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.

To review the randomized controlled trials (RCTs) at home and abroad on digital intelligence (DI)-driven rehabilitation in patients of neuromuscular disease, compare the effects of DI-driven rehabilitation with traditional rehabilitation, summarize the special needs and challenges faced by patients in rehabilitation of rare neuromuscular diseases, and provide evidence for the development and quality improvement of rehabilitation for rare neuromuscular diseases.

To provide references to and give suggestions to the development and optimiza-tion of Digital Intelligence (DI) technology in management of non-hospitalized patients by systematical review the application of digital technology in non-hospital settings.

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.

Homozygous familial hypercholesterolemia (HoFH) is an extremely rare and severe hereditary lipid metabolism disorder, characterized by markedly elevated levels of plasma low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of atherosclerotic cardiovascular diseases. Among traditional lipid-lowering therapies, the combination of statins and ezetimibe is the basic treatment approach, but its efficacy is limited. In recent years, notable progress has been made in lipid-lowering therapy for HoFH. New drugs such as proprotein convertase subtilisin/kexin type 9 inhibitors and angiopoietin-like protein 3 inhibitors have demonstrated favorable LDL-C-lowering effects and play an active role in treatment. Lipoprotein apheresis can rapidly reduce LDL-C levels and has become an important adjuvant treatment modality. Although approaches like gene therapy and liver transplantation face many challenges, they offer hope for radical cure. Further research is still needed to optimize treatment strategies and regimens for more effective blood lipid management in patients with HoFH.

OBJECTIVE: To explore the clinical characteristics and prognostic factors of patients with extranasal NK/T-cell lymphoma (NKTCL). METHODS: The clinical data of 138 patients with NKTCL diagnosed in 10 medical centers of Huaihai Lymphoma Working Group from June 2015 to April 2021 were collected and analyzed retrospectively. The differences in clinicopathological characteristics of patients with different involvement and efficacy of pegaspargase regimen were compared, as well as perform survival analysis. RESULTS: A total of 138 extranasal NKTCL patients were included, with a median age of 46 years, and the ratio of males to females was approximately 2∶1. There were 39 patients with gastrointestinal involvement, 32 patients with oropharyngeal involvement, 17 patients with skin involvement, 11 patients with lymph node involvement, 11 patients with orbital involvement, and 28 patients with other parts involvement. Patients with skin involvement had a higher proportion of advanced disease and a lower proportion of CD56 positive rate compared to those with oropharyngeal involvement. Among the patients with gastrointestinal involvement, the survival rate of patients who received pegaspargase regimen was significantly higher than those who were treated without pegaspargase (P < 0.01). Multivariate analysis showed that serum creatinine was an independent prognostic factor for patients with skin involvement ( HR =1.027, 95%CI : 1.001-1.054, P =0.040), ECOG PS and EBV DNA were independent prognostic factors for patients with gastrointestinal involvement ( HR =2.635, 95%CI : 1.096-6.338, P =0.030; HR =4.772, 95% CI : 1.092-20.854, P =0.038), and ECOG PS and CA stage were independent prognostic factors for patients with oropharyngeal involvement ( HR =13.875, 95%CI : 2.517-76.496, P =0.002; HR =20.261, 95%CI : 2.466-166.470, P =0.005). CONCLUSION The clinicopathological characteristics of extranasal NKTCL patients with different sites of involvement are vary, and effective individualized treatment need to be further explored.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Asparaginase/therapeutic use* ; Lymphoma, Extranodal NK-T-Cell/pathology* ; Prognosis ; Retrospective Studies ; Survival Rate ; Polyethylene Glycols

Humans ; Consensus ; Immunoglobulin Light-chain Amyloidosis/therapy* ; Heart ; Immunoglobulin Light Chains ; China

Oral bacteria are associated with a variety of oral diseases such as caries,periodontal disease and oral cancer.Some patho-genic bacteria also play an important role in the occurrence and development of systemic diseases.The rapid identification of bacterial pathogens helps the diagnosis and precise treatment of oral diseases.Raman spectroscopy is a simple,rapid and non-invasive novel de-tection technique that can provide abundant and detailed bacterial information and can rapidly identify bacteria,but the application of this technique in oral clinical settings is still relatively rare and needs further exploration.This paper summarizes the research progress of Raman spectroscopy in the identification of oral bacteria and discusses the prospects and challenges of its clinical application.

Objective:To investigate the risk factors and long-term prognosis of major adverse cardiovascular events(MACEs) in patients with dilated cardiomyopathy (DCM).Methods:This study was a single-center retrospective cohort study. Clinical information from 300 patients with DCM hospitalized in Peking Union Medical College Hospital from April 2013 to April 2023 was collected. Based on echocardiography results, the patients were divided into two groups: isolated DCM and DCM with left ventricular non-compaction cardiomyopathy (LVNC). The MACEs, including major heart failure events, severe ventricular arrhythmias, and cardiovascular death, were recorded by outpatient or telephone follow-up. Univariate and multivariate Cox proportional hazard regression models were used to analyze the risk factors affecting the prognosis of patients with DCM. Kaplan-Meier curve and log-rank were used for survival analysis to compare the difference in the incidence of cardiovascular events between the two groups.Results:The included 300 DCM patients were (47.8±16.8) years old, with 197 males (65.7%), of which 237 (79.0%) were isolated DCM and 63 (21.0%) were DCM with LVNC. The follow-up time was 4.0 (1.9, 6.2) years. A total of 142 (47.3%) MACEs occurred, including 117 (39.0%) major heart failure events, 20 (6.7%) severe ventricular arrhythmia events, and 53 (17.7%) cardiovascular death events. Multivariate Cox proportional hazard regression analysis showed that increased left ventricular end-diastolic diameter ( HR=1.21, 95% CI: 1.01-1.44, P=0.042), moderate or severe mitral regurgitation ( HR=1.71, 95% CI: 1.19-2.47, P=0.004), increased ln (N-terminal pro-B-type natriuretic peptide) ( HR=1.30, 95% CI: 1.10-1.54, P=0.002) were independent risk factors for dverse cardiovascular events in DCM patients, and angiotensin-converting enzyme inhibitor (ACEI)/angiotensin receptor blocker (ARB)/angiotensin receptor neprilysin inhibitor (ARNI) treatment ( HR=0.45, 95% CI: 0.26-0.78, P=0.004) was independent protective factor. Kaplan-Meier survival analysis found no significant difference in the risk of MACEs between isolated DCM and DCM with LVNC ( P=0.22). Similarly, there were no significant differences in the incidence of major heart failure, severe ventricular arrhythmia, and cardiovascular death between the two groups (all P>0.05). Conclusion:An increase in left ventricular end-diastolic diameter, moderate or severe mitral regurgitation, elevated N-terminal pro-B-type natriuretic peptide, and non use of ACEI/ARB/ARNI are independent predictors of cardiovascular events in DCM patients. There was no significant risk of MACEs in patients with isolated DCM and DCM with LVNC, and suggested that LVNC may be a unique phenotype and should be accurately managed in combination with genetic background.