Ana Julia Hidalgo-Bravo

Background/Objectives: The application of additive manufacturing in medicine, and specifically in personalised medicine, has achieved notable development. This article aims to present the results and benefits of applying a comprehensive methodology to simulate, plan, and manufacture customised three-dimensional medical prosthetic devices for use in surgery to restore bone structures with congenital and acquired malformations. Methods: To digitally reconstruct a bone structure in three dimensions from a medical image, a segmentation process is developed to correlate the anatomical model. Then, this model is filtered using a post-processing step to generate stereolithography (STL) files, which are rendered using specialised software. The segmentation of tomographic images is achieved by the specific intensity selection, facilitating the analysis of compact and soft tissues within the anatomical region of interest. With the help of a thresholding algorithm, a three-dimensional digital model of the anatomical structure is obtained, ready for printing the required structure. Results: The described cases demonstrate that the use of anatomical test models, cutting guides, and customised prostheses reduces surgical time and hospital stay, and achieves better aesthetic and functional results. Using materials such as polylactic acid (PLA) for presurgical models, appropriate resins for cutting guides, and biocompatible materials such as polyether ether ketone (PEEK) or polymethylmethacrylate (PMMA) for prostheses, the described improvements are achieved. Conclusions: The achievements attained demonstrate the feasibility of applying these techniques, their advantages and their accessibility in Ecuador. They also reinforce the ideas of personalised medicine in the search for medical treatments and procedures tailored to the needs of each patient.

This paper describes the results and benefits of applying a comprehensive methodology for simulating and planning surgeries related to the restoration of bone structures damaged by various types of pathologies, through seven clinical success cases. Pre-surgery simulations are performed using 3D printed anatomical test models. In addition, restorations or bone transformations are supported by customised implants manufactured for each case, including customised cutting guides as well. Appropriate polymeric materials are used, and Fused Deposition Modelling (FDM) is applied as the main additive manufacturing technique to obtain the medical devices. The results demonstrate the feasibility of applying such techniques, their advantages and the possibilities of access to them in Ecuador.

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next‐Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS. After automatic placement of landmarks, geometric features extraction using procrustes superimposition, and textural features using a gray‐level co‐occurrence matrix (GLCM), we incorporated age, gender, and ethnicity and used XGboost (eXtreme Gradient Boosting) for classification. An independent validation set of confirmed CSS cases from centers in Bangalore (India) and Tbilissi (Georgia) was used. We then tested for differences between genotype groups. Finally, we introduced a new approach for generating synthetic faces of children with CSS. The training set included over 196 photographs from our center, corresponding to 58 patients (29 controls, 29 CSS). We distinguished CSS from controls in the independent validation group with an accuracy of 90.0% (73.5%–97.9%, p = 0.001). We found no facial shape difference between the different genotypes.