Hereditary angioedema (HAE) is a rare and potentially life-threatening hereditary disease. In recent years, with the country′s high emphasis on rare diseases, the diagnosis and treatment system for HAE in China has embraced unprecedented development opportunities. This article aims to review the current status of HAE diagnosis and treatment in China, including improvements in diagnostic capabilities, breakthroughs in the accessibility of targeted drugs, and the challenges faced at present. It also offers perspectives on future directions, such as innovative diagnostic approaches, clinical trials of novel therapeutic drugs, and the application of artificial intelligence, with the hope of providing references for enhancing the overall diagnosis and treatment level of HAE in China.

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent and unpredictable episodes of edema. Currently, there is no effective cure available, which seriously affects patients′ quality of life. Gene therapy intervenes in the disease at the genetic level, offering new perspectives for the treatment of HAE. This article summarizes the current research progress in gene therapy for HAE, including gene editing, transgenic therapy, and RNA therapy. It aims to draw the attention of researchers in this field, and provide references and insights for clinicians.

Hereditary angioedema (HAE) is a hereditary disease characterized by recurrent cutaneous and/or submucosal edema. In recent years, it has also been observed that patients with HAE have an increased risk of developing venous thromboembolism (VTE). By systematically reviewing relevant literature, this article aims to explore the mechanisms underlying the increased risk of VTE in patients with HAE, evaluate the impact of existing long-term prophylactic treatments on VTE occurrence in these patients, and further analyze future research directions, thereby providing references for the clinical long-term comprehensive management of HAE patients.

Background::Dermatophagoides pteronyssinus is a common allergen causing allergic diseases in China. The aim of this study was to evaluate the efficacy and safety of D. pteronyssinus extracts produced by Peking Union Medical College Hospital (PUMCH) for the skin prick test (SPT) in the diagnosis of D. pteronyssinus allergy. Methods::A total of 910 subjects with allergic diseases were prescribed D. pteronyssinus SPT and specific sIgE (sIgE) test among the Outpatients of Department of Allergy, PUMCH from August 10, 2015 to August 30, 2017. Receiver operating characteristic curve (ROC) analysis was performed according to the results of D. pteronyssinus-sIgE detection. The accuracy of D. pteronyssinus extracts used for SPT in the diagnosis of D. pteronyssinus allergy was evaluated under different cutoff values. Adverse events after SPT were recorded to evaluate safety. Results::There were 796 and 618 subjects in the full analysis set (FAS) and the per protocol set (PPS), respectively. The areas under the curve of FAS and PPS were 0.871 and 0.873, respectively. According to the ROC of PPS, the optimal and 95% specificity diagnostic cutoff values of D. pteronyssinus SPT mean wheal diameter were 3.25 and 3.75 mm, respectively. No adverse events occurred. Conclusion::The extracts of D. pteronyssinus for SPT were simple, highly accurate, and safe and should be considered for recommendation in the clinical diagnosis of D. pteronyssinus allergy.

AscreeningmethodforcriticalaminoacidsinEpitopesusinganti-Epitopeantibodywasdeveloped. The amino acids' frequency of occurrence in Epitopes of shrimp antigen Pen a1 was calculated using MEGA5 software and their conservative property of tropomyosin in SDAP database bank was analyzed using DNAMAN software. Potential critical amino acids based on these two methods were identified, namely Epitope 1 ( K, E, N) , Epitope 2 ( K, L, E) , Epitope 3 ( E, R, D, L, Q) , Epitope 5 ( K, L, Q) . The mutated polypeptides corresponding to these Epitopes in which these critical amino acids were substituted with alanine were synthesized. The IgG binding ability of these mutants was analyzed by competitive immunodot-blot method and indirect ELISA using Epitope antibody to screen the critical amino acids. Experimental results showed that the critical amino acids of the four Epitopes were as follows: Epitope 1 ( Gln ) , Epitope 2 ( Leu and Glu ) , Epitope 3 ( Leu and Asp) , Epitope 5 ( Leu) . The feasibility of this screening method was proved and it also offered a theoretical foundation for research on sensitization mechanism of Pen a1 and desensitization using gene modification.

ObjectiveTo compare X-ray,spiral CT and low does digital subtr,action angiongraphy technology of three dimensional reconstruction in 30 cases of the applications in the joint fractures,to study the application value of the digital subtraction angiography three- dimensional reconstruction in joint fracture.MethodsA retrospective analysis was made on 30 cases with joint fracture in Guangdong Provincial Guangzhou Development District Hospital,who were confirmed by the X-ray and spiral CT three-dimensional reconstruction and digital subtraction angiography three-dimensional reconstruction and the demonstrations three-dimensional reconstruction,spiral CT three-dimensional reconstruction and X-ray were compared.ResultsAll 30 cases fractures showed clear line,line of walk line,of the number of fracture,source and separation shift condition.Digital subtraction angiography could be clearly shows 30 cases in spiral CT could clearly show in 20 cases,10 cases not clearly show in,while X-ray clearly show in 10 cases,not show in 20 cases.Spiral CT showed clearly joint capsule and soft tissue.The SPSS 11.0 statistical soft package was used.Spearman correlation analysis,the single factor analysis of variance and the independent t test and the chi-square test were employed for data analysis,P ＜ 0.05 was considered statistical significance.Conclusions Digital subtraction angiography three-dimensional reconstruction can more clearly display fracture line,fracture pieces,walk line,source and separation shift condition compared with spiral CT and Xray essaminations,which is helpful for treatment options and prognosis estimation.