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.Nebulization Characteristics Study of Human Interferon α1b for Injection Based on ELISA
Miao LI ; Jinqiu HUANG ; Peng SHEN ; Zhenyu ZHONG ; Xiaogang JIANG ; Jialu HOU ; Ning HE ; Guang FENG ; Jiangtao BAI
Herald of Medicine 2025;44(11):1821-1829
Objective To investigate the nebulization characteristics of human interferon α1b for injection.To characterize and compare the delivery rate,total drug substance and the aerodynamic characteristics between the two types of nebulizer.Methods Connect two types of nebulizers with a breathing simulator,respectively,and simulate the breathing patterns of an infant and child.Measure the delivery rate,total delivered dose,and delivery uniformity.The aerodynamic properties of human interferon α1b for injection were evaluated by the next generation impactor(NGI).The content of human interferon α1b was quantified by double antibody sandwich ELISA.Results In the three batches of samples in infant mode,the delivery rate and total delivered dose determind by A nebulizer were 0.45,0.49,0.44 μg·min-1,3.06,3.21,3.81 μg,respectcively;and 0.12,0.14,0.16 μg·min-1,0.73,0.73,0.75 μg,respectcively by B nebulizer.In child mode,the delivery rate and total delivered doses determined by A nebulizer were 1.36,1.49,1.20 μg·min-1,7.44,7.17,and 6.54 μg,respectcively;and 0.37,0.36,0.43 μg·min-1,1.66,1.59,and 1.41 μg,respectcively by B nebulizer.In child and infant mode,the ten results of the total drug substance delivered determined by nebulizer A were both between 65%to 135%of the average.The FPD,FPF,MMAD,and GSD determined by A neublizer of three batch samples were 2.48,2.92,2.35 μg,59.0%,57.4%,59.1%,4.18,4.34,4.15 μm,1.94,1.98,2.01,respectively.The FPD,FPF,MMAD and GSD determined by B neublizer of three batches samples were 2.70,3.38,3.06 μg,67.6%,66.4%,66.3%,3.55,3.65,3.68 μm,2.03,2.04,2.06,respectively.Conclusions The data obtained in this research characterized the in vitro nebulization characteristics of human interferon α1b for injection and provided a theoretical basis and reference for in vitro study and clinical practice.The influence of different types of nebulizers on nebulization characteristics was evaluated as well.It is suggested that the quality standard of nebulizers be strictly formulated and the use of nebulizers be standardized.
3.Analysis of endometrial microbiota characteristics in patients with varying degrees of intrauterine adhesions
Yiyang LUO ; Zhoulin ZHANG ; Yu XIAO ; Qiaoyun ZHOU ; Wenjun JIANG ; Wanfeng SONG ; Tianyu MIAO ; Xin AN ; Xiaowu HUANG
Chinese Journal of Reproduction and Contraception 2025;45(9):880-885
Objective:To investigate the characteristics of the endometrial microbiota in patients with varying degrees of intrauterine adhesion (IUA).Methods:This single-center cross-sectional observational study enrolled 115 patients with IUA who were treated at the Hysteroscopic Center of Fuxing Hospital, Capital Medical University, from May 2022 to October 2023. After quality control and data preprocessing, 81 samples met the inclusion criteria for analysis. Patients were grouped according to an established IUA scoring and grading system into mild IUA ( n=38) and moderate-to-severe IUA ( n=43). Endometrial tissue was collected under sterile conditions. Bacterial genomic DNA was extracted, the 16S rRNA V3-V4 region was amplified, and sequencing was performed on an Illumina platform. Differences in endometrial microbiota diversity and composition were compared between the two groups. Results:Patients with varying degrees of IUA exhibited comparable species richness, evenness and diversity of endometrial microbiota. At the phylum level, the endometrial microbiota across all subjects was predominantly composed of Proteobacteria, Firmicutes, Cyanobacteriota, Bacteroidota, and Actinobacteriota, with Proteobacteria (32.29%) and Firmicutes (23.82%) showing the highest mean relative abundances. At the genus level, Ralstonia (16.67%), Lactobacillus (13.45%), and Streptococcus (7.07%) were the most abundant genera. Group comparisons showed that the abundance of Ralstonia was higher in the mild IUA group, whereas Lactobacillus, Vibrio and Pseudoalteromonas were more abundant in the moderate-to-severe IUA group; however, these differences did not reach statistical significance (all P>0.05). LEfSe analysis further indicated that Lactobacillus, Vibrio, Pseudoalteromonas, Aeromonas, Ureaplasma and Acetobacterium were relatively enriched in the moderate-to-severe IUA group, while Geobacillus, Stomatobaculum and Fusicatenibacter were more abundant in the mild IUA group. Conclusion:The composition of the endometrial microbiota differs among patients with varying IUA severity. IUA progression may be associated with alterations in the endometrial microbiota; however, causal relationships and underlying mechanisms require further investigation.
4.Research progress on magnetic resonance imaging and neurobiological mechanisms of anhedonia in major depressive disorder
Peishan HUANG ; Ke WANG ; Xuelin ZHANG ; Yi MIAO ; Qiangli DONG
Chinese Journal of Nervous and Mental Diseases 2025;51(3):180-185
Major depressive disorder is a common mental disorder,one of the core symptoms of which is anhedonia,characterized by a reduced ability to respond to pleasurable stimuli.Brain images of patients with major depressive disorders with anhedonia show the following features:reduced volume or cortical thickness in brain regions such as the striatum and temporal lobe,changes in the microstructure of white matter tracts,abnormal neuronal activity in the frontal lobe,temporal lobe,and limbic system,and altered connectivity in the default mode network,reward network,and fronto-parietal network.Additionally,factors such as stress,gene expression,the glutamate system,and biological rhythms may also influence anhedonia.The neurobiological mechanisms of anhedonia are intricate,and are crucial for the diagnosis,treatment,and prognosis of depressive disorders.
5.Interpretation of the Nursing Principles Section in the 2024 EAUN Evidence-Based Guidelines for Best Practices in Adult Indwelling Catheterization
Wenwen JIA ; Beibei ZHANG ; Xiaoli ZHANG ; Feijie WANG ; Lijie HUANG ; Zhifeng WANG ; Jinpeng ZHANG ; Xiaohui MIAO
Chinese Journal of Practical Nursing 2025;41(32):2542-2547
Indwelling urinary catheterization is one of the most widely used invasive procedures in clinical practice, playing a critical role in disease diagnosis, treatment, and monitoring. In 2024, the European Association of Urology Nurses (EAUN) released the Best Practice Guidelines for Indwelling Urinary Catheterization in Adults-Transurethral and Suprapubic Catheterization (hereinafter referred to as the Guideline), aiming to provide evidence-based clinical guidance and health education information for healthcare professionals. This article interprets the section on "Nursing Principles" within the Guideline, which spans the entire process of catheter management. Key aspects covered include pre-insertion preparation, catheter insertion procedure, catheter maintenance and securement, observation of urine color, prevention of constipation, and catheter removal. The aim is to help urology nurses and related healthcare personnel gain an in-depth understanding of the recommendations in the Guideline, promote its standardized application in clinical practice, improve the quality of indwelling catheter care, and ensure patient safety.
6.Epigenetic characteristics of hepatogenic differentiation of mesenchymal stem cells in three-dimensional culture
Haina HUANG ; Yanrong YU ; Jian BI ; Miao HUANG ; Weijie PENG
Chinese Journal of Tissue Engineering Research 2025;29(36):7848-7855
BACKGROUND:Hepatocyte-like cells induced by mesenchymal stem cells are promising seed cells for liver regeneration or liver tissue engineering.The efficiency of traditional two-dimensional culture for hepatocyte induction is low,and more and more research is focused on three-dimensional culture for inducing hepatocyte differentiation.OBJECTIVE:To summarize three-dimensional culture models for the hepatic induction of mesenchymal stem cells,focus on research progress on the epigenetic regulation mechanisms of mesenchymal stem cell hepatogenic differentiation,providing a theoretical basis for improving the differentiation efficiency of mesenchymal stem cells.METHODS:Relevant articles in the PubMed and other databases such as CNKI were searched,using Chinese and English search terms"mesenchymal stem cell,3D culture,hepatogenic differentiation,hepatocyte-like cells,epigenetics."Additionally,the literature tracing method was employed to find some of the literature for a comprehensive review and analysis.RESULTS AND CONCLUSION:(1)Common three-dimensional culture models for the hepatogenic differentiation of mesenchymal stem cells currently include spheroids,biological scaffolds,bioprinting,and microfluidic chips.Each of these models has its own advantages and disadvantages in the process of inducing hepatogenic differentiation.(2)During the differentiation of mesenchymal stem cells into hepatocyte-like cells,epigenetic regulation plays a key role,primarily involving histone modification,DNA methylation,and the regulation of non-coding RNAs.(3)Under three-dimensional culture conditions,epigenetic modifications,especially histone acetylation,play an important role in promoting the hepatogenic differentiation of mesenchymal stem cells.
7.The correlation between the levels of APC,TXB2,and sB7-H3 in peripheral blood of elderly patients with pneumonia and the severity and prognosis of the disease
Fuxia ZHENG ; Lijun MIAO ; Fengxiang HUANG ; Shifu HUANG ; Zengyan GAO ; Ruixia ZHANG ; Yong MENG
The Journal of Practical Medicine 2025;41(7):1056-1061
Objective To investigate the correlation between the levels of activated protein C(APC),thromboxane B2(TXB2),and soluble B7-H3(sB7-H3)in the peripheral blood of elderly patients with pneumonia and the severity as well as prognosis of the disease.Methods One hundred elderly pneumonia patients admitted to our hospital from March 2022 to June 2024 were enrolled as the study group,and 100 healthy volunteers during the same period were selected as the control group.The levels of APC,TXB2,and sB7-H3 in peripheral blood were com-pared between the two groups.Study group patients were further categorized into low-risk,medium-risk,and high-risk subgroups based on the CURB-65 score(Confusion,Uremia,Respiratory rate,Blood pressure,Age≥65 years).The levels of APC,TXB2,and sB7-H3 in peripheral blood were compared among patients with varying disease severities.Pearson correlation analysis was performed to evaluate the correlation between the levels of APC,TXB2,and sB7-H3 in peripheral blood and disease severity.The study group was followed up for 30 days and subsequently divided into good prognosis and poor prognosis subgroups according to their clinical outcomes.Clinical data and peripheral blood levels of APC,TXB2,and sB7-H3 were compared between patients with different prognoses.Partial correlation analysis was conducted to assess the relationship between peripheral blood levels of APC,TXB2,and sB7-H3 and prognosis.Finally,the predictive value of these biomarkers was evaluated using the Receiver Oper-ating Characteristic(ROC)curve.Results The level of APC in the peripheral blood of the study group was signifi-cantly lower than that of the control group,whereas the levels of TXB2 and sB7-H3 were significantly higher(P<0.05).The severity of the disease in the study group was assessed using the CURB-65 score,which categorized patients into 33 mild cases,39 moderate cases,and 28 severe cases.Severe patients exhibited a lower level of APC in peripheral blood compared to moderate and mild patients.Additionally,the levels of TXB2 and sB7-H3 in moderate patients were higher than those in mild patients,while severe patients demonstrated even higher levels of TXB2 and sB7-H3 compared to both moderate and mild patients(P<0.05).Pearson correlation analysis revealed that peripheral blood APC was negatively correlated with the CURB-65 score,whereas TXB2 and sB7-H3 were positively correlated with the CURB-65 score(P<0.05).During a 30-day follow-up period,the research team identified 79 patients with good prognoses and 21 patients with poor prognoses.Significant differences were observed in diabetes prevalence,disease severity,and APACHEⅡ scores between the poor prognosis subgroup and the good prognosis subgroup(P<0.05).The levels of APC in peripheral blood were significantly lower in the poor prognosis subgroup compared to the good prognosis subgroup,whereas the levels of TXB2 and sB7-H3 were significantly higher(P<0.05).Partial correlation analysis revealed that peripheral blood APC,TXB2,and sB7-H3 were significantly associ-ated with prognosis(P<0.05).The AUC values for predicting the prognosis of elderly pneumonia patients using peripheral blood APC,TXB2,and sB7-H3 were 0.752,0.738,and 0.761,respectively,with sensitivities of 66.67%,76.19%,and 66.67%,and specificities of 78.48%,67.09%,and 78.48%.When combining these three indicators for prognostic prediction,the AUC increased to 0.918,with a sensitivity of 85.71%and a specificity of 87.34%,demonstrating a significant improvement in predictive accuracy compared to each indicator used alone(Z=2.207,2.666,2.109,P=0.027,0.008,0.035).Conclusion The levels of APC,TXB2,and sB7-H3 in the peripheral blood of elderly patients with pneumonia are significantly associated with the severity and prognosis of the disease.Combined detection of these biomarkers can serve as a reliable predictor of clinical outcomes.
8.Effects of aqueous extract of Bulbophyllum kwangtungense on liver damage and Nrf2/HO-1/NQO-1 signaling pathway in a rat model of D-galactose-induced oxidative stress
Bing-bing WANG ; Hua ZHU ; Miao ZHANG ; Li-ba XU ; Chun-he WEI ; Ting HUANG
Chinese Traditional Patent Medicine 2025;47(4):1143-1149
AIM To investigate the protective effects of the aqueous extract of Bulbophyllum kwangtungense Schltr.on D-galactose(D-gal),an oxidative stress-induced liver damage in rats.METHODS 60 Male SD rats were randomly divided into the normal control group,the model group,the resveratrol group(20 mg/kg),and low-dose,medium-dose,and high-dose B.kwangtungense aqueous extract groups(750,1 500 and 3 000 mg/kg).Except for those of the normal control group,the rats of the other groups were subcutaneously injected with D-gal(200 mg/kg)in the back of neck to establish a liver damage model.Simultaneously,each group underwent the corresponding drug administration by gavage(10 mL/kg)once daily for 42 days.After the treatment period,the rats had their peripheral blood and liver tissues collected for the calculation of the liver index;their serum AST and ALT activities,hepatic SOD and GSH-Px activities,and MDA levels measured;their hepatic pathological changes observed using HE staining;their hepatic mRNA expressions of Nrf2,NQO-1 and HO-1 detected by RT-qPCR;and their hepatic protein expressions of Nrf2,NQO-1,HO-1,Bax,Bcl-2 and cleaved Caspase-3 measured by Western blot.RESULTS Compared with the model group,the groups intervened with medium-dose or high-dose B.kwangtungense aqueous extract showed increased liver index level(P<0.01);decreased serum AST and ALT activities(P<0.01);increased hepatic SOD and GSH-Px activities(P<0.05,P<0.01);reduced MDA levels(P<0.01);alleviated pathological liver damage and increased hepatic mRNA and protein expressions of Nrf2,NQO-1 and HO-1(P<0.05,P<0.01);and reduced protein expressions of cleaved Caspase-3 and the Bax/Bcl-2 ratio as well(P<0.05,P<0.01).CONCLUSION The aqueous extract of B.kwangtungense is protective of rats with D-gal-induced liver injury,and the underlying mechanism may associate with the inhibition of oxidative stress and the suppression of hepatocellular apoptosis mediated by the activation of the Nrf2/HO-1/NQO-1 signaling pathway.
9.Jiaotai Pill Ameliorates Type 2 Diabetes in Rats Via Modulation of Neurotransmitters in HPA-Related Tissues
Xiaobin HUANG ; Jianhua CHEN ; Yanyi LI ; Qing MIAO ; Yujie ZHANG
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(4):1047-1057
Objective To investigate the therapeutic effects of Jiaotai Pill(JTP)on type 2 diabetic(T2DM)rats,a systemic study was conducted by examining the changes in neurotransmitter levels related to the hypothalamic-pituitary-adrenal(HPA)axis.Methods The rats were divided into a normal group,a model group,a metformin group(183 mg·kg-1·d-1),and a JTP treatment group(3.3 g·kg-1·d-1).A T2DM model was established using a high-fat diet combined with streptozotocin.After 28 days of intragastric administration of JTP and metformin,metabolic indicators,Fasting blood glucose(FBG),insulin(INS),blood lipids,and pathological changes in the liver and kidneys were measured in each group of rats.Levels of eight neurotransmitters were quantified in serum,urine,and multiple tissues(brain,heart,liver,kidney,intestine,and adrenal gland)using ultra-high-performance liquid chromatography-tandem mass spectrometry.Results Compared to the T2DM model group,the JTP intervention groups showed varying degrees of reduction in water intake,food intake,FBG,INS,and blood lipids(P<0.05).Additionally,the fatty degeneration in the liver,glomerular lesions in the kidneys,and dyslipidemia were significantly improved.JTP intervention significantly modulated the disordered neurotransmitter levels in the blood,urine,and various tissues of T2DM rats(P<0.05),with the greatest number of neurotransmitters showing a notable recovery in blood,urine,brain,and adrenal gland.Conclusion JTP at a dosage of 3.3 g·kg-1·d-1 can improve the glucose and lipid metabolism in rats.JTP can regulate the HPA axis-related neurotransmitter system,mitigating metabolic disturbances and organ damage associated with T2DM.
10.Value of 18F-PSMA-1007 PET/MR and diffusion kurtosis imaging in the diagnosis of prostate cancer and prostatic hyperplasia
Yu ZHANG ; Xinyun HUANG ; Fan FU ; Xiaozhu LIN ; Jin WANG ; Biao LI ; Miao ZHANG ; Hongping MENG
Chinese Journal of Nuclear Medicine and Molecular Imaging 2025;45(7):400-404
Objective:To investigate the value of diffusion kurtosis imaging (DKI) and 18F-prostate specific membrane antigen (PSMA)-1007 in the differential diagnosis of prostate cancer (PCa) and benign prostatic hyperplasia (BPH) by using PET/MR imaging. Methods:From June 2019 to December 2022, a retrospective analysis was conducted on 134 patients ((65.5±10.0) years) with prostate diseases who underwent 18F-PSMA-1007 PET/MR whole-body examination at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, with the prostate specific antigen (PSA) level continuously rising to >4μg/L within 1 month and not yet receiving treatment. Patients were divided into 2 groups (PSA<10μg/L and PSA≥10μg/L). The PET/MR examination included high b-value diffusion imaging, and the ROI was delineated based on the prostate diffusion weighted imaging (DWI) high-signal area and apparent diffusion coefficient (ADC) low-signal area by the professional radiology physician. The SUV max, mean kurtosis (MK), and mean diffusivity (MD) were obtained. Spearman rank correlation analysis was performed, and ROC curve was used to analyze the diagnostic efficacy. Results:Of 134 patients, 72 were with PSA<10μg/L and 62 were with PSA≥10μg/L. There were 68 patients who obtained biopsy results, including 37 cases of BPH and 31 cases of PCa. In PSA<10μg/L group, there were no significant correlations between MK and SUV max, MK and PSA ( rs values: 0.22, 0.06, P values: 0.065, 0.603). In the PSA≥10μg/L group, there were positive correlations between MK and SUV max, MK and PSA ( rs values: 0.52, 0.40, P values: 0.008, 0.005). In the PSA<10μg/L group, SUV max, MK, and MD showed no diagnostic value (AUCs: 0.44-0.67, all P>0.05), while the AUC for combined diagnosis using these three parameters was 0.78( P=0.008). In the PSA≥10μg/L group, the AUCs of SUV max, MK, and MD were 0.81( P=0.001), 0.84( P<0.001) and 0.72( P=0.023) respectively, and the AUC for combined diagnosis using these three parameters was 0.91( P<0.001). Conclusion:The combination of MK, MD and SUV max improves the diagnostic efficacy of PCa in PET/MR examination.

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