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.Development and validation of the sarcopenia composite index: A comprehensive approach for assessing sarcopenia in the ageing population.
Hsiu-Wen KUO ; Chih-Dao CHEN ; Amy Ming-Fang YEN ; Chenyi CHEN ; Yang-Teng FAN
Annals of the Academy of Medicine, Singapore 2025;54(2):101-112
INTRODUCTION:
The diagnosis of sarcopenia relies on key indicators such as handgrip strength, walking speed and muscle mass. Developing a composite index that integrates these measures could enhance clinical evaluation in older adults. This study aimed to standardise and combine these metrics to establish a z score for the sarcopenia composite index (ZoSCI) tailored for the ageing population. Additionally, we explore the risk factors associated with ZoSCI to provide insights into early prevention and intervention strategies.
METHOD:
This retrospective study analysed data between January 2017 and December 2021 from an elderly health programme in Taiwan, applying the Asian Working Group for Sarcopenia criteria to assess sarcopenia. ZoSCI was developed by standardising handgrip strength, walking speed and muscle mass into z scores and integrating them into a composite index. Receiver operating characteristic (ROC) curve analysis was used to determine optimal cut-off values, and multiple regression analysis identified factors influencing ZoSCI.
RESULTS:
Among the 5047 participants, the prevalence of sarcopenia was 3.7%, lower than the reported global prevalence of 3.9-15.4%. ROC curve analysis established optimal cut-off points for distinguishing sarcopenia in ZoSCI: -1.85 (sensitivity 0.91, specificity 0.88) for males and -1.97 (sensitivity 0.93, specificity 0.88) for females. Factors associated with lower ZoSCI included advanced age, lower education levels, reduced exercise frequency, lower body mass index and creatinine levels.
CONCLUSION
This study introduces ZoSCI, a new compo-site quantitative indicator for identifying sarcopenia in older adults. The findings highlight specific risk factors that can inform early intervention. Future studies should validate ZoSCI globally, with international collaborations to ensure broader applicability.
Humans
;
Sarcopenia/physiopathology*
;
Male
;
Aged
;
Female
;
Retrospective Studies
;
Hand Strength
;
Taiwan/epidemiology*
;
ROC Curve
;
Aged, 80 and over
;
Risk Factors
;
Walking Speed
;
Geriatric Assessment/methods*
;
Prevalence
;
Muscle, Skeletal
;
Middle Aged
3.Machine learning to risk stratify chest pain patients with non-diagnostic electrocardiogram in an Asian emergency department.
Ziwei LIN ; Tar Choon AW ; Laurel JACKSON ; Cheryl Shumin KOW ; Gillian MURTAGH ; Siang Jin Terrance CHUA ; Arthur Mark RICHARDS ; Swee Han LIM
Annals of the Academy of Medicine, Singapore 2025;54(4):219-226
INTRODUCTION:
Elevated troponin, while essential for diagnosing myocardial infarction, can also be present in non-myocardial infarction conditions. The myocardial-ischaemic-injury-index (MI3) algorithm is a machine learning algorithm that considers age, sex and cardiac troponin I (TnI) results to risk-stratify patients for type 1 myocardial infarction.
METHOD:
Patients aged ≥25 years who presented to the emergency department (ED) of Singapore General Hospital with symptoms suggestive of acute coronary syndrome with no diagnostic 12-lead electrocardiogram (ECG) changes were included. Participants had serial ECGs and high-sensitivity troponin assays performed at 0, 2 and 7 hours. The primary outcome was the adjudicated diagnosis of type 1 myocardial infarction at 30 days. We compared the performance of MI3 in predicting the primary outcome with the European Society of Cardiology (ESC) 0/2-hour algorithm as well as the 99th percentile upper reference limit (URL) for TnI.
RESULTS:
There were 1351 patients included (66.7% male, mean age 56 years), 902 (66.8%) of whom had only 0-hour troponin results and 449 (33.2%) with serial (both 0 and 2-hour) troponin results available. MI3 ruled out type 1 myocardial infarction with a higher sensitivity (98.9, 95% confidence interval [CI] 93.4-99.9%) and similar negative predictive value (NPV) 99.8% (95% CI 98.6-100%) as compared to the ESC strategy. The 99th percentile cut-off strategy had the lowest sensitivity, specificity, positive predictive value and NPV.
CONCLUSION
The MI3 algorithm was accurate in risk stratifying ED patients for myocardial infarction. The 99th percentile URL cut-off was the least accurate in ruling in and out myocardial infarction compared to the other strategies.
Humans
;
Male
;
Female
;
Emergency Service, Hospital
;
Middle Aged
;
Electrocardiography
;
Machine Learning
;
Singapore
;
Chest Pain/blood*
;
Troponin I/blood*
;
Myocardial Infarction/blood*
;
Risk Assessment/methods*
;
Aged
;
Algorithms
;
Acute Coronary Syndrome/blood*
;
Adult
;
Sensitivity and Specificity
4.Chronic obstructive pulmonary disease 30-day readmission metric: Risk adjustment for multimorbidity and frailty.
Anthony YII ; Isaac FONG ; Sean Chee Hong LOH ; Jansen Meng-Kwang KOH ; Augustine TEE
Annals of the Academy of Medicine, Singapore 2025;54(7):419-427
INTRODUCTION:
The 30-day readmission rate for chronic obstructive pulmonary disease (COPD) is a common performance metric but may be confounded by factors unrelated to quality of care. Our aim was to assess how sociodemographic factors, multimorbidity and frailty impact 30-day readmission risk after COPD hospitalisation, and whether risk adjustment alters interpretation of temporal trends.
METHOD:
This is a retrospective analysis of administra-tive data from October 2017 to June 2023 from Changi General Hospital, Singapore. Multivariable mixed-effects logistic regression models were used to estimate unadjusted and risk-adjusted 30-day readmission odds. Covariates included age, sex, race, Charlson Comorbidity Index (CCI), Hospital Frailty Risk Score (HFRS) and year. Temporal trends in readmission risk were compared across unadjusted and adjusted models.
RESULTS:
Of the 2774 admissions, 749 (27%) resulted in 30-day readmissions. Higher CCI (CCI≥4 versus [vs] CCI=1: adjusted odds ratio [aOR] 2.00, 95% confidence interval [CI] 1.33-2.99, P=0.003; CCI 2-3 vs CCI=1: aOR 1.50, 95% CI 1.15-1.96, P=0.001) and higher HFRS (≥5 vs <5: aOR 1.29, 95% CI 1.01-1.65, P=0.04) were independently associated with increased readmission risk. While unadjusted analyses showed no significant temporal trends, the risk-adjusted model revealed a 32-35% reduction in readmission odds in 2021-2023 compared to baseline.
CONCLUSION
Multimorbidity and frailty significantly impact COPD readmissions. Risk adjustment revealed improvements in readmission risk not evident in unadjusted analyses, emphasising the importance of applying risk adjustments to ensure valid performance metrics.
Humans
;
Pulmonary Disease, Chronic Obstructive/therapy*
;
Patient Readmission/trends*
;
Male
;
Female
;
Retrospective Studies
;
Aged
;
Singapore/epidemiology*
;
Multimorbidity
;
Frailty/epidemiology*
;
Middle Aged
;
Risk Adjustment
;
Aged, 80 and over
;
Logistic Models
;
Risk Factors
5.Risk-based screening programmes for cancer diagnosis: A systematic review with narrative synthesis.
Yong Yi TAN ; Sara TASNIM ; Mohammad Fahmy Bin FADZIL ; Xin Rong NG ; Sabrina Kw WONG ; Jo-Anne Elizabeth MANSKI-NANKERVIS ; Joseph Jao-Yiu SUNG ; Joanne NGEOW
Annals of the Academy of Medicine, Singapore 2025;54(10):644-663
INTRODUCTION:
Risk-based screening (RBS) has emerged as a promising alternative to age-based cancer screening. However, evidence regarding real-world implementation outcomes remains fragmented. Thus, a systematic review was conducted to evaluate the implementation metho-dologies and outcomes of RBS programmes across different cancer types.
METHODS:
MEDLINE, Embase, CINAHL, Web of Science, Cochrane Central Register of Controlled Trials and Scopus were systematically searched from their respective dates of inception up to 8 July 2024. Prospective and rando-mised controlled trials (RCTs), which implement the RBS of cancer in an asymptomatic population, or studies retrospectively evaluating the outcomes of the same were included. Geographic distribution, population characteristics, RBS methodology, diagnostic accuracy and clinical outcomes were narratively synthesised.
RESULTS:
Among the 33 included studies (i.e. 21 prospective cohort, 8 RCTs, 3 retrospective and 1 non-RCT), sample sizes ranged from 102 to 1,429,890 participants. Most RBS trials were conducted in China (n=7, 21.2%), followed by the Netherlands (n=4, 12.1%) then the US, Australia and Sweden (n=3, 9.8%). Studies predominantly examined colorectal (27.3%), breast (21.2%) and prostate cancer (18.2%). Three main stratification approaches emerged: algorithmic (48.5%), validated risk models (39.4%) and physician assessment (9.1%). Implementation outcomes showed higher uptake in moderate-risk (75.4%) compared to high-risk (71.3%) and low-risk groups (67.9%). Five studies demonstrated cost-effectiveness with increased quality-adjusted life years, while 12 studies showed superior or non-inferior cancer detection rates compared to traditional screening.
CONCLUSION
The RBS of cancer has the potential to optimise healthcare resource allocation while minimising harm and increasing receptiveness for patients. More work is needed to evaluate long-term outcomes prior to the scaling of RBS programmes.
Humans
;
Early Detection of Cancer/methods*
;
Neoplasms/diagnosis*
;
Risk Assessment
;
Mass Screening/methods*
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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