1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Incidence of injuries among primary and middle school students in Yunnan Province: a cross-sectional study
LI Jianyun ; WU Yinghan ; YANG Yunjuan ; DAI Linshu ; LI Huiyu ; WEI Yilei
Journal of Preventive Medicine 2026;38(9):865-869
Objective:
To investigate the incidence and influencing factors of injuries among primary and middle school students in Yunnan Province, so as to provide evidence for prevention and control of injuries among children and adolescents.
Methods:
From June to August 2025, primary and middle school students from 36 schools in 3 autonomous prefectures and 5 autonomous counties (districts) in Yunnan Province were selected as survey subjects by the multi-stage stratified random cluster sampling method. Data on demographic characteristics, family environment and the incidence of injuries in the past 12 months were collected through questionnaire surveys. Data on regional economic level, air quality, annual average temperature and average altitude were obtained from the 2024 Yunnan Statistical Yearbook, the China National Environmental Monitoring Center, the China Meteorological Data Network and the Geospatial Data Cloud platform. A multivariable logistic regression model was used to analyze influencing factors of injuries among primary and middle school students.
Results:
A total of 2 630 questionnaires were distributed, and 2 627 valid questionnaires were recovered, with a questionnaire validity rate of 99.89%. There were 1 271 boys (48.38%) and 1 356 girls (51.62%), with a mean age of (12.35±1.79) years. A total of 1 348 primary school students (51.31%) and 1 279 middle school students (48.69%) were enrolled. A total of 1 871 students experienced injuries in the past 12 months, with an incidence of 71.22%. Multivariable logistic regression analysis showed that boys (OR=1.321, 95%CI: 1.110-1.571), students from non-intact families (OR=1.327, 95%CI: 1.098-1.603), students whose mothers had non-farming occupations (OR=1.426, 95%CI: 1.111-1.828), those exposed to areas with good air quality index (OR=1.582, 95%CI: 1.138-2.199), fewer than 20 days per month with good or excellent air quality (OR=1.726, 95%CI: 1.293-2.304), high annual average temperature (OR=1.474, 95%CI: 1.161-1.873), and high average altitude (OR=1.628, 95%CI: 1.327-1.998) were associated with higher risk of injuries incidence among primary and middle school students.
Conclusions
The incidence of injuries among primary and middle school students in Yunnan Province was relatively high and was jointly influenced by demographic characteristics, family environment and environmental exposure factors. Injury prevention and intervention should consider the environmental characteristics of different regions and strengthen injury-related health education and risk management among children and adolescents.
3.Facilitation of mucosal healing by estrogen receptor β in ulcerative colitis through suppression of branched-chain amino acid transport and subsequent triggering of autophagy in colonic epithelial cells.
Yilei GUO ; Yanrong ZHU ; Jing ZHANG ; Yue HE ; Mianjiang ZHAO ; Haochang LIN ; Zhifeng WEI ; Yufeng XIA ; Yue DAI
Acta Pharmaceutica Sinica B 2025;15(1):168-187
Colonic mucosal healing is the ultimate goal of ulcerative colitis (UC) treatment, but it remains difficult to realize. Given the higher incidence of UC in males and the beneficial effect of estrogen on UC, we conducted this study to examine the therapeutic potential of estrogen receptor β (ERβ), the primary ER subtype in colon, on mucosal healing in UC. Our study is the first to report that ERβ activation degree was positively correlated with mucosal healing in patients with UC. Furthermore, ERβ activation enhanced mucosal healing in mice with dextran sulfate sodium-induced and biopsy-induced colonic injuries. Mechanistically, ERβ activation promoted autophagy of colonic epithelial cells by inhibiting branched-chain amino acid transport, leading to focal adhesion kinase (FAK) activation. Activated FAK promoted focal adhesion turnover and colonic epithelial cell migration, ultimately facilitating mucosal healing. ERβ -/- colitis mice exhibited impaired mucosal healing compared to wild-type littermates, highlighting the crucial effect of ERβ. Importantly, combination with ERβ-agonist diarylpropionitrile enhanced the amelioration of 5-aminosalicylic acid, a standard UC treatment agent, against mouse colitis. These findings attest to the crucial role of ERβ activation in colonic mucosal healing and may further inform the development of novel strategies for UC treatment.
4.A critical role for Phocaeicola vulgatus in negatively impacting metformin response in diabetes.
Manyun CHEN ; Yilei PENG ; Yuhui HU ; Zhiqiang KANG ; Ting CHEN ; Yulong ZHANG ; Xiaoping CHEN ; Qing LI ; Zuyi YUAN ; Yue WU ; Heng XU ; Gan ZHOU ; Tao LIU ; Honghao ZHOU ; Chunsu YUAN ; Weihua HUANG ; Wei ZHANG
Acta Pharmaceutica Sinica B 2025;15(5):2511-2528
Metformin has been demonstrated to attenuate hyperglycaemia by modulating the gut microbiota. However, the mechanisms through which the microbiome mediates metformin monotherapy failure (MMF) are unclear. Herein, in a prospective clinical cohort study of newly diagnosed type 2 diabetes mellitus (T2DM) patients treated with metformin monotherapy, metagenomic sequencing of faecal samples revealed that Phocaeicola vulgatus abundance was approximately 12 times higher in nonresponders than in responders. P. vulgatus rapidly hydrolysed taurine-conjugated bile acids, leading to ceramide accumulation and reversing the improvements in glucose intolerance conferred by metformin in high-fat diet-fed mice. Interestingly, C22:0 ceramide bound to mitochondrial fission factor to induce mitochondrial fragmentation and impair hepatic oxidative phosphorylation in P. vulgatus-colonized hyperglycaemic mice, which could be exacerbated by metformin. This work suggests that metformin may be unsuitable for P. vulgatus-rich T2DM patients and that clinicians should be aware of metformin toxicity to mitochondria. Suppressing P. vulgatus growth with cefaclor or improving mitochondrial function using adenosylcobalamin may represent simple, safe, effective therapeutic strategies for addressing MMF.
5.Formulation and Explanation of the Standards for Hospital Pharmacy Research
Yan LI ; Shiting LIU ; Yilei LI ; Wei ZHANG ; Weiyi FENG ; Yalin DONG ; Rongsheng ZHAO ; Wan-sheng CHEN ; Houwen LIN ; Jin LU ; Boxin ZHAO ; Xin HUANG ; Jiancun ZHEN
Herald of Medicine 2025;44(5):716-719
Hospital pharmacy research is significant in enhancing the level of rational drug use,improving the quality of pharmacy services,and promoting the improvement of drug treatment effects.To guarantee the standardization of hospital pharmacy research,the compilation team of"Hospital Pharmacy Research Standards"adheres to the principles of scientificity,universality,guidance,and operability,combs through the key management contents from three aspects,namely,relevant national policy docu-ments,relevant domestic and international standards and norms,and literature analysis,combines with the actual working condition of hospital pharmacy research,and formulates the standards after several rounds of opinion collection and expert argumentation.This paper analyzes the key contents of the standard,including basic requirements,research process management,and research re-sults management,to provide guidance and reference for hospital pharmacy researchers to understand the standard in-depth and further improve the standardization of hospital pharmacy research.
6.Analysis of the Interaction Effect between the"New Talent Policy"and the Retention of Grassroot Health Personnel
Zhaoxu LI ; Lifeng WEI ; Yilei ZHAO
Chinese Hospital Management 2025;45(12):48-50
Objective To analyze the interaction effect between the new talent policy and the retention of healthcare personnel,and propose suggestions for improving talent administration.Methods Grassroot health personnel in 12 prefecture level cities in Zhejiang,Sichuan,and Henan Provinces were selected as the research subjects.Policy text analysis and multilevel linear models were used to analyze the interaction effect between talent policies and healthcare workforce retention.Results A total of 2 156 grassroots health personnel completed the survey.The completeness of policy tools had a significant positive impact on retention(coefficient=0.23,P<0.001),and the stability of institutional environment also showed a positive impact(coefficient=0.18,P=0.002);Meanwhile,the stability of the institutional environment positively moderated the relationship between occupational commitment and retention(interaction coefficient=0.12,P=0.003).lndividuals with high human capital were more susceptible to the influence of career development tools(coefficient=0.27,P<0.001),while those with low human capital relied more on basic security tools(coefficient=0.21,P<0.001).Conclusion The interactive effect between the new talent policy and the retention of grassroots health personnel was confirmed.The new talent policy should focus on improving the completeness of policy tools and the stability of the institutional environment.
7.Formulation and Explanation of the Standards for Hospital Pharmacy Research
Yan LI ; Shiting LIU ; Yilei LI ; Wei ZHANG ; Weiyi FENG ; Yalin DONG ; Rongsheng ZHAO ; Wan-sheng CHEN ; Houwen LIN ; Jin LU ; Boxin ZHAO ; Xin HUANG ; Jiancun ZHEN
Herald of Medicine 2025;44(5):716-719
Hospital pharmacy research is significant in enhancing the level of rational drug use,improving the quality of pharmacy services,and promoting the improvement of drug treatment effects.To guarantee the standardization of hospital pharmacy research,the compilation team of"Hospital Pharmacy Research Standards"adheres to the principles of scientificity,universality,guidance,and operability,combs through the key management contents from three aspects,namely,relevant national policy docu-ments,relevant domestic and international standards and norms,and literature analysis,combines with the actual working condition of hospital pharmacy research,and formulates the standards after several rounds of opinion collection and expert argumentation.This paper analyzes the key contents of the standard,including basic requirements,research process management,and research re-sults management,to provide guidance and reference for hospital pharmacy researchers to understand the standard in-depth and further improve the standardization of hospital pharmacy research.
8.Analysis of the Interaction Effect between the"New Talent Policy"and the Retention of Grassroot Health Personnel
Zhaoxu LI ; Lifeng WEI ; Yilei ZHAO
Chinese Hospital Management 2025;45(12):48-50
Objective To analyze the interaction effect between the new talent policy and the retention of healthcare personnel,and propose suggestions for improving talent administration.Methods Grassroot health personnel in 12 prefecture level cities in Zhejiang,Sichuan,and Henan Provinces were selected as the research subjects.Policy text analysis and multilevel linear models were used to analyze the interaction effect between talent policies and healthcare workforce retention.Results A total of 2 156 grassroots health personnel completed the survey.The completeness of policy tools had a significant positive impact on retention(coefficient=0.23,P<0.001),and the stability of institutional environment also showed a positive impact(coefficient=0.18,P=0.002);Meanwhile,the stability of the institutional environment positively moderated the relationship between occupational commitment and retention(interaction coefficient=0.12,P=0.003).lndividuals with high human capital were more susceptible to the influence of career development tools(coefficient=0.27,P<0.001),while those with low human capital relied more on basic security tools(coefficient=0.21,P<0.001).Conclusion The interactive effect between the new talent policy and the retention of grassroots health personnel was confirmed.The new talent policy should focus on improving the completeness of policy tools and the stability of the institutional environment.
9.Safety of early antiplatelet therapy for non-cardioembolic mild stroke patients with thrombocytopenia
Dongjuan XU ; Huan ZHOU ; Mengmeng HU ; Yilei SHEN ; Hongfei LI ; Lianyan WEI ; Jing XU ; Zhuangzhuang JIANG ; Xiaoli SHAO ; Zhenhua XI ; Songbin HE ; Min LOU ; Shaofa KE
Journal of Zhejiang University. Medical sciences 2024;53(2):175-183
Objective:To investigate the safety of early antiplatelet therapy for non-cardioembolic mild stroke patients with thrombocytopenia.Methods:Data of acute ischemic stroke patients with baseline National Institutes of Health Stroke Scale(NIHSS)score≤3 and a platelet count<100×109/L were obtained from a multicenter register.Those who required anticoagulation or had other contraindications to antiplatelet therapy were excluded.Short-term safety outcomes were in-hospital bleeding events,while the long-term safety outcome was a 1-year all-cause death.The short-term neurological outcomes were evaluated by modified Rankin scale(mRS)score at discharge.Results:A total of 1868 non-cardioembolic mild stroke patients with thrombocytopenia were enrolled.Multivariate regression analyses showed that mono-antiplatelet therapy significantly increased the proportion of mRS score of 0-1 at discharge(OR=1.657,95%CI:1.253-2.192,P<0.01)and did not increase the risk of intracranial hemorrhage(OR=2.359,95%CI:0.301-18.503,P>0.05),compared with those without antiplatelet therapy.However,dual-antiplatelet therapy did not bring more neurological benefits(OR=0.923,95%CI:0.690-1.234,P>0.05),but increased the risk of gastrointestinal bleeding(OR= 2.837,95%CI:1.311-6.136,P<0.01)compared with those with mono-antiplatelet therapy.For patients with platelet counts≤75×109/L and>90×109/L,antiplatelet therapy significantly improved neurological functional outcomes(both P<0.05).For those with platelet counts(>75-90)×109/L,antiplatelet therapy resulted in a significant improvement of 1-year survival(P<0.05).For patients even with concurrent coagulation abnormalities,mono-antiplatelet therapy did not increase the risk of various types of bleeding(all P>0.05)but improved neurological functional outcomes(all P<0.01).There was no significant difference in the occurrence of bleeding events,1-year all-cause mortality risk,and neurological functional outcomes between aspirin and clopidogrel(all P>0.05).Conclusions:For non-cardioembolic mild stroke patients with thrombocytopenia,antiplatelet therapy remains a reasonable choice.Mono-antiplatelet therapy has the same efficiency as dual-antiplatelet therapy in neurological outcome improvement with lower risk of gastrointestinal bleeding.
10.Population pharmacokinetics of mycophenolic acid in pediatric patients with primary IgA nephropathy
Juan CHEN ; Yanping GUAN ; Liangzhong SUN ; Yilei LI ; Haixia WEI ; Shouning ZHOU ; Yan CHEN ; Ping ZHENG
China Pharmacy 2024;35(1):69-74
OBJECTIVE To develop a population pharmacokinetic (PPK) model for mycophenolate mofetil active metabolite mycophenolic acid (MPA) in children with primary IgA nephropathy, explore the factors affecting the pharmacokinetic parameters of MPA, and provide a basis for clinical individualized therapy. METHODS Retrospective collection was conducted on 636 concentrations and clinical data from 47 pediatric patients with primary IgA nephropathy. PPK analysis was carried out by using the nonlinear mixed-effects model; the covariates were tested with a stepwise method. Goodness-of-fit plots, Bootstrap and visual predictive check were employed to evaluate the final model. RESULTS The pharmacokinetics of MPA in children with IgA nephropathy in vivo conformed to the first-order absorption and elimination two-compartment model (objective function value of 3 276.31). Covariate analysis suggested that body weight and albumin (ALB) levels were significant influencing factors on apparent clearance rate and apparent distribution volume. The typical values of PPK parameters of MPA in the final model were as follows: the central room had a distributed volume of 5.79 L, the clearance rate was 4.06 L/h, the volume of peripheral ventricular distribution was 430.93 L, the clearance rate between compartments was 15.40 L/h, the oral absorption rate constant was 1.29 h-1. After verification, most of the predicted corrected observed concentration points were within the 90% confidence interval of the predicted corrected simulated concentration, indicating that the MPA final model had good predictive performance. CONCLUSIONS The PPK model of MPA in children with primary IgA nephropathy is established in this study, identifying body weight and ALB levels are significant factors affecting MPA metabolism.


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