1.Application of artificial intelligence-assisted chromosome karyotyping analysis in prenatal diagnosis of chromosomal mosaicism.
Ling ZHAO ; Shiwei SUN ; Qinghua ZHENG ; Qing YU ; Chongyang ZHU ; Ling LIU ; Yueli WU
Chinese Journal of Medical Genetics 2026;43(3):180-187
OBJECTIVE:
To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism.
METHODS:
A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01).
RESULTS:
No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360).
CONCLUSION
For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans
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Female
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Mosaicism
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Pregnancy
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Karyotyping/methods*
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Artificial Intelligence
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Prenatal Diagnosis/methods*
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Adult
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Retrospective Studies
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Chromosome Disorders/genetics*
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Amniocentesis
2.Study on secondary metabolites of Penicillium expansum GY618 and their tyrosinase inhibitory activities
Fei-yu YIN ; Sheng LIANG ; Qian-heng ZHU ; Feng-hua YUAN ; Hao HUANG ; Hui-ling WEN
Acta Pharmaceutica Sinica 2025;60(2):427-433
Twelve compounds were isolated from the rice fermentation extracts of
3.Subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets
Qiu-jin QU ; Ling-xiao SUN ; Xiao-fei WANG ; Fu-yu ZHU ; Guo-xi CHE ; Jing XU ; Xiao-yan WANG ; Nai-shui HAN ; Xiao-xia SUN ; Chun-xia QIAO
Chinese Medical Equipment Journal 2025;46(10):29-35
Objective To evaluate the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets using hydroxyethyl starch(HES)130/0.4 sodium chloride injection as an extraction medium.Methods Firstly,40 Sprague Dawley(SD)rats including 20 male and 20 female ones were seleted and randomly enrolled into a sample group and a control group by sex,with 20 ones in each group.Secondly,instead of plasma HES 130/0.4 sodium chloride injection was used to leach disposable plasma virus-inactivated blood transfusion sets to prepare the test solution by simulating clinical application such as lighting,adsorption and filtration and storage.Finally,the test solution and HES 130/0.4 sodium chloride injection were injected into the tail vein of the SD rats at a dose of 20 mL/kg for 28 d in the sample group and in the control group respectively,and the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets and the feasibility of using HES 130/0.4 sodium chloride injection as the extraction medium to assess their subchronic systemic toxicity were evaluated with clinical observation,body mass monitoring,clinical pathology examination,gross necropsy and histopathology examination.Results The sample group and control group had no significant differences in mortality rates,clinical observation results,body mass,gross necropsy results,hematological and coagulation examination results and organ weight(all P>0.05);blood biochemical examinations showed the male rats in the sample group had the cholesterol(CHO)values higher while the creatinine(CR)values lower than those in the control group,with the differences being statistically significant(both P<0.05)and the two indexes within the range of the laboratory's historical reference data,and other blood biochemical indexes were not significantly different(all P>0.05);the sample group had the spleen weight-to-body mass ratios of the female rates lower significantly than those in the control group(P<0.05),and the ratios of other organ weight to body mass had significant differences(all P>0.05);histopathology examination showed slight pathological changes in liver,spleen and kidney of female rats and in spleen and kidney of male rats in the sample group,and the female and male rats in the control group had similar pathological changes found in the sample group,which might be caused by HES metabolites.Conclusion Disposable plasma virus-inactivated blood transfusion sets prove to have no significant subchronic systemic toxicity,and its feasible to use HES 130/0.4 sodium chloride injection as the extraction medium to evaluate the subchronic systemic toxicity of disposable plasma virus-inactivated blood transfusion sets.[Chinese Medical Equipment Journal,2025,46(10):29-35]
4.HDL-C/LDL-C Ratio and All-Cause Mortality in Populations at High CVD Risk: A Prospective Observational Cohort Study
Biting LIN ; Yunzhi LING ; Gengyu ZHOU ; Ziqing RUAN ; Fan CHEN ; Simiao CHEN ; Tingting WENG ; Yuanfan ZHU ; Jingyi LIN ; Ling YU ; Kaiyang LIN
Chronic Diseases and Translational Medicine 2025;11(3):213-223
Background::The ratio of high-density lipoprotein cholesterol (HDL-C) to low-density lipoprotein cholesterol (LDL-C) predicts cardiovascular disease (CVD) endpoints, yet its prognostic validity in high-risk populations and for type 2 diabetes mellitus (T2DM)-related adverse events remains unestablished.Methods::This study included 32,609 people aged 35-75 years in Fujian Province, China, who were at high risk for CVD. The primary endpoint was all-cause mortality during follow-up. Cox proportional hazard models and restricted cubic spline (RCS) analysis were used to evaluate the correlation between the HDL-C/LDL-C ratio and the endpoints.Result::On the basis of the restricted RCS curve, the participants were classified as having a low (< 0.3), middle (0.3-0.5), or high (> 0.5) HDL-C/LDL-C ratio. Multivariate Cox regression analyses revealed that the risk of all-cause mortality (HR = 1.48, 95% CI 1.14-1.93, p < 0.01 for low; HR = 1.30, 95% CI 1.06-1.58, p < 0.05 for high) was increased in the low and high groups. Participants without T2DM who were at high risk for CVD had similar prognoses (HR = 1.65, 95% CI 1.19-2.28, p < 0.01 for low; HR = 1.35, 95% CI 1.05-1.74, p < 0.01 for high). However, this association was not found in participants with T2DM who were at high risk for CVD. Conclusion::HDL-C/LDL-C can be used to predict the prognosis of individuals at high risk for CVD, and maintaining HDL-C/LDL-C ratios between 0.3 and 0.5 may be the most helpful range for this population. Furthermore, maintaining this ratio range holds clinical significance for cohorts without T2DM, although further exploration is needed in this T2DM cohort.
5.Analysis of characteristics of anonymous online dating and related factors of not being tested for HIV among men who have sex with men in Shandong Province
Zhuoma YANGJI ; Xiangdong YOU ; Xiaoyan ZHU ; Ling LI ; Jinhai LI ; Haiying YU ; Guoyong WANG ; Meizhen LIAO ; Wei MA
Chinese Journal of Epidemiology 2025;46(2):252-257
Objective:To analyze the characteristics of anonymous online dating and related factors of not being tested for HIV among men who have sex with men and to provide the basis for developing targeted HIV prevention strategies and intervention measures.Methods:Using a cross-sectional study design, respondents were recruited with the assistance of MSM social organizations from April to July 2023 in eight cities in Shandong Province. Snowball sampling, activity venues, and networks were employed, targeting a sample size of 400 people per city. A face-to-face questionnaire survey collected data on sociodemographic characteristics, drug use, sexual intercourse, and online informed dating. Blood samples were also collected for HIV and syphilis antibody testing.Results:In the past six months, 2 787 MSM sought homosexual partners through the Internet, and 78.26% (2 181/2 787) chose to make anonymous online dating. Before having homosexual sex with online sexual partners, 10.41% (290/2 787) of them did not ask each other about HIV infection status and 33.37% (930/2 787) of them not being tested for HIV. There were statistically significant differences in the distribution of age, marital status, household registration, education level, sexual orientation, ways to find male sexual partners, not asking online sexual partners about their HIV status before sexual intercourse, no mutual HIV testing with online sexual partners before sexual intercourse, and syphilis antibody between anonymous and non-anonymous online dating persons (all P<0.05). The results of multivariate logistic regression analysis showed that <25 years old (a OR=1.43, 95% CI: 1.15-1.77) and ≥35 years old age group (a OR=1.61, 95% CI: 1.29-2.01), people with no AIDS knowledge (a OR=2.37, 95% CI: 1.25-4.49), drug users (a OR=1.38, 95% CI: 1.17-1.63), online dating anonymous (a OR=2.19, 95% CI: 1.76-2.73), HIV antibody positive (a OR=3.61, 95% CI: 2.22-5.88) and no intervention services in the last 1 year (a OR=1.58, 95% CI: 1.05-2.38) were the related factors of MSM not being tested for HIV before having sexual intercourse through online dating. Conclusions:The phenomenon of anonymous online dating was common among MSM in Shandong Province, and the proportion of MSM not being tested for HIV before having sexual intercourse through anonymous online dating was relatively high. It is necessary to strengthen health publicity and promote informed dating in MSM.
6.Progress on the risk factors and pathogenesis of diabetes of the exocrine pancreas
Yingqi LYU ; Zhuanzhuan ZHU ; Li WANG ; Ke SUN ; Guifang XU ; Ting YU ; Ling LI
Chinese Journal of Endocrinology and Metabolism 2025;41(2):164-167
Diabetes of the exocrine pancreas(DEP) refers to a complication of diseases of the exocrine pancreas, associated with an increased risk of pancreatic cancer. Recent evidence has indicated that DEP, after type 2 diabetes, has become the second most common type of adults-onset diabetes, with a higher prevalence than type 1 diabetes. DEP is not a single condition but encompasses various exocrine pancreatic disorders that lead to hyperglycemia through different mechanisms, creating significant diagnostic and therapeutic challenges. This review examines the latest research on the risk factors and pathogenesis of DEP, aiming to provide insights to improve its clinical management strategies.
7.Clinical characteristics of juvenile dermatomyositis in anti-nuclear matrix protein 2 antibody-positive patients and risk factors for severity: a national multicenter retrospective study
Huiyuan YANG ; Wanzhen GUAN ; Ling2 YANG ; Haimei LIU ; Xiaoqing3 LI ; Haiguo YU ; Meiping LU ; Jun YANG ; Xiaohui LIU ; Hongxia ZHANG ; Wei ZHANG ; Jihong XIAO ; Xiaozhong LI ; Guomin LI ; Hong CHANG ; Sheng HAO ; Yue DU ; Daliang XU ; Ling WU ; Wenjie ZHENG ; Li LIU ; Xinhui JIANG ; Shaohui ZHU ; Dongmei ZHAO ; Xuemei TANG ; Li SUN
Chinese Journal of Pediatrics 2025;63(12):1299-1305
Objective:To investigate the clinical characteristics and independent risk factors of severe disease in patients with anti-nuclear matrix protein (NXP) 2 antibody-positive juvenile dermatomyositis (JDM).Methods:A retrospective cohort study was conducted, including 219 anti-NXP2 antibody-positive JDM patients admitted to 23 children′s hospitals across China from July 2011 to July 2023. Patients were classified into severe and non-severe groups based on classification criteria for severe dermatomyositis. Demographic characteristics, clinical manifestations, and laboratory parameters were compared between the 2 groups using independent sample t-test, Mann-Whitney U test, or χ2 test. Univariate and multivariate Logistic regression analyses were performed to identify risk factors for severe disease. The receiver operating characteristic curve was employed to calculate optimal cut-off values. Results:Among the 219 patients, 108 were male and 111 were female, with an age at onset of 6.3 (3.5, 9.4) years. The severe group comprised 69 patients, and the non-severe group 150 patients. The severe group had significantly higher rates of fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, as well as elevated levels of ferritin-to-albumin ratio (FAR), creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) (all P<0.05). Multivariate analysis identified anti-Ro52 antibody positivity ( OR=13.26, 95% CI 1.37-128.29) and elevated FAR ( OR=1.90, 95% CI 1.09-2.31) as independent risk factors for severe anti-NXP2 antibody-positive JDM (both P<0.05). Receiver operating characteristic curve analysis revealed that a FAR cutoff value of 6.82 predicted severe disease with an area under the curve of 0.87 (95% CI 0.81-0.94, P<0.001), sensitivity of 0.85, and specificity of 0.70. All patients received glucocorticoid therapy, and the severe group received higher proportions of steroid pulse therapy, cyclophosphamide, mycophenolate mofetil, intravenous immunoglobulin, biologics, and adjuvant treatments compared to the non-severe group (all P<0.05). In terms of outcomes, 2 patients (2.9%) in the severe group died (due to neurological involvement and intestinal perforation, respectively), while the remaining patients achieved complete clinical response or remission. All patients in the non-severe group achieved remission. Conclusions:The primary clinical features of anti-NXP2 antibody-positive JDM included fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, and elevated levels of CK, AST, LDH, and FAR. Furthermore, anti-Ro52 antibody positivity and a FAR>6.82 were identified as independent risk factors.
8.Prevalence of hospital-associated infections in tertiary psychiatric hospital from 2019 to 2024
Aiqin ZHU ; Ting SHEN ; Ling LI ; Taojing YU ; Liwei LIAO ; Ting SUN ; Xiaosong LENG ; Xuanhong ZHANG
Chinese Journal of Nosocomiology 2025;35(19):2985-2988
OBJECTIVE T o analyze the current situation and characteristics of hospital-associated infection in a psy-chiatric hospital,providing references for formulation of control measures for hospital-associated infection.METHODS A retrospective analysis was conducted on hospital-associated infection data from Shanghai Mental Health Center between Jan.1,2019,and Oct.31,2024.The infection rates and infection sites across different years,patient populations,and departments were analyzed.RESULTS A total of 47 051 inpatients were investiga-ted,with 1 798 cases of hospital-associated infections,resulting in an infection rate of 3.82%.The highest inci-dence rate was observed in 2020(4.13%).The top three departments with the highest incidence rates were the in-fectious disease department(12.13%),geriatric psychiatry(7.67%),and the Traditional Chinese Medicine De-partment department(4.90%).The primary infection sites were the lower respiratory tract(57.06%),urinary tract(18.24%),skin and soft tissue(14.29%).The incidence rate was higher in males(5.32%)than in females(2.72%)(P<0.001).Statistically significant differences were found in the incidence rates among different age groups(P<0.001),with the highest rate observed in patients aged over 90 years(17.11%).The lowest infection rate was found in patients hospitalized for less than 60 days(0.69%),while the highest was in those hospitalized for more than 1 000 days(49.94%).CONCLUSIONS The patients in psychiatric hospitals are susceptible to infec-tions in the respiratory tract,urinary tract,skin and soft tissue.Targeted prevention and control measures can be implemented based on high-risk factors such as age,length of stay,and gender to reduce the occurrence of in-fections.
9.Associations of age and nail-tract bone density with postoperative stability in proximal femoral nail anti-rotation-Ⅱ fixation for geriatric intertrochanteric fractures: a finite-element analysis
Yufeng GE ; Chen YI ; Dongchen YAO ; Yu LI ; Rui ZHANG ; Ling WANG ; Yong XUN ; Minghui YANG ; Shiwen ZHU ; Xinbao WU
Chinese Journal of Orthopaedic Trauma 2025;27(9):806-812
Objective:To investigate how age and nail-tract volumetric bone mineral density (vBMD) are associated with postoperative mechanical performance of proximal femoral nail anti-rotation (PFNA-Ⅱ) fixation for geriatric intertrochanteric fractures using a finite-element analysis.Methods:Fifteen elderly patients with intertrochanteric fracture of the femur were selected for this study. They were 11 females and 4 males and divided into 5 groups based on their ages ( n=3): 55-year-old, 65-year-old, 75-year-old, 85-year-old, and 95-year-old groups. After three-dimensional models of the proximal femur were constructed using the preoperative CT data of their healthy contralateral hip, 31-A1.2 fractures of the AO/OTA type were created and PFNA-Ⅱ fixations simulated. Two loading schemes were created: graded quasi-static axial loads (700 N, 1,400 N, 2,100 N, and 2,800 N) were applied to compute equivalent plastic strain volumes in the femoral head region; displacement-controlled loading was applied to failure to derive load-displacement curves for stiffness and the maximum failure load. Nail-tract vBMD and regional hip vBMDs were measured by quantitative CT. Pearson correlation analysis was conducted to investigate the associations of age and nail-tract vBMD with the aforementioned mechanical indicators. Results:Under the same load, compared with the 55-year-old, 65-year-old, and 75-year-old groups, the plastic strain unit volumes of the fracture models in the 85-year-old and 95-year-old groups increased significantly. Under a load of 700 N, no plastic strain was observed in the fracture models in the 55-year-old, 65-year-old, and 75-year-old groups, while an average plastic strain of approximately 50 mm 3 was observed in the fracture models in the 85-year-old group. Under a load of 2,800 N, the high strain areas in the fracture models in the 85-year-old and 95-year-old groups were mainly concentrated at the tip of the head nail and the junction between the head nail and the main nail. Load-displacement curves showed a marked reduction in the failure load in patients aged ≥85 years. Under loads of 1,400 N, 2,100 N, and 2,800 N, there was a strong association between the nail-tract vBMD and the volume of the plastic strain unit ( r=-0.82, -0.88, -0.89, respectively), which was stronger than those for total-hip vBMD. Conclusions:Finite-element analysis indicates that age and nail-tract vBMD are closely related to local plastic strain and overall stiffness of the proximal femur after PFNA-Ⅱ fixation for the geriatric intertrochanteric fractures. Patients aged ≥85 years old are more prone to plastic yielding, which compromises fixation stability.
10.Synergistic cytotoxic effect of chrysin and venetoclax on AML cells and its mechanism
Yan WANG ; Peixiong ZHU ; Pengyue YANG ; Xiuli WU ; Yangqiu LI ; Xi-bao YU ; Ling XU
Chinese Journal of Pathophysiology 2025;41(7):1300-1307
AIM:This study aims to investigate the synergistic cytotoxic effects of chrysin and venetoclax on acute myeloid leukemia(AML)cells and to elucidate the underlying mechanisms.METHODS:Human AML cell lines MV411 and MOLM13 were cultured in vitro and treated with chrysin in combination with venetoclax.Cell viability was as-sessed using the CCK8 assay,while flow cytometry was employed to measure cell cycle distribution and apoptosis rates.Western blot was used to detect the expression of apoptosis-related proteins and protein kinase B(PKB/Akt)/nuclear factor-κB(NF-κB)signaling pathway-related proteins.RESULTS:The results from the CCK8 assay and flow cytometry demon-strated that treatment with 16 and 32 μmol/L chrysin significantly inhibited the viability of AML cells and increased the proportion of cells in G1 phase,as well as the apoptosis rate.Notably,the cells in combination treatment group exhibited a marked reduction in proliferation and an elevated apoptosis rate compared with either chrysin or venetoclax group alone.Western blot analysis indicated that increasing concentrations of chrysin led to an elevation in cleaved poly(ADP-ribose)polymerase(PARP)level,alongside a down-regulation of proteins associated with the Akt/NF-κB signaling pathway.Fur-thermore,the combination treatment significantly up-regulated cleaved PARP level and down-regulated Akt/NF-κB path-way-related proteins compared with the treatment with chrysin or venetoclax alone.CONCLUSION:Chrysin and veneto-clax synergistically inhibit the proliferation of AML cells and promote apoptosis by modulating the Akt/NF-κB signaling pathway.

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