In the face of the new scientific and technological revolution and the transformation of medical paradigms, the field of rare disease medicine, as a cross-disciplinary emerging discipline integrating basic research, clinical practice, drug development, and policy support, is experiencing unprecedented development opportunities. This paper systematically sorts out the disciplinary connotation, construction paths and practical challenges of the Department of Rare Diseases, and puts forward countermeasures and suggestions for promoting the high-quality development of this emerging discipline in China.

The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

Medical education serves as a cornerstone for the development of healthcare systems. Since its establishment in 1921, Peking Union Medical College Hospital (PUMCH) has pioneered the first-generation medical education reform, establishing a comprehensive teaching system characterized by residency training, bedside teaching, teaching ward rounds, and clinical pathological conferences. Through generations of dedicated mentorship, the spirit of medical humanism has been deeply embedded in its educational tradition. In the context of the third-generation, competency-based medical education reform, PUMCH has taken the lead in founding the China Consortium of Elite Teaching Hospitals for Residency Education, successively issuing the Consensus on Core Competency Framework for Residency Education Among China Consortium of Elite Teaching Hospitals for Residency Education and the China Consortium of Elite Teaching Hospitals Consensus on the Competency Framework for Clinician Educators. These initiatives have facilitated the full integration ofcompetency-based concepts into curriculum design, assessment systems, and faculty development. Furthermore, PUMCH has systematically explored pathways for cultivating high-level, compound medical talents through its Clinical Postdoctoral Program. Looking ahead to the fourth-generation medical education transformation, PUMCH remains committed to its founding ethos of "clinical excellence at its core and humanism at its heart", while further advancing evidence-based teaching and artificial intelligence-enhanced medical education practices. This dual commitment not only carries forward a century-old educational legacy but also represents a timely response to the evolving landscape of global medical education reform.

Digital intelligence technology is a comprehensive technical system with data as the key element and artificial intelligence as the core driving force. It provides innovative methodological support for addressing core bottlenecks in rare disease etiology research, including sample scarcity, high-dimensional datacomplexity, intricate pathogenic mechanisms, and challenges in causal validation. This paper systematically reviews the application pathways and current implementation of digital intelligence across four major stages of rare disease research, including etiological clue mining, causal inference, mechanism analysis, and clinical translation. Furthermore, it summarizes the technical strengths, existing limitations, and developmental challenges, aiming to inform optimization of the research paradigm and promote the sustainable advancement of rare disease research.

Central hiccup frequently occurs secondary to stroke and is not solely attributed to gastric disharmony with ascending counterflow qi disturbing the diaphragm.It is also associated with post-stroke orifice obstruction with spirit concealment and failure of the spirit to guide qi.In treatment,regulating qi movement and simultaneous brain-diaphragm intervention warrant attention.The foot shaoyang gallbladder meridian interconnects the head,neck,diaphragm,and thorax through its pathway,and as a shaoyang meridian,it plays a pivotal role in coordinating qi dynamics.This study investigates the theoretical and structural foundations for treating central hiccup via the gallbladder meridian,based on meridian-viscera theory and the reflex arc of hiccup.By analyzing the meridian-viscera relationships between the gallbladder meridian and the pathological loci of central hiccup,this study elucidates its etiology and pathogenesis,proposing a gallbladder meridian-oriented therapeutic approach to provide novel clinical insights.

Objective To explore the application of serum signal transducer and activator of transcription 3(STAT3),histone deacetylase 2(HDAC2),and developmental endothelial locus-1(Del-1)levels in the evaluation of disease severity and prognosis of children with respiratory syncytial virus pneumonia(RSVP).Methods A total of 109 children with RSVP admitted to Jiamusi Central Hospital from November 2023 to March 2025 were enrolled as the RSVP group.Based on disease severity,RSVP patients were categorized into a low-risk group(n=31),a medium-risk group(n=42),and a high-risk group(n=36).According to the prognosis after 7 days of treatment,they were divided into a favorable prognosis group(n=78)and a poor prognosis group(n=31).Additionally,109 healthy children undergoing physical examination at the same hospital during the same period were selected as the normal control group(NC group).ELISA method was used to detect serum levels of STAT3,HDAC2,and Del-1.Pearson correlation analysis was used to explore the correlations between serum STAT3,HDAC2,Del-1 levels and pulmonary function indices.Multivariate logistic regression analysis was used to explore the factors affecting the prognosis of children with RSVP.Moreover,ROC curve was used to explore the predictive value of serum STAT3,HDAC2,and Del-1 levels for the prognosis of children with RSV.Results Compared with the NC group,the RSVP group had higher serum STAT3 and HDAC2 levels,and lower serum Del-1 levels(P<0.05).Serum STAT3 and HDAC2 levels progressively increased from the low-risk group,medium risk group,to high-risk group,while the time to peak ratio(time to peak tidal expiratory flow to total expiratory time ratio,TPTEF/TE),peak volume ratio(volume to peak expiratory flow to total expired volume ratio,VPEF/VE),and serum Del-1 levels progressively decreased(P<0.05).TPTEF/TE and VPEF/VE were prominently negatively correlated with serum STAT3 and HDAC2 levels,and prominently positively correlated with Del-1 levels(P<0.05).Compared with the favorable prognosis group,the poor prognosis group had significantly lower initial blood oxygen saturation,serum Del-1 levels,and significantly higher serum STAT3 and HDAC2 levels(P<0.05).High expression levels of STAT3 and HDAC2 were independent risk factors affecting the prognosis of children with RSVP,while high expression of Del-1 was an independent protective factor(P<0.05).The AUC values of serum STAT3,HDAC2,and Del-1 levels alone in predicting the prognosis of children with RSV were 0.824,0.818,and 0.842,respectively.The combined prediction AUC was 0.947,which was superior to individual predictions(ZSTAT3-joint=2.436,ZHDAC2-joint=2.570,ZDel-1-joint=2.611,all P<0.05).Conclusion Serum expression of STAT3 and HDAC2 is upregulated,while the expression of Del-1 is down-regulated in children with RSVP.The three markers are closely related to the disease severity and pulmonary function indices,and are important factors affecting the prognosis of children with RSVP.Combined detection of these markers demonstrates high efficacy for prognosis evaluation.

BACKGROUND:Virtual reality technology is a popular human-computer intelligent interaction technology in recent years,and has been widely used in leisure and entertainment,vocational training,medical rehabilitation and other fields. OBJECTIVE:To explore the potential of virtual reality technology combined with different therapies in functional recovery of patients with peripheral nerveinjury,summarize its mechanism of action,evaluate its application effects and prospects,and discuss its advantages and disadvantages,so as to provide new ideas and methods for rehabilitation practice after peripheral nerve injury.METHODS:The relevant literature of CNKI and PubMed database from inception to May 2024 was retrieved by computer. Chinese and English search terms were "peripheral nerves injury,virtual reality,endoplasmic reticulum stress,muscle atrophy,cerebral cortex,mirror therapy,tendon vibration,treadmill training." Finally,68 articles were included for analysis.RESULTS AND CONCLUSION:(1) Virtual reality technology,as a new auxiliary means,simulates the real environment to provide immersive multi-sensory experiences for patients,greatly enriching the dimensions of rehabilitation training and significantly accelerating the recovery process of patients with peripheral nerve injury. Its mechanism of action is to promote cortical plasticity through multi-sensory stimulation,invading the dormant areas adjacent to the cortex,and these areas responding to other inputs or generating new muscle activation,thereby promoting functional recovery. (2) Virtual reality technology has been widely combined with traditional therapies,showcasing its unique advantages. When combined with mirror therapy,the advantage of virtual reality is breaking the limitation of body position and advancing the time point of rehabilitation intervention. When combined with tendon vibration,virtual reality technology enhances the dual stimulation of visual and tactile perception to enhance the illusion of movement,significantly improving the perception and motor ability of patients,but also raises the issue of increased perception of limb weight. In running machine training,virtual reality technology further leverages its advantages by simulating real-life environments through multi-sensory stimulation to enhance balance and walking function,but problems such as motion sickness still exist. (3) Therefore,in actual applications,due to the fact that virtual reality combined with mirror therapy and tendon vibration will enhance the illusion of movement for patients,it is more suitable for early stages of rehabilitation. Meanwhile,the combination of virtual reality and treadmill training is suitable for the later stage of rehabilitation,helping patients to better return to their daily lives. (4) Although virtual reality technology has shown great potential in peripheral nerve injury rehabilitation,there are still some problems and challenges,such as motion sickness,the design and application of virtual reality rehabilitation games,and ethical considerations. Future research should focus on solving these problems to further promote the development of virtual reality technology in the field of rehabilitation.

Acute intermittent porphyria(AIP)is a rare autosomal dominant disorder caused by reduced activity of hydroxymethylbilane synthase(HMBS),or porphobilinogen deaminase(PBGD),the third enzyme in the heme biosynthesis pathway,with very low penetrance.AIP mainly affects women and is triggered by vari-ous factors,leading to acute neurovisceral symptoms such as abdominal pain,nausea and vomiting,intestinal obstruction,constipation,and in severe cases,epilepsy,weakness of the limbs,and psychiatric disturbances.Recurrent attacks may result in chronic injuries.Due to nonspecific symptoms and limited clinical awareness,AIP is often misdiagnosed,contributing to high morbidity and mortality.To standardize diagnosis and treatment practices,the Chinese Society of Rare Diseases,in collaboration with the Study Group of Endocrinology Rare Diseases,the Chinese Society of Endocrinology,and the Chinese Pharmacists Association Rare Diseases Medi-cation Working Committee,developed the Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China(2024).This consensus was based on a review of 116 relevant studies,with a professional panel of 27 experts using the Delphi method to reach agreement on 23 key recommendations,aiming to guide standardized clinical practice in the diagnosis,treatment,evaluation,and prevention of AIP.

The major obstacle to optimizing the design of rare disease coverage is the fragmented decision-making process among medical services, pharmaceuticals, and medical insurance departments. There is an urgent need to realize data sharing and digital empowerment, as well as to adopt top-level design and systematic decision-making. It is also crucial to establish mechanisms, facilitated by digital intelligence, for sharing power and responsibilities, and assessing rewards and punishments. Furthermore, there is an urgent need to incorporate the theories of collaborative governance, digital governance, and the full life cycle into the entire process, which includes patient classification, diagnosis and treatment, medical assistance, medication protection, and health insurance fund management for rare diseases. This integration aims to provide theoretical reference for the effective linkage of medical services, pharmaceuticals, and medical insurance, and to improve the efficiency and equity of resource allocation in the public sector.

To summarize the applications of data-intelligence technology in diagnosing lysosomal storage disease(LSD), analyze their opportunities and challenges in clinical practice as well as their development trends, and provide insights and recommendations for advancing digitally driven auxiliary diagnostic technologies.