1.Research Progress on the Efficacy and Safety of Deflazacort in the Treatment of Duchenne Muscular Dystrophy
Tingting XU ; Wei ZUO ; Xin LIU ; Shaohong WANG ; Zhuo SUN ; Junmei SHANG ; Luyao QIAO ; Bo ZHANG
JOURNAL OF RARE DISEASES 2025;4(2):248-257
Deflazacort,as a glucocorticoid medication,is conductive to improving motor function and muscle strength,delaying the loss of ambulation,enhancing pulmonary function,reducing the risk of scoliosis,slowing the progression of cardiomyopathy,and increasing survival rates in patients with Duchenne muscular dystrophy(DMD).In February 2017,the U.S.Food and Drug Administration(FDA)approved deflazacort for the treatment of DMD.In May 2024,deflazacort entered Peking Union Medical College Hospital for desig-nated use through the " temporary import" pathway.This article provides an overview of deflazacort from the perspectives of its mechanism of action,pharmacokinetics,clinical efficacy,and adverse effects,aiming to offer a reference for its rational and safe application in clinical practice.
2.KDM6B gene variation associated neurological developmental disorder: a case report and literature review
Liming ZHANG ; Lei LIU ; Jianwei YANG ; Hongqi SUN ; Zhixiao YANG ; Junmei YANG
Chinese Journal of Neurology 2025;58(11):1205-1210
Objective:To investigate the clinical and genetic characteristics of KDM6B gene variation associated neurological developmental disorder in a child. Methods:Clinical data were collected from a child of KDM6B gene variation associated neurological developmental disorder admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2021. His clinical manifestations and genetic variation profiles were retrospectively analyzed and literature review was conducted. Results:The patient was a one-year-six-month old male, with protruding forehead, joint laxity, distal skeletal abnormalities, and behavioral, cognitive, language, intellectual, and psychomotor development disorder. The whole-exome sequencing and Sanger sequencing confirmed that there was a de novo heterozygous frameshift variation c.1718delC(p.Pro573Hisfs *9) in exon 11 of the KDM6B gene. This variation was classified as pathogenic (PVS1+PS2+PM2_supporting) according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, with no prior reports. By literature review, no relevant Chinese literature was retrieved, whereas 4 English literatures were found, reporting 98 patients, totally 99 patients (including this case) with nervous system development disorder due to KDM6B gene variation. The main manifestations were neurodevelopmental disorders such as speech, motor, and behavioral abnormalities, mental retardation, as well as facial deformities, hypotonia, infantile feeding difficulties/gastroesophageal reflux, joint/ligament laxity, and abnormalities of the hands and toes/palms. A total of 83 variation sites were found, including 37 frameshift variations, 18 missense variations, 21 nonsense variations, and 7 splicing variations, all of which were heterozygous variations. Conclusions:The KDM6B gene variation can lead to neurodevelopmental disorder, craniofacial developmental and skeletal abnormalities. The de novo heterozygous variation in the KDM6B gene is considered to be the genetic etiology of this child. This study extends the spectrum of KDM6B gene variant.
3.Research Progress in the Preparation Process and Pharmacological Effects of 6-Shogaol
Siyi CHENG ; Qing PENG ; Junmei LI ; Ang'ang LI ; Mingqian SUN ; Li LIN ; Shuo MENG ; Jianxun LIU
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(9):180-185
6-Shogaol is an active component of gingerol in zingiber,which can be converted from 6-Gingerol under acidic and heating conditions.Modern research shows that 6-Shogaol has rich pharmacological activities,and it is found that 6-Shogaol has stronger anti-inflammatory,anti-tumor and antioxidant activities than 6-Gingerol.In this article,the preparation technology and pharmacological effects of 6-Shogaol were reviewed,and the extraction and separation methods of 6-Shogaol,as well as the targets and pathways involved in the process of exerting its pharmacological effects,were summarized,which could lay the foundation for the comprehensive development and clinical application of 6-Shogaol.
4.Intervention of Acute Lung Injury by Traditional Chinese Medicine via Regulating Oxidative Stress: A Review
Ang'ang LI ; Xiao LIANG ; Junmei LI ; Qing PENG ; Jianxun LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(10):305-312
Acute lung injury (ALI) is a clinically critical disease with limited treatment options and poor prognosis, with high morbidity and mortality. Pulmonary inflammation caused by trauma, infection, and other factors in vivo and in vitro can damage alveolar epithelial and vascular endothelial barriers, resulting in lung tissue congestion and edema and eventually leading to significant dyspnea and hypoxemia, It can further develop into acute respiratory distress syndrome. Oxidative stress is one of the pathogenesis of ALI. A large number of reactive oxygen species (ROS) can promote the aggregation of inflammatory cells, increase pulmonary capillary permeability, and even directly damage lung tissue. Therefore, regulating oxidative stress becomes one of the effective means to reduce the degree of lung injury. According to the theory of traditional Chinese medicine (TCM), ALI is divided into the categories of "sudden wheezing" and "dyspnea due to wheezing". TCM treats the causes of dampness, heat, poison, and stasis by syndrome differentiation and treatment, regulates Qi and blood, and balances Yin and Yang to restore the physiological function of the lung. In recent years, a large number of studies have shown that TCM can regulate ROS through multiple targets and mechanisms and play a role in reducing lung inflammation and protecting alveolar epithelial cells and endothelial vessels, in which the nuclear factor E2 associated factor 2 (Nrf2) antioxidant pathway plays an important role. Based on the generation and clearance of ROS, this article summarized the related mechanisms of TCM monomers, TCM pairs, and TCM compounds in regulating oxidative stress to prevent ALI, so as to provide theoretical reference for the research and development of new TCM for ALI and clinical treatment.
5.Advancements in the smartification of reproductive health care: examining the utilization and convergence of artificial intelligence technologies in assisted reproduction
Na WANG ; Jing LIU ; Shimin WANG ; Junmei FAN ; Xueqing WU ; Jia ZHAO
Chinese Journal of Reproduction and Contraception 2025;45(2):121-125
Recently, intelligent care is gradually changing the traditional care way, and artificial intelligence (AI) application is gradually broadening in the field of assisted reproduction. This review systematically analyzes the AI application in multiple aspects of reproductive health care. It also indicates the challenge during the process, including data privacy, technical reliability, ethics and legal provisions, and humanistic care. Both the opportunities of AI in assisted reproduction are highlighted and the ensuing problems are analyzed in depth. The purpose is to provide ideas for future studies to ensure that AI technology can be safely, efficiently and responsibly integrated with the field of reproductive health care.
6.Analysis of factors associated with recurrence of macular edema secondary to branch retinal vein occlusion after anti-vascular endothelial growth factor treatment
Junmei WANG ; Shuna WANG ; Xuemin ZHANG ; Jianliang LIU ; Zhenhua FENG
International Eye Science 2025;25(9):1500-1504
AIM: To investigate the risk factors associated with the recurrence of macular edema secondary to branch retinal vein occlusion(BRVO-ME)after anti-vascular endothelial growth factor(anti-VEGF)therapy.METHODS:A total of 32 patients(32 eyes)with BRVO-ME who were treated at the ophthalmology department of the Affiliated Hospital of Shandong Second Medical University from February 2021 to June 2022 were selected. They were treated with a 3+pro re nata (PRN)anti-VEGF regimen and followed up for 6 mo. Following 3 consecutive anti-VEGF injections, patients were categorized into a non-recurrence group and a recurrence group based on central macular thickness(CMT)measured by optical coherence tomography(OCT)at 6 mo post-treatment. Aqueous humor levels of various cytokines levels were quantified using suspension assay method. Demographic characteristics, CMT, and cytokine levels were compared between the two groups, and their correlations with the recurrence of BRVO-ME after anti-VEGF treatment were analyzed.RESULTS:At 6 months post-treatment, ME resolved in 19 eyes(no recurrence group), while 13 eyes showed persistent or recurrent ME(recurrence group). Compared to baseline, the CMT significantly improved in both groups at 1 d, 1, and 6 mo post-treatment(all P<0.05). However, the recurrence group exhibited significantly higher baseline, 1 d and 6 mo post-treatment CMT values than the non-recurrence group(all P<0.05). The aqueous humor levels of VEGF and monocyte chemoattractant protein-1(MCP-1)at baseline were significantly higher in the recurrence group than the non-recurrence group(all P<0.05). Spearman correlation analysis revealed positive associations between baseline CMT and interlukin IL-1β, IL-5, IL-12, MCP-1 and IP-10 levels(all P<0.05). Multivariable Logistic regression analysis identified baseline CMT and MCP-1 levels as independent risk factors for BRVO-ME recurrence(OR>1, P<0.05).CONCLUSION: Elevated baseline CMT and aqueous humor MCP-1 levels were identified as independent risk factors for BRVO-ME recurrence after anti-VEGF therapy. Patients exhibiting higher baseline CMT and MCP-1 levels demonstrated significantly increased susceptibility to recurrence.
7.Advancements in the smartification of reproductive health care: examining the utilization and convergence of artificial intelligence technologies in assisted reproduction
Na WANG ; Jing LIU ; Shimin WANG ; Junmei FAN ; Xueqing WU ; Jia ZHAO
Chinese Journal of Reproduction and Contraception 2025;45(2):121-125
Recently, intelligent care is gradually changing the traditional care way, and artificial intelligence (AI) application is gradually broadening in the field of assisted reproduction. This review systematically analyzes the AI application in multiple aspects of reproductive health care. It also indicates the challenge during the process, including data privacy, technical reliability, ethics and legal provisions, and humanistic care. Both the opportunities of AI in assisted reproduction are highlighted and the ensuing problems are analyzed in depth. The purpose is to provide ideas for future studies to ensure that AI technology can be safely, efficiently and responsibly integrated with the field of reproductive health care.
8.Comparison of efficacy of recombinant human interleukin-11 and herombopag olamine tablets on chemotherapy-induced thrombocytopenia in breast cancer
Chao WANG ; Junmei ZHANG ; Peng ZHANG ; Li LIU ; Xiaochun WANG
Tianjin Medical Journal 2025;53(4):365-369
Objective To compare the efficacy of recombinant human interleukin-11(rhIL-11)and herombopag olamine tablets on chemotherapy-induced thrombocytopenia(CIT)in breast cancer.Methods Eighty-six prospectively selected breast cancer patients with CIT were randomly divided into the control group(administered rhIL-11)and the study group(administered herombopag olamine tablets),with 43 cases in each group.Before treatment and 14 days after treatment,platelet parameters[platelet count(PLT),plateletcrit(PCT),platelet distribution width(PDW)and mean platelet volume(MPV)]and flow cytometry were measured by automated hematology analyzer.Cellular immune indicators(CD3+,CD4+,CD8+and CD4+/CD8+)were detected by flow cytometer.Enzyme-linked immunosorbent assay was used to determine the levels of thrombopoietin(TPO)and interleukin-11(IL-11).The above parameters were compared between the two groups,and the incidence of adverse reactions in the two groups was recorded.Results After treatment,PLT,PCT,CD3+,CD4+,CD4+/CD8+,TPO and IL-11 in both groups were higher than before treatment,and which was higher in the study group than the control group(P<0.05).After treatment,PDW,MPV and CD8+of both groups were lower than before treatment,and the study group was lower than the control group(P<0.05).There was no significant difference in the overall incidence of adverse reactions between the two groups(P>0.05).Conclusion Both rhIL-11 and herombopag olamine tablets are effective in treating breast cancer with CIT.Compared with rhIL-11,herombopag olamine tablets have more advantages in improving platelet parameters,cellular immune indicators,TPO and IL-11,and do not increase the adverse reactions.
9.Changes and clinical significance of serum SOCS-1,sTREM-2 and ACLY in patients with pulmonary Klebsiella pneumoniae infection
Xi PENG ; Lili YANG ; Min LIU ; Junmei ZHANG
Tianjin Medical Journal 2025;53(4):397-401
Objective To investigate changes and clinical significance of serum cytokine signaling inhibitor-1(SOCS-1),soluble myeloid triggering receptor-2(sTREM-2)and ATP citrate lyase(ACLY)in patients with pulmonary Klebsiella pneumoniae infection.Methods A total of 100 patients infected with Klebsiella pneumoniae were selected as the infection group,and 70 healthy subjects in our hospital were selected as the control group.According to the pneumonia severity index(PSI)score,patients of the infection group were divided into the severe group(PSI>90,32 cases)and the mild group(PSI≤90,68 cases).The expression levels of SOCS-1,sTREM-2 and ACLY in the infection group and the control group were detected by enzyme-linked immunosorbent assay.Pearson method was used to analyze the relationship between serum levels of SOCS-1,sTREM-2,ACLY and PSI scores in the infection group.Multivariate Logistic regression analysis was performed to analyze factors affecting the disease status of patients with pulmonary Klebsiella pneumoniae infection.The diagnostic value of serum levels of SOCS-1,sTREM-2 and ACLY in patients with Klebsiella pneumoniae infection was analyzed by receiver operating characteristic curve(ROC).Results The levels of white blood cell(WBC)count,procalcitonin(PCT),C-reactive protein(CRP),serum SOCS-1,sTREM-2 and ACLY were higher in the infection group than those in the control group(P<0.01).In infection group,serum levels of SOCS-1,sTREM-2 and ACLY were positively correlated with PSI scores(r=0.419,0.373,0.391,P<0.05).Serum levels of SOCS-1,sTREM-2 and ACLY were higher in the severe group than those in the mild group(P<0.01).The elevated serum SOCS-1,sTREM-2 and ACLY were risk factors for severe disease in patients with pulmonary Klebsiella pneumoniae infection(P<0.05).The areas under the curve(AUC)of SOCS-1,sTREM-2 and ACLY alone and in combination for the diagnosis of severe pulmonary Klebsiella pneumoniae infection were 0.787,0.837,0.847 and 0.929,respectively,and the combined diagnostic efficiency was the highest.Conclusion Serum SOCS-1,sTREM-2 and ACLY are elevated in patients with pulmonary Klebsiella pneumoniae infection,and their expression levels are related to the condition of patients with pulmonary Klebsiella pneumoniae infection.The combined detection of the three is better than testing alone for severe pulmonary Klebsiella pneumoniae infection.
10.Research Progress in the Preparation Process and Pharmacological Effects of 6-Shogaol
Siyi CHENG ; Qing PENG ; Junmei LI ; Ang'ang LI ; Mingqian SUN ; Li LIN ; Shuo MENG ; Jianxun LIU
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(9):180-185
6-Shogaol is an active component of gingerol in zingiber,which can be converted from 6-Gingerol under acidic and heating conditions.Modern research shows that 6-Shogaol has rich pharmacological activities,and it is found that 6-Shogaol has stronger anti-inflammatory,anti-tumor and antioxidant activities than 6-Gingerol.In this article,the preparation technology and pharmacological effects of 6-Shogaol were reviewed,and the extraction and separation methods of 6-Shogaol,as well as the targets and pathways involved in the process of exerting its pharmacological effects,were summarized,which could lay the foundation for the comprehensive development and clinical application of 6-Shogaol.

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