Objective:To assess health-related quality of life and disease burden of Chinese Phenylketonuria(PKU)patients and inform optimized management and support strategies.Methods:A cross-sectional survey is conducted to explore questionnaires.The Delphi method was applied to form a standardized questionnaire.Results:A total of 263 valid questionnaires were collected.The average patient age was 7.6 years.Younger patients reported better quality of life.Mean total medical cost per patient was 238 461.9 yuan,exceeding the 2024 national per capita disposable income.Conclusion:PKU patients are facing significant challenges in both quality of life and economic burden.

Objective:To assess health-related quality of life and disease burden of Chinese Phenylketonuria(PKU)patients and inform optimized management and support strategies.Methods:A cross-sectional survey is conducted to explore questionnaires.The Delphi method was applied to form a standardized questionnaire.Results:A total of 263 valid questionnaires were collected.The average patient age was 7.6 years.Younger patients reported better quality of life.Mean total medical cost per patient was 238 461.9 yuan,exceeding the 2024 national per capita disposable income.Conclusion:PKU patients are facing significant challenges in both quality of life and economic burden.

Objective:To explore the survival status and economic burden of disease for patients with Cryopyrin Associated Periodic Syndrome(CAPS)in China.Methods:From August 2023 to February 2024,a questionnaire survey was conducted on patients who volunteered to participate.The survey included patients'sociodemographic characteristics,current medical treatment status,disease economic burden and life quality.Results:A total of 35 valid questionnaires were collected.The average age of onset for the patients was 5.67 years,and the average duration from onset to confirmed diagnosis was 7.63 years.The average total medical cost per person in the past 12 months was 82 532.79 yuan,which is significantly higher than the national per capita disposable income of China in 2023.Conclusion:CAPS has an early onset and a long duration until diagnosis,with treatment primarily symptomatic,resulting in a heavy disease burden for patients and their families.

Objective:To explore the survival status and economic burden of disease for patients with Cryopyrin Associated Periodic Syndrome(CAPS)in China.Methods:From August 2023 to February 2024,a questionnaire survey was conducted on patients who volunteered to participate.The survey included patients'sociodemographic characteristics,current medical treatment status,disease economic burden and life quality.Results:A total of 35 valid questionnaires were collected.The average age of onset for the patients was 5.67 years,and the average duration from onset to confirmed diagnosis was 7.63 years.The average total medical cost per person in the past 12 months was 82 532.79 yuan,which is significantly higher than the national per capita disposable income of China in 2023.Conclusion:CAPS has an early onset and a long duration until diagnosis,with treatment primarily symptomatic,resulting in a heavy disease burden for patients and their families.

This article combs and summarizes the entire process of rare disease selection and priority theme determination,including the application and preliminary review of rare diseases,standardization of disease theme information,the evaluation methods of evidence sorting and disease selection for priority se-lection of disease themes,and other aspects of the content were analyzed in depth.It is expected to provide reference for the subsequent selection of rare diseases,improve the fairness,rationality and scientificity of rare disease selection,and further promote research and decision-making in China's rare disease-related fields.

The National Health Commission of the People′s Republic of China and six other departments jointly released the Second Catalog of Rare Diseases, which expanded the definition of rare diseases in China. The expansion of the catalog means greater attention to rare diseases at the national level, and is also expected to accelerate the launch of relevant rare disease drugs and benefit more rare disease patients. When the new rare disease catalog released, it is necessary to quickly sort out the availability of drugs and find out the base number for the advancement of subsequent relevant measures. This paper searched official medical information websites and medical databases such as the National Medical Products Administration (NMPA), the Center for Drug Evaluation (CDE), and foreign drug regulatory agencies, and sorted out and summarized the subject categories of diseases included in the Second Catalog of Rare Diseases, the corresponding global research and development and implementation of drugs, as well as the medical insurance access situation in China, elaborates on the differences in the accessibility of orphan drugs at home and abroad. As China′s prevention, treatment and protection of rare diseases has reached a new point, plans and prospects are made for the introduction of relevant policies in the future, as well as the promotion of research and development and protection and other key tasks.

Objective:Detect the gut microbiota change in mice caused by 10 ％ short-chain inulin addition in high fat diet condition.Methods:8-week-old male C57/B6J mice,5 mice were fed with high fat diets,5 mice were fed with high fat diets with 10 ％ short-chain inulin addition.Fed 8 weeks and then collected fresh feces.Detected the three main short chain fatty acids in fresh feces.Extracted gut bacteria genome DNA for 16S rRNA V4 region sequencing.Principal Coordinate Analysis (PCoA),Alpha diversity and LEfSe analysis were performed to detect gut microbiota changes induced by short chain inulin.Results:Gut bacterial DNA amount and SCFAs amount per gram feces increased.PCoA analysis demonstrated fecal microbiota from inulin and control group mice had distinctive different features and clustered well.Inulin group owned lower fecal microbiota diversity compared with control group.LEfSe analysis revealed that in family level,Ｓ24_7 increased,Deferribacteraceae,Lachnospiraceae and Ruminococcaceae decreased.PICRUSt predicted that 22 level 2 KEGG Orthology groups changed.Conclusions:Inulin addition altered the gut microbiota composition in mice in high fat diet condition and impact the gut microbiota gene function.