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.Evaluation of the Efficacy of an Eye-Protective Compound Formula on the Retina in a Mouse Model of Blue Light-Induced Damage
Haochen XU ; Qingqing LE ; Xiwen HE ; Bing CAI ; Longhe YANG
Laboratory Animal and Comparative Medicine 2026;46(5):650-659
ObjectiveTo investigate the time-dependent pattern of blue light-induced retinal damage in mice, establish a suitable animal model, and evaluate the protective effects of a compound formula containing lutein esters, DHA algal oil, Lycium ruthenicum, and other ingredients used as both food and medicine. MethodsThirty-two of the 56 SPF-grade male C57BL/6J mice were randomly divided into a control group and model groups (1 h, 3 h, and 6 h irradiation) (n=8 per group) to determine the optimal blue light irradiation time. First, mice were exposed to blue light from a 467 nm light-emitting diode at (5 000±200) lx for 1 h, 3 h, and 6 h, respectively. Retinal histopathology and thickness were examined using hematoxylin‑eosin (HE) staining. Serum malondialdehyde (MDA) and glutathione (GSH) levels were measured using assay kits. Retinal inflammatory cytokine mRNA expression was assessed by real-time fluorescent quantitative reverse transcription PCR. After 3 h of blue light exposure was confirmed as the appropriate modeling condition, the remaining 24 mice were used in an intervention experiment to evaluate the protective effect of the eye-protective compound formula on blue light-induced retinal damage. The mice were administered the compound formula (1 000 mg·kg-1·d-1) by gavage for 14 days, followed by 3 h of blue light irradiation, and the same indicators were evaluated as described above. ResultsWith prolonged irradiation time, the thickness of each retinal layer gradually decreased (P<0.05 to P<0.01) and cell arrangement became disordered. Serum MDA levels progressively increased (P<0.01), while GSH levels gradually decreased (P<0.01). The mRNA expression of interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) in retinal tissue was significantly upregulated with increasing irradiation time. The 1 h irradiation group showed only minor changes (P>0.05), whereas the 6 h irradiation group exhibited the most pronounced changes (P<0.000 1). Therefore, 3 h of blue light irradiation (P<0.001), which showed significant yet moderate differences in all indicators, was selected as the subsequent modeling condition. After intervention with the eye-protective compound formula, compared with the model group, serum MDA level was significantly reduced (P<0.01), and serum GSH level was significantly increased (P<0.05). The expression levels of retinal inflammatory cytokines IL-1β (P<0.000 1), IL-6 (P<0.001), and TNF-α (P<0.01) were significantly downregulated. Total retinal thickness (P<0.01), as well as the thicknesses of the inner plexiform layer (P<0.05), inner nuclear layer (P<0.05), outer plexiform layer (P<0.05), and outer nuclear layer (P<0.01), were significantly increased compared with the model group. Histopathological examination also showed that the regularity and density of retinal cell arrangement were markedly better than those in the model group. ConclusionBlue light irradiation at a specific illuminance for 3 h can establish a stable mouse model of retinal damage. The compound formula alleviates retinal damage through antioxidant and anti-inflammatory pathways, providing an experimental basis for the development of related functional foods.
3.Influencing factors for sarcopenia in elderly hospitalized patients and construction and validation of a risk prediction model
Yilin ZHOU ; Qingqing FAN ; Peng PENG ; Xintong LIU ; Hong JIANG ; Pingfeng HE ; Dan DENG
Journal of Chongqing Medical University 2025;50(10):1434-1441
Objective:To investigate the influencing factors for sarcopenia in hospitalized patients,to construct a risk prediction model for sarcopenia in elderly hospitalized patients,and to provide a quantitative tool for early screening and intervention of sarcopenia based on the integration of multi-dimensional indicators.Methods:A retrospective analysis was performed for the data of 2105 elderly patients who were hospitalized in The First Affiliated Hospital of Chongqing Medical University from March 2016 to June 2023.The least absolute shrinkage and selection operator analysis was used for the screening of variables,and the logistic regression analysis was used to investigate the influencing factors for sarcopenia.A predictive model was constructed,and internal and external validation was performed.The Shapley additive explanations model was used to analyze feature contributions,and a nomogram model was constructed to visualize and interpret the results.Results:The 1259 patients from March 2016 to December 2020 were randomly divided into a training set with 882 patients and an internal test set with 377 patients at a ratio of 7∶3,and the 846 patients from January 2021 to June 2023 were established as the external validation set.A total of 489 cases of sarcopenia(55.44%)were detected in the training set.The logistic regression analysis based on the training set showed that asthenia,dependence on Activity of Daily Living,malnutrition,and in-creasing age were risk factors for sarcopenia(odds ratio[OR]>1,P<0.05),and male sex,normal body mass index,and overweight were protective factors against sarcopenia(OR<1,P<0.05).The model had an AUC of 0.876(95%CI=0.854-0.899)in the training set,0.883(95%CI=0.849-0.918)in the internal test set,and 0.750(95%CI=0.717-0.783)in the external validation set,suggesting that the model had good performance.The decision curve analysis showed that the nomogram model had a good clinical value.Conclu-sion:The predictive model for sarcopenia has good performance and holds promise for clinical application.
4.Best evidence summary for preventing and managing post-transplant diabetes mellitus in lung transplant patients
Yao HUANG ; Lihua CHEN ; Qingqing SHENG ; Xinning WANG ; Tingting HE ; Yufeng TAN ; Shuqin ZHANG
Chongqing Medicine 2025;54(7):1667-1672,1678
Objective To retrieve,analyze and synthesize evidence on post-transplant diabetes mellitus(PTDM)in lung transplant patients,providing reference for clinical healthcare professionals in preventing and managing PTDM in lung transplant patients.Methods Based on the"6S"evidence model,systematic searches were conducted across guideline websites,professional associations,and Chinese/English databases regarding post-transplant diabetes mellitus(PTDM)in lung transplant patients.The search period spanned from data-base inception to January 2025.Two researchers independently completed literature screening,quality assess-ment,and evidence extraction.Results A total of 14 articles were included,comprising 1 clinical decision,2 guidelines,5 expert consensuses,2 specifications,1 evidence summary,and 3 systematic reviews.Twenty-four pieces of best evidence were synthesized from seven aspects:risk factors,diagnosis,screening,prevention,treatment,glycemic control targets,and health education.Conclusion The best evidence for preventing and managing post-transplant diabetes mellitus in lung transplant patients provides an evidence-based foundation for clinical practice among healthcare professionals.Evidence should be selected and applied according to spe-cific clinical situations and patient needs.
5.Intelligent precision minimally invasive treatment of lateral lymph nodes in papillary thyroid carcinoma
International Journal of Surgery 2025;52(1):7-14
Papillary thyroid carcinoma (PTC) is prone to lateral lymph node metastasis (LLNM). It is crucial to assess the status of lateral lymph nodes accurately before surgery, determine the appropriate surgical scope and minimize trauma to patients while thoroughly cleaning. Preoperative evaluation is constantly advancing towards intelligence and precision, and the use of contrast enhanced ultrasound, detection of fine needle aspiration eluent, three-dimensional visualization technology, and contrast enhanced CT-based deep learning model in clinical practice can improve the accuracy of diagnosing LLNM. The new directions for the development of preoperative evaluation include contrast enhanced US, new fine needle aspiration eluent markers, rapid detection of eluent, the combination of radiomics and artificial intelligence. The exploration of risk factors for LLNM has been a hot research topic in recent years, and clinical prediction models can be constructed based on different risk factors and applied in clinical practice. This article presents the top ten risk factors commonly used in clinical research and lists multiple new predictive indicators, which are combined with nomograms for personalized prediction. At the same time, the controversial points in the clinical management of occult LLNM are discussed, as well as the latest progress in the treatment of lateral lymph nodes in PTC.
6.Clinical application value of three-dimensional visualization technology in the precise diagnosis and treatment of locally advanced differentiated thyroid cancer
Hai YAN ; Jian ZHU ; Dan WANG ; Changrui LIU ; Yixin LIU ; Dongliang ZHAI ; Yuanyuan LIU ; Yuan LI ; Qingqing HE
International Journal of Surgery 2025;52(1):19-27
Objective:To investigate the feasibility and effectiveness of three-dimensional visualization technology in the precise diagnosis and treatment of locally advanced differentiated thyroid cancer(DTC).Methods:A retrospective analysis was conducted on the clinical data of 196 patients with locally advanced DTC treated at the 960th Hospital of the PLA from December 2021 to August 2023. The cohort included 71 male and 125 female patients, with a mean age of 43.7 years (rangd from 18 to 77 years). All patients underwent neck-enhanced CT scans and were divided into two groups: the study group( n=102), which underwent preoperative three-dimensional visualization of CT data, and the control group( n=94), which did not. Baseline data for both groups were matched using SPSS27.0 with 1∶1 propensity score matching (PSM) and the caliper value was 0.02. A total of 49 patients were included in each group, including 35 first-time surgeries and 14 reoperation. Among the 70 first-time surgeries, 29 patients underwent robotic surgery and 41 underwent open surgery. Among the 28 reoperations, 4 underwent robotic surgery and 24 underwent open surgery. In the study group, three-dimensional visual models were used to comprehensively evaluate the tumor and metastatic lesion size, spatial location, and adjacent relationship with surrounding organs, surgical treatments were guided by these models, whereas the control group relied on two-dimensional imaging for guidance. The clinical data were statistically analyzed using SPSS27.0. Results:All operations were successfully completed. There were no statistical differences in baseline data between the two groups( P>0.05). Among first-time surgeries, the study group showed shorter operation times [175(145, 200) min vs 205(182, 249) min, P<0.001], a lower incidence of postoperative chyle leak (0 vs 8.57%, P=0.027), a higher rate of robotic surgery (48.57% vs 34.28%, P=0.225), a greater number of harvested lymph nodes [46(40, 62) vs 37(28, 56), P=0.032], a greater number of cervical lymph node metastasis[15(7, 22) vs 5(1, 14), P=0.004] and a larger diameter of metastasis lymph nodes[12(10, 16) mm vs 4(1, 10) mm, P<0.001]. There were no significant differences in intraoperative blood loss, postoperative drainage days and incidence of hypoparathyroidism( P>0.05). During the reoperation, the study group had shorter operation times[103.5(95.0, 122.5) min vs 146.50(133.25, 172.25) min, P<0.001], less intraoperative blood loss[12.50(8.75, 22.50) mL vs 30.00(17.50, 35.00) mL, P=0.021], fewer postoperative drainage days[5.00(4.00, 6.00) d vs 6.00(5.00, 7.25) d, P=0.016] and a lower incidence of hypoparathyroidism(7.14% vs 42.86%, P=0.038).The robotic surgery rate was higher in the study group (21.42% vs 7.14%, P=0.596). There were no significant differences in lymph node dissection numbers, metastatic lymph node counts, or chyle leak incidences between the two groups ( P>0.05). No acute bleeding or incision infection occurred in any patient postoperatively. Conclusion:Three-dimensional visualization technology is an effective preoperative assessment method for evaluating the resectability of tumors and metastases lesions in locally advanced DTC. It enhances the accuracy and safety of surgery for locally advanced DTC.
7.Exploration of the application of vehicle-mounted 5G remote mobile robotic surgical system in thyroid surgery
Meng WANG ; Wen TIAN ; Qingqing HE ; Guolou LI ; Jian ZHU ; Xiaodong MA ; Wei WEI ; Qiongqiong TAN ; Jinzhi HU ; Yingying WANG ; Peng ZHOU ; Gang WANG ; Yixin LIU ; Hejun WANG ; Yu LIU ; Lihu LIU
International Journal of Surgery 2025;52(1):28-32
Objective:To investigate the feasibility and safety of implementing a domestic vehicle-mounted remote mobile robotic surgical system in thyroid surgery applications, integrated with 5G communication technology.Methods:Using the main system located on the vehicle-mounted mobile robot operating platform of the 960th Hospital of PLA Joint Logistics Support Force and the slave system of Weifang Traditional Chinese Hospital, the remote radical thyroidectomy 5G communication technology, and analyze the clinical and information transmission data of two female patients who underwent remote mobile robot thyroid cancer surgery on October 21, 2024 at Weifang Traditional Chinese Medicine Hospital.Results:The remote radical thyroidectomy was conducted by the robosurgeons utilizing a vehicle-mounted mobile robotic surgical system, and the procedure was successfully completed without necessitating intermediate open surgery. The operation durations for patient 1 and patient 2 were 135 minutes and 108 minutes, respectively, with 7 and 13 lymph nodes dissected, respectively. The average delay in surgical data transmission was recorded at 61.9 milliseconds, with no instances of signal interruption or frame loss. The procedure proceeded smoothly, without any jamming, and the audio and video transmissions were consistently clear. Follow up for 21 days after surgery showed no complications such as hoarseness, skin damage, or lymphatic fistula.Conclusion:The implementation of a vehicle-mounted remote mobile robotic surgery system for thyroid surgery has demonstrated safety and feasibility. Furthermore, the utilization of the 5G network offers rapid data transmission and minimal latency, closely approximating the therapeutic efficacy of traditional robotic thyroidectomy.
8.Effects of Huangqin Decoction on acute lung injury by regulating mTOR/Akt/PI3K signaling pathway based on network pharmacology and cell experiment
Hong WEI ; Qingqing HE ; Yuting HOU ; Jingyin MAI
International Journal of Traditional Chinese Medicine 2025;47(12):1718-1725
Objective:To analyze the molecular mechanism of Huangqin Decoction in the treatment of acute lung injury (ALI) with network pharmacology; To conduct experimental validation.Methods:Active compounds and corresponding targets of Huangqin Decoction were retrieved from the TCMIP database. ALI-related targets were obtained from GeneCards, DisGeNet, TTD, and OMIM, and the intersection targets were obtained. The intersection targets were imported into the string database to build the PPI network, and the core targets were obtained through topology analysis by Cytoscape 3.10.1 software. GO and KEGG pathway enrichment analyses were conducted using clusterProfiler software. 16 SD rats were divided into two groups ( n = 8 per group) with random number table method: control and Huangqin Decoction. Rats in the Huangqin Decoction group received Huangqin Decoction by gavage at a dosage of 40 mg/kg, while the control group was administered an equal volume of distilled water. After seven consecutive treatments, drug-containing serum was collected. A549 cells were divided into four groups: control, model, Huangqin Decoction, and received relevant drugs as intervention for 24 h. Levels of SOD, MDA, GSH-Px, IL-1β, TNF-α, and IL-6 in the culture supernatant were measured by ELISA. Apoptosis was analyzed by flow cytometry. The expressions of PI3K, p-PI3K, Akt, p-Akt, mTOR, p-mTOR, LC3Ⅱ/Ⅰ, and Beclin-1 proteins were determined by Western blot. Results:A total of 137 active compounds and 178 common targets were identified in Huangqin Decoction, with TP53, AKT1, STAT3, TNF, IL6, and ESR1 as core nodes. GO enrichment indicated involvement in oxidative stress and responses to lipopolysaccharides, bacterial molecules, and hypoxia. KEGG analysis revealed enrichment in lipid and atherosclerosis, PI3K-Akt signaling pathway, hepatitis, MAPK signaling pathway, prostate cancer, small-cell lung cancer, and mTOR signaling pathway. In cell experiments, compared with the model group, Huangqin Decoction and inhibitor groups showed increased A549xibo ( P<0.05); levels of IL-1β, TNF-α, IL-6, and MDA in the supernatant were reduced ( P<0.05 or P<0.01), while SOD and GSH-Px levels were elevated ( P<0.05 or P<0.01); the apoptosis rate decreased ( P<0.05 or P<0.01); the expressions of LC3-Ⅱ/Ⅰ and Beclin-1 proteins decreased ( P<0.05 or P<0.01), whereas the expressions of p-mTOR/mTOR, p-Akt/Akt, and p-PI3K/PI3K increased ( P<0.05 or P<0.01). Conclusion:Huangqin Decoction exerts protective effects against ALI mainly by reducing cellular autophagy, and its mechanism may be related to the activation of the mTOR/Akt/PI3K signaling pathway.
9.Association Between Low Birth Weight and Dementia Risk:A Large-scale Prospective Study
Xinyue YU ; Qingping XUE ; Jingyi LI ; Peiqi ZHANG ; Qingqing OUYANG ; Xiaoxue LUO ; Qian HE ; Yongliu WANG ; Ying ZHAO ; Xiangwang HE ; Fan LI ; Yunhaonan YANG ; Xiongfei PAN
Journal of Sichuan University (Medical Sciences) 2025;56(3):697-710
Objective To investigate the association between birth weight and dementia risk and the mediating roles of chronic diseases,and to assess potential biological pathways underlying the birth weight-associated dementia risk based on large-scale proteomics.Methods We used data from 279 743 participants aged 40 to 69 years enrolled in the UK Biobank.Birth weight was categorized into low birth weight(≤2 500 g),normal birth weight(2 500-3 999 g),and macrosomia(≥4 000 g).Multivariable Cox proportional hazards regression models were used to assess the associations between birth weight categories and all-cause dementia and its subtypes(Alzheimer's disease and vascular dementia).Proteomics analyses were conducted to identify proteins and the potential pathways involved.Results Low birth weight was associated with higher risks for all-cause dementia and its subtypes.The hazard ratios were 1.18(95%CI,1.08-1.30)for all-cause dementia,1.14(95%CI,1.00-1.31)for Alzheimer's disease,and 1.22(95%CI,1.01-1.48)for vascular dementia.A non-linear relationship was observed between birth weight and dementia risk(P for nonlinearity<0.001).Certain cardiometabolic diseases in middle-aged adults,such as diabetes,stroke,hypertension,and dyslipidemia,played a significant mediating role in the relationship between low birth weight and dementia risk,with the mediation proportion being 6.3%to 15.8%.Proteomic analyses identified 21 proteins linked to both low birth weight and all-cause dementia risk,which were significantly enriched in the pathways for viral protein interaction with cytokines and cytokine receptors,adipocytokine signaling,and cytokine-cytokine receptor interaction.Conclusion Low birth weight is positively associated with dementia risk.Cardiometabolic diseases in middle-aged adults may mediate the relationship between low birth weight and dementia risk.A number of proteins and the associated pathways underscore the relationship between low birth weight and dementia risk.
10.The application of surgical robots in head and neck tumors.
Xiaoming HUANG ; Qingqing HE ; Dan WANG ; Jiqi YAN ; Yu WANG ; Xuekui LIU ; Chuanming ZHENG ; Yan XU ; Yanxia BAI ; Chao LI ; Ronghao SUN ; Xudong WANG ; Mingliang XIANG ; Yan WANG ; Xiang LU ; Lei TAO ; Ming SONG ; Qinlong LIANG ; Xiaomeng ZHANG ; Yuan HU ; Renhui CHEN ; Zhaohui LIU ; Faya LIANG ; Ping HAN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(11):1001-1008

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