OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.

Juvenile idiopathic arthritis (JIA) is the most common condition of chronic rheumatic disease in children. JIA is an autoimmune or autoinflammatory disease, with unclear mechanism and limited treatment efficacy. Recent studies have found a number of alterations in gut microbiota and its metabolites in children with JIA, which are related to the development and progression of JIA. This review focuses on the influence of the gut microbiota and its metabolites on immune function and the intestinal mucosal barrier and discuss the key role of the gut-joint axis in the pathogenesis of JIA and emerging treatment methods based on gut microbiota and its metabolites. This review could help elucidate the pathogenesis of JIA and identify the potential therapeutic targets for the prevention and treatment of JIA.
Humans ; Arthritis, Juvenile/physiopathology* ; Gastrointestinal Microbiome/physiology* ; Child ; Intestinal Mucosa

This study developed a core outcome set(COS) for traditional Chinese medicine(TCM) interventions in diabetic peripheral neuropathy(DPN), standardizing evaluation metrics for TCM efficacy and providing a new framework for DPN treatment and management. A systematic search was conducted across databases, including CNKI, Wanfang, and PubMed, targeting clinical trial literature published between January 1, 2013, and January 1, 2023. The search focused on extracting outcome indicators and measurement tools used in TCM treatments for DPN. Retrospective data collection was performed from January 2018 to June 2023, involving 200 DPN patients hospitalized at the Department of Endocrinology of the First Affiliated Hospital of Anhui University of Chinese Medicine. Additionally, semi-structured interviews were conducted with inpatients, outpatients, their families, and nursing staff to further refine and enhance the list of outcome indicators. After two rounds of Delphi questionnaire survey and consensus meeting, a consensus was reached. The study initially retrieved 3 421 publications, of which 170 met the inclusion criteria after review. These publications, combined with retrospective analysis and semi-structured interviews, supplemented the list of indicators. After two rounds of Delphi surveys, experts agreed on 24 indicators and 6 measurement tools. The final COS determined by expert consensus meeting included 5 domains and 13 outcome indicators: neurological function signs, quality of life, TCM syndrome score, nerve conduction velocity, current perception threshold test, fasting blood glucose, 2 h postprandial blood glucose, glycated hemoglobin, complete blood count, urinalysis, liver function test, kidney function test, and electrocardiogram.
Humans ; Diabetic Neuropathies/drug therapy* ; Medicine, Chinese Traditional/methods* ; Drugs, Chinese Herbal/therapeutic use* ; Retrospective Studies ; Treatment Outcome ; Male ; Female

With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.

Objective:To explore the coupling and coordination relationship between long-term care resources and population and economic development in Shanghai,and to provide a basis for optimizing the allocation of long-term care resources and the coordinated development of the system.Methods:Based on the coupling coordination theory,the evaluation system of long-term care resources,economic development and population structure was constructed,and the comprehensive evaluation index (U value) of each subsystem was analyzed from 2019 to 2021,and the coordination of the system was evaluated by combining the coupling degree ( C value ) and coupling coordination degree (D value).Results:In 2019,population structure (U3=0.344) led,long-term care resources (U1=0.160) and economic development (U2=0.240) lagged,and system coordination was poor (D=0.486).In 2020,long-term care resources (U1=0.593) increased,outpacing economy (U2=0.175) and population (U3=0.318),and system coordination improved (D=0.566).In 2021,economic development (U2=0.890) leads,long-term care resources (U1=0.653) and population structure (U3=0.574) lag behind,but system coordination is significantly improved ( D=0.833 ) .Conclusion:From 2019 to 2021,the overall development of the three subsystems of long-term care resources,population and economic development in Shanghai was good and showed dynamic changes,with strong coupling among the subsystems but insufficient coordination.In the future,we should strengthen the dynamic,coordinated adjustment and continuous monitoring of the system,optimize policies and resource allocation,and promote the coordinated and sustainable development of long-term care and population and economic resources.

Objective:To explore the coupling and coordination relationship between long-term care resources and population and economic development in Shanghai,and to provide a basis for optimizing the allocation of long-term care resources and the coordinated development of the system.Methods:Based on the coupling coordination theory,the evaluation system of long-term care resources,economic development and population structure was constructed,and the comprehensive evaluation index (U value) of each subsystem was analyzed from 2019 to 2021,and the coordination of the system was evaluated by combining the coupling degree ( C value ) and coupling coordination degree (D value).Results:In 2019,population structure (U3=0.344) led,long-term care resources (U1=0.160) and economic development (U2=0.240) lagged,and system coordination was poor (D=0.486).In 2020,long-term care resources (U1=0.593) increased,outpacing economy (U2=0.175) and population (U3=0.318),and system coordination improved (D=0.566).In 2021,economic development (U2=0.890) leads,long-term care resources (U1=0.653) and population structure (U3=0.574) lag behind,but system coordination is significantly improved ( D=0.833 ) .Conclusion:From 2019 to 2021,the overall development of the three subsystems of long-term care resources,population and economic development in Shanghai was good and showed dynamic changes,with strong coupling among the subsystems but insufficient coordination.In the future,we should strengthen the dynamic,coordinated adjustment and continuous monitoring of the system,optimize policies and resource allocation,and promote the coordinated and sustainable development of long-term care and population and economic resources.

Based on the strategy of metabolomics combined with bioinformatics, this study analyzed the potential allergens and mechanism of pseudo-allergic reactions (PARs) induced by the combined use of Reduning injection and penicillin G injection. All animal experiments and welfare are in accordance with the requirements of the First Affiliated Experimental Animal Ethics and Animal Welfare Committee of Henan University of Chinese Medicine (approval number: YFYDW2020002). Based on UPLC-Q-TOF/MS technology combined with UNIFI software, a total of 21 compounds were identified in Reduning and penicillin G mixed injection. Based on molecular docking technology, 10 potential allergens with strong binding activity to MrgprX2 agonist sites were further screened. Metabolomics analysis using UPLC-Q-TOF/MS technology revealed that 34 differential metabolites such as arachidonic acid, phosphatidylcholine, phosphatidylserine, prostaglandins, and leukotrienes were endogenous differential metabolites of PARs caused by combined use of Reduning injection and penicillin G injection. Through the analysis of the "potential allergen-target-endogenous differential metabolite" interaction network, the chlorogenic acids (such as chlorogenic acid, neochlorogenic acid, cryptochlorogenic acid, and isochlorogenic acid A) and β-lactam allergens in the combination of the two may be mainly regulated by PLD1, PLA2G12A and CYP1A1. The three upstream signal target proteins mainly activate the arachidonic acid metabolic pathway, promote the degranulation of mast cells, release downstream endogenous inflammatory mediators, and induce PARs.

Objective:To evaluate the incidence and case fatality rate of cardiovascular disease (CVD) among populations in urban and rural communities in eastern, central and western regions of China.Methods:The present study was based on the data of the Prospective Urban and Rural Epidemiology (PURE)-China cohort, which enrolled participants who had at least one follow-up visit and complete information on age and sex. Information on baseline demographics, cardiovascular risk factors, and prevention and treatment for CVD were collected. CVD and mortality events were documented using the standardized case report form of the PURE Global Study to assess the incidence and case fatality rate of CVD among populations in urban and rural communities in eastern, central and western China.Results:This study included a total of 47 262 community-dwelling participants (age: (51.1±9.6) years; female, n=27 529, 58.2%) from 115 urban and rural communities in 12 provinces across the eastern, central, and western regions of China. Over a follow-up period of 11.9 (9.5, 12.6) years, 2 686 deaths and 5 873 cardiovascular events were documented. The incidence of CVD was 11.90 (95%CI: 11.60-12.21)/1 000 person-years. A significant difference in CVD incidence was observed across regions ( Ptrend<0.001), which was highest in the western provinces (13.99 (95% CI: 13.33-14.65)/1 000 person-years), intermediate in the eastern provinces (11.92 (95% CI: 11.52-12.33)/1 000 person-years), and lowest in the central provinces (8.87 (95% CI: 8.25-9.50)/1 000 person-years). The 1-year case fatality rate of CVD demonstrated an increasing trend from eastern to western regions (eastern: 10.20% (95% CI: 6.95-14.73); central: 13.50% (95% CI: 9.90-18.14); western: 18.62% (95% CI: 14.95-22.94); Ptrend<0.001). Moreover, the incidence of major CVD was consistently higher in rural areas compared with urban areas across eastern ( P<0.001), central ( P=0.01) and western ( P<0.001)_regions, respectively. The 1-year case fatality rate in rural areas was also significantly higher compared with that in urban areas in both eastern ( P<0.001) and western regions ( P=0.02). Conclusions:The incidence and case fatality rate of CVD were high among middle-aged population in China, especially those in western regions with low socioeconomic levels and in rural areas.

The biological characteristics and pathogenicity of Klebsiella oxytoca isolated from sick carrier pigeons in Gansu province were explored by morphological observations,biochemical testing,16S rRNA PCR analysis,and RNA sequencing.The drug resistance and pathogenicity of the isolated strains were studied by histopathological observation,drug susceptibility testing,and pathogenicity analysis.The livers,lungs,hearts,and other organs of the sick pigeons were bleeding.In addition,the livers were yellow and brittle,and the lungs were purulent.A Gram-negative,short,rod-shaped bacterium was successfully isolated from the sick pigeon.Pink,smooth,moist,and round colonies grew on MacConkey's agar.The result of the indigo matrix test was positive.The homology between the amplified 16S rRNA sequence and MN330093.1 was 100.00％,indicating that the sick pigeon was infected with K.oxytoca.The strain was named GS-BY-GG.K.Oxytoca GS-BY-GG was resistant to 10 drugs,including penicillin,ampicillin,and furazolidone,and sensitive to 5 others,which included florfenicol,meropenem,and gentamicin.Histopathological observation showed bleeding in multiple organs.The liver cells were irregu-larly arranged with brown-yellow pigmentation.Extensive cell necrosis and exfoliation were observed in the trachea and mucosal epithelium,with inflammatory cell infiltration in the mucosal layer.The isolates were highly pathogenic in specific pathogen-free chickens.These findings provide support for the clinical diagnosis and control of K.oxytoca GS-BY-GG.