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.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
3.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*
4.Construction and Validation of a Prognostic Nomogram Model for Chronic Myeloid Leukemia Patients.
Li-Ying LIU ; Zheng GE ; Ji-Feng WEI ; Li-Na ZHAO ; Zhi-Mei CAI
Journal of Experimental Hematology 2025;33(3):745-752
OBJECTIVE:
To screen factors affecting the prognosis of chronic myeloid leukemia (CML) patients, and construct a nomogram model for event-free survival (EFS).
METHODS:
To screen out meaningful variables by univariate and multivariate Cox regression analysis in CML patients, and construct a nomogram model using R software. The nomogram was validated using consistency index (C-index), receiver operating characteristic (ROC) curve, area under the ROC curve (AUC), calibration curve, decision curve analysis (DCA), and risk stratification analysis.
RESULTS:
This study analyzed data from 116 CML patients. Univariate and multivariate Cox regression analysis demonstrated that age, peripheral blood basophil percentage, BCR-ABL1 IS at 3 months, and red blood cell distribution width (RDW) were independent prognostic factors of EFS. Subsequently, a nomogram was constructed based on the above predictors. The C-index of the nomogram was 0.733(95%CI : 0.676-0.790). The AUC values for predicting 1-, 3-, and 5-year EFS rate were 0.765, 0.855, and 0.827, respectively. The results of the calibration curve and DCA curve showed that the predictive model had good consistency, as well as strong clinical utility. The patients were stratified into high-risk group and low-risk group based on the total score of the model, there was a significant difference in EFS between the two groups (P < 0.001).
CONCLUSION
Age, peripheral blood basophil percentage, BCR-ABL1 IS at 3 months, and RDW were associated with the prognosis of CML patients. The nomogram model constructed in this study can accurately predict the prognostic status of CML patients, but its widespread application still requires external and prospective validation.
Nomograms
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/mortality*
;
Proportional Hazards Models
;
Erythrocyte Indices
;
Risk Assessment/methods*
;
Fusion Proteins, bcr-abl/genetics*
;
Basophils
;
Leukocyte Count
;
Humans
5.Characteristics and Risk Analysis of COVID-19 Infection in Patients with Multiple Myeloma after Autologous Hematopoietic Stem Cell Transplantation.
Meng-Meng PAN ; Shi-Wei JIN ; Wan-Yan OUYANG ; Yan WAN ; Yi TAO ; Yuan-Fang LIU ; Wei-Ping ZHANG ; Jian-Qing MI
Journal of Experimental Hematology 2025;33(5):1358-1365
OBJECTIVE:
To retrospectively analyze the characteristics and influencing factors of COVID-19 infection in patients with multiple myeloma (MM) who underwent autologous hematopoietic stem cell transplantation (AHSCT).
METHODS:
The clinical data of MM patients who underwent AHSCT in Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from May 26, 2021 to December 26, 2022 were collected. The onset of COVID-19 infection, corresponding symptoms and laboratory tests were followed up in outpatient or by the means of telephone contact and online questionnaires. Related analysis was then performed.
RESULTS:
This study included 96 patients, and 72 cases among them were infected with COVID-19 while 24 cases were uninfected. Logistic regression analysis showed that vaccination did not significantly reduce the risk of COVID-19 infection, but patients who received two doses of the vaccine had a lower risk of developing moderate and severe disease than those who did not receive or received one dose (OR =0.06, P =0.029). Patients who received daratumumab before had a higher risk of COVID-19 infection (OR =5.78, P =0.039), while those with a history of immunomodulatory drugs (IMiDs) had the opposite effect (OR =0.31, P =0.028). The use of both drugs did not affect the severity of COVID-19 infection.
CONCLUSION
For MM patients undergoing AHSCT as first-line chemotherapy, COVID-19 vaccination does not significantly reduce the infection rate, but it plays a role in preventing moderate and severe cases. The application of antineoplastic drugs with different mechanisms has a certain impact on the susceptibility to the COVID-19, which should be considered comprehensively when creating treatment plans.
Humans
;
Multiple Myeloma/complications*
;
COVID-19/epidemiology*
;
Hematopoietic Stem Cell Transplantation
;
Transplantation, Autologous
;
Retrospective Studies
;
Risk Assessment
;
Risk Factors
;
Male
;
Female
;
Middle Aged
;
SARS-CoV-2
;
Adult
;
Antibodies, Monoclonal
6.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
data-mce-style="text-align: justify;">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.
OBJECTIVESdata-mce-style="text-align: justify;">This 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.
METHODSdata-mce-style="text-align: justify;">This 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.
RESULTSdata-mce-style="text-align: justify;">The 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.
CONCLUSIONdata-mce-style="text-align: justify;">Our 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
7.Development of the modified Safety Attitude Questionnaire for the medical imaging department.
Ravi Chanthriga ETURAJULU ; Maw Pin TAN ; Mohd Idzwan ZAKARIA ; Karuthan CHINNA ; Kwan Hoong NG
Singapore medical journal 2025;66(1):33-40
INTRODUCTION:
Medical errors commonly occur in medical imaging departments. These errors are frequently influenced by patient safety culture. This study aimed to develop a suitable patient safety culture assessment tool for medical imaging departments.
METHODS:
Staff members of a teaching hospital medical imaging department were invited to complete the generic short version of the Safety Attitude Questionnaire (SAQ). Internal consistency and reliability were evaluated using Cronbach's α. Confirmatory factor analysis (CFA) was conducted to examine model fit. A cut-off of 60% was used to define the percentage positive responses (PPR). PPR values were compared between occupational groups.
RESULTS:
A total of 300 complete responses were received and the response rate was 75.4%. In reliability analysis, the Cronbach's α for the original 32-item SAQ was 0.941. Six subscales did not demonstrate good fit with CFA. A modified five-subscale, 22-item model (SAQ-MI) showed better fit (goodness-to-fit index ≥0.9, comparative fit index ≥ 0.9, Tucker-Lewis index ≥0.9 and root mean square error of approximation ≤0.08). The Cronbach's α for the 22 items was 0.921. The final five subscales were safety and teamwork climate, job satisfaction, stress recognition, perception of management and working condition, with PPR of 62%, 68%, 57%, 61% and 60%, respectively. Statistically significant differences in PPR were observed between radiographers, doctors and others occupational groups.
CONCLUSION
The modified five-factor, 22-item SAQ-MI is a suitable tool for the evaluation of patient safety culture in a medical imaging department. Differences in patient safety culture exist between occupation groups, which will inform future intervention studies.
Humans
;
Surveys and Questionnaires
;
Patient Safety
;
Attitude of Health Personnel
;
Diagnostic Imaging
;
Reproducibility of Results
;
Male
;
Female
;
Adult
;
Job Satisfaction
;
Factor Analysis, Statistical
;
Middle Aged
;
Hospitals, Teaching
;
Safety Management
;
Organizational Culture
;
Medical Errors/prevention & control*
8.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
9.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
10.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


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