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.Effect of Pibai Yucuo Formula (枇柏愈痤方) on Inflammatory Response in Lesional Tissue and Skin Barrier Damage in Acne Model Mice
Yunni LIU-TANG ; Yutong DENG ; Gaiying HE ; Huishang FENG ; Xuewen REN ; Yimei FANG ; Xuewan WANG ; Yatong LI ; Lingling CAI ; Yuanwen LI
Journal of Traditional Chinese Medicine 2026;67(11):1211-1219
ObjectiveTo investigate the possible mechanism of Pibai Yucuo Formula (枇柏愈痤方, PYF) in treating acne from the perspective of skin barrier damage. MethodsThirty-two mice were randomly divided into blank group, model group, minocycline group, and PYF group, with 8 mice in each group. Except for the blank group, mice were induced by intradermal injection of Cutibacterium acnes (C.acnes) combined with topical application of artificial sebum to establish acne model. The blank group and model group received intragastric administration of 0.2 ml of distilled water, while the PYF group received intragastric administration of 22.75 g/(kg·d)of PYF, and the minocycline group received 0.013 g/(kg·d)of minocycline suspension, all once daily for 5 consecutive days. On day 0 and day 6 of the experiment, the body weight of mice in each group was recorded, and the absolute value of the body weight difference during the experiment was calculated. Skin conditions were assessed with multifunctional skin imaging system on the 2nd, 4th and 6th day of the experiment. Skin barrier function indicators including transepidermal water loss (TEWL), and the water content of the stratum corneum and epidermis on day 0, 2, 4 and 6 of the experiment. Optical coherence tomography (OCT) was used to observe stratum corneum and skin thickness on the 1st, 3rd and 5th day of the experiment. Hematoxylin-eosin (HE) staining was performed to observe histopathological changes, while ELISA was used to detect interleukin-17A (IL-17A) levels, and immunofluorescence staining was used to assess skin barrier-related proteins filaggrin (FLG) and loricrin (LOR) levels of skin lesions on day 6 of the experiment. ResultsCompared to the blank group, the model group showed a decrease in body weight on day 6, and an increase in the absolute value of the difference in body weight before and after the experiment (P<0.05). On day 4 and 6, TEWL values increased, while water content in the skin stratum corneum and epidermis decreased (P<0.05), accompanied by elevated IL-17A level and reduced immunofluorescence intensity of FLG and LOR proteins (P<0.05). The model group mice showed papules or pustules at the skin modeling site with progressively worsening desquamation under multifunctional skin imaging system. OCT revealed focal epidermal protrusions, blurred epidermal-dermal boundaries, and disorganized structural layers. HE staining showed significant epidermal hyperkeratosis and incomplete keratinization in the skin, with keratin plug formation in hair follicles and glandular lumens, thickened stratum corneum, hyperplasia of the stratum spinosum, as well as dense dermal inflammatory cell infiltration, and capillary dilation. Compared to the model group, both the minocycline group and the PYF group showed a reduced difference in body weight before and after experiment (P<0.05). On day 4 and 6, the TEWL value decreased, and water content of the skin stratum corneum increased (P<0.05); on day 6, the IL-17A level in the skin lesions decreased and immunofluorescence intensity of FLG and LOR proteins increased (P<0.05). On day 4 and 6, the severity of the skin lesions and range of redness and swelling were lighter than those in the model group, with reverted epidermal thickness, smoother surface and clearer epidermis-dermis boundary. HE staining showed that the degree of skin keratinization was reduced, and the inflammatory infiltration and vascular dilation in the dermis were improved compared to the model group. The PYF group showed better results than the minocycline group in reducing TEWL value on day 4 (P<0.05). ConclusionPYF may improve inflammation and skin barrier damage by downregulating IL-17A levels in lesion tissue and increasing skin barrier-related proteins, which could be one of the potential mechanism of action on acne.
3.Therapeutic efficacy of ruxolitinib combined with low-dose hormone in aGVHD after allogeneic hematopoietic stem cell transplantation
Yue HU ; Xupai ZHANG ; Sihan LAI ; Shan ZHANG ; Lei MA ; Xiao WANG ; Yan DENG ; Ying HAN ; Ying HE ; Guangcui HE ; Hai YI
Chinese Journal of Blood Transfusion 2026;39(4):506-512
Objective: To evaluate the efficacy and safety of ruxolitinib combined with low-dose hormone for patients with acute graft-versus-host disease (aGVHD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Methods: Thirty patients with aGVHD after allo-HSCT admitted to the Department of Hematology of the General Hospital of Western Theater Command from November 2021 to November 2024 were retrospectively analyzed. All patients were treated with low-dose hormone (methylprednisolone 0.3-1 mg kg
-d
) combined with ruxolitinib 5-10 mg d
. The efficacy and adverse reactions were observed during the follow-up period to analyze the survival outcomes of the patients. Results: A total of 30 patients with aGVHD after allo-HSCT were included in this study, consisting of 15 (50%) males and 15 (50%) females with a median age of 34 year-old (ranging from 14 to 62). Classification by disease type: there were 18 cases of acute myeloid leukemia, 4 cases of acute lymphoblastic leukemia, 4 cases of aplastic anemia, and 4 cases of myelodysplastic syndrome. Classification by aGVHD severity: there were 27 cases (90%) of Ⅱ-Ⅳ degree aGVHD and 11 cases (36.7%) of Ⅲ-Ⅳ degree aGVHD. Ruxolitinib in combination with low-dose glucocorticoid treatment yield responses in 28 (93.3%) patients, of which 27 (90%) achieved complete remission (CR), while 1 (3.3%) showed partial remission (PR). One patient (3.3%) had no response (NR), and 1 patient (3.3%) exhibited progressed disease (PD). Overall survival (OS) at 1 year of transplantation was 73.9% (95%CI 49.5% to 87.7%), progression-free survival (PFS) was 93.3% (95%CI 75.9% to 98.3%), non-relapse mortality (NRM) was 20.6% (95%CI 7.9% to 47.4%), and median survival time was 27.6 months. Conclusion: Ruxolitinib combined with low-dose hormones is safe and effective in the treatment of aGVHD after allo-HSCT.
4.Proteome-wide Mendelian randomization analysis of plasma proteins identifies biomarkers for anxiety disorders
Xuelian LI ; Min DENG ; Rongting RAN ; Yuqian HE ; Geman WANG ; Yujie LI ; Zhili ZOU
Sichuan Mental Health 2026;39(1):63-69
BackgroundAnxiety disorder is a common mental disorder, with its prevalence showing a continuous upward trend, significantly affecting the quality of life and social function of patients. Due to the lack of objective and reliable biomarkers in clinical practice, the early identification and treatment of anxiety disorder have been somewhat limited. Plasma proteins have the potential to serve as biomarkers for mental diseases, however, the causal relationship between them and anxiety disorder remains unclear. ObjectiveTo identify the plasma proteins that have a causal relationship with anxiety disorders, and to elucidate the associated biological pathways, in order to provide references for the search for biomarkers of anxiety disorders and the exploration of potential therapeutic targets. MethodsBased on the protein quantitative trait locus (pQTL) data of 4 907 plasma proteins covering 35 559 Icelandic individuals from the deCODE database, and the genome-wide association studies (GWAS) data of 50 486 patients with anxiety disorders and 330 460 healthy controls, the inverse-variance weighted (IVW) method was used as the main analysis method, supplemented by MR-Egger method, weighted median method, simple model method, and weighted model method for bidirectional Mendelian randomization analysis. Enrichment analysis of gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways was conducted for the related proteins. Sensitivity analysis was performed using Cochran's Q test, MR-Egger intercept test, MR-PRESSO test, and leave-one-out analysis to evaluate the robustness of the results. ResultsA total of 10 plasma proteins were identified as significantly associated with anxiety disorders. Among these, SPATA9 (OR=0.856, 95% CI: 0.784–0.934, P<0.01) and PDE5A (OR=0.911, 95% CI: 0.864–0.961, P<0.01) were identified as protective factors, while CRYGD (OR=1.209, 95% CI: 1.095–1.334, P<0.01), BTN3A3 (OR=1.045, 95% CI: 1.018–1.073, P<0.01), SERPINB13 (OR=1.102, 95% CI: 1.040–1.168, P<0.01), ERBB4 (OR=1.283, 95% CI: 1.109–1.484, P<0.01), LSAMP (OR=1.096, 95% CI: 1.037–1.158, P<0.01), ICOSLG (OR=1.283, 95% CI: 1.104–1.490, P<0.01), DNAJB11 (OR=1.172, 95% CI: 1.076–1.277, P<0.01), and TREML1 (OR=1.115, 95% CI: 1.054–1.179, P<0.01) were identified as risk factors. The sensitivity analysis showed that the results were robust, with no heterogeneity (Cochran's Q test P>0.05) or pleiotropy (MR-Egger intercept test P>0.05). Enrichment analysis indicated that these plasma proteins were enriched in biological processes such as T-cell signal transduction, lymphocyte proliferation, cell membrane structure and synaptic function, as well as the intestinal immune network that produces IgA and the ErbB signaling pathway. ConclusionThis study identified 10 plasma proteins associated with anxiety disorders. The functions of these plasma proteins involve multiple biological processes such as neural development and immune regulation.
5.Progress on the hazards and control of ship-borne vector organisms
Yun-chuan HE ; Hui-ling HAO ; Bin SUN ; Hong-yan LYU ; Deng-yong HOU ; Xiao-meng REN
Acta Parasitologica et Medica Entomologica Sinica 2026;33(2):144-151
In the context of burgeoning economic trade, there has been a remarkable increase in the number of ships travelling between domestic and international ports. Inbound and outbound cargo ships, cruise liners, ferries, and other types of vessels have emerged as critical vehicles for the dispersal of vector organisms and the spread of infectious disease agents. Public health concerns associated with these vessels represent a significant threat to human welfare. In this paper, we comprehensively review the hazards posed by vector organisms on ships, the latest advances in prevention and control strategies, and proposes appropriate countermeasures. The aim is to provide effective guidance for the prevention and control of public health security issues caused by ship-borne vector organisms.
6.The dual roles of NCompass nitinol stone retrieval basket in ureteroscopic holmium laser lithotripsy for upper ureteral stones larger than 1 cm
Xing CHEN ; Yangtian JIAO ; Yuhui HE ; Yisen DENG ; Mingxiao ZHANG ; Yiwei TAN ; Jianfeng WANG
Journal of Modern Urology 2026;31(1):17-20
Objective To analyze the application of NCompass nitinol stone retrieval basket in ureteroscopic holmium laser lithotripsy, and to evaluate its roles in reducing stone retropulsion and improving stone-free rate(SFR)and stone acquisition rate.Methods A retrospective analysis was conducted on the data of patients with upper ureteral stones>1 cm who underwent ureteroscopic holmium laser lithotripsy at China-Japan Friendship Hospital during Jan.2018 and Dec.2023, including 96 cases were in the NCompass group, and 68 cases in the non-basket group.The operation time, stone retropulsion rate, usage rate of flexible ureteroscopy, SFR and stone acquisition rate were compared between the two groups.Results There were no significant differences in the operation time [(29.2±8.4)min vs.(30.9±7.2)min, P=0.170] and stone retropulsion rate(15.6% vs. 27.9%, P=0.055)between the NCompass group and non-basket group.The NCompass group had significantly lower usage rate of flexible ureteroscopy than the non-basket group(24.0% vs. 47.1%, P=0.002), higher SFR 2 days(80.2% vs. 45.6%, P<0.001)and 1 month(93.8% vs. 83.8%, P=0.040)after operation, as well as the stone acquisition rates 2 days(100% vs. 44.1%, P<0.001)and 1 month(100% vs. 58.8%, P<0.001)after operation. Conclusion The NCompass nitinol stone retrieval basket plays dual roles in ureteroscopic holmium laser lithotripsy, which can effectively intercept stones and extract stone fragments, thus significantly improving the SFR and stone acquisition rate, and reducing stone retropulsion and the use of flexible ureteroscopy.
7.Effect of Processed Polygonatum cyrtonema in Preventing Depression Induced by Chronic Unpredictable Mild Stress in Female Rats
Xinyu DENG ; Chunhua MA ; Zimeng WANG ; Man TANG ; Xinran LI ; Lurong YU ; Xianyuan HE
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):117-124
ObjectiveTo observe the prevention and control effect of processed Polygonatum cyrtonema on depression induced by chronic unpredictable mild stress (CUMS) in female rats. MethodsForty rats were assigned into control, model, and low-, medium-, and high-dose processed P. cyrtonema groups according to the random number table method, with 8 rats in each group. The rat model of depression was established with the CUMS method. The body mass, open field test, forced swimming test, Morris water maze test, levels of neurotransmitters [dopamine (DA), 5-hydroxytryptamine (5-TH), and acetylcholine (ACh)], serum levels of sex hormones [gonadotropin-releasing hormone(GnRH), testosterone (T), and estradiol (E2)] and inflammatory factors [tumor necrosis factor-α (TNF-α), interleukin (IL)-6, and IL-10], and mRNA and protein levels of factors in the brain-derived neurotrophic factor (BDNF)/tyrosine kinase receptor B (TRKB)/cAMP-response element binding protein (CREB) pathway were employed to evaluate the effect of processed P. cyrtonema on the CUMS-induced depression in female rats. ResultsThe body mass, open field test results, and forced swimming test results showed that the rat model of depression was successfully established. The comparison of behaviors, neurotransmitters, sex hormones, inflammatory factors, and neural pathways among groups showed that processed P. cyrtonema had different effects of preventing the development of depression in female rats. SPSS 25 was used for statistical analysis of error and significance. T test was conducted between groups. Each treatment group showed significant therapeutic effect compared with the model group (P<0.05). Processed P. cyrtonema elevated the level of 5-TH (P<0.01) and lowered the levels of DA and ACh (P<0.01) in the brain tissue of female rats. In addition, it reduced the serum levels of GnRH, T, E2, TNF-α, and IL-6 (P<0.05) and up-regulated the mRNA levels of BDNF and TRKB in the rat brain. ConclusionProcessed P. cyrtonema has a non-hyperactive preventive effect on CUMS-induced depression in rats, which provides a theoretical basis for the development of processed P. cyrtonema as a functional food product.
8.Effect of Processed Polygonatum cyrtonema in Preventing Depression Induced by Chronic Unpredictable Mild Stress in Female Rats
Xinyu DENG ; Chunhua MA ; Zimeng WANG ; Man TANG ; Xinran LI ; Lurong YU ; Xianyuan HE
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):117-124
ObjectiveTo observe the prevention and control effect of processed Polygonatum cyrtonema on depression induced by chronic unpredictable mild stress (CUMS) in female rats. MethodsForty rats were assigned into control, model, and low-, medium-, and high-dose processed P. cyrtonema groups according to the random number table method, with 8 rats in each group. The rat model of depression was established with the CUMS method. The body mass, open field test, forced swimming test, Morris water maze test, levels of neurotransmitters [dopamine (DA), 5-hydroxytryptamine (5-TH), and acetylcholine (ACh)], serum levels of sex hormones [gonadotropin-releasing hormone(GnRH), testosterone (T), and estradiol (E2)] and inflammatory factors [tumor necrosis factor-α (TNF-α), interleukin (IL)-6, and IL-10], and mRNA and protein levels of factors in the brain-derived neurotrophic factor (BDNF)/tyrosine kinase receptor B (TRKB)/cAMP-response element binding protein (CREB) pathway were employed to evaluate the effect of processed P. cyrtonema on the CUMS-induced depression in female rats. ResultsThe body mass, open field test results, and forced swimming test results showed that the rat model of depression was successfully established. The comparison of behaviors, neurotransmitters, sex hormones, inflammatory factors, and neural pathways among groups showed that processed P. cyrtonema had different effects of preventing the development of depression in female rats. SPSS 25 was used for statistical analysis of error and significance. T test was conducted between groups. Each treatment group showed significant therapeutic effect compared with the model group (P<0.05). Processed P. cyrtonema elevated the level of 5-TH (P<0.01) and lowered the levels of DA and ACh (P<0.01) in the brain tissue of female rats. In addition, it reduced the serum levels of GnRH, T, E2, TNF-α, and IL-6 (P<0.05) and up-regulated the mRNA levels of BDNF and TRKB in the rat brain. ConclusionProcessed P. cyrtonema has a non-hyperactive preventive effect on CUMS-induced depression in rats, which provides a theoretical basis for the development of processed P. cyrtonema as a functional food product.
9.Forty years of prenatal ultrasound in China:Technological evolution,clinical breakthroughs and future directions
Hong LUO ; Shengli LI ; Xuedong DENG ; Yihua HE ; Qingqing WU
Chinese Journal of Medical Imaging Technology 2025;41(8):1333-1339
Over the past 40 years,prenatal ultrasound in China has undergone a transformative evolution,from basic grayscale imaging to the integration of artificial intelligence(AI).Initial efforts focused on identifying major fetal anomalies and establishing standardized screening systems.In subsequent decades,advances such as 3D/4D imaging,quantitative diagnostic models and multimodal approaches enhanced the accuracy and scope of assessments.Recently,the emergence of AI-driven diagnostics,early trimester screening and multi-omics integration have ushered Chinese prenatal ultrasound into an era of precision and intelligence.Chinese scholars have not only adopted global innovations,but also contributed original,locally adapted solutions and multidisciplinary frameworks.Looking ahead,future development will emphasize intelligent assistance,equitable access,evidence-based systems,and cross-disciplinary integration-driving continued improvement in birth defect prevention and maternal-fetal health.
10.Analysis on clinical value of sticky bone in bone defect repair after jaw cyst surgery
Zuwu HE ; Minghui DENG ; Linqi LI
Chongqing Medicine 2025;54(9):2151-2157
Objective To investigate the clinical effects and characteristics of sticky bone in the repair of bone defects of jaw cysts.Methods Forty-two inpatients with jaw cysts undergoing surgical treatment at the stomatology department of the Affiliated Changsha Central Hospital of University of South China from June 2021 to June 2023 were enrolled as the study subjects and randomized into the experimental group and control group,21 cases in each group.One patient in the control group was excluded due to postoperative in-fection and osteogenesis failure,and 21 patients were finally included in the experimental group and 20 patients in the control group.The residual bone cavity after mandibular cyst scraping surgery in the experimental group was filled the with sticky bone made of autologous fibrin glue and Bio-oss bone powder,while in the bone cavity of the control group was only filled with Bio oss bone powder.The facial swelling rate and pain of study subjects after surgery in the two groups were evaluated,and oral and maxillofacial cone beam CT scans were taken within 48 h,3,6 months after surgery.The changes in CT values inside the bone cavity were meas-ured and compared.Results The facial swelling rate after operation in the experimental group was significant-ly lower than that in the control group,and the difference was statistically significant(P<0.05).The visual analogue scale(VAS)scores of pain on postoperative 1,3 d in the experimental group were significantly lower than those in the control group,and the difference was statistically significant(P<0.05);the difference value of intra-cavity CT value in postoperative 3 months and 48 h in the experimental group was significantly higher than that in the control group,and the difference was statistically significant(P<0.05).The intra-cavity CT value at postoperative 48 h in the experimental group was lower than that in the control group,and the differ-ence was statistically significant(P<0.05).The intra-cavity CT values in postoperative 3 and 6 months in the experimental group were slightly higher than those in the control group,but the differences were not statisti-cally significant(P>0.05).Conclusion Sticky bone has good biological and physical properties,which could promote the bone tissue regeneration,early restore the patient function and aesthetics,and alleviate the ad-verse reactions such as postoperative pain and swelling.It is an ideal bone graft.


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