1.Analysis of Clinical and Genetic Characteristics of SELENON-Related Myopathy
Xiaohong HUANG ; Min QIAN ; Lin CHEN ; Liying CUI ; Yi DAI
JOURNAL OF RARE DISEASES 2026;5(2):200-206
To summarize the clinical characteristics and genetic mutation spectrum of patients with SELENON-related myopathy(SELENON-RM), in order to improve awareness among physicians. A total of 12 patients from independent families with genetically confirmed SELENON-RM at Peking Union Medical College Hospital between January 2016 and December 2025 were retrospectively included. Clinical data were collected, and their clinical and genetic features were analyzed. The mean age at presentation was(16.7±9.7) years(range: 6-35 years), with males accounting for 66.7%(8/12). Patients presented with delayed motor development since early childhood, followed by a relatively stable disease course without significant progression over several years. Among 10 patients tested for serum creatine kinase, 4 had normal levels and 6 showed elevated levels. Electromyography performed in 9 patients indicated myogenic damage in both upper and lower limbs. Muscle biopsy in 6 patients revealed myopathic changes, including variation in muscle fiber size and fiber-type disproportion with predominance of type Ⅰ fibers. Pulmonary function tests in 5 patients demonstrated restrictive ventilatory defects. Overnight polysomnography in 6 patients revealed severe nocturnal hypoxemia. Genetic analysis showed that among the 12 patients, 9 patients had compound heterozygous mutations in the Patients with SELENON-RM usually develop symptoms in early life, presenting with motor developmental delay, scoliosis or rigid spine, and frequently with occult but significant respiratory involvement. Patients in this study appear to predominantly carry compound heterozygous variants, and exons 1 and 11 of the
2.Deubiquitinase USP13 alleviates doxorubicin-induced cardiotoxicity through promoting the autophagy-mediated degradation of STING.
Liming LIN ; Jibo HAN ; Diyun XU ; Zimin FANG ; Bozhi YE ; Jinfu QIAN ; Xue HAN ; Julian MIN ; Xiaohong LONG ; Gaojun WU ; Guang LIANG
Acta Pharmaceutica Sinica B 2025;15(5):2545-2558
Doxorubicin (Dox) is an anthracycline drug widely applied in various malignancies. However, the fatal cardiotoxicity induced by Dox limits its clinical application. Post-transcriptional protein modification via ubiquitination/deubiquitination in cardiomyocytes mediates the pathophysiological process in Dox-induced cardiotoxicity (DIC). In this study, we aimed to clarify the regulatory role and mechanism of a deubiquitinating enzyme, ubiquitin-specific peptidase 13 (USP13), in DIC. RNA-seq analysis and experimental examinations identified that cardiomyocyte-derived USP13 positively correlated with DIC. Mice with cardiac-specific deletion of USP13 were subjected to Dox modeling. Adeno-associated virus serotype 9 (AAV9) carrying cTNT promoter was constructed to overexpress USP13 in mouse heart tissues. Cardiomyocyte-specific knockout of USP13 exacerbated DIC, while its overexpression mitigated DIC in mice. Mechanistically, USP13 deubiquitinates the stimulator of interferon genes (STING) and promotes the autolysosome-related degradation of STING, subsequently alleviating cardiomyocyte inflammation and death. Our study suggests that USP13 serves a cardioprotective role in DIC and indicates USP13 as a potential therapeutic target for DIC treatment.
3.RBM14 enhances transcriptional activity of p23 regulating CXCL1 expression to induce lung cancer metastasis.
Wen ZHANG ; Yulin PENG ; Meirong ZHOU ; Lei QIAN ; Yilin CHE ; Junlin CHEN ; Wenhao ZHANG ; Chengjian HE ; Minghang QI ; Xiaohong SHU ; Manman TIAN ; Xiangge TIAN ; Yan TIAN ; Sa DENG ; Yan WANG ; Xiaokui HUO ; Zhenlong YU ; Xiaochi MA
Acta Pharmaceutica Sinica B 2025;15(6):3059-3072
Metastasis serves as an indicator of malignancy and is a biological characteristic of carcinomas. Epithelial-mesenchymal transition (EMT) plays a key role in the promotion of tumor invasion and metastasis and in the enhancement of tumor cell aggressiveness. Prostaglandin E synthase 3 (p23) is a cochaperone for heat shock protein 90 (HSP90). Our previous study showed that p23 is an HSP90-independent transcription factor in cancer-associated inflammation. The effect and mechanism of action of p23 on lung cancer metastasis are tested in this study. By utilizing cell models in vitro and mouse tail vein metastasis models in vivo, the results provide solid evidence that p23 is critical for promoting lung cancer metastases by regulating downstream CXCL1 expression. Rather than acting independently, p23 forms a complex with RNA-binding motif protein 14 (RBM14) to facilitate EMT progression in lung cancer. Therefore, our study provides evidence for the potential role of the RBM14-p23-CXCL1-EMT axis in the metastasis of lung cancer.
4.Study on the modeling method of rat model of coronary heart disease complicated with depression"double heart"disease
Fangge LU ; Yaxi LU ; Ge WU ; Ping YANG ; Qian WANG ; Yangyu PAN ; Yanna LUO ; Chengxiang WANG ; Pengyun KONG ; Liqiang YANG ; Xiaohong LI
Chinese Journal of Comparative Medicine 2025;35(7):11-24
Objective To observe the effects of four different modeling method on the hypothalamus-pituitary-adrenal(HPA)axis,blood rheology,platelet aggregation rate,and myocardial ischemia in rats,and to provide new ideas for the establishment of a rat model of"double heart"disease in line with clinical diagnosis and treatment characteristics.Methods Sixty-nine male Sprague-Dawley rats were divided randomly into a Control group(unstimulated),chronic unpredictable mild stimulation(CUMS)group,isoproterenol(ISO)group(intraperitoneal injection of ISO),high-fat diet(HFD)group(fed high-fat chow),and composite model(CUMS+ISO+HFD)group(n=12 rats in the Control and HFD groups;n=15 rats in the other three groups,respectively).Modeling procedures were carried out for a total of 8 weeks,with ISO injection started from week 6 of the experiment for a total of 3 weeks.At the end of modeling,rats in each group were subjected to absent-field and sugar-water preference behavioral tests.Electrocardiography(ECG)was performed to observe changes in ECG lead Ⅱ in each group.Serum levels of adrenocorticotropic hormone(ACTH),cortisol(Cor),corticosterone(CORT),endothelin-1(ET-1),and soluble intercellular adhesion molecule-1(sICAM-1)were detected by enzyme-linked immunosorbent assay.Myocardial histopathological changes were detected by hematoxylin/eosin(HE)staining.Serum total cholesterol(TC),triglycerides(TG),low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C)were measured using an enzyme labeling instrument.Whole-blood high-cut viscosity(200 V/S),whole-blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen were assessed using an automatic blood rheology analyzer.The maximum platelet aggregation rate(MAR)and average platelet aggregation rate(AAR)induced by arachidonic acid and adenosine diphosphate were detected using a whole-blood platelet aggregometer.Results Compared with the Control group,all four model groups had significantly lower absenteeism distance and number of entries into the central region in the absent-field test,and a lower sugar-water preference ratio(P<0.01).ECG revealed ST-segment elevation in the ISO and CUMS+ISO+HFD groups,tachycardia in the CUMS group,and mild ST-segment elevation in the HFD.Serum ACTH,Cor,CORT,ET-1,and sICAM-1 were all significantly elevated in the four model groups(P<0.01).HE staining showed that myocardial tissue was severely damaged in rats in the ISO and CUMS+ISO+HFD groups,with pathological changes such as localized fibrosis and inflammatory infiltration of the myocardium,while mild cardiomyocyte disarrangement and fracture was seen in the CUMS and HFD groups.Rats in the HFD group had increased serum TC and LDL(P<0.01)and decreased HDL contents(P<0.01).Compared with the Control group,whole-blood high-cut viscosity(200 V/S),whole-blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen were all increased in the CUMS,HFD,and CUMS+ISO+HFD groups(P<0.01,P<0.05),while whole blood high-cut viscosity(200 V/S),whole blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen levels were decreased in rats in the ISO group(P<0.01,P<0.05).MAR and AAR were significantly higher in rats in the CUMS,HFD,and CUMS+ISO+HFD groups(P<0.01),while the platelet aggregation rate was decreased in the ISO group compared with the Control group(P<0.01,P<0.05).Conclusions These result showed that the rat CUMS+ISO+HFD model better reflected the complexity of clinical double heart disease than the other three models.
5.Study on the modeling method of rat model of coronary heart disease complicated with depression"double heart"disease
Fangge LU ; Yaxi LU ; Ge WU ; Ping YANG ; Qian WANG ; Yangyu PAN ; Yanna LUO ; Chengxiang WANG ; Pengyun KONG ; Liqiang YANG ; Xiaohong LI
Chinese Journal of Comparative Medicine 2025;35(7):11-24
Objective To observe the effects of four different modeling method on the hypothalamus-pituitary-adrenal(HPA)axis,blood rheology,platelet aggregation rate,and myocardial ischemia in rats,and to provide new ideas for the establishment of a rat model of"double heart"disease in line with clinical diagnosis and treatment characteristics.Methods Sixty-nine male Sprague-Dawley rats were divided randomly into a Control group(unstimulated),chronic unpredictable mild stimulation(CUMS)group,isoproterenol(ISO)group(intraperitoneal injection of ISO),high-fat diet(HFD)group(fed high-fat chow),and composite model(CUMS+ISO+HFD)group(n=12 rats in the Control and HFD groups;n=15 rats in the other three groups,respectively).Modeling procedures were carried out for a total of 8 weeks,with ISO injection started from week 6 of the experiment for a total of 3 weeks.At the end of modeling,rats in each group were subjected to absent-field and sugar-water preference behavioral tests.Electrocardiography(ECG)was performed to observe changes in ECG lead Ⅱ in each group.Serum levels of adrenocorticotropic hormone(ACTH),cortisol(Cor),corticosterone(CORT),endothelin-1(ET-1),and soluble intercellular adhesion molecule-1(sICAM-1)were detected by enzyme-linked immunosorbent assay.Myocardial histopathological changes were detected by hematoxylin/eosin(HE)staining.Serum total cholesterol(TC),triglycerides(TG),low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C)were measured using an enzyme labeling instrument.Whole-blood high-cut viscosity(200 V/S),whole-blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen were assessed using an automatic blood rheology analyzer.The maximum platelet aggregation rate(MAR)and average platelet aggregation rate(AAR)induced by arachidonic acid and adenosine diphosphate were detected using a whole-blood platelet aggregometer.Results Compared with the Control group,all four model groups had significantly lower absenteeism distance and number of entries into the central region in the absent-field test,and a lower sugar-water preference ratio(P<0.01).ECG revealed ST-segment elevation in the ISO and CUMS+ISO+HFD groups,tachycardia in the CUMS group,and mild ST-segment elevation in the HFD.Serum ACTH,Cor,CORT,ET-1,and sICAM-1 were all significantly elevated in the four model groups(P<0.01).HE staining showed that myocardial tissue was severely damaged in rats in the ISO and CUMS+ISO+HFD groups,with pathological changes such as localized fibrosis and inflammatory infiltration of the myocardium,while mild cardiomyocyte disarrangement and fracture was seen in the CUMS and HFD groups.Rats in the HFD group had increased serum TC and LDL(P<0.01)and decreased HDL contents(P<0.01).Compared with the Control group,whole-blood high-cut viscosity(200 V/S),whole-blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen were all increased in the CUMS,HFD,and CUMS+ISO+HFD groups(P<0.01,P<0.05),while whole blood high-cut viscosity(200 V/S),whole blood low-cut viscosity(10 I/S),plasma viscosity,and fibrinogen levels were decreased in rats in the ISO group(P<0.01,P<0.05).MAR and AAR were significantly higher in rats in the CUMS,HFD,and CUMS+ISO+HFD groups(P<0.01),while the platelet aggregation rate was decreased in the ISO group compared with the Control group(P<0.01,P<0.05).Conclusions These result showed that the rat CUMS+ISO+HFD model better reflected the complexity of clinical double heart disease than the other three models.
6.Bibliographical cataloging for ancient TCM books
Hongtao LI ; Weina ZHANG ; Lin TONG ; Jingpeng DENG ; Qian ZHAO ; Honglei WANG ; Naiying LIU ; Mei SHI ; Qiang LIU ; Ying LIN ; Xiaohong ZHANG ; Lili FENG ; Mingrui ZHANG ; Yanqiu LUO ; Guangkun CHEN ; Yan DONG ; Bin LI ; Sihong LIU ; Bing LI ; Chen LI ; Meng LI ; Rui WANG ; He LU
International Journal of Traditional Chinese Medicine 2025;47(6):729-740
With reference to the Information and Documentation-Resource Description (GB/T 3792-2021) and Bibliographical Description for Ancient Chinese Books (GB/T 3792.7-2008) and other cataloging standards and rules, drawing on the practical experience of cataloging ancient TCM books, Bibliographical Cataloging for Ancient TCM Books was formulated. This standard specifies the entry items and their order of ancient TCM books, cataloging identifier, cataloging text, cataloging information source, and cataloging item details. The standard can provide standardized and unified guiding principles and methods for the work of ancient TCM books, and promote the sharing and utilization of ancient TCM books.
7.Prevalence of central obesity among the elderly with different body mass indexes in Xuhui District, Shanghai
Zhanyu JIANG ; Xiaolin QIAN ; Xiaohong ZHANG ; Zhenmei PU ; Jing ZHU ; Weiqi XU ; Chaowei FU ; Haiyan GU
Shanghai Journal of Preventive Medicine 2024;36(3):289-296
ObjectiveTo investigate the prevalence and influencing factors of overweight, obesity and central obesity among elderly residents in Xuhui District, and to analyze the epidemiological status of central obesity in elderly people with different body mass indexes. MethodsThe third round of health status and health service utilization monitoring data in Xuhui District was used. The information collected from questionnaire survey and physical examination were analyzed. SPSS 20.0 software was used for χ2 test, trend χ2 test and multinominal logistic regression analysis. Results5 096 survey subjects were included. The prevalence of overweight, general obesity, and central obesity in the residents aged 60 and above in Xuhui District were 34.3%, 6.5%, and 29.2%, respectively. There was gender difference in the rates of overweight, obesity, and central obesity among the residents. The overweight and central obesity rates in males were higher than those in females, while the obesity rate was lower than that in females (P<0.05). Multinominal logistic regression analysis showed that in comparison with the normal weight non-central obesity group drinking only at party (OR=1.729, 95%CI: 1.184‒2.525), and hypertension (OR=1.637, 95%CI: 1.305‒2.053), were highly associated with normal weight with central obesity. Aged 60‒ years (OR=1.589, 95%CI: 1.190‒2.120), aged 70‒ years (OR=1.763, 95%CI: 1.327‒2.342), male (OR=1.379, 95%CI: 1.134‒1.676), hypertension (OR=2.231, 95%CI: 1.878‒2.649), former smokers (OR=1.437, 95%CI: 1.027‒2.011), drinking at party only (OR=1.491, 95%CI: 1.107‒2.006), and drinking ≥3 times per week (OR=1.611, 95%CI: 1.116‒2.325), were highly associated with overweight combined with central obesity. Aged 60‒ years (OR=3.817, 95%CI: 2.251‒6.474), aged 70‒ years (OR=3.084, 95%CI: 1.838‒5.175), hypertension (OR=3.683, 95%CI: 2.753‒4.929), diabetes (OR=2.085, 95%CI: 1.511‒2.878), former smokers (OR=1.835, 95%CI: 1.043‒3.226), were highly associated with compound obesity. Central obesity was found in the elderly residents with different BMI categories, and the rate of central obesity increased with the increase of BMI grade. ConclusionThe prevalence of overweight, obesity and central obesity among the elderly aged 60 years and above in Xuhui District is not optimistic. Attention should be paid to the elderly under 80 years old who are with hypertension and/or diabetes, alcohol consumption, low educational level and not doing physical exercise. Especially for the central obesity population with normal BMI, measures should be taken to prevent and intervene the occurrence of obesity and related diseases.
8.Application research of an mHealth-based symptom clusters management program in the nursing of chronic heart failure patients
Menglu ZHAO ; Xiaohong LU ; Lihua CAO ; Fuhai LI ; Jing HAN ; Xin JIANG ; Weining CUI ; Qian ZHAO ; Wenzhong ZHANG
Chinese Journal of Nursing 2024;59(11):1294-1300
Objective This study aims to investigate the application of symptom group management using a mo-bile health platform in managing heart failure patients during convalescence.Methods The research involved pa-tients with chronic heart failure who were treated at a tertiary A hospital in Qingdao from June 2022 to December 2022.The experimental group consisted of 235 patients who were discharged after treatment in ward A,while the control group consisted of 235 patients who were discharged during the same period in ward B.The experimental group received an mHealth-based symptom clusters management program following routine continuous nursing and the control group was given routine continuous nursing after discharge.6 months after the intervention,the heart function status,self-care level,and quality of life were compared between 2 groups.Results The experimental group ultimately included 232 cases,while the control group ultimately included 225 cases.Furthermore,the cardiac functional status,level of self-care,and quality of life of both the experimental group and the control group showed improvement compared to the pre-intervention period(P<0.05).The experimental group exhibited significantly better cardiac function status compared to the control group,and the experimental group demonstrated higher levels of self-care confidence,and quality of life relative to the control group(P<0.05).Conclusion The utilization of a mobile medical platform can enhance the management of heart failure patients'symptom groups,resulting in im-proved disease management efficiency.This platform provides patients with a comprehensive self-management plan,ultimately enhancing their self-management abilities and overall outcomes.
9.Death caused by intracranial gas embolism after percutaneous vertebral kyphoplasty: a case report
Bingqian CHEN ; Libiao JI ; Yufeng QIAN ; Xiaohong QU ; Xiaowen FANG
Chinese Journal of Orthopaedics 2024;44(16):1114-1117
The patient, an 84-year-old man, was admitted to the hospital with "low back pain with limitation of movement for more than half a year". Admission examination: mild kyphotic deformity of the spine, significant tenderness and percussion pain in the lower back, bilateral lower limb muscle strength graded 5, normal skin sensation. Lumbar MRI and CT revealed a compressive fracture of the L 4 vertebra. Dual-energy X-ray absorptiometry (DEXA) indicated a bone mineral density T-score of -2.6, suggesting osteoporosis. Admission diagnosis: osteoporotic compressive fracture of the L 4 vertebra. The patient underwent thorough examinations to exclude surgical contraindications. On the fourth day of admission, the patient underwent percutaneous vertebroplasty of the L 4 vertebra. At the end of the operation, the patient became unresponsive, with a blood pressure drop to 94/63 mmHg and oxygen saturation falling to 80%. Cranial CT showed multiple punctate gas density shadows within the brain. Lumbar CT revealed gas accumulation in the soft tissue adjacent to the lumbar spinous processes, localized intraductal gas, and punctate gas density shadows within the vessels in both groin areas. The diagnosis was intracranial arterial gas embolism. The patient's condition deteriorated further, with loss of consciousness, neck stiffness, increased muscle tone of both lower limbs, and positive Babinski's sign on both sides. Symptomatic treatments included brain protection, maintaining cerebral perfusion, and improving collateral cerebral circulation, but the patient did not regain consciousness. The patient developed a pulmonary infection one month postoperatively and died three months postoperatively due to respiratory failure. This case highlights the potential risk of gas embolism during vertebroplasty. Measures to reduce such complications should be implemented, such as minimizing the duration of venous blood-air contact, pre-filling the cannula with saline to reduce the venous blood-air interface, and appropriately increasing venous pressure to reduce the risk of gas entry. It is recommended to use smaller diameter catheters. For patients with pre-existing cardiac conditions or elderly patients, preoperative cardiac Doppler ultrasound should be performed to exclude anatomical abnormalities such as patent foramen ovale.
10.Construction of the Whole Process Management Model of Hospice and Palliative Care Outpatient Clinic
Yaoxin ZENG ; Xiaohong NING ; Ying ZHENG ; Zhiyuan ZHANG ; Yiyou WANG ; Yu ZHANG ; Qian KANG
Acta Academiae Medicinae Sinicae 2024;46(2):210-216
Objective To construct a scientific and practical management model of the hospice and pal-liative care outpatient clinic and provide a reference for the operation and development of the outpatient clin-ic.Methods The basic framework of the whole process management model of hospice and palliative care outpa-tient clinic was determined preliminarily by literature analysis,qualitative interviews and experts group meet-ings.Two rounds of consultation were conducted among 18 experts in hospice and palliative care and medical-nursing combined outpatient service by the Delphi method.Results The questionnaire response rates of the two rounds of expert consultation were both 100%and the authority coefficients of the two rounds of expert consultation were 0.88 and 0.91,respectively.Finally,the whole process management model of hospice and palliative care out-patient clinic was constructed,which was composed of three first-level indicators including staff composition,work structure and effect evaluation,5 second-level indicators and 62 third-level indicators.Conclusion The construc-ted whole process management model is scientific,innovative and continuous,which can provide a reference for the operation and development of the hospice and palliative care outpatient clinic.

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