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
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).
METHODSA 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.
RESULTSA 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
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
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).
METHODSA 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.
RESULTSA 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
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.Evaluation of acute myocardial infarction care in patients admitted in a non-PCI capable tertiary hospital using validated quality indicator: A retrospective cohort study
Nathaniel A. Camangon ; Benedict Joseph M. Cruz ; Arthur Bagadiong ; Christian June Martinez
Philippine Journal of Internal Medicine 2025;63(2):130-137
INTRODUCTION
This retrospective cohort study investigated the quality of care provided to patients with acute myocardial infarction (AMI) at a non-PCI capable tertiary hospital. We employed validated quality indicators (QIs) endorsed by the European Society of Cardiology (ESC) to assess adherence to evidence-based guidelines for AMI care.
OBJECTIVESThis retrospective cohort study aims to comprehensively evaluate the quality of acute myocardial infarction (AMI) care provided at a non-PCI capable tertiary hospital by utilizing validated quality indicators (QIs). The study assesses adherence to evidence-based guidelines, identifies areas of improvement, and explores the association between care processes and patient outcomes.
METHODSThis retrospective cohort study analyzed patients admitted with acute myocardial infarction (AMI) to a non-percutaneous coronary intervention (PCI) capable tertiary hospital between January 2021 and December 2022. Data on quality indicators were systematically extracted from medical records to assess adherence to clinical guidelines and patient outcomes. Logistic regression was used to identify predictors of mortality, while controlling for potential confounders such as demographic and clinical characteristics. Ethical approval was granted, and patient data was anonymized in compliance with national regulations.
RESULTSThe study identified a patient population consistent with established cardiovascular risk factors. Adherence rates to QIs varied across different domains. Notably, the risk-adjusted 30-day mortality rate was 29.09%, highlighting the need for further investigation into factors influencing patient outcomes.
CONCLUSIONOur study highlights both strengths and gaps in adherence to AMI quality indicators at a non-PCI hospital. While key treatments such as P2Y12 inhibitor use and anticoagulation were well implemented, areas like reperfusion protocols, LVEF measurement, and data collection require improvement. These findings reinforce the importance of evidence-based practices and the need for targeted quality improvement initiatives to address disparities in care. Future efforts should focus on enhancing data collection and exploring the reasons behind regional variations to optimize outcomes for AMI patients in resource-limited settings.
Risk Assessment
5.Risk assessment tools for 0-6 years old children unintentional injuries: A systematic literature analysis.
Yang YUAN ; Li LI ; Guoqing HU
Journal of Central South University(Medical Sciences) 2025;50(1):130-142
OBJECTIVES:
Injuries are the leading cause of death among children and adolescents. Although numerous risk assessment tools for unintentional injuries in children have been developed and published both domestically and internationally, there is currently no global consensus on standardized use. This study aims to systematically characterize existing unintentional injury risk assessment tools for children aged 0-6 years, with the goal of informing scientific tool selection and optimization.
METHODS:
Relevant literature published up to January 2025 was retrieved from CNKI, Wanfang, PubMed, and Web of Science. An information extraction form was developed to gather data on the basic features of each assessment tool, assessment format, scoring methods and criteria, dimensions assessed, reliability and validity, and types of unintentional injuries covered.
RESULTS:
A total of 50 risk assessment tools for unintentional injuries among children aged 0-6 years were included. Among them, 35 tools assessed two or more types of unintentional injuries. Regarding assessment format, 38 tools relied on caregiver self-report, 2 on investigator interviews, 3 on direct observation by investigators, and 7 used multiple methods. The tools covered four major dimensions: knowledge, attitude, behavior, and environment. Eleven tools covered 3 dimensions, while only one tool addressed all 4. Nineteen tools provided clear scoring methods, 14 included criteria for risk determination, and only 11 had both scoring methods and risk criteria. Twenty-eight tools lacked both. Twenty-two tools had been evaluated for reliability and/or validity. Among the 25 English-language tools, only 3 had been translated into Chinese.
CONCLUSIONS
Currently, no existing tool comprehensively assesses all major types of unintentional injuries for children under six years of age. It is recommended that practitioners select appropriate tools based on specific needs. In addition, improvements should be pursued, such as translating and validating English-language tools, developing quantitative scoring methods and criteria for tools tailored to Chinese children for important but underrepresented injury types (e.g., road traffic injuries, drowning).
Humans
;
Infant
;
Child, Preschool
;
Child
;
Risk Assessment/methods*
;
Accidental Injuries/prevention & control*
;
Infant, Newborn
;
Wounds and Injuries/epidemiology*
;
Reproducibility of Results
6.Risk assessment of residual dizziness after repositioning in patients with benign paroxysmal positional vertigo according on multivariate analysis and nomogram.
Yanning YUN ; Xinyu XU ; Hansen ZHAO ; Ru HAN ; Jing LIU ; Suining XU ; Guirong LI ; Juanli XING
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(10):923-929
Objective:To investigate the clinical characteristics of residual dizziness(RD) after repositioning in patients with benign paroxysmal positional vertigo(BPPV), identify its potential risk factors, and develop a predictive risk model. Methods:A total of 137 patients diagnosed with BPPV at the First Affiliated Hospital of Xi'an Jiaotong University between January 2023 and June 2023 were enrolled. Based on the presence or absence of subjective discomfort within 3 months after successful repositioning, patients were divided into the non-RD group(NRD, n=93) and the RD group(n=44). Differences in demographic characteristics, comorbidities, and disease-related features were compared between groups. Multivariate logistic regression analysis was used to identify independent risk factors for RD, and a nomogram was constructed based on these factors. The predictive performance of the model was assessed using the area under the curve(AUC). Results:The RD group showed significantly higher values in body mass index, prevalence of diabetes and motion sickness history, dizziness duration before repositioning, history of repositioning at external hospitals, number of treatments, and recurrence(all P<0.001). Multivariate logistic regression revealed that diabetes(adjusted OR=8.73, P=0.039), motion sickness history(adjusted OR=23.08, P<0.001), dizziness duration ≥30 days before repositioning(adjusted OR=15.16, P<0.001), and recurrence(adjusted OR=15.72, P=0.001) were independent risk factors for RD. The nomogram model based on these variables demonstrated good predictive ability, with an AUC of 0.804(95%CI 0.684-0.924). Conclusion:Diabetes, motion sickness history, dizziness duration ≥30 days, and recurrence are independent risk factors for RD after repositioning in patients with BPPV. The nomogram model based on these variables shows good predictive performance, with recurrence having the highest predictive value. This model can aid in early identification of high-risk patients and guide individualized intervention strategies.
Humans
;
Nomograms
;
Benign Paroxysmal Positional Vertigo/therapy*
;
Dizziness/etiology*
;
Risk Factors
;
Risk Assessment
;
Multivariate Analysis
;
Male
;
Female
;
Logistic Models
;
Middle Aged
;
Patient Positioning
;
Adult
7.COMPERA 2.0 risk stratification in patients with severe aortic stenosis: implication for group 2 pulmonary hypertension.
Zongye CAI ; Xinrui QI ; Dao ZHOU ; Hanyi DAI ; Abuduwufuer YIDILISI ; Ming ZHONG ; Lin DENG ; Yuchao GUO ; Jiaqi FAN ; Qifeng ZHU ; Yuxin HE ; Cheng LI ; Xianbao LIU ; Jian'an WANG
Journal of Zhejiang University. Science. B 2025;26(11):1076-1085
COMPERA 2.0 risk stratification has been demonstrated to be useful in patients with precapillary pulmonary hypertension (PH). However, its suitability for patients at risk for post-capillary PH or PH associated with left heart disease (PH-LHD) is unclear. To investigate the use of COMPERA 2.0 in patients with severe aortic stenosis (SAS) undergoing transcatheter aortic valve replacement (TAVR), who are at risk for post-capillary PH, a total of 327 eligible SAS patients undergoing TAVR at our institution between September 2015 and November 2020 were included in the study. Patients were classified into four strata before and after TAVR using the COMPERA 2.0 risk score. The primary endpoint was all-cause mortality. Survival analysis was performed using Kaplan-Meier curves, log-rank test, and Cox proportional hazards regression model. The study cohort had a median (interquartile range) age of 76 (70‒80) years and a pulmonary arterial systolic pressure of 33 (27‒43) mmHg (1 mmHg=0.133 kPa) before TAVR. The overall mortality was 11.9% during 26 (15‒47) months of follow-up. Before TAVR, cumulative mortality was higher with an increase in the risk stratum level (log-rank, both P<0.001); each increase in the risk stratum level resulted in an increased risk of death (hazard ratio (HR) 2.53, 95% confidential interval (CI) 1.54‒4.18, P<0.001), which was independent of age, sex, estimated glomerular filtration rate (eGFR), hemoglobin, albumin, and valve type (HR 1.76, 95% CI 1.01‒3.07, P=0.047). Similar results were observed at 30 d after TAVR. COMPERA 2.0 can serve as a useful tool for risk stratification in patients with SAS undergoing TAVR, indicating its potential application in the management of PH-LHD. Further validation is needed in patients with confirmed post-capillary PH by right heart catheterization.
Humans
;
Aortic Valve Stenosis/complications*
;
Aged
;
Hypertension, Pulmonary/mortality*
;
Male
;
Female
;
Transcatheter Aortic Valve Replacement
;
Aged, 80 and over
;
Risk Assessment/methods*
;
Proportional Hazards Models
;
Kaplan-Meier Estimate
;
Retrospective Studies
8.A fusion model of manually extracted visual features and deep learning features for rebleeding risk stratification in peptic ulcers.
Peishan ZHOU ; Wei YANG ; Qingyuan LI ; Xiaofang GUO ; Rong FU ; Side LIU
Journal of Southern Medical University 2025;45(1):197-205
OBJECTIVES:
We propose a multi-feature fusion model based on manually extracted features and deep learning features from endoscopic images for grading rebleeding risk of peptic ulcers.
METHODS:
Based on the endoscopic appearance of peptic ulcers, color features were extracted to distinguish active bleeding (Forrest I) from non-bleeding ulcers (Forrest II and III). The edge and texture features were used to describe the morphology and appearance of the ulcers in different grades. By integrating deep features extracted from a deep learning network with manually extracted visual features, a multi-feature representation of endoscopic images was created to predict the risk of rebleeding of peptic ulcers.
RESULTS:
In a dataset consisting of 3573 images from 708 patients with Forrest classification, the proposed multi-feature fusion model achieved an accuracy of 74.94% in the 6-level rebleeding risk classification task, outperforming the experienced physicians who had a classification accuracy of 59.9% (P<0.05). The F1 scores of the model for identifying Forrest Ib, IIa, and III ulcers were 90.16%, 75.44%, and 77.13%, respectively, demonstrating particularly good performance of the model for Forrest Ib ulcers. Compared with the first model for peptic ulcer rebleeding classification, the proposed model had improved F1 scores by 5.8%. In the simplified 3-level risk (high-risk, low-risk, and non-endoscopic treatment) classification task, the model achieved F1 scores of 93.74%, 81.30%, and 73.59%, respectively.
CONCLUSIONS
The proposed multi-feature fusion model integrating deep features from CNNs with manually extracted visual features effectively improves the accuracy of rebleeding risk classification for peptic ulcers, thus providing an efficient diagnostic tool for clinical assessment of rebleeding risks of peptic ulcers.
Humans
;
Deep Learning
;
Peptic Ulcer
;
Risk Assessment
;
Peptic Ulcer Hemorrhage
;
Recurrence
9.An atrial fibrillation prediction model based on quantitative features of electrocardiogram during sinus rhythm in the Chinese population.
Xiaoqing ZHU ; Yajun SHI ; Juan SHEN ; Qingsong WANG ; Tingting SONG ; Jiancheng XIU ; Tao CHEN ; Jun GUO
Journal of Southern Medical University 2025;45(2):223-228
OBJECTIVES:
To develop an early atrial fibrillation (AF) risk prediction model based on large-scale electrocardiogram (ECG) data from the Chinese population.
METHODS:
The data of multiple ECG records of 30 383 patients admitted in the Chinese PLA General Hospital between 2009 and 2023 were randomly divided into the training set and the internal testing set in a 7:3 ratio. The predictive factors were selected based on the training set using univariate analysis, LASSO regression, and the Boruta algorithm. Cox proportional hazards regression was used to establish the ECG model and the composite model incorporating age, gender, and ECG model score. The discrimination power, calibration, and clinical net benefits of the models were evaluated using the area under the receiver operating characteristic curve (AUROC), calibration curves, and decision curves.
RESULTS:
The cohort included 51.1% male patients with a median age of the patients of 51 (36, 62) years and an AF incidence of 4.5% (1370/30 383). In the ECG model, the parameters related to the P wave and QRS complex were identified as significant predictors. In the testing set, the AUROC of the ECG model for predicting 5-year AF risk was 0.77 (95% CI: 0.74-0.80), which was increased to 0.81 (95% CI: 0.78-0.83) after incorporating age and gender, with a net reclassification improvement of 0.123 and an integrated discrimination improvement of 0.04 (P<0.05). The calibration curve of the model was close to the diagonal line. Decision curve analysis showed that the clinical net benefit of the composite model was higher than that of the ECG model across the majority of threshold probability.
CONCLUSIONS
The composite model incorporating quantitative ECG features during sinus rhythm, along with age and gender, can effectively predict AF risk in the Chinese population, thus providing a low-cost screening tool for early AF risk assessment and management.
Humans
;
Atrial Fibrillation/epidemiology*
;
Electrocardiography
;
Middle Aged
;
Male
;
Female
;
China/epidemiology*
;
Proportional Hazards Models
;
Adult
;
Risk Factors
;
Risk Assessment
;
East Asian People
10.A cardiac magnetic resonance-based risk prediction model for left ventricular adverse remodeling following percutaneous coronary intervention for acute ST-segment elevation myocardial infarction: a multi-center prospective study.
Zhenyan MA ; Xin A ; Lei ZHAO ; Hongbo ZHANG ; Ke LIU ; Yiqing ZHAO ; Geng QIAN
Journal of Southern Medical University 2025;45(4):669-683
OBJECTIVES:
To develop a risk prediction model for left ventricular adverse remodeling (LVAR) based on cardiac magnetic resonance (CMR) parameters in patients undergoing percutaneous coronary intervention (PCI) for acute ST-segment elevation myocardial infarction (STEMI).
METHODS:
A total of 329 acute STEMI patients undergoing primary PCI at 8 medical centers from January, 2018 to December, 2021 were prospectively enrolled. The parameters of CMR, performed at 7±2 days and 6 months post-PCI, were analyzed using CVI42 software. LVAR was defined as an increase >20% in left ventricular end-diastolic volume or >15% in left ventricular end-systolic volume at 6 months compared to baseline. The patients were randomized into training (n=230) and validation (n=99) sets in a 7∶3 ratio. In the training set, potential predictors were selected using LASSO regression, followed by univariate and multivariate logistic regression to construct a nomogram. Model performance was evaluated using receiver-operating characteristic (ROC) curves, area under the curve (AUC), calibration curves, and decision curve analysis.
RESULTS:
LVAR occurred in 100 patients (30.40%), who had a higher incidence of major adverse cardiovascular events than those without LVAR (58.00% vs 16.16%, P<0.001). Left ventricular global longitudinal strain (LVGLS; OR=0.76, 95% CI: 0.61-0.95, P=0.015) and left atrial active strain (LAAS; OR=0.78, 95% CI: 0.67-0.92, P=0.003) were protective factors for LVAR, while infarct size (IS; OR=1.05, 95% CI: 1.01-1.10, P=0.017) and microvascular obstruction (MVO; OR=1.26, 95% CI: 1.01-1.59, P=0.048) were risk factors for LVAR. The nomogram had an AUC of 0.90 (95% CI: 0.86-0.94) in the training set and an AUC of 0.88 (95% CI: 0.81-0.94) in the validation set.
CONCLUSIONS
LVGLS, LAAS, IS, and MVO are independent predictors of LVAR in STEMI patients following PCI. The constructed nomogram has a strong predictive ability to provide assistance for management and early intervention of LVAR.
Humans
;
Percutaneous Coronary Intervention
;
Prospective Studies
;
ST Elevation Myocardial Infarction/diagnostic imaging*
;
Ventricular Remodeling
;
Magnetic Resonance Imaging
;
Male
;
Female
;
Middle Aged
;
Risk Factors
;
Aged
;
Risk Assessment


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