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.A cultural values model of pakikipag-ugnayan: Examining hiya, pakikisama, and pakikipag-ugnayan among Filipino generation Z nurses.
Angelika B. Avila ; Francis Oliver M. Aldaba ; Maryjoy Loraine T. Almonte ; Enrique B. Alzate ; Trisha B. Amita ; Ma. Andrea M. Avila ; Zg Jungco A. Asoy ; Tristan Jourdan C. Dela Cruz
Acta Medica Philippina 2026;60(9):91-99
OBJECTIVES
This study explored the interplay of three Filipino cultural values—hiya (modesty/self-restraint), pakikisama (conflict-avoidance dimension of social harmony), and pakikipag-ugnayan (professional engagement, characterized by vigor, dedication, and absorption)—among Generation Z nurses in Quezon City. Specifically, it assessed their levels, examined interrelationships through correlation and path analysis, and developed a framework to illustrate their influence on nursing practice. In the Filipino context, hiya encompasses both positive dimensions, such as conscientiousness, moral accountability, and social responsibility, and constraining dimensions, including excessive self-restraint, fear of criticism, and inhibition. Pakikisama, while fostering harmony, may discourage assertiveness and limit open communication. Pakikipag-ugnayan, conceptualized here as engagement, reflects dedication, vigor, and absorption, which are vital for performance, patient safety, and workforce retention.
METHODSA descriptive–correlational design was utilized to assess the relationships among hiya, pakikisama, and pakikipag-ugnayan. Data were gathered through a structured, self-administered questionnaire comprising validated scales for each construct, distributed in online formats to accommodate participants’ availability and work schedules. The purposive sample consisted of 115 Filipino Generation Z nurses engaged in direct patient care in various healthcare facilities in Quezon City. Data analysis involved descriptive statistics to summarize variable scores, Spearman’s rho to examine bivariate correlations, and path analysis to determine the direct and indirect effects among the variables. The results of the path analysis were used to develop a proposed framework illustrating the interplay of these cultural values in nursing practice.
RESULTSPath analysis revealed distinct patterns in the interplay of hiya, pakikisama, and pakikipag-ugnayan among Generation Z nurses in Quezon City. Very high hiya scores (mean = 5.32) reflected both moral accountability and restraint-oriented tendencies. Despite these positive indicators, hiya showed a negative correlation with pakikipag-ugnayan, suggesting that its inhibiting side—marked by fear of criticism and avoidance of mistakes—may overshadow its constructive moral aspects. In contrast, the path analysis identified a moderate positive direct effect between hiya and pakikipag-ugnayan (β = 0.400, pCONCLUSION
Among Generation Z nurses, hiya demonstrates a dual role: while its ethical and conscientious aspects can strengthen pakikipag-ugnayan, its inhibiting side may suppress pakikipag-ugnayan. Pakikisama, operationalized as conflict avoidance and withholding dissent, emerged as a barrier to pakikipag-ugnayan by discouraging open communication. These findings informed the development of the Hiya–Pakikisama– Pakikipag-ugnayan Cultural Dynamics Framework, which illustrates how cultural values can simultaneously enable and constrain professional engagement. The framework has potential applications in nursing education and organizational practice, particularly in designing reflective learning, mentorship, and communication strategies that balance cultural sensitivity with assertiveness. Further validation across generations and healthcare settings is recommended to refine its applicability.
Human ; Weights And Measures ; Sensitivity And Specificity ; Retention (psychology) ; Education, Nursing ; Social Responsibility ; Appointments And Schedules ; Conflict (psychology)
3.Elevated advanced glycation endproducts is a risk factor for stenosis after primary arteriovenous fistula surgery.
Tianhong LI ; Xinfang QIN ; Lili WEI ; Huixin BI
Journal of Southern Medical University 2025;45(8):1663-1671
OBJECTIVES:
To investigate the effect of serum advanced glycation endproducts (AGEs) on stenosis after first autologous arteriovenous fistula (AVF) in patients with end-stage renal disease (ESRD).
METHODS:
Patients with ESRD undergoing standard native arteriovenous fistula (AVF) for the first time in the Department of Nephrology, Affiliated Hospital of Guilin Medical University from February to June 2022 were prospectively enrolled. The preoperative general data, clinical examination results and ultrasound data of the operated limbs were collected. The patients with and without stenosis within 2 months after the operation were compared for preoperative serum AGEs levels detected using ELISA and the clinical parameters. Logistic regression analysis was used to analyze the independent risk factors of AVF stenosis, and the sensitivity and specificity of AGEs for predicting postoperative stenosis were analyzed using receiver-operating characteristic (ROC) curve.
RESULTS:
Of the 94 patients enrolled, 34 had postoperative arteriovenous stenosis and 60 had no stenosis. The number of diabetic patients differed significantly between stenosis group and non-stenosis group (P<0.001). Serum AGEs levels, which were negatively correlated with serum phosphorus level (P<0.05), were significantly higher in stenosis group than in non-stenosis group (Z=-2.837, P=0.005). Serum AGE level was an independent risk factor for postoperative stenosis after AVF (OR=1.251, 95% CI:1.096-1.423, P<0.001). For predicting AVF stenosis, the area under the ROC curve (AUC) of AGEs was 0.677 (P=0.007, 95% CI: 0.572-0.770), with a specificity of 90.00% and a sensitivity of 52.94% at the optimal cut-off value of 8.43 µg/mL; AGEs combined with fibrinogen had an AUC of 0.763 (P<0.001, 95% CI: 0.664-0.844), with a specificity of 73.33% and a sensitivity of 70.59% at the optimal cut-off value of 0.30.
CONCLUSIONS
Elevated serum AGEs level is an independent risk factor for postoperative AVF stenosis, and its combination with fibrinogen has a better efficacy for predicting postoperative AVF stenosis.
Humans
;
Glycation End Products, Advanced/blood*
;
Risk Factors
;
Arteriovenous Shunt, Surgical/adverse effects*
;
Kidney Failure, Chronic/blood*
;
Male
;
Constriction, Pathologic/etiology*
;
Female
;
Middle Aged
;
Postoperative Complications/etiology*
;
Renal Dialysis
;
Aged
;
Prospective Studies
;
ROC Curve
;
Adult
4.A myocardial infarction detection and localization model based on multi-scale field residual blocks fusion with modified channel attention.
Qiucen WU ; Xueqi LU ; Yaoqi WEN ; Yong HONG ; Yuliang WU ; Chaomin CHEN
Journal of Southern Medical University 2025;45(8):1777-1790
OBJECTIVES:
We propose a myocardial infarction (MI) detection and localization model for improving the diagnostic accuracy for MI to provide assistance to clinical decision-making.
METHODS:
The proposed model was constructed based on multi-scale field residual blocks fusion modified channel attention (MSF-RB-MCA). The model utilizes lead II electrocardiogram (ECG) signals to detect and localize MI, and extracts different levels of feature information through the multi-scale field residual block. A modified channel attention for automatic adjustment of the feature weights was introduced to enhance the model's ability to focus on the MI region, thereby improving the accuracy of MI detection and localization.
RESULTS:
A 5-fold cross-validation test of the model was performed using the publicly available Physikalisch-Technische Bundesanstalt (PTB) dataset. For MI detection, the model achieved an accuracy of 99.96% on the test set with a specificity of 99.84% and a sensitivity of 99.99%. For MI localization, the accuracy, specificity and sensitivity were 99.81%, 99.98% and 99.65%, respectively. The performances of the model for MI detection and localization were superior to those of other comparison models.
CONCLUSIONS
The proposed MSF-RB-MCA model shows excellent performance in AI detection and localization based on lead II ECG signals, demonstrating its great potential for application in wearable devices.
Myocardial Infarction/diagnosis*
;
Humans
;
Electrocardiography/methods*
;
Signal Processing, Computer-Assisted
;
Algorithms
;
Sensitivity and Specificity
5.Cross-session motor imagery-electroencephalography decoding with Riemannian spatial filtering and domain adaptation.
Lincong PAN ; Xinwei SUN ; Kun WANG ; Yupei CAO ; Minpeng XU ; Dong MING
Journal of Biomedical Engineering 2025;42(2):272-279
Motor imagery (MI) is a mental process that can be recognized by electroencephalography (EEG) without actual movement. It has significant research value and application potential in the field of brain-computer interface (BCI) technology. To address the challenges posed by the non-stationary nature and low signal-to-noise ratio of MI-EEG signals, this study proposed a Riemannian spatial filtering and domain adaptation (RSFDA) method for improving the accuracy and efficiency of cross-session MI-BCI classification tasks. The approach addressed the issue of inconsistent data distribution between source and target domains through a multi-module collaborative framework, which enhanced the generalization capability of cross-session MI-EEG classification models. Comparative experiments were conducted on three public datasets to evaluate RSFDA against eight existing methods in terms of classification accuracy and computational efficiency. The experimental results demonstrated that RSFDA achieved an average classification accuracy of 79.37%, outperforming the state-of-the-art deep learning method Tensor-CSPNet (76.46%) by 2.91% ( P < 0.01). Furthermore, the proposed method showed significantly lower computational costs, requiring only approximately 3 minutes of average training time compared to Tensor-CSPNet's 25 minutes, representing a reduction of 22 minutes. These findings indicate that the RSFDA method demonstrates superior performance in cross-session MI-EEG classification tasks by effectively balancing accuracy and efficiency. However, its applicability in complex transfer learning scenarios remains to be further investigated.
Electroencephalography/methods*
;
Brain-Computer Interfaces
;
Humans
;
Imagination/physiology*
;
Signal Processing, Computer-Assisted
;
Movement/physiology*
;
Signal-To-Noise Ratio
;
Deep Learning
;
Algorithms
6.The diagnostic performance of nuchal translucency alone as a screening test for Down syndrome: A systematic review and meta-analysis.
Ma. Sergia Fatima P. SUCALDITO ; John Jefferson V. BESA ; Lia M. PALILEO-VILLANUEVA
Acta Medica Philippina 2025;59(15):7-23
BACKGROUND
Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.
OBJECTIVETo determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.
METHODSWe performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.
RESULTSWe found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.
CONCLUSIONOur analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.
Human ; Nuchal Translucency Measurement ; Down Syndrome ; Sensitivity And Specificity
7.A machine learning approach for the diagnosis of obstructive sleep apnoea using oximetry, demographic and anthropometric data.
Zhou Hao LEONG ; Shaun Ray Han LOH ; Leong Chai LEOW ; Thun How ONG ; Song Tar TOH
Singapore medical journal 2025;66(4):195-201
INTRODUCTION:
Obstructive sleep apnoea (OSA) is a serious but underdiagnosed condition. Demand for the gold standard diagnostic polysomnogram (PSG) far exceeds its availability. More efficient diagnostic methods are needed, even in tertiary settings. Machine learning (ML) models have strengths in disease prediction and early diagnosis. We explored the use of ML with oximetry, demographic and anthropometric data to diagnose OSA.
METHODS:
A total of 2,996 patients were included for modelling and divided into test and training sets. Seven commonly used supervised learning algorithms were trained with the data. Sensitivity (recall), specificity, positive predictive value (PPV) (precision), negative predictive value, area under the receiver operating characteristic curve (AUC) and F1 measure were reported for each model.
RESULTS:
In the best performing four-class model (neural network model predicting no, mild, moderate or severe OSA), a prediction of moderate and/or severe disease had a combined PPV of 94%; one out of 335 patients had no OSA and 19 had mild OSA. In the best performing two-class model (logistic regression model predicting no-mild vs. moderate-severe OSA), the PPV for moderate-severe OSA was 92%; two out of 350 patients had no OSA and 26 had mild OSA.
CONCLUSION
Our study showed that the prediction of moderate-severe OSA in a tertiary setting with an ML approach is a viable option to facilitate early identification of OSA. Prospective studies with home-based oximeters and analysis of other oximetry variables are the next steps towards formal implementation.
Humans
;
Oximetry/methods*
;
Sleep Apnea, Obstructive/diagnosis*
;
Male
;
Female
;
Middle Aged
;
Machine Learning
;
Polysomnography
;
Adult
;
Anthropometry
;
ROC Curve
;
Aged
;
Algorithms
;
Predictive Value of Tests
;
Sensitivity and Specificity
;
Neural Networks, Computer
;
Demography
8.Deploying artificial intelligence in the detection of adult appendicular and pelvic fractures in the Singapore emergency department after hours: efficacy, cost savings and non-monetary benefits.
John Jian Xian QUEK ; Oliver James NICKALLS ; Bak Siew Steven WONG ; Min On TAN
Singapore medical journal 2025;66(4):202-207
INTRODUCTION:
Radiology plays an integral role in fracture detection in the emergency department (ED). After hours, when there are fewer reporting radiologists, most radiographs are interpreted by ED physicians. A minority of these interpretations may miss diagnoses, which later require the callback of patients for further management. Artificial intelligence (AI) has been viewed as a potential solution to augment the shortage of radiologists after hours. We explored the efficacy of an AI solution in the detection of appendicular and pelvic fractures for adult radiographs performed after hours at a general hospital ED in Singapore, and estimated the potential monetary and non-monetary benefits.
METHODS:
One hundred and fifty anonymised abnormal radiographs were retrospectively collected and fed through an AI fracture detection solution. The radiographs were re-read by two radiologist reviewers and their consensus was established as the reference standard. Cases were stratified based on the concordance between the AI solution and the reviewers' findings. Discordant cases were further analysed based on the nature of the discrepancy into overcall and undercall subgroups. Statistical analysis was performed to evaluate the accuracy, sensitivity and inter-rater reliability of the AI solution.
RESULTS:
Ninety-two examinations were included in the final study radiograph set. The AI solution had a sensitivity of 98.9%, an accuracy of 85.9% and an almost perfect agreement with the reference standard.
CONCLUSION
An AI fracture detection solution has similar sensitivity to human radiologists in the detection of fractures on ED appendicular and pelvic radiographs. Its implementation offers significant potential measurable cost, manpower and time savings.
Humans
;
Singapore
;
Emergency Service, Hospital
;
Fractures, Bone/diagnostic imaging*
;
Artificial Intelligence
;
Retrospective Studies
;
Adult
;
Male
;
Female
;
Cost Savings
;
Middle Aged
;
Pelvic Bones/diagnostic imaging*
;
Reproducibility of Results
;
Aged
;
Sensitivity and Specificity
;
Radiography
9.Use of deep learning model for paediatric elbow radiograph binomial classification: initial experience, performance and lessons learnt.
Mark Bangwei TAN ; Yuezhi Russ CHUA ; Qiao FAN ; Marielle Valerie FORTIER ; Peiqi Pearlly CHANG
Singapore medical journal 2025;66(4):208-214
INTRODUCTION:
In this study, we aimed to compare the performance of a convolutional neural network (CNN)-based deep learning model that was trained on a dataset of normal and abnormal paediatric elbow radiographs with that of paediatric emergency department (ED) physicians on a binomial classification task.
METHODS:
A total of 1,314 paediatric elbow lateral radiographs (patient mean age 8.2 years) were retrospectively retrieved and classified based on annotation as normal or abnormal (with pathology). They were then randomly partitioned to a development set (993 images); first and second tuning (validation) sets (109 and 100 images, respectively); and a test set (112 images). An artificial intelligence (AI) model was trained on the development set using the EfficientNet B1 network architecture. Its performance on the test set was compared to that of five physicians (inter-rater agreement: fair). Performance of the AI model and the physician group was tested using McNemar test.
RESULTS:
The accuracy of the AI model on the test set was 80.4% (95% confidence interval [CI] 71.8%-87.3%), and the area under the receiver operating characteristic curve (AUROC) was 0.872 (95% CI 0.831-0.947). The performance of the AI model vs. the physician group on the test set was: sensitivity 79.0% (95% CI: 68.4%-89.5%) vs. 64.9% (95% CI: 52.5%-77.3%; P = 0.088); and specificity 81.8% (95% CI: 71.6%-92.0%) vs. 87.3% (95% CI: 78.5%-96.1%; P = 0.439).
CONCLUSION
The AI model showed good AUROC values and higher sensitivity, with the P-value at nominal significance when compared to the clinician group.
Humans
;
Deep Learning
;
Child
;
Retrospective Studies
;
Male
;
Female
;
Radiography/methods*
;
ROC Curve
;
Elbow/diagnostic imaging*
;
Neural Networks, Computer
;
Child, Preschool
;
Elbow Joint/diagnostic imaging*
;
Emergency Service, Hospital
;
Adolescent
;
Infant
;
Artificial Intelligence
10.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


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