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 pathogenesis and prognostic factors of liposarcoma in the head and neck region, and simultaneously analyze the efficacy of different treatment regimens. Methods A retrospective analysis was performed on all patients with primary untreated head and neck liposarcoma who were diagnosed and underwent surgical treatment at our hospital from January 2008 to January 2024. All patients were monitored during follow-up, and their prognoses were analyzed using SPSS software. Results A total of 30 patients were included in the study. Liposarcoma accounted for up to 60% of the cases in the orbit, while the remaining liposarcomas were primarily located in various interspaces of the neck. Dedifferentiated liposarcoma was the most common type, comprising 33%, while myxoid pleomorphic liposarcoma was the rarest at 4%. The tumor pathological type (P<0.001) and Ki67 (P=0.014) significantly affected the tumor control rate. However, an analysis of disease-specific survival rates revealed no significant differences across various factors (all P>0.05). Conclusion The prognosis of head and neck liposarcoma is better compared to that of liposarcomas in other parts of the body. However, myxoid pleomorphic liposarcoma, pleomorphic fat sarcoma, and high Ki67 levels are indicators of poor prognosis. Additionally, postoperative adjuvant radiotherapy does not significantly enhance disease-specific survival rates.

Objective: To explore the network structure of dietary intake and physical fitness subtypes among junior and senior high school students, so as to provide precise and efficient intervention guidance for improving abnormal physical health issues in adolescents. Methods: Based on the 2020-2021 Database of Youth Health (DYH), a total of 9 730 junior and senior high school students in Shandong Province were included for analysis. Dietary intake was assessed using a modified Chinese Dietary Quality Questionnaire, and physical fitness was evaluated according to the "2014 National Student Physical Fitness Standard". The Kmeans clustering algorithm was employed to identify potential subtypes of physical fitness in junior and high school students. Network analysis was used to construct a network linking dietary intake and physical fitness symptoms and to identify clusters of dietary behaviors and physical fitness symptoms among adolescents of different genders. Results: The physical fitness among junior and senior high school students of different genders were categorized into two subtypes: the baseline steady type (3 427 male students, 4 039 female students) and the morphological deviation type (1 294 male students, 970 female students). Statistically significant differences were observed in network strength and network connectivity strength among different genders and physical fitness subtypes (all P<0.05). Connections between food intake and physical health symptom clusters across different genders and physical health types among junior and senior high school students were primarily achieved through instant noodle intake and physical fitness (males of morphological deviation type, weight=0.06), fruit intake and physical fitness (males of baseline steady type, weight=-0.07), potato intake and vital capacity (females of morphological deviation type, weight=0.09), and processed meat intake and vital capacity (females of baseline steady type, weight=0.05). Conclusions Dietary intake serves as a significant modifiable risk factor for the physical fitness of junior and high school students. Interventions should focus on promoting healthy eating habits.

The American Heart Association(AHA)/American Stroke Association(ASA)published the"2024 Guidelines for Primary Stroke Prevention"in the Stroke journal on October 21,2024.This document summarized the clinical research and epidemiological data since the publication of the previous version of the guidelines in 2014,providing strategies and recommendations for stroke prevention across the entire lifecycle.The guidelines emphasized the importance of pharmacological treatment,routine screenings,and lifestyle changes,with updated and refined recommendations.This article dissects the newly revised sections of the guidelines,with a special focus on the management of blood pressure,blood glucose,and blood lipids levels,as well as customized advice for particular populations and patient subgroups.Furthermore,it explores health behavior management strategies,including diet and exercise,by intergarting the knowledge from the previous version of the primary stroke prevention guidelines with pertinent domestic and international materials.The ultimate objective is to offer valuable insights and guidance to China in advancing primary stroke prevention efforts and formulating coherent guidelines and consensuses within this critical domain.

The Janus kinase/signal transducers and activators of transcription (JAK-STAT) control natural killer (NK) cells development and cytotoxic functions, however, whether long non-coding RNAs (lncRNAs) are involved in this pathway remains unknown. We found that miR155HG was elevated in activated NK cells and promoted their proliferation and effector functions in both NK92 and induced-pluripotent stem cells (iPSCs)-derived NK (iPSC-NK) cells, without reliance on its derived miR-155 and micropeptide P155. Mechanistically, miR155HG bound to miR-6756 and relieved its repression of JAK3 expression, thereby promoting the JAK-STAT pathway and enhancing NK cell proliferation and function. Further investigations disclosed that upon cytokine stimulation, STAT3 directly interacts with miR155HG promoter and induces miR155HG transcription. Collectively, we identify a miR155HG-mediated positive feedback loop of the JAK-STAT signaling. Our study will also provide a power target regarding miR155HG for improving NK cell generation and effector function in the field of NK cell adoptive transfer therapy against cancer, especially iPSC-derived NK cells.

[This corrects the article DOI: 10.1016/j.apsb.2018.08.009.].

Aim To explore the mechanism of the syn-ergistic effect of the ferroptosis inducer erastin com-bined with shikonin in promoting ferroptosis in human hypertrophic scar fibroblasts(HSFBs).Methods Hypertrophic scar tissues provided by the General Hos-pital of Ningxia Medical University were collected,and HSFBs were extracted.HSFBs were identified by HE staining and immunofluorescence.The inhibitory rates of Era and SHK on HSFBs at different concentrations were detected by CCK-8 assay,and the IC50 value was calculated.CompuSyn software was used to calculate the co-use index(CI).Control group,Erastin(Era)group,shikonin(SHK)group and Era+SHK group were set up,and the number and morphological chan-ges of cells were observed after 24 hours of interven-tion.The ability of cell migration and invasion was de-tected by scratch test and Transwell test.The changes of malondialdehyde(MDA),total iron ion and reactive oxygen species(ROS)were detected by corresponding biochemical kits.The expressions of collagen I,α-SMA and GOT1,SLC7A11,GPX4 and FTH1 were detected by Western blot.Results The IC50 value of Era and SHK of primary HSFBs was 2.22 μmol·L-1 and 3.94μmol·L-1 respectively,which was used as the single drug concentration for subsequent experiments.The CompuSyn software was employed to calculate the CI value when the two drugs were used in combination,and the concentrations corresponding to CI=0.39597(Era:1.2 μmol·L-1+SHK:1.5 μmol·L-1)were selected as subsequent combination concentrations(Because when CI was equal to 0.395 97,the concen-tration of each drug was lower than the concentration of single drug,and the inhibition rate of combined drug was greater than 50％).Compared with the monother-apy group,the number of HSFBs in the SHK+Era group was significantly reduced,cell membrane showed breakage and vesiculation,cell wrinkling became smal-ler,and cytoplasm was concentrated.The migration and invasion ability of HSFBs in the SHK+Era group were obviously weakened(P＜0.05),and the expres-sion of fibrosis-related proteins collagen Ⅰ and α-SMA was reduced(P＜0.05);the contents of MDA,total i-ron ions,and ROS in HSFBs of the SHK+Era group increased(P＜0.05),and the protein expression lev-els of SLC7A11,GOT1,GPX4,and FTH1 further de-creased(P＜0.05).Conclusions Erastin in combi-nation with shikonin can synergistically inhibit the pro-liferation,migration and fibrosis levels of HSFBs.The mechanism may be that erastin enhances the inhibition of shikotin on GOT1,increases the levels of cellular i-ron ions,ROS,and lipid peroxides,thereby promoting ferroptosis in HSFBs.

Objective:To understand the burden of chronic kidney disease (CKD) and its risk factors in Fujian Province during 1990-2019.Methods:Based on the Global Burden of Disease Study 2019, the incidence rate, mortality rate and disability-adjusted life years (DALYs) of CKD in Fujian from 1990 to 2019 were calculated. An age-period-cohort model was used to estimate the effects of age, period, and cohort on age-standardized incidence rate (ASIR), age-standardized mortality rate (ASMR), and age-standardized DALY rate (ASDR) of CKD. Comparative risk assessment theory was used to calculate the potential attributable DALYs due to risk factors.Results:In 2019, the ASIR of CKD in Fujian exceeded the national average. The ASIR of CKD showed an increasing trend from 1990 to 2019, but the ASMR and ASDR of CKD exhibited decreasing trends during the same period. In 2019, the ASIR of CKD was higher in women than in men, while the ASMR and ASDR were higher in men than in women. Age-period-cohort analysis indicated that ASIR, ASMR, and ASDR of CKD increased with age. The period effect for ASIR decreased first before increase, while the period effect for ASMR and ASDR displayed fluctuating trends. The cohort effect showed an upward trajectory for ASIR, but a stable status before downward trajectories for ASMR and ASDR. Compared with 1990, except the increase in the ASDR of CKD attributed to high BMI and high temperatures, the ASDR of CKD attributed to other risk factors all showed decreases in 2019. However, the ASDR attributed to high sodium intake remained higher compared with the global average.Conclusion:The burden of CKD remains heavy in Fujian, and it is necessary to reduce the attributable risk factors, such as high sodium intake and high BMI, to address this problem.

The American Heart Association(AHA)/American Stroke Association(ASA)published the"2024 Guidelines for Primary Stroke Prevention"in the Stroke journal on October 21,2024.This document summarized the clinical research and epidemiological data since the publication of the previous version of the guidelines in 2014,providing strategies and recommendations for stroke prevention across the entire lifecycle.The guidelines emphasized the importance of pharmacological treatment,routine screenings,and lifestyle changes,with updated and refined recommendations.This article dissects the newly revised sections of the guidelines,with a special focus on the management of blood pressure,blood glucose,and blood lipids levels,as well as customized advice for particular populations and patient subgroups.Furthermore,it explores health behavior management strategies,including diet and exercise,by intergarting the knowledge from the previous version of the primary stroke prevention guidelines with pertinent domestic and international materials.The ultimate objective is to offer valuable insights and guidance to China in advancing primary stroke prevention efforts and formulating coherent guidelines and consensuses within this critical domain.

Objective:To understand the burden of chronic kidney disease (CKD) and its risk factors in Fujian Province during 1990-2019.Methods:Based on the Global Burden of Disease Study 2019, the incidence rate, mortality rate and disability-adjusted life years (DALYs) of CKD in Fujian from 1990 to 2019 were calculated. An age-period-cohort model was used to estimate the effects of age, period, and cohort on age-standardized incidence rate (ASIR), age-standardized mortality rate (ASMR), and age-standardized DALY rate (ASDR) of CKD. Comparative risk assessment theory was used to calculate the potential attributable DALYs due to risk factors.Results:In 2019, the ASIR of CKD in Fujian exceeded the national average. The ASIR of CKD showed an increasing trend from 1990 to 2019, but the ASMR and ASDR of CKD exhibited decreasing trends during the same period. In 2019, the ASIR of CKD was higher in women than in men, while the ASMR and ASDR were higher in men than in women. Age-period-cohort analysis indicated that ASIR, ASMR, and ASDR of CKD increased with age. The period effect for ASIR decreased first before increase, while the period effect for ASMR and ASDR displayed fluctuating trends. The cohort effect showed an upward trajectory for ASIR, but a stable status before downward trajectories for ASMR and ASDR. Compared with 1990, except the increase in the ASDR of CKD attributed to high BMI and high temperatures, the ASDR of CKD attributed to other risk factors all showed decreases in 2019. However, the ASDR attributed to high sodium intake remained higher compared with the global average.Conclusion:The burden of CKD remains heavy in Fujian, and it is necessary to reduce the attributable risk factors, such as high sodium intake and high BMI, to address this problem.