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.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.
3.Chemical constituents from salt-processed Litchi Semen and their antioxidant activities
Rui YIN ; Xing YANG ; Wei-mao DONG ; Xu-li DENG ; Yi-mou WANG ; Hong-chuan ZHANG ; Kui-lin ZHU ; Zhang-xian CHEN ; Hong-ping HE ; Fa-wu DONG
Chinese Traditional Patent Medicine 2025;47(2):480-486
AIM To study the chemical constituents from salt-processed Litchi Semen and their antioxidant activities.METHODS The 85%ethanol extract from salt-processed Litchi Semen was isolated and purified by silica gel,Sephadex LH-20,MCI,ODS and semi-preparative HPLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.DPPH and ABTS+free radical scavenging method were used to evaluate their antioxidant activities.RESULTS Fifteen compounds were isolated and identified as dehydrocostuslactone(1),ananosmoside A(2),funingensin A(3),(2S)-pinocembrin-7-O-(6-O-α-L-rhamnopyranosyl-β-D-glucopyranoside)(4),liquiritienin(5),quercetin(6),rutin(7),isorhamnetin-3-O-β-rutinoside(8),procyanidin A2(9),procyanidin A1(10),ethyl protocatechuate(11),5-hydroxymethylfurfural(12),di(2-ethyl-hexyl)phthalate(13),nicotinamide(14),(10E,15Z)-9,12,13-trihydroxyoctadeca-10,15-dienoic acid(15).Compounds 6-7,9-10 exhibited scavenging activities against DPPH radicals with IC50 values of(12.929±1.232),(14.104±0.946),(10.417±1.736),(6.944±0.030)μmol/L,respectively.Compounds 6-10 exhibited scavenging activities against ABTS+radicals with IC50 values of(21.952±0.577),(25.683±0.625),(22.970±1.336),(20.210±1.435),(18.725±0.324)μmol/L,respectively.CONCLUSION Compounds 1,5,14-15 are isolated from Litchi genus for the first time.Compounds 6-7,9-10 have strong in vitro antioxidant activities.
4.Chemical constituents from salt-processed Litchi Semen and their antioxidant activities
Rui YIN ; Xing YANG ; Wei-mao DONG ; Xu-li DENG ; Yi-mou WANG ; Hong-chuan ZHANG ; Kui-lin ZHU ; Zhang-xian CHEN ; Hong-ping HE ; Fa-wu DONG
Chinese Traditional Patent Medicine 2025;47(2):480-486
AIM To study the chemical constituents from salt-processed Litchi Semen and their antioxidant activities.METHODS The 85%ethanol extract from salt-processed Litchi Semen was isolated and purified by silica gel,Sephadex LH-20,MCI,ODS and semi-preparative HPLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.DPPH and ABTS+free radical scavenging method were used to evaluate their antioxidant activities.RESULTS Fifteen compounds were isolated and identified as dehydrocostuslactone(1),ananosmoside A(2),funingensin A(3),(2S)-pinocembrin-7-O-(6-O-α-L-rhamnopyranosyl-β-D-glucopyranoside)(4),liquiritienin(5),quercetin(6),rutin(7),isorhamnetin-3-O-β-rutinoside(8),procyanidin A2(9),procyanidin A1(10),ethyl protocatechuate(11),5-hydroxymethylfurfural(12),di(2-ethyl-hexyl)phthalate(13),nicotinamide(14),(10E,15Z)-9,12,13-trihydroxyoctadeca-10,15-dienoic acid(15).Compounds 6-7,9-10 exhibited scavenging activities against DPPH radicals with IC50 values of(12.929±1.232),(14.104±0.946),(10.417±1.736),(6.944±0.030)μmol/L,respectively.Compounds 6-10 exhibited scavenging activities against ABTS+radicals with IC50 values of(21.952±0.577),(25.683±0.625),(22.970±1.336),(20.210±1.435),(18.725±0.324)μmol/L,respectively.CONCLUSION Compounds 1,5,14-15 are isolated from Litchi genus for the first time.Compounds 6-7,9-10 have strong in vitro antioxidant activities.
5.Osthole protects APAP-induced liver injury in mice by inhibiting the TGF-β1/Smad pathway through upregulation of Tif1γ
Yiran HE ; Yang HE ; Guoyan DENG ; Zhiqiang FAN ; Zizhao TANG ; Feng WEI ; Linqi OUYANG
Chinese Journal of Clinical Pharmacology and Therapeutics 2025;30(7):889-898
AIM:To investigate the protective ef-fect of osthole(Ost)on APAP-induced liver injury in mice and its molecular mechanism.METHODS:We established the APAP-induced liver injury model in mice,and Ost was used to intervene.The expres-sion of AST,ALT,SOD,ROS,MDA,LDH,GSH-PX in mice plasma were detected by biochemical meth-od.HE staining was used to observe the changes of liver tissue structure.Immunofluorescence assay was used to detect the expression of Tif1γ and Smad4 in liver tissue.The mRNA expression of IL-1β,IL-6,TNF-α,Smad4,and Tif1γ were detected by qRT-PCR.Western blot was applied to assess the protein expression of Smad2/3 and pSmad2/3 in liver tissue.RESULTS:Compared with the control group,the liver structure destruction and hepato-cyte death was increased,ALT,AST,ROS,MDA and LDH were increased,while SOD and GSH-PX were decreased,and the mRNA expressions of IL-1β,IL-6 and TNF-α were increased in the model group.Compared with the model group,the Ost interven-tion group had improved liver structure and de-creased liver cell death;decreased ALT,AST,ROS,MDA and LDH,increased SOD and GSH-PX,and de-creased expression of IL-1β,IL-6 and TNF-α mRNA.Compared with the control group,liver tissues of model mice showed increased expression of pS-mad2/3,Smad4 protein and Smad4 mRNA,and de-creased Tif1γ protein and mRNA.Compared with the model group,the liver tissues of the Ost inter-vention group showed decreased expression of pS-mad2/3,Smad4 protein and Smad4 mRNA,and in-creased expression of Tif1γ protein and mRNA.CONCLUSION:Ost can improve liver function,re-duce oxidative stress and inflammatory reaction,and protect hepatocyte damage induced by APAP in mice,which may be related to the up-regulation of Tif1γ and inhibition of TGF-β1/Smad signaling pathway.
6.The relationship between multiple elements in urine and arsenic poisoning in populations exposed to drinking water arsenic in Inner Mongolia Autonomous Region
Yuchen GUO ; Binggan WEI ; Fan ZHAO ; Xinye LI ; Rui WANG ; Shuhui YIN ; Nan WU ; Lingling HE ; Zhen DI ; Kaiwen LIU ; Wei SONG ; Hui WANG ; Zhongbing ZHANG ; Danyu DENG ; Zhiwei GUO
Chinese Journal of Endemiology 2025;44(7):535-542
Objective:To study the relationship between the levels of multiple elements in urine and the risk of arsenic poisoning in populations exposed to drinking water arsenic in Inner Mongolia Autonomous Region (Inner Mongolia).Methods:From April 2023 to January 2024, a case-control study method was used to select 128 individuals with a residence time of ≥10 years in drinking water arsenic exposed areas in Inner Mongolia as study subjects. Eighty-one individuals diagnosed with arsenic poisoning were selected as the case group, and 47 healthy individuals were selected as the control group for urine sample collection and questionnaire survey. Inductively coupled plasma mass spectrometry was employed to determine the levels of 10 elements (chromium, manganese, cobalt, nickel, copper, zinc, arsenic, molybdenum, cadmium and lead) in urine. The levels of each element in urine were divided into four groups ( Q1, Q2, Q3, and Q4 groups) based on quartiles. The associations between the levels of various elements in urine and the risk of arsenic poisoning were studied using binary logistic regression model and restricted cubic spline (RCS). Results:The age of the control group and the case group [ M ( Q1, Q3)] were 61 (53, 69) and 61 (56, 67) years old, respectively. There were 19 and 43 males, and 28 and 38 females, respectively. There was no statistically significant differences in age and and gender composition between the two groups ( Z = - 0.39, P = 0.700; χ 2 = 1.91, P = 0.167). The levels of urinary copper and cadmium of the case group were higher than those of the control group, and the differences were statistically significant ( Z = - 2.66, - 2.16, P < 0.05). The results of univariate logistic regression analysis showed that urinary copper was an influencing factor for arsenic poisoning ( P = 0.017). The results of multivariate logistic regression analysis revealed that after adjusting for covariates, urinary copper and arsenic were independent influencing factors of arsenic poisoning ( P < 0.05). Taking Q1 group as a reference, urinary copper in Q3 group [ OR (95% CI) = 8.23 (1.81, 37.39), P = 0.006] increased the risk of arsenic poisoning, while urinary arsenic in Q2, Q3, and Q4 groups [ OR (95% CI) = 0.24 (0.06, 0.92), 0.12 (0.03, 0.53), 0.15 (0.04, 0.63), P < 0.05] decreased the risk of arsenic poisoning. After adjusting for covariates, RCS did not show a dose-response relationship between urinary copper, urinary arsenic, and arsenic poisoning ( P > 0.05). Conclusion:Urinary arsenic and copper are associated with the risk of arsenic poisoning in the drinking water arsenic exposed areas of Inner Mongolia, copper exposure may contribute significantly to arsenic poisoning.
7.Treating Edema in Kidney Consumption Disorder Based on the Theory of"Blood Stasis Inducing Water"
Biying YANG ; Xiang LIU ; Ziwei DENG ; Wenxuan WEI ; Liang LIU ; Zeyun HE
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(9):1127-1133
Guided by Zhang Zhongjing's axiom that"blood stasis induces water",this study develops stage-specific treatment strategies for edema in Kidney Consumption Disorder by examining its four-stage pathogenic progression:Sluggish Flow → Stagnant Obstruction → Depressed Accumulation → Stasis Congelation.We propose an integrated approach that reinforces the root by warming the kidney and replenishing essence,while addressing the branch by activating blood circulation and promoting diuresis.Stage-specific interventions include:for the Sluggish Flow Phase,warming and tonifying kidney Yang combined with unblocking Yang to promote uri-nation;for the Stagnant Obstruction Phase,warming the kidney and replenishing essence supported by activating blood circulation and freeing the collateral channels;for the Depressed Accumulation Phase,quickening blood and resolving stasis,regulating Qi and trans-forming turbidity,along with warming the kidney and strengthening essence;and for the Stasis Congelation Phase,expelling stagnant accumulations while simultaneously regulating essence and blood.This framework advances novel pattern-determined strategies for Kid-ney Consumption edema management.
8.Clinical characteristics and drug resistance of Streptococcus anginosus group pulmonary abscess in patients
Xuan HOU ; Xiaoliang HE ; Yan JIANG ; Xueqing WU ; Wei ZHANG ; Hui WANG ; Junqi TAO ; Minghui DENG ; Mengrong ZHOU ; Yihai GU
Chinese Journal of Infection Control 2025;24(2):207-213
Objective To understand the clinical characteristics of patients with Streptococcus anginosus group(SAG)pulmonary abscess and resistance of SAG.Methods 67 patients with pulmonary abscess admitted to a hos-pital from January 2018 to May 2022 were retrospectively analyzed,clinical data of patients with SAG pulmonary abscess were analyzed,and the minimum inhibitory concentration of antimicrobial agents to 18 SAG strains was de-tected by microbroth dilution method,the carriage of resistance genes and virulence genes of SAG were detected by high-throughput sequencing technology.Results Among 67 patients with pulmonary abscess,SAG accounted for 29.9%(20/67),out of which 2 were excluded due to bacterial inactivation,and 18 patients were included for fur-ther studies.18 patients with SAG pulmonary abscess were all community acquired,with an average age of(60.9±9.1)years.There were 13(72.2%)male patients,most patients(94.4%)complicated chronic pulmonary disease,with cough(94.4%)and expectoration(88.9%)as the initial symptoms,some patients(44.4%)had chest pain,and more than half(61.1%)didn't have fever.The proportion of neutrophils,erythrocyte sedimentation rate,and C-reactive protein were mostly elevated,while procalcitonin was normal.The resistance rate of 18 SAG strains to erythromycin,clindamycin,and tetracycline was>65%,out of which 14 strains carried resistance gene ermB,13 strains carried resistance gene tetM,and 1 strain carried both resistance gene msrD and mefA.18 SAG strains were detected virulence gene psaA,out of which 3 strains were detected virulence gene nan A.Conclusion SAG is an im-portant pathogen that causes pulmonary abscess,and the patients'complications are mainly chronic pulmonary di-seases,with non-specific clinical manifestations;Most strains carry ermB and tetM genes,mediating resistance to macrolides,lincosamides,and tetracyclines.
9.Quantitative assessment of early lumbar disc degeneration in patients with low back pain by T1rho magnetic resonance imaging
Min HE ; Yali DENG ; Jiafei CHEN ; Tianyong HOU ; Wei CHEN ; Zhiwei ZHANG
Journal of Army Medical University 2025;47(20):2512-2521
Objective To quantitatively evaluate age-,sex-,and segment-related characteristics of lumbar disc degeneration(LDD)in patients with low back pain(LBP)using T1rho MRI,and assess its diagnostic value in early-stage disc degeneration.Methods A retrospective cross-sectional study was conducted on 89 LBP patients(balanced distribution across ages 20~29,30~39,40~49,50~59 years and genders)admitted in Department of Orthopedics of First Affiliated Hospital of Army Medical University from March 2024 to February 2025.All patients underwent lumbar MRI including T1rho sequences.Two senior radiologists performed blinded Pfirrmann grading on 445 intervertebral discs and measured T1rho values of the nucleus pulposus(NP).Kappa test was used to evaluate the inter-observer agreement of Pfirrmann grading,and Spearman correlation coefficient was employed to analyze the correlation between Pfirrmann grade and NP-T1rho value.Disc degeneration characteristics were compared across different ages,sexes,and spinal segments.After adjusting for body mass index(BMI)and gender,partial correlation analysis was used to assess the correlation between NP-T1rho value of each lumbar segment and age.Receiver operating characteristic(ROC)curve was plotted to analyze the diagnostic performance of T1rho quantification for early LDD in LBP patients.Results Good inter-observer agreement was observed in Pfirrmann grading across segments,with a Kappa coefficient of>0.70.The NP-T1rho values of all NP were in a strong negative correlation with Pfirrmann grades(r=-0.877,P<0.001).The NP-T1rho values were progressively decreased from Pfirrmann gradesⅠ to Ⅳ(P<0.001),with a steep decline between gradesⅡ and Ⅲ.The patients aged 20~29 and 30~39 years showed significantly higher NP-T1rho values in Pfirrmann grades Ⅰ and Ⅱ discs when compared with those aged 40~49 and 50~59 years(P<0.05).The males had significantly higher mean NP-T1rho values in grade I than the females(P=0.006).In the upper spinal segments(L1~L4),the males exhibited significantly higher mean NP-T1rho value than the females(P=0.025),and NP-T1rho value was decreased obviously with increase of age across all age groups(P<0.05).Except L5/S1 segments,NP-T1rho value and age in all spinal segments had significant negative correlations(r=-0.548~-0.349,P<0.001).The area under the curve(AUC)for distinguishing grade Ⅰ from Ⅱ discs was 0.824(95%CI:0.772~0.876),and for grades Ⅱ from Ⅲ was 0.978(95%CI:0.964~0.992).Conclusion T1rho MRI provides accurate quantitative assessment of early lumbar disc degeneration in LBP patients,with an NP-T1rho value of 79.87 ms serving as a discriminative threshold between grade Ⅱ and grade Ⅲ.
10.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.

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