1.Development and validation of PhenoRAG: A visualization tool for automated human phenotype ontology term annotation based on large language models and retrieval-augmented generation technology.
Wei ZHONG ; Yousheng YAN ; Kai YANG ; Yan LIU ; Xinyu FU ; Zhengyang YAO ; Chenghong YIN
Chinese Journal of Medical Genetics 2026;43(1):36-43
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
2.Research on software development and smart manufacturing platform incorporating near-infrared spectroscopy for measuring traditional Chinese medicine manufacturing process.
Yan-Fei WU ; Hui XU ; Kai-Yi WANG ; Hui-Min FENG ; Xiao-Yi LIU ; Nan LI ; Zhi-Jian ZHONG ; Ze-Xiu ZHANG ; Zhi-Sheng WU
China Journal of Chinese Materia Medica 2025;50(9):2324-2333
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
3.Effects of total extract of Anthriscus sylvestris on immune inflammation and thrombosis in rats with pulmonary arterial hypertension based on TGF-β1/Smad3 signaling pathway.
Ya-Juan ZHENG ; Pei-Pei YUAN ; Zhen-Kai ZHANG ; Yan-Ling LIU ; Sai-Fei LI ; Yuan RUAN ; Yi CHEN ; Yang FU ; Wei-Sheng FENG ; Xiao-Ke ZHENG
China Journal of Chinese Materia Medica 2025;50(9):2472-2483
This study aimed to explore the effects and mechanisms of total extracts from Anthriscus sylvestris on pulmonary hypertension in rats. Sixty male SD rats were divided into normal(NC) group, model(M) group, positive drug sildenafil(Y) group, low-dose A. sylvestris(ES-L) group, medium-dose A. sylvestris(ES-M) group, and high-dose A. sylvestris(ES-H) group. On day 1, rats were intraperitoneally injected with monocrotaline(60 mg·kg~(-1)) to induce pulmonary hypertension, and the rat model was established on day 28. From days 15 to 28, intragastric administration of the respective treatments was performed. After modeling and treatment, small animal echocardiography was used to detect the right heart function of the rats. Arterial blood gas was measured using a blood gas analyzer. Hematoxylin and eosin(HE) staining and Masson staining were performed to observe cardiopulmonary pathological damage. Flow cytometry was used to detect apoptosis in the lung and myocardial tissues and reactive oxygen species(ROS) levels. Western blot was applied to detect the expression levels of transforming growth factor-β1(TGF-β1), phosphorylated mothers against decapentaplegic homolog 3(p-Smad3), Smad3, tissue plasminogen activator(t-PA), and plasminogen activator inhibitor-1(PAI-1) in lung tissue. A blood routine analyzer was used to measure inflammatory immune cell levels in the blood. Enzyme-linked immunosorbent assay(ELISA) was used to detect the expression levels of P-selectin and thromboxane A2(TXA2) in plasma. The results showed that, compared with the NC group, right heart hypertrophy index, right ventricular free wall thickness, right heart internal diameter, partial carbon dioxide pressure(PaCO_2), apoptosis in cardiopulmonary tissue, and ROS levels were significantly increased in the M group. In contrast, the ratio of pulmonary blood flow acceleration time(PAT)/ejection time(PET), right cardiac output, change rate of right ventricular systolic area, systolic displacement of the tricuspid ring, oxygen partial pressure(PaO_2), and blood oxygen saturation(SaO_2) were significantly decreased in the M group. After administration of the total extract of A. sylvestris, right heart function and blood gas levels were significantly improved, while apoptosis in cardiopulmonary tissue and ROS levels significantly decreased. Further testing revealed that the total extract of A. sylvestris significantly decreased the levels of interleukin-1β(IL-1β), interleukin-6(IL-6), and PAI-1 proteins in lung tissue, while increasing the expression of t-PA. Additionally, the extract reduced the levels of inflammatory cells such as leukocytes, lymphocytes, granulocytes, and monocytes in the blood, as well as the levels of P-selectin and TXA2 in plasma. Metabolomics results showed that the total extract of A. sylvestris significantly affected metabolic pathways, including arginine biosynthesis, tyrosine metabolism, and taurine and hypotaurine metabolism. In conclusion, the total extract of A. sylvestris may exert an anti-pulmonary hypertension effect by inhibiting the TGF-β1/Smad3 signaling pathway, thereby alleviating immune-inflammatory responses and thrombosis.
Animals
;
Male
;
Smad3 Protein/metabolism*
;
Transforming Growth Factor beta1/metabolism*
;
Rats, Sprague-Dawley
;
Rats
;
Signal Transduction/drug effects*
;
Hypertension, Pulmonary/genetics*
;
Thrombosis/immunology*
;
Drugs, Chinese Herbal/administration & dosage*
;
Humans
;
Apoptosis/drug effects*
4.Clinical efficacy of minimally invasive tendon blade technique in the treatment of moderate and severe gluteal muscle contracture.
Jia-Kai GAO ; Tao-Ran WANG ; Long BI ; Xiao-Chao CHEN ; Yan-Wu LIU ; Yao-Ping WU ; Xiang HE ; Zhi-Xia NIU
China Journal of Orthopaedics and Traumatology 2025;38(4):420-423
OBJECTIVE:
To investigate the clinical effect of minimally invasive technique in the treatment of moderate and severe gluteal muscle contracture.
METHODS:
A retrospective study was conducted on 85 patients (170 sides) with bilateral gluteal muscle contracture admitted from January 2016 to December 2019. All patients were treated with minimally invasive release of tendon knife. There were 32 males and 53 females, ranging in age from 15 to 37 years old, with an average age of (22.3±6.3) years old. Operation time, intraoperative blood loss, incision length, first postoperative ambulation time, complication rate, recurrence rate, and Harris hip score (HHS) were analyzed and evaluated.
RESULTS:
The average follow-up time was (16.2±4.6) months, ranging from 12 to 30 months. The operation time ranged from 7 to 15 min, with an average of (10.2±3.1) min. Intraoperative blood loss ranged from 2 to 20 ml, with an average of (8.4±2.2) ml. The incision length ranged from 0.6 to 2.0 cm, with an average of (0.8±0.3) cm. The time to postoperative ambulation ranged from 12 to 28 h, with an average of (20.0±3.2) h. All patients achieved primary wound healing without sciatic nerve injury or recurrence. HHS hip function scores ranged from 90 to 98, with an average score of (96.2±1.4). Complications included intraoperative tendon blade tip fracture in two cases (removed under fluoroscopic guidance) and subcutaneous hematoma in three cases-two resolved with compression and one with open evacuation.. Twenty-nine patients exhibited transient swaying gait postoperatively, of which 24 patients returned to normal after 4 weeks and 5 patients returned to normal after 6 weeks.
CONCLUSION
Minimally invasive tendon blade release is a safe and effective technique for treating gluteal muscle contracture, offering minimal trauma, rapid recovery, and excellent cosmetic and functional outcomes. However, it exhibits a low risk of blade tip fracture and sciatic nerve injury, warranting experienced surgical handling.
Humans
;
Male
;
Female
;
Adult
;
Minimally Invasive Surgical Procedures/methods*
;
Adolescent
;
Retrospective Studies
;
Buttocks/surgery*
;
Young Adult
;
Contracture/surgery*
;
Tendons/surgery*
;
Muscle, Skeletal/surgery*
5.Prognostic value of serum CD4+ and NK cells for the treatment response in children with aplastic anemia.
Chun-Can WU ; Mei YAN ; Hailiguli NURIDDIN ; Xu-Kai MA ; Yu LIU
Chinese Journal of Contemporary Pediatrics 2025;27(6):690-695
OBJECTIVES:
To evaluate the clinical value of CD4⁺ cell percentage (CD4⁺%) and NK cell percentage (NK%) in predicting treatment outcomes in children with aplastic anemia (AA), providing a reference for precise diagnosis and treatment.
METHODS:
This retrospective study analyzed the clinical data of AA children treated with cyclosporine A at the First Affiliated Hospital of Xinjiang Medical University from January 2019 to April 2024. The study involved 48 AA children as the observation group and 50 children undergoing medical check-ups during the same period as the control group. Lymphocyte subset data were collected from both groups to analyze differences and their relationship with treatment efficacy. Based on hematological responses, the observation group was divided into an effective group of 18 patients (HR group, including complete and partial remission) and an ineffective group of 30 patients (NHR group, including non-remission).
RESULTS:
Univariate analysis showed that NK% in the observation group was significantly lower than that in the control group (P<0.05). The observation group was followed up for 3 months. The HR group had a lower CD4⁺% than the NHR group (P=0.018) and a higher NK% than the NHR group (P=0.029). Multivariate logistic regression analysis indicated that a high CD4⁺% was a risk factor for poor treatment efficacy (OR=1.062), whereas a high NK% was a protective factor (OR=0.820). The area under the curve for the prediction of HR in pediatric AA by combining CD4⁺% and NK% was 0.812.
CONCLUSIONS
A higher CD4⁺% at diagnosis is a predictor of poor treatment response, whereas a higher NK% is associated with better outcomes.
Humans
;
Anemia, Aplastic/blood*
;
Male
;
Female
;
Killer Cells, Natural
;
Child
;
Retrospective Studies
;
Child, Preschool
;
Prognosis
;
Adolescent
;
CD4-Positive T-Lymphocytes
;
Infant
6.Clinical Effects of Pomalidomide-Based Regimen in the Treatment of Relapsed and Refractory Multiple Myeloma.
Man YANG ; Yan HUANG ; Ling-Xiu ZHANG ; Guo-Qing LYU ; Lu-Yao ZHU ; Xian-Kai LIU ; Yan GUO
Journal of Experimental Hematology 2025;33(2):431-436
OBJECTIVE:
To study the clinical effects of pomalidomide-based regimen in the treatment of relapsed and refractory multiple myeloma (RRMM).
METHODS:
60 patients with RRMM in hematology department of the First Affiliated Hospital of Xinxiang Medical University from November 2020 to January 2023 were selected. Among them, 15 cases were treated with PDD regimen (pomalidomide + daratumumab + dexamethasone), and 45 cases were treated with PCD regimen (pomalidomide + cyclophosphamide + dexamethasone). The clinical effects were evaluated.
RESULTS:
The median number of treatment cycles for the entire cohort was 5 (2-11), with an overall response rate (ORR) of 75.0%. The ORR of patients treated with PDD regimen was 73.3%, while the ORR of patients treated with PCD regimen was 75.6%. The ORR of 46 patients with non high-risk cytogenetic abnormalities (non-HRCA) was 86.9%, significantly higher than the 35.7% of 14 patients with HRCA (χ2 =15.031, P < 0.05). The median PFS for all patients was 8.0(95%CI : 6.8-9.1) months and the median OS was 14.0 (95%CI : 11.3-16.7) months. Among patients treated with PDD regimen, the PFS and OS of patients with non-HRCA were significantly higher than those of patients with HRCA [PFS: 7.0(95%CI : 4.6-9.3) months vs 4.0(95%CI : 3.1-4.8) months, χ2 =5.120, P < 0.05; OS: not reached vs 6.0(95%CI : 1.1-10.9) months, χ2 =9.870, P < 0.05]. Among patients treated with PCD regimen, the PFS and OS of patients with non-HRCA were significantly higher than those of patients with HRCA [PFS: 9.0(95%CI : 6.2-11.8) months vs 6.0(95%CI : 5.4-6.6) months, χ2=14.396, P < 0.05; OS: not reached vs 11.0(95%CI : 6.4-15.6) months, χ2 =7.471, P < 0.05].
CONCLUSION
The pomalidomide-based regimen has a good clinical effect and safety in the treatment of RRMM.
Humans
;
Multiple Myeloma/drug therapy*
;
Thalidomide/administration & dosage*
;
Dexamethasone/therapeutic use*
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
;
Female
;
Male
;
Middle Aged
;
Recurrence
;
Aged
;
Cyclophosphamide/therapeutic use*
;
Treatment Outcome
;
Antibodies, Monoclonal
7.Artificial intelligence in traditional Chinese medicine: from systems biological mechanism discovery, real-world clinical evidence inference to personalized clinical decision support.
Dengying YAN ; Qiguang ZHENG ; Kai CHANG ; Rui HUA ; Yiming LIU ; Jingyan XUE ; Zixin SHU ; Yunhui HU ; Pengcheng YANG ; Yu WEI ; Jidong LANG ; Haibin YU ; Xiaodong LI ; Runshun ZHANG ; Wenjia WANG ; Baoyan LIU ; Xuezhong ZHOU
Chinese Journal of Natural Medicines (English Ed.) 2025;23(11):1310-1328
Traditional Chinese medicine (TCM) represents a paradigmatic approach to personalized medicine, developed through the systematic accumulation and refinement of clinical empirical data over more than 2000 years, and now encompasses large-scale electronic medical records (EMR) and experimental molecular data. Artificial intelligence (AI) has demonstrated its utility in medicine through the development of various expert systems (e.g., MYCIN) since the 1970s. With the emergence of deep learning and large language models (LLMs), AI's potential in medicine shows considerable promise. Consequently, the integration of AI and TCM from both clinical and scientific perspectives presents a fundamental and promising research direction. This survey provides an insightful overview of TCM AI research, summarizing related research tasks from three perspectives: systems-level biological mechanism elucidation, real-world clinical evidence inference, and personalized clinical decision support. The review highlights representative AI methodologies alongside their applications in both TCM scientific inquiry and clinical practice. To critically assess the current state of the field, this work identifies major challenges and opportunities that constrain the development of robust research capabilities-particularly in the mechanistic understanding of TCM syndromes and herbal formulations, novel drug discovery, and the delivery of high-quality, patient-centered clinical care. The findings underscore that future advancements in AI-driven TCM research will rely on the development of high-quality, large-scale data repositories; the construction of comprehensive and domain-specific knowledge graphs (KGs); deeper insights into the biological mechanisms underpinning clinical efficacy; rigorous causal inference frameworks; and intelligent, personalized decision support systems.
Medicine, Chinese Traditional/methods*
;
Artificial Intelligence
;
Humans
;
Precision Medicine
;
Decision Support Systems, Clinical
8.Jiawei Xiaoyao Pills improves depression-like behavior in rats by regulating neurotransmitters, inhibiting inflammation and oxidation and modulating intestinal flora.
Ying LIU ; Borui LI ; Yongcai LI ; Lubo CHANG ; Jiao WANG ; Lin YANG ; Yonggang YAN ; Kai QV ; Jiping LIU ; Gang ZHANG ; Xia SHEN
Journal of Southern Medical University 2025;45(2):347-358
OBJECTIVES:
To explore the bioactive components in Jiawei Xiaoyao Pills (JWXYP) and their mechanisms for alleviating depression-like behaviors.
METHODS:
The active compounds, key targets, and pathways of JWXYP were identified using TCMSP and TCMIP databases. Thirty-six SD rats were randomized equally into 6 groups including a control group and 5 chronic unpredictable mild stress (CUMS)-induced depression groups. After modeling, the 5 model groups were treated with daily gavage of normal saline, 1.8 mg/kg fluoxetine hydrochloride (positive control drug), or JWXYP at 1.44, 2.88, and 4.32 g/kg. The depression-like behaviors of the rats were evaluated using behavioral tests, and pathological changes in the liver and hippocampus were examined with HE staining. The biochemical indicators in the serum and brain tissues were detected using ELISA. Serum metabolomics analysis was performed to identify the differential metabolites using OPLS-DA, and gut microbiota changes were analyzed using 16S rDNA sequencing.
RESULTS:
Network pharmacology revealed that menthone and paeonol in JWXYP were capable of penetrating the blood-brain barrier to regulate inflammatory pathways and protect the nervous system. In the rat models subjected to CUMS, treatment with JWXYP significantly improved body weight loss, sucrose preference and open field activities, reduced liver inflammation, alleviated structural changes in the hippocampal neurons, decreased serum levels of TNF‑α, IL-1β, IL-6 and LBP, and increased 5-HT and VIP concentrations in the serum and brain tissue, and these effects were the most pronounced in the high-dose group. Metabolomics analysis showed changes in such metabolites as indole-3-acetamide and acetyl-L-carnitine in JWXYP-treated rats, involving the pathways for bile acid biosynthesis and amino acid metabolism. 16S rDNA analysis demonstrated increased gut microbiota diversity and increased abundance of Lactobacillus species in JWXYP-treated rats.
CONCLUSIONS
JWXYP alleviates depression-like symptoms in rats by regulating the neurotransmitters, inhibiting inflammation and oxidation, and modulating gut microbiota.
Animals
;
Drugs, Chinese Herbal/therapeutic use*
;
Gastrointestinal Microbiome/drug effects*
;
Rats, Sprague-Dawley
;
Depression/drug therapy*
;
Neurotransmitter Agents/metabolism*
;
Rats
;
Inflammation
;
Male
;
Hippocampus
;
Behavior, Animal/drug effects*
9.Comparison of local debridement versus En bloc osteotomy for chronic osteomyelitis of the tibia
Changzheng YAN ; Dongxu TANG ; Hao SONG ; Yanfei LUO ; Kai CHEN ; Liu YANG ; Jiang DENG ; Shiqiang RUAN
The Journal of Practical Medicine 2025;41(23):3645-3651
Objective To compare of the efficacy of two distinct debridement techniques in membrane induction therapy for chronic tibial osteomyelitis.Methods A retrospective study was conducted on 52 patients with Cierny-Mader type IV A/B chronic tibial osteomyelitis who were treated at the Third Affiliated Hospital of Zunyi Medical University between July 2016 and December 2023.Five patients were diagnosed and treated before 2020,while 47 were managed from 2020 onward.Patients were divided into two groups:a local debridement group(n=28)and an en bloc osteotomy group(n=24).Perioperative outcomes—including operative time,incision length,intraoperative blood loss,and length of hospital stay—were assessed,along with clinical efficacy at 6 months,12 months,and final follow-up.Clinical outcomes were evaluated using the Hospital for Special Surgery(HSS)knee score,the American Orthopaedic Foot&Ankle Society(AOFAS)ankle-hindfoot score,joint range of motion(knee flexion-extension and ankle plantarflexion-dorsiflexion),recurrence rate,and the Paley classification for infectious bone defects.Results The local debridement group exhibited significantly less intraoperative blood loss(P<0.05),shorter operative time(P<0.05),and reduced hospital stay(P<0.05),as well as higher AOFAS and HSS scores at both 6 and 12 months postoperatively(P<0.05).In contrast,the osteotomy group demonstrated superior Paley classification outcomes at 6 months,12 months,and final follow-up(P<0.05),along with lower rates of infection recurrence.Longitudinal analysis indicated significant improvements in AOFAS scores,HSS scores,and joint mobility over time in both groups(P<0.05).However,no statistically significant differences were observed between groups in terms of functional scores or joint mobility parameters at final follow-up(P>0.05).Conclusion En bloc osteotomy combined with the induced membrane technique(Masquelet technique)enables more comprehensive debridement,minimizes the necessity for repeated surgical interventions,reduces postoperative complications,lowers the risk of recurrence,and promotes enhanced bone healing.
10.Latent profile analysis and influencing factors of body image among patients with head and neck cancer
Ping XU ; Rong YAN ; Miaomiao ZHANG ; Wenhui LIU ; Kai JIANG
Chinese Journal of Nursing 2025;60(2):215-222
Objective To explore the potential profile of body image and its influencing factors among head and neck cancer patients.Methods Convenience sampling was employed to investigate 335 head and neck cancer patients in a tertiary hospital in Shandong Province from October 2023 to May 2024.Data was collected using the patient's general information questionnaire,Body Image Scale,Medical Coping Modes Questionnaire,Perceived Social Support Scale,Comprehensive Score for Financial Toxicity based on the Patient-Reported Outcome Measures.Latent profile analysis and multivariate Logistic regression analysis were used to explore distinct profiles and influencing factor of body image in head and neck patients.Results A total of 335 valid questionnaires were collected in this study,and 95.4%of the valid questionnaires were included.Body image of patients with head and neck cancer could be divided into 3 latent profiles:body emotional stability(41.5%),body cognitive dissatisfaction(33.7%)and social behavior avoidance(24.8%).Age,location of cancer onset,stage of cancer,surgical treatment,medical coping style(facing coping,yielding coping),social support and economic toxicity were the factors influencing the latent profiles of body image in patients with head and neck cancer(P<0.05).Conclusion There is heterogeneity in body image of patients with head and neck cancer.Medical staff should implement targeted management strategies based on the influencing factors of different profiles to reduce the body image disorders in patients with head and neck cancer,and to promote patients to better return to society.

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