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
data-mce-style="text-align: justify;">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).
METHODSdata-mce-style="text-align: justify;">A 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.
RESULTSdata-mce-style="text-align: justify;">A 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%.
CONCLUSIONdata-mce-style="text-align: justify;">Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.
Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment
3.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.Research Progress in Bleeding Risk Assessment of Non-Vitamin K Antagonist Oral Anticoagulant in Atrial Fibrillation.
Chao YU ; Wei ZHOU ; Tao WANG ; Ling-Juan ZHU ; Hui-Hui BAO ; Xiao-Shu CHENG
Acta Academiae Medicinae Sinicae 2025;47(3):452-461
The introduction of non-vitamin K antagonist oral anticoagulant (NOAC) into clinical use heralds a new age for anticoagulation therapy in patients with atrial fibrillation (AF).However,anticoagulation-related bleeding is currently a major challenge in the anticoagulation process.Assessing the risk of anticoagulation-related bleeding is an important part for the management of patients with AF.Clinical risk factor scores have moderate ability to predict the risk of anticoagulation-related bleeding.To improve the anticoagulation safety of NOACs,additional clinical and biological markers and genetic polymorphisms should be considered to enhance the predictive capability for anticoagulation-related bleeding.This review summarizes the challenges in the management of anticoagulation therapy,with emphases on the bleeding risk scores,biomarkers,clinical indicators,and genetic loci currently used to guide the risk assessment of anticoagulation-related bleeding in AF patients.This review is expected to provide research insights and reference frameworks for predicting and evaluating the bleeding risk associated with NOACs.
Humans
;
Atrial Fibrillation/drug therapy*
;
Anticoagulants/therapeutic use*
;
Hemorrhage/chemically induced*
;
Risk Assessment
;
Administration, Oral
;
Risk Factors
7.Effect of Health Failure Mode and Effect Analysis in Optimizing the Management Process of Postoperative Diabetes Insipidus in Children Undergoing Neurosurgery.
Hui-Yun ZHAO ; Xiao-Ying XU ; Bo WU ; Shi TANG ; Xin-Meng LI
Acta Academiae Medicinae Sinicae 2025;47(4):582-589
Objective To investigate the effect of health failure mode and effect analysis(HFMEA)in optimizing the management process of postoperative diabetes insipidus in children undergoing neurosurgery.Methods Based on HFMEA,a management flowchart for postoperative diabetes insipidus in children undergoing neurosurgery was created.Brainstorming was adopted to identify failure modes in the workflow,analyze risk factors,and develop improvement measures,thereby refining the management flowchart.The amelioration and prognosis of diabetes insipidus in these children before(October 2022 to November 2023)and after(January 2024 to February 2025)implementation of the management flowchart were compared.Results The HFMEA-based management process for postoperative diabetes insipidus in children undergoing neurosurgery alleviated the symptoms of diabetes insipidus regarding the number of diabetes insipidus in the pediatric intensive care unit(P=0.006),the average daily urine output in the pediatric intensive care unit(P=0.001),the proportion of electrolyte abnormalities at discharge/transfer(P=0.037),the duration of mechanical ventilation(P=0.007),and the length of stay in the intensive care unit(P=0.001).Conclusion The HFMEA-based management process for postoperative diabetes insipidus in children undergoing neurosurgery is beneficial to the optimization of the management process,the alleviation of postoperative diabetes insipidus,and the improvement of prognosis in these children.
Humans
;
Diabetes Insipidus/etiology*
;
Neurosurgical Procedures/adverse effects*
;
Child
;
Postoperative Complications/therapy*
;
Healthcare Failure Mode and Effect Analysis
;
Intensive Care Units, Pediatric
;
Risk Factors
8.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
9.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
10.Detailed hazard assessment of ethylbenzene to establish an indoor air quality guideline in Japan.
Kaoru INOUE ; Yoko HIRABAYASHI ; Kenichi AZUMA
Environmental Health and Preventive Medicine 2025;30():34-34
BACKGROUND:
Indoor air quality (IAQ) is an important determinant of human health. In Japan, IAQ guidelines have been established for 13 chemicals since 1997. Regarding ethylbenzene (EB), a previous guideline value of 3800 µg/m3 was established in 2000. However, the Ministry of Health, Labour, and Welfare decided to revise the value because of the publication of new hazard information after the establishment of the previous guideline value and the establishment of their respective IAQ guidelines by foreign organizations based on the new hazard information. This study conducted a detailed hazard assessment on EB and derived hazard assessment values to provide a toxicologically valid basis for revising the IAQ guideline value.
METHODS:
As it was defined that the IAQ guidelines would not exert adverse health effects on humans even if they inhaled the chemicals from indoor air over a lifetime, we investigated the general toxicity, developmental and reproductive toxicity, genotoxicity, and carcinogenicity of EB based on reliable hazard information cited in published assessment documents by domestic, foreign, or international risk assessment organizations. All the collected hazard information was examined, and we originally judged the no-observed adverse effect level and the lowest observed adverse effect level of each toxicity study. We then selected the most appropriate key study, an endpoint, and a point of departure and derived the hazard assessment values for each toxicity category. Finally, we selected a representative hazard assessment value for EB from the minimum hazard assessment value among general toxicity, developmental and reproductive toxicity, and carcinogenicity.
RESULTS:
Among the three toxicity categories, the minimum hazard assessment value was obtained from general toxicity, which was 0.0858 ppm (370 µg/m3) based on the loss of the outer hair cells in the organ of Corti in the cochlea observed in a 13-week repeated-dose inhalation toxicity study using rats.
CONCLUSIONS
It would be appropriate to adopt 0.0858 ppm (370 µg/m3) as a representative hazard assessment value to provide a basis for revising the IAQ guideline value for EB.
Japan
;
Air Pollution, Indoor/adverse effects*
;
Risk Assessment
;
Humans
;
Benzene Derivatives/toxicity*
;
Guidelines as Topic
;
Animals
;
Air Pollutants/toxicity*


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