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.Advances on effects of combined exposure to particulate matter and noise on cognitive function
Yijun WEI ; Zheyu HUANG ; Lihua HE ; Yun WANG
Journal of Environmental and Occupational Medicine 2026;43(6):778-785
With the accelerated global population aging and urbanization, cognitive dysfunction has become a major public health challenge. Epidemiological evidence indicates that long-term exposure to particulate matter and environmental noise are independent risk factors for cognitive decline, and recent studies suggest that their combined exposure may exert a synergistic amplifying effect. This review summarized the progress in epidemiological research on the impacts of particulate matter and noise exposure on cognitive function, specifically focusing on the synergistic effects of their combined exposure. Furthermore, it outlined common biological mechanisms such as neuroinflammation, oxidative stress, and vascular endothelial damage. However, while existing studies have preliminarily revealed the synergistic effects of combined particulate matter and noise exposure on cognitive function, the conclusions remain heterogeneous, and the investigation of underlying mechanisms is still insufficient. Future research should prioritize refined exposure assessment, long-term cohort studies, and specific high-exposure occupational scenarios, and carry out further in-depth investigations, thereby providing a basis for health risk assessment and the development of intervention strategies.
3.Determination of contezolid in human cerebro spinal fluid by UPLC-MS/MS
Ju-ping YUN ; Zi-he WANG ; Wen-jing WANG ; Wei LIU
The Chinese Journal of Clinical Pharmacology 2025;41(1):91-95
Objective To establish a method for determining the concentration of contezolid in human cerebro spinal fluid(CSF)using ultra high performance liquid chromatography tandem mass spectrometry(UPLC-MS/MS).Methods Linezolid as the internal standard(IS)and acetonitrile as the protein precipitant.Waters ACQUITY UPLC? BEH C18(2.1 mm × 50.0 mm,1.7 μm)chromatographic column was used for separation,with a mobile phase of 0.1%formic acid aqueous solution-0.1%formic acid acetonitrile solution,gradient elution method,flow rate was 0.4 mL·min-1,column temperature was 40 ℃,automatic sampler temperature was 10 ℃,the analysis time was 4 minutes.Electrospray ion source,positive ion mode,and multi-reaction monitoring scanning mode were used.The monitoring and analysis ion pairs for contezolid were m/z 409.15→269.14,and the monitoring ion pairs for linezolid were m/z 338.14 → 195.10.The specificity,standard curve and lower limit of quantification(LLOQ),precision and recovery rate,matrix effect,residual effect,dilution effect and stability of the method were investigated.Results The endogenous substances in CSF do not interfere with the determination of the analyte contezolid and the internal standard linezolid,and the method has good specificity.Satisfactory linearity was observed within the concentration range of 20-5 000 ng·mL-1 for contezolid in CSF,the calibration curve was y=8.97 × 10-4x+1.95 × 10-2(r=0.999 1),and the LLOQ was 20 ng·mL-1.Precision of the intra-batch and inter-batch relative standard deviation(RSD)<15%,and the extraction recovery were 90.96%-98.71%.The average normalized matrix effect factor of the quality control CSF sample were 94.39%-100.25%.The RSD of dilution effect<15%.The CSF samples of contezolid were stored at room temperature,in the automatic sampler for 72 hours,-20 ℃ and-80 ℃ for 90 days,and subjected to repeated freezing and thawing three times,were stable with all of which the RSD<10%.Conclusion This method is high sensitivity,rapid,simple and accurate,which is very suitable for the therapeutic drug monitoring of contezolid in human CSF.
4.Expert consensus on holistic integrative management of oral squamous cell carcinoma
Moyi SUN ; Zongxuan HE ; Haoyue XU ; Xiaoying LI ; Jie ZHANG ; Haijun LU ; Xiaohong ZHAN ; Dapeng HAO ; Shizhu BAI ; Wei GUO ; Zhangui TANG ; Guoxin REN ; Jian MENG ; Zhijun SUN ; Jichen LI ; Yue HE ; Chunjie LI ; Lizheng QIN ; Kai YANG ; Qing XI ; Lin KONG ; Bing HAN ; Lingxue BU ; Yuanyong FENG ; Kai SONG ; Hongyu HAN ; Jieying LI ; Qianwei NI ; Yun LI ; Juan CHAI ; Xiaochen YANG ; Man HU ; Mingjin XU ; Wei SHANG
Journal of Practical Stomatology 2025;41(4):437-449
Oral squamous cell carcinoma(OSCC)is a malignant lesion originating from the oral mucosal squamous epithelium,account-ing for over 80%of oral and maxillofacial malignancies.Key etiological factors include tobacco,alcohol abuse,and betel quid chewing.In China,its incidence has shown an overall upward trend,posing a significant threat to public health.OSCC exhibits high local invasive-ness,making early diagnosis critical for improving prognosis.Its clinical management requires close multidisciplinary collaboration among oral and maxillofacial surgery,head and neck surgery,radiation oncology,medical oncology,reconstructive surgery,radiology,patholo-gy,and nutritional support teams.Given the increasing disease burden of OSCC and rapid development of multidisciplinary collaborative models,an expert panel has formulated this integrated management consensus based on evidence-based medicine and extensive deliber-ation.Centered on the'Prevention-Screening-Diagnosis-Treatment-Rehabilitation'framework,the consensus provides comprehensive guidance for the entire disease course of OSCC patients,aiming to standardize clinical practice.
5.Treatment and mechanism of chrysoeriol on pulmonary hypertension based on network pharmacology and experimental study
Ying-fang MA ; Meng CAI ; Dan FENG ; Yang GUO ; Yu-he TIAN ; Yun-hua ZHANG ; Li-li WEI ; Yang WANG ; Jun-qiang SI
Chinese Pharmacological Bulletin 2025;41(11):2167-2176
Aim To investigate the effect of chrysoeriol on pulmonary vascular remodeling in pulmonary hyper-tension by animal experiments combined with cell ex-periments,and to explore its potential therapeutic tar-gets by network pharmacology.Methods The target of chrysoeriol was collected in Targetnet,SEA and SwissTargetPrediction database.Pulmonary arterial hy-pertension(PAH)targets were collected in the Dis-GeNET and GeneCards databases,and PPI network map was drawn in the STRING database,and key tar-gets were screened.The GO and KEGG pathway en-richment analysis was carried out through DAVID data-base and Weishengxing platform.AutoDock software was used for molecular docking of key core targets.The PAH model of rats was constructed,and the pulmo-nary hemodynamics and vascular remodeling were de-tected by echocardiography,HE and Masson staining.Primary pulmonary smooth muscle cells were extracted,and the effects of drugs on pathway proteins were de-tected in vitro.Results The results of network phar-macology showed that chrysoeriol exerted therapeutic effects on pulmonary hypertension by affecting key tar-gets such as AKT1,SRC,EGFR,MMP9 and gsk3 β,and signaling pathways such as EGFR and PI3K-AKT.Molecular docking showed that chrysoeriol had good binding ability with 5 key target genes.Animal experi-ments showed that the pulmonary hemodynamic func-tion of PAH rats was significantly improved after ad-ministration of chrysoeriol.The remodeling of small pulmonary arteries was significantly reduced.Cell ex-periments showed that chrysoeriol could inhibit the ex-pression of proliferation,migration and phenotypic transformation genes.Conclusion Chrysoeriol may play a role in the treatment of pulmonary hypertension through multiple targets.
6.Proton beam range verification algorithm for pixelated prompt gamma-ray imaging detector
Liwang YANG ; Haifeng OU ; Jinlong WANG ; Xiaoguang WU ; Ziyang HE ; Jian'an ZOU ; Yun ZHENG ; Congbo LI ; Shaoxiong GUAN ; Jing SHI ; Jinze LI ; Yunqiu LI ; Rui HONG ; Hao'en CHANG ; Mengting WANG ; Kaijie WEI
Chinese Journal of Medical Physics 2025;42(3):281-287
In proton therapy,prompt gamma-ray imaging is considered as one of the most promising methods for assessing proton beam range.Prompt gamma-ray imaging detector evaluates the proton beam range based on the prompt gamma-ray distribution obtained by the prompt gamma-ray imaging system,which enables high-precision measurement of the proton beam range.Herein a proton beam range verification algorithm is designed for the newly developed prototype of the range verification detector(pixelated prompt gamma-ray imaging detector),which verifies the range estimation accuracy of the prototype for different phantoms and different energies of homogeneous media through Monte Carlo simulation.The results show that the accuracy of the proton beam range verification algorithm is within 0.5 mm of the safety margin error of the Bragg peak,and the measurement accuracy is significantly improved with the increase of the number of protons,indicating that the prototype algorithm is feasible for proton beam range verification.
7.Chemical constituents from ethyl acetate fraction of Balanophora harlandii and their tyrosinase inhibitory activity
Zhang-xian CHEN ; Hai-ming WANG ; Yun-tao ZHANG ; Mao-xin DENG ; Kui-lin ZHU ; Jin-lian ZOU ; Jian WANG ; Shan-shan WEI ; Hong-ping HE ; Fa-wu DONG
Chinese Traditional Patent Medicine 2025;47(10):3290-3297
AIM To study the chemical constituents from ethyl acetate fraction of Balanophora harlandii Hook.f.and their tyrosinase inhibitory activity.METHODS Separation and purification were performed using silica gel,MCI,ODS,Sephadex LH-20 and semi-preparative HPLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The monophenolase inhibitory activity was determined by the tyrosinase-catalyzed oxidation of L-tyrosine.RESULTS Twenty-four compounds were isolated and identified as sesamin(1),methyl caffeate(2),quercetin(3),5,7-dihydroxychromanone(4),methyl 3,4-dihydroxybenzoate(5),esculetin(6),kaempferol(7),naringenin(8),pyrogallic acid(9),pinosylvin(10),methyl propionate(11),caffeic acid(12),saccharinol(13),ferulic acid(14),trans-p-hydroxycinnamic acid(15),cinnamic acid(16),vanillic acid(17),vanillin(18),4-hydroxyacetophenone(19),4-hydroxybenzaldehyde(20),apigenin(21),(-)-isolariciresinol(22),(-)-secoisolariciresinol(23)and meso-2,3-di(3′,4′-methylenedioxybenzyl)butane-1,4-diol(24).The IC50 values of compounds 3,5,7,8,19,and 20 ranged from(0.246 5±0.028 3)to(1.278 2±0.021 3)mmol/L.CONCLUSION Compounds 1-9、11、15、17-21、24 are isolated from this plant for the first time,and 1,6,9,17-19,24 are first isolated from genus Balanophora.Compounds 3、5、7、8、19 and 20 have tyrosinase inhibitory activity.
8.Proton beam range verification algorithm for pixelated prompt gamma-ray imaging detector
Liwang YANG ; Haifeng OU ; Jinlong WANG ; Xiaoguang WU ; Ziyang HE ; Jian'an ZOU ; Yun ZHENG ; Congbo LI ; Shaoxiong GUAN ; Jing SHI ; Jinze LI ; Yunqiu LI ; Rui HONG ; Hao'en CHANG ; Mengting WANG ; Kaijie WEI
Chinese Journal of Medical Physics 2025;42(3):281-287
In proton therapy,prompt gamma-ray imaging is considered as one of the most promising methods for assessing proton beam range.Prompt gamma-ray imaging detector evaluates the proton beam range based on the prompt gamma-ray distribution obtained by the prompt gamma-ray imaging system,which enables high-precision measurement of the proton beam range.Herein a proton beam range verification algorithm is designed for the newly developed prototype of the range verification detector(pixelated prompt gamma-ray imaging detector),which verifies the range estimation accuracy of the prototype for different phantoms and different energies of homogeneous media through Monte Carlo simulation.The results show that the accuracy of the proton beam range verification algorithm is within 0.5 mm of the safety margin error of the Bragg peak,and the measurement accuracy is significantly improved with the increase of the number of protons,indicating that the prototype algorithm is feasible for proton beam range verification.
9.Expert consensus on holistic integrative management of oropharyngeal squamous cell carcinoma
Moyi SUN ; Zongxuan HE ; Qianwei NI ; Xiaoying LI ; Lin KONG ; Qing XI ; Wei GUO ; Zhangui TANG ; Guoxin REN ; Zhijun SUN ; Jian MENG ; Jie ZHANG ; Jichen LI ; Yue HE ; Chunjie LI ; Lizheng QIN ; Kai YANG ; Bing HAN ; Yan SUN ; Haijun LU ; Xiaohong ZHAN ; Dapeng HAO ; Kai SONG ; Haoyue XU ; Lingxue BU ; Jieying LI ; Man HU ; Mingjin XU ; Yun LI ; Wei SHANG
Journal of Practical Stomatology 2025;41(3):293-304
Oropharyngeal squamous cell carcinoma(OPSCC)is a malignant tumor originating from the squamous epithelium of the oro-pharyngeal mucosa,accounting for more than 90%of oropharyngeal malignancies.In recent years,human papillomavirus(HPV)infec-tion has become one of the primary etiological factors of oropharyngeal squamous carcinoma.The incidence of HPV-associated oropharyn-geal squamous carcinoma has been rising annually,with a noticeable trend toward younger populations,posing a significant threat to hu-man health.Due to the distinct biological behavior and clinical characteristics of HPV-associated oropharyngeal squamous carcinoma com-pared to its non-HPV-related counterpart,the diagnostic and treatment strategies for oropharyngeal squamous carcinoma have undergone substantial changes.Prevention and screening for oropharyngeal squamous carcinoma are of critical importance.The diagnostic and treat-ment process involves multi-disciplinary collaboration,including oral and maxillofacial surgery,otolaryngology,head and neck surgery,oncology,radiology and pathology.Based on evidence from clinical practice,a comprehensive,integrated diagnostic and therapeutic ap-proach has been established,centered around the concept of"prevention,screening,diagnosis,treatment,and rehabilitation",covering the entire patient lifecycle and providing a valuable reference for clinical practice.
10.Mechanism of Kochia scoparia in treating osteoporosis based on network pharmacology and in vitro experiments
Wen-hui XU ; Wei WU ; Zheng ZHANG ; Ting-ting ZHANG ; Yun-he LIU ; Fan YANG
Chinese Pharmacological Bulletin 2025;41(9):1769-1776
Aim To investigate the pharmacological effects of Kochia scoparia in treating osteoporosis(OP)and explore its therapeutic mechanisms using network pharmacology methods and in vitro experiments.Meth-ods The main chemical components and the targets of Kochia scoparia were screened through literature que-ries and databases such as SwissTargetPrediction.Dis-ease targets for osteoporosis were mined using Gene-Cards and OMIM databases with"osteoporosis"as the keyword,and the intersection of the two was taken to obtain the targets for Kochia scoparia in treating osteo-porosis.The STRING database was applied to construct the core target protein-protein interaction network,the DAVID database was utilized for functional and signa-ling pathway enrichment analysis to further explore the therapeutic effects of Kochia scoparia on osteoporosis and the underlying mechanisms;molecular docking was performed using AutoDock software.Bone marrow mesenchymal stem cells(BMSCs)were cultured in vitro,and the effects of the active components of Kochia scoparia,Zingibroside R1,Chikusetsusaponin IVa,and Momordin Ic,on cell viability were detected by CCK-8.After osteogenic induction,osteogenic differentiation a-bility of BMSCs was detected by alkaline phosphatase staining and alizarin red staining;the expression of os-teogenic-related protein RUNX2 was detected by West-ern blot.Results A total of 573 targets related to Kochia scoparia and 5 774 targets related to osteoporo-sis were screened,with 346 intersection targets between them.KEGG pathway enrichment mainly included cancer pathways,PI3K-AKT signaling pathways,and HIF-1 signaling pathways,etc.The main core targets included TNF,AKT1,SRC,STAT3,EGFR,HIF-1α,etc.The active components of Kochia scoparia signifi-cantly promoted the osteogenic differentiation ability of BMSCs.Conclusions The multi-component,multi-target,and multi-pathway mechanisms of Kochia scopar-ia in the treatment of osteoporosis were preliminarily e-lucidated,providing new ideas for further research on the mechanisms of Kochia scoparia in treating osteopo-rosis.

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