RESUMEN
Rare genetic diseases are difficult to diagnose and this translates in patient's diagnostic odyssey! This is particularly true for more than 900 rare diseases including orodental developmental anomalies such as missing teeth. However, if left untreated, their symptoms can become significant and disabling for the patient. Early detection and rapid management are therefore essential in this context. The i-Dent project aims to supply a pre-diagnostic tool to detect rare diseases with tooth agenesis of varying severity and pattern. To identify missing teeth, image segmentation models (Mask R-CNN, U-Net) have been trained for the automatic detection of teeth on patients' panoramic dental X-rays. Teeth segmentation enables the identification of teeth which are present or missing within the mouth. Furthermore, a dental age assessment is conducted to verify whether the absence of teeth is an anomaly or a characteristic of the patient's age. Due to the small size of our dataset, we developed a new dental age assessment technique based on the tooth eruption rate. Information about missing teeth is then used by a final algorithm based on the agenesis probabilities to propose a pre-diagnosis of a rare disease. The results obtained in detecting three types of genes (PAX9, WNT10A and EDA) by our system are very promising, providing a pre-diagnosis with an average accuracy of 72 %.
Asunto(s)
Enfermedades Raras , Humanos , Enfermedades Raras/genética , Enfermedades Raras/diagnóstico por imagen , Niño , Masculino , Femenino , Radiografía Panorámica , AdolescenteRESUMEN
An environment composed of different types of living tissues (such as the abdominal cavity) reveals a high complexity of boundary conditions, which are the attachments (e.g. connective tissues, ligaments) connecting different anatomical structures. Together with the material properties, the boundary conditions have a significant influence on the mechanical response of the organs, however corresponding correct mechanical modeling remains a challenging task, as the connective structures are difficult to identify in certain standard imaging modalities. In this paper, we present a method for automatic modeling of boundary conditions in deformable anatomical structures, which is an important step in patient-specific biomechanical simulations. The method is based on a statistical atlas which gathers data defining the connective structures attached to the organ of interest. In order to transfer the information stored in the atlas to a specific patient, the atlas is registered to the patient data using a physics-based technique and the resulting boundary conditions are defined according to the mean position and variance available in the atlas. The method is evaluated using abdominal scans of ten patients. The results show that the atlas provides a sufficient information about the boundary conditions which can be reliably transferred to a specific patient. The boundary conditions obtained by the atlas-based transfer show a good match both with actual segmented boundary conditions and in terms of mechanical response of deformable organs.