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.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.
4.Toxic Components, Toxicity Mechanisms, Toxicity Attenuation Measures, and Evaluation Methods of Renal Injury-inducing Chinese Medicine
Xin HUANG ; Lujin ZHANG ; Mingsan MIAO ; Can WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):295-304
ObjectiveWe reviewed the existing experimental studies about renal injury-inducing Chinese medicine and systematically analyzed the toxicity mechanisms, toxic components, toxicity attenuation measures, and modern evaluation methods of renal injury-inducing Chinese medicine. The results are expected to provide new ideas for the modern research on kidney injury-inducing Chinese medicine, offer new breakthrough points for the toxicity attenuation of Chinese medicine by compatibility and processing, and give insights into the future research of Chinese medicine toxicology on the basis of ensuring the safety and scientific application of Chinese medicine. MethodsThe animal, cell, and clinical studies of kidney injury-inducing Chinese medicine were retrieved from CNKI, Wanfang Data, VIP, PubMed, and Web of Science. The names and toxic components of renal injury-inducing Chinese medicine, renal injury sites, toxicity mechanisms, toxicity attenuation measures, and related evaluation methods were summarized. ResultsThe toxicity mechanisms of kidney injury-inducing Chinese medicine mainly involved oxidative stress, endoplasmic reticulum stress, inflammatory cell infiltration, and organic anion transporters. Processing and compatibility were the main toxicity attenuation measures. The evaluation methods encompassed animal experiments, cell models, network pharmacology, metabolomics, toxicology genomics, and fluorescent probe technology. ConclusionAt present, the toxicological verification of kidney injury-inducing Chinese medicine starts from toxic components and combines various experimental methods, which is more comprehensive and systematic than the previous studies based on only animal experiments. According to the classical theories of traditional Chinese medicine, the toxicity of kidney injury-inducing Chinese medicine is mainly attenuated by decocting in water, steaming, and frying. With the progress of science and technology, new processing methods for toxicity attenuation are emerging, and structural transformation, fermentation, and microwave methods are the key research directions of toxicity attenuation of Chinese medicine in recent years.
5.Toxic Components, Toxicity Mechanisms, Toxicity Attenuation Measures, and Evaluation Methods of Renal Injury-inducing Chinese Medicine
Xin HUANG ; Lujin ZHANG ; Mingsan MIAO ; Can WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):295-304
ObjectiveWe reviewed the existing experimental studies about renal injury-inducing Chinese medicine and systematically analyzed the toxicity mechanisms, toxic components, toxicity attenuation measures, and modern evaluation methods of renal injury-inducing Chinese medicine. The results are expected to provide new ideas for the modern research on kidney injury-inducing Chinese medicine, offer new breakthrough points for the toxicity attenuation of Chinese medicine by compatibility and processing, and give insights into the future research of Chinese medicine toxicology on the basis of ensuring the safety and scientific application of Chinese medicine. MethodsThe animal, cell, and clinical studies of kidney injury-inducing Chinese medicine were retrieved from CNKI, Wanfang Data, VIP, PubMed, and Web of Science. The names and toxic components of renal injury-inducing Chinese medicine, renal injury sites, toxicity mechanisms, toxicity attenuation measures, and related evaluation methods were summarized. ResultsThe toxicity mechanisms of kidney injury-inducing Chinese medicine mainly involved oxidative stress, endoplasmic reticulum stress, inflammatory cell infiltration, and organic anion transporters. Processing and compatibility were the main toxicity attenuation measures. The evaluation methods encompassed animal experiments, cell models, network pharmacology, metabolomics, toxicology genomics, and fluorescent probe technology. ConclusionAt present, the toxicological verification of kidney injury-inducing Chinese medicine starts from toxic components and combines various experimental methods, which is more comprehensive and systematic than the previous studies based on only animal experiments. According to the classical theories of traditional Chinese medicine, the toxicity of kidney injury-inducing Chinese medicine is mainly attenuated by decocting in water, steaming, and frying. With the progress of science and technology, new processing methods for toxicity attenuation are emerging, and structural transformation, fermentation, and microwave methods are the key research directions of toxicity attenuation of Chinese medicine in recent years.
6.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)]
7.Screen of FDA-approved drug library identifies vitamin K as anti-ferroptotic drug for osteoarthritis therapy through Gas6
Yifeng SHI ; Sunlong LI ; Shuhao ZHANG ; Caiyu YU ; Jiansen MIAO ; Shu YANG ; Yan CHEN ; Yuxuan ZHU ; Xiaoxiao HUANG ; Chencheng ZHOU ; Hongwei OUYANG ; Xiaolei ZHANG ; Xiangyang WANG
Journal of Pharmaceutical Analysis 2025;15(5):1033-1047
Ferroptosis of chondrocytes is a significant contributor to osteoarthritis(OA),for which there is still a lack of safe and effective therapeutic drugs targeting ferroptosis.Here,we screen for anti-ferroptotic drugs in Food and Drug Administration(FDA)-approved drug library via a high-throughput manner in chondrocytes.We identified a group of FDA-approved anti-ferroptotic drugs,among which vitamin K showed the most powerful protective effect.Further study demonstrated that vitamin K effectively inhibited ferroptosis and alleviated the extracellular matrix(ECM)degradation in chondrocytes.Intra-articular injection of vitamin K inhibited ferroptosis and alleviated OA phenotype in destabilization of the medial meniscus(DMM)mouse model.Mechanistically,transcriptome sequencing and knockdown experiments revealed that the anti-ferroptotic effects of vitamin K depended on growth arrest-specific 6(Gas6).Furthermore,exogenous expression of Gas6 was found to inhibit ferroptosis through the AXL receptor tyrosine kinase(AXL)/phosphatidylinositol 3-kinase(PI3K)/AKT serine/threonine kinase(AKT)axis.Together,we demonstrate that vitamin K inhibits ferroptosis and alleviates OA progression via enhancing Gas6 expression and its downstream pathway of AXL/PI3K/AKT axis,indicating vitamin K as well as Gas6 to serve as a potential therapeutic target for OA and other ferroptosis-related diseases.
8.Application value of chromosomal microarray analysis for the detection of low-level mosaicisms in amniotic fluid samples and analysis of rare cases.
Huiyuan SHAO ; Zongyu MIAO ; Hong WU ; Lei LI ; Xiaoyan LIU ; Yuping WANG ; Lihua JIANG
Chinese Journal of Medical Genetics 2025;42(4):441-445
OBJECTIVE:
To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.
METHODS:
Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells.
RESULTS:
Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.
CONCLUSION
CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
Humans
;
Female
;
Amniotic Fluid/metabolism*
;
Pregnancy
;
Mosaicism/embryology*
;
Prenatal Diagnosis/methods*
;
Adult
;
In Situ Hybridization, Fluorescence
;
Microarray Analysis/methods*
;
Karyotyping
;
Retrospective Studies
;
Male
9.Clinical Applications of Circulating Tumor DNA in Response Evaluation and Relapse Monitoring of Primary Mediastinal Large B-Cell Lymphoma.
Lu PAN ; Xin-Miao JIANG ; Yan TENG ; Ning WANG ; Ling HUANG ; Han-Guo GUO ; Si-Chu LIU ; Xiao-Juan WEI ; Fei-Li CHEN ; Zhan-Li LIANG ; Wen-Yu LI
Journal of Experimental Hematology 2025;33(2):407-415
OBJECTIVE:
To explore the clinical significance of circulating tumor DNA (ctDNA) in response evaluation and relapse monitoring for patients with primary mediastinal large B-cell lymphoma (PMBCL).
METHODS:
The clinical characteristics, efficacy and survival of 38 PMBCL patients in our hospital from January 2010 to April 2020 were retrospectively analyzed. The ctDNA monitoring was conducted by targeted next-generation sequencing (NGS).
RESULTS:
Among the 38 patients, 26 cases were female, and 32 cases were diagnosed with Ann Arbor stage I-II. The 5-year overall survival (OS) rate and progression-free survival (PFS) rate were 74.7% and 61.7%, respectively. Males and those with high aaIPI scores (3 points) had a relatively poor prognosis. The NGS results of 23 patients showed that STAT6 (65.2%), SOCS1 (56.5%), and TNFAIP3 (56.5%) were the most common mutated genes. Patients with stable disease (SD)/progressive disease (PD) exhibited enrichment in cell cycle, FoxO, and TNF signaling pathways. A total of 29 patients underwent end-of-treatment PET/CT (EOT PET/CT), and 16 of them received ctDNA monitoring with 12 negative. Among 6 patients with EOT PET/CT positive (Deauville 4), 4 underwent ctDNA monitoring, and 3 of them were negative, being still in continuous remission without any subsequent anti-tumor therapy.
CONCLUSION
CtDNA may be combined with PET/CT to assess efficacy, monitor relapse, and guide treatment of PMBCL.
Humans
;
Circulating Tumor DNA/blood*
;
Female
;
Mediastinal Neoplasms
;
Male
;
Retrospective Studies
;
High-Throughput Nucleotide Sequencing
;
Prognosis
;
Lymphoma, Large B-Cell, Diffuse/genetics*
;
Middle Aged
;
Adult
;
Aged
;
Neoplasm Recurrence, Local
;
Mutation


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