1.Research on the screening efficiency of Thalassemia based on an automated evaluation software.
Jun HU ; Huan LIANG ; Limei DUAN ; Jianqiang GAO
Chinese Journal of Medical Genetics 2026;43(4):281-287
OBJECTIVE:
To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening.
METHODS:
A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005).
RESULTS:
The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%.
CONCLUSION
The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans
;
Thalassemia/diagnosis*
;
Software
;
Female
;
Genetic Testing/methods*
;
Male
;
Mutation
;
Adult
;
Genotype
;
ROC Curve
;
Risk Assessment
2.Pattern of lymph node metastasis and p53 abnormal (p53abn) expression in preoperative early-stage endometrial cancer: A 5-year institutional experience.
Angeli Anne C. ANG ; Carolyn R. ZALAMEDA-CASTRO ; Cecile C. DUNGOG ; Michele H. DIWA ; Karen Cybelle J. SOTALBO
Acta Medica Philippina 2026;60(8):98-106
BACKGROUND
data-mce-style="text-align: justify;">Early-stage endometrial cancer often presents with favorable survival rates, but high-risk factors, including TP53 mutations and high-grade serous pathology, can lead to recurrence and poor prognosis. The standard primary treatment for endometrial cancer is surgical staging, and lymph node metastases significantly impact adjuvant therapy decisions. The subgroup of p53-abnormal (p53abn) indicates the worst prognosis and potential benefits from adjuvant chemotherapy. Molecular classification, while recommended, faces practical challenges due to resource constraints.
OBJECTIVESThe study aimed to assess the incidence of p53 abnormal expression in clinical stage 1 endometrial cancer cases that underwent surgery at a government tertiary hospital, and assess its relationship with clinicopathologic factors and pelvic and paraaortic lymph node metastasis (LNM).
METHODSdata-mce-style="text-align: justify;">A cross-sectional retrospective analysis was conducted on clinical early-stage endometrial cancer cases that underwent surgical primary treatment between January 2018 and December 2022. Patient records were reviewed to gather demographics, surgical information, and pathological evaluations. Preoperative clinical staging was determined through imaging, and surgical staging involved comprehensive lymphadenectomy. Immunohistochemistry studies for p53 were carried out on formalin-fixed paraffin-embedded tissue samples.
RESULTSdata-mce-style="text-align: justify;">A total of 233 endometrial cancer cases were included. The mean age at diagnosis was 53.7 years. Common comorbidities included hypertension (47.2%) and dyslipidemia (20.6%). Most cases were endometrioid histology (82.8%) and low-grade tumors (85.8%). Tumor grade (p=0.010), myometrial invasion (pCONCLUSION
data-mce-style="text-align: justify;">Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.
Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment
3.Pattern of lymph node metastasis and p53 abnormal (p53abn) expression in preoperative early-stage endometrial cancer: A 5-year institutional experience.
Angeli Anne C. ANG ; Carolyn R. ZALAMEDA-CASTRO ; Cecile C. DUNGOG ; Michele H. DIWA ; Karen Cybelle J. SOTALBO
Acta Medica Philippina 2026;60(8):98-106
BACKGROUND
data-mce-style="text-align: justify;">Early-stage endometrial cancer often presents with favorable survival rates, but high-risk factors, including TP53 mutations and high-grade serous pathology, can lead to recurrence and poor prognosis. The standard primary treatment for endometrial cancer is surgical staging, and lymph node metastases significantly impact adjuvant therapy decisions. The subgroup of p53-abnormal (p53abn) indicates the worst prognosis and potential benefits from adjuvant chemotherapy. Molecular classification, while recommended, faces practical challenges due to resource constraints.
OBJECTIVESThe study aimed to assess the incidence of p53 abnormal expression in clinical stage 1 endometrial cancer cases that underwent surgery at a government tertiary hospital, and assess its relationship with clinicopathologic factors and pelvic and paraaortic lymph node metastasis (LNM).
METHODSdata-mce-style="text-align: justify;">A cross-sectional retrospective analysis was conducted on clinical early-stage endometrial cancer cases that underwent surgical primary treatment between January 2018 and December 2022. Patient records were reviewed to gather demographics, surgical information, and pathological evaluations. Preoperative clinical staging was determined through imaging, and surgical staging involved comprehensive lymphadenectomy. Immunohistochemistry studies for p53 were carried out on formalin-fixed paraffin-embedded tissue samples.
RESULTSdata-mce-style="text-align: justify;">A total of 233 endometrial cancer cases were included. The mean age at diagnosis was 53.7 years. Common comorbidities included hypertension (47.2%) and dyslipidemia (20.6%). Most cases were endometrioid histology (82.8%) and low-grade tumors (85.8%). Tumor grade (p=0.010), myometrial invasion (pCONCLUSION
data-mce-style="text-align: justify;">Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.
Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment
4.Polarized light microscopic mineral phase authentication and health risk assessment of raw and calcined fossil mineral Chinese medicinal material Draconis Os.
Yan-Qiong PAN ; Zheng LIU ; Li-Wen ZHENG ; Ying ZHANG ; Liu ZHOU ; Xi-Long QIAN ; Fang FANG ; Xiao WU ; Sheng-Jin LIU
China Journal of Chinese Materia Medica 2025;50(15):4238-4247
This study aims to investigate the polarized microscopic mineral phase characteristics, inorganic element content, and potential health risks associated with the intake of raw and calcined fossil mineral Chinese medicinal material Draconis Os. Microscopy was employed to observe the mineralogical characteristics of Draconis Os and compare the microscopic features and phase composition of raw and calcined Draconis Os under monochromatic and orthogonal polarized light. Inductively coupled plasma mass spectrometry(ICP-MS) was employed to determine the content of 30 inorganic elements. Health risk assessment was conducted by calculating the single pollution index(P_i), average daily intake of elements for adults(ADI), target hazard quotient(THQ), non-carcinogenic assessment method-hazard quotient(HQ), and the carcinogenic risk of elements(CR). The results indicated that under monochromatic polarized light, the Draconis Os powder sections exhibited light gray-brown to gray-brown irregular fragments, some with undulating textures that were slightly curved. Under crossed polarized light, they appeared dark gray, grayish-white, and yellowish-white. Clear apatite was visible in the ground sections of Draconis Os under crossed polarized light. P_i results indicated that Draconis Os samples were free from contamination and were of good quality. According to the maximum allowable limits of heavy metals stipulated in ISO Traditional Chinese Medicine: Determination of heavy metals in herbal medicines used in Traditional Chinese Medicine, ADI, THQ, HQ, and CR were taken as assessment indicators. Only the THQ value for As(arsenic) in raw Draconis Os was greater than 1, while the THQ values for other heavy metal elements in the Draconis Os samples were all less than 1. The study demonstrates that the primary mineral phase of raw and calcined Draconis Os is apatite, with some samples co-existing with calcite, which can serve as one of the means for quality control of Draconis Os. The elemental analysis results from ICP-MS provide scientific evidence for the safety assessment of Draconis Os, indicating that Draconis Os is safe in clinical application.
Drugs, Chinese Herbal/analysis*
;
Risk Assessment
;
Minerals/chemistry*
;
Fossils
;
Humans
;
Drug Contamination
;
Mass Spectrometry
5.Prediction method of paroxysmal atrial fibrillation based on multimodal feature fusion.
Yongjian LI ; Lei LIU ; Meng CHEN ; Yixue LI ; Yuchen WANG ; Shoushui WEI
Journal of Biomedical Engineering 2025;42(1):42-48
The risk prediction of paroxysmal atrial fibrillation (PAF) is a challenge in the field of biomedical engineering. This study integrated the advantages of machine learning feature engineering and end-to-end modeling of deep learning to propose a PAF risk prediction method based on multimodal feature fusion. Additionally, the study utilized four different feature selection methods and Pearson correlation analysis to determine the optimal multimodal feature set, and employed random forest for PAF risk assessment. The proposed method achieved accuracy of (92.3 ± 2.1)% and F1 score of (91.6 ± 2.9)% in a public dataset. In a clinical dataset, it achieved accuracy of (91.4 ± 2.0)% and F1 score of (90.8 ± 2.4)%. The method demonstrates generalization across multi-center datasets and holds promising clinical application prospects.
Humans
;
Atrial Fibrillation/diagnosis*
;
Machine Learning
;
Deep Learning
;
Risk Assessment/methods*
6.Risk Identification and Regulation for China's Anti-Commercial Bribery in Medical Device Procurement and Sales Industry.
Jie FU ; Jing-Yi XU ; Yue WANG
Chinese Medical Sciences Journal 2025;40(2):144-149
In China, the regulatory framework for medical device procurement and sales, particularly concerning anti-commercial bribery, relies heavily on punitive mechanisms applied after violations occur. Consequently, there is an urgent need to establish a scientific risk regulation framework as a complementary approach. Effective risk-oriented regulatory models require precise identification of risk areas in commercial bribery. Focusing on several major procurement scenarios such as centralized bulk-buying, tendering and bidding processes, in-hospital procurement, and online purchasing, this article analyzes the structural factors contributing to these risks, represented by the absence of certification mechanisms, lack of transparency in information disclosure, and inadequate checks and balances. Based on official risk assessment results, this study applies the theory of power and responsibility to propose a preventive regulatory framework that combines industry self-discipline and administrative oversight. By combining these approaches, the framework aims to develop regulatory measures that can effectively reduce commercial bribery risks and prevent illegal and non-compliant conduct.
China
;
Equipment and Supplies/economics*
;
Commerce/legislation & jurisprudence*
;
Humans
;
Risk Assessment
7.Identification of high-risk preoperative blood indicators and baseline characteristics for multiple postoperative complications in rheumatoid arthritis patients undergoing total knee arthroplasty: a multi-machine learning feature contribution analysis.
Kejia ZHU ; Zhiyang HUANG ; Biao WANG ; Hang LI ; Yuangang WU ; Bin SHEN ; Yong NIE
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(12):1532-1542
OBJECTIVE:
To explore, identify, and develop novel blood-based indicators using machine learning algorithms for accurate preoperative assessment and effective prediction of postoperative complication risks in patients with rheumatoid arthritis (RA) undergoing total knee arthroplasty (TKA).
METHODS:
A retrospective cohort study was conducted including RA patients who underwent unilateral TKA between January 2019 and December 2024. Inpatient and 30-day postoperative outpatient follow-up data were collected. Six machine learning algorithms, including decision tree, random forest, logistic regression, support vector machine, extreme gradient boosting, and light gradient boosting machine, were used to construct predictive models. Model performance was evaluated using the area under the receiver operating characteristic curve (AUC), F1-score, accuracy, precision, and recall. SHapley Additive exPlanations (SHAP) values were employed to interpret and rank the importance of individual variables.
RESULTS:
According to the inclusion criteria, a total of 1 548 patients were enrolled. Ultimately, 18 preoperative indicators were identified as effective predictive features, and 8 postoperative complications were defined as prediction labels for inclusion in the study. Within 30 days after surgery, 453 patients (29.2%) developed one or more complications. Considering overall accuracy, precision, recall, and F1-score, the random forest model [AUC=0.930, 95% CI (0.910, 0.950)] and the extreme gradient boosting model [AUC=0.909, 95% CI (0.880, 0.938)] demonstrated the best predictive performance. SHAP analysis revealed that anti-cyclic citrullinated peptide antibody, C-reactive protein, rheumatoid factor, interleukin-6, body mass index, age, and smoking status made significant contributions to the overall prediction of postoperative complications.
CONCLUSION
Machine learning-based models enable accurate prediction of postoperative complication risks among RA patients undergoing TKA. Inflammatory and immune-related blood biomarkers, such as anti-cyclic citrullinated peptide antibody, C-reactive protein, and rheumatoid factor, interleukin-6, play key predictive roles, highlighting their potential value in perioperative risk stratification and individualized management.
Humans
;
Arthroplasty, Replacement, Knee/adverse effects*
;
Arthritis, Rheumatoid/blood*
;
Machine Learning
;
Postoperative Complications/blood*
;
Female
;
Male
;
Retrospective Studies
;
Middle Aged
;
Aged
;
Risk Factors
;
Preoperative Period
;
C-Reactive Protein/analysis*
;
Risk Assessment
8.Establishment of a nomogram for early risk prediction of severe trauma in primary medical institutions: A multi-center study.
Wang BO ; Ming-Rui ZHANG ; Gui-Yan MA ; Zhan-Fu YANG ; Rui-Ning LU ; Xu-Sheng ZHANG ; Shao-Guang LIU
Chinese Journal of Traumatology 2025;28(6):418-426
PURPOSE:
To analyze risk factors for severe trauma and establish a nomogram for early risk prediction, to improve the early identification of severe trauma.
METHODS:
This study was conducted on the patients treated in 81 trauma treatment institutions in Gansu province from 2020 to 2022. Patients were grouped by year, with 5364 patients from 2020 to 2021 as the training set and 1094 newly admitted patients in 2020 as the external validation set. Based on the injury severity score (ISS), patients in the training set were classified into 2 subgroups of the severe trauma group (n = 478, ISS scores ≥25) and the non-severe trauma group (n = 4886, ISS scores <25). Univariate and binary logistic regression analyses were employed to identify independent risk factors for severe trauma. Subsequently, a predictive model was developed using the R software environment. Furthermore, the model was subjected to internal and external validation via the Hosmer-Lemeshow test and receiver operating characteristic curve analysis.
RESULTS:
In total, 6458 trauma patients were included in this study. Initially, this study identified several independent risk factors for severe trauma, including multiple traumatic injuries (polytrauma), external hemorrhage, elevated shock index, elevated respiratory rate, decreased peripheral oxygen saturation, and decreased Glasgow coma scale score (all p < 0.05). For internal validation, the area under the receiver operating characteristic curve was 0.914, with the sensitivity and specificity of 88.4% and 87.6%, respectively; while for external validation, the area under the receiver operating characteristic curve was 0.936, with the sensitivity and specificity of 84.6% and 93.7%, respectively. In addition, a good model fitting was observed through the Hosmer-Lemeshow test and calibration curve analysis (p > 0.05).
CONCLUSION
This study establishes a nomogram for early risk prediction of severe trauma, which is suitable for primary healthcare institutions in underdeveloped western China. It facilitates early triage and quantitative assessment of trauma severity by clinicians prior to clinical interventions.
Humans
;
Nomograms
;
Male
;
Female
;
Wounds and Injuries/diagnosis*
;
Risk Factors
;
Middle Aged
;
Adult
;
Injury Severity Score
;
Risk Assessment
;
ROC Curve
;
Aged
;
Logistic Models
;
China
;
Glasgow Coma Scale
9.Construction of a mixed valvular heart disease-related age-adjusted comorbidity index and its predictive value for patient prognosis.
Murong XIE ; Haiyan XU ; Bin ZHANG ; Yunqing YE ; Zhe LI ; Qingrong LIU ; Zhenyan ZHAO ; Junxing LYU ; Yongjian WU
Journal of Zhejiang University. Medical sciences 2025;54(2):230-240
OBJECTIVES:
To create a mixed valvular heart disease (MVHD)-related age-adjusted comorbidity index (MVACI) model for predicting mortality risk of patients with MVHD.
METHODS:
A total of 4080 patients with moderate or severe MVHD in the China-VHD study were included. The primary endpoint was 2-year all-cause mortality. A MVACI model prediction model was constructed based on the mortality risk factors identified by univariate and multivariate Cox regression analysis. Restricted cubic splines were used to assess the relationship between MVACI scores and 2-year all-cause mortality. The optimal threshold, determined by the maximum Youden index from receiver operator characteristic (ROC) curve analysis, was used to stratify patients. Kaplan-Meier method was used to calculate 2-year all-cause mortality and compared using the Log-rank test. Univariate and multivariate Cox proportional hazards models were employed to calculate hazard ratios (HR) and 95% confidence intervals (CI), evaluating the association between MVACI scores and mortality. Paired ROC curves were used to compare the discriminative ability of MVACI scores with the European System for Cardiac Operative Risk Evaluation Ⅱ(EuroSCORE Ⅱ) or the age-adjusted Charlson comorbidity index (ACCI) in predicting 2-year clinical outcomes, while calibration curves assessed the calibration of these models. Internal validation was performed using the Bootstrap method. Subgroup analyses were conducted based on etiology, treatment strategies, and disease severity.
RESULTS:
Multivariate analysis identified the following variables independently associated with 2-year all-cause mortality in patients: pulmonary hypertension, myocardiopathy, heart failure, low body weight (body mass index <18.5 kg/m2), anaemia, hypoalbuminemia, renal insufficiency, cancer, New York Heart Association (NYHA) class and age. The score was independently associated with the risk of all-cause mortality, and exhibited good discrimination (AUC=0.777, 95%CI: 0.755-0.799) and calibration (Brier score 0.062), with significantly better predictive performance than EuroSCORE Ⅱ or ACCI (both adjusted P<0.01). The internal validation showed that the MVACI model's predicted probability of 2-year all-cause mortality was generally consistent with the actual probability. The AUCs for predicting all-cause mortality risk were all above 0.750, and those for predicting adverse events were all above 0.630. The prognostic value of the score remained consistent in patients regardless of their etiology, therapeutic option, and disease severity.
CONCLUSIONS
The MVACI was constructed in this study based on age and comorbidities, and can be used for mortality risk prediction and risk stratification of MVHD patients. It is a simple algorithmic index and easy to use.
Humans
;
Prognosis
;
Comorbidity
;
Heart Valve Diseases/epidemiology*
;
Female
;
Male
;
Middle Aged
;
Aged
;
Proportional Hazards Models
;
Risk Factors
;
China/epidemiology*
;
Age Factors
;
Risk Assessment
;
Adult
;
ROC Curve
10.Restorative strategies for complex crown-root fractures in the esthetic zone: a risk assessment based on the restoration-tooth-periodontium interface.
Ao SUN ; Baiping FU ; Huiyong ZHU
Journal of Zhejiang University. Medical sciences 2025;54(5):573-582
Complex crown-root fractures in the esthetic zone refer to a type of dental trauma occurring in the anterior region, characterized by concurrent fractures involving both the crown and the root, with associated pulp exposure and periodontal tissue injury. These injuries consistently exhibit critical anatomical features, including a fixed palatal fracture location below the alveolar crest, compromised residual tooth structure, and frequent encroachment of the biological width. To predict treatment outcomes, a risk assessment framework based on the restoration-tooth-periodontium interface was developed. Resistance risk was evaluated by assessing the type of residual dentin ferrule and the length of the root within the alveolar bone, while periodontal risk was assessed according to gingival phenotype and alveolar bone morphology. Based on these risk dimensions and the principles of aesthetics, stability, and minimally invasive treatment, a diagnostic classification system was established to categorize fractures into three types: favorable, intervention and high-risk. Type-specific management strategies were proposed: for favorable cases, crown lengthening combined with deep margin elevation to reduce periodontal risk is recommended; for intervention cases, orthodontic extrusion or surgical extrusion is applied to simultaneously address both ferrule deficiency and biological width violation; for high-risk cases, extraction followed by implant restoration is advised due to limited root preservation value. The presented classification enables clinicians to adopt a scientific and structured approach to treatment planning for these complex crown-root fractures in the aesthetic zone.
Humans
;
Tooth Fractures/therapy*
;
Tooth Root/injuries*
;
Risk Assessment
;
Tooth Crown/injuries*
;
Periodontium
;
Esthetics, Dental
;
Dental Restoration, Permanent/methods*


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