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.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
7.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
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.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*


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