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 application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

Academic publishing is at a critical juncture. The challenges faced by the academics are mired in controversy. Among theseare three hotly debated concerns. First is the issue of whether technological innovations such as artificial intelligence (AI)improves research efficiency or if its use sacrifices research integrity.Another is the controversy between paywall publishingand open access. Lastly, adapting an appropriate business model for sustainability is a contentious issue and the choice betweena commercial or a university-based publishing platform is a difficult one.

Traditional models of scientific investigation relied on tedious intellectual calisthenics in all aspects of research —identifying research gaps, reviewing of published literature, devising valid methodology, collecting data, analysing results, and,finally, drawing conclusions. With the advent of powerful tools employing artificial intelligence, these heavy tasks are efficientlycarried out. The dilemma lies in determining which parts of the work can be attributed to the authors and which are ascribedto the output of large language models (LLMs) and other automated assistance employed.Despite requiring adequate vettingby experts of these AI-aided output, many in the scientific community still question these methods. Can research employingAI be considered honest work? Will full disclosure answer doubts as to the integrity of the scientific work?

Indeed, LLMs just gather information that is already out there, albeit more efficiently. After all, science progresses bystanding on the shoulder of giants. AI makes such work comprehensive and efficient. Standing on those proverbial shoulders,however, require access to prior work, hence our next challenge in academic publishing--open access versus paid access.Paywalls limit the benefits of valuable research to institutions and universities with the capacity to pay. Excluded from these arethose from low resourced countries, with nations from the global south being affected disproportionately. Additionally, whilenumerous authors appreciate the features of open access as it improves their impact and visibility, many feel unduly burdenedsince the cost of publishing in this format is passed on to them.

This brings us to our third issue: who bears the cost of academic publishing? Indeed, it is a lucrative industry, generatingan annual revenue of US$19 billion and an estimated 40 percent profit margin. Many, however, find fault in this businessmodel as concerns about the profit motives of the commercial publishers far overshadow their sustainability goals.

How do we navigate this landscape of controversies? We, at the ACTA, as part of the community of scholars, would needto clarify our mission. Our goals for this publication should be consistent with our values. These values, such as scientific rigor,integrity, and accountability, should be reflected in our policies. We should be cognizant of the role we play in national scientificdiscourse while we endeavor to make an impact in the global scene. We are accountable to our stakeholders — nurturingearly career scholars, supplying evidence to health policymakers, and being accountable to those who provide resources tosustain us. This stewardship is essential so that ACTA will stand shoulder to shoulder with the giants on which science buildsupon to benefit future generations.

Artificial Intelligence ; Commerce ; Costs And Cost Analysis ; Disclosure ; Drawing ; Efficiency ; Family Characteristics ; Forecasting ; Goals ; Gymnastics ; Health ; Health Resources ; Industry ; Intelligence ; Inventions ; Language ; Literature ; Methods ; Play And Playthings ; Policy ; Publications ; Publishing ; Research ; Residence Characteristics ; Role ; Science ; Shoulder ; Social Responsibility ; Universities ; Ursidae ; Volition ; Work ; World Health Organization

The growing use of generative artificial intelligence (AI) has coincided with more timely manuscript submissions and improved efficiency in scientific writing. While AI tools help authors produce clear and well-structured work, excessive or undisclosed reliance raises concerns about originality, authenticity, and the integrity of scholarly publications. Editors increasingly recognize AI-assisted writing and face the challenge of preserving rigorous standards. Emerging guidelines emphasize transparency in AI use, alongside the need to retain individual voice and diversity in scientific expression. This editorial highlights the balance between leveraging AI’s benefits and safeguarding ethical publication practices, while acknowledging contributors to the current issue.

Writing ; Work ; Voice ; Reference Standards ; Artificial Intelligence ; Intelligence ; Efficiency

Artificial intelligence (AI) and generative artificial intelligence (GenAI) have gained increasing relevance in occupational therapy (OT) due to their potential to enhance clinical practice, optimize client care, and shape the future of OT education. Despite growing international evidence, literature addressing AI use in OT remains limited in the Philippine context. This Special Collection on AI in Occupational Therapy seeks to address this gap by examining the perspectives and experiences of key stakeholders across OT education and practice through a stakeholder-informed qualitative approach. Using interviews and focus group discussions, insights from school administrators, OT educators, interns, students, and clinicians are gathered to explore their attitudes, concerns, and lived experiences related to AI use in occupational therapy. These multi-perspective findings aim to inform the development of contextually grounded frameworks, institutional policies, and evidence-based programs that support ethical, sustainable, and meaningful integration of AI in OT education and practice within the local setting.

Human ; Artificial Intelligence ; Occupational Therapy ; Philippines

BACKGROUND

Artificial Intelligence (AI) is increasingly transforming various fields, including healthcare. In occupational therapy (OT), Generative AI (GenAI) holds promise for enhancing clinical practice and patient outcomes. However, its successful integration depends not only on technological advancements but also on the perceptions, acceptance, and experiences of clinicians. Despite global interest, limited research exists on the perspectives of OT practitioners in the Philippines.

OBJECTIVE

A qualitative study will be conducted with a theoretical sample of 15 OT clinicians actively working across Metro Manila who are familiar with AI, excluding those in academic roles. The Technology Acceptance Model (TAM) will be used as a guiding framework to understand OT clinicians' attitudes towards the usage of GenAI. After a successful pilot test, one-on-one semi-structured interviews will be
conducted online. Data will be thematically analyzed using NVivo 15, following a coding framework

METHODS

A qualitative study will be conducted with a theoretical sample of 15 OT clinicians actively working across Metro Manila who are familiar with AI, excluding those in academic roles. The Technology Acceptance Model (TAM) will be used as a guiding framework to understand OT clinicians' attitudes towards the usage of GenAI. After a successful pilot test, one-on-one semi-structured interviews will be
conducted online. Data will be thematically analyzed using NVivo 15, following a coding framework

EXPECTED RESULTS

The study is expected to provide insights into the familiarity, experiences, attitudes, and intentions of OT clinicians in Metro Manila regarding AI use in clinical practice. Findings may identify perceived benefits, concerns, ethical and practical considerations, and factors influencing the adoption of AI, highlighting opportunities and barriers for its responsible integration into OT practice.

Human ; Artificial Intelligence ; Occupational Therapy

OBJECTIVES

This study aims to create a study protocol that will explore UST administrators’ perceptions of the benefits and risks of AI use in higher education learning environments.

METHODS

A qualitative descriptive design will be employed, using semi-structured interviews with at least fifteen administrators selected through purposive sampling. Audio-recorded interviews will be transcribed verbatim and subjected to thematic analysis using NVivo software

RESULTS

Administrators from different college-level fields perceive and engage with AI across various academic contexts. Exploring these perceptions will allow guidance in the development of coherent, contextually grounded institutional policies that promote responsible GenAI use and support digital leadership in Philippine higher education.

Human ; Artificial Intelligence ; Universities ; Software ; Administrative Personnel ; Intelligence ; Risk ; Policy

BACKGROUND

Generative artificial intelligence (GenAI) is increasingly integrated into healthcare, including occupational therapy (OT), with potential applications in its service delivery and clinical decision-making. While GenAI offers promising educational and clinical support, its generative nature introduces risks related to contextual accuracy, transparency, and ethical use, particularly within supervised clinical training settings where professional judgment is still developing. Empirical research examining GenAI integration in OT clinical training remains limited, especially within the Philippine context.

OBJECTIVE

This is a protocol for a study which aims to explore the perceptions of OT interns in Manila, Philippines, regarding GenAI integration in clinical training, including perceived benefits, challenges, and ethical considerations, guided by Rogers’ Diffusion of Innovations Theory

METHODS

This qualitative study protocol describes an exploratory design that will be used to gather rich and contextualized insights from 24 to 32 OT interns enrolled in universities in Manila with established institutional AI-use policies. Data will be collected through semi-structured online focus group discussions (FGD). Thematic analysis will be used with assistance from atlas.ti. 

EXPECTED RESULTS

The study is expected to generate meaningful themes that describe the perceptions of OT interns regarding the integration of GenAI within supervised clinical training contexts. Results are expected to reflect how interns perceive the role of GenAI in supporting clinical decision-making, as well as its perceived challenges and ethical concerns related to institutional policies, data privacy, reliability, and variability in AI-generated outputs.

Human ; Therapeutics ; Universities ; Volition ; Philippines ; Clinical Decision-making ; Artificial Intelligence

OBJECTIVE

This meta-analysis aimed to evaluate the diagnostic capability of machine learning (ML) models in predicting stone-free status following percutaneous nephrolithotomy (PCNL).

METHODS

A comprehensive literature search was conducted across MEDLINE, Embase, Scopus, Cochrane, Google Scholar and supplementary databases was undertaken until June 2023. Inclusion criteria were English publications assessing the sensitivity and specificity of ML in predicting post PCNL stone-free status. Studies on non-human subjects or with incomplete data sets were excluded. Quality assessment utilized the Cochrane Risk of Bias Tool. Pooled sensitivity, specificity, and other diagnostic metrics were calculated using Meta-Disc 1.4 software.

RESULTS

Of the 65 initial articles, 5 met the inclusion criteria, representing a total of 1,773 participants. The accuracy of ML models ranged from 44% to 94.8%. The pooled sensitivity and specificity were 0.60 (95% CI [0.57, 0.63]) and 0.87 (95% CI [0.84, 0.89]), respectively. The pooled positive likelihood ratio was 4.69 (95% CI [3.82, 5.77]) and the negative likelihood ratio was 0.45 (95% CI [0.41, 0.48]). The diagnostic odds ratio was 10.93 (95% CI [8.35, 14.33]). The area under the curve (AUC) stood at 0.9372, signifying an excellent diagnostic performance.

CONCLUSION

Machine learning models demonstrate significant potential in accurately predicting stone-free status post-PCNL. However, the small number of included studies, retrospective designs, and heterogeneity in ML approaches limit generalizability. Standardized definitions, larger multicenter datasets, and prospective validation are required before routine clinical adoption.

Human ; Male ; Female ; Meta-analysis ; Artificial Intelligence ; Machine Learning ; Nephrolithotomy, Percutaneous

OBJECTIVES: This study aimed to construct a risk prediction model for the occurrence of the demora-lization syndrome in patients with oral cancer and provide a scientific basis for the prevention of this syndrome in patients with oral cancer and the development of personalized care programs. METHODS: A total of 486 patients with oral cancer in West China Hospital of Stomatology of Sichuan University and Sun Yat-sen Memorial Hospital of Sun Yat-sen University from 2024 March to July were selected by convenience sampling. We integrated clinical data and evidence from previous studies to identify the key variables affecting the demoralization syndrome in patients with oral cancer. The 486 patients were divided into a training set and a validation set in an 8∶2 ratio. A clinical risk prediction model was established based on the individual data of 365 patients in the development cohort. Through least absolute shrinkage and selection operator (LASSO) regression, a moderate to severe risk prediction model of demoralization syndrome in oral cancer was constructed, and a clinical machine-learning nomogram was constructed. Bootstrap resampling was used for internal validation. The data of 121 patients in the validation cohort were externally validated. RESULTS: The incidence of the demoralization syndrome in patients with oral cancer was 405 cases (83.3%), of which 279 cases (57.4%) were mild, 176 cases (36.2%) were moderate, and 31 cases (6.4%) were severe. The core model, including patient education level, disease understanding, and MDASI-HN score, was used to predict the risk of outcome. Internal validation of the model yielded C statistic of 0.783 6 (95% CI: 0.78-0.87), beta of 0.843 4, and calibration intercept of -0.040 6. Through external validation, the validation set C statistic was 0.80 (95%CI: 0.71-0.87), beta was 0.80, and calibration intercept was -0.08. CONCLUSIONS Our risk prediction mo-del of the demoralization syndrome in patients with oral cancer performed robustly in validation cohorts of different nur-sing environments. The model has good correction and good discrimination and can be used as an evaluation and prediction item at admission.
Humans ; Mouth Neoplasms/complications* ; Male ; Female ; Nomograms ; Middle Aged ; Syndrome ; Aged ; Adult ; Risk Factors ; Risk Assessment ; Machine Learning