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.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.
3.Machine learning-enabled precision transfusion: research progress, challenges, and prospects
Jiang DENG ; Chaojie WANG ; Ning ZHAO ; Liping LYU ; Ping MA ; Ke ZHANG ; Yanyu ZHANG
Chinese Journal of Blood Transfusion 2026;39(7):967-976
Blood transfusion is an important life-support measure in modern medicine. As clinical demand for transfusion continues to rise, blood supply remains under persistent strain, making the efficient utilization of this precious medical resource a critical component of blood management. Accurate prediction of transfusion needs is of great significance for optimizing blood resource allocation and conserving blood products. Traditional transfusion decision-making relies on clinical experience and simplified scoring systems, which are insufficient to meet the demands of precision medicine. Machine learning (ML) technology can integrate multidimensional data—including demographic characteristics, laboratory indicators, surgical information, and dynamic physiological waveforms—to construct high-performance predictive models, offering a new approach to transfusion prediction. This article systematically reviews the application progress of ML in transfusion prediction across clinical scenarios such as trauma, the perioperative period, and obstetrics. In trauma, ML has been applied to early massive transfusion prediction, prehospital transfusion decision-making, and precise prediction in pediatric trauma. In the perioperative field, applications span specialties including traumatic brain injury, orthopedic surgery, cardiovascular and major vascular surgery, and hepatic surgery. In obstetrics, models can effectively predict postpartum hemorrhage and transfusion requirements associated with cesarean section. Studies have shown that algorithms such as random forest, gradient boosting machines, and deep neural networks achieve area under the receiver operating characteristic curve (AUC) values of 0.83-0.98 in massive transfusion prediction, 0.75-0.97 in perioperative scenarios, and 0.80-0.89 in obstetric transfusion prediction—significantly outperforming traditional scoring tools. However, current studies are generally limited by single-center retrospective designs, insufficient external validation, and inadequate reporting standards; limited model interpretability and challenges in clinical integration further constrain practical translation. Future research should focus on constructing multicenter data cohorts, integrating multimodal data, conducting prospective implementation studies, and deeply embedding models within electronic health record systems, thereby advancing the application of ML to optimize clinical transfusion decision-making.
4.Subacute toxicity study of triethylenediammonium perchlorate ammonium complex salt in rats
Hui DENG ; Hongni LIU ; Huan LI ; Ting GAO ; Cunzhi LI ; Xiaoqiang LYU ; Zhiyong LIU ; Junhong GAO
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(9):693-697
Objective:To investigate the subacute toxicity and target organs of triethylenediammonium perchlorate ammonium complex salt (DAP-4) .Methods:In August 2024, 40 SPF-grade SD rats were selected, with 10 rats in each group, half male and half female. There were 45, 140, and 420 mg/kg DAP-4 groups and a control group. Rats in each dose DAP-4 group were orally administered the corresponding amount of DAP-4 solution, while the control group was given the same dose of 1% sodium carboxymethyl cellulose. SD rats were given intragastric administration once a day for 28 consecutive days. The behaviors, histopathological changes, and blood physiological and biochemical indicators of rats were detected at the corresponding time points respectively. One-way analysis of variance was used for the comparison of quantitative data between groups.Results:Compared with the control group, the body weight, food intake and food utilization rate of female and male rats in the 420 mg/kg DAP-4 group were significantly decreased ( P<0.05), while no abnormalities were observed in the other dose groups. Compared with the control group, the white blood cell count of female rats in the 420 mg/kg DAP-4 group decreased, while the hemoglobin and hematocrit decreased and the total serum protein increased of male rats ( P<0.05). Compared with the control group, fibrinogen was increased in both female and male rats in the 420 mg/kg DAP-4 group, and the thrombin time of female rats was shortened ( P<0.05). In each dose group, the livers of female and male rats showed varying degrees of vacuolar degeneration, and the renal tubules of female rats were swollen. Conclusion:420 mg/kg DAP-4 can cause damage to the liver and kidney of rats, and the maximal no effect level of DAP-4 for rats is 140 mg/kg.
5.Establishment of a mouse model of traumatic temporomandibular joint ankylosis
Ning LI ; Tianyang LYU ; Yumin HENG ; Changkui LIU ; Yayuan GUO ; Tiange DENG ; Kaijin HU
Chinese Journal of Stomatology 2025;60(10):1162-1168
Objective:A C57/BL6 mouse model of traumatic temporomandibular joint ankylosis (TTMJA) was established through composite trauma to lay the foundation for studying the pathophysiology of TTMJA.Methods:This study was conducted from January 2024 to February 2025. Forty-two 4-weeks old C57/BL6 mice, numbered 1 to 42, are randomly assigned to a control group ( n=21) and an experimental group ( n=21) using a computer-generated random number sequence. The experimental group undergoes modeling surgery on the left temporomandibular joint (TMJ), while the control group is routinely raised without special treatment. At 12 weeks post-surgery, the TMJ complex of both groups is assessed via body weight and mouth opening measurements, gross observation, micro-CT, and histological staining to evaluate model establishment. Results:At 12 weeks post-operation, in the experimental group, the body weight of mice [(27.75±1.08) g] did not show a significant difference compared with that of the control group [(30.80±0.29) g]( t=0.54, P=0.610). The maximum vertical passive mouth opening [(1.70±0.26) mm] in the experimental group was significantly lower than that in the control group [(3.43±0.21) mm]( t=8.92, P<0.001). Gross observation indicated that the right TMJ structure of the experimental-group mice was normal, while irregular hyperplasia occurred in the left TMJ complex. Micro-CT revealed that at 12 weeks post-operation, the right joint structure of the experimental-group mice was normal, with regular condyles and glenoid fossae. On the left side, a large amount of bone hyperplasia occurred on the lateral side of the joint in the condyles and glenoid fossae, forming two irregular bone masses, and there was an uncalcified radiolucent zone between the bone masses. In histological staining, no new cartilage or bone tissue was observed in the left joint space of the control-group mice, and the articular disc structure was normal. In the experimental-group mice, obvious new cartilage and calcified bone tissue were visible on the lateral side of the left joint space. A bone bridge was formed between the condyles and glenoid fossae, the articular disc structure disappeared, and bony ankylosis occurred. Conclusions:In this experiment, a TTMJA model of C57/BL6 mice was initially established by removing the articular disc and damaging part of the fibrous cartilage of the glenoid fossae and condyles, providing an experimental platform for further research on the pathogenesis of TTMJA.
6.Development status and thinking of medical engineering in TCM medical institutions in Guizhou Province
Dan LYU ; Xian-jiang WEI ; Ze-lin WANG ; Bing ZHANG ; Da-hai DENG ; Ying LIU
Chinese Medical Equipment Journal 2025;46(5):84-90
Medical engineering in TCM medical institutions in Guizhou Province was described in terms of its development status and problems in functional positioning,professional title appraisal,unbalanced staff composition and discipline foun-dation.Some suggestions were put forward including determining the functional positioning and management mode of medical engineering institutions,promoting the professional title system for medical engineering staffs,strengthening medical engineering team and enhancing medical engineering discipline.References were provided for the development of medical engineering in TCM medical institutions in Guizhou Province.[Chinese Medical Equipment Journal,2025,46(5):84-90]
7.Phase II study of radiotherapy combined with anlotinib in the treatment of inoperable non-small cell lung cancer
Haiyuan LI ; Yupei YUAN ; Tao ZHANG ; Lei DENG ; Wenyang LIU ; Wenqing WANG ; Xin WANG ; Jima LYU ; Zongmei ZHOU ; Qinfu FENG ; Zefen XIAO ; Nan BI ; Jianyang WANG
Chinese Journal of Radiation Oncology 2025;34(4):334-339
Objective:To analyze the safety and short-term efficacy of thoracic radiotherapy combined with anlotinib in the treatment of inoperable non-small cell lung cancer (NSCLC).Methods:A prospective study was conducted on patients with unresectable locally advanced NSCLC who were intolerant to concurrent chemoradiotherapy and treated at the Department of Radiation Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, from October 2020 to September 2023. Anlotinib was administered orally concurrently with radiotherapy (days 1-14, 21 days per cycle, for 3 cycles). Adverse effects and short-term tumor recurrence were observed from the beginning of radiotherapy to the 3-month post-radiotherapy. Kaplan-Meier method was used to calculate progression-free survival (PFS) and overall survival (OS) rates from the date of initial treatment (induction therapy), and intergroup comparisons were performed using the log-rank test.Results:The median age was 62 years (range:42-76 years), with a male predominance ( n=36, 88%) of the included 41 patients. The incidence of grade 3-4 acute hematologic adverse events was 20% (8 cases); the incidence of grade 3 hemoptysis was 2% (1 case), with no grade 4 hemoptysis; the incidence of grade 3-4 radiation pneumonitis was 10% (4 cases). No grade 5 adverse events were observed in the entire cohort. With a median follow-up of 19.7 months (range: 7.1-50.1 months), 19 patients (46%) experienced recurrence, including 4 patients (10%) with local recurrence, 6 patients (15%) with regional lymph node recurrence, and 11 patients (27%) with distant metastases. The 1-year PFS rate was 78.3%. 8 patients (20%) died, including 3 patients died from COVID-19 infection during the follow-up period, 1 patient who died from hypostatic pneumonia due to prolonged bed rest after cerebral infarction, and 4 patients died from tumor-related causes. The 1-year OS rate was 78.0%. Conclusions:Thoracic radiotherapy combined with anlotinib demonstrates good safety, manageable adverse events, and favorable short-term efficacy in NSCNC patients intolerant to concurrent chemoradiotherapy.
8.Prognostic value of single PET-CT after chemotherapy combined with immunotherapy in patients with non-small cell lung cancer treated with radiotherapy
Zhenghui MA ; Yuqi WU ; Guangqian JI ; Zongmei ZHOU ; Qinfu FENG ; Zefen XIAO ; Jima LYU ; Xin WANG ; Jianyang WANG ; Wenyang LIU ; Lei DENG ; Wenqing WANG ; Nan BI ; Junlin YI ; Tao ZHANG
Chinese Journal of Radiation Oncology 2025;34(11):1111-1116
Objective:To evaluate the role of a single PET-CT scan in predicting survival and prognosis in patients with non-small cell lung cancer (NSCLC) who did not undergo surgery but received radiotherapy after neoadjuvant chemotherapy combined with immunotherapy.Methods:A retrospective analysis was conducted on the data of 23 NSCLC patients treated at the Cancer Hospital of the Chinese Academy of Medical Sciences from May 2022 to June 2024. All patients were pathologically confirmed, received neoadjuvant chemotherapy combined with immunotherapy, did not undergo surgery for various reasons, and instead received radiotherapy. Each patient underwent only one PET-CT scan after neoadjuvant chemotherapy combined with immunotherapy and before radiotherapy. According to the maximum standardized uptake value (SUV max) on PET-CT, patients were divided into the low-uptake group (SUV max < 8, n=12) and high-uptake group (SUV max ≥ 8, n=11). Survival analysis was performed using the Kaplan-Meier method with survival curves plotted. Univariate analysis of influencing factors of survival was conducted using the Cox proportional hazards regression model. Clinical characteristics and survival outcomes of the two groups were compared, including progression-free survival (PFS) and overall survival (OS). Results:The 1-year PFS rates were 100% in the low-uptake group, 54.5% in the high-uptake group. This difference was statistically significant ( P=0.007). The 1-year and 2-year OS rates were both 100% in the low-uptake group, the 1-year and 2-year OS rates were both 90.9% in the high-uptake group, with no statistically significant difference ( P=0.394). Univariate Cox analysis identified age as an independent factor affecting PFS. Conclusions:For NSCLC patients who did not undergo surgical resection but received radiotherapy after neoadjuvant chemotherapy combined with immunotherapy, a single PET-CT scan before radiotherapy has potential value in predicting PFS. However, clinical studies with larger sample size and longer follow-up are required to evaluate its predictive value for OS.
9.Systemic inflammatory score predicts survival of patient with unresectable stage Ⅲ non-small cell lung cancer treated by definitive chemoradiotherapy combined with consolidation immunotherapy
Shihong LUO ; Yupei YUAN ; Yu WANG ; Yin YANG ; Tao ZHANG ; Lei DENG ; Wenyang LIU ; Wenqing WANG ; Xin WANG ; Jima LYU ; Zongmei ZHOU ; Jianyang WANG ; Nan BI
Chinese Journal of Radiation Oncology 2025;34(10):993-1000
Objective:To analyze the prognostic value of systemic inflammatory score (SIS) in patients with unresectable stage Ⅲ non-small cell lung cancer (NSCLC) treated by definitive chemoradiotherapy (dCRT) combined with or without consolidation immunotherapy with immune checkpoint inhibitor (ICI).Methods:The medical record data of 229 patients who received dCRT from January 2014 to December 2017 and 183 patients who received dCRT combined with any form of ICI (induction, concurrent, consolidation or combination) from August 2018 to August 2022 in the Cancer Hospital, Chinese Academy of Medical Sciences were retrospectively analyzed. Upon admission, 1 and 3 months after treatment (efficacy evaluation) and upon tumor recurrence, peripheral blood count was collected, and neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR) and SIS were calculated, respectively. The SIS before, 1 and 3 months after treatment was defined as SIS 0, SIS 1 and SIS 3, respectively. Overall survival (OS) was considered as the primary endpoint. All patients were divided into dCRT group and dCRT+ICI group according to whether received immunotherapy, and then divided into different subgroups based on the cutoff value of SIS determined by X-Tile software. The prognostic value of SIS was evaluated by Kaplan-Meier survival analysis. The area under the receiver operating characteristic (ROC) curve (AUC) was used to evaluate the predictive efficiency. The predictive value of SIS was compared with inflammatory indexes (NLR, PLR) and independent prognostic factors. Results:In the dCRT group, the optimal cutoff value of SIS 0 was 590×10 9 and 530×10 9 in the dCRT+ICIs group. Univariate and multivariate analyses indicated that SIS 0 was an independent predictive factor of OS, progression - free survival (PFS), local - recurrence free survival (LRFS) and distant metastasis free survival (DMFS) in the dCRT group, but not associated with DMFS in the dCRT+ICI group. In the dCRT group, SIS 1>970×10 9 (optimal cutoff value) predicted poor OS ( HR=2.512, 95% CI=1.622-3.198, P<0.001), PFS ( HR=1.726, 95% CI=1.187-2.509, P=0.004), and DMFS ( HR=1.625, 95% CI=1.029-2.564, P=0.037). In the dCRT+ICI group, SIS 3>1570×10 9 (optimal cutoff value) indicated poor OS ( HR=5.107, 95% CI=1.731-15.069, P=0.003). In both groups, the AUC of SIS was higher than NLR, PLR and other traditional clinicopathological predictive indexes except T stage. Conclusions:SIS before treatment can be considered as an independent, dependable and easily acquired prognostic marker in patients with unresectable stage Ⅲ NSCLC treated by dCRT or dCRT+ICI. In the dCRT+ICI group, the optimal time point of post-radiotherapy SIS (3 months after treatment) is postponed than that (1 month after treatment) in the dCRT group.
10.Development and validation of an intelligent surveillance system for upper gastrointestinal high-risk patients
Mei DENG ; Guoen LYU ; Conghui SHI ; Jia LI ; Lianlian WU ; Jun LIU ; Honggang YU
Chinese Journal of Digestive Endoscopy 2025;42(3):190-196
Objective:To develop an intelligent surveillance system for identifying upper gastrointestinal high-risk patients and assigning surveillance intervals, and to verify its efficacy.Methods:The endoscopic and pathological reports of 23 035 patients undergoing endoscopy at Renmin Hospital of Wuhan University from January to October 2021 were collected retrospectively. A training set of 17 934 patients (January to August) and a test set of 5 101 patients (September to October) were established. Keywords in the endoscopic and pathological reports were extracted by the intelligent surveillance system, and high-risk patients were automatically identified and classified into 7 risk levels. Then the standardized surveillance intervals were assigned based on the guideline. Guideline-based surveillance intervals assigned by expert endoscopists based on endoscopic and pathological reports were used as the golden standard. The accuracy of the intelligent surveillance system was calculated. Of the patients within the test set, 189 were hospitalized and the surveillance intervals given by physicians could be obtained from the electronic health records. The accuracy of the intelligent surveillance system with that of physicians from different departments was compared. Then 67 patients were randomly selected from 189 patients by simple random sampling to evaluate the adjunctive effect of the system in assigning surveillance intervals among 3 endoscopists.Results:The overall accuracy of the intelligent surveillance system in identifying upper gastrointestinal high-risk patients was 99.94% (5 098/5 101), and that of assigning surveillance intervals to correctly included patients was 100.00% (534/534). The intelligent surveillance system achieved significantly higher accuracy compared with all physicians from different departments [98.94% (187/189) VS 35.45% (67/189), χ2=118.01, P<0.001] as well as physicians from department of gastroenterology [100.00% (117/117) VS 24.79% (29/117), χ2=86.01, P<0.001]. With the assistance of the intelligent surveillance system, the endoscopists' accuracy of assigning surveillance intervals to 67 patients was significantly improved [55.22% (111/201) VS 22.39% (45/201), χ2=58.68, P<0.001]. Conclusion:The intelligent surveillance system can accurately identify upper gastrointestinal high-risk patients and assign surveillance intervals according to risk levels, which can alleviate the workload of doctors and improve the follow-up rate of patients.


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