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.Clinical Characteristics,Risk Factors,and Development and Evaluation of a Prediction Model for Pressure Injury in Patients With Severe Neurological Diseases
Mingya YAO ; Xiaoqing CHEN ; Kejing HUANG ; Aimei MIAO
Journal of Sichuan University (Medical Sciences) 2025;56(3):858-863
Objective To investigate the clinical characteristics and influencing factors of pressure injury in patients with severe neurological diseases and to construct and evaluate a predictive model for it.Methods A retrospective research method was adopted to collect 250 patients with severe neuropathy admitted to the First Affiliated Hospital of Wenzhou Medical University from April 2020 to April 2024,and their clinical characteristics were collected.The patients were then divided into a pressure injury group(n=58)and a non-pressure injury group(n=192)based on whether they development pressure injury after treatment.Baseline data on patient coma or lethargy status,primary diagnosis requiring neurocritical care admission,and Acute Physiology and Chronic Health Evaluation(APACHE)Ⅱscores were collected.The area under the curve(AUC)of the receiver operating characteristic(ROC)curves for acute cerebrovascular disease,coma or lethargy status,and APACHE Ⅱ scores of the subjects was compared.Results Among the 250 patients with severe neurological diseases,58 had pressure injuries.Of these,35(60.34%)had mucosal pressure injuries,while 23(39.66%)had device-related pressure injuries.According to the National Pressure Injury Advisory Panel Pressure Injury Staging System,46 cases(79.31%)had stage 1 pressure injuries,8 cases(13.97%)had stage 2 pressure injuries,4 cases(6.90%)had stage 3 pressure injuries,and no patients had stage 4 pressure injuries.Logistic multivariate regression analysis showed that primary diagnosis requiring neurocritical care admission(odds ratio[OR]=3.102;95%CI,1.013-9.499),coma or lethargy status(OR=3.769;95%CI,1.237-11.478),and APACHE Ⅱ score(OR=0.201;95%CI,0.124-0.328)were influencing factors for pressure injury in patients with severe neurological diseases.The ROC results showed that the AUC of the prediction model combining the 3 influencing factors was 0.974(95%CI,0.957-0.992),and that the sensitivity and specificity were 91.40%and 93.70%,respectively.The prediction accuracy of the combination prediction model was 0.96,which was significantly higher than those of the prediction models based on the 3 separate influencing factors(P<0.05).The Hosmer-Lemeshow test showed that the model had a good fit(χ2=4.779,P=0.062),indicating that the model had a relatively high accuracy.Conclusion Acute cerebrovascular disease,coma or lethargy,and APACHE Ⅱ score have different predictive values for pressure injury in patients with severe neurological diseases.While acute cerebrovascular disease and coma or lethargy have the same predictive value separately,the combination prediction incorporating the 3 influencing factors demonstrated superior accuracy and holds considerable potential for clinical application.
4.Determination of residual solvents in amidoxime EN chelating agents by headspace gas chromatography
Jinshou ZHU ; Bingkun XIAO ; Xiaoyao MIAO ; Fang YANG ; Rongqing HUANG
Military Medical Sciences 2025;49(5):370-373
Objective To establish an analytical method for the determination of methanol and ethanol solvent residues in amidoxime EN chelating agents by headspace gas chromatography.Methods The samples were analyzed in a GC-2030 gas chromatograph system using a Shimadzu HS-20 fully automated headspace injector and quantified by an internal standard method.The samples were separated and detected by the DB-WAX capillary column with a flame ionization detector(FID).The thermostatic furnace temperature was 70 ℃ and the equilibrium time of the sample bottle was 30 min.The sample flow path temperature was 150℃ and the carrier gas was high pure nitrogen.As temperature programming,the initial column temperature of 40 ℃ lasted 9 min and increased to 200 ℃ at 40 ℃/min for 2 min.Results The peak areas of the residual solvents in EN chelator showed good linearity(R2>0.999)in the mass concentration range investigated,the detection limits of solvent methanol and ethanol were 0.25 μg/mL and 0.30 μg/mL respectively,and the limits of quantification were 1.25 μg/mL and 1.50 μg/mL,respectively.The recovery of residual solvent addition ranged from 97.10%to 102.23%,and the RSD value was less than 5.00%.Conclusion This method is sensitive enough to be used for the determination of solvent residues in amidoxime EN chelating agents.
5.Efficacy and safety of repetitive transcranial magnetic stimulation in the treatment of postpartum depression: a Meta-analysis
Shuang ZHENG ; Luping YANG ; Binyang HUANG ; Miao CAO ; Mengxiao LI ; Wenjun YANG ; Chunliang GUO ; Rongmei ZHENG ; Yuyang ZHANG ; Hua LI
Sichuan Mental Health 2025;38(6):568-576
BackgroundPostpartum depression (PPD) is a prevalent postpartum complications that significantly compromises women's psychological and physical well-being. Repetitive transcranial magnetic stimulation (rTMS), a conventional neuromodulation technique, has been increasingly used in the treatment of PPD. However, high-quality evidence regarding its efficacy and safety remains limited. ObjectiveTo evaluate the efficacy and safety of rTMS in the treatment of PPD, thereby providing references for clinical treatment. MethodsDatabases including Cochrane Library, PubMed, Embase, CNKI, Wanfang, VIP and China Biology Medicine disc (CBM) were electronically searched for randomized controlled trials (RCTs) on rTMS for PPD, with the search spanning from database inception to February 8, 2025. Study quality was assessed using the Cochrane Handbook for Systematic Reviews of Interventions 5.0.1, and the certainty of evidence was graded according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Meta-analysis was conducted using RevMan 5.3 and Stata 12.0. The outcomes of the Meta-analysis included the total effective rate, Edinburgh Postnatal Depression Scale (EPDS) score, Hamilton Depression Rating Scale (HAMD) score, and adverse reactions (dizziness, headache, nausea, diarrhea, and the overall incidence of adverse reactions). ResultsA total of 11 studies involving 729 patients with PPD were included. Meta-analysis results showed that the total effective rate in the study group was significantly higher than that in the control group (OR=5.54, 95% CI: 3.07–10.01, P<0.01). Both EPDS score (SMD=-2.38, 95% CI: -3.39–-1.37, P<0.01) and HAMD score (SMD=2.53, 95% CI: 1.21–3.85, P<0.01) in the study group were significantly lower than those in the control group, with statistically significant differences. Comparisons between the study group and control group reveal no significant differences in the incidence of dizziness and headache (RR=1.47, 95% CI: 0.63–3.43, P>0.05), nausea (RR=1.46, 95% CI: 0.55–3.86, P>0.05), diarrhea (RR=0.71, 95% CI: 0.23–2.20, P>0.05), and overall adverse reactions (RR=1.30, 95% CI: 0.79–2.15, P>0.05). GRADE assessment rated the four indicators of dizziness and headache, diarrhea, overall incidence of adverse reactions, and EPDS score as "moderate-certainty evidence", and rated the total effective rate, nausea, and the HAMD score as "low-certainty evidence". ConclusionrTMS demonstrates certain therapeutic efficacy for PPD, with a safety profile comparable to conventional treatment. [Funded by Sichuan Psychological Society Research Planning Project (number, SCSXLXH202403099); Guiding Science and Technology Plan Project of Guangyuan (number, 23ZDYF0095)]
6.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.
7.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.
8.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.
9.Comparison of treatment regimens for unresectable stage III epidermal growth factor receptor ( EGFR ) mutant non-small cell lung cancer.
Xin DAI ; Qian XU ; Lei SHENG ; Xue ZHANG ; Miao HUANG ; Song LI ; Kai HUANG ; Jiahui CHU ; Jian WANG ; Jisheng LI ; Yanguo LIU ; Jianyuan ZHOU ; Shulun NIE ; Lian LIU
Chinese Medical Journal 2025;138(14):1687-1695
BACKGROUND:
Durvalumab after chemoradiotherapy (CRT) failed to bring survival benefits to patients with epidermal growth factor receptor ( EGFR ) mutations in PACIFIC study (evaluating durvalumab in patients with stage III, unresectable NSCLC who did not have disease progression after concurrent chemoradiotherapy). We aimed to explore whether locally advanced inoperable patients with EGFR mutations benefit from tyrosine kinase inhibitors (TKIs) and the optimal treatment regimen.
METHODS:
We searched the PubMed, Embase, the Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases from inception to December 31, 2022 and performed a meta-analysis based on a Bayesian framework, with progression-free survival (PFS) and overall survival (OS) as the primary endpoints.
RESULTS:
A total of 1156 patients were identified in 16 studies that included 6 treatment measures, including CRT, CRT followed by durvalumab (CRT-Durva), TKI monotherapy, radiotherapy combined with TKI (RT-TKI), CRT combined with TKI (CRT-TKI), and TKI combined with durvalumab (TKI-Durva). The PFS of patients treated with TKI-containing regimens was significantly longer than that of patients treated with TKI-free regimens (hazard ratio [HR] = 0.37, 95% confidence interval [CI], 0.20-0.66). The PFS of TKI monotherapy was significantly longer than that of CRT (HR = 0.66, 95% CI, 0.50-0.87) but shorter than RT-TKI (HR = 1.78, 95% CI, 1.17-2.67). Furthermore, the PFS of RT-TKI or CRT-TKI were both significantly longer than that of CRT or CRT-Durva. RT-TKI ranked first in the Bayesian ranking, with the longest OS (60.8 months, 95% CI = 37.2-84.3 months) and the longest PFS (21.5 months, 95% CI, 15.4-27.5 months) in integrated analysis.
CONCLUSIONS:
For unresectable stage III EGFR mutant NSCLC, RT and TKI are both essential. Based on the current evidence, RT-TKI brings a superior survival advantage, while CRT-TKI needs further estimation. Large randomized clinical trials are urgently needed to explore the appropriate application sequences of TKI, radiotherapy, and chemotherapy.
REGISTRATION
PROSPERO; https://www.crd.york.ac.uk/PROSPERO/ ; No. CRD42022298490.
Humans
;
Carcinoma, Non-Small-Cell Lung/therapy*
;
ErbB Receptors/genetics*
;
Lung Neoplasms/drug therapy*
;
Mutation/genetics*
;
Protein Kinase Inhibitors/therapeutic use*
;
Chemoradiotherapy
;
Antibodies, Monoclonal/therapeutic use*
10.Safety and effectiveness of lecanemab in Chinese patients with early Alzheimer's disease: Evidence from a multidimensional real-world study.
Wenyan KANG ; Chao GAO ; Xiaoyan LI ; Xiaoxue WANG ; Huizhu ZHONG ; Qiao WEI ; Yonghua TANG ; Peijian HUANG ; Ruinan SHEN ; Lingyun CHEN ; Jing ZHANG ; Rong FANG ; Wei WEI ; Fengjuan ZHANG ; Gaiyan ZHOU ; Weihong YUAN ; Xi CHEN ; Zhao YANG ; Ying WU ; Wenli XU ; Shuo ZHU ; Liwen ZHANG ; Naying HE ; Weihuan FANG ; Miao ZHANG ; Yu ZHANG ; Huijun JU ; Yaya BAI ; Jun LIU
Chinese Medical Journal 2025;138(22):2907-2916
INTRODUCTION:
Lecanemab has shown promise in treating early Alzheimer's disease (AD), but its safety and efficacy in Chinese populations remain unexplored. This study aimed to evaluate the safety and 6-month clinical outcomes of lecanemab in Chinese patients with mild cognitive impairment (MCI) or mild AD.
METHODS:
In this single-arm, real-world study, participants with MCI due to AD or mild AD received biweekly intravenous lecanemab (10 mg/kg). The study was conducted at Hainan Branch, Ruijin Hospital Shanghai Jiao Tong University School of Medicine. Patient enrollment and baseline assessments commenced in November 2023. Safety assessments included monitoring for amyloid-related imaging abnormalities (ARIA) and other adverse events. Clinical and biomarker changes from baseline to 6 months were evaluated using cognitive scales (mini-mental state examination [MMSE], montreal cognitive assessment [MoCA], clinical dementia rating-sum of boxes [CDR-SB]), plasma biomarker analysis, and advanced neuroimaging.
RESULTS:
A total of 64 patients were enrolled in this ongoing real-world study. Safety analysis revealed predominantly mild adverse events, with infusion-related reactions (20.3%, 13/64) being the most common. Of these, 69.2% (9/13) occurred during the initial infusion and 84.6% (11/13) did not recur. ARIA-H (microhemorrhages/superficial siderosis) and ARIA-E (edema/effusion) were observed in 9.4% (6/64) and 3.1% (2/64) of participants, respectively, with only two symptomatic cases (one ARIA-E presenting with headache and one ARIA-H with visual disturbances). After 6 months of treatment, cognitive scores remained stable compared to baseline (MMSE: 22.33 ± 5.58 vs . 21.27 ± 4.30, P = 0.733; MoCA: 16.38 ± 6.67 vs . 15.90 ± 4.78, P = 0.785; CDR-SB: 2.30 ± 1.65 vs . 3.16 ± 1.72, P = 0.357), while significantly increasing plasma amyloid-β 42 (Aβ42) (+21.42%) and Aβ40 (+23.53%) levels compared to baseline.
CONCLUSIONS:
Lecanemab demonstrated a favorable safety profile in Chinese patients with early AD. Cognitive stability and biomarker changes over 6 months suggest potential efficacy, though high dropout rates and absence of a control group warrant cautious interpretation. These findings provide preliminary real-world evidence for lecanemab's use in China, supporting further investigation in larger controlled studies.
REGISTRATION
ClinicalTrials.gov , NCT07034222.
Humans
;
Alzheimer Disease/drug therapy*
;
Male
;
Female
;
Aged
;
Middle Aged
;
Cognitive Dysfunction/drug therapy*
;
Aged, 80 and over
;
Amyloid beta-Peptides/metabolism*
;
Biomarkers
;
East Asian People

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