Assessing online chat-based artificial intelligence models for weight loss recommendation appropriateness and bias in the presence of guideline incongruence

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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert. Historically, these patients were treated with frequent doses of oral phosphate supplements and active vitamin D, which was of limited efficiency and associated with adverse effects. However, the management of XLH has evolved in the past few years owing to the availability of burosumab, a fully humanized monoclonal antibody that neutralizes circulating FGF23. Here, we provide updated clinical practice recommendations for the diagnosis and management of XLH to improve outcomes and quality of life in these patients.

Medical foundation large language models for comprehensive text analysis and beyond

Recent advancements in large language models (LLMs) show significant potential in medical applications but are hindered by limited specialized medical knowledge. We present Me-LLaMA, a family of open-source medical LLMs integrating extensive domain-specific knowledge with robust instruction-following capabilities. Me-LLaMA is developed through continual pretraining and instruction tuning of LLaMA2 models using diverse biomedical and clinical data sources (e.g., biomedical literature and clinical notes). We evaluated Me-LLaMA on six text analysis tasks using 12 benchmarks (e.g., PubMedQA and MIMIC-CXR) and assessed its clinical utility in complex case diagnosis through automatic and human evaluations. Me-LLaMA outperforms existing open medical LLMs in zero-shot and supervised settings and surpasses ChatGPT and GPT-4 after task-specific instruction tuning for most text analysis tasks. Its performance is also comparable to ChatGPT and GPT-4 for diagnosing complex clinical cases. Our findings highlight the importance of combining domain-specific continual pretraining with instruction tuning to enhance performance in medical LLMs.

International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia

Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication. Vosoritide is the first pharmacological, precision treatment for achondroplasia; it was approved for use in 2021, creating a need for vosoritide treatment guidelines to support clinicians. An international collaborative of leading experts and patient advocates was formed to develop this Consensus Statement. The group developed the guideline scope and topics during a hybrid meeting in November 2023; guideline statements were subsequently ratified via Delphi methodology using a predefined consensus threshold. These statements provide recommendations across the treatment pathway, from starting treatment with vosoritide through ongoing monitoring and evaluation, to stopping vosoritide and ongoing monitoring following cessation. These guidelines recommend a minimum set of requirements and a practical framework for professionals and health services worldwide regarding the use of vosoritide to treat infants, children and young people with achondroplasia. This Consensus Statement is a supplement to already established consensus guidelines for management and care of individuals with achondroplasia.

Bias recognition and mitigation strategies in artificial intelligence healthcare applications

Artificial intelligence (AI) is delivering value across all aspects of clinical practice. However, bias may exacerbate healthcare disparities. This review examines the origins of bias in healthcare AI, strategies for mitigation, and responsibilities of relevant stakeholders towards achieving fair and equitable use. We highlight the importance of systematically identifying bias and engaging relevant mitigation activities throughout the AI model lifecycle, from model conception through to deployment and longitudinal surveillance.

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