OBJECTIVE: To develop a user-friendly visualization application for the automatic annotation of Human Phenotype Ontology (HPO) terms based on large language models and retrieval-augmented generation (RAG) technology, and to validate its performance in an authoritative case dataset. METHODS: By integrating the domestic open-source large language model DeepSeek-V3 with RAG technology, an interactive web application was deployed on the Streamlit cloud platform. Using only the latest official HPO dataset as the data source, the lightweight sentence-embedding model BAAI/bge-small-en-v1.5 was employed to construct a FAISS vector index. During the online phase, a four-step closed-loop process is automatically completed: multilingual translation, phenotype phrase extraction, RAG candidate retrieval, term mapping, and official database validation. 121 English case reports publicly released by BMJ Case Reports and Oxford Medical Case Reports (with a gold-standard HPO set of 1 794 terms) were selected for application validation. Precision, recall, and F1 score were calculated and compared horizontally with traditional dictionary tools, standalone large language models, and the similar application "RAG-HPO". Finally, replace the model with the more advanced ChatGPT-5 and evaluate its performance on the newly extracted dataset. RESULTS: An HPO term automatic annotation visualization application named PhenoRAG, based on large language models and RAG technology, was successfully developed. Users can access it directly via a web link. Across the 112 cases, a total of 2 150 HPO terms were generated; 2,064 (96.0%) were fully validated by the official database, with a hallucination rate of 1.3% and an HPO ID-name mismatch rate of 2.7%. After deduplication, 1,906 terms remained for testing. The overall precision was 63.65%, recall was 67.34%, and F1 was 65.44%, significantly outperforming traditional annotation tools (F1: 0.45-0.49, P < 0.001). Although PhenoRAG's F1 was lower than that of RAG-HPO (F1 = 0.78, P < 0.001), which relies on a manually constructed synonym database of 54 000 entries plus the HPO dataset, it requires no additional dictionary maintenance and can be used without any background in computer programming. Moreover, after switching to the GPT-5 model, PhenoRAG exhibited no hallucination rate on the new dataset, and its F1 score significantly increased (P = 0.038). CONCLUSION Without constructing a synonym database, the PhenoRAG achieved high-accuracy automatic mapping from clinical text to standard HPO terms. It features a low usage threshold, free access, and a Chinese-language interface, and can directly serve rare disease diagnosis, genetic counseling, and research scenarios in China and worldwide, warranting further clinical promotion and multicenter validation.
Humans ; Phenotype ; Biological Ontologies ; Language ; Software ; Large Language Models

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

INTRODUCTION: Interpretation and analysis of magnetic resonance imaging (MRI) scans in clinical settings comprise time-consuming visual ratings and complex neuroimage processing that require trained professionals. To combat these challenges, artificial intelligence (AI) techniques can aid clinicians in interpreting brain MRI for accurate diagnosis of neurodegenerative diseases but they require extensive validation. Thus, the aim of this study was to validate the use of AI-based AQUA (Neurophet Inc., Seoul, Republic of Korea) segmentation software in a Southeast Asian community-based cohort with normal cognition, mild cognitive impairment (MCI) and dementia. METHOD: Study participants belonged to the community-based Biomarker and Cognition Study in Singapore. Participants aged between 30 and 95 years, having cognitive concerns, with no diagnosis of major psychiatric, neurological or systemic disorders who were recruited consecutively between April 2022 and July 2023 were included. Participants underwent neuropsychological assessments and structural MRI, and were classified as cognitively normal, with MCI or with dementia. MRI pre-processing using automated pipelines, along with human-based visual ratings, were compared against AI-based automated AQUA output. Default mode network grey matter (GM) volumes were compared between cognitively normal, MCI and dementia groups. RESULTS: A total of 90 participants (mean age at visit was 63.32±10.96 years) were included in the study (30 cognitively normal, 40 MCI and 20 dementia). Non-parametric Spearman correlation analysis indicated that AQUA-based and human-based visual ratings were correlated with total (ρ=0.66; P<0.0001), periventricular (ρ=0.50; P<0.0001) and deep (ρ=0.57; P<0.0001) white matter hyperintensities (WMH). Additionally, volumetric WMH obtained from AQUA and automated pipelines was also strongly correlated (ρ=0.84; P<0.0001) and these correlations remained after controlling for age at visit, sex and diagnosis. Linear regression analyses illustrated significantly different AQUA-derived default mode network GM volumes between cognitively normal, MCI and dementia groups. Dementia participants had significant atrophy in the posterior cingulate cortex compared to cognitively normal participants (P=0.021; 95% confidence interval [CI] -1.25 to -0.08) and in the hippocampus compared to cognitively normal (P=0.0049; 95% CI -1.05 to -0.16) and MCI participants (P=0.0036; 95% CI -1.02 to -0.17). CONCLUSION Our findings demonstrate high concordance between human-based visual ratings and AQUA-based ratings of WMH. Additionally, the AQUA GM segmentation pipeline showed good differentiation in key regions between cognitively normal, MCI and dementia participants. Based on these findings, the automated AQUA software could aid clinicians in examining MRI scans of patients with cognitive impairment.
Humans ; Cognitive Dysfunction/pathology* ; Magnetic Resonance Imaging/methods* ; Male ; Middle Aged ; Female ; Aged ; Artificial Intelligence ; Software ; Dementia/diagnostic imaging* ; Aged, 80 and over ; Adult ; Singapore ; Neuropsychological Tests ; Brain/pathology* ; Cohort Studies ; Gray Matter/pathology* ; Southeast Asian People

Process analytical technology(PAT) is a key means for digital transformation and upgrading of the traditional Chinese medicine(TCM) manufacturing process, serving as an important guarantee for consistent and controllable TCM product quality. Near-infrared(NIR) spectroscopy has become the core technology for measuring the TCM manufacturing process. By incorporating NIR spectroscopy into PAT and starting from the construction of a smart platform for the TCM manufacturing process, this paper systematically described the development history and innovative application of the combination of NIR spectroscopy with chemometrics in measuring the TCM manufacturing process by the research team over the past two decades. Additionally, it explored the application of a validation method based on accuracy profile(AP) in the practice of NIR spectroscopy. Furthermore, the software development progress driven by NIR spectroscopy supported by modeling technology was analyzed, and the prospect of integrating NIR spectroscopy in smart factory control platforms was exemplified with the construction practices of related platforms. By integrating with the smart platform, NIR spectroscopy could improve production efficiency and guarantee product quality. Finally, the prospect of the smart platform application in measuring the TCM manufacturing process was projected. It is believed that the software development for NIR spectroscopy and the smart manufacturing platform will provide strong technical support for TCM digitalization and industrialization.
Spectroscopy, Near-Infrared/methods* ; Drugs, Chinese Herbal/analysis* ; Software ; Medicine, Chinese Traditional ; Quality Control

This paper realized a portable brain-computer interface (BCI) system tailored for smart healthcare. Through the decoding of steady-state visual evoked potential (SSVEP), this system can rapidly and accurately identify the intentions of subjects, thereby meeting the practical demands of daily medical scenarios. Firstly, an SSVEP stimulation interface and an electroencephalogram (EEG) signal acquisition software were designed, which enable the system to execute multi-target and multi-task operations while also incorporating data visualization functionality. Secondly, the EEG signals recorded from the occipital region were decomposed into eight sub-frequency bands using filter bank canonical correlation analysis (FBCCA). Subsequently, the similarity between each sub-band signal and the reference signals was computed to achieve efficient SSVEP decoding. Finally, 15 subjects were recruited to participate in the online evaluation of the system. The experimental results indicated that in real-world scenarios, the system achieved an average accuracy of 85.19% in identifying the intentions of the subjects, and an information transfer rate (ITR) of 37.52 bit/min. This system was awarded third prize in the Visual BCI Innovation Application Development competition at the 2024 World Robot Contest, validating its effectiveness. In conclusion, this study has developed a portable, multifunctional SSVEP online decoding system, providing an effective approach for human-computer interaction in smart healthcare.
Brain-Computer Interfaces ; Humans ; Evoked Potentials, Visual/physiology* ; Electroencephalography ; Signal Processing, Computer-Assisted ; Software ; Adult ; Male

OBJECTIVE: To explore the accuracy of human-computer interaction software in identifying and locating type C1 distal radius fractures. METHODS: Based on relevant inclusion and exclusion criteria, 14 cases of type C1 distal radius fractures between September 2023 and March 2024 were retrospectively analyzed, comprising 3 males and 11 females(aged from 27 to 82 years). The data were assigned randomized identifiers. A senior orthopedic physician reviewed the films and measured the ulnar deviation angle, radial height, palmar inclination angle, intra-articular step, and intra-articular gap for each case on the hospital's imaging system. Based on the reduction standard for distal radius fractures, cases were divided into reduction group and non-reduction group. Then, the data were sequentially imported into a human-computer interaction intelligent software, where a junior orthopedic physician analyzed the same radiological parameters, categorized cases, and measured fracture details. The categorization results from the software were consistent with manual classifications (6 reduction cases and 8 non-reduction cases). For non-reduction cases, the software performed further analyses, including bone segmentation and fracture recognition, generating 8 diagnostic reports containing fracture recognition information. For the 6 reduction cases, the senior and junior orthopedic physicians independently analyzed the data on the hospital's imaging system and the AI software, respectively. Bone segments requiring reduction were identified, verified by two senior physicians, and measured for displacement and rotation along the X (inward and outward), Z (front and back), and Y (up and down) axes. The AI software generated comprehensive diagnostic reports for these cases, which included all measurements and fracture recognition details. RESULTS: Both the manual and AI software methods consistently categorized the 14 cases into 6 reduction and 8 non-reduction groups, with identical data distributions. A paired sample t-test revealed no statistically significant differences (P>0.05) between the manual and software-based measurements for ulnar deviation angle, radial ulnar bone height, palmar inclination angle, intra-articular step, and joint space. In fracture recognition, the AI software correctly identified 10 C-type fractures and 4 B-type fractures. For the 6 reduction cases, a total of 24 bone fragments were analyzed across both methods. After verification, it was found that the bone fragments identified by the two methods were consistent. A paired sample t-tests revealed that the identified bone fragments and measured displacement and rotation angles along the X, Y, and Z axes were consistent between the two methods. No statistically significant differences(P>0.05) were found between manual and software measurements for these parameters. CONCLUSION Human-computer interaction software employing AI technology demonstrated comparable accuracy to manual measurement in identifying and locating type C1 distal radius fractures on CT imaging.
Humans ; Male ; Female ; Radius Fractures/surgery* ; Middle Aged ; Adult ; Aged ; Aged, 80 and over ; Tomography, X-Ray Computed/methods* ; Retrospective Studies ; Software ; Wrist Fractures

OpenSim is an open source, free motion simulation and gait analysis software, which can be used to dynamically simulate and analyze the complex motion of the human body, and is widely used in human biomechanical research. Since OpenSim can analyze multi-dimensional motion data such as muscle strength, joint torque, and muscle synergistic activation during human movement, it can be used to study the biomechanical mechanism of musculoskeletal imbalance diseases and various treatment methods in TCM orthopedics, and has a broad application prospect in the field of TCM orthopedics. By the analysis of the basic characteristics, elements, analysis process, and application prospects of OpenSim, it is concluded that OpenSim musculoskeletal model has a large application space in the field of traditional Chinese medicine orthopedic, which is helpful to explain the pathogenesis and mechanism of diseases, and promote the precision diagnosis and treatment of orthopedics diseases;the application of OpenSim musculoskeletal model can solve the problem that the previous research paid attention to the bone malalignment and not enough attention to the tendon, and provide a new method for the research of orthopedic diseases. At present, there are still problems in the promotion and application of OpenSim, such as large equipment requirements and high operation threshold. Therefore, multidisciplinary cooperation, clinical research, and data sharing are the basic research strategies in this field.
Humans ; Biomechanical Phenomena ; Orthopedics ; Traumatology ; Software ; Medicine, Chinese Traditional ; Musculoskeletal System ; Models, Biological

OBJECTIVE: This study aims to address the configuration and efficiency issues in the use of digital subtraction angiography (DSA) equipment through the practical implementation of a rationalization platform based on the Internet of Things (IoT). METHODS: By employing IoT and data integration technologies, the deep integration of DSA equipment operational data with clinical data was achieved to construct a knowledge base for rational use of DSA equipment. Simultaneously, a knowledge base was developed using software engineering techniques to visually display data analysis results. RESULTS: Through thorough data analysis, an imbalance in DSA usage between the southern and northern hospital campuses was identified. Addressing this issue, optimizations were implemented based on the data analysis results, which ultimately yielded significant effects. These adjustments not only effectively alleviated the pressure on DSA equipment usage in the southern campus, but also increased equipment utilization in the northern district (the average daily working hours have increased from 4.64 h to 7.19 h), shortened patient appointment wait time (the appointment duration in the southern campus decreased by 21.86% year-on-year, while the appointment duration in the northern campus decreased by 20.51% year-on-year). CONCLUSION Through the practical implementation of a DSA rationalization platform based on IoT, this study not only successfully explored methods for rational DSA usage but also provided valuable reference for the rational management of medical equipment.
Internet of Things ; Angiography, Digital Subtraction/instrumentation* ; Humans ; Software

In order to track the running status of the accelerator in real time, discover potential problems in time, reduce the failure rate, and ensure the safety of radiotherapy patients, a linear accelerator quality management monitoring system is designed based on log files. The system adopts B/S architecture, with the server written in Python3.7 language, and is built based on Django2.2.7 framework. The system uses Python3.7 and Pylinac packages to analyze the log files of each plan, obtaining the planned beam quantity, flux gamma pass rate, and position information of multileaf collimator, etc., to realize the quality monitoring of medical linear accelerator, and customize the development of accelerator spare parts and maintenance management modules. According to statistics, after the establishment of the quality management monitoring system, the accelerator has achieved a 16% reduction in failure rate and a 30% reduction in the downtime rate, which ensures its stable operation in clinical settings.
Particle Accelerators ; Quality Control ; Software

From the perspective of performance evaluation, this paper describes briefly the concerns of study on each component module and the entire instrument, clinical items, software, and product testing on droplet digital PCR instruments, including the study methods and quality control requirements. The increase of the research and development efficiency of products and contribute to the promotion of application of digital PCR instruments in clinical laboratories are expected.
Polymerase Chain Reaction/methods* ; Quality Control ; Software ; Humans