Accurate diagnosis of Mendelian diseases is crucial for precision therapy and assistance in preimplantation genetic diagnosis. However, existing methods often fall short of clinical standards or depend on extensive datasets to build pretrained machine learning models. To address this, we introduce an innovative LLM-Driven multi-agent debate system (MD2GPS) with natural language explanations of the diagnostic results. It utilizes a language model to transform results from data-driven and knowledge-driven agents into natural language, then fostering a debate between these two specialized agents. This system has been tested on 1,185 samples across four independent datasets, enhancing the TOP1 accuracy from 42.9% to 66% on average. Additionally, in a challenging cohort of 72 cases, MD2GPS identified potential pathogenic genes in 12 patients, reducing the diagnostic time by 90%. The methods within each module of this multi-agent debate system are also replaceable, facilitating its adaptation for diagnosing and researching other complex diseases.

Rapid bone scintigraphy is crucial for diagnosing skeletal disorders and detecting tumor metastases in children, as it shortens scan duration and reduces discomfort. However, accelerated acquisition often degrades image quality, impairing the visibility of fine anatomical details and potentially compromising diagnosis. To overcome this limitation, we introduce the first application of SAM-based semantic priors for medical image restoration, utilizing the Segment Anything Model (SAM) to enhance pediatric rapid bone scintigraphy. Our approach employs two cascaded networks, $f^{IR1}$ and $f^{IR2}$, supported by three specialized modules: a Semantic Prior Integration (SPI) module, a Semantic Knowledge Distillation (SKD) module, and a Semantic Consistency Module (SCM). The SPI and SKD modules inject domain-specific semantic cues from a fine-tuned SAM, while the SCM preserves coherent semantic feature representations across both cascaded stages. Moreover, we present RBS, a novel Rapid Bone Scintigraphy dataset comprising paired standard (20 cm/min) and rapid (40 cm/min) scans from 137 pediatric patients aged 0.5 - 16 years, making it the first dataset tailored for pediatric rapid bone scintigraphy restoration. Extensive experiments on both a public endoscopic dataset and our RBS dataset demonstrate that our method consistently surpasses existing techniques in PSNR, SSIM, FID, and LPIPS metrics.