OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

ObjectiveThis paper aims to observe the syndrome improvement and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome）. MethodsThrough a multi-center randomized controlled methodology design，confirmed influenza cases were collected from October 2022 to April 2023 in the pediatrics department of eight hospitals，such as Dongfang Hospital of Beijing University of Chinese Medicine. A total of 180 children with influenza and heat accumulation in the lung and stomach syndrome conforming to the standard were recruited through the clinic. The sick children meeting the inclusion criteria were randomly divided into groups by a block-randomized method. The children in the experimental group were treated with Qingxuan Daozhi formula for five days，and those in the control group were treated with Oseltamivir Phosphate Granules for five days. The primary efficacy indicator was the negative conversion rate of influenza antigen detection. Secondary efficacy indicators were the Canadian acute respiratory illness and flu scale （CARIFS） and the incidence of complications，severe cases， and critical cases. Follow-up observation was conducted on the day of enrollment，48 hours after medication，72 hours after medication， and （6+1） d after medication. ResultsOne hundred and eighty participants were randomly assigned to the experimental group （90 cases） or the control group （90 cases）. All participants were followed up during the study. Comparison of influenza antigen detection results in the primary efficacy indicators showed that the average time of negative influenza antigen conversion in the experimental group was （5.29±1.25） d，and that in the control group was （5.40±1.68） d，without a statistically significant difference. After five days of intervention，52 cases in the experimental group and 51 cases in the control group converted to negative，without a statistically significant difference. CARIFS score results in the secondary efficacy indicators showed that during 72 hours after intervention，there were statistically significant differences between the experimental group and the control group in three dimensions， including headache，muscle soreness， and the need for extra care （P<0.05）. On the （6+1） days after the intervention，the differences in both the experimental group and the control group were statistically significant in 10 dimensions， including sore throat，bad sleep，uncomfortable feeling，poor spirit and fatigue，crying more than usual，the need for extra care，symptom，function，influence on parents，and total score （P<0.05）. The comparison results within the group in the dimensional scores of symptom， function， and influence on parents，as well as the CARIFS total score showed that with the delay of follow-up time，scores of both groups decreased significantly，with a statistically significant difference （P<0.01）. Inter-group comparison results showed that the mean score of the experimental group was higher than that of the control group at the time of enrollment. With the progress of intervention，the score of the experimental group was significantly decreased compared with that of the control group. At the end of follow-up，the mean score of the experimental group was lower than that of the control group，with no statistically significant difference. In terms of the incidence of complications，severe cases， and critical cases， there were no complications，severe cases， and critical cases in the two groups，without a statistically significant difference. ConclusionThe symptom improvement effect and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome） are not inferior to Oseltamivir Phosphate granules， and children's acceptance is better. It can be more widely used in clinical treatment of influenza in children （heat accumulation in the lung and stomach syndrome）.

Objective: Scutellarin in Shuganning injection has potential allergenicity and is prone to causing anaphylactoid reactions. There is an urgent need to establish a simple and rapid chromatographic quantitative method to achieve the limit control of scutellarin in Shuganning injection.
Methods: For scutellarin, HPLC method was used in the quantitative analysis using a Shim-pack GIS C₁₈ (2.1 mm×150 mm, 5 μm) column. The mobile phase was a blend of 0.1% trifluoroacetic acid in water and acetonitrile, and gradient elution progress was applied for the whole process. The flow rate was 0.3 mL·min^-1 and the column temperature was maintained at 37 ℃. The detecting wavelength was 320 nm.
Results: The linear regression equation was y=51 456x-27 352, the correlation coefficient r=0.999 8, namely the calibration curve was linear in the range of 1.02-102.00 μg·mL^-1; the average recovery was 103.76%; the detection and quantification limit for determining scutellarin was 0.16 μg·mL^-1 and 0.57 μg·mL^-1, respectively; the injection sample was stable at room temperature for 48 h.
Conclusion: This method is easy to operate, reproducible and has high accuracy, thus can be used for quality control of Shuganning injection.

To understand the progress of, summarize experiences from, and analyze problems in the national schistosomiasis elimination programme, this article presented the national schistosomiasis epidemiology and surveillance in the People’s Republic of China in 2025. By the end of 2025, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region maintained the achievement of schistosomiasis elimination, and 7 provinces of Jiangsu, Sichuan, Yunnan, Hubei, Hunan, Anhui and Jiangxi remained at the criteria of schistosomiasis transmission interruption. In 2025, there were 450 counties (cities, districts), 3 203 townships and 26 029 villages endemic for schistosomiasis in China, with a total population of 73.598 million in endemic villages. Among the 450 endemic counties (cities, districts), 421 (93.56%) achieved the criteria of schistosomiasis elimination and 29 (6.44%) reached the criteria of transmission interruption. In 2025, a total of 3 630 874 residents received immunological tests for schistosomiasis across endemic areas in China, with 31 588 seropositives identified (seroprevalence, 0.87%), and a total of 154 293 individuals received parasitological examinations, with 5 egg-positives detected. A total of 26 688 advanced schistosomiasis cases were recorded in China by the end of 2025. Of 529 683 bovines raised in schistosomiasis-endemic villages in China in 2025, 101 637 bovines received immunological tests for schistosomiasis, with 183 seropositives detected (seroprevalence, 0.18%), and 165 654 bovines received parasitological examinations, with no egg-positives identified. In 2025, Oncomelania hupensis snail survey was performed covering an area of 667 524.82 hm² in China, and 176 378.64 hm² O. hupensis snail habitats were identified, including 123.77 hm² emerging O. hupensis snail habitats and 953.71 hm² re-emerging O. hupensis snail habitats. A total of 19 283 schistosomiasis cases received chemotherapy with praziquantel in China in 2025, and 477 450 person-times and 304 279 herd-times received expanded chemotherapy, respectively. In addition, O. hupensis snail control with chemical treatment covered 116 475.10 hm² snail habitats across China in 2025, with an actual area with chemical control covering 68 510.93 hm² and an area with environmental improvements covering 1 101.84 hm². The national schistosomiasis surveillance results indicated that the mean prevalence of Schistosoma japonicum infections was both 0 among humans and bovines in 2025, and no S. japonicum infection was detected in O. hupensis snails. These data showed that the prevalence of schistosomiasis remained low in China in 2025; however, the area of O. hupensis snail habitats stayed high, with an increase in emerging and reemerging O. hupensis snail habitats. It is recommended to improve the surveillance and forecast mechanism for schistosomiasis and precisely implement the O. hupensis snail control programme in high-risk areas.

Objective To systematically reconstruct the evolution of schistosomiasis prevalence in China from 1950 to 2024, so as to fill the gap of national data on schistosomiasis prevalence in China before 1986. Methods Schistosomiasis control data were collected from schistosomiasis-endemic areas of China before 1986, which mainly included statistical data on schistosomiasis, compilations of control records, annual work reports, and academic papers. Data pertaining to the prevalence of schistosomiasis from each province (autonomous region, municipality) were collected and summarized annually, and integrated into national annual work reports for schistosomiasis control in China from 1986 to 2024 to build a national schistosomiasis epidemic database covering schistosomiasis patients, cattle with schistosomiasis, and Oncomelania hupensis snails. The provincial-level epidemic data of schistosomiasis were summarized annually from 1986 to 2024 with pivot tables, and then the national epidemic data of schis tosomiasis were summarized. The temporal trends in key epidemic indicators of schistosomiasis were analyzed in China from 1950 to 2024. Results A complete time-series dataset of schistosomiasis was established in China from 1950 to 2024 through systematic reconstruction of multi-source historical documents and materials. A total of 1.97 million newly detected schistosomiasis cases were recorded in China from 1950 to 2024, and the actual number of schistosomiasis patients was all more than 1 million each year from 1955 to 1978. There were only more than 20 000 advanced schistosomiasis patients in China by the end of 2024, and the prevalence of Schistosoma japonicum human infections reduced from 34.6% in 1950 to below 1.0% after 1996. A total of 2.47 million cattle were tested positive for schistosomiasis, and the prevalence of S. japonicum infections reduced from 21.4% in bovines since 1950. The area of emerging O. hupensis snail habitats was concentrated during the period between 1956 and 1958, accounting for 49.8% of total areas, while the area of emerging O. hupensis snail habitats significantly decreased since 1992, indicating a stable distribution pattern of O. hupensis snails. Data validation results showed that the cumulative variation in areas of O. hupensis snail habitats was 1.6%, and the cumulative variation in the number of schistosomiasis cases was 1.4%. Join-point regression analysis revealed four turning points in the prevalence of S. japonicum infections in humans and seven turning points in the prevalence of S. japonicum infections in livestock across China from 1955 to 2024. Conclusions Through the joint efforts of the Communist Party of China and government leadership, interdepartmental collaboration, professional teams, scientific and technological innovation, and public participation, the schistosomiasis epidemic has been effectively controlled in China following active control for more than 70 years. This study builds, for the first time, a complete time-series dataset on schistosomiasis in China, which provides insights into assessment of the effectiveness of schistosomiasis control programmes and refinement of the experience from schistosomiasis control programmes in China.

Objective: To assess the status of sexual behaviors, HIV/AIDS knowledge awareness, and novel synthetic drug use among school attending young students in Guangdong Province, so as to provide evidence base for formulating targeted intervention strategies. Methods: From September to December 2024, a convenience sampling method was employed to conduct an anonymous online survey among 41 119 students from 20 higher education institutions and vocational colleges in Guangdong Province. Chi square test was utilized for rate comparisons and univariate analysis, and a multivariate Logistic regression model was applied to analyze factors associated with novel synthetic drug use. Results: The self reported rate of sexual behavior was 5.2%. Among sexually active students, the rates of unprotected sexual intercourse, having temporary sexual partners, and having commercial sexual partners were 32.4%, 34.5%, and 26.3%, respectively. The awareness rate of HIV related knowledge was 75.7%. The overall use rate of novel psychoactive substances(NPS) was 1.0%, and among sexually active students it was 6.5%. Multivariate Logistic regression analysis showed that students with sexual experience ( OR =4.15) and those with HIV testing history ( OR =9.38) had higher risks of NPS use; among sexually active students, those with unprotected sexual intercourse ( OR =6.83) and those with commercial sexual partners ( OR = 4.68 ) had higher risks of NPS use (all P <0.05). Conclusions The HIV/AIDS knowledge level among surveyed students needs further improvement, and high risk sexual behaviors are cross linked with novel synthetic drug use. It is recommended to carry out integrated health education for all students and implement comprehensive targeted interventions for sexually active students.

Objective To analyze the serological survey results of Changsha City in 2016 and 2024, and to investigate the short-term impact of adjusting the immunization program with two doses of mumps containing vaccine on the mumps antibody levels of healthy individuals in Changsha City. Methods Using the relevant data and samples from the mumps serological surveys conducted in 2016 and 2024, serum mumps IgG antibodies were quantitatively detected by enzyme-linked immunosorbent assay. The results from these two surveys were analyzed and compared using SPSS 25.0 software. Results The survey included 1 512 participants in 2016 and 1 398 in 2024. In 2024, both the seropositivity rate and IgG antibody levels against mumps in the healthy population were significantly higher than those in 2016 (all P<0.01). Specifically, the seropositivity rates and IgG antibody levels in the age groups of 8–17 months, 18 months–2 years, 3–4 years, and 5–9 years were significantly higher in 2024 compared to 2016 (all P < 0.001). However, among the participants in 2024, the 15–19 years age group showed relatively low seropositivity rate and IgG antibody levels. Conclusion Following the adjustment of the two-dose MuCV immunization strategy, the mumps IgG antibody levels among children aged 8 months to 9 years in Changsha have increased. It is necessary to continue implementing the routine two-dose MuCV vaccination strategy and to explore the necessity of strengthening and supplementing immunization for key groups, including the high-risk 5–9-year-old population and the immunologically vulnerable 15–19-year-old population.

Metabolic dysfunction-associated fatty liver disease （MAFLD） has become the most common chronic liver disease worldwide. Its pathological process is centered on the “two-hit” theory， with gut-liver axis dysregulation running through the entire disease course from steatosis to liver cirrhosis and even hepatocellular carcinoma， and it forms an extensive cross-system regulatory mechanism with the metabolic， cardiovascular， renal， and psychological and nervous systems through multi-dimensional pathways such as the “gut-liver-brain axis”， the “liver-kidney axis”， and the “liver-heart axis”. Disease progression is not limited to the liver itself， and it also involves functional imbalance of multiple organ systems throughout the body. This article systematically elaborates on the association mechanism of “liver pathological progression-multi-axis regulation-comorbidity occurrence” in MAFLD， proposes synergistic management strategies integrating early screening based on risk stratification， targeted intervention， and multidisciplinary diagnosis and treatment， and analyzes the limitations of current research and future development directions， in order to provide a theoretical basis and practical guidance for precise diagnosis and treatment and individualized management of MAFLD.

Doctor digital twins， as a significant innovative form within the medical metaverse， integrate technologies such as large language models， natural language processing and multimodal learning. They can simulate doctors’ appearance， language style， and certain clinical reasoning， realizing diverse applications such as medical knowledge dissemination， intelligent consultation， health management， and medical education. While enhancing the accessibility and intelligence of healthcare services， doctor digital twins also give rise to multidimensional ethical challenges， such as data security and privacy breaches， algorithmic black box and bias， a crisis of doctor-patient trust， weakening of doctors’ subjectivity， and ambiguities in legal responsibility. This paper systematically reviewed the core concepts and current application status of doctor digital twins， constructing a tripartite analytical dimension centered on “technology， doctor-patient relationship， and law.” It focused on pivotal ethical issues encountered in practical application， including data security， patient informed consent and trust， legal responsibility delineation， and others. These aimed to provide ethical guidance and theoretical support for the sustainable development of doctor digital twins， promote the deep integration of smart healthcare and humanistic care， as well as contribute to building a safer， more trustworthy， and sustainable intelligent healthcare system.

ObjectiveTo evaluate the clinical efficacy of Fuzheng Huaji Formula （扶正化积方） for chronic hepatitis B to reduce the incidence of liver cirrhosis and hepatocellular carcinoma. MethodsA retrospective cohort study was conducted， collecting medical records of 118 patients with chronic hepatitis B and 234 patients with hepatitis B-related cirrhosis who visited the hospital between January 1， 2014， and December 31， 2018. The use of Fuzheng Huaji Formula was designated as the exposure factor. Patients receiving antiviral treatment for hepatitis B without concurrent Fuzheng Huaji Formula therapy were included in the western medicine group， while those receiving antiviral treatment combined with Fuzheng Huaji Formula for a cumulative treatment lasting longer than 3 months were included in the combined treatment group. The follow-up observation period was five years. Kaplan-Meier survival analysis was used to assess the cumulative incidence of cirrhosis in patients with chronic hepatitis B and the cumulative incidence of hepatocellular carcinoma in patients with hepatitis B-related cirrhosis. Univariate and multivariate Cox regression analyses were employed to examine the factors influencing the occurrence of cirrhosis and hepatocellular carcinoma. ResultsAmong patients with chronic hepatitis B， there were 55 cases in the combined treatment group and 63 cases in the western medicine group； among patients with hepatitis B-related cirrhosis， there were 110 cases in the combined treatment group and 124 cases in the western medicine group. Five-year follow-up outcomes for chronic hepatitis B patients showed that the cumulative incidence of cirrhosis was 5.45% （3/55） in the combined treatment group and 17.46% （11/63） in the western medicine group， with a statistically significant difference between groups （Z = 2.003， P = 0.045）. Five-year follow-up outcomes for hepatitis B-related cirrhosis patients showed that the cumulative incidence of hepatocellular carcinoma was 8.18% （9/110） in the combined treatment group and 22.58% （28/124） in the western medicine group， also showing a statistically significant difference （Z = 3.007， P = 0.003）. Univariate and multivariate Cox regression analyses indicated that treatment with Fuzheng Huaji Formula is an independent protective factor in preventing the progression of chronic hepatitis B to cirrhosis and the progression of hepatitis B-related cirrhosis to hepatocellular carcinoma （P＜0.05）. ConclusionCombining Fuzheng Huaji Formula with antiviral therapy for hepatitis B can effectively intervene in the disease progression of chronic hepatitis B， reducing the incidence of cirrhosis and hepatocellular carcinoma.