1.Clinical features and ATP7B gene testing results of hepatolenticular degeneration: An analysis of four cases
Journal of Apoplexy and Nervous Diseases 2026;43(2):135-139
Hepatolenticular degeneration (HLD) is an autosomal recessive genetic disorder characterized by copper metabolism impairment, and it is one of the few treatable neurogenetic diseases. A retrospective analysis was performed for the clinical data of four patients with HLD who attended Beijing Ditan Hospital, Capital Medical University, from November 2023 to October 2024, and the genetic testing results of three patients were analyzed, along with a literature review. Among the four patients, there was one female patient and three male patients. All patients had the initial symptoms of dysarthria and limb tremors, and physical examination showed positive K-F rings, normal liver enzyme levels, a reduction in serum ceruloplasmin, and an increase in 24-hour urinary copper excretion. Three patients underwent ATP7B genetic testing, among whom two had compound heterozygous mutations, and one had a heterozygous mutation. In addition, two patients underwent cranial magnetic resonance imaging, and the results showed symmetrical long T1 and long T2 signals. All four patients received copper-chelating therapy and achieved a good outcome. This article reports the diagnosis and treatment of four patients with HLD and identifies a case of HLD resulting from a rare heterozygous mutation site, thereby expanding the variation spectrum of the ATP7B gene.
2.Analysis and prevention strategies for abnormal blood waste events in blood collection and supply processes
Kaiqiang LIU ; Huayou DAI ; Minyu HUA ; Tingting HU ; Weifei QIN ; Jixia ZHOU ; Xiaojing LIU ; Huaying CAI ; Chenghui LUO ; Shoubing ZHU ; Yanhua SHI ; Xi DENG ; Xia HUANG
Chinese Journal of Blood Transfusion 2026;39(8):1061-1066
Objective: To analyze the characteristics and key risk factors of abnormal blood disposal throughout the 2024-2025 blood collection and supply process based on nationwide multi-site monitoring data, develop a comprehensive prevention and control strategy across the entire chain, reduce preventable blood waste, and ensure clinical blood safety. Methods: According to the Guidelines for Haemovigilance (T/CSBT 001-2026), we extracted 74 cases of abnormal blood disposal events reported by the China Blood Transfusion Association′s Blood Safety Monitoring System from January 1 2024, to December 31 2025, and conducted descriptive statistical analysis on the distribution of events, types of deviations, root causes, and classifications of disposal manifestations. Results: A total of 664 adverse events related to blood collection and supply were reported over two years, with 74 cases involving discarded abnormal blood units, accounting for 11.1% of the total. Among these, blood component preparation (40.5%) and blood collection (37.8%) remained traditional high-risk stages. The proportion of blood waste occurring during storage, distribution, and transportation increased from 7.7% in 2024 to 34.3% in 2025. Deviations from standard operating procedures (SOP) by personnel were the primary cause, accounting for 74.3% of cases. Discarded blood units were categorized into four types: compromised closed blood bag systems (40 cases), mainly due to inadequate heat sealing, physical damage, or dropped bags; blood out of the cold chain (12 cases), primarily resulting from blood being left at work sites; imbalanced proportion of preservation solution (10 cases), mostly caused by blood collection volumes exceeding the standard capacity of blood bags; and other causes (12 cases). Conclusion: Human operational errors are the core cause of abnormal blood waste. The collection and preparation stages have long been at high-risk, and the risks in the storage and transportation stages have been increasing year by year. We should focus on standardizing personnel management, improving specialized operation norms such as heat sealing, transportation, and storage, establishing a full-process intelligent cold chain monitoring and multi-node visual verification mechanism, and systematically reducing the occurrence rate of abnormal blood waste through a closed-loop quality intervention system, thereby improving the utilization efficiency of voluntary blood donation resources.
3.Effect of proprioceptive stimulation combined with shoulder strength training on cervical function in healthy young males
Yixiong LIANG ; Qiuchen HUANG ; Lili YU ; Miao YE ; Jianjun LI
Chinese Journal of Rehabilitation Theory and Practice 2026;32(10):1204-1215
ObjectiveTo investigate the effect of proprioceptive stimulation combined with shoulder strength training on cervical muscle morphology, vertebral artery hemodynamics, proprioception and motor function in healthy young men. MethodsThirty healthy young men recruited from Beijing Bo'ai Hospital between January, 2022 and June, 2024 were randomly divided into a proprioceptive stimulation (PS) group, a strength training (ST) group and a combined training (CT) group, with ten participants in each group. PS group received proprioceptive stimulation using suspension vibration, ST group received isometric contraction of the right shoulder joint in six directions, and CT group received both interventions concurrently, for four weeks. Before and after intervention, the cross-sectional area (CSA) of the right cervical multifidus, the end diastolic velocity (EDV) and peak systolic velocity (PSV) of the vertebral artery, cervical range of motion (ROM), isometric peak torque (IPT) and cervical joint position error (CJPE) were measured. ResultsAll 30 subjects completed the study, and no serious adverse events were reported. The time-by-group interaction in CSA was significant (F = 10.183, P = 0.001, partial η² = 0.430); CSA was higher in CT group than in PS group and ST group (P < 0.05). The time-by-group interactions in EDV and PSV were significant (F > 4.036, P < 0.05, partial η² > 0.230); PSV was significantly higher in CT group than in PS group and ST group (P < 0.001). The time-by-group interaction in extension ROM was significant (F = 54.277, P < 0.001, partial η² = 0.801); extension ROM was significantly higher in CT group than in PS group and ST group (P < 0.001). The time-by-group interactions in flexion, extension and lateral flexion IPT were significant (F > 14.251, P < 0.001; partial η² > 0.514); flexion IPT was higher in CT group than in PS group and ST group (P < 0.05). ConclusionIn healthy young men, proprioceptive stimulation combined with shoulder strength training can improve neck muscle strength, blood flow and motor function.
4.Surveillance data of adverse events following immunization with measles containing vaccines after adjusting the immunization strategy in Zibo City,Shandong Province
Qinqin XYU ; Zhuang MIAO ; Zhenshui HUANG
Journal of Public Health and Preventive Medicine 2025;36(1):49-52
Objective To compare and analyze the epidemiological characteristics of the adverse events following immunization (AEFI) with measles containing vaccine (MCV) in Zibo City from 2018-2022, and to provide reference data for evaluating the safety of the immunization strategy adjustment. Methods AEFI surveillance data related to MCV in Zibo City from 2018 to 2022 were collected from the China Disease Prevention and Control Information System Immunization Planning System and Shandong Provincial Vaccination Information System. The AEFI reports and epidemic characteristics after adjusting the immunization strategy about MCV were compared. Results Before adjusting immunization strategy of MCV in Zibo City (January 1, 2018 to May 31, 2020), 114 cases of AEFI were reported in the first dose of measles and rubella combined attenuated live vaccine (MR), with a reported incidence rate of 131.50/100 000. After adjusting the immunization strategy (June 1, 2020- December 31, 2022), 156 cases of AEFI were reported in the first dose of MMR, with a reported incidence of 162.97/100,000. There was no statistically significant difference in the reported incidence of AEFI (χ2=3.049, P=0.081). AEFI cases were mainly characterized by general reactions, and the reported incidence rate of MR (88.82/100,000) was lower than that of MMR (137.90/100,000) (χ2=9.576, P=0.002). Their most common clinical manifestation was fever, with 71 cases reported (81.90/100 000) and 114 cases reported (119.10/100 000), respectively. The reported incidence of abnormal reactions in MR (42.68/100 000) was higher than that in MMR (22.98/100,000) (χ2=5.458, P=0.019). Among them, allergic rash was the most common, with 16 and 11 cases reported, respectively, and the reported incidence rates were 18.46/100 000 and 11.49/100 000, respectively. The proportion of reported cases in the age group ≥ 1 year old was higher in MMR than in MR (χ2=41.089, P<0.001). The proportion of reported cases in the first quarter was higher in MR than in MMR (29.82%, 17.95%), while the proportion in the third quarter was higher in MMR than in MR (34.64%, 17.54%) (χ2=14.197, P=0.003). Conclusion After adjusting the MCV immunization strategy in Zibo City, the report on AEFI is within the expected range, and no adverse changes have been found in the epidemic characteristics of MCV related AEFI.
5.Impact of donor characteristics on red blood cell quality and transfusion outcomes
Peng LI ; Kaiqiang LIU ; Mingming QIAO ; Xia YANG ; Shenglan WANG ; Xia HUANG
Chinese Journal of Blood Transfusion 2025;38(12):1786-1793
Objective: To systematically analyzes the impact of blood donor characteristics on red blood cell (RBC) quality and transfusion outcomes, and to provide a scientific basis for optimizing donor selection criteria and developing personalized transfusion strategies. Methods: A literature search was conducted across electronic databases including CNKI, VIP, Wanfang Data, PubMed, and Embase using combinations of keywords such as "donor characteristics", "blood storage lesion", "blood quality", and "transfusion outcomes" for summary and analysis. Results: Factors associated with the blood donor characteristics including demographic characteristics (sex, age, body mass index), lifestyle habits (smoking, alcohol consumption, exercise), and dietary or pharmacological exposures significantly influence blood storage stability and transfusion efficacy by modulating erythrocyte metabolism, oxidative stress levels, and immune properties. Conclusion: The complexity and diversity of the blood donor characteristics are associated with blood quality and transfusion outcomes. Future efforts should focus on refining donor selection criteria and establishing personalized transfusion strategies to enhance blood product quality and improve patient outcomes.
6.Interpretation review of the 2024 consensus on Exercise Therapy for Chronic Symptomatic Peripheral Artery Disease
Xue BAI ; Xiuni GAN ; Xiang AI ; Shuang FENG ; Miao HUANG
Chongqing Medicine 2025;54(3):731-737
In February 2024,the European Society of Cardiology(ESC)Working Group on Aortic and Peripheral Vascular Diseases,in collaboration with the European Society for Vascular Medicine(ESVM)and the European Society for Vascular Surgery(ESVS),published the Consensus on Exercise Therapy for Chronic Symptomatic Peripheral Artery Disease.This document provides evidence-based recommendations for estab-lishing comprehensive exercise programs,offering optimal therapeutic strategies for symptomatic chronic pe-ripheral artery disease(PAD)patients.Specifically,it proposes different exercise training regimens.This re-view interprets the consensus core components to inform evidence-based exercise therapy recommendations for PAD management in China.
7.FDFT1 inhibits macrophage M1 polarization and promotes colorectal cancer progression
Yuan GAO ; Yulan HUANG ; Kun ZHAO ; Rongchen SHI ; Hongming MIAO
Journal of Army Medical University 2025;47(3):205-215
Objective To screen the targets related to the metabolic enzymes involved in the cholesterol synthesis pathway that inhibits the polarization of macrophages towards M1 phenotype,and verify the intervention effects and underlying mechanisms in colorectal cancer cells.Methods Mouse colorectal cancer MC38 cells were divided into control group(si-NC)and experimental groups(the expression of enzymes in cholesterol synthesis pathway was interfered with siRNA for corresponding targets).RT-qPCR was used to detect the mRNA levels of corresponding targets in MC38 cells after transfection.After peritoneal macrophages were extracted from male C57BL/6 mice(6 weeks old,weighing 13~18 g),the macrophages were then treated with the conditioned media of MC38 cells transfected with different siRNAs for 48 h.RT-qPCR was employed to detect the mRNA levels of IL-1β,IL-6 and TNF-α in the macrophages so as to evaluate the effect of the culture media on the M1 polarization.MC38 cells were divided into control groups(OE-NC and sh-NC),farnesyl-diphosphate farnesyltransferase 1(FDFT1)overexpression group(OE-FDFT1)and FDFT1 knockdown group(sh-FDFT1).RT-qPCR was applied to detect the mRNA expression of FDFT1,and Western blotting was conducted to measure the protein level of FDFT1.C57BL/6 mice were subjected randomly to construct a subcutaneous tumor-bearing model and a model of intraperitoneal metastatic tumor(n=5)respectively.The growth of tumor mass was then measured.Flow cytometry was used to observe the proliferation and apoptosis of MC38 cells,and Trans well assay to detect migration ability of MC38 cells.Five C57BL/6 macrophage-depleted mice(established with injection of clodronate liposome suspension through tail vein)received intraperitoneal implantation to construct a metastasis model,and then the obtained tumor masses were then weighted.Results Compared with MC38 cells after si-NC transfection,the mRNA levels of corresponding targets in MC38 cells in the experimental groups were significantly reduced(P<0.05).Significant increases were found in the mRNA levels of IL-1β,IL-6 and TNF-α of the macrophages with FDFT1 interference than the control cells(P<0.05).There were no statistical differences in the proliferation,apoptosis and migration of MC38 cells in the control group(OE-NC and sh-NC)and the cells of the FDFT1 overexpression group and FDFT1 knockdown group(P>0.05).In both the subcutaneous tumor-bearing model and the model of intraperitoneal metastatic tumor,the mass weight was significantly heavier in the OE-FDFT1 group than the OE-NC group(P<0.01),and was notably smaller in the sh-FDFT1 group than the sh-NC group(P<0.01).For the macrophage-depleted mouse tumor model,no remarkable change was observed in the tumor weight between the OE-FDFT1 group and the OE-NC group as well as the sh-FDFT1 group and the sh-NC group.Conclusion FDFT1,the metabolic enzyme in the cholesterol synthesis pathway of colorectal cancer tumor cells,is a potential target for tumor immunotherapy targeting macrophages,which promotes tumor progression by regulating macrophages.
8.The correlation between TNF- α 308 gene loci polymorphism and febrile seizures in children
Renjian WANG ; Yujuan HUANG ; Miao XU ; Jian LIU ; Tingting CHEN ; Xiuhe XU ; Lei SHEN
International Journal of Pediatrics 2025;52(4):274-278
Objective:To analyze the distribution of tumor necrosis factor-alpha(TNF-α)308 gene loci polymorphism in children with febrile seizures(FS)and to explore the correlation between TNF-α 308 gene polymorphisms and FS in children.Methods:A total of 320 children diagnosed with FS in the Department of Emergency,Shanghai Children's Hospital from September 1st,2020 to June 30th,2021 were enrolled as the study subjects,which were divided into simple febrile seizures(SFS)group(232 cases)and complex febrile seizures(CFS)group(88 cases)based on their clinical characteristics,and the clinical characteristics and laboratory indexes of the two groups were compared. Children with no history of convulsions were selected as the control group(160 cases). The high-resolution melting and gene sequencing technology were used to analyze the polymorphism of TNF-α 308 gene in each group and the distribution of different gene types and allele frequencies among the groups was compared. A multivariate Logistic regression model was constructed to analyze the relationship between TNF-α 308 gene polymorphism and FS.Results:The age,mean corpuscular volume,mean corpuscular hemoglobin and platelet distribution width of the CFS group were significantly higher than those in the SFS group,and the difference was statistically significant(all P<0.05).There was no significant difference in gender distribution,family history of FS,history of FS,body temperature at time of convulsions,WBC,Hb,CRP and PLT between the two groups(all P>0.05).The genotype frequency distribution of TNF-α 308 polymorphism in the three groups was in line with the Hardy-Weinberg equilibrium( P>0.05).The AA genotype of TNF-α 308 locus was not detected in the study.Compared with the control group[17 cases(10.6%)],the distribution proportion of GA genotype in the CFS group[22cases(25.0%)]and the SFS group[52cases(22.4%)]was increased,and the difference was statistically significant( χ2=11.126, P=0.004);Compared with the control group[17 frequencies(5.3%)],the frequency distribution proportion of allele A in the CFS group[22 frequencies(12.5%)]and SFS group[52 frequencies(11.2%)]was also increased,and the difference was statistically significant( χ2=9.960, P=0.007). Adding control factors such as gender,age,family history of FS,body temperature at time of convulsions and blood routine markers,the multivariate Logistic regression model was constructed to show that there was no statistically significant association between TNF-α 308 genotype and CFS in children( OR=1.805,95% CI:0.926~3.519, P=0.083). Conclusion:In this study,there was no significant correlation between TNF-α 308 gene loci polymorphism and CFS in children.
9.Relationship between serum KNG1 and TIMP3 levels and coronary artery lesions in children with Kawasaki disease at the acute phase
Miao ZHANG ; Jun YANG ; Meizi HUANG
International Journal of Laboratory Medicine 2025;46(17):2110-2114
Objective To investigate the relationship between serum kininogen-1(KNG1)and tissue inhib-itor of metalloproteinases-3(TIMP3)levels and coronary artery lesions(CAL)in children with Kawasaki dis-ease(KD)at the acute phase.Methods A total of 132 children with KD at the acute phase admitted to the hospital from October 2020 to February 2024 were selected as the KD group,and were divided into CAL group(66 cases)and non CAL group(66 cases)according to whether they were combined with CAL.In addition,66 healthy children during the same period were selected as the control group.Serum KNG1 and TIMP3 levels were measured using enzyme-linked immunosorbent assay.A multivariate unconditional Logistic regression model with CAL as the dependent variable was established to identify independent factors influencing CAL in children with KD at the acute phase.Receiver operating characteristic(ROC)curve was plotted to evaluate the predictive value of serum N-terminal pro-brain natriuretic peptide(NT-proBNP),KNG1,and TIMP3 levels for CAL in children with KD at the acute phase.Results Compared to the control group,serum KNG1 level was elevated in the KD group(P<0.05),and TIMP3 level was reduced(P<0.05).In the CAL group,serum KNG1 level was higher(P<0.05),and TIMP3 level was lower compared to the non CAL group(P<0.05).Independent risk factors for CAL in children with KD at the acute phase included immunoglobulin resistance(OR=5.618,95%CI:1.203-26.248),increased NT-proBNP level(OR=1.003,95%CI:1.000-1.005),and increased KNG1 level(OR=1.648,95%CI:1.251-2.173),while increased TIMP3 level was identified as an independent protective factor(OR=0.966,95%CI:0.949-0.983,P<0.05).The combination of serum NT-proBNP,KNG1,and TIMP3 levels yielded an area under the curve of 0.930 for predicting CAL in children with KD at the acute phase,which was larger than 0.785,0.801,0.792 of NT-proBNP,KNG1,and TIMP3 a-lone(P<0.05).Conclusion increased level of serum KNG1 and decreased level of TIMP3 are independently associated with the occurrence of CAL in children with KD at the acute phase.The combined prediction of ser-um NT-proBNP,KNG1,and TIMP3 levels has high value in predicting CAL in children with KD at the acute phase.
10.Clinical study on the combination of Jianpi Bushen Jiedu Prescription with 5-fluorouracil-based chemotherapy and targeted therapy for the treatment of advanced colorectal cancer
Yuying HUANG ; Juan CHEN ; Tao GONG ; Miao MA ; Yanhua ZHAO ; Zihan LIN ; Haina DU ; Xiaokang TIAN ; Mingzhi FANG ; Min LI
International Journal of Traditional Chinese Medicine 2025;47(8):1059-1065
Objective:To observe the clinical efficacy and safety of Jianpi Bushen Jiedu Prescription combined with 5-fluorouracil (5-FU)-based chemotherapy and targeted therapy for the treatment of advanced colorectal cancer patients with liver and kidney yin deficiency combined with spleen deficiency pattern.Methods:A randomized controlled trial was conducted. A total of 72 hospitalized patients with advanced colorectal cancer treated at the Department of Oncology, Nanjing Hospital of Traditional Chinese Medicine Affiliated to Nanjing University of Chinese Medicine from October 2022 to January 2024 were enrolled as study subjects. Using a random number table method, they were allocated into two groups, with 36 patients in each group. The control group received the mFOLFOX6/FOLFIRI combined with bevacizumab regimen, while the treatment group was administered additional oral Jianpi Bushen Jiedu Prescription on the basis of the control group. Two weeks was a cycle in both groups, with a total of 6 cycles of treatment. Serum levels of carcinoembryonic antigen (CEA), carbohydrate antigen 199 (CA199), and carbohydrate antigen 724 (CA724) were detected using electrochemiluminescence; the Karnofsky Performance Status (KPS) scale was utilized to evaluate patients' functional status; vital signs were continuously monitored, and adverse reactions were recorded. The short-term efficacy and TCM syndrome efficacy of patients were evaluated.Results:The treatment group demonstrated higher objective response rate (ORR) [31.25% (10/32) vs. 21.88% (7/32), χ2=0.72] and disease control rate (DCR) [84.38% (27/32) vs. 71.88% (23/32), χ2=1.46] compared to the control group, without statistical significance ( P>0.05). Post-treatment levels of CEA [4.09 (3.31,8.57) μg/L vs. 10.07 (4.55,22.35) μg/L, Z=-2.10] and CA72-4 [4.54 (2.04,10.99) mU/L vs. 9.48 (4.34,18.95) mU/L, Z=-2.52] in the treatment group were significantly lower than those in the control group ( P<0.05). The total effective rate of TCM syndrome was significantly higher in the treatment group [78.13% (25/32)] compared with the control group [50.00% (16/32)], with statistical significance ( χ2=5.50, P=0.019). Post-treatment KPS scores in the treatment group [80.0 (80.0, 80.0) vs. 70.0 (62.5, 80.0), Z=-2.76] were significantly higher compared with the control group ( P<0.01). During the treatment period, the treatment group showed statistical significance compared with the control group in the incidence of hemoglobin decrease ( χ2=4.66), leukopenia decrease ( χ2=4.27), and peripheral neuropathy ( χ2=3.93), with statistical significance ( P<0.05). Conclusion:The addition of Jianpi Bushen Jiedu Prescription to 5-FU-based chemotherapy combined with targeted therapy demonstrates significant clinical benefits in advanced colorectal cancer patients, including reducing tumor marker levels, alleviating clinical symptoms, improving quality of life, and mitigating treatment-related toxicities, with a good safety.


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