Rare diseases are a kind of diseases with very low incidence and prevalence. They are difficult to diagnose, treat and use drugs. Multi-disciplinary team (MDT) has become the main mode of modern medical diagnosis and treatment. Many hospitals at home and abroad have begun to apply MDT in the diagnosis and treatment of rare diseases. This paper introduces the MDT mode of rare diseases at home and abroad, focusing on the mode, work flow and content of the MDT service system for rare diseases in West China Hospital of Sichuan University, and discusses the problems and optimization suggestions of the current construction of the MDT service system for rare diseases. The purpose is to provide some reference for the establishment of MDT model of rare diseases in China.
Rare diseases have problems with low number of cases, low social awareness, and long time of diagnosis. “Targeted doctor” is the first step to help rare disease patients start the correct path of diagnosis and treatment. This article introduces the design of a decision-making engine for patients with rare diseases by constructing a knowledge graph of rare diseases and experts, using an intelligent question-and-answer system, and combining big data and artificial intelligence methods. This engine can perform rare disease pre-screening based on patient portraits and other information, and recommend the best visiting route to patients, thereby improving the efficiency of rare disease patients’ medical service system and enhancing the decision-making ability of rare diseases.
In 2021, West China Hospital of Sichuan University established a rare disease diagnosis and treatment and research center. The center adopts the rare disease management model of “one cohesion + four integration”, condenses the core of management, integrates clinical resources, regional alliance resources, training resources and research resources, and explores solutions for all-round services for patients with rare diseases. This article aims to explore the rare disease management model of regional central hospitals and introduces the above-mentioned rare disease management model. The purpose of this article is to promote this model, focus on the advantages of clinical departments and research institutes (offices), increase regional integration, give play to the synergy of regional alliances in clinical diagnosis and treatment and personnel training, and use international cooperation as an opportunity to promote breakthroughs in new drugs and technologies for rare diseases to benefit patients with rare diseases in China.
ObjectiveTo analyze the application effects of artificial intelligence (AI) software and Mimics software in preoperative three-dimensional (3D) reconstruction for thoracoscopic anatomical lung segment resection. MethodsA retrospective analysis was conducted on patients who underwent thoracoscopic lung segment resection surgery at the Second People's Hospital of Huai'an from October 2019 to March 2024. Patients who underwent AI software 3D reconstruction were included in the AI group, those who underwent Mimics software 3D reconstruction were included in the Mimics group, and those who did not undergo 3D reconstruction were included in the control group. Perioperative related indicators of each group were compared. ResultsA total of 168 patients were included, including 73 males and 95 females, aged 25-81 (61.61±10.55) years. There were 79 patients in the AI group, 53 patients in the Mimics group, and 36 patients in the control group. There were no statistically significant differences in gender, age, smoking history, nodule size, number of lymph node dissection groups, postoperative pathological results, and postoperative complications among the three groups (P>0.05). There were statistically significant differences in operation time (P<0.001), extubation time (P<0.001), drainage volume (P<0.001), bleeding volume (P<0.001), and postoperative hospital stay (P=0.001) among the three groups. There were no statistically significant differences in operation time, extubation time, bleeding volume, and postoperative hospital stay between the AI group and the Mimics group (P>0.05). There was no statistically significant difference in drainage volume between the AI group and the control group (P>0.05). ConclusionFor patients requiring thoracoscopic anatomical lung segment resection, preoperative 3D reconstruction and preoperative planning based on 3D images can shorten the operation time, postoperative extubation and hospital stay, and reduce intraoperative bleeding and postoperative drainage volume compared with reading CT images only. The use of AI software for 3D reconstruction is not inferior to Mimics manual 3D reconstruction in terms of surgical guidance and postoperative recovery, which can reduce the workload of clinicians and is worth promoting.
Objective To explore effectiveness of arthroscopic Eden-Hybinette procedure with Triple-Pulley and four point anti-rotation fixation technique in the treatment of recurrent anterior dislocation of shoulder joint. Methods A clinical data of 14 patients with recurrent anterior dislocation of shoulder joint and glenoid bone defect, who were met the selective criteria and admitted between February 2021 and February 2022, was retrospectively analyzed. All patients were treated with arthroscopic Eden-Hybinette procedure and the bone blocks were fixed by using Triple-Pulley and four point anti-rotation fixation technique. There were 9 males and 5 females with an average age of 31.2 years (range, 22-40 years). Shoulder dislocation occurred 4-10 times (mean, 6.8 times). The time from the initial dislocation to the admission was 1-6 years (mean, 3.3 years). The Instability Severity Index Score (ISIS) was 7.2±0.8, the Beighton score was 2.9±2.4, and the width ratio of glenoid bone defect was 26.64%±1.86%. Pre- and post-operative visual analogue scale (VAS) score, the University of Califonia at Los Angeles (UCLA) shoulder score, Constant score, and American Association of Shoulder and Elbow Surgeons (ASES) score were used to evaluate shoulder pain and function. The position, healing, resorption, and remodeling (glenoid area) of the bone blocks were evaluated by CT of shoulder joint. ResultsAll patients underwent surgery successfully without any serious complications. All patients were followed up 11.5-13.8 months (mean, 12.0 months). The VAS scores of shoulder joint after operation decreased compared to preoperative levels, while the UCLA score, Constant score, and ASES score all increased, with significant differences (P<0.05). And with the prolongation of time, the above indicators further improved, and the differences between different time points were significant (P<0.05). Imaging reexamination showed that the bone block completely filled the glenoid defect, with good position and no significant displacement. Over time, the bone block healed and partially absorbed and remodelled. The postoperative glenoid area increased significantly compared to preoperative area (P<0.05). With the prolongation of time, the glenoid area significantly decreased, but the difference was not significant between different time points (P>0.05).Conclusion For the recurrent anterior dislocation of shoulder joint, Triple-Pulley and four point anti-rotation fixation technique in Eden-Hybinette procedure can effectively prevent bone rotation, make fixation more reliable, and easy to operate and achieve good effectiveness.
At present, there are some problems in the post-diagnosis service of rare diseases, such as immature service path, imperfect health supervision and discontinuous to post-diagnosis data flows. How to properly solve these problems and find a way to promote the post-diagnosis service of rare diseases is the focus now. Based on the actual situation of diagnosis and treatment of patients with rare diseases in West China Hospital of Sichuan University and literature. This paper finds that making full use of the method of intelligent continuous management, establishing a continuous health management system, and integrating rare disease data information through intelligent health management platform and internet medical treatment can alleviate the shortage of medical resources and solve the dilemma of post-diagnosis service of rare diseases. At the same time, this paper analyzes the dilemma of post-diagnosis services of rare diseases and the feasible countermeasures of intelligent medical assistance management, and explores the management of rare diseases led by tertiary hospitals and joint built by medical units of the hospital alliance, in response to the national graded diagnosis and treatment policy, so as to provide all-round health protection for patients with rare diseases for reference and learning.
National Comprehensive Cancer Network (NCCN) has updated and released the latest content of NCCN guidelines version 1. 2023 thymomas and thymic carcinomas (known as "guidelines"). The guideline sets standards for the diagnosis and treatment of thymoma and thymic carcinoma based on high quality clinical evidence and the latest advances in research. There have been some updates and revisions in the latest two versions of the guidelines, mainly focusing on the principles of radiotherapy, the principles of systematic therapy, multidisciplinary participation and the improvement of some footnotes, compared with the first version of the guidelines in 2022. In this paper, the contents of the new guideline will be interpreted in order to provide reference for the work of thymoma and thymic carcinoma in our country at the present stage.