1.Precise identification of a cryptic balanced translocation in a couple with recurrent spontaneous abortions using C-MoKa technique.
Rui FAN ; Yaru LIU ; Tingting JI ; Xiaojuan XU ; Xuening DING ; Xiaoling MA
Chinese Journal of Medical Genetics 2026;43(1):64-69
OBJECTIVE:
Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive guidance.
METHODS:
A couple presented at the Reproductive Medicine Center of the First Hospital of Lanzhou University in 2023 was selected as the study subject. Through C-MoKa testing, copy number variation sequencing (CNV-seq), and preimplantation genetic testing for aneuploidy (PGT-A), it was found that the couple's repeatedly miscarried fetuses and abnormal embryos exhibited highly similar chromosomal structural abnormalities. Using C-MoKa, the potential genetic abnormalities in both partners were traced, and reproductive guidance was provided based on the result. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-09).
RESULTS:
CNV-seq analysis of the couple's miscarriage fetal chorionic villi showed del(18)(q21.2q23)(28.90 Mb) and dup(13)(q31.2q34)(26.26 Mb). Chromosomal karyotyping analysis of both partners showed no abnormality. From 2024 to 2025, the couple underwent three rounds of PGT-A assisted reproduction. The first embryo test showed del(13)(q31.2q34)(26.77 Mb) and dup(18)(q21.2q23)(29.08 Mb). The second embryo test showed dup(13)(q31.2q34)(26.26 Mb) and del(18)(q21.2q23)(28.90 Mb). And the third embryo test results showed complex chromosomal abnormalities. In 2025, after genetic counseling, the couple had opted C-MoKa test, which has detected no abnormality in the wife, but a balanced 46,XY,t(13;18)(q31.2;q21.2) translocation in the husband.
CONCLUSION
As a high-throughput sequencing method based on the three-dimensional conformation of chromatin, C-MoKa has the advantages of high resolution and high accuracy, and can accurately detect balanced translocations with similar banding patterns. It has therefore offered a powerful new tool for chromosomal analysis.
Female
;
Humans
;
Male
;
Pregnancy
;
Abortion, Habitual/genetics*
;
DNA Copy Number Variations
;
Karyotyping/methods*
;
Preimplantation Diagnosis
;
Translocation, Genetic
2.Effect of Yifei Jianpi Prescription on Lipopolysaccharide-induced Lung Immune Inflammatory Response in Rats Based on STAT1/IRF3 Pathway
Hongjuan YANG ; Yaru YANG ; Yujie YANG ; Zhongbo ZHU ; Quan MA ; Yanlin WU ; Hongmei LI ; Xuhui ZHANG ; Xiping LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):146-155
ObjectiveTo observe the effect of Yifei Jianpi prescription on the of signal transducer and activator of transcription protein 1 (STAT1)/interferon regulatory factor 3 (IRF3) signaling pathway in a pneumonia model induced by lipopolysaccharide (LPS) and to explore the mechanism of Yifei Jianpi prescription in improving lung immune and inflammatory responses. MethodsSixty male SPF SD rats were used in this study. Ten rats were randomly assigned to the normal control group, and the remaining 50 were instilled with LPS in the trachea to establish a pneumonia model. After successful modeling, the rats were randomly divided into the model group, dexamethasone group (0.5 mg·kg-1), and Yifei Jianpi prescription high-dose (12 mg·kg-1), medium-dose (6 mg·kg-1), and low-dose (3 mg·kg-1) groups, with 10 rats in each group. Treatment was administered once daily, and the normal control and model groups received the same volume of normal saline. After 14 days, flow cytometry was used to detect the classification of whole blood lymphocytes. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum levels of immunoglobulin G (IgG), immunoglobulin A (IgA), immunoglobulin M (IgM), and the content of tumor necrosis factor-α (TNF-α), interleukin-8 (IL-8), interleukin-6 (IL-6), and interleukin-10 (IL-10) in alveolar lavage fluid (BALF). Hematoxylin-eosin (HE) staining was used to observe lung tissue pathology and score the damage. Thymus weight, spleen weight, and wet-to-dry weight ratio (W/D) were recorded. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was used to detect the mRNA expression of STAT1, IRF3, IL-6, and interferon-alpha (IFN-α) in lung tissues, while Western blot was performed to assess the protein expression of STAT1, IRF3, IL-6, and IFN-α. ResultsCompared with the normal control group, the model group showed significantly increased proportion of B lymphocytes in peripheral blood, decreased proportions of NK cells and CD4+/CD8+ (P<0.05, P<0.01), decreased serum levels of IgG and IgA, significantly increased IgM levels (P<0.01), significantly elevated content of TNF-α, IL-6, and IL-8 in BALF, and significantly decreased IL-10 levels (P<0.01). Lung tissue damage was evident, with significant increases in thymus and spleen weights and a higher W/D ratio (P<0.01). The mRNA and protein expression of STAT1, IRF3, IFN-α, and IL-6 in lung tissues was significantly upregulated (P<0.05,P<0.01). Compared with the model group, the Yifei Jianpi prescription groups showed significantly reduced proportions of B lymphocytes in peripheral blood, increased proportions of NK cells and CD4+/CD8+ ratios (P<0.05, P<0.01), significantly increased serum levels of IgG and IgA, significantly decreased IgM levels (P<0.05, P<0.01), significantly reduced levels of TNF-α, IL-6, and IL-8 in BALF, and significantly increased IL-10 levels (P<0.01). Lung tissue damage was alleviated, thymus and spleen weights were significantly reduced, and the W/D ratio was markedly decreased (P<0.01). The mRNA and protein expression of STAT1, IRF3, IFN-α, and IL-6 in lung tissues was significantly downregulated (P<0.05, P<0.01). ConclusionYifei Jianpi prescription can alleviate lung tissue damage and improve immune and inflammatory responses in LPS-induced pneumonia rats. The mechanism may be related to the inhibition of STAT1/IRF3 signaling pathway activation.
3.Neuroticism is associated with future disease and mortality risks.
Shuyi HUANG ; Yaru ZHANG ; Lingzhi MA ; Bangsheng WU ; Jianfeng FENG ; Wei CHENG ; Jintai YU
Chinese Medical Journal 2025;138(11):1355-1366
BACKGROUND:
Neuroticism has been associated with numerous health outcomes. However, most research has focused on a single specific disorder and has produced controversial results, particularly regarding mortality risk. Here, we aimed to examine the association of neuroticism with morbidity and mortality and to elucidate how neuroticism affects trajectories from a healthy state, to one or more neuroticism-related disorders, and subsequent mortality risk.
METHODS:
We included 483,916 participants from the UK Biobank at baseline (2006-2010). Neuroticism was measured using the Eysenck Personality Questionnaire. Three clusters were constructed, including worry, depressed affect, and sensitivity to environmental stress and adversity (SESA). Cox proportional hazards regression and multistate models were used. Linear regression was used to examine the association between neuroticism and immune parameters and neuroimaging measures.
RESULTS:
High neuroticism was associated with 37 non-overlapping diseases, including increased risk of infectious, cardiometabolic, neuropsychiatric, digestive, and respiratory diseases, and decreased risk of cancer. After adjustment for sociodemographic variables, physical measures, healthy behaviors, and baseline diagnoses, moderate-to-high neuroticism was associated with a decreased risk of all-cause mortality. In multistate models, high neuroticism was associated with an increased risk of transitions from a healthy state to a first neuroticism-related disease (hazard ratio [HR] [95% confidence interval (CI)] = 1.09 [1.05-1.13], P <0.001) and subsequent transitions to multimorbidity (1.08 [1.02-1.14], P = 0.005), but was associated with a decreased risk of transitions from multimorbidity to death (0.90 [0.84-0.97], P for trend = 0.006). The leading neuroticism cluster showing a detrimental role in the health-illness transition was depressed affect, which correlated with higher amygdala volume and lower insula volume. The protective effect of neuroticism against mortality was mainly contributed by the SESA cluster, which, unlike the other two clusters, did not affect the balance between innate and adaptive immunity.
CONCLUSION
This study provides new insights into the differential role of neuroticism in health outcomes and into new perspectives for establishing mortality prevention programs for patients with multimorbidity.
Humans
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Neuroticism/physiology*
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Male
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Female
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Middle Aged
;
Aged
;
Proportional Hazards Models
;
Surveys and Questionnaires
;
Adult
;
Risk Factors
4.Determination of radionuclide levels in food and assessment of effective dose in Beijing, China
Huan WANG ; Yaru SUN ; Meinan YAO ; Yongzhong MA ; Shuchang YAN ; Hui ZHANG ; Zhen WU ; Bin BAI
Chinese Journal of Radiological Health 2025;34(5):733-739
Objective To investigate the levels of radionuclides in food in Beijing, China, and assess the committed effective dose to local residents from food intake. Methods From 2021 to 2022, a total of 65 food samples across 7 categories were collected in Beijing. The activity concentrations of radionuclides, including 137Cs, 210Pb, 238U, 228Ra, 226Ra, 40K, 90Sr, 210Po, 3H and 14C, were measured using gamma spectrometry and radiochemical methods. By combining the monitoring results with dietary consumption data of Beijing residents and the internal dose coefficients for Chinese reference adult phantom, the committed effective dose was estimated. Results The levels of radionuclides in food in Beijing were within the normal background range, consistent with related surveys in China and abroad, with activity concentrations below national standard limits. No significant differences were found in the activity concentrations of 137Cs, 238U, 228Ra, 226Ra and 40K between food samples collected from key areas and those from control areas (P > 0.05). The committed effective doses calculated according to internal dose coefficients for Chinese reference adult male phantom and GB 18871-2002 were 0.26 mSv and 0.19 mSv, respectively. Based on the Chinese reference adult male phantom, the majority of the committed effective dose was attributed to 210Pb (45.1%), 228Ra (37.1%), 210Po (12.3%), and 226Ra (4.7%). Conclusion The levels of radionuclides in food in Beijing fluctuated within the background range, resulting in a low radiation dose burden to the population.
5.Effects and mechanisms of the kidney-reinforcing and blood circulation-activating and collateral dredging decoction metabolites on the proliferation of multiple myeloma KM3 cells
Jingbo SHI ; Changnian LI ; Wenjian WEI ; Jiyuan DING ; Guodong MA ; Lulu LI ; Yaru WANG ; Yitong LU ; Jie XU ; Wei ZHENG ; Yan WANG ; Jingyi WANG ; Ruirong XU ; Siyuan CUI
Chinese Journal of Hematology 2025;46(7):647-654
Objective:To evaluate the effects and underlying mechanisms of metabolites derived from the kidney-reinforcing, blood circulation-activating, and collateral dredging decoction on the proliferation of multiple myeloma (MM) KM3 cells.Methods:MM KM3 cells in the logarithmic growth phase were treated with 3%, 6%, 9%, or 12% metabolites of kidney-reinforcing, blood circulation-activating, and collateral dredging decoction. Cell viability was assessed using the CCK-8 assay. Apoptosis and necrosis were evaluated using flow cytometry and TUNEL staining. Mitochondrial and cellular ultrastructural changes were examined using transmission electron microscopy. mRNA and protein expression levels of dynamin-related protein 1 (Drp1), mitochondrial fission protein 1 (Fis1), mitochondrial fission factor (MFF), PTEN-induced kinase 1 (Pink1), and E3 ubiquitin ligase (Parkin) were determined through quantitative real-time PCR and western blotting. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) combined with network pharmacology, was utilized for reverse verification of the pharmacodynamic mechanisms and therapeutic targets underlying the anti-MM activity of this decoction.Results:The metabolites of the kidney-reinforcing, blood circulation-activating, and collateral dredging decoction inhibited KM3 cell proliferation and induced apoptosis in a dose-dependent manner. Transmission electron microscopy revealed increased mitochondrial fission and autophagic structures, with effects intensifying at higher metabolite concentrations. mRNA and protein expression of Drp1, Fis1, MFF, Pink1, and Parkin were significantly upregulated in treatment groups compared to controls ( P<0.05), with the most pronounced effects observed in the 12% metabolite group ( P<0.01). HPLC-MS/MS identified 121 bioactive compounds in BHTF, which shared 474 overlapping targets with MM. Enrichment analysis suggested that BHTF exerts antitumor effects primarily through apigenin, palmatine, and other key components by modulating TNF, NF-κB, and mitophagy pathways. Conclusion:The kidney-reinforcing and blood circulation-activating and collateral dredging decoction suppresses the proliferation of MM KM3 cells, potentially through mechanisms involving the regulation of mitochondrial dynamics and induction of autophagy.
6.The influence of charismatic leadership on clinical nurses' organizational silence behavior: the chain mediating role of positive coping and organizational climate
Ying XIONG ; He CUI ; Ying XIE ; Yaru MA ; Yidan QIN
Chinese Journal of Modern Nursing 2025;31(8):1032-1039
Objective:To explore the chain mediating role of positive coping and organizational climate in the relationship between charismatic leadership and clinical nurses' organizational silence behavior.Methods:This study was a cross-sectional research. A convenience sampling method was used to select 236 clinical nurses from the First Affiliated Hospital of Zhengzhou University from April to May 2024. The Conger-Kanungo Charismatic Leadership Scale, Simplified Coping Style Questionnaire (positive coping), Organizational Climate Scale, Nurse Organizational Silence Evaluation Questionnaire were administered to the nurses. Harman's single-factor test was used to examine common method bias, while Spearman's correlation analysis was employed to analyze the relationships among charismatic leadership, positive coping, organizational climate, and organizational silence behavior. The chain mediating effect of positive coping and organizational climate between charismatic leadership and organizational silence behavior was tested using Model 6 in SPSS PROCESS macro.Results:A total of 248 questionnaires were retrieved, with 236 valid responses, yielding an effective response rate of 95.16%. The common method bias test revealed that 7 factors with eigenvalues greater than 1 were extracted, with the first factor explaining 26.19% of the variance, which was below the critical value of 40%. Correlation analysis showed that charismatic leadership, positive coping, and organizational climate were positively correlated with each other ( P<0.05), and organizational silence behavior was negatively correlated with charismatic leadership, positive coping, and organizational climate ( P<0.05). The mediating effect analysis showed that charismatic leadership could directly affect nurses' organizational silence behavior ( β=-0.138, P<0.01), and could also affect nurses' organizational silence behavior through three mediating paths: charismatic leadership→positive coping→nurses' organizational silence behavior, with an effect value of -0.205, accounting for 46.91% (-0.205/ -0.437) of the total effect; charismatic leadership→organizational climate→nurses' organizational silence behavior, with an effect value of -0.073, accounting for 16.70% (-0.073/-0.437) of the total effect; charismatic leadership→positive coping→organizational climate→nurses' organizational silence behavior, with an effect value of -0.021, accounting for 4.81% (-0.021/-0.437) of the total effect. The total mediating effect was -0.299, accounting for 68.42% (-0.299/-0.437) of the total effect. Conclusions:Charismatic leadership not only directly influences nurses' organizational silence behavior but also has an indirect impact through the mediating effects of positive coping and organizational climate.
7.The influence of charismatic leadership on clinical nurses' organizational silence behavior: the chain mediating role of positive coping and organizational climate
Ying XIONG ; He CUI ; Ying XIE ; Yaru MA ; Yidan QIN
Chinese Journal of Modern Nursing 2025;31(8):1032-1039
Objective:To explore the chain mediating role of positive coping and organizational climate in the relationship between charismatic leadership and clinical nurses' organizational silence behavior.Methods:This study was a cross-sectional research. A convenience sampling method was used to select 236 clinical nurses from the First Affiliated Hospital of Zhengzhou University from April to May 2024. The Conger-Kanungo Charismatic Leadership Scale, Simplified Coping Style Questionnaire (positive coping), Organizational Climate Scale, Nurse Organizational Silence Evaluation Questionnaire were administered to the nurses. Harman's single-factor test was used to examine common method bias, while Spearman's correlation analysis was employed to analyze the relationships among charismatic leadership, positive coping, organizational climate, and organizational silence behavior. The chain mediating effect of positive coping and organizational climate between charismatic leadership and organizational silence behavior was tested using Model 6 in SPSS PROCESS macro.Results:A total of 248 questionnaires were retrieved, with 236 valid responses, yielding an effective response rate of 95.16%. The common method bias test revealed that 7 factors with eigenvalues greater than 1 were extracted, with the first factor explaining 26.19% of the variance, which was below the critical value of 40%. Correlation analysis showed that charismatic leadership, positive coping, and organizational climate were positively correlated with each other ( P<0.05), and organizational silence behavior was negatively correlated with charismatic leadership, positive coping, and organizational climate ( P<0.05). The mediating effect analysis showed that charismatic leadership could directly affect nurses' organizational silence behavior ( β=-0.138, P<0.01), and could also affect nurses' organizational silence behavior through three mediating paths: charismatic leadership→positive coping→nurses' organizational silence behavior, with an effect value of -0.205, accounting for 46.91% (-0.205/ -0.437) of the total effect; charismatic leadership→organizational climate→nurses' organizational silence behavior, with an effect value of -0.073, accounting for 16.70% (-0.073/-0.437) of the total effect; charismatic leadership→positive coping→organizational climate→nurses' organizational silence behavior, with an effect value of -0.021, accounting for 4.81% (-0.021/-0.437) of the total effect. The total mediating effect was -0.299, accounting for 68.42% (-0.299/-0.437) of the total effect. Conclusions:Charismatic leadership not only directly influences nurses' organizational silence behavior but also has an indirect impact through the mediating effects of positive coping and organizational climate.
8.Effects and mechanisms of the kidney-reinforcing and blood circulation-activating and collateral dredging decoction metabolites on the proliferation of multiple myeloma KM3 cells
Jingbo SHI ; Changnian LI ; Wenjian WEI ; Jiyuan DING ; Guodong MA ; Lulu LI ; Yaru WANG ; Yitong LU ; Jie XU ; Wei ZHENG ; Yan WANG ; Jingyi WANG ; Ruirong XU ; Siyuan CUI
Chinese Journal of Hematology 2025;46(7):647-654
Objective:To evaluate the effects and underlying mechanisms of metabolites derived from the kidney-reinforcing, blood circulation-activating, and collateral dredging decoction on the proliferation of multiple myeloma (MM) KM3 cells.Methods:MM KM3 cells in the logarithmic growth phase were treated with 3%, 6%, 9%, or 12% metabolites of kidney-reinforcing, blood circulation-activating, and collateral dredging decoction. Cell viability was assessed using the CCK-8 assay. Apoptosis and necrosis were evaluated using flow cytometry and TUNEL staining. Mitochondrial and cellular ultrastructural changes were examined using transmission electron microscopy. mRNA and protein expression levels of dynamin-related protein 1 (Drp1), mitochondrial fission protein 1 (Fis1), mitochondrial fission factor (MFF), PTEN-induced kinase 1 (Pink1), and E3 ubiquitin ligase (Parkin) were determined through quantitative real-time PCR and western blotting. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) combined with network pharmacology, was utilized for reverse verification of the pharmacodynamic mechanisms and therapeutic targets underlying the anti-MM activity of this decoction.Results:The metabolites of the kidney-reinforcing, blood circulation-activating, and collateral dredging decoction inhibited KM3 cell proliferation and induced apoptosis in a dose-dependent manner. Transmission electron microscopy revealed increased mitochondrial fission and autophagic structures, with effects intensifying at higher metabolite concentrations. mRNA and protein expression of Drp1, Fis1, MFF, Pink1, and Parkin were significantly upregulated in treatment groups compared to controls ( P<0.05), with the most pronounced effects observed in the 12% metabolite group ( P<0.01). HPLC-MS/MS identified 121 bioactive compounds in BHTF, which shared 474 overlapping targets with MM. Enrichment analysis suggested that BHTF exerts antitumor effects primarily through apigenin, palmatine, and other key components by modulating TNF, NF-κB, and mitophagy pathways. Conclusion:The kidney-reinforcing and blood circulation-activating and collateral dredging decoction suppresses the proliferation of MM KM3 cells, potentially through mechanisms involving the regulation of mitochondrial dynamics and induction of autophagy.
9.Relationship between cardiorespiratory fitness and executive function in adolescents
Chinese Journal of School Health 2024;45(3):317-321
Objective:
To explore the relationship between cardiorespiratory fitness and executive function in Chinese adolescents, so as to provide a reference for promoting the overall development of Chinese adolescents physical and mental health.
Methods:
From September to December 2022, a total of 5 018 adolescents aged 13 to 18 years from Shanghai, Suzhou, Taiyuan, Wuyuan, Xingyi, and Urumqi were selected by stratified cluster sampling method to assess cardiorespiratory fitness and executive function. Pearson s correlation and linear hierarchical regression were performed to analyze the relationship between cardiorespiratory fitness and executive functions.
Results:
Among the sample of adolescents, maximal oxygen consumption (VO 2max ) was negatively correlated with the refreshing(1-back, 2-back) and conversion executive function responses ( r=-0.07, -0.12, -0.12, P <0.01). Linear regression analysis showed that VO 2max was negatively correlated with the reaction times of the refreshing(1-back, 2-back) and conversion functions ( B=-2.99, -6.44, -1.69, P <0.01).
Conclusions
Higher cardiorespiratory fitness among adolescents is associated with better performance in executive function. Teenagers should strengthen high intensity cardiopulmonary endurance exercise to promote the improvement of executive function.
10.The impact of bladder and bowel preparation on the precise implementation of radiotherapy for prostate cancer
Yaru MA ; Maosheng LIN ; Jiongjia CHEN ; Zhenhua DING
Chinese Journal of Radiological Health 2024;33(2):123-128
Objective To observe the daily bladder and bowel preparation of patients with prostate cancer by cone-beam computed tomography (CBCT), and analyze its impact on the precise implementation of radiotherapy for prostate cancer and side effects. Methods We retrospectively analyzed 38 patients with prostate cancer who underwent volumetric modulated arc therapy. The number of radiation fractions for each patient ranged from 25 to 35. A CBCT scan was performed before each daily radiation therapy, and the number of scans for each patient ranged from 25 to 40. Setup errors were adjusted to ensure that the tumor was targeted and the rectum wall was not in the high-dose target area of the prostate. There were 93 instances where treatment could not be successfully implemented and re-preparation and re-scanning were required. We calculated the success rate of treatment and setup errors, compared radiotherapist-adjusted error values under different bladder and bowel preparation conditions, and recorded radiotherapy-related side effects. Results The success rate of treatment in the 38 patients was (92.14 ± 5.25)%. Among the 93 instances of seriously inadequate preparation, 48.4% were due to insufficient bladder filling, and 30.1% were due to intestinal bloating. Radiotherapy side effects were negatively correlated with the success rate of treatment (r = −0.393, P = 0.015). When bladder filling was sufficient, there were no significant differences in radiotherapist-adjusted error values in the left-right (LR), superior-inferior (SI), and anterior-posterior (AP) directions between adequate and inadequate bowel preparation (P > 0.05). When the bladder was moderately or insufficiently filled, there were significant differences in radiotherapist-adjusted error values in the LR, SI, and AP directions between adequate and inadequate bowel preparation (P < 0.05). Conclusion Insufficient bladder filling and intestinal bloating are the main factors influencing the successful implementation of radiotherapy for prostate cancer. When the bladder is sufficiently filled, bowel preparation does not affect prostate position change.


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