1.A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation
Hongli ZHANG ; Jiayuan DAI ; Yan WANG ; Weihong ZHANG ; Wenbin MA ; Hanhui FU ; Chunxia HE ; Jun ZHENG ; Wenda WANG ; Wei ZUO ; Yaping LIU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):60-67
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the
2.Gender-specific patterns of external occipital protuberance hyperplasia: associations with nuchal ligament ossification and cervical sagittal imbalance in myelopathy patients
Zhaoyang GONG ; Hanqiu SUN ; Dachuan LI ; Xiao LU ; Siyang LIU ; Ximeng WANG ; Xinlei XIA ; Feizhou LYU ; Jianyuan JIANG ; Fei ZOU ; Hongli WANG ; Xiaosheng MA
Asian Spine Journal 2026;20(1):10-19
Methods:
Cervical radiographs were analyzed. EOP hyperplasia was classified into three subtypes with standardized length measurements. Variables encompassed demographics, ONL-related indices, and sagittal parameters. Subtype comparisons and multivariate regression analyses (with EOP length as dependent variable) were conducted.
Results:
Analysis of 187 CSM patients (64.2% male) identified gender-specific patterns: males exhibited greater EOP length (9.4±6.8 mm vs. 4.6±3.4 mm, p<0.001). Type III EOP demonstrated male predominance (82.4% vs. type I 31.8%, type II 51.4%; p<0.001), with associated longer hyperplasia length (11.6±6.6 mm vs. type II 5.1±1.9 mm, p<0.001). Type III EOP was associated with higher ONL prevalence (type III 64.8% vs. type I 45.5%, type II 41.9%; p=0.010) and longer ONL osteophyte length (type III 18.8±9.8 mm vs. type I 14.2±8.1 mm, type II 14.2±9.4 mm; p=0.046). Multivariate regression confirmed male sex (β=–3.82, p=0.009), ONL osteophyte length (β=0.16, p=0.017), T1 slope (β=0.27, p=0.041), and spino-cranial angle (β=–0.19, p=0.009) as factors independently associated with EOP length (adjusted R²=0.382).
Conclusions
Severe EOP hyperplasia exhibits a male-predominant distribution pattern and demonstrates significant radiological associations with ONL and cervical sagittal imbalance in CSM patients. These findings advocate for EOP evaluation in clinical evaluations to identify high-risk biomechanical profiles.
3.Linc00426 competitively binds to USP3 with miR-455-5p to promote invasion and metastasis of oral squa-mous cell carcinoma cells
Yanqiao ZHAO ; Lu LIU ; Xiaona WANG ; Chonggao YIN ; Hongli LI
Journal of Practical Stomatology 2025;41(6):774-780
Objective:To study the effects of Linc00426 on the migration,invasion and proliferation of oral squamous carcinoma cells(OSCC).Methods:TCGA database was used to query the differential expression of Linc00426.RT-qPCR was used to detect the expression level of Linc00426 in normal human oral keratinocytes(NHOK)cells and various OSCC cells lines,the knockout effi-ciency of Linc00426 at 3 sites and the expression level of miR-455-5p.Transwell test and EdU test were used to detect the changes of the migration,invasion and proliferation of CAL27 cells.Bioinformatics databases was used to predict subcellular localization and downstream miRNAs and target proteins of Linc00426.Western blot assay was used to detect the changes of USP3 expression levels in CAL27 cells.Results:The expression level of Linc00426 was increased in OSCC tissue(P<0.05),and its expression in CAL27,HN4 and HN30 cells was higher than that in NHOK cells(P<0.05).Knocking out Linc00426 inhibited the migration,invasion,and proliferation ability of CAL27 cells(P<0.05).The bioinformatics database indicates that the subcellular localization of Linc00426 is in the cytoplasm;Linc00426 is negatively correlated with miR-455-5p,and miR-455-5p is negatively correlated with USP3,in which there are targeted binding sites.Knocking out miR-455-5p promoted the migration,invasion and proliferation of CAL27 cells(P<0.05).Knocking out USP3 inhibited the migration,invasion and proliferation of CAL27 cells(P<0.05).Knock out Linc00426 reduced the expression level of USP3,while knocking out miR-455-5p increased the expression level of USP3(P<0.05).Conclusion:Linc00426 plays a role as an oncogene in OSCC cells and could inhibit the migration,invasion and proliferation of the cells by targeting USP3 to regulate miR-455-5p.
4.Epidemic characteristics and changing trends of human brucellosis in Tangshan City, Hebei Province from 2007 to 2022
Wen GAO ; Jianqiang LIU ; Ling ZHANG ; Jie PEI ; Xiangbo LIU ; Hongli LIU ; Zheng LIU
Chinese Journal of Endemiology 2025;44(5):406-409
Objective:To analyze the epidemic characteristics and changing trends of human brucellosis in Tangshan City, providing a basis for brucellosis prevention and control.Methods:Brucellosis surveillance data and historical surveillance data of Tangshan City reported from 2007 to 2022 in China Disease Prevention and Control Information System were collected. A descriptive analysis using retrospective methods was conducted to summarize the epidemic situation, distribution of three (population, time, region) and pathogenic monitoring results of brucellosis. Joinpoint regression was used to analyze the trend of brucellosis incidence.Results:From 2007 to 2022, a total of 3 949 cases of brucellosis were reported in Tangshan City, with the annual incidence ranging from 0.24 per 100 000 to 7.17 per 100 000, showing an upward trend (AAPC = 18.42%, 95% CI: 10.16% - 24.67%, P < 0.001). The affected population was mainly composed of those aged 40 - 69 years old (3 582 cases, accounting for 90.71%), male (2 957 cases, accounting for 74.88%), and farmers (3 432 cases, accounting for 86.91%). The onset time was mainly concentrated from March to August. The average annual incidence rates of brucellosis in the eastern region, western region and the central urban area were 5.31 per 100 000, 1.84 per 100 000, and 1.42 per 100 000, respectively. There were statistically significant differences among different regions (χ 2 = 1 049.17, P < 0.001). Pathogenic monitoring results revealed that 12 Brucella strains were isolated, all identified as sheep type 3. Conclusions:The incidence of brucellosis in Tangshan City is on the rise from 2007 to 2022. The incidence is mainly among middle-aged and elderly male famers, and it shows s distinct seasonal pattern. It is suggested to strengthen the prevention and control of brucellosis in the whole city.
5.Simulation and comparative study of different modes of transcranial direct current stimulation intervention in stroke
Chinese Journal of Medical Physics 2025;42(4):510-516
Objective To analyze the cortical current distribution in stroke patients during anodal,cathodal and bi-hemispheric transcranial direct current stimulation(tDCS)interventions for providing a theoretical basis for the application of different modes of tDCS in the rehabilitation of stroke patients.Methods The 4 layers of head tissue structures including scalp,skull,cerebrospinal fluid and brain were reconstructed using MRI data,and assembled into a realistic head model using finite element simulation software.Then,the stroke lesion was constructed in the brain model,and the anode and cathode electrodes were constructed on the scalp model.Finally,the effective stimulation area,effective stimulation depth,and efficiency of anodal,cathodal and bi-hemispheric tDCS in the brain were simulated and analyzed.Results The results of simulation analysis showed that anodal tDCS had the strongest focusability and highest stimulation efficiency,while bipolar tDCS had the largest effective stimulation depth.In addition,the peak current densities generated by different modes of tDCS were all located at the boundary of the lesion area,and the effective stimulation areas inside the brain were also located at the lesion area.Conclusion tDCS is a promising treatment for rehabilitation following stroke.The simulation results indicate that anodal and bi-hemispheric tDCS may have superior stimulation effects than cathodal tDCS.
6.Construction and Validation of a Risk Prediction Model for Brucellosis Based on Deep Neural Networks
Siyuan LIU ; Biao SONG ; Guizhi LIU ; Jun WANG ; Lan XUE ; Jie SU ; Hongli WANG ; Xin SHEN
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(4):700-707
[Objective]To construct a prediction model for brucellosis by using a deep neural network algorithm to improve the early detection.[Methods]We collected the clinical data of 202 brucellosis patients and 319 non-brucellosis patients admitted to Hohhot Occupational Disease Prevention and Treatment Hospital in 2023,and analyzed data such as gender,age,blood routine indices and clinical diagnosis.A prediction model for brucellosis was constructed by using a deep neural network algorithm and optimized through 10-fold cross-validation.Performance metrics included sensitivity,false negative rate,specificity,false positive rate,accuracy,positive predictive value,negative predictive value,F1 score,and area under the receiver operating characteristic curve(AUC).The optimal model was interpreted by using SHapley Additive exPlanations(SHAP)to clarify decision-making logic and feature influencing mechanisms.[Results]Data visualization analysis revealed no significant difference between brucellosis and non-brucellosis groups.The optimal model demonstrated good performance:sensitivity(85.3%),specificity(92.1%),accuracy(89.5%),AUC(96.6%),95%CI(0.937,0.977).SHAP analysis identified age,platelet count,mean platelet volume,basophil ratio,red blood cell distribution width,and absolute basophil count as significant predictors of brucellosis.[Conclusions]The deep neural network prediction model constructed in this study has good performance and can provide reliable support for the early diagnosis,prevention and control of brucellosis.Identification of key brucellosis-related influencing features will help further understand the pathogenesis of the disease,and this model holds promise for broad clinical application in the future.
7.Clinical guideline for diagnosis and treatment of nonunion of osteoporotic vertebral fractures (version 2025)
Haipeng SI ; Le LI ; Junjie NIU ; Wencan ZHANG ; Fuxin WEI ; Jinqiu YUAN ; Qiang YANG ; Hongli WANG ; Guangchao WANG ; Shihong CHEN ; Yunzhen CHEN ; Xiaoguang CHENG ; Jianwen DONG ; Shiqing FENG ; Rui GU ; Yong HAI ; Tianyong HOU ; Bo HUANG ; Xiaobing JIANG ; Lei ZANG ; Chunhai LI ; Nianhu LI ; Hua LIN ; Hongjian LIU ; Peng LIU ; Xinyu LIU ; Sheng LU ; Shibao LU ; Chunshan LUO ; Lvy CHAOLIANG ; Lvy WEIJIA ; Xuexiao MA ; Wei MEI ; Chunyang MENG ; Cailiang SHEN ; Chunli SONG ; Ruoxian SONG ; Jiacan SU ; Honglin TENG ; Hui SHENG ; Beiyu WANG ; Bingwu WANG ; Liang WANG ; Xiangyang WANG ; Nan WU ; Guohua XU ; Yayi XIA ; Jin XU ; Youjia XU ; Jianzhong XU ; Cao YANG ; Maowei YANG ; Zibin YANG ; Xiaojian YE ; Hailong YU ; Xijie YU ; Hua YUE ; Zhili ZENG ; Xinli ZHAN ; Hui ZHANG ; Peixun ZHANG ; Wei ZHANG ; Zhenlin ZHANG ; Jianguo ZHANG ; Tengyue ZHU ; Qiang LIU ; Huilin YANG
Chinese Journal of Trauma 2025;41(10):932-945
Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.
8.Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique (version 2025)
Sihao HE ; Junchao XING ; Tongwei CHU ; Zhengqi CHANG ; Xigao CHENG ; Fei DAI ; Xiaobing JIANG ; Jie HAO ; Jiang HU ; Jinghui HUANG ; Tianyong HOU ; Fei LUO ; Bo LIAO ; Changqing LI ; Lei LIU ; Guodong LIU ; Peng LIU ; Sheng LU ; Weishi LI ; Yang LIU ; Zhen LIU ; Wei MEI ; Peifu TANG ; Bing WANG ; Bing WANG ; Ce WANG ; Hongli WANG ; Liang WANG ; Shengru WANG ; Xiaobin WANG ; Yang WANG ; Yingfeng WANG ; Zheng WANG ; Jianzhong XU ; Guoyong YIN ; Haiyang YU ; Qiang YANG ; Zhaoming YE ; Bin ZHANG ; Chengmin ZHANG ; Jun ZOU ; Qiang ZHOU ; Min ZHAO ; Rui ZHOU ; Xiaojun ZHANG ; Yongfei ZHAO ; Zhongrong ZHANG ; Zehua ZHANG ; Yingze ZHANG
Chinese Journal of Trauma 2025;41(11):1035-1047
For middle-aged and elderly patients with conditions such as spinal fractures and degenerative spinal diseases, spinal internal fixation is a core surgical procedure for reconstructing spinal stability, heavily relying on the biomechanical stability provided by pedicle screw systems. Whereas, these patients are often complicated by osteoporosis that can significantly compromise the stability of the bone-pedicle screw interface, leading to a marked increase in pedicle screw loosening and surgical failure rates. The bone cement-augmented pedicle screw technique, which involves injecting bone cement into the vertebral body or screw trajectory to optimize the mechanical properties of the bone-pedicle screw composite, has been proven to significantly enhance fixation strength and effectively prevent screw-related failures, thereby reducing the incidence of internal fixation failure in high-risk populations undergoing spinal fusion. However, the widespread clinical application of this technique has faced challenges such as inaccurate clinical decision-making (indication and contraindication selection), non-standardized operative practices, and insufficient awareness of complication prevention, resulting in considerable variability in clinical outcomes and even severe complications. To address this, Prof. Luo Fei from First Affiliated Hospital of Army Medical University initiated the project and the Chinese Association Orthopaedic Surgeons organized relevant experts to develop the Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique ( version 2025), based on current evidence. The guidelines put forward 8 recommendations regarding the clinical value, scope of application, and operational standards of the technique, aiming to provide evidence-based medical support and technical standardization for clinical decision-making.
9.Long-term hemodialysis survivors: a case series of 8 patients on dialysis for over 30 years and literature review
Minyan HU ; Jingyi CHEN ; Feng ZHU ; Nan WANG ; Jinghui LIU ; Aomei LI ; Jiawen TIAN ; Longkai LI ; Hongli LIN
Chinese Journal of General Practitioners 2025;24(12):1541-1544
We retrospectively analyzed 8 patients who had been on hemodialysis for over 30 years from two dialysis centers in Dalian, China. A literature review was conducted by searching PubMed, CNKI, Wanfang databases,and Chinese Medical Journal Network for cases of patients on hemodialysis for over 30 years. The 8 patients had good baseline health, with chronic glomerulonephritis as the primary renal disease and no comorbidities before initiating dialysis. They started hemodialysis between 21 and 38 years of age, predominantly using arteriovenous fistulas for vascular access. Dialysis was regular and adequate (KT/V 1.23-1.88). Key laboratory parameters, including hemoglobin (88-118 g/L), albumin (27.7-39.7 g/L), calcium (1.88-2.55 mmol/L), and phosphate (0.76-1.99 mmol/L), were generally within target ranges. Body mass index ranged from 15.20 to 22.96 kg/m2. This literature review of the study included 12 case reports and 4 orginal articles. Factors influencing long-term survival included baseline health status, primary renal disease, absence of comorbidities before dialysis initiation, age at dialysis initiation, type of vascular access, dialysis adequacy, complication management, and medical support. Standardized management and timely correction of complications can significantly improve prognosis and enhance long-term survival in hemodialysis patients.
10.Relationship between intraoperative hypothermia and early postoperative pulmonary complications in pediatric patients undergoing living donor liver transplantation
Guicheng ZHANG ; Yunxia LIU ; Hongli YU ; Wenli YU
Chinese Journal of Anesthesiology 2025;45(3):281-285
Objective:To evaluate the relationship between intraoperative hypothermia and early postoperative pulmonary complications (PPCs) in pediatric patients undergoing living donor liver transplantation (LDLT).Methods:This was a retrospective study. Medical records of pediatric patients of either sex, aged 4-24 months, diagnosed with congenital biliary atresia who underwent LDLT from January 2021 to March 2023 were collected from the electronic medical record system of Tianjin First Central Hospital. The collected data included general characteristics, intraoperative conditions, and PPCs such as postoperative pediatric acute respiratory distress syndrome, pneumonia, pleural effusion, atelectasis, and pulmonary edema within 1 week after operation. Additional indicators comprised the difference in systemic immune-inflammation index (SII) between 1 day before surgery and at the end of surgery (ΔSII), concentration of hypersensitive C-reactive protein (hs-CRP) at the end of surgery, postoperative mechanical ventilation time, and duration of intensive care unit stay. Pediatric patients were divided into PPCs group and non-PPCs group based on the development of PPCs. Logistic regression analysis was used to determine the relationship between factors associated with intraoperative hypothermia and PPCs.Results:A total of 226 pediatric patients were included in the study, with 126 cases in PPCs group and 100 cases in non-PPCs group. The results of logistic regression analysis showed that pre-reperfusion hypothermia, duration of hypothermia, ΔSII and concentrations of hs-CRP at the end of operation were independent risk factors for the occurrence of PPCs ( P<0.05). The area under the receiver operating characteristic curve of pre-reperfusion hypothermia and duration of hypothermia in predicting PPCs was 0.594 (95% confidence interval [ CI] 0.521-0.668, P=0.015) and 0.702 (95% CI 0.634-0.770, P<0.001), respectively. The area under the receiver operating characteristic curve of combination of factors associated with hypothermia (pre-reperfusion hypothermia, duration of hypothermia) and inflammatory indicators (ΔSII, plasma hs-CRP concentration at the end of surgery) in predicting PPCs was 0.977 (95% CI 0.959-0.995, P<0.001). Conclusions:Pre-reperfusion hypothermia and duration of hypothermia are independent risk factors for early PPCs in infants, and their predictive value for the development of PPCs is higher when combined with ΔSII and plasma hs-CRP concentration in pediatric patients undergoing LDLT.

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