1.Spinal muscular atrophy with lower extremity predominance associated with BICD2 mutation: A case report
Journal of Apoplexy and Nervous Diseases 2026;43(1):76-80
Spinal muscular atrophy (SMA) is characterized by muscle atrophy and weakness caused by degeneration of the anterior horn cells of the spinal cord, and spinal muscular atrophy with lower extremity predominance (SMALED) accounts for less than 2% of all SMA cases.Due to the rarity of the disease and varying severities of its clinical phenotype, misdiagnosis or missed diagnosis is often observed in clinical practice. In this case, a male patient aged 19 years was admitted due to “weakness in both lower limbs for more than 2 years and aggravation for more than 2 months”. Neurophysical examination showed low muscle strength and muscle atrophy of lower limbs, with negative pathological signs or sensory disorders. Electromyography examination revealed neurogenic damage in both lower limbs, and the clinical and electrophysiological features of the patient were consistent with the features of SMALED. Genetic testing revealed BICD2 gene mutation, and the patient was diagnosed with SMALED2. There was no aggravation of clinical symptoms at follow-up half a year later. This case report aims to improve the understanding and diagnosis of this disease among clinicians.
2.Construction of Risk Prediction Model for Frequent Acute Exacerbations of Chronic Obstructive Pulmonary Disease Under Disease-syndrome Combination
Jing ZHOU ; Gang TENG ; Nianzhi ZHANG ; Yuanyuan WANG ; Qianqian ZHANG ; He HUANG ; Ling LIU ; Mei DONG ; Juan JI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):143-151
ObjectiveTo construct a risk prediction model for frequent acute exacerbations of chronic obstructive pulmonary disease (COPD) under disease-syndrome combination, thus providing decision support for precise clinical intervention. MethodsA total of 2 029 patients with acute exacerbations of COPD admitted to the First Affiliated Hospital of Anhui University of Chinese Medicine from January 2020 to August 2024 were retrospectively included. These patients were classified into groups of frequent acute exacerbations (≥2 times/year) and infrequent acute exacerbations (<2 times/year) according to the hospitalization times per year. Risk factors were screened by LASSO regression combined with logistic regression, and a nomogram model was constructed. The model performance was assessed based on the area under the curve (AUC), calibration curves, and decision curve analysis (DCA). ResultsThe differences in baseline characteristics between the frequent acute exacerbations group (1 196 cases) and infrequent acute exacerbations group (833 cases) were not statistically significant. LASSO regression combined with multivariate logistic regression screened the following independent risk factors: body mass index (BMI), hospitalization days, number of smoking years, place of residence, use of noninvasive ventilators, oxygen-demanding therapy, liver cirrhosis, use of systemic glucocorticosteroids, and traditional Chinese medicine syndrome (phlegm and stasis obstructing the lung). The nomogram model showed good discrimination and calibration in both the training set (AUC=0.748) and validation set (AUC=0.774). ConclusionThe risk prediction model for frequent acute exacerbations of COPD, integrating traditional Chinese medicine syndrome, constructed in this study has high accuracy. It can provide a scientific basis for early clinical identification of high-risk patients and individualized intervention.
3.Effects and mechanism of osthol on skin wound healing and angiogenesis in rats
Xiyan FEI ; Dan WANG ; Juan JIANG ; Xinfang HE ; Enjing ZHANG ; Shuqi FEI
China Pharmacy 2025;36(3):324-329
OBJECTIVE To investigate the effects of osthole (OST) on skin wound healing and angiogenesis in rats by regulating the sonic hedgehog (SHH) signaling pathway. METHODS Full-layer skin defect wound model rats were established and then randomly separated into Model group, OST low-dose, medium-dose and high-dose groups (OST-L group, OST-M group, OST-H group, 20, 30, 40 mg/kg OST), high-dose OST+SHH inhibitor cyclopamide group (OST-H+cyclopamide group, 40 mg/kg OST+10 mg/kg cyclopamide), with 12 rats in each group. Another 12 rats were selected as the control group. The wound healing of rats on 1, 7 and 14 days of administration was observed, and the wound healing rate of rats in each group was measured. The pathological changes and collagen deposition in rat wound tissue were observed; the levels of angiopoietin-1 (Ang-1) and basic fibroblast growth factor (bFGF) in wound tissue of rats were detected; the relative expressions of vascular endothelial growth factor A (VEGFA) and vascular endothelial growth factor receptor-2 (VEGFR-2) mRNA were also detected in wound tissue of rats; the protein expressions of VEGFA, VEGFR-2, SHH and glioma-associated oncogene homolog-1 (GLI1) were determined in wound tissue of rats. RESULTS Compared with Model group, the healing rate of skin wound, relative expression of collagen protein, the levels of Ang-1 and bFGF, the mRNA and protein expressions of VEGFA and VEGFR-2, and the protein expressions of SHH and GLI1 were all significantly increased in OST-M and OST-H groups (P<0.05). The wound tissue underwent significant re- epithelialization, with reduced inflammatory cell infiltration and granulation tissue edema, and an increase in the number of new blood vessels. SHH inhibitor cycloparamide weakened the promoting effects of OST on skin wound healing and angiogenesis in rats. CONCLUSIONS OST may promote skin wound healing and angiogenesis in rats by activating the SHH signaling pathway.
4.Targeted Therapy for Rheumatoid Arthritis in the New Era
Medical Journal of Peking Union Medical College Hospital 2025;16(1):19-27
Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease. The clinical manifestation of RA involves various organs and systems both inside and outside the joints, and often exhibits strong clinical heterogeneity with unclear pathogenesis. Ineffective drug treatment for severe arthritis can result in physical disability and severely decreased quality of life. In recent years, targeted therapy for RA has become a hot research topic and has made new breakthroughs. Targeted treatments for RA mainly include two categories: biologic and targeted synthetic disease-modifying antirheumatic drugs. This article aims to elaborate on the current research status and progress of these drugs, with the hope of providing insights for clinicians to better guide personalized treatment for RA patients.
5.Association between behavioral lifestyle and incidence of cardiovascular disease in elderly people
Juan CHEN ; Xiaofeng MA ; Hong WANG
Journal of Public Health and Preventive Medicine 2025;36(1):152-155
Objective To investigate the lifestyle and cardiovascular disease in the elderly and analyze their association. Methods A simple random sampling method was used to select the elderly aged 60 years and above in a community of Xining from September 2022 to September 2023 as the study subjects. General demographic characteristics, prevalence of cardiovascular disease, living habits and activity status were collected by questionnaire. Demographic characteristics and life behavior habits were compared between the diseased and non-diseased groups, and multivariate logistic regression was used to analyze the influencing factors of cardiovascular disease in the elderly. Results A total of 784 subjects, 259 (33.04%) suffered from cardiovascular disease, with coronary heart disease and hypertension being the most common. In terms of disease risk, males were 1.378 times higher than females, non-income groups were 1.394 times higher than income groups, receiving health education/popular science < 1 time/month groups were 1.533 times higher than ≥ 2 times/month groups, combined diabetes or obesity groups were 1.490 times and 1.470 times higher than non-diabetes or obesity groups, salty fresh taste groups were 1.690 times higher than light taste groups, fresh fruit intake frequency ≤ 3 times/week groups were 1.492 times higher than >7 times/week groups, smoking ≥ 30 cigarettes/month groups were 2.257 times higher than non-smoking groups, drinking ≥ 2 liquors or 500 ml beer/day groups were 1.569 times higher than non-drinking groups, irregular physical examination habits groups were 1.619 times higher than regular physical examination habits groups, aerobic exercise did not reach the standard groups were 1.454 times higher than the standard groups. Conclusion Lifestyle is associated with cardiovascular disease in the elderly. It is important to carry out targeted health education and advocate healthy behavior lifestyle to prevent and treat cardiovascular disease.
6.Advances in inflammatory response mechanism and anti-inflammatory treatment with dry eye disease
Pingping WANG ; Fan JIANG ; Simin LI ; Dongxia YAN ; Juan CHENG
International Eye Science 2025;25(3):440-445
In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.
7.Advances in inflammatory response mechanism and anti-inflammatory treatment with dry eye disease
Pingping WANG ; Fan JIANG ; Simin LI ; Dongxia YAN ; Juan CHENG
International Eye Science 2025;25(3):440-445
In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.
8.Effect Analysis of Different Interventions to Improve Neuroinflammation in The Treatment of Alzheimer’s Disease
Jiang-Hui SHAN ; Chao-Yang CHU ; Shi-Yu CHEN ; Zhi-Cheng LIN ; Yu-Yu ZHOU ; Tian-Yuan FANG ; Chu-Xia ZHANG ; Biao XIAO ; Kai XIE ; Qing-Juan WANG ; Zhi-Tao LIU ; Li-Ping LI
Progress in Biochemistry and Biophysics 2025;52(2):310-333
Alzheimer’s disease (AD) is a central neurodegenerative disease characterized by progressive cognitive decline and memory impairment in clinical. Currently, there are no effective treatments for AD. In recent years, a variety of therapeutic approaches from different perspectives have been explored to treat AD. Although the drug therapies targeted at the clearance of amyloid β-protein (Aβ) had made a breakthrough in clinical trials, there were associated with adverse events. Neuroinflammation plays a crucial role in the onset and progression of AD. Continuous neuroinflammatory was considered to be the third major pathological feature of AD, which could promote the formation of extracellular amyloid plaques and intracellular neurofibrillary tangles. At the same time, these toxic substances could accelerate the development of neuroinflammation, form a vicious cycle, and exacerbate disease progression. Reducing neuroinflammation could break the feedback loop pattern between neuroinflammation, Aβ plaque deposition and Tau tangles, which might be an effective therapeutic strategy for treating AD. Traditional Chinese herbs such as Polygonum multiflorum and Curcuma were utilized in the treatment of AD due to their ability to mitigate neuroinflammation. Non-steroidal anti-inflammatory drugs such as ibuprofen and indomethacin had been shown to reduce the level of inflammasomes in the body, and taking these drugs was associated with a low incidence of AD. Biosynthetic nanomaterials loaded with oxytocin were demonstrated to have the capability to anti-inflammatory and penetrate the blood-brain barrier effectively, and they played an anti-inflammatory role via sustained-releasing oxytocin in the brain. Transplantation of mesenchymal stem cells could reduce neuroinflammation and inhibit the activation of microglia. The secretion of mesenchymal stem cells could not only improve neuroinflammation, but also exert a multi-target comprehensive therapeutic effect, making it potentially more suitable for the treatment of AD. Enhancing the level of TREM2 in microglial cells using gene editing technologies, or application of TREM2 antibodies such as Ab-T1, hT2AB could improve microglial cell function and reduce the level of neuroinflammation, which might be a potential treatment for AD. Probiotic therapy, fecal flora transplantation, antibiotic therapy, and dietary intervention could reshape the composition of the gut microbiota and alleviate neuroinflammation through the gut-brain axis. However, the drugs of sodium oligomannose remain controversial. Both exercise intervention and electromagnetic intervention had the potential to attenuate neuroinflammation, thereby delaying AD process. This article focuses on the role of drug therapy, gene therapy, stem cell therapy, gut microbiota therapy, exercise intervention, and brain stimulation in improving neuroinflammation in recent years, aiming to provide a novel insight for the treatment of AD by intervening neuroinflammation in the future.
9.Predictive value of bladder deformation index for upper urinary tract damage in neurogenic bladder patients
Ran CHANG ; Huafang JING ; Yi GAO ; Siyu ZHANG ; Yue WANG ; Juan WU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(2):231-234
ObjectiveTo assess the predictive value of the bladder deformation index (BDI) in determining upper urinary tract (UUT) damage among patients with neurogenic bladder (NB). MethodsClinical data of 132 NB patients admitted to Beijing Bo'ai Hospital from January, 2015 to December, 2018 were retrospectively analyzed. Patients were divided into UUT damage group and normal UUT group according to the presence or absence of hydronephrosis. The demographics, biochemical parameters and video-urodynamics (VUDS) findings were collected, and BDI was calculated. Receiver operating characteristic (ROC) curves were utilized to evaluate the predictive capability. ResultsThere were 54 patients in UUT damage group and 33 in normal UUT group. The course of disease, creatinine level and BDI were siginificantly different between two groups (P < 0.05), while the area under the curve were 0.686, 0.836 and 0.928, respectively. ConclusionCourse of disease, creatinine level and BDI are associated with UUT damage in NB patients, and BDI demonstrates the highest sensitivity and specificity, which may play a role in diagnosis of UUT damage.
10.Decision-making behavior in patients with depressive disorder and its relationship with depressive and anxiety symptoms
Yuxiang WANG ; Luoya ZHANG ; Maomao ZHANG ; Juan DENG ; Yanjie PENG ; Xiaotong CHENG ; Kezhi LIU ; Wei LEI ; Jing CHEN
Sichuan Mental Health 2025;38(1):22-27
BackgroundPatients with depressive disorder often exhibit impaired decision-making functions. However, the relationship between decision-making abilities and depressive and anxiety symptoms in these patients remains unclear. ObjectiveTo explore the characteristics of decision-making behavior in patients with depressive disorder, and to analyze its relationship with clinical symptoms. MethodsA total of 48 patients diagnosed with depressive disorder according to the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) were recruited from the Department of Psychosomatic Medicine of the Affiliated Hospital of Southwest Medical University from October 2020 to May 2023. Concurrently, 52 healthy individuals matched for age and gender were recruited from Luzhou as the control group. Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI) were used for assessment, and decision-making behavior was evaluated using Probabilistic Reversal Learning (PRL) task. Indicators assessed included the number of trials to criterion, perseverative errors, win-stay rate and lose-shift rate. Spearman correlation analysis was used to assess the correlation between BDI and BAI scores and PRL task indicators. ResultsThe depression group showed a significantly higher lose-shift rate compared with the control group (t=3.684, P<0.01). There were no statistically significant differences between two groups in trials to criterion, perseverative errors and win-stay rate (t=0.329, 0.132, 0.609, P>0.05). In depression group, BDI and BAI scores were positively correlated with the win-stay rate(r=0.450, 0.398, P<0.01). ConclusionPatients with depressive disorder are more likely to change their decision-making strategies following negative outcomes. Furthermore, the severity of depressive and anxiety symptoms is associated with a greater propensity to maintain existing decisions after receiving positive feedback. [Funded by 2019 Joint Project of Luzhou Science and Technology Bureau-Southwest Medical University (number, 2019LZXNYDJ39]


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