1.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
2.Expert consensus on ethical requirements for artificial intelligence (AI) processing medical data.
Cong LI ; Xiao-Yan ZHANG ; Yun-Hong WU ; Xiao-Lei YANG ; Hua-Rong YU ; Hong-Bo JIN ; Ying-Bo LI ; Zhao-Hui ZHU ; Rui LIU ; Na LIU ; Yi XIE ; Lin-Li LYU ; Xin-Hong ZHU ; Hong TANG ; Hong-Fang LI ; Hong-Li LI ; Xiang-Jun ZENG ; Zai-Xing CHEN ; Xiao-Fang FAN ; Yan WANG ; Zhi-Juan WU ; Zun-Qiu WU ; Ya-Qun GUAN ; Ming-Ming XUE ; Bin LUO ; Ai-Mei WANG ; Xin-Wang YANG ; Ying YING ; Xiu-Hong YANG ; Xin-Zhong HUANG ; Ming-Fei LANG ; Shi-Min CHEN ; Huan-Huan ZHANG ; Zhong ZHANG ; Wu HUANG ; Guo-Biao XU ; Jia-Qi LIU ; Tao SONG ; Jing XIAO ; Yun-Long XIA ; You-Fei GUAN ; Liang ZHU
Acta Physiologica Sinica 2024;76(6):937-942
As artificial intelligence technology rapidly advances, its deployment within the medical sector presents substantial ethical challenges. Consequently, it becomes crucial to create a standardized, transparent, and secure framework for processing medical data. This includes setting the ethical boundaries for medical artificial intelligence and safeguarding both patient rights and data integrity. This consensus governs every facet of medical data handling through artificial intelligence, encompassing data gathering, processing, storage, transmission, utilization, and sharing. Its purpose is to ensure the management of medical data adheres to ethical standards and legal requirements, while safeguarding patient privacy and data security. Concurrently, the principles of compliance with the law, patient privacy respect, patient interest protection, and safety and reliability are underscored. Key issues such as informed consent, data usage, intellectual property protection, conflict of interest, and benefit sharing are examined in depth. The enactment of this expert consensus is intended to foster the profound integration and sustainable advancement of artificial intelligence within the medical domain, while simultaneously ensuring that artificial intelligence adheres strictly to the relevant ethical norms and legal frameworks during the processing of medical data.
Artificial Intelligence/legislation & jurisprudence*
;
Humans
;
Consensus
;
Computer Security/standards*
;
Confidentiality/ethics*
;
Informed Consent/ethics*
3.Baicalin Prevents Colon Cancer by Suppressing CDKN2A Protein Expression.
Gang-Gang LI ; Xiu-Feng CHU ; Ya-Min XING ; Xia XUE ; Bukhari IHTISHAM ; Xin-Feng LIANG ; Ji-Xuan XU ; Yang MI ; Peng-Yuan ZHENG
Chinese journal of integrative medicine 2024;30(11):1007-1017
OBJECTIVE:
To observe the therapeutic effects and underlying mechanism of baicalin against colon cancer.
METHODS:
The effects of baicalin on the proliferation and growth of colon cancer cells MC38 and CT26. WT were observed and predicted potential molecular targets of baicalin for colon cancer therapy were studied by network pharmacology. Furthermore, molecular docking and drug affinity responsive target stability (DARTS) analysis were performed to confirm the interaction between potential targets and baicalin. Finally, the mechanisms predicted by in silico analyses were experimentally verified in-vitro and in-vivo.
RESULTS:
Baicalin significantly inhibited proliferation, invasion, migration, and induced apoptosis in MC38 and CT26 cells (all P<0.01). Additionally, baicalin caused cell cycle arrest at the S phase, while the G0/G1 phase was detected in the tiny portion of the cells. Subsequent network pharmacology analysis identified 6 therapeutic targets associated with baicalin, which potentially affect various pathways including 39 biological processes and 99 signaling pathways. In addition, molecular docking and DARTS predicted the potential binding of baicalin with cyclin dependent kinase inhibitor 2A (CDKN2A), protein kinase B (AKT), caspase 3, and mitogen-activated protein kinase (MAPK). In vitro, the expressions of CDKN2A, MAPK, and p-AKT were suppressed by baicalin in MC38 and CT26 cells. In vivo, baicalin significantly reduced the tumor size and weight (all P<0.01) in the colon cancer mouse model via inactivating p-AKT, CDKN2A, cyclin dependent kinase 4, cyclin dependent kinase 2, interleukin-1, tumor necrosis factor α, and activating caspase 3 and mouse double minute 2 homolog signaling (all P<0.05).
CONCLUSION
Baicalin suppressed the CDKN2A protein level to prevent colon cancer and could be used as a therapeutic target for colon cancer.
Flavonoids/pharmacology*
;
Colonic Neoplasms/prevention & control*
;
Animals
;
Cell Line, Tumor
;
Molecular Docking Simulation
;
Cell Proliferation/drug effects*
;
Apoptosis/drug effects*
;
Cyclin-Dependent Kinase Inhibitor p16/metabolism*
;
Mice
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Mice, Inbred BALB C
;
Cell Movement/drug effects*
;
Humans
;
Gene Expression Regulation, Neoplastic/drug effects*
;
Cell Cycle Checkpoints/drug effects*
4.Urban-rural disparities of depression symptoms and its influencing factors among the elderly aged ≥65 years old in Anhui Province from 2019 to 2020.
Xiu Ya XING ; Ye Ji CHEN ; Xiao Tong XU ; Hua Dong WANG ; Zhi Rong LIU
Chinese Journal of Preventive Medicine 2023;57(9):1396-1402
Objective: To analyze the difference in depression symptoms and influencing factors between urban and rural elderly people aged ≥65 years old in Anhui Province. Methods: Based on the data from a survey of 68 communities in Anhui Province that implemented the National Elderly Psychological Care Project from 2019 to 2020, the current status of depression symptoms in the elderly was evaluated using the Patient Health Questionnaire-9 (PHQ-9). The difference in the detection rate of depression symptoms between urban and rural elderly people with different characteristics was compared by using the χ2 test. The logistic regression model was used to analyze the relevant factors of depression symptoms in urban and rural elderly people. Results: A total of 15 532 elderly people aged≥65 years old were included in the survey. The detection rate of depressive symptoms was 7.12%, which was higher in rural areas (9.08%) than in urban areas (6.48%). Logistic regression showed that chronic diseases were risk factors for depressive symptoms in elderly people from both urban and rural areas. Positive attitudes towards aging and good mental resilience were protective factors for depressive symptoms in elderly people. Having hobby (OR=0.64, 95%CI: 0.45-0.91), good relationship with children (OR=0.56, 95%CI: 0.41-0.76), good relationship with spouse (OR=0.51, 95%CI: 0.37-0.71), and having at least 6 friends (OR=0.48, 95%CI: 0.32-0.71) were the protective factors for depressive symptoms in urban elderly people. A good relationship with neighbors (OR=0.58, 95%CI: 0.41-0.82) and having 1-2 friends (OR=0.40, 95%CI: 0.25-0.64) were the protective factors for depressive symptoms in rural elderly people. Women (OR=1.49, 95%CI: 1.06-2.10) and higher education level (OR=1.81, 95%CI: 1.19-2.74, compared with illiterate/semi-illiterate in primary school; OR=2.94, 95%CI: 1.82-4.76, compared with illiterate/semi-illiterate in junior high school and above) were the risk factors for depressive symptoms in rural elderly people. Conclusion: There are differences between urban and rural areas in depressive symptoms among elderly people in Anhui Province. The detection rate of depression symptoms among rural elderly people is higher, and the influencing factors of depressive symptoms between urban and rural elderly people are also different, which should be treated specifically in the implementation of intervention measures.
Child
;
Aged
;
Humans
;
Female
;
Depression/epidemiology*
;
Logistic Models
;
Risk Factors
;
Schools
5.Urban-rural disparities of depression symptoms and its influencing factors among the elderly aged ≥65 years old in Anhui Province from 2019 to 2020.
Xiu Ya XING ; Ye Ji CHEN ; Xiao Tong XU ; Hua Dong WANG ; Zhi Rong LIU
Chinese Journal of Preventive Medicine 2023;57(9):1396-1402
Objective: To analyze the difference in depression symptoms and influencing factors between urban and rural elderly people aged ≥65 years old in Anhui Province. Methods: Based on the data from a survey of 68 communities in Anhui Province that implemented the National Elderly Psychological Care Project from 2019 to 2020, the current status of depression symptoms in the elderly was evaluated using the Patient Health Questionnaire-9 (PHQ-9). The difference in the detection rate of depression symptoms between urban and rural elderly people with different characteristics was compared by using the χ2 test. The logistic regression model was used to analyze the relevant factors of depression symptoms in urban and rural elderly people. Results: A total of 15 532 elderly people aged≥65 years old were included in the survey. The detection rate of depressive symptoms was 7.12%, which was higher in rural areas (9.08%) than in urban areas (6.48%). Logistic regression showed that chronic diseases were risk factors for depressive symptoms in elderly people from both urban and rural areas. Positive attitudes towards aging and good mental resilience were protective factors for depressive symptoms in elderly people. Having hobby (OR=0.64, 95%CI: 0.45-0.91), good relationship with children (OR=0.56, 95%CI: 0.41-0.76), good relationship with spouse (OR=0.51, 95%CI: 0.37-0.71), and having at least 6 friends (OR=0.48, 95%CI: 0.32-0.71) were the protective factors for depressive symptoms in urban elderly people. A good relationship with neighbors (OR=0.58, 95%CI: 0.41-0.82) and having 1-2 friends (OR=0.40, 95%CI: 0.25-0.64) were the protective factors for depressive symptoms in rural elderly people. Women (OR=1.49, 95%CI: 1.06-2.10) and higher education level (OR=1.81, 95%CI: 1.19-2.74, compared with illiterate/semi-illiterate in primary school; OR=2.94, 95%CI: 1.82-4.76, compared with illiterate/semi-illiterate in junior high school and above) were the risk factors for depressive symptoms in rural elderly people. Conclusion: There are differences between urban and rural areas in depressive symptoms among elderly people in Anhui Province. The detection rate of depression symptoms among rural elderly people is higher, and the influencing factors of depressive symptoms between urban and rural elderly people are also different, which should be treated specifically in the implementation of intervention measures.
Child
;
Aged
;
Humans
;
Female
;
Depression/epidemiology*
;
Logistic Models
;
Risk Factors
;
Schools
6.Relationship of Microvascular Obstruction with Global and Regional Myocardial Function Determined by Cardiac Magnetic Resonance after ST-Segment Elevation Myocardial Infarction.
Ya-Nan ZHAO ; Jia-Ning CUI ; Xing-Hua ZHANG ; Jin-Feng LI ; Shi-Min CHEN ; Xiu-Zheng YUE ; Tao LI
Chinese Medical Sciences Journal 2023;38(1):11-19
Objective To investigate the impact of microvascular obstruction (MVO) on the global and regional myocardial function by cardiac magnetic resonance feature-tracking (CMR-FT) in ST-segment-elevation myocardial infarction (STEMI) patients after percutaneous coronary intervention.Methods Consecutive acute STEMI patients who underwent cardiac magnetic resonance imaging 1 - 7 days after successful reperfusion by percutaneous coronary intervention treatment were included in this retrospective study. Based on the presence or absence of MVO on late gadolinium enhancement images, patients were divided into groups with MVO and without MVO. The infarct zone, adjacent zone, and remote zone were determined based on a myocardial 16-segment model. The radial strain (RS), circumferential strain (CS), and longitudinal strain (LS) of the global left ventricle (LV) and the infarct, adjacent, and remote zones were measured by CMR-FT from cine images and compared between patients with and without MVO using independent-samples t-test. Logistic regression analysis was used to assess the association of MVO with the impaired LV function.Results A total of 157 STEMI patients (mean age 56.66 ± 11.38 years) were enrolled. MVO was detected in 37.58% (59/157) of STEMI patients, and the mean size of MVO was 3.00 ±3.76 mL. Compared with patients without MVO (n =98 ), the MVO group had significantly reduced LV global RS (t= -4.30, P < 0.001), global CS (t= 4.99, P < 0.001), and global LS ( t= 3.51, P = 0.001). The RS and CS of the infarct zone in patients with MVO were significantly reduced (t= -3.38, P = 0.001; t= 2.64, P = 0.01; respectively) and the infarct size was significantly larger (t= 8.37, P < 0.001) than that of patients without MVO. The presence of LV MVO [OR= 4.10, 95%CI: 2.05 - 8.19, P<0.001) and its size [OR=1.38, 95%CI: 1.10-1.72, P=0.01], along with the heart rate and LV infarct size were significantly associated with impaired LV global CS in univariable Logistic regression analysis, while only heart rate (OR=1.08, 95%CI: 1.03 - 1.13, P=0.001) and LV infarct size (OR=1.10, 95%CI: 1.03 - 1.16, P=0.003) were independent influencing factors for the impaired LV global CS in multivariable Logistic regression analysis.Conclusion The infarct size was larger in STEMI patients with MVO, and MVO deteriorates the global and regional LV myocardial function.
Humans
;
Middle Aged
;
Aged
;
ST Elevation Myocardial Infarction/complications*
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Contrast Media
;
Retrospective Studies
;
Gadolinium
;
Magnetic Resonance Imaging
;
Magnetic Resonance Spectroscopy
;
Percutaneous Coronary Intervention
7.Response characteristics of tislelizumab combined with chemotherapy in first-line treatment of locally advanced or metastatic non-squamous non-small cell lung cancer.
Shun LU ; Xin Min YU ; Yan Ping HU ; Zhi Yong MA ; Xing Ya LI ; Wei Dong LI ; Yun Peng LIU ; Dong WANG ; Xiu Wen WANG ; Zhe Hai WANG ; Jing Xun WU ; Dian Sheng ZHONG ; Gao Feng LI ; Wan Yu HE ; Yuan Yuan BAO ; Yuan YUAN ; Jing Hui FAN
Chinese Journal of Oncology 2023;45(4):358-367
Objective: To investigate the response characteristics of patients with locally advanced/metastatic non-squamous non-small cell lung cancer (nsq-NSCLC) treated with tislelizumab in combination with chemotherapy in the first line. Methods: Patients with nsq-NSCLC who achieved complete or partial remission after treatment with tislelizumab in combination with chemotherapy or chemotherapy alone in the RATIONALE 304 study, as assessed by an independent review board, were selected to analyze the response characteristics and safety profile of the responders. Time to response (TTR) was defined as the time from randomization to the achievement of first objective response. Depth of response (DpR) was defined as the maximum percentage of tumor shrinkage compared with the sum of the baseline target lesion length diameters. Results: As of January 23, 2020, 128 patients treated with tislelizumab in combination with chemotherapy achieved objective tumor response (responders), representing 57.4%(128/223) of the intention-to-treat population, with a TTR of 5.1 to 33.3 weeks and a median TTR of 7.9 weeks. Of the responders (128), 50.8%(65) achieved first remission at the first efficacy assessment (week 6), 31.3%(40) at the second efficacy assessment (week 12), and 18.0%(23) at the third and subsequent tumor assessments. The percentages of responders who achieved a depth of tumor response of 30% to <50%, 50% to <70% and 70% to 100% were 45.3%(58/128), 28.1%(36/128) and 26.6%(34/128), respectively, with median progression-free survival (PFS) of 9.0 months (95% CI: 7.7 to 9.9 months), 11.5 months (95% CI: 7.7 months to not reached) and not reached (95% CI: 11.8 months to not estimable), respectively. Tislelizumab plus chemotherapy were generally well tolerated in responders with similar safety profile to the overall safety population. Conclusion: Among responders to tislelizumab in combination with chemotherapy for nsq-NSCLC, 82.0%(105/128) achieves response within the first two tumor assessments (12 weeks) and 18.0%(23/128) achieves response at later (18 to 33 weeks) assessments, and there is a trend toward prolonged PFS in responders with deeper tumor response.
Humans
;
Antibodies, Monoclonal, Humanized/therapeutic use*
;
Antineoplastic Combined Chemotherapy Protocols/adverse effects*
;
Carcinoma, Non-Small-Cell Lung/pathology*
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Lung Neoplasms/pathology*
;
Treatment Outcome
8.Clinical Analysis of Elderly Patients with AML/High-Risk MDS.
Wen-Yan XU ; Fang WANG ; Li LIU ; Xiu-Hong REN ; Ping-Ping LIU ; Hao ZHANG ; Li ZHENG ; Song-Song ZHANG ; Ya-Ru XU ; Zhen-Xing GUO
Journal of Experimental Hematology 2022;30(5):1311-1317
OBJECTIVE:
To analyze the clinical features of acute myeloid leukemia (AML)/high-risk myelodysplastic syndrome (MDS) patients aged over 60 years old.
METHODS:
The clinical data of 61 elderly newly diagnosed patients with AML and high-risk MDS who submitted to the Department of Hematology/Oncology of the First Affiliated Hospital of Tsinghua University from January 2009 to April 16, 2021 were retrospectively analyzed. These patients were divided into chemotherapy group (45 cases) and supportive treatment group (16 cases). The overall survival (OS) was analyzed by Kaplan-Meier method, and the prognostic factors of survival were analyzed by multivariate Cox regression.
RESULTS:
After 2 cycles of induction chemotherapy, the complete remission (CR) rate was 37.8% (17/45), and overall response rate was 62.2% (28/45) in the chemotherapy group. The median OS in the chemotherapy group and supportive treatment group was 11.3 (0.07-43) and 1.6 (0.33-7.72) months, respectively (P<0.001). The median OS in patients who reached CR or did not reach after 1 cycle of induction chemotherapy was 19.8 (10-30.63) and 8.17 (0.07-43) months, respectively (P<0.05), while after 2 cycles was 22.7 (4.2-43) and 7.26 (0.07-26) months, respectively (P<0.001). Univariate analysis showed that age > 80 years old, CCI score > 2, PS score > 2 and supportive treatment were the adverse prognostic factors for OS. Further multivariate analysis suggested that chemotherapy was the only independent prognostic factor for OS (HR=0.140, 95%CI: 0.048-0.409, P<0.001). In the chemotherapy group, univariate analysis showed that CCI score > 2 and failure to reach CR after induction chemotherapy were poor prognostic factors. Multivariate analysis showed that CCI score > 2 (HR=0.139, 95%CI: 0.050-0.384, P<0.001) and failure to achieve CR after induction chemotherapy (HR=0.103, 95%CI: 0.041-0.259, P<0.001) were the adverse prognostic factors for OS. The patients were tolerant to side-effect of chemotherapy.
CONCLUSION
Appropriate chemotherapy can prolong the survival of elderly patients with AML and high-risk MDS.
Aged
;
Aged, 80 and over
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
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Humans
;
Induction Chemotherapy
;
Leukemia, Myeloid, Acute/drug therapy*
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Middle Aged
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Prognosis
;
Remission Induction
;
Retrospective Studies
9.A cross-sectional study of prevalence of chronic kidney disease and related factors in adults in Anhui province.
Wei XU ; Xiu Ya XING ; Jing Qiao XU ; Dan CAO ; Qin HE ; Dan DAI ; Shang Chun JIA ; Qian Yao CHENG ; Yi Li LYU ; Luan ZHANG ; Ling LIANG ; Guo Die XIE ; Ye Ji CHEN ; Hua Dong WANG ; Zhi Rong LIU
Chinese Journal of Epidemiology 2022;43(11):1717-1723
Objective: To understand the prevalence of chronic kidney disease (CKD) and related factors in adults in Anhui province based on the data of Chinese Chronic Diseases and Nutrition Surveillance program (2018) in Anhui. Methods: Multi-stage stratified cluster random sampling was used to select participants aged ≥18 years. Moreover, questionnaire survey, body measurements and laboratory tests were conducted. The complex weighting method was used to estimate the prevalence of CKD in residents with different characteristics, and complex sampling data logistic regression model was used for multivariate analysis to identify related risk factors. Results: A total of 7 181 participants were included. The overall prevalence of CKD was 11.06% in adults in Anhui, and the prevalence was 12.49% in women and 9.59% in men (P<0.05). The moderate, high and very high risk for CKD progression were 8.66%, 2.02% and 0.38%, respectively. Multivariate analysis showed that age (OR=1.03, 95%CI: 1.00-1.05), BMI (OR=1.05, 95%CI: 1.01-1.09), being woman (OR=1.38,95%CI: 1.22-1.55), hypertension (OR=2.50, 95%CI: 1.76-3.56), diabetes (OR=2.28, 95%CI: 1.51-3.43), dyslipidemia (OR=1.26, 95%CI: 1.11-1.43) and hyperuricemia (OR=2.16, 95%CI: 1.68-2.78) were risk factors for CKD. Conclusion: The prevalence of CKD in adults in Anhui was relatively high and age, gender, BMI, hypertension, diabetes, dyslipidemia and hyperuricemia were found to be associated with the prevalence of CKD. To prevent CKD and its complications, attention should be paid to the management of related risk factors, including overweight and obesity, hypertension, diabetes, dyslipidemia and hyperuricemia.
Adult
;
Male
;
Female
;
Humans
;
Adolescent
;
Cross-Sectional Studies
;
Prevalence
;
Hyperuricemia/epidemiology*
;
Renal Insufficiency, Chronic/epidemiology*
;
Hypertension/epidemiology*
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Child
;
China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
;
Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*

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