A Specialized Large Language Model for Clinical Reasoning and Diagnosis in Rare Diseases

Rare diseases affect hundreds of millions worldwide, yet diagnosis often spans years. Convectional pipelines decouple noisy evidence extraction from downstream inferential diagnosis, and general/medical large language models (LLMs) face scarce real world electronic health records (EHRs), stale domain knowledge, and hallucinations. We assemble a large, domain specialized clinical corpus and a clinician validated reasoning set, and develop RareSeek R1 via staged instruction tuning, chain of thought learning, and graph grounded retrieval. Across multicenter EHR narratives and public benchmarks, RareSeek R1 attains state of the art accuracy, robust generalization, and stability under noisy or overlapping phenotypes. Augmented retrieval yields the largest gains when narratives pair with prioritized variants by resolving ambiguity and aligning candidates to mechanisms. Human studies show performance on par with experienced physicians and consistent gains in assistive use. Notably, transparent reasoning highlights decisive non phenotypic evidence (median 23.1%, such as imaging, interventions, functional tests) underpinning many correct diagnoses. This work advances a narrative first, knowledge integrated reasoning paradigm that shortens the diagnostic odyssey and enables auditable, clinically translatable decision support.

Fast Inventory for 3GPP Ambient IoT Considering Device Unavailability due to Energy Harvesting

With the growing demand for massive internet of things (IoT), new IoT technology, namely ambient IoT (A-IoT), has been studied in the 3rd Generation Partnership Project (3GPP). A-IoT devices are batteryless and consume ultra-low power, relying on energy harvesting and energy storage to capture a small amount of energy for communication. A promising usecase of A-IoT is inventory, where a reader communicates with hundreds of A-IoT devices to identify them. However, energy harvesting required before communication can significantly delay or even fail inventory completion. In this work, solutions including duty cycled monitoring (DCM), device grouping and low-power receiving chain are proposed. Evaluation results show that the time required for a reader to complete an inventory procedure for hundreds of A-IoT devices can be reduced by 50% to 83% with the proposed methods.