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.Penile metastatic extramedullary plasmacytoma:a case report and literature review
Zhihao WANG ; Yuping ZHAO ; Wanhe WU ; Haidi LYU ; Baihong GUO
Journal of Modern Urology 2026;31(3):295-297
Objective To investigate the clinicopathological characteristics, diagnostic key points, and treatment strategies of penile metastatic extramedullary plasmacytoma(EMP). Case Report A 47-year-old male patient presented with a painless indurated nodule on the dorsal side of the penis and had a previous history of plasmacytoma in the nasal cavity and tibia. He subsequently underwent complete excision of the penile lesion. Postoperative histopathological examination confirmed the diagnosis of anaplastic plasmacytoma. Immunohistochemical analysis showed positive staining of CD138, CD38, MUM1, and CD79a, with Ki-67(+60%). Light chain restriction was also identified. No local recurrence or distant metastasis was observed during the 5-month follow-up. Conclusion Metastatic EMP of the penis is an extremely rare condition, and the diagnosis relies on pathological examinations combined with immunohistochemical analysis. Surgical resection can be an effective treatment modality for localized lesions;however, long-term follow-up is essential to monitor disease progression.
3.Advances in extracellular vesicles for the diagnosis and treatment of corneal and ocular surface diseases
Zhihao ZHANG ; Jiahao WANG ; Qihang DIAO ; Jingjing ZHAO ; Mengjun FU
International Eye Science 2026;26(8):1365-1370
Extracellular vesicles(EVs)are nanoscale membrane vesicles released by cells that carry bioactive molecules such as proteins and nucleic acids. They play a key role in intercellular communication. In recent years, they have shown significant potential in the diagnosis and treatment of corneal and ocular surface diseases. As diagnostic biomarkers, EVs derived from tears or other sources can reflect disease-specific characteristics, providing a basis for the early disease detection. In terms of therapy, mesenchymal stem cells(MSCs)-derived EVs deliver miRNAs to modulate inflammatory pathways, promote corneal epithelial repair, and inhibit fibrosis. Furthermore, as natural drug vehicles, EVs enable precise delivery of therapeutic agents and promote corneal wound healing. This review systematically summarizes the recent research advances in the application of EVs in the field.
4.Objective Indicators and Evaluation System for Excellent Shape and High Quality of Gardeniae Fructus
Xiulin YUAN ; Shiwen KANG ; Zhihao LIU ; Ding HUANG ; Sen YE ; Fan LI ; Bocheng WANG ; Yan JIN ; Yuan YUAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(18):27-35
ObjectiveTo establish an objective evaluation system based on the quality characteristics of Gardeniae Fructus without relying on the origin label according to the theory of excellent shape, high quality, and superior effect of authentic medicinal materials, thus providing a scientific basis for the standardization of Gardeniae Fructus. MethodsDifferent batches of Gardeniae Fructus samples were collected from different producing areas. Through herbal textual research and a review of modern literature, fruit length, maximum fruit diameter, and chroma were selected as quantitative indicators to characterize the traditional appearance traits of Gardeniae Fructus. The above indicators were measured by a vernier caliper and a spectrophotometer. Through classical famous prescription data and literature analysis, total iridoid glycosides, total crocus glycosides, and total flavonoids were selected as the core component indicators related to efficacy, and their content was determined. Finally, through cluster analysis, the threshold ranges of the quantitative indicators of excellent shape and high quality were determined, and the applicability of the established evaluation system was verified by the determination of the indicators for each batch of medicinal materials. ResultsThe excellent shape indicators of Gardeniae Fructus were the fruit length-to-maximum fruit diameter ratio ≤1.86, 0°≤h≤45°, and L*≥ 37.32. The content of total iridoid glycosides, total crocus glycosides, and total flavonoids should be no less than 2.2%, 0.44%, and 0.028%, respectively. The measurement results of different batches of Gardeniae Fructus showed that the evaluation system could effectively distinguish the Gardeniae Fructus samples in line with the traditional cognition of excellent shape and high quality. ConclusionThis study preliminarily constructs an excellent shape and high quality-based quality evaluation system for Gardeniae Fructus, which links appearance traits with chemical indicators and provides a methodological basis for the quality control and scientific grading of this herbal medicine.
5.Quantification of Excellent Shape and High Quality Indicators of Sarcandrae Herba and Development of Evaluation System
Yini WU ; Zhihao LIU ; Fan LI ; Bocheng WANG ; Qiuling WANG ; Yan JIN ; Yuan YUAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(18):36-43
ObjectiveTo identify and quantify the excellent shape and high quality indicators of Sarcandrae Herba and establish an evaluation method for Sarcandrae Herba based on appearance traits and active components according to the theory of excellent shape, high quality, and superior effect of authentic medicinal materials. MethodsSarcandrae Herba samples from various producing areas were systematically collected. Through classical herbal textual research and modern literature analysis, colorimetric values of leaves and stems were selected as shape indicators. According to compound preparation data and literature reports, total flavonoids, total phenolic acids, and coumarins were selected as component indicators. Cluster analysis and correlation analysis were performed to identify core objective indicators and their threshold ranges for the excellent shape and high quality of Sarcandrae Herba. ResultsGreener Sarcandrae Herba exhibited higher levels of phenolic acids, total flavonoids, and coumarins. Core quantitative indicators characterizing the excellent shape and high quality of Sarcandrae Herba were Leaf a* value<0.99, stem a* value<4, phenolic acid content≥2.49%, total flavonoid content≥5.32%, and coumarin content≥1.98%. By calculating the compliance rate of each batch against this indicator system, the quality stability of different batches can be quantitatively evaluated. ConclusionThis study validates the traditional empirical principle that greener stems and leaves indicate high quality. It establishes a quality evaluation method for Sarcandrae Herba based on the correlation between color and bioactive components, providing a scientific basis for the quality control and grading of this herbal medicine.
6.Optimization Strategy and Practice of Traditional Chinese Medicine Compound and Its Component Compatibility
Zhihao WANG ; Wenjing ZHOU ; Chenghao FEI ; Yunlu LIU ; Yijing ZHANG ; Yue ZHAO ; Lan WANG ; Liang FENG ; Zhiyong LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):299-310
Prescription optimization is a crucial aspect in the study of traditional Chinese medicine (TCM) compounds. In recent years, the introduction of mathematical methods, data mining techniques, and artificial neural networks has provided new tools for elucidating the compatibility rules of TCM compounds. The study of TCM compounds involves numerous variables, including the proportions of different herbs, the specific extraction parts of each ingredient, and the interactions among multiple components. These factors together create a complex nonlinear dose-effect relationship. In this context, it is essential to identify methods that suit the characteristics of TCM compounds and can leverage their advantages for effective application in new drug development. This paper provided a comprehensive review of the cutting-edge optimization experimental design methods applied in recent studies of TCM compound compatibilities. The key technical issues, such as the optimization of source material selection, dosage optimization of compatible herbs, and multi-objective optimization indicators, were discussed. Furthermore, the evaluation methods for component effects were summarized during the optimization process, so as to provide scientific and practical foundations for innovative research in TCM and the development of new drugs based on TCM compounds.
7.Factors influencing mental health of medical students based on an ecological systems theory perspective
XU Chenchen, WU Ruoxiu, WANG Lizhu, LI Moxuan, ZHANG Zhihao
Chinese Journal of School Health 2025;46(3):402-405
Objective:
To analyze factors impacting mental health status of medical students based on ecological systems theory, so as to provide reference for the mental health promotion system for medical students.
Methods:
In June 2024, 1 760 medical school students randomly selected from 19 different kinds of medical colleges in eastern China by stratified cluster were surveyed using questionnaires and expert interviews. Descriptive statistics, cross analysis, hierarchical linear regression analysis, structural equation models were used for data analysis.
Results:
Medical school students had higher satisfaction with the school (65.85%) and a great sense of perceived social support (57.16%). Furthermore, 91.14% of the students had normal interpersonal relationships. However, 44.89% reported that their mental health was impacted by high level of depression. The hierarchical linear regression analysis showed that the mental health outcomes of the medical students were positively predicted by higher perceived social support scores ( β =-11.40), institutional satisfaction ( β =-4.85 ), and lower help seeking stigma scores ( β =9.31) ( P <0.05). The structural equation modeling showed that the status of both perceived social support and self help seeking stigma had significant impacts on depression severity ( β =-0.32, -0.53) and interpersonal relationship sensitivity ( β =-0.31, 0.58) among medical students ( P <0.01).Through expert interviews, collaborations between the school and the tripartite organization (families, universities and society) was of growing importance.
Conclusions
Perceived social support and self stigma have a significant impact on the mental health status of medical students. The problem of self stigma of medical students should be paid attention to. Therefore, families, universities and society should work together to improve the mental health of medical students.
8.Impact of initial screening strategies on compliance with colonoscopy for colorectal carcinoma in residents aged 50 years and above
Fang XIANG ; Zhihao HU ; Yawei WANG ; Yiying ZHANG ; Fang HUANG ; Qian PENG ; Hongjie YU ; Chaowei FU
Shanghai Journal of Preventive Medicine 2025;37(2):140-144
ObjectiveTo compare colonoscopy compliance rates under different screening strategies, to explore ways to enhance colonoscopy compliance among residents with colorectal carcinoma. MethodsResidents aged between 50‒80 years were recruited through extensive community outreach and voluntary participation. A total of 210 630 residents who participated in the colorectal carcinoma screening program in Jiading District, Shanghai, between 2013 and 2019 were selected as the research subjects. All subjects underwent a colorectal carcinoma risk assessment questionnaire survey and two fecal occult blood tests (FOBT). Positive results in the initial screening were defined as a positive questionnaire survey or a positive result in at least one FOBT. Participants with positive initial screening results were advised to undergo colonoscopy screening in a hospital. Colonoscopy results were collected from hospital reports and physician follow-ups. Compliance with colonoscopy was analyzed under different screening strategies to identify possible factors influencing residents’ willingness to undergo the procedure. ResultsA total of 21 403 individuals (10.16%) were identified as positive with the questionnaire survey, 31 595 individuals (15.00%) tested positive with at least one FOBT. Combined questionnaire and FOBT positivity was observed in 3 501 individuals (1.66%). Among the 48 453 individuals with positive initial screening results, 17 230 (35.56%) underwent colonoscopy, and a total of 315 cases of colorectal cancer were detected. The sensitivity, specificity value of FOBT initial screening were 83.81% and 84.66%, respectively. According to the combined risk assessment and FOBT initial screening preliminary screening, the lowest colonoscopy compliance rate (25.63%) was observed among individuals with only a positive questionnaire, and the highest compliance rate (52.55%) was among those with both positive questionnaire survey and two positive FOBT results. Multivariate analysis revealed that FOBT positivity had the greatest impact on colonoscopy compliance. Those with one positive FOBT test result were 2.64 times more likely to undergo colonoscopy screening than those with negative FOBT results, while individuals with two positive FOBT results were 3.18 times more likely to do so. After adjusting for FOBT results, individuals with positive questionnaire survey results were 1.43 times more likely to undergo colonoscopy screening than those with negative results (95%CI: 1.34‒1.52). Compared to questionnaire-based risk assessment, FOBT results were more influential in determining compliance with colonoscopy. ConclusionThe choice of initial screening method significantly impacts residents’ compliance with colonoscopy. While implementing colorectal carcinoma screening programs, it is necessary to strictly adhere to screening protocols, including risk assessment and FOBT. Additionally, efforts should be made to raise public awareness, encouraging residents to actively participate in risk assessments and FOBT, thereby improving their compliance with colonoscopy.
9.Psychological experiences of young end stage renal disease patients awaiting kidney transplantation: A qualitative study.
Dian LIU ; Huilan XU ; Zhihao ZHANG ; Liang WANG ; Jia LIU ; Xiao ZHU
Journal of Central South University(Medical Sciences) 2025;50(5):888-896
OBJECTIVES:
End stage renal disease (ESRD) is a major disease that seriously threatens the health of young people, and kidney transplantation is an effective treatment method to improve its prognosis.Young ESRD patients at a critical stage of life development often face significant physical and psychological challenges while waiting for kidney transplantation. Their psychological state directly affects treatment compliance and transplantation outcomes.This study aims to explore the psychological experiences of young patients with end stage renal disease during the waiting period for kidney transplantation, and provide a reference for formulating relevant psychological intervention measures.
METHODS:
A descriptive qualitative research design was adopted. Using purposive sampling, 20 young ESRD patients awaiting for kidney transplantation at the Transplantation Center of Xiangya Third Hospital, Central South University, from June to August 2024, were recruited. Based on the socio-ecological systems theory, a semi-structured interview outline was developed, and directed content analysis was applied to analyze the interview data.
RESULTS:
According to the results of qualitative interviews, 3 themes and 9 sub-themes were summarized as follows: Microsystem (disease pain experience, anxiety during transplantation waiting period, cognitive differentiation and coping differences), mesosystem (imbalance of family roles and dependent guilt, physician-patient trust dynamics, ambivalence toward peer support), and macrosystem (decision-making powerlessness caused by information asymmetry, sociocultural stigma and public bias, institutional dependence and passive behavior).
CONCLUSIONS
Young ESRD patients experience complex psychological experiences during the waiting period for kidney transplantation. Healthcare providers should explore corresponding intervention measures based on patients' psychological status to improve their waiting period experience and promote both physical and mental health.
Humans
;
Kidney Transplantation/psychology*
;
Kidney Failure, Chronic/surgery*
;
Qualitative Research
;
Female
;
Male
;
Adult
;
Adaptation, Psychological
;
Waiting Lists
;
Young Adult
;
Adolescent
;
Anxiety/psychology*
10.Study on normal reference values for dynamic balance parameters in healthy adults aged 20-69 years.
Zhiqiang QI ; Taisheng CHEN ; Wei WANG ; Peng LIN ; Xiang MAO ; Zhihao CHEN ; Ying LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(10):935-940
Objective:To establish normal reference value ranges for dynamic balance function parameters in healthy Chinese adults aged 20-69 years. Methods:A total of 100 healthy subjects were selected and evenly divided into five age groups: 20-29, 30-39, 40-49, 50-59, and 60-69 years, with equal gender distribution in each group. Balance function was assessed using the EquiTest system (NeuroCom), with following tests performed Sensory Organization Test (SOT), Motor Control Test (MCT), Adaptation Test (ADT), and Limits of Stability (LOS) test. All parameters were statistically analyzed and expressed as ±S. Results:The normal reference ranges for SOT, MCT, ADT, and LOS parameters were established for each age group. Multiple balance function parameters demonstrated a gradual decline with advancing age, with more pronounced deterioration observed after the age of 60. Specific findings included decreased vestibular ratio and reduced visual preference in SOT, as well as prolonged reaction time, impaired directional control, and reduced maximum excursion in the backward direction during LOS testing. Conclusion:This study is the first to establish age-specific reference ranges for dynamic balance function parameters in a healthy Chinese population aged 20-69 years, providing localized and objective criteria for the assessment of balance function and supporting clinical diagnosis of balance-related disorders in China.
Humans
;
Middle Aged
;
Adult
;
Postural Balance/physiology*
;
Reference Values
;
Aged
;
Male
;
Female
;
Young Adult
;
Healthy Volunteers


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