Citations

Background/Objectives: Facial analysis is critical for preoperative planning in facial plastic surgery, but traditional methods can be time consuming and subjective. This study investigated the potential of Artificial Intelligence (AI) for objective and efficient facial analysis in plastic surgery, with a specific focus on Multimodal Large Language Models (MLLMs). We evaluated their ability to analyze facial skin quality, volume, symmetry, and adherence to aesthetic standards such as neoclassical facial canons and the golden ratio. Methods: We evaluated four MLLMs—ChatGPT-4o, ChatGPT-4, Gemini 1.5 Pro, and Claude 3.5 Sonnet—using two evaluation forms and 15 diverse facial images generated by a Generative Adversarial Network (GAN). The general analysis form evaluated qualitative skin features (texture, type, thickness, wrinkling, photoaging, and overall symmetry). The facial ratios form assessed quantitative structural proportions, including division into equal fifths, adherence to the rule of thirds, and compatibility with the golden ratio. MLLM assessments were compared with evaluations from a plastic surgeon and manual measurements of facial ratios. Results: The MLLMs showed promise in analyzing qualitative features, but they struggled with precise quantitative measurements of facial ratios. Mean accuracy for general analysis were ChatGPT-4o (0.61 ± 0.49), Gemini 1.5 Pro (0.60 ± 0.49), ChatGPT-4 (0.57 ± 0.50), and Claude 3.5 Sonnet (0.52 ± 0.50). In facial ratio assessments, scores were lower, with Gemini 1.5 Pro achieving the highest mean accuracy (0.39 ± 0.49). Inter-rater reliability, based on Cohen’s Kappa values, ranged from poor to high for qualitative assessments (κ > 0.7 for some questions) but was generally poor (near or below zero) for quantitative assessments. Conclusions: Current general purpose MLLMs are not yet ready to replace manual clinical assessments but may assist in general facial feature analysis. These findings are based on testing models not specifically trained for facial analysis and serve to raise awareness among clinicians regarding the current capabilities and inherent limitations of readily available MLLMs in this specialized domain. This limitation may stem from challenges with spatial reasoning and fine-grained detail extraction, which are inherent limitations of current MLLMs. Future research should focus on enhancing the numerical accuracy and reliability of MLLMs for broader application in plastic surgery, potentially through improved training methods and integration with other AI technologies such as specialized computer vision algorithms for precise landmark detection and measurement.

Background: Anatomically accurate illustrations are imperative in medical education, serving as crucial tools to facilitate comprehension of complex anatomical structures. While traditional illustration methods involving human artists remain the gold standard, the rapid advancement of Generative Artificial Intelligence (GAI) models presents a new opportunity to automate and accelerate this process. This study evaluated the potential of GAI models to produce craniofacial anatomy illustrations for educational purposes. Methods: Four GAI models, including Midjourney v6.0, DALL-E 3, Gemini Ultra 1.0, and Stable Diffusion 2.0 were used to generate 736 images across multiple views of surface anatomy, bones, muscles, blood vessels, and nerves of the cranium in both oil painting and realistic photograph styles. Four reviewers evaluated the images for anatomical detail, aesthetic quality, usability, and cost-effectiveness. Inter-rater reliability analysis assessed evaluation consistency. Results: Midjourney v6.0 scored highest for aesthetic quality and cost-effectiveness, and DALL-E 3 performed best for anatomical detail and usability. The inter-rater reliability analysis demonstrated a high level of agreement among reviewers (ICC = 0.858, 95% CI). However, all models showed significant flaws in depicting crucial anatomical details such as foramina, suture lines, muscular origins/insertions, and neurovascular structures. These limitations were further characterized by abstract depictions, mixing of layers, shadowing, abnormal muscle arrangements, and labeling errors. Conclusions: These findings highlight GAI’s potential for rapidly creating craniofacial anatomy illustrations but also its current limitations due to inadequate training data and incomplete understanding of complex anatomy. Refining these models through precise training data and expert feedback is vital. Ethical considerations, such as potential biases, copyright challenges, and the risks of propagating inaccurate information, must also be carefully navigated. Further refinement of GAI models and ethical safeguards are essential for safe use.

Abstract Objective The rapid evolution of the COVID-19 virus has led to the development of different vaccine shots, each designed to combat specific variants and enhance overall efficacy. While vaccines have been crucial in controlling the spread of the virus, they can also cause adverse events (AEs). Understanding these relationships is vital for vaccine safety monitoring and surveillance. Methods In our study, we collected data from the Vaccine Adverse Event Reporting System (VAERS) and social media platforms (Twitter and Reddit) to extract relationships between COVID-19 vaccine shots and adverse events. The dataset comprised 771 relation pairs, enabling a comprehensive analysis of adverse event patterns. We employed state-of-the-art GPT models, including GPT-3.5 and GPT-4, alongside traditional models such as Recurrent Neural Networks (RNNs) and BioBERT, to extract these relationships. Additionally, we used two sets of post-processing rules to further refine the extracted relations. Evaluation metrics including precision, recall, and F1-score were used to assess the performance of our models in extracting these relationships accurately. Results The most commonly reported AEs following the primary series of COVID-19 vaccines include arm soreness, fatigue, and headache, while the spectrum of AEs following boosters is more diverse. In relation extraction, fine-tuned GPT-3.5 with Sentence-based Relation Identification achieved the highest precision of 0.94 and a perfect recall of 1, resulting in an impressive F1 score of 0.97. Conclusion This study advances biomedical informatics by showing how large language models and deep learning models can extract relationships between vaccine shots and adverse events from VAERS and social media. These findings improve vaccine safety monitoring and clinical practice by enhancing our understanding of post-vaccination symptoms. The study sets a precedent for future research in natural language processing and biomedical informatics, with potential applications in pharmacovigilance and clinical decision-making.

Abstract Introduction COVID-19, a global health crisis, prompted rapid vaccine development. Bivalent vaccines by Pfizer-BioNTech and Moderna target both original and Omicron strains. Despite vaccination efforts, the persistence of adverse events underscores the importance of ongoing safety monitoring. Method We collected COVID-19 bivalent vaccine adverse event reports from the Vaccine Adverse Event Reporting System (VAERS) (September 15, 2022, to September 1, 2023). The Medical Dictionary for Regulatory Activities (MedDRA) categorized reported symptoms into corresponding concepts. Statistical analyses included zero-truncated Poisson regression for estimating symptom rates, logistic regression for identifying risk factors, and Spearman correlation for assessing non-parametric relationships between adverse events in different System Organ Classes (SOCs). Results Our analysis of COVID-19 bivalent vaccine adverse events identified significant correlations between SOCs. Notably, a positive correlation (ρ = 0.3) linked Infections (SOC 1) with Respiratory disorders (SOC 13), while a negative correlation (ρ=-0.3) connected Investigations (SOC 23) with Injury (SOC 24). Zero-truncated Poisson modeling estimated an average of 6.179 symptoms per individual, varying by age, gender, and vaccine. Gender and age significantly influence reported adverse events associated with COVID-19 bivalent vaccines. Females generally experienced higher odds for most SOCs compared to males, except for cardiac and product-related issues. Older adults showed a higher likelihood of symptoms across various SOCs, while children and adolescents had distinct susceptibility patterns. Additionally, Moderna and Pfizer vaccines were associated with different SOCs, with Moderna linked mainly to immune and skin disorders and Pfizer associated primarily with cardiac and metabolic issues. Conclusion In conclusion, our study aligned self-reported items with widely-accepted medical terminology and rigorously analyzed adverse events following COVID-19 bivalent vaccine using advanced statistical methods. The significant findings provide crucial insights, guiding evidence-based strategies and interventions for vaccine safety.

Background: Electronic Health Records (EHRs) encompass valuable data essential for disease prediction. The application of artificial intelligence (AI), particularly deep learning, significantly enhances disease prediction by analyzing extensive EHR datasets to identify hidden patterns, facilitating early detection. Recently, numerous foundation models pretrained on extensive data have demonstrated efficacy in disease prediction using EHRs. However, there remains some unanswered questions on how to best utilize such models, especially with very small fine-tuning cohorts. Methods: We utilized Med-BERT, an EHR-specific foundation model, and reformulated the disease binary prediction task into a token prediction task and a next visit mask token prediction task to align with Med-BERT’s pretraining task format in order to improve the accuracy of pancreatic cancer (PaCa) prediction in both few-shot and fully supervised settings. Results: The reformulation of the task into a token prediction task, referred to as Med-BERT-Sum, demonstrated slightly superior performance in both few-shot scenarios and larger data samples. Furthermore, reformulating the prediction task as a Next Visit Mask Token Prediction task (Med-BERT-Mask) significantly outperformed the conventional Binary Classification (BC) prediction task (Med-BERT-BC) by 3% to 7% in few-shot scenarios with data sizes ranging from 10 to 500 samples. These findings highlight that aligning the downstream task with Med-BERT’s pretraining objectives substantially enhances the model’s predictive capabilities, thereby improving its effectiveness in predicting both rare and common diseases. Conclusions: Reformatting disease prediction tasks to align with the pretraining of foundation models enhances prediction accuracy, leading to earlier detection and timely intervention. This approach improves treatment effectiveness, survival rates, and overall patient outcomes for PaCa and potentially other cancers.

Abstract Advances in genomic medicine have accelerated the identification of mutations in disease- associated genes, but the pathogenicity of many mutations remains unknown, hindering their use in diagnostics and clinical decision-making. Predictive AI models have been generated to combat this issue, but current tools display low accuracy when tested against functionally validated datasets. We show that integrating detailed conformational data extracted from molecular dynamics simulations (MDS) into advanced AI-based models can increase their predictive power. We carried out an exhaustive mutational analysis of the disease gene PMM2 and subjected structural models of each variant to MDS. AI models trained on this dataset outperformed existing tools when predicting the known pathogenicity of mutations. Our best performing model, a neuronal networks model, was also able to predict the pathogenicity of several PMM2 mutations currently considered of unknown significance. We believe this new model will help alleviate the burden of unknown variants in genomic medicine.

Abstract Objective Human Papillomavirus (HPV) vaccine is an effective measure to prevent and control the diseases caused by HPV. However, widespread misinformation and vaccine hesitancy remain significant barriers to its uptake. This study focuses on the development of VaxBot-HPV, a chatbot aimed at improving health literacy and promoting vaccination uptake by providing information and answering questions about the HPV vaccine. Methods We constructed the knowledge base (KB) for VaxBot-HPV, which consists of 451 documents from biomedical literature and web sources on the HPV vaccine. We extracted 202 question-answer pairs from the KB and 39 questions generated by GPT-4 for training and testing purposes. To comprehensively understand the capabilities and potential of GPT-based chatbots, 3 models were involved in this study: GPT-3.5, VaxBot-HPV, and GPT-4. The evaluation criteria included answer relevancy and faithfulness. Results VaxBot-HPV demonstrated superior performance in answer relevancy and faithfulness compared to baselines. For test questions in KB, it achieved an answer relevancy score of 0.85 and a faithfulness score of 0.97. Similarly, it attained scores of 0.85 for answer relevancy and 0.96 for faithfulness on GPT-generated questions. Discussion VaxBot-HPV demonstrates the effectiveness of fine-tuned large language models in healthcare, outperforming generic GPT models in accuracy and relevance. Fine-tuning mitigates hallucinations and misinformation, ensuring reliable information on HPV vaccination while allowing dynamic and tailored responses. The specific fine-tuning, which includes context in addition to question-answer pairs, enables VaxBot-HPV to provide explanations and reasoning behind its answers, enhancing transparency and user trust. Conclusions This study underscores the importance of leveraging large language models and fine-tuning techniques in the development of chatbots for healthcare applications, with implications for improving medical education and public health communication.

Abstract Objective SNOMED CT provides a standardized terminology for clinical concepts, allowing cohort queries over heterogeneous clinical data including Electronic Health Records (EHRs). While it is intuitive that missing and inaccurate subtype (or is-a) relations in SNOMED CT reduce the recall and precision of cohort queries, the extent of these impacts has not been formally assessed. This study fills this gap by developing quantitative metrics to measure these impacts and performing statistical analysis on their significance. Material and Methods We used the Optum de-identified COVID-19 Electronic Health Record dataset. We defined micro-averaged and macro-averaged recall and precision metrics to assess the impact of missing and inaccurate is-a relations on cohort queries. Both practical and simulated analyses were performed. Practical analyses involved 407 missing and 48 inaccurate is-a relations confirmed by domain experts, with statistical testing using Wilcoxon signed-rank tests. Simulated analyses used two random sets of 400 is-a relations to simulate missing and inaccurate is-a relations. Results Wilcoxon signed-rank tests from both practical and simulated analyses (P-values < .001) showed that missing is-a relations significantly reduced the micro- and macro-averaged recall, and inaccurate is-a relations significantly reduced the micro- and macro-averaged precision. Discussion The introduced impact metrics can assist SNOMED CT maintainers in prioritizing critical hierarchical defects for quality enhancement. These metrics are generally applicable for assessing the quality impact of a terminology’s subtype hierarchy on its cohort query applications. Conclusion Our results indicate a significant impact of missing and inaccurate is-a relations in SNOMED CT on the recall and precision of cohort queries. Our work highlights the importance of high-quality terminology hierarchy for cohort queries over EHR data and provides valuable insights for prioritizing quality improvements of SNOMED CT's hierarchy.

Abstract Background: HPV vaccine is an effective measure to prevent and control the diseases caused by Human Papillomavirus (HPV). This study addresses the development of VaxBot-HPV, a chatbot aimed at improving health literacy and promoting vaccination uptake by providing information and answering questions about the HPV vaccine; Methods: We constructed the knowledge base (KB) for VaxBot-HPV, which consists of 451 documents from biomedical literature and web sources on the HPV vaccine. We extracted 202 question-answer pairs from the KB and 39 questions generated by GPT-4 for training and testing purposes. To comprehensively understand the capabilities and potential of GPT-based chatbots, three models were involved in this study : GPT-3.5, VaxBot-HPV, and GPT-4. The evaluation criteria included answer relevancy and faithfulness; Results: VaxBot-HPV demonstrated superior performance in answer relevancy and faithfulness compared to baselines (Answer relevancy: 0.85; Faithfulness: 0.97) for the test questions in KB, (Answer relevancy: 0.85; Faithfulness: 0.96) for GPT generated questions; Conclusions: This study underscores the importance of leveraging advanced language models and fine-tuning techniques in the development of chatbots for healthcare applications, with implications for improving medical education and public health communication.