detection rate in the 3-<6 years group (75.48%; P<0.001): RSV and Ch peaked in infants (<1 year), HRV, PIV, ADV and HBoV in toddlers (1-<3 years), HMPV, HCoV, and mixed infections in preschool children (3-<6 years), and MP, Flu-A and Flu-B in older children (6-<18 years).Analyzing the prevalent months, the monthly prevalence trends of pathogens in various regions are similar.Seasonal trends demonstrated year-round HRV activity (peaking in spring/autumn), MP prevalence in autumn/winter, RSV surges in spring-summer (April-June) and late summer-autumn (August-October), and Flu-A predominanced in winter-spring. Conclusion:Multiplex PCR with fragment analysis demonstrated high diagnostic efficacy. The top 4 non-bacterial pathogens in Fujian Province′s ARTI-hospitalized children in 2023 were HRV, MP, RSV and Flu-A. Pathogen distribution exhibited significant regional, age and seasonal variations, emphasizing the need for targeted prevention strategies.
4.Two cases of female monozygotic twins with schizophrenia carrying a balanced translocation between 22q11.2 and 4p15.3
Xuyuan YIN ; Chuanwei LI ; Qing YANG ; Yuan CAI ; Wenlong HOU ; Lijuan MAN ; Nannan ZHUANG ; Jiaqi CAO ; Qi QI ; Zhenhua ZHU ; Li HUI
Chinese Journal of Psychiatry 2025;58(1):47-50
Schizophrenia is a common, severe, and complex psychiatric disorder worldwide. Genetic factors account for around 80% of the etiology of schizophrenia, yet objective diagnostic biomarkers remain lacking. This article reports two cases of female monozygotic twins diagnosed with schizophrenia, exhibiting a balanced translocation between 22q11.2 and 4p15.3. Reviewing the literature, we analyze and discuss the correlation between chromosomal balanced translocation regions and the pathogenesis of mental disorders. This aims to encourage psychiatrists to consider new perspectives on the diagnosis of schizophrenia.
5.Exploration of left ventricular decompression in children undergoing extracorporeal membrane oxygenation
Lijuan LI ; Zhongxuan LAO ; Yuyin YE ; Jiaxin ZHUANG ; Yanqin CUI
Chinese Pediatric Emergency Medicine 2025;32(3):197-201
Objective:To explore the feasibility and efficacy of left ventricular decompression in pediatric patients supported by extracorporeal membrane oxygenation(ECMO).Methods:The clinical data of 15 children who underwent left ventricular decompression during ECMO in the cardiac intensive care unit(CICU)of Guangzhou Women and Children's Medical Center from February 2021 to August 2023 were retrospectively analyzed.Results:Among the 15 patients,there were 8 males and 7 females,with a median age of 1.1 years old(20 days to 15 years old)and a median weight of 8.5(3.1 to 38.0)kg. Cardiac pathologies varied,including hypertrophic obstructive cardiomyopathy(1 case),left coronary artery abnormalities originating from the pulmonary artery(3 cases),aortic coarctation with ventricular septal defect(1 case),complete transposition of great arteries with ventricular septal defect(1 case),ventricular septal defect with severe mitral valve insufficiency(1 case),fulminant myocarditis(5 cases),tetralogy of Fallot(1 case),ascending aortic aneurysm with aortic valve insufficiency(1 case),and Kawasaki disease complicated with giant aneurysm(1 case). The venous-arterial ECMO mode was used in all 15 children,9 cases were intubated centrally and 6 cases were intubated peripherally. The reasons for ECMO:low cardiac output(8 cases),cardiogenic shock(5 cases),and frequent ventricular tachycardia and ventricular fibrillation(2 cases). Extracorporeal cardiopulmonary resuscitation was performed in 3 cases. The median duration of mechanical ventilation was 248 (142-590) h,the median CICU stay was 18 (7-26) d,and the median hospital stay was 28 (7-37) d. Of the 15 children,7 cases underwent emergency left ventricular decompression through a small sternal incision,with a mean decompression time of ECMO-assisted 12.2(9-22) h,and 8 cases underwent selective left ventricular decompression through a median sternal incision. Left ventricular systolic function improved significantly after decompression in all 15 patients,of whom 12 cases were successfully withdrew off ECMO and 10 cases of them survived.Conclusion:Left ventricular decompression can improve the cardiac dysfunction in children with ECMO,reduce the occurrence of complications,and increase the success rate and survival rate of ECMO.
6.A mixed-methods study on the barriers to the application of non-pharmacological prevention evidence for venous thromboembolism in multiple myeloma patients from the perspective of nurses
Xiaoping ZHANG ; Ruo ZHUANG ; Liangying CHEN ; Liqun ZHU ; Lijuan SUN
Chinese Journal of Practical Nursing 2025;41(32):2501-2508
Objective:To explore the barriers to nurses applying the best evidence for non-pharmacologic prophylactic management of venous thromboembolism (VTE) in patients with multiple myeloma (MM), and to provide a basis for the development of clinical responses.Methods:A parallel mixed-methods study was conducted in January 2024 to facilitate the selection of nurses from the hematology department of Affiliated Hospital of Jiangsu University to conduct semi-structured in-depth interviews. Concurrently, convenience sampling was employed to select nursing staff from the same departineat for a quantitative questionnaire survey. The interview outlines based on the theoretical domains framework and the questionnaires based on the Barriers to the Application of the Evidence and Facilitators Scale. The questionnaire was developed based on the Barriers and Facilitators to Evidence Application Scale and combined with qualitative and quantitative analyses to derive barriers to nurses' implementation of best evidence.Results:The qualitative study conducted interviews with 9 female nurses in the hematology department, aged 25-49. The quantitative study surveyed 17 female nurses in the hematology department with an average age of (33.18 ± 9.09) years. Nurses scored high overall in evidence application (156.65 ± 20.09) points, with high scores on the organizational form dimension (34.47 ± 1.48) points, the evidence application leader dimension (44.24 ± 1.30) points, the nurses' team dimension (42.53 ± 1.41) points, and the implementation scenario dimension (11.18 ± 0.61) points, which suggests that nurses were process was well supported overall. Low scores on the evidence dimension (11.94 ± 0.91) points and patient dimension (12.41 ± 1.03) points indicated that nurses had barriers in knowledge acquisition and practical application. The results of qualitative interviews further revealed that nurses encourter multiple challenges when applying best evidence, including insufficient knowledge base, low professional identity within societym, absence of standardized departmental protocols, negative outcome expectations, and inadequate motivation coupled with ulcear objectives.Conclusions:There are multiple clinical factors affecting nurses' application of best evidence, and departments should propose targeted coping strategies based on the barrier factors to ensure the successful implementation of evidence-based practice changes, and thus advance the clinical application of best evidence for non-pharmacological prevention of VTE in MM patients.
7.Analysis of common non-bacterial pathogens in hospitalized children with acute respiratory infections: a multicenter study in four regions of Fujian Province in 2023
Lin CAI ; Xiaoman GAO ; Fucun ZHU ; Xiuhua LIU ; Wenlong ZHOU ; Shaohua GE ; Lijuan ZHUANG ; Guanglin ZHANG ; Xiaoping LAI ; Ting LIU
Chinese Journal of Preventive Medicine 2025;59(10):1665-1675
Objective:To analyze the distribution and epidemiological characteristics of common non-bacterial pathogens in hospitalized children with acute respiratory tract infections(ARTI)from a multi-center study covering 4 regions in Fujian Province in 2023.Methods:A retrospective cohort study was conducted using medical record analysis.A total of 22 769 hospitalized children with ARTI were enrolled from January to December 2023 across seven regional pediatric medical centers in Fujian Province (covering four major geographical divisions of Fuzhou, Nanping, Sanming and Longyan; all selected hospitals were regional children′s medical centers).Using single-tube multiplex PCR with fragment analysis on a Sanger sequencing platform, the nucleic acids of 11 common non-bacterial respiratory pathogens were tested in nasopharyngeal swabs collected from 22 769 children. These pathogens included influenza A virus(FluA), influenza B virus(FluB), parainfluenza virus(PIV), respiratory syncytial virus (RSV), adenovirus (ADV), human rhinovirus (HRV), human bocavirus (HBoV), human coronavirus (HCoV), human metapneumovirus(HMPV), Mycoplasma pneumoniae(MP), and Chlamydia (Ch). Count data were described as [ n(%)], and the chi-square test/Fisher′s exact test was used to compare the differences in rates between groups. Epidemiological features, including positive detection rates, pathogen profiles, and correlations with region, sex, age and month, were analyzed. Results:Among 22 769 children with ARTI, pathogens were detected in 16 213 cases (71.21%), including 13 340 single infections (58.59%).The detection rates of single pathogens in descending order were human rhinovirus (HRV, 12.95%), Mycoplasma pneumoniae(MP, 12.27%), respiratory syncytial virus(RSV, 11.12%), influenza A virus (Flu-A, 7.98%), parainfluenza virus(PIV, 4.66%), human metapneumovirus(HMPV, 4.60%), adenovirus(ADV, 2.70%), human bocavirus(HBoV, 0.84%), human coronavirus(HCoV, 0.82%), influenza B virus(Flu-B, 0.47%) and Chlamydia(Ch, 0.18%).Mixed infections occurred in 2 873 cases(12.62%), primarily dual infections(2 679 cases).Regional analysis revealed significant disparities:Luoyuan County Hospital (Fuzhou) exhibited the highest total detection rate(86.59%, 1 414/1 633)and mixed infection rate(23.27%, 380/1 633)(both P<0.001), with notably elevated MP (26.39%, 431/1 633);Jian′ou City Hospital(Nanping) ranked second for Flu-A(14.21%, 409/2 879), RSV(13.20%, 380/2 879) and mixed infections(17.12%, 493/2 879);Lianjiang County Hospital(Fuzhou) showed distinct prevalence of Flu-A(10.68%, 130/1 217), PIV(6.00%, 73/1 217), and HBoV(1.73%, 21/1 217); Yong′an City Hospital (Sanming) reported high MP (26.07%, 238/913) and RSV(12.38%, 113/913);Shaowu City Hospital(Nanping) was dominated by MP (18.60%, 407/2 188) and HRV(13.39%, 293/2 188); Tingzhou Hospital(Longyan) had the highest HRV (17.88%, 407/2 276) and Flu-B (0.75%, 17/2 276); and Fuzhou Children′s Hospital showed elevated ADV(3.38%, 394/11 663) and HCoV(1.08%, 126/11 663). Except for Flu-B(0.47%, 108/22 769; P=0.054) and Ch(0.18%, 40/22769; P=0.900), all pathogens and mixed infections exhibited significant regional variations ( P<0.05).Gender analysis indicated higher detection rates of HRV, RSV, Flu-A, ADV, PIV, HBoV and mixed infections in males, while MP, HMPV, Flu-B, HCoV, and Ch were more prevalent in females, with statistically significant differences for HRV and MP (both P<0.001). Age stratification showed the highest overall detection rate in the 3-<6 years group (75.48%; P<0.001): RSV and Ch peaked in infants (<1 year), HRV, PIV, ADV and HBoV in toddlers (1-<3 years), HMPV, HCoV, and mixed infections in preschool children (3-<6 years), and MP, Flu-A and Flu-B in older children (6-<18 years).Analyzing the prevalent months, the monthly prevalence trends of pathogens in various regions are similar.Seasonal trends demonstrated year-round HRV activity (peaking in spring/autumn), MP prevalence in autumn/winter, RSV surges in spring-summer (April-June) and late summer-autumn (August-October), and Flu-A predominanced in winter-spring. Conclusion:Multiplex PCR with fragment analysis demonstrated high diagnostic efficacy. The top 4 non-bacterial pathogens in Fujian Province′s ARTI-hospitalized children in 2023 were HRV, MP, RSV and Flu-A. Pathogen distribution exhibited significant regional, age and seasonal variations, emphasizing the need for targeted prevention strategies.
8.Exploration of left ventricular decompression in children undergoing extracorporeal membrane oxygenation
Lijuan LI ; Zhongxuan LAO ; Yuyin YE ; Jiaxin ZHUANG ; Yanqin CUI
Chinese Pediatric Emergency Medicine 2025;32(3):197-201
Objective:To explore the feasibility and efficacy of left ventricular decompression in pediatric patients supported by extracorporeal membrane oxygenation(ECMO).Methods:The clinical data of 15 children who underwent left ventricular decompression during ECMO in the cardiac intensive care unit(CICU)of Guangzhou Women and Children's Medical Center from February 2021 to August 2023 were retrospectively analyzed.Results:Among the 15 patients,there were 8 males and 7 females,with a median age of 1.1 years old(20 days to 15 years old)and a median weight of 8.5(3.1 to 38.0)kg. Cardiac pathologies varied,including hypertrophic obstructive cardiomyopathy(1 case),left coronary artery abnormalities originating from the pulmonary artery(3 cases),aortic coarctation with ventricular septal defect(1 case),complete transposition of great arteries with ventricular septal defect(1 case),ventricular septal defect with severe mitral valve insufficiency(1 case),fulminant myocarditis(5 cases),tetralogy of Fallot(1 case),ascending aortic aneurysm with aortic valve insufficiency(1 case),and Kawasaki disease complicated with giant aneurysm(1 case). The venous-arterial ECMO mode was used in all 15 children,9 cases were intubated centrally and 6 cases were intubated peripherally. The reasons for ECMO:low cardiac output(8 cases),cardiogenic shock(5 cases),and frequent ventricular tachycardia and ventricular fibrillation(2 cases). Extracorporeal cardiopulmonary resuscitation was performed in 3 cases. The median duration of mechanical ventilation was 248 (142-590) h,the median CICU stay was 18 (7-26) d,and the median hospital stay was 28 (7-37) d. Of the 15 children,7 cases underwent emergency left ventricular decompression through a small sternal incision,with a mean decompression time of ECMO-assisted 12.2(9-22) h,and 8 cases underwent selective left ventricular decompression through a median sternal incision. Left ventricular systolic function improved significantly after decompression in all 15 patients,of whom 12 cases were successfully withdrew off ECMO and 10 cases of them survived.Conclusion:Left ventricular decompression can improve the cardiac dysfunction in children with ECMO,reduce the occurrence of complications,and increase the success rate and survival rate of ECMO.
9.A mixed-methods study on the barriers to the application of non-pharmacological prevention evidence for venous thromboembolism in multiple myeloma patients from the perspective of nurses
Xiaoping ZHANG ; Ruo ZHUANG ; Liangying CHEN ; Liqun ZHU ; Lijuan SUN
Chinese Journal of Practical Nursing 2025;41(32):2501-2508
Objective:To explore the barriers to nurses applying the best evidence for non-pharmacologic prophylactic management of venous thromboembolism (VTE) in patients with multiple myeloma (MM), and to provide a basis for the development of clinical responses.Methods:A parallel mixed-methods study was conducted in January 2024 to facilitate the selection of nurses from the hematology department of Affiliated Hospital of Jiangsu University to conduct semi-structured in-depth interviews. Concurrently, convenience sampling was employed to select nursing staff from the same departineat for a quantitative questionnaire survey. The interview outlines based on the theoretical domains framework and the questionnaires based on the Barriers to the Application of the Evidence and Facilitators Scale. The questionnaire was developed based on the Barriers and Facilitators to Evidence Application Scale and combined with qualitative and quantitative analyses to derive barriers to nurses' implementation of best evidence.Results:The qualitative study conducted interviews with 9 female nurses in the hematology department, aged 25-49. The quantitative study surveyed 17 female nurses in the hematology department with an average age of (33.18 ± 9.09) years. Nurses scored high overall in evidence application (156.65 ± 20.09) points, with high scores on the organizational form dimension (34.47 ± 1.48) points, the evidence application leader dimension (44.24 ± 1.30) points, the nurses' team dimension (42.53 ± 1.41) points, and the implementation scenario dimension (11.18 ± 0.61) points, which suggests that nurses were process was well supported overall. Low scores on the evidence dimension (11.94 ± 0.91) points and patient dimension (12.41 ± 1.03) points indicated that nurses had barriers in knowledge acquisition and practical application. The results of qualitative interviews further revealed that nurses encourter multiple challenges when applying best evidence, including insufficient knowledge base, low professional identity within societym, absence of standardized departmental protocols, negative outcome expectations, and inadequate motivation coupled with ulcear objectives.Conclusions:There are multiple clinical factors affecting nurses' application of best evidence, and departments should propose targeted coping strategies based on the barrier factors to ensure the successful implementation of evidence-based practice changes, and thus advance the clinical application of best evidence for non-pharmacological prevention of VTE in MM patients.
10.Two cases of female monozygotic twins with schizophrenia carrying a balanced translocation between 22q11.2 and 4p15.3
Xuyuan YIN ; Chuanwei LI ; Qing YANG ; Yuan CAI ; Wenlong HOU ; Lijuan MAN ; Nannan ZHUANG ; Jiaqi CAO ; Qi QI ; Zhenhua ZHU ; Li HUI
Chinese Journal of Psychiatry 2025;58(1):47-50
Schizophrenia is a common, severe, and complex psychiatric disorder worldwide. Genetic factors account for around 80% of the etiology of schizophrenia, yet objective diagnostic biomarkers remain lacking. This article reports two cases of female monozygotic twins diagnosed with schizophrenia, exhibiting a balanced translocation between 22q11.2 and 4p15.3. Reviewing the literature, we analyze and discuss the correlation between chromosomal balanced translocation regions and the pathogenesis of mental disorders. This aims to encourage psychiatrists to consider new perspectives on the diagnosis of schizophrenia.

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