Inborn errors of immunity and its clinical significance in children with lymphoma in China: a single-center study

Abstract Objective: To investigate the incidence, clinical and genetic characteristics of pediatric lymphoma patients of China with inborn errors of immunity (IEI)-related gene mutations, which have not been fully studied. Method: From Jan. 2020 to Mar. 2023, IEI-related genetic mutations were retrospectively explored in 108 children with lymphomas admitted to Beijing Children's Hospital by NGS. Genetic rule and clinical characteristics as well as treatment outcomes were compared between patients with or without IEI-related gene mutations. Results: A total of 17 patients (15.7 %) harbored IEI-associated mutations, including 4 cases with X-linked lymphoproliferative syndrome (XLP), 3 cases had mutations in tumor necrosis factor receptor superfamily 13B (TNFRSF13B), 2 cases with Activated p110 syndrome (APDS). Patients with IEI all had alteration of immunocompetence with decreased levels of immunoglobulin and lymphocyte subsets. Recurrent infection existed in 41.2 % of patients. The 18-month event-free survival (EFS) and the overall response rate (ORR) of patients with IEI are significantly lower than those without IEI (33.86% vs. 73.26 %, p = 0.011; 52.94% vs. 87.91 %, p = 0.002, respectively). In addition, patients with IEI had a higher progression disease (PD) rate of 23.5 % than those without IEI of 4.4% (p = 0.006). Conclusion: The present study demonstrated that IEI-associated lymphomas were much more common than originally appreciated in pediatric lymphomas, and those were insensitive to treatment and more likely to progress or relapse. The genomic analysis and a thorough review of the medical history of IEI can be used to distinguish them from pediatric lymphomas without IEI, which are beneficial for the early diagnosis and direct intervention.

Prevalence and risk factors for falls among older Chinese adults in the community: findings from the CLHLS study

Older adults have a high prevalence of falls due to a decline in physiological functions and various chronic diseases. This study aimed to investigate the prevalence of and risk factors for falls among older individuals in the Chinese Longitudinal Healthy Longevity Survey (CLHLS). We collected information from 9737 older individuals (average age=84.26 years) from the CLHLS and used binary logistic regression analysis to explore the independent risk factors and protective factors for falls. The logistic regression analysis results are reported as adjusted odds ratios (aORs) and 95% confidence intervals (95%CIs). The prevalence of falls among older adults in China was 21.6%, with women (24.6%) having a higher prevalence than men (18.1%). Logistic regression analysis revealed that never (or rarely) eating fresh fruit, difficulty with hearing, cataracts, and arthritis were the common independent risk factors for falls in older Chinese men and women. Among men, age ≥80 years (aOR=1.86), never doing housework (aOR=1.36), and dyslipidemia (aOR=1.47) were risk factors, while eating milk products once a week was a protective factor. Alcohol consumption (aOR=1.40), physical labor (aOR=1.28), and heart disease (aOR=1.21) were risk factors for falls in women, while a daily sleep duration of 6-12 h and garlic consumption once a week were protective factors. The prevalence of falls among older adults in China is 21.6% and is greater in women than in men. These risk and protective factors can be used to formulate reasonable recommendations for living habits, diet, and chronic disease control strategies.

Association between loneliness and mental health among nurses: a cross-sectional research in China

This study explored the association between loneliness and mental health among nurses in China during the COVID-19 pandemic. This cross-sectional study was conducted from March to April 2022. We enrolled 2,811 nurses from a tertiary hospital in China. Demographic characteristics, lifestyle factors, work-related factors, and psychological characteristics were collected from participants via a self-reported questionnaire. Loneliness was measured with the three-item short form of the Revised UCLA Loneliness Scale, and the Patient Health Questionnaire (PHQ-9) and the General Anxiety Disorder (GAD-7) scale were used to measure mental health. Adjusted odds ratios (ORs) and 95% confidence intervals (CI) were determined using binary logistic regression. Among participants in this study, 12.0% (337) experienced loneliness, and 7.8% (219) and 6.7% (189) reported depression and anxiety, respectively. The loneliness scores were categorized into three levels (3, 4-6, and 7-9). For depression, compared with the lowest reference, the ORs and 95% CI across the tertile were 1.31 (0.69-1.84) and 2.53 (1.11-5.76) after adjustment, respectively, and the P-value for trend was 0.045. For anxiety, compared with the lowest reference, the ORs and 95%CI across the tertile were 1.84 (1.28-2.63) and 2.52 (1.57-4.10) after adjustment, respectively; the P-value for trend was 0.004. This study showed that loneliness was significantly associated with poor mental health among nurses during the COVID-19 pandemic. These findings suggested that medical establishments should offer interventions for nurses to prevent mental health problems by targeting this modifiable risk factor.

Acute sarcoidosis Löfgren Syndrome treated by Chinese medicinal formula based on Syndrome Differentiation: a case - based review / Tratamiento de síndrome de Löfgren de sarcoidosis con fórmula medicinal china basada en diferenciación de síndrome: una revisión basada en casos

Löfgren syndrome (LS) is a unique acute manifestation of sarcoidosis and characterized by erythema nodosum, bilateral hilar lymphadenectasis, and/or bilateral ankle arthritis or periarthritis. A 37 - year - old female patient with LS presented with fever accompanied by multiple joint swelling and pain, nodular skin erythema, and bilateral hilar lymphadenectasis. The patient had received treatment involving non - steroidal anti - inflammatory drugs and glucocorticoids in other hospitals, but the effects were poor, and the conditions reemerged. The LS duration has lasted for more than 3 months. Following traditional Chinese medicine (TCM) treatment, syndrome differentiation as well as giving patients oral Chinese medicine decoction, the symptoms of the patient were rapidly relieved within one week and did not recur during a six - month follow - up period. This case is the first clinical report of acute sarcoidosis LS treated using T CM and reflects the significant advantages of this form of therapy in emergency treatment

El síndrome de Löfgren (LS) es una manifest ación única y aguda de sarcoidosis, caracterizada por eritrema nodoso, linfadenectasis hilar bilateral, y/o a r tritis de tobillo bilateral o periartritis. Una paciente de 37 años de sexo femenino con LS se presentó con fiebre, acompañada de inflamación y do lor múltiple de articulaciones, eritrema nodular cutáneo, y linfadenectasis hilar bilateral. La paciente recibió un tratamiento que consistió en antiinflamatorios no esteroidales y glucocorticoides en otros hospitales, pero los efectos fueron leves y las c ondiciones reemergieron. El LS ha durado más de tres meses. Siguiendo el tratamiento de medicina tradicional china (MTC), la diferenciación de síndrome, así como darles a los pacientes una decocción de medicina china por vía oral, los síntomas de la pacien te rápidamente fueron aliviados en el curso de una semana y no recidivaron durante los seis meses de un seguimiento. El caso es el primer reporte clínico de tratamiento de sarcoidosis aguda asociada a LS usando TCM y refleja las significativas ventajas de esta forma de terapia en el tratamiento de emergencia.

The epidemiology and prediction of brain tumors incidence and mortality in China / 基础医学与临床

Objective To describe the incidence and mortality of brain tumors in China in 2020 and to predict the disease burden up to 2040.Methods The brain tumor incidence and mortality in 2020 were recorded based on the data from International Agency for Cancer Research(IARC),Cancer Today database.The incidence and mortality were standardized by age using Segi's world standard population.The burden of brain tumors in 2040 was predicted with assuming that national rates remained constant in 2020.Results It was estimated there were approximately 79 600 new brain tumors cases and 65 200 deaths in China in 2020.The age-standardized incidence and mortality rates of brain tumors in China were 4.1/100 000 and 3.2/100 000,respectively,which were lower than the United States of America,most of European countries and Australia.The incidence and mortality were higher than Africa,central America,and the Caribbean.From 2020 to 2040,the brain tumors cases and deaths are predicted to have an increase as 32.1%and 41.5%respectively.Conclusions The disease burden of brain tumors was still heavy in China.Further studies are urgently needed to clarify the epidemic trend of tissue typing and risk factors of brain tumors,which may support the development of effective prevention strategies.

Application of three-dimensional simulated osteotomy of the distal femur in total knee arthroplasty / 中国组织工程研究

BACKGROUND:Studies have shown that there are significant differences in the geometric morphology of the distal femur of different races and genders,and there are more short female patients in southern China,so the phenomenon of overhanging or insufficient coverage of imported knee prostheses often occurs during surgery. OBJECTIVE:To investigate the characteristics of distal femur bones in southern Chinese women and compare them with imported joint prostheses by simulating the three-dimensional reconstruction of the distal femur bone and matching the femoral side after osteotomy with common imported joint prostheses. METHODS:From January to December 2021,120 female volunteers underwent a CT scan of knee joints.The images were imported into Mimics 20.0 software in Dicom format for three-dimensional reconstruction and then imported into Magic 22.0 software to simulate osteotomy by posterior cruciate ligament preserved total knee arthroplasty and to conduct a matching study with a normal imported joint prosthesis. RESULTS AND CONCLUSION:(1)The functional anteroposterior dimension(fAP)of the distal femur and Persona matched prosthesis had a total overhang rate of 25%(30/120).The fAP≤47 mm group had an overhang than the other groups(P<0.05).The poor coverage rate of Triathlon prosthesis was 12.5%(15/120),and poor coverage was more likely in fAP>53 mm group than in fAP≤53 mm group(P<0.05).(2)The total poor coverage rate of femoral intercondylar width matching with Triathlon prosthesis was 27.5%(33/120).Therefore,the poor coverage rate of bone surface in the central region of the distal femur was more likely in the fAP≤47 mm group than in other groups(P<0.05).The overhang rate of Journey II was 21.6%(26/120),and the overhang rate was higher in the fAP>53 mm group than in the fAP≤53 mm group(P<0.05).(3)Journey II CR prosthesis had the largest difference with the length of the anterior mediolateral diameter of the femur,which was easy to hang out on the anterolateral side of the femoral prosthesis.The Persona CR prosthesis has the largest difference with the length of the posterior mediolateral diameter of the femur,which is easy to be poorly covered in the posterior medial part of the prosthesis.It is recommended to increase the femoral prosthesis with reduced mediolateral diameter in the fAP≤47 mm group and add wider and narrower sizes than the conventional size of intercondylar width,and optimize the anterolateral angular arc design of the femoral prosthesis to improve the matching of posterior cruciate ligament reserved knee prosthesis.

Comparison of clinical medicine proficiency tests of China and Japan and the enlightenment / 中华医学教育探索杂志

The Clinical Medicine Proficiency Test developed by the National Medical Examination Center of China in 2020 aims to assess whether clinical medical students possess the necessary medical humanities and basic medical theoretical knowledge and skills required for clinical internships. Since 2002, Japan has implemented the pre-clinical clerkship objective structured clinical examination and computer-based testing, which share similarities with China's proficiency test in terms of examination objectives, content, format, and score evaluation. Through comparing the examinations of China and Japan, this article concludes that it is necessary to learn from Japan's experience to expedite the process of promoting the Clinical Medicine Proficiency Test as an industry admission examination in China. We suggest that medical schools should keep tracking the development of the proficiency test and fully leverage its role in urging students to pay more attention to clinical internships. We also urge medical schools to establish a three-level examination system based on post competency criteria in line with the standards of the National Medical Licensing Examination to improve the quality of medical education.

Analysis on Basic Research Discipline Competitiveness of 8 Strong Schools in Stomatology Field / 医学信息学杂志

Purpose/Significance To analyze the overall competitiveness,secondary discipline competitiveness and trend of 8 strong schools of stomatology in China by constructing the competitiveness index.Method/Process The data of National Natural Science Founda-tion of China of 8 strong schools in stomatology field from 2011 to 2019 is retrieved.By using descriptive statistical methods,the disci-pline competitiveness index is constructed to analyze the discipline competitiveness and trend of 8 strong schools in stomatology field.Result/Conclusion The competitiveness ranking of 8 strong schools is basically solidified,but the gap may be narrowing.

Study on Teaching Support Services of Libraries of Medical Universities and Colleges under the Background of Healthy China / 医学信息学杂志

Purpose/Significance To provide high-quality health information services,to promote the coordinated development of medical and educational services,and to help build a healthy China service system.Method/Process By using the methods of network investigation,literature investigation and telephone interview,the paper investigates the current situation of teaching support services of 30 libraries of medical universities and colleges in China,and analyzes the existing problems from four aspects:teaching resource serv-ices,information literacy services,disciplinary services and service guarantee.Result/Conclusion Libraries of medical universities and colleges should establish and improve the teaching support service system,strengthen discipline teaching support services,provide accu-rate health information services,strengthen regional or departmental collaboration,and innovate intelligent service modes,so as to be-come an important driving force for healthy China initiative.

Analysis of Medical Students'Mental Health and Stressors in the Context of Healthy China / 医学研究杂志

Objective To investigate the mental health level and stressors of medical students in a university in Xinjiang in the con-text of healthy China and analyzing their influencing factors.Methods From February to April 2021,a stratified cluster random sampling method was used to select 4421 medical students from a university in Xinjiang.Questionnaires were administered using Symptom Check List 90(SCL-90)and the Stressor Scale for Contemporary College Students.Results 25.26％medical survival in varying degrees of SCL-90scale listed symptoms;SCL-90scores on all factors were lower than the national norm for university students in some regions,the SCL-90scale scores for somatization,obsessive-compulsive symptoms,depression,and terror factors were significantly higher for girls than for boys(P＜0.05);the main stressors were developmental distress type;students from outside the Xinjiang had higher scores on developmental distress stressors than students from inside the Xinjiang(P＜0.05);girls were more stressed than boys,female students scored higher on developmental distress,personal management,and negative event stressors than male students(P＜0.05).Pearson cor-relation analysis showed that students'mental health level was positively correlated with the source of pressure(P＜0.05).Conclusion In a university in Xinjiang,25.26％of medical students had different degrees of mental health problems,and the mental health level of fe-male students was inferior to that of male students.Mental health level is positively correlated with stress,and developmental distress stress is the main source of stress for medical students.There are some differences in mental health level and stressors of medical students with different characteristics.

Epidemic characteristics and trend of brucellosis in China from 2004 to 2018 / 中华地方病学杂志

Objective:To analyze the epidemic characteristics of brucellosis in China from 2004 to 2018, in order to understand the development trend of brucellosis.Methods:The surveillance data of brucellosis in China from 2004 to 2018 were collected from National Public Health Science Data Center. Joinpoint regression was used to analyze the trend of brucellosis incidence in China and various provinces. Overall trends were estimated by the average annual percentage change (AAPC). Seasonal and trend decomposition using loess (STL) was used to analyze the seasonal characteristics of brucellosis in China and various provinces. The age-related thermodynamic diagram of incidence rate was used to analyze the characteristics of age-onset changes.Results:From 2004 to 2018, a total of 524 980 brucellosis cases and 16 deaths were reported nationwide, with a incidence rate of 2.61/100 000 and a case fatality rate of (3.05 × 10 -3)%. The incidence of brucellosis in China was on the rise (AAPC = 11.58%, 95% CI: 7.91% - 15.25%, P < 0.001). There was no significant trend of change in Inner Mongolia Autonomous Region, Shanxi and Shaanxi provinces ( P > 0.05). Tibet Autonomous Region showed a downward trend (AAPC = - 55.19%, P < 0.001). All other provinces were showing an upward trend (AAPC > 0, P < 0.05). The peak incidence in China occurred from April to June. In terms of provinces, the peak incidence in Hainan, Sichuan, Guizhou, Fujian and Anhui provinces occurred from April to August, the peak incidence in Chongqing and Shanghai cities occurred from June to August, and the peak incidence in other provinces was generally from April to June. There were reports of brucellosis cases in all age groups nationwide, and the age distribution showed an inverted "V" shape. The peak incidence occurred in the 50 - 54 years old (5.43/100 000), followed by the 60 - 64 years old (4.94/100 000). From 2004 to 2018, the top 3 age groups of incidence rate changed from 40 - 44, 50 - 54 and 35 - 39 years old in 2004 to 50 - 54, 60 - 64 and 55 - 59 years old in 2018. Conclusions:The incidence of brucellosis is on the rise nationwide and in most provinces from 2004 to 2018. The high incidence age is gradually changing to the elderly population.

The Practical Value,Dilemma and Optimisation Path of the Integration of Sports and Healthcare in China under the Background of"Healthy China" / 中国卫生经济

The development of the integration of sports and health care(hereinafter referred to as"integration of sports and health care")is a key initiative to promote the health of residents.Literature,logical analysis and other research methods are applied to study the connotation,value and dilemma of the integration of sports and health care,and propose strategies.Body and health integration has demonstrated practical value in implementing the strategy of Healthy China,improving the health of the whole population,and optimizing the allocation of health resources.However,there are also practical dilemmas such as synergistic barriers in the institutional mechanism,insufficient knowledge of the population's health,a relative lack of professionals,and difficulties in promoting the results on the ground.Therefore,the following optimization paths are proposed:strengthening coordination and management,and improving the top-level design;strengthening health education to improve residents'health awareness;optimizing talent training programs and building a talent training mechanism;strengthening the application of results to guide and improve the application and promotion platform.

Realistic Foundations,Constraints and Optimization Strategies for Digital Transformation of Community Health Management in China / 中国卫生经济

The digital transformation of China's community health management is a key step in the high-quality development of medical and health services,and is of great significance in enhancing the health and well-being of all residents.Using literature analysis,logical analysis and other research methods,it analyzes the practical foundation and constraints of the digital transformation of China's community health management,and proposes optimization strategies.It concludes that national policy,infrastructure development and social demand provide a realistic foundation for the digital transformation of community health management in China,but it also faces the problems of insufficient transformation of thinking,the concept of digital management has not sufficiently replaced the traditional concepts;the technical foundation is weak,and the construction and operation of the digital application platform started late;the structural barriers are prominent,and the lack of sound system construction leads to insufficient cooperation among the main bodies;the lack of digital standards,and the lagging operation of digital standardization of community health management;and the lack of digital standards.Management digital standardized operation lagging behind the constraints.Accordingly,it is proposed to promote the identity of the digital transformation of community health management,to build an operational space for digital community health management,to improve the digital system to regulate the activation of synergistic governance of the main body,and to optimize the supervision and guarantee of technology in digital management.

The Reality Basis,Development Dilemma and Relief Strategy of China's Health Consumption Upgrading in the New Era / 中国卫生经济

Health consumption upgrading is an important way to benefit residents'livelihood,protect health and promote the construction of healthy China.It analyzes the practical foundation and development dilemma of China's health consumption upgrading in the new period through literature and logical analysis,and puts forward strategies to alleviate the dilemma.It concludes that in the new period,China's health consumption upgrading has the practical foundation of significant effect of health poverty alleviation policies,continuous upgrading of national health consumption concepts,and continuous emergence of health science and technology innovations,but also faces the development dilemmas of unstable health market order,insufficient supply of health products,insufficient application of health science and technology,and lack of deep cultivation of health literacy.Accordingly,the following strategies are proposed to alleviate the difficulties:strengthen top-level design to create a new"environment"for health consumption;promote diversified participation to meet the new"demand"for health consumption;strengthen technology-driven to build a new"industry"for health consumption;and cultivate health literacy.Cultivating health literacy and cultivating new"potential"for healthy consumption.

A meta-analysis of related factors of depressive symptoms among men who have sex with men in China / 中国心理卫生杂志

Objective:To systematically review the related factors of depressive symptoms among men who have sex with men(MSM)in China.Methods:CNKI,Wanfang Data,VIP,CBM,EMbase,Pubmed,CINAHL,Web of Science and the Cochrane Library were searched from inception to February 17,2023.After literature screening and data extraction,two researchers independently assessed the quality of included studies according to the Agency for Healthcare Research and Quality.Results:A total of 21 articles with 11 822 participants were includ-ed.The results of meta-analysis showed that month income ≥3 000 yuan(OR=0.59),college degree or above(OR=0.59)and high self-esteem(OR=0.83)were protective factors,sexual role as the recipient(OR=1.68),dual sexual role(OR=1.41),multiple sexual partners(OR=1.65),sexual violence experience(OR=3.44),self-rated poor health status(OR=3.93),HIV/AIDS related discrimination(OR=1.13),HIV/AIDS related stress(OR=1.11)and suicidal tendency(OR=2.86)were risk factors for depressive symptoms.Conclusion:There are many related factors to the depressive symptoms of MSM.It is necessary to carry out early intervention on the basis of personalized assessment to reduce the occurrence of depressive symptoms among MSM.

Role of basic researches in the development of orthopedics in China / 中华创伤杂志

From inception to development, from development to leaps, from theoretical innovation to technological progress, and from the diagnosis and treatment of orthopedic diseases to the pursuit of root causes for prevention and treatment, every step forward of orthopedics in China owes much to breakthroughs in related basic researches. Based on representative achievements in basic researches that have promoted and propelled clinical application innovations in the history of orthopedic development in China, the author summarized and elucidated the crucial role of basic research in the development of orthopedics in China. The analysis of the current issues in basic orthopedic researches in China aimed to explore the future development of orthopedics. May orthopedic colleagues continue to strive, be focused on the scientific frontier, delve deeper into basic research, and tirelessly irrigate the everlasting source of vitality for the evergreen tree of China ′s orthopedic cause!

National bloodstream infection bacterial resistance surveillance report (2022) : Gram-negative bacteria / 中华临床感染病杂志

Objective:To report the results of national surveillance on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2022.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of national bloodstream infection Bacterial Resistant Investigation Collaborative System（BRICS）were collected during January 2022 to December 2022. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute（CLSI）. WHONET 5.6 and SPSS 25.0 software were used to analyze the data.Results:During the study period，9 035 strains of Gram-negative bacteria were collected from 51 hospitals，of which 7 895（87.4%）were Enterobacteriaceae and 1 140（12.6%）were non-fermenting bacteria. The top 5 bacterial species were Escherichia coli（ n=4 510，49.9%）， Klebsiella pneumoniae（ n=2 340，25.9%）， Pseudomonas aeruginosa（ n=534，5.9%）， Acinetobacter baumannii complex（ n=405，4.5%）and Enterobacter cloacae（ n=327，3.6%）. The ESBLs-producing rates in Escherichia coli， Klebsiella pneumoniae and Proteus spp. were 47.1%（2 095/4 452），21.0%（427/2 033）and 41.1%（58/141），respectively. The prevalence of carbapenem-resistant Escherichia coli（CREC）and carbapenem-resistant Klebsiella pneumoniae（CRKP）were 1.3%（58/4 510）and 13.1%（307/2 340）；62.1%（36/58）and 9.8%（30/307）of CREC and CRKP were resistant to ceftazidime/avibactam combination，respectively. The prevalence of carbapenem-resistant Acinetobacter baumannii（CRAB）complex was 59.5%（241/405），while less than 5% of Acinetobacter baumannii complex was resistant to tigecycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa（CRPA）was 18.4%（98/534）. There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of main Gram-negative bacteria resistance among different regions，with statistically significant differences in the prevalence of CRKP and CRPA（ χ2=20.489 and 20.252， P<0.001）. The prevalence of CREC，CRKP，CRPA，CRAB，ESBLs-producing Escherichia coli and Klebsiella pneumoniae were higher in provinicial hospitals than those in municipal hospitals（ χ2=11.953，81.183，10.404，5.915，12.415 and 6.459， P<0.01 or <0.05），while the prevalence of CRPA was higher in economically developed regions（per capita GDP ≥ 92 059 Yuan）than that in economically less-developed regions（per capita GDP <92 059 Yuan）（ χ2=6.240， P=0.012）. Conclusions:The proportion of Gram-negative bacteria in bloodstream infections shows an increasing trend，and Escherichia coli is ranked in the top，while the trend of CRKP decreases continuously with time. Decreasing trends are noted in ESBLs-producing Escherichia coli and Klebsiella pneumoniae. Low prevalence of carbapenem resistance in Escherichia coli and high prevalence in CRAB complex have been observed. The composition ratio and antibacterial spectrum of bloodstream infections in different regions of China are slightly different，and the proportion of main drug resistant bacteria in provincial hospitals is higher than those in municipal hospitals.

Study on Drug List and Accessibility of Rare Diseases Based on the China′s Second List of Rare Diseases / 罕见病研究

Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases, to provide reference for the management of rare disease drug treatment. Methods Up to December 31, 2023, based on the China′s Second List of Rare Diseases, we sorted out the drugs approved in China with the drug label, or approved by the U.S. Food and Drug Administration(FDA) and the European Medicines Agency (EMA) for the treatment of the above diseases, and developed the second batch of rare disease drug catalog in China. The accessibility, localization and coverage of the national medical insurance were also analyzed. Results From the point of view of diseases, a total of 37 diseases in the China′s Second List of Rare Diseases have drug indications approved in China, and 10 diseases have drugs listed by the U.S. FDA/EMA and approved in China, but for off-label use. From the point of view of drugs, there are 55 drug indications approved for the treatment of the China′s Second List of Rare Diseases, and 22 drugs listed in the U.S. FDA/EMA and approved in the China, but for off-label use. Among the above-mentioned drugs with domestic approved rare disease indications or approved numbers, 39 drugs have at least one domestic approval number for a dosage form, covering 30 rare diseases; 37 drugs used for at least one rare disease are included in the national medical insurance catalog and are covered by reimbursement, covering 29 rare diseases. Conclusions The list of rare disease drugs in the China′s Second List of Rare Diseases was established. The number of rare disease drugs and covered diseases approved by China and the U.S. FDA/EMA has increased, and the number of rare disease drugs and covered diseases that are localized and included in the medical insurance catalog has also continued to increase.

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023) / 罕见病研究

@#<p>Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure. In severe cases, preterm delivery, hypovolemia, ventricular arrhythmia, rhabdo-myolysis, renal failure, growth failure and sensorineural deafness may occur. In recent years, research on BS has made significant progress. The Bartter Syndrome Consensus Working Group has performed a systematic literature review, and based on evidence-based medicine, summarized aspects related to BS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of complications. This consensus provides an important reference for the better diagnosis and treatment of BS.</p>

Progress of schistosomiasis control in People’s Republic of China in 2023 / 中国血吸虫病防治杂志

To understand the progress of national schistosomiasis elimination program of China in 2023 and summarize the lessons and experiences, data on the endemic status of schistosomiasis and national schistosomiasis surveillance results in the People’s Republic of China were collected and analyzed at a national level. By the end of 2023, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region continued to consolidate the achievements of schistosomiasis elimination, and Sichuan and Jiangsu provinces maintained the criteria of transmission interruption, while Yunnan and Hubei provinces were identified to achieve the criteria of transmission interruption in 2020, and Anhui, Jiangxi and Hunan provinces achieved the criteria of transmission interruption in 2023. A total of 451 counties (cites, districts) were found to be endemic for schistosomiasis in China in 2023, including 26 250 endemic villages covering 73 034 500 residents at risk of infections. Among the 451 endemic counties (cities, districts), 78.49% (354/451) achieved the criteria of schistosomiasis elimination and 21.51% (97/451) achieved the criteria of transmission interruption, respectively. In 2023, a total of 4 216 643 individuals received immunological tests, with 47 794 sero-positives identified, and a total of 184 216 individuals received parasitological examinations, with 4 egg-positives detected. A total of 27 768 cases with advanced schistosomiasis were documented in China by the end of 2023. In 2023, 539 548 bovines were raised in schistosomiasis-endemic areas of China, and 125 440 bovines received immunological tests, with 124 sero-positives detected, while no egg-positives were identified among the 133 508 bovines receiving parasitological examinations. In 2023, snail survey was performed at an area of 641 339.53 hm2 and 184 819.77 hm2 snail habitats were identified, including 51.53 hm2 emerging snail habitats and 642.25 hm2 reemerging snail habitats. In 2023, there were 20 198 schistosomiasis patients receiving praziquantel chemotherapy, and 598 183 person-time individuals and 283 954 herdtime bovines were given expanded chemotherapy. In 2023, snail control with chemical treatment was performed in 116 347.95 hm2 snail habitats, and the actual area of chemical treatment was 65 690.89 hm2, while environmental improvements were performed in snail habitats covering an area of 1 334.62 hm2. The national schistosomiasis surveillance results showed that the mean prevalence of Schistosoma japonicum infections were both zero among humans and bovines in 2023, and no S. japonicum infection was detected in snails. These data demonstrated that transmission interruption of schistosomiasis had been achieved across all endemic provinces in China in 2023, and the endemic status of schistosomiasis tended to be stable, while advanced cases were predominant among all schistosomiasis cases. However, the areas of snail habitats remained high and cattle re-raising was very common in some regions. Intensified schistosomiasis surveillance and forecast and snail control in high-risk areas are needed.