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.Research progress on 4D printing technology for bone tissue engineering
WANG Peiyu ; SHI Yaru ; SUN Yifan ; XU Xiaowei
Journal of Prevention and Treatment for Stomatological Diseases 2026;34(1):75-85
The repair of bone defects is heavily influenced by the dynamic osteogenic microenvironment. Static scaffolds constructed by traditional 3D printing technology cannot simulate the dynamic nature of the microenvironment during bone defect repair due to the fixed structure, uncontrollable release of active factors, and difficult regeneration of blood vessels, among other factors. Breaking through the limitations of these static scaffolds and realizing the intelligent and dynamic regulation of the osteogenic microenvironment is a key scientific issue in the field of bone tissue engineering. 4D printing technology combines the dynamic responsiveness of bone restoration materials with the concept of intelligent design to regulate the micro and macro structure of scaffolds. This technology provides a new method for bone tissue engineering by responding to endogenous and exogenous stimuli and creating a better osteogenic microenvironment through functionalized design, including drug delivery and antibacterial function. However, this technology currently suffers from challenges related to dynamic response material design, insufficient precision of printing technology, and mismatches between multi-stimulus response systems, metabolic rhythms of bone tissue, and functionalized composite scaffolds. Future research should focus on the development of smart response materials with excellent dynamic responses and bioactivity, the creation of new printing technologies, and the design of personalized and precise bone repair solutions. The aim of this paper is to review the current research status of 4D printing for bone tissue engineering in terms of material types, response mechanisms, and applications to provide a theoretical basis for the development and clinical application of functional bone repair materials in the future.
3.Effect of Cordyceps sinensis on podocyte damage induced by high glucose by regulating the AMPK/mTOR pathway
Bingxin LI ; Junying XU ; Yaru ZHANG ; Xiaobing ZHOU
Tianjin Medical Journal 2025;53(3):225-229
Objective To investigate effects of Cordyceps sinensis(CS)on high glucose(HG)induced podocyte injury by regulating the adenylate activated protein kinase(AMPK)/mammalian target of rapamycin(mTOR)signaling pathway.Methods Mouse podocytes were cultured in vitro and divided into the normal glucose(NG)group,the HG group,the HG+CS group,the HG+CS+autophagy inhibitor(HG+CS+3MA)group and the HG+CS+AMPK inhibitor(HG+CS+Compound C)group.Podocyte viability was detected by CCK-8 method.Western blot assay was used to detect the expression levels of podocyte marker proteins podocin and nephrin,autophagy-related proteins Beclin-1 and P62,and pathway related proteins p-AMPK and p-mTOR.Results Compared with the NG group,the cell viability of podocytes decreased,the expression levels of podocin,nephrin,Beclin-1 and p-AMPK protein were decreased,and the expression levels of P62 and p-mTOR protein were increased in the HG group(P<0.05).Compared with the HG group,the cell viability of podocytes was increased,the expression levels of podocin,nephrin,Beclin-1 and p-AMPK protein were significantly increased(P<0.05),and the expression levels of P62 and p-mTOR protein were decreased in the HG+CS group(P<0.05).Compared with the HG+CS group,the cell viability decreased in the HG+CS+3MA group and the HG+CS+Compound C group(P<0.05).Compared with the HG+CS group,the HG+CS+3MA group and the HG+CS+Compound C group showed decreased expression levels of podocin,nephrin and Beclin-1 protein,and increased expression of P62 protein(P<0.05).Compared with the HG+CS group,the expression of p-AMPK protein decreased and the expression of p-mTOR protein increased in the HG+CS+Compound C group(P<0.05).Conclusion Cordyceps sinensis may play a protective role in diabetic nephropathy by up-regulating AMPK/mTOR signaling pathway to induce podocyte autophagy,alleviate high glucose induced podocyte injury and apoptosis.
4.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.
5.Structure, content and data standardization of rehabilitation medical records
Yaru YANG ; Zhuoying QIU ; Di CHEN ; Zhongyan WANG ; Meng ZHANG ; Shiyong WU ; Yaoguang ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Jian YANG ; Na AN ; Yuanjun DONG ; Xiaojia XIN ; Xiangxia REN ; Ye LIU ; Yifan TIAN
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):21-32
ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.
6.Standardization of electronic medical records data in rehabilitation
Yifan TIAN ; Fang XUN ; Haiyan YE ; Ye LIU ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):33-44
ObjectiveTo explore the data standard system of electronic medical records in the field of rehabilitation, focusing on the terminology and coding standards, data structure, and key content categories of rehabilitation electronic medical records. MethodsBased on the Administrative Norms for the Application of Electronic Medical Records issued by the National Health Commission of China, the electronic medical record standard architecture issued by the International Organization for Standardization and Health Level Seven (HL7), the framework of the World Health Organization Family of International Classifications (WHO-FICs), Basic Architecture and Data Standards of Electronic Medical Records, Basic Data Set of Electronic Medical Records, and Specifications for Sharing Documents of Electronic Medical Records, the study constructed and organized the data structure, content, and data standards of rehabilitation electronic medical records. ResultsThe data structure of rehabilitation electronic medical records should strictly follow the structure of electronic medical records, including four levels (clinical document, document section, data set and data element) and four major content areas (basic information, diagnostic information, intervention information and cost information). Rehabilitation electronic medical records further integrated information related to rehabilitation needs and characteristics, emphasizing rehabilitation treatment, into clinical information. By fully applying the WHO-FICs reference classifications, rehabilitation electronic medical records could establish a standardized framework, diagnostic criteria, functional description tools, coding tools and terminology index tools for the coding, indexing, functional description, and analysis and interpretation of diseases and health problems. The study elaborated on the data structure and content categories of rehabilitation electronic medical records in four major categories, refined the granularity of reporting rehabilitation content in electronic medical records, and provided detailed data reporting guidance for rehabilitation electronic medical records. ConclusionThe standardization of rehabilitation electronic medical records is significant for improving the quality of rehabilitation medical services and promoting the rehabilitation process of patients. The development of rehabilitation electronic medical records must be based on the national and international standards. Under the general electronic medical records data structure and standards, a rehabilitation electronic medical records data system should be constructed which incorporates core data such as disease diagnosis, functional description and assessment, and rehabilitation interventions. The standardized rehabilitation electronic medical records scheme constructed in this study can support the improvement of standardization of rehabilitation electronic medical records data information.
7.Standardization of outpatient medical record in rehabilitation setting
Ye LIU ; Qing QIN ; Haiyan YE ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):45-54
ObjectiveTo analyze the data structure and standards of rehabilitation outpatient medical records, to provide data support for improving the quality of rehabilitation outpatient care and developing medical insurance payment policies. MethodsBased on the normative documents issued by the National Health Commission, Basic Standards for Medical Record Writing and Standards for Electronic Medical Record Sharing Documents, in accordance with the Quality Management Regulations for Outpatient (Emergency) Diagnosis and Treatment Information Pages (Trial), reference to the framework of the World Health Organization Family of International Classifications (WHO-FICs), the data framework and content of rehabilitation outpatient medical records were determined, and the data standards were discussed. ResultsThis study constructed a data framework for rehabilitation outpatient medical records, including four main components: patient basic information, visit process information, diagnosis and treatment information, and cost information. Three major reference classifications of WHO-FICs, International Classification of Diseases, International Classification of Functioning, Disability and Health, and International Classification of Health Interventions,were used to establish diagnostic standards and standardized terminology, as well as coding disease diagnosis, functional description, functional assessment, and rehabilitation interventions, to improve the quality of data reporting, and level of quality control in rehabilitation. ConclusionThe structuring and standardization of rehabilitation outpatient medical records are the foundation for sharing of rehabilitation data. The using of the three major classifications of WHO-FICs is valuable for the terminology and coding of disease diagnosis, functional description and assessment, and intervention in rehabilitation outpatient medical records, which is significant for sharing and interconnectivity of rehabilitation outpatient data, as well as for optimizing the quality and safety of rehabilitation medical services.
8.Structure, content and data standardization of inpatient rehabilitation medical record summary sheet
Haiyan YE ; Qing QIN ; Ye LIU ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):55-66
ObjectiveTo explore the standardization of inpatient rehabilitation medical record summary sheet, encompassing its structure, content and data standards, to enhance the standardization level of inpatient rehabilitation medical record summary sheet, improve data reporting quality, and provide accurate data support for medical insurance payment, hospital performance evaluation, and rehabilitation discipline evaluation. MethodsBased on the relevant specifications of the National Health Commission's Basic Norms for Medical Record Writing, Specifications for Sharing Documents of Electronic Medical Records, and Quality Management and Control Indicators for Inpatient Medical Record Summary Sheet (2016 Edition), this study analyzed the structure and content of the inpatient rehabilitation medical record summary sheet. The study systematically applied the three major reference classifications of the World Health Organization Family of International Classifications, International Classification of Diseases (ICD-10/ICD-11, ICD-9-CM-3), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), for disease diagnosis, functional description and assessment, and rehabilitation intervention, forming a standardized terminology system and coding methods. ResultsThe inpatient rehabilitation medical record summary sheet covered four major sections: inpatient information, hospitalization information, diagnosis and treatment information, and cost information. ICD-10/ICD-11 were the standards and coding tools for admission and discharge diagnoses in the inpatient rehabilitation medical record summary sheet. The three functional assessment tools recommended by ICD-11, the 36-item version of World Health Organization Disability Assessment Schedule 2.0, Brief Model Disability Survey and Generic Functioning domains, as well as ICF, were used for rehabilitation functioning assessment and the coding of outcomes. ICHI Beta-3 and ICD-9-CM-3 were used for coding surgical procedures and operations in the medical record summary sheet, and also for coding rehabilitation intervention items. ConclusionThe inpatient rehabilitation medical record summary sheet is a summary of the relevant content of the rehabilitation medical record and a tool for reporting inpatient rehabilitation data. It needs to be refined and optimized according to the characteristics of rehabilitation, with necessary data supplemented. The application of ICD-11/ICD-10, ICF and ICHI Beta-3/ICD-9-CM-3 classification standards would comprehensively promote the accuracy of inpatient diagnosis of diseases and functions. Based on ICD-11 and ICF, relevant functional assessment result data would be added, and ICHI Beta-3/ICD-9-CM-3 should be used to code rehabilitation interventions. Improving the quality of rehabilitation medical records and inpatient rehabilitation medical record summary sheet is an important part of rehabilitation quality control, and also lays an evidence-based data foundation for the analysis and application of inpatient rehabilitation medical record summary sheet.
9.Effects and mechanism of plumbagin on the inflammatory response and oxidative stress in rats with AECOPD
Yaru WANG ; Peipei XU ; Shirong LI
China Pharmacy 2025;36(18):2250-2255
OBJECTIVE To explore the effects and potential mechanism of plumbagin on the inflammatory response and oxidative stress in rats with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) based on Notch1/GATA3 signaling pathway. METHODS Ten rats were randomly selected as the control group; another 65 rats were used to establish the AECOPD model by inhaling cigarette smoke, intratracheal administration of endotoxin, and nasal inoculation of bacteria. The 50 successfully modeled rats were randomly divided into the AECOPD group, plumbagin low-dose group (10 mg/kg), plumbagin high-dose group (50 mg/kg), positive control group (dexamethasone 0.09 mg/kg), and high-dose plumbagin+Jagged1 (Notch1 activator) group (50 mg/kg+25 mg/kg), with 10 rats in each group. Each group was administrated intragastrically or intraperitoneally with the corresponding drug solution or normal saline, once a day for 28 consecutive days. After the last administration, the lung function indicators (peak expiratory flow, the ratio of forced expiratory volume in 0.3 seconds to forced vital capacity), the number of inflammatory cells (white blood cells, lymphocytes, neutrophils, macrophages) in bronchoalveolar lavage fluid, the levels of inflammatory factors [interleukin-6 (IL-6), IL-10, tumor necrosis factor-α (TNF-α)] in lung tissue, and the contents of oxidative stress indicators [superoxide dismutase (SOD), malondialdehyde (MDA)] in lung tissue were all determined in each group; the pathological changes of lung tissue and the pathological scores, as well as protein expressions of mucin 5ac (Muc5ac), Notch1 and GATA3 in lung tissue were also detected. RESULTS Compared with the control group, the lung tissue of the AECOPD group rats showed severe damage to the alveolar wall structure, with a large number of inflammatory cells infiltration and accompanied by pathological changes such as thickening of the airway wall; their lung function indicators, IL-10 level, and SOD content were significantly decreased; while the number of various inflammatory cells, IL-6 and TNF-α levels, MDA content, pathological score, as well as protein expressions of Muc5ac, Notch1 and GATA3 were significantly increased or upregulated (P<0.05). Compared with the AECOPD group, the pathological changes in the lung tissue of the rats in each plumbagin dose group were significantly alleviated, and the above quantitative indicators were significantly improved, and the improvement was more obvious in the plumbagin high- dose group (P<0.05). Jagged1 significantly reversed the protective effect of high-dose plumbagin on lung injury and related indicators in AECOPD rats (P<0.05). CONCLUSIONS Plumbagin can inhibit the inflammatory response and oxidative stress in the lungs of AECOPD rats, alleviate lung damage, and improve lung function. The above effects may be related to the inhibition of the Notch1/GATA3 signaling pathway.
10.Association between sleep quality and mental health among middle school students
WU Huipan, LIU Yuan, YIN Xiaojian, WANG Jinxian, WANG Yi, GUO Yaru, XU Dingkun
Chinese Journal of School Health 2025;46(6):770-773
Objective:
To explore the relationship between sleep quality and mental health among middle school students, so as to provide scientific basis for improving mental health among adolescents.
Methods:
From September to December 2023, a stratified cluster random sampling method was employed to select 5 713 middle school students aged 13-18 from Shanghai, Suzhou, Taiyuan, Wuyuan, Xingyi, and Urumqi. Sleep quality and mental health were assessed using the Pittsburgh Sleep Quality Index (PSQI) and the Brief Adolescent Mental Health Assessment Questionnaire. Spearman correlation analysis and linear regression analysis were used to explore the relationship between sleep quality and various dimensions of mental health among middle school students.
Results:
There was a statistically significant difference in the total PSQI score among middle school students of different age groups ( H=226.49, P <0.01), and there was no statistically significant difference in the psychological health scores of middle school students in different age groups ( H=5.37, P >0.05). In terms of gender, the total PSQI score for girls [5.00 (3.00, 6.00)] was higher than that for boys [4.00 (2.00, 6.00)]; additionally, boys had higher mental health scores [85.00 (75.00, 90.00)] than females [83.00 (70.00, 89.00)], with statistically significant differences ( Z=-10.90, -8.16, P <0.01). Spearman correlation analysis revealed a negative correlation between total PSQI scores and mental health scores ( r=-0.51, P <0.05) among middle school students. After controlling for variables such as maximum oxygen uptake, physical activity and nutritional status, linear regression analysis further confirmed that higher PSQI scores were associated with lower mental health scores ( B=-3.76, 95%CI = -4.15 to -3.38, P <0.01).
Conclusion
There is a negative correlation between PSQI scores and mental health scores among middle school students, indicating that improving sleep quality may contribute to better mental health among middle school students.


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