Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

AIM To investigate the clinical effects of Yiqi Shengjin Prescription on patients with primary Sj?gren's syndrome due to Dual Deficiency of Qi and Yin.METHODS Ninety-two patients were randomly assigned into control group(46 cases)for 8-week intervention of conventional treatment,and observation group(46 cases)for 8-week intervention of both Yiqi Shengjin Prescription and conventional treatment.The changes in clinical effects,TCM syndrome scores,ESSDAI score,ESSPRI score,salivary flow rate,immunoinflammatory indices(ESR,hs-CRP,IgG,C3,C4),SAS score,SDS score,T lymphocytes(CD4+,CD8+,Treg,Th17)and safety indices were detected.RESULTS The observation group demonstrated higher total effective rate than the control group(P＜0.05).After the treatment,the observation group exhibited decreased TCM syndrome scores(P＜0.05),which was lower than those in the control group(P＜0.05);the two groups displayed decreased ESSDAI score,ESSPRI score,ESR,hs-CRP,IgG,SAS score,SDS score,CD8+,Th17(P＜0.05),and increased salivary flow rate,C3,C4,Treg(P＜0.05),especially for the observation group(except for CD4+)(P＜0.05).No obvious adverse reactions were observable in the two groups.CONCLUSION For the patients with primary Sjogren's syndrome due to Deficiency of Qi and Yin,Yiqi Shengjin Prescription can safely and effectively improve dry mouth and eye symptoms,and reduce inflammatory indices,whose mechanism may contribute to the regulation of T lymphocyte balance in vivo.

Humans ; Otosclerosis/surgery* ; Stapes ; Stapes Surgery/adverse effects* ; Arteries

Objective:To explore the theory and methods of integrating sports into modern health service systems. Methods:Based on the theory of World Health Organization modern health service systems and the policy guideline Rehabilitation in Health Service Systems, we analyzed how to promote the integration of sports into modern health service systems in six areas: leadership and governance capacity, financing, health human resources, service delivery, medical technology and health information systems, systematically analyzed the key elements and requirements for integrating physical education and sports into the health service system in the four segments of the health service continuum: prevention, intervention, rehabilitation and health promotion. Results:The goal of building a human-centered, cross-sectoral and multidisciplinary health service system was proposed, requiring the promotion of the integration of medicine and sports, the use of sports intervention as a method of health intervention, the development of service technologies and standards for the integration of sports and health; the training of professionals who master sports intervention and sports rehabilitation, and the development of information systems to promote the development of the integration of sports and health services. Conclusion:Sports is an important mean of health and an important part of modern health services. Starting from the components of the health service system, we can build a theoretical and methodological system for integrating sports into the modern health service system, so as to promote the realization of a health service system covering the whole population and the whole life cycle, achieve the United Nations 2030 Sustainable Development Goal 3: ensure healthy lives and promote well-being for all at all ages; and realize the goals related to "Healthy China".

Objective:To study the effect of adapted rhythmic gymnastics based on International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) on the fundamental motor skill development for children with low function autism spectrum disorder (ASD). Methods:Three boys aged 7.2 to 8 years with low function ASD (IQ 47 to 53) participated in the exercise since September, 2019. Their activities and motor function were analyzed with ICF-CY to develop a 12-week rehabilitation exercise, including physical fitness, gymnastics skills content and game. They were assessed with ICF-CY based Questionnaire and gross motor of Peabody Developmental Motor Scales (PDMS-2) before and after training. Results:The qualifiers of body structure, body function, activity and participation improved somehow after training. The scores of gross motor skills of PDMS-2 improved. Conclusion:The adapted rhythmic gymnastics training based on ICF-CY may improve the functioning, especially motor function, for children with low function ASD, which can be a kind of rehabilitation exercise.

Objective To systematically analyze the framework and core content of physical activity inclusive school health policies. Methods This study conducted systematic content analysis of key messages of WHO key documents related to physical activity and school health services, and constructed policy and research framework. WHO's key policy documents in the field of school health included: Making Every School a Health-Promoting School Implementation Guidelines, WHO Guidelines on School Health Services, and the Global Criteria and Indicators for Making Every School a Health-Promoting School, and the key documents in the field of physical activity mainly include Global Action Plan for Physical Activity Promotion 2018-2030: Strengthening Physical Activity for a Healthy World, and WHO Guidelines on Physical Activity and Sedentary Behavior (Children and adolescents). Results Physical activity, as a health strategy and development strategy, is one of the most important tools for achieving health-promoting schools. In the area of health and education, the key to building health-promoting schools is to focus on child functioning and development, with the goal of promoting healthy inclusion and equity in schools. In the school setting, physical activity for children and adolescents is integrated into the school health service continuum with a focus on health promotion. At the macro level, the state and relevant authorities should establish a strategic structure and strategic planning for the integration of physical activity into the school health service system. At the meso level, educational institutions should develop and improve school health service policies and programs, and improve school health service tools based on the requirements of WHO school health service guidelines. Child health services are achieved through the provision of high-quality physical education programs and after-school physical activities. At the micro level, guided by global standards for building health-promoting schools, physical activity is promoted in the form of lessons and activities for healthy child development. Integrating physical activity into the school health service system can be done in six areas: school health leadership and governance, school infrastructure funding, school health service delivery that supports physical activity, human resources for school health, school health-related medicine and technology, and school health information system. We need to implement health-promoting school policies, strengthen multi-level school leadership and governance, raise the necessary funds to develop human resources adapted to the construction of health-promoting schools and build programs to support physical activity. Conclusion School health service is an important area for promoting children's health and achieving the UN 2030 Sustainable Development Goals, and physical activity is an important strategy of school health services. Policy documents issued by WHO construct the integration of physical activity into the policy framework of the school health service system, of which the core component is to integrate physical activity into the health-promoting school with educational and physical activity approaches. According to the WHO six building blocks of health service system, the integration of physical activity into the school health requires strengthening school health leadership and governance, improving school infrastructure financing, developing school health human resources, developing school-based health-related medical technologies, and establishing a health information system for sharing student health data.

Objective To explore the theories, content and approaches of integrating physical activity in children's eye health service system in the context of health services. Methods From the perspectives of six building blocks of WHO health system, namely, leadership and governance, financing, human resources for health, service delivery, medical technology, and health information system, we analyzed the policy framework and key contents related to school-based eye health and physical activity, and explored how to promote the implementation of physical activity into the school-based eye health service system, and the integration of physical activity into the eye health continuum: prevention, intervention, rehabilitation, and health promotion. Results In perspective of health system, the integration of physical activity into school-based eye health services should be in accordance with the five principles of cross-cutting health services, namely, universal accessibility and equity, human rights, evidence-based, life-span, and empowerment. According to the World Vision Report, WHO advocates to build a person-centered eye health service system, and person-centeredness is the core concept of the new model of school-based eye health services and physical activity integration. WHO advocates a school-based approach to education and physical activity in health-promoting schools to promote student health, physical activity as a preventive, interventional, rehabilitation and health promotive measure related to children's eye health, and vigorously train professionals within schools who have knowledge and skills related to physical activity and eye health, build an information system on physical activity and children's eye health, and promote the integration of physical activity into the school-based eye health service system. Conclusion Physical activity is an important measure to promote children's eye health and an important component to achieve a person-centered eye health service system. Based on the six building blocks of the WHO health service system, a school-based eye health service that integrates a theoretical and methodological system of physical activity is constructed, requiring the provision of health promotion methods such as education and physical activity in the school setting, to enhance leadership and governance of eye health services based on educational and physical activity approaches in the school setting, establish new funding mechanisms, provide financial security, develop human resources related to physical activity for eye health, improve related service delivery systems, develop high-quality physical activity intervention eye health techniques and equipment, and integrate information on children's physical activity and eye health into school health information systems to achieve children's eye health and promote their physical and mental development.

Objective To study and analyze the theory, policy framework, and core content of physical activity policies and physical activity guidelines. Methods Using a policy research and content analysis approach and the theory of the six components of World Health Organization (WHO) health service system, we specifically analyze the theory, framework, and core content of WHO Global Action Plan on Physical Activity and WHO Physical Activity Guidelines. Results The Global Plan of Action for Physical Activity 2018-2030 (Action Plan) is an international policy document on physical activity issued by WHO that incorporates physical activity within the context of the seven principles of human rights, the life span, evidence-based practice, proportional universality, policy coherence and integration of health into all policies, participation and empowerment, and multisectoral partnerships into health services and social development. The Action Plan consists of four strategic objectives and 20 policy actions, covering six areas of WHO health service system, and the integration of physical activity policies into health services is of great importance in promoting the achievement of the United Nations Sustainable Development Goal 3 of universal health coverage. As a technical document for the implementation of the Action Plan, 2020 WHO Guidelines on Physical Activity and Sedentary Behavior (Guidelines) adopted the PI/ECO approach to analyze the physical activity needs of various groups of people, and provide guidelines to increase physical activity and reduce sedentary behavior for children and adolescents, adults, older adults, pregnant and postpartum women, people with chronic diseases and people with disabilities. The guidelines cover duration, frequency, and intensity of physical activity, types of physical activity, critical and important health outcomes of physical activity, and health risk prevention and related considerations. The Guidelines implement the relevant guiding principles of the Action Plan and aim to improve overall population participation in physical activity at the micro level and improve critical and important health outcomes for the overall population. Conclusion As a health and development strategy, the Action Plan promotes the integration of physical activity into the health delivery system to facilitate the achievement of the United Nations 2030 Sustainable Development Goal 3 of universal health coverage.The four strategic objectives and 20 policy actions of the Action Plan can be integrated into these six areas based on the six components of WHO Health Service Delivery System: leadership and governance, financing, human resources, service delivery, medical technology, and health information. As a technical document to implement the Action Plan, the Guidelines are based on the PI/ECO approach framework and provide guidance on increasing physical activity and reducing sedentary behavior for children and adolescents, adults, older adults, pregnant and postpartum women, chronic patients, and persons with disabilities. The core content addresses the target populations, duration, frequency, and intensity of physical activity, types of physical activity, critical and important health outcomes of physical activity, and health risk prevention and related considerations.

OBJECTIVE: To compare the efficacy and safety of different doses of daunorubicin combined with a standard dose of cytarabine as induction chemotherapy in newly diagnosed primary acute myeloid leukemia (AML) patients. METHODS: The clinical data and outcome were retrospectively analyzed in 86 newly diagnosed primary AML patients who were under 65 years old and treated with daunorubicin combined with cytarabine (DA regimen) at West China Hospital of Sichuan University from January 2017 to June 2019. Patients were divided into 2 groups based on the dose of daunorubicin they received, 35 cases in the escalated-dose group ［75 mg/(m RESULTS: Median follow-up time of all the patients was 15 months. The CR rate and MRD CONCLUSION The escalated dose of daunorubicin can induce higher complete remission rate, deeper remission and longer duration of remission without increasing adverse events in newly diagnosed primary AML patients.
Aged ; Antineoplastic Combined Chemotherapy Protocols ; Cytarabine/therapeutic use* ; Daunorubicin ; Humans ; Induction Chemotherapy ; Leukemia, Myeloid, Acute/drug therapy* ; Remission Induction ; Retrospective Studies

Objective To test the spatial resolution and average glandular dose (AGD) of full field digital mammography system to obtain high-resolution and contrast breast X-ray images with the lowest dose.Methods The M12 breast X-ray performance test phantom was placed on the breast support center position,then line-pair card was put on the M12 phantom and fixed groove,and exposure was carried out with auto exposure control,28 kV tube voltage and common anode filtration combination so as to detect the spatial resolution.Half-value layer (HVL) was measured by Fluke TNT12000 ray detection tools,2 mm-thickness plate and aluminum sheets with different thicknesses,and then AGD was calculated accordingly.Results The spatial resolutions were all higher than 7 lp/mm and proved to meet the quality standard,which had the vertical spatial resolution being 8 lp/mm,the maximum value of the lateral spatial resolution being 10 lp/mm and the minimum value being 8 lp/mm.AGD was lower than 2 mGy and then proved qualified which was limited within 0.60 and 0.61 mGy.Conclusion The test of spatial resolution and AGD of full digital mammography system can assess the performance and radiation dose,reflect the performance of equipment,ensure image quality and lower radiation dose.