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 (p<0.001) and lymphovascular space invasion (p<0.001) significantly correlated with lymph node metastasis. However, tumor size and p53abn were not significantly associated with lymph node metastasis. p53abn overexpression was significantly associated with non-endometrioid histology at 33% and Grade 3 tumors at 23%. Preoperative grading demonstrated moderate reliability (0.51) with postoperative grading, with an agreement of 65.4%.
CONCLUSIONTumor 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.Risk Stratification and Referral Patterns for Metabolic Liver Disease in Type 2 Diabetes: Real-World FIB-4 Utilization
Calven Fu Hao Lim ; Min Chow ; Jess Jie Ying Ng
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):38-
Introduction:
Metabolic dysfunction–associated steatotic liver disease
(MASLD) is common among patients with type 2 diabetes
(T2D) and increases the risk of cirrhosis, yet fibrosis often
remains clinically silent until hepatic decompensation
occurs. Current diabetes guidelines recommend noninvasive fibrosis risk stratification, such as the fibrosis-4
index (FIB-4), during routine diabetes care, but real-world
adoption remains unclear. This study aimed to evaluate
the implementation of FIB-4 as a risk stratification tool in
patients with T2D.
Methodology:
This was a retrospective study of consecutive patients with
T2D who were seen in the Diabetes Clinic of University of
Malaya Medical Centre in 2023. Patients were identified as
having a higher risk of future cirrhosis based on elevated
FIB-4 ≥1.3.
Results:
The data for 1,009 patients were analyzed, median age
62 (52–71) years, 40.7% male. Elevated FIB-4 was seen in
28.8% (291/1,009). Only 12.0% (35/291) with elevated FIB-4
were referred for further hepatology evaluation, whereas
3.3% (24/718) with low FIB-4 were referred. Among the
patients with elevated FIB-4, those referred were more
likely known to have hepatic steatosis, had higher alanine
aminotransferase, aspartate aminotransferase, gammaglutamyl transferase, and lower low-density lipoprotein cholesterol and platelet count. Over a median follow-up of
1.71 (0.99–1.95) years, totaling 1,440 person-years, two liverrelated events (0.2%) occurred (one each in the elevated
and low FIB-4 group, respectively). Sixteen patients (4.0%)
experienced cardiovascular events, including one patient
(0.6%) in the elevated FIB-4 group and 15 (2.9%) in the low
FIB-4 group.
Conclusion
Despite automated FIB-4 reporting, this risk stratification
tool was underutilized in T2D, resulting in missed
opportunities for early identification and management of
more severe liver disease. Integration of FIB-4 into diabetes
care workflows, alongside structured referral pathways
and clinician education, may improve early detection and
reduce long-term hepatic complications in T2D.
Diabetes Mellitus, Type 2
;
Risk Assessment
;
Liver Diseases
;
Referral and Consultation
4.Risk Assessment for Ramadan Fasting in People With Diabetes in Hospital-Based Diabetes Clinics Using the Updated 2026 IDF-DAR Risk Calculator
Raja Nurazni Raja Azwan ; Chin Voon Tong ; Lisa Mohamed Nor ; Marisa Khatijah Borhan ; Syarifah Syahirah Syed Abas ; Poh Shean Wong ; Ying Jie Tan ; Shartiyah Ismail ; Eunice Yi Chwen Lau ; Yueh Chien Kuan ; Noor Hafis Md Tob ; Shu Teng Chai ; Pei Lin Chan ; Xe Hui Lee ; Wei Wei Ng ; Jin Hui Ho ; Miza Hiryanti Zakaria ; Rabeah Md Zuki ; Wan Mohd Hafez Wan Hamzah ; Melissa Vergis ; Choon Peng Sun ; Vanusha Devaraja Pillai ; Chee Koon Low ; Shazatul Reza Mohd Redzuan ; Xin-Yi Ooi ; Siti Sanaa Wan Azman ; Deviga Lachumanan ; Saiful Shahrizal Shudim ; Zanariah Hussein
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):42-43
Introduction:
The 2021 IDF-DAR risk calculator had been previously
evaluated in multiple studies and subsequently widely
accepted and applied in clinical practice as a practical
standardized tool for patient risk stratification. Recently
updated, the 2026 IDF-DAR Risk calculator enables a more individualized, evidence-related evaluation of patientrelated and disease-related risk factors, incorporating
modern diabetes technologies, including continuous
glucose monitoring (CGM), automated insulin delivery
(AID) systems, and advanced insulin formulations to
enhance risk stratification. This tool allows medical
professionals to tailor Ramadan practices based on overall
factors toward promoting safe fasting.
Methodology:
This prospective multicentre observational study recruited
adults with Type 1 and Type 2 diabetes attending public
hospitals nationwide. People with diabetes (PwD) intending
to perform Ramadan fasting were invited to participate
and assessed using the 2026 IDF-DAR Risk Calculator in
the 6-week pre-Ramadan period between 30th January and
19th March 2026.
Results:
A total of 458 PwD were evaluated and stratified into low
(15.7%), moderate (41%), and high risk (43.3%) categories.
Most participants had Type 2 diabetes (83.6%), with 60.3%
having a disease duration exceeding 10 years and 43%
exhibiting poor glycemic control (hemoglobin A1c >9%).
Insulin therapy was used by 76.4% of participants, including
two individuals with Type 1 diabetes using AID systems.
Most participants reported no recent hypoglycemia (76.4%),
81.0% performed glucose monitoring, and 3.3% used CGM.
Severe comorbidities were uncommon, with 1.1% having
unstable macrovascular disease and 4.4% advanced chronic
kidney disease (estimated glomerular filtration rate <30).
Notably, 72.2% received structured Ramadan education.
Conclusion
Majority of PwD attending tertiary diabetes clinics were
in the moderate- to high-risk category and intended to
fast despite medical advice against fasting in some cases.
Although most participants were on insulin therapy,
hypoglycemia was low in the pre-Ramadan period.
Integration of modern technologies, advanced insulin
therapies, and structured education may support safer
fasting practices.
Risk Assessment
;
Diabetes Mellitus
;
Hospitals
;
Fasting
5.Integrating Body Composition and Biochemical Markers for Metabolic Risk Stratification in Lifestyle Intervention
Mohd Nahar Azmi Bin Mohamed ; Nor Zurina Zainol ; Ng Ai Kah
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):57-58
Introduction:
Obesity is a heterogeneous metabolic disease in which
individuals with similar body weight may exhibit
markedly different physiological risk profiles. Conventional monitoring using weight alone may fail to capture
underlying metabolic and cellular changes during
lifestyle intervention. Integrating body composition and
biochemical markers may improve risk stratification in
clinical practice.
Methodology:
A prospective observational analysis was conducted among
participants enrolled in a structured lifestyle programme.
Baseline and follow-up assessments included biochemical
markers (fasting glucose, renal function, lipid profile, and
liver enzymes) alongside body composition parameters
derived from bioelectrical impedance analysis, including
percent body fat, visceral fat area, skeletal muscle index
(SMI), and phase angle (PhA). Changes over time and
associations between metabolic and body composition
variables were analyzed.
Results:
Metabolic responses varied substantially despite similar
anthropometric profiles. Renal function improved significantly, with increased estimated glomerular filtration rate
(eGFR) observed over time (p = 0.01), and was inversely
associated with fasting glucose (r = −0.41, p <0.01). Lipid
abnormalities persisted, although reductions in lowdensity lipoprotein cholesterol were noted (p = 0.04). Total
cholesterol remained elevated and correlated positively
with fasting glucose (r = 0.36, p = 0.02). Improvements
in aspartate aminotransferase were observed (p = 0.03),
while other liver markers remained stable. Notably,
body composition parameters, including PhA and SMI,
demonstrated variability independent of weight change,
reflecting heterogeneous physiological adaptation.
Conclusion
Metabolic and physiological responses to lifestyle
intervention are heterogeneous and not fully captured
by changes in body weight alone. The integration of
bioimpedance-derived parameters with biochemical
markers provides a more comprehensive approach
to metabolic risk stratification and may support more
personalized clinical management in obesity care.
Biomarkers
;
Risk Assessment
;
Body Composition
6.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
7.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*
8.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
9.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
10.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


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