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.

Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China. However, the emerging challenges in clinical diagnosis and treatment of rare diseases make it unable for data and resource platform to fully meet the diversified needs. Under this backdrop, we have developed a protocol to optimize and upgrade the system based on the core functions of the NRDRS platform. The goal is to leverage intelligent digital technologies to transform NRDRS into a new platform integrating multimodal data and auxiliary diagnostic and treatment functions. It is specified as the development and construction of "one platform and four intelligent tools." Currently, we have upgraded and developed NRDRS platform, intelligent tool for genotype-phenotype analysis of rare diseases, AI-assisted diagnostic tool for rare diseases, remote multidisciplinary diagnosis and teaching tool for rare diseases, drug screening and validation tool for rare diseases. The next step will focus on the promotion of the application of these tools in clinical settings in order to address the issue of severe imbalance in the allocation of resources for the diagnosis and treatment of rare diseases. This article provides an overview of the digital and intelligent upgrades of the NRDRS, the trials in applications in clinical settings, and direction in the future.

Objective Based on the Ancient and Modern Medical Case Cloud Platform V2.3.7,analyze the medication pattern and mechanism of action of Chinese medicines commonly used in famous medical cases for the treatment of Alzheimer's disease(AD).Methods The core Chinese medicines for AD were screened according to the inclusion and exclusion criteria by searching the famous Chinese medicine cases in the platform,then established the disease-core Chinese medicines-active ingredients-common targets network.The protein-protein interaction network(PPI)was established through the common targets.Gene oncology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses were performed by David platform.Molecular docking and dynamics simulations were employed to evaluate the binding affinity and stability between key targets and active ingredients.Results Data mining was performed on all the famous medical cases from the time of database construction to October 2023,and the results were summarized as follows.The high-frequency regulating Qi medications and tonifying Qi medications were Citri Reticulatae Pericarpium and Aurantii Fructus Immaturus;Panax ginseng,Ziziphi Jujubae Fructus,Codonopsis pilosula,Astragali Radix,Atractylodis Macrocephalae Rhizoma,Dioscoreae Rhizoma,and Glycyrrhizae Radix et Rhizoma.The core herbs contained 778 active ingredients and 377 targets;1986 disease targets;79 common targets were obtained after intersection with AD targets,and 7 core targets were identified through PPI network topology analysis,including TNF,AKT1,TP53,PPARG,etc.GO and KEGG pathway enrichment analyses confirmed that the targets of the active ingredients of the core herbs involved 138 pathways,and the core herbs could regulate chemical carcinogenesis-receptor activation、serotonergic synapse、chemical carcinogenesis-reactive oxygen species pathways to treat AD.Molecular docking and molecular dynamics simulation results showed good binding ability and stability between the key targets and the core components.Conclusion Through data mining to analyze the core herbs for the treatment of AD,the present investigation showing the pharmacological mechanism of 12-O-Nicotinoylisolineolone and Odoratin in the treatment of Alzheimer's disease at the molecular level,lay a certain theoretical foundation of 12-O-Nicotinoylisolineolone and Odoratin in the future.

Objective:To investigate the impact of receptor-interacting protein kinase 3 (RIPK3) on major adverse cardiovascular events (MACE) in patients with acute myocardial infarction (AMI) after percutaneous coronary intervention (PCI), as well as the predictive performance of RIPK3 combined with traditional cardiovascular risk factors.Methods:This study was a single-center prospective cohort study. It included patients with AMI who underwent PCI at Peking Union Medical College Hospital between September 2017 and November 2017. Baseline clinical data were collected, and plasma samples were obtained 6 hours after PCI to measure RIPK3 levels. Follow-up was conducted via outpatient visits or phone calls to record the occurrence of MACE, including cardiovascular death, hospitalization for heart failure, and vascular events (recurrent AMI or stroke). The predictive performance of RIPK3, traditional cardiovascular risk factors and their combination for MACE was compared using receiver operating characteristic (ROC) curves. Patients were divided into low- and high-RIPK3 level groups based on the optimal cutoff value of RIPK3. Multivariate Cox proportional hazards regression analysis was used to assess the impact of RIPK3 levels on MACE after PCI in AMI patients. Kaplan-Meier survival curves were plotted, and the log-rank test was used to compare MACE incidence between the low-and high-RIPK3 groups.Results:A total of 103 AMI patients who underwent PCI were included, aged 63.0 (56.0, 69.0) years, and 83 (80.6%) were male. The follow-up time was 5.17 (2.81, 5.17) years, during which 44 patients (42.7%) experienced MACE. The ROC curve analysis showed that the area under the curve ( AUC) for traditional cardiovascular risk factors was 0.68 (95% CI: 0.58-0.78), while the AUC for plasma RIPK3 was 0.72 (95% CI: 0.62-0.82). The combined AUC for traditional risk factors and RIPK3 was 0.75 (95% CI: 0.65-0.85). Multivariate Cox proportional hazards regression analysis indicated that plasma RIPK3 level is greater than or equal to the optimal cutoff value of 440.9 μg/L ( HR=3.31, 95% CI: 1.53-8.30, P=0.005) was an independent risk factor for MACE in AMI patients after PCI. Kaplan-Meier survival analysis demonstrated that the high-RIPK3 group had a significantly higher risk of MACE after PCI compared to the low-RIPK3 group (log-rank P=0.006). Conclusions:Elevated plasma RIPK3 level is an independent risk factor for MACE in AMI patients after PCI. Plasma RIPK3 combined with traditional cardiovascular risk factors can more effectively predict the occurrence of MACE in AMI patients after PCI. AMI patients with RIPK3≥440.9 μg/L have a higher risk of MACE after PCI.

Autoimmune uveitis is a blinding intraocular inflammation primarily caused by immune dysregulation mediated by CD4+ T cells. CD4+ T cells differentiate into various functional subsets, including Th1, Th2, Th17, and Treg cells. These subsets participate in immune responses and mediate the initiation and resolution of inflammation by secreting different cytokines. This article primarily focuses on the functional characteristics and interplay network of Th1/Th2 and Th17/Treg cells, along with the specific effects of their key secreted cytokines(e.g., IFN-γ, TNF-α, IL-17, IL-10, TGF-β)in driving or suppressing ocular inflammation. The goal is to clarify the fundamental pathogenesis of this disease from the perspective of immune balance. Furthermore, this work explores potential therapeutic targets based on restoring the balance between Th1/Th2 and Th17/Treg, such as modulating the differentiation of specific subsets, blocking key pro-inflammatory cytokines, or enhancing anti-inflammatory functions. This investigation aims to provide a scientific rationale and guidance for optimizing existing diagnostic and therapeutic strategies, as well as developing new immunotherapies(e.g., biological agents, cell therapies).

Soil cadmium pollution can adversely affect the cultivation of the ornamental plant, Coleus scutellarioides. Upon cadmium contamination of the soil, the growth of C. scutellarioides is impeded, and it may even succumb to the toxic accumulation of cadmium. In this study, we investigated the effects of arbuscular mycorrhizal fungi (AMF) on the adaptation of C. scutellarioides to cadmium stress, by measuring the physiological metabolism and the degree of root damage of C. scutellarioides, with Aspergillus oryzae as the test fungi. The results indicated that cadmium stress increased the activity of superoxide dismutase (SOD), peroxidase (POD), and catalase (CAT), and the content of malondialdehyde (MDA) and proline (Pro) within the cells of C. scutellarioides, but inhibited mycorrhizal infestation rate, root vigour and growth rate to a great degree. With the same cadmium concentration, the inoculation of AMF significantly improved the physiological indexes of C. scutellarioides. The maximum decrease of MDA content was 42.16%, and the content of secondary metabolites rosemarinic acid and anthocyanosides could be increased by up to 27.43% and 25.72%, respectively. Meanwhile, the increase of root vigour was as high as 35.35%, and the DNA damage of the root system was obviously repaired. In conclusion, the inoculation of AMF can promote the accumulation of secondary metabolites, alleviate root damage, and enhance the tolerance to cadmium stress in C. scutellarioides.
Cadmium/toxicity* ; Mycorrhizae/physiology* ; Plant Roots/drug effects* ; Soil Pollutants/toxicity* ; Stress, Physiological ; Superoxide Dismutase/metabolism*

Objective:Committee of Minimally Invasive Cardiovascular Surgery(CMICS) conducts an annual summary of minimally invasive cardiovascular surgery procedures performed throughout the country, which includes a comprehensive survey of the total number of minimally invasive procedures by region and the distribution of minimally invasive procedures by hospital. Since CMICS first published the 2018-2019 China Minimally Invasive Cardiovascular Surgery Data White Paper in 2020, the report has received great attention from peers within and outside the industry. In this statistical report, CMICS will focus on publishing the data related to minimally invasive cardiovascular surgery in China from 2021 to 2023 for reference and use by industry peers.

Objective:To explore the application effect of comfort-based light sedation strategy nursing model in early rehabilitation exercises for critically ill patients after gastrointestinal surgery, aiming to provide a reference for the recovery of patients after gastrointestinal surgery.Methods:A randomized controlled trial was conducted using purposive sampling to select 110 critically ill patients who underwent gastrointestinal surgery from July 2022 to December 2023 in the Department of Critical Care Medicine of Shantou Central Hospital. Patients were randomly assigned into the control group and the observation group, with 55 cases in each group. The control group received routine sedation care, while the observation group adopted a comfort-based light sedation strategy nursing model. The NRS (Digital Rating Scale for Pain), RASS (Rationalizing Self-Assessment Scale), SAS (Self-Rating Anxiety Scale), analgesic and sedative drug usage, postoperative bowel sounds, flatus, and defecation onset time, ICU length of stay, delirium incidence, postoperative 24-hour MRC muscle strength score, and discharge Modified Barthel Index (MBI) scores were compared between the two groups at 8 hours, 24 hours, 48 hours, 72 hours, and 96 hours postoperatively.Results:During the study, 5 cases dropped out from both the observation and control groups, leaving 50 cases each complete. The control group consisted of 32 males and 18 females, with an average age of (66.94 ± 14.39) years; the observation group consisted of 34 males and 16 females, with an average age of (68.01 ± 14.76) years. At 8, 24, 48, 72, 96 hours postoperatively, the NRS scores for the observation group were (3.11 ± 0.58), (3.14 ± 0.53), (3.09 ± 0.56), (2.97 ± 0.50), and (2.48 ± 0.45), respectively, were all lower than those of the control group (3.55 ± 0.61), (3.46 ± 0.59), (3.42 ± 0.62), (3.38 ± 0.54), (2.87 ± 0.53), with statistically significant differences ( t values were 2.80 - 3.97, all P<0.05). The RASS scores at postoperative 8, 24, 48, 72, 96 hours were (- 1.42 ± 0.43), (- 1.41 ± 0.42), (- 1.39 ± 0.44), (- 1.36 ± 0.41), (- 1.32 ± 0.40) respectively, compared to the control group (- 1.85 ± 0.47), (- 1.78 ± 0.44), (- 1.81 ± 0.50), (- 1.80 ± 0.48), (- 1.68 ± 0.45), with statistically significant differences ( t values were 4.23 - 4.93, all P<0.05). The SAS scores at postoperative 48, 72, 96 hours were (49.68 ± 4.55), (48.69 ± 4.41), (46.71 ± 4.33) respectively, compared to the control group (53.75 ± 4.76), (53.13 ± 4.69), (52.84 ± 4.51), with statistically significant differences ( t = 4.37, 4.89, 6.93, all P<0.05); the propofol dosage in the observation group (3 228.52 ± 587.78) mg and the dexmedetomidine dosage (1 205.58 ± 311.46) μg were all lower than those of the control group (4 056.77 ± 638.04) mg and (1 650.77 ± 432.69) μg, with statistically significant differences ( t = 6.75, 5.92, both P<0.05). The start time of bowel sounds in the observation group was (18.63 ± 5.96) hours, the start time of flatus was (1.42 ± 0.57) days, and the start time of defecation was (2.02 ± 1.25) days. The ICU hospitalization duration of the observation group (5.54 ± 1.51) days was shorter than that of the control group (7.36 ± 1.89) days, with differences being statistically significant ( t values were 2.71 - 5.32, all P<0.05). The postoperative delirium incidence rate of the observation group was 8.00% (4/50) lower than that of the control group 24.00% (12/50), with differences being statistically significant ( χ2 = 4.76, P<0.05). The postoperative 24-hour MRC muscle strength score (5.34 ± 0.58) and the discharge MBI score (77.56 ± 11.34) in the observation group were both significantly higher than those of the control group (4.79 ± 0.65) and (68.25 ± 10.47), respectively ( t = 4.46, 4.27, both P<0.05). Conclusions:The comfort-oriented light sedation strategy nursing model can improve the postoperative sedation and analgesia effects for ICU gastrointestinal surgery patients, promote gastrointestinal function recovery, shorten ICU hospital stay, reduce delirium incidence, and accelerate patient postoperative recovery.

Trigeminal neuralgia is characterized by intense pain in the sensory distribution area of the trigeminal nerve. It can be triggered by non-noxious stimuli such as brushing teeth and washing face. At present, the treatment of trigeminal neuralgia mainly includes oral drugs and surgical treatments. A 92-year-old patient with trigeminal neuralgia was reported. The pain could not be alleviated because the patient was unable to tolerate the side effects of drugs and surgical treatment. Taking into account the onset time and the duration of the curative effect, botulinum toxin type A was combined with cobrotoxin for the treatment of the patient. As a result, the pain symptoms were rapidly alleviated and remained in a relieved state for 8 months. The clinical characteristics of this patient were summarized in this article, and the possible synergistic mechanisms of action of the 2 drugs were discussed. The ultimate objective is to furnish a broader spectrum of alternatives and references for clinical practice.

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.