Rare diseases are mostly genetic disorders that often manifest in childhood, characterized by severe conditions, difficulties in diagnosis and treatment, and poor homogeneity in clinical management. Clinical research on rare diseases contributes to enhancing the diagnosis and treatment capabilities for rare diseases in China and promotes the development of rare disease medicine. Clinical research on rare diseases in China started relatively late, and there is currently no mature and comprehensive system for clinical research on rare diseases. This article analyzes the current state of clinical research on rare diseases in China, identifies existing problems and research difficulties, and proposes ideas and key measures for the construction of China’s clinical research system on rare diseases, aiming to provide opinions and suggestions for the construction of China’s clinical research system on rare diseases.
Complement 1 esterase inhibitor (C1-INH) is a serine protease inhibitor, which is an important regulatory substance in the plasma cascade reaction and can regulate the complement system and bradykinin-forming system. hereditary angioedema (HAE) is a rare autosomal dominant inherited disease, mainly caused by a mutation of the gene controlling the synthesis of C1-INH resulting in reduced or dysfunctional levels of C1-INH in patients. C1-INH substitution therapy is one of the main therapeutic strategies for controlling HAE attacks. This article mainly collates and analyzes related research literature, summarizes the progress of C1-INH treatment of HAE, and provides some references for clinicians to treat HAE.
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 are a collective term for a category of diseases with extremely low incidence or prevalence rates. They are characterized by a variety of diseases, difficult diagnosis, complex conditions, etc. Only about 5% of rare diseases have treatment drugs. They impose a heavy burden on society and the families of rare diseases patients, and are a major global challenge. Rare diseases medical talents are an important component of the development of the rare diseases industry. After years of practical exploration, the construction of rare diseases medical talent training systems at home and abroad has gradually achieved results. This article analyzes the current situation of medical talent cultivation in the field of rare diseases, and proposes thoughts and suggestions for the cultivation of rare diseases medical talents in China, providing reference for the construction of the rare patient talent system.
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.
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-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.
Objective To sort out the policies related to rare diseases in China, analyze and summarize the focus and potential problems of relevant policy texts, and provide decision-making references for the subsequent formulation and improvement of policies in the field of rare diseases in China. Methods We searched for relevant policy documents in the field of rare diseases at the national level from 2018 to 2023, constructed a three-dimensional analysis framework based on content analysis of “policy tool-stakeholder-policy strength” in the field of rare diseases in China, and conducted cross-analysis between policy tools, stakeholders, and policy strength. Results Finally, 39 policy texts were included. There were 112 policy tool dimension codes, with environment-based, supply-based, and demand-based tools accounting for 62.5%, 30.36%, and 7.14%, respectively. There were 229 stakeholder dimension codes, including 42.79% for government departments, 19.65% for medical institutions, 19.65% for corporate units, and 17.90% for patients and their families. The average score for policy strength was 2.2 points. Cross-analysis showed that government departments had the highest proportion in the dimensions of supply-based, environment-based and demand-based tools (45.76%, 43.45%, 32.00%, respectively). The policy strength of environmental tools was the strongest (124 points). The policy strength of government departments was the strongest (78 points). Conclusions There is a certain imbalance in the design and configuration of rare disease policy tools in China, and there is uneven distribution of rare disease policies among stakeholders. Although the overall effectiveness of policies in the field of rare diseases is showing a positive growth trend, there may be a mismatch between policy tools, stakeholders, and policy strength.
ObjectiveTo analyze the application effects of artificial intelligence (AI) software and Mimics software in preoperative three dimensional (3D) reconstruction for thoracoscopic anatomical pulmonary segmentectomy. MethodsA retrospective analysis was conducted on patients who underwent thoracoscopic pulmonary segmentectomy at the Second People's Hospital of Huai'an from October 2019 to March 2024. Patients who underwent AI 3D reconstruction were included in the AI group, those who underwent Mimics 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 statistical differences in gender, age, smoking history, nodule size, number of lymph node dissection groups, postoperative pathological results, or postoperative complications among the three groups (P>0.05). There were statistical 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 statistical differences in operation time, extubation time, bleeding volume, or postoperative hospital stay between the AI group and the Mimics group (P>0.05). There was no statistical difference in drainage volume between the AI group and the control group (P=0.494), while there were statistical differences in operation time, drainage tube retention time, bleeding volume, and postoperative hospital stay (P<0.05). ConclusionFor patients requiring thoracoscopic anatomical pulmonary segmentectomy, 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.
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.