1.Epileptic encephalopathy with movement disorder and arthrogryposis: a case with SCN1A gene variant
Haiqing ZHAO ; Liping ZOU ; Qian LU ; Yangyang WANG ; Shuo DUN ; Qiuhong WANG ; Jia WANG ; Qi ZHANG
Chinese Journal of Neurology 2025;58(3):299-302
The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis (NDEEMA) caused by gain-of-function mutation of the SCN1A gene were reported in this article. The 1-year-and-9-month-old boy started seizures since 2 hours after birth. He had funnel-breast, dislocation of the hip, and bipedal varus. Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val), causing overall gain-of-function effect. The frequency of seizures decreased significantly after treatment of oxcarbazepine.
2.Analysis of the characteristics of Internet addiction in adolescents with depression and its relationship with impulsive and aggressive traits
Ying GAO ; Qingjuan LAI ; Hui WANG ; Qiurong LI ; Tingjuntao NI ; Wanrong LI ; Hanqing ZHAO ; Yue DUN ; Li AN ; Qingjiu CAO
Chinese Journal of Psychiatry 2025;58(7):526-532
Objective:To investigate the characteristics of Internet addiction(IA)in adolescents with depression and explore its relationship with impulsivity and aggressive personality traits.Methods:A total of 71 adolescent patients with depressive disorders were recruited from the Child Psychiatry Outpatient Clinic of Peking University Sixth Hospital between April 2021 and November 2022 (15 males, 56 females; median age 14 [13, 15] years) as the depressive disorder group. Additionally, 83 healthy adolescents (27 males, 56 females; median age 14 [13, 17] years) were recruited as the control group during the same period. Internet addiction was assed using the Chinese version of Young′s Internet Addiction Test (YIAT), with a total score≥50 indicating internet addiction. Impulsivity was evaluated using the Barratt Impulsiveness Scale-11(BIS-11), and aggression was measured with the Buss-Perry Aggression Questionnaire(BPAQ). Differences in internet addiction, impulsivity, and aggression between the depression group and the control group were analyzed. Pearson correlation analysis was used to explore the correlation between internet addiction and impulsivity, aggression. Hierarchical linear regression models were used to analyze the factors influencing internet addiction, and a parallel mediation model was used to examine the mediating effect of impulsivity and aggressive personality traits in the relationship between depressive disorders and internet addiction.Results:The prevalence of IA was significantly higher in adolescents with depression than the healthy control group [57.75%(41/71) vs 31.33%(26/83); χ 2=10.87, P<0.001]. Adolescents with depressive disorders also exhibited higher impulsivity (65.5±9.2 vs 57.0±9.2, t=-5.72, P<0.001) and aggression (56.3±16.0 vs 42.4±15.1, t=-5.13, P<0.001) compared to the control group. Internet addiction was positively correlated with aggression ( r=0.47, P<0.01) and impulsivity ( r=0.57, P<0.01). Hierarchical regression analysis with the YIAT total score as the dependent variable revealed that impulsivity ( β=0.48, P<0.001) and aggression ( β=0.24, P<0.001) significantly predicted internet addiction. Mediation analysis indicated that depressive disorders indirectly indirectly influenced internet addiction through parallel paths of impulsivity and aggression, with a total indirect effect of 0.543 (95% CI: 0.362-0.761). Conversely, internect addiction influenced depressive disorders through reverse parallel pathway of impulsivity and aggression with a total indirect effect of 0.038 (95% CI: 0.021-0.067). Direct effects were not significant in either direction. Conclusion:Adolescents with depressive disorders exhibit more internet addiction. Impulsivity and aggressive personality traits play bidirectional mediating roles in the relationship between depressive disorders and internet addiction.
3.Efficacy of Blinatumomab in the Treatment of Pediatric B-cell Acute Lymphoblastic Leukemia.
Jian WANG ; Ya-Ting ZHANG ; Kai-Mei WANG ; Jian-Pei FANG ; Dun-Hua ZHOU
Journal of Experimental Hematology 2025;33(3):698-705
OBJECTIVE:
To retrospectively analyze the clinical characteristics of 15 children with B-cell acute lymphoblastic leukemia (B-ALL) treated with blinatumomab, and summarize the efficacy and safety of blinatumomab in the treatment of pediatric B-ALL.
METHODS:
Fifteen children who received treatment with blinatumomab from February 2022 to January 2023 were enrolled in this study. One course (28 days) of blinatumomab concurrent with intrathecal chemotherapy was given according to the standard regimen, except for 2 cases who had shortened course of treatment due to hematopoietic stem cell transplantation (HSCT) and did not receive combined intrathecal chemotherapy, and 1 case had a shortened course of treatment due to economic problems. The efficacy and safety of the treatment were evaluated.
RESULTS:
In terms of efficacy, for the children who had achieved complete molecular remission (CMR) before treatment, blinatumomab treatment could effectively maintain CMR status; For the children who did not achieve CMR, the CMR rate after one standard course of treatment with blinatumomab reached 66.7%(4/6); For the children with relapsed/refractory ALL (R/R ALL) who had minimal residual disease (MRD), the MRD clearance rate reached 75.0%(3/4). The statistical results of the incidence of adverse events showed that 13.3%(2/15) of the children did not experience any adverse events. The most common adverse events were cytokine release syndrome (CRS) (73.3%, 11/15) and transaminase elevation (26.7%, 4/15); 33.3%(5/15) of the children experienced grade 3 or higher adverse events. All the adverse events were resolved after symptomatic treatment.The level of IgG decreased significantly after 4-7 weeks of treatment with blinatumomab, and gradually recovered after 8 weeks of treatment.
CONCLUSION
Blinatumomab can be used as a safe and effective treatment for inducing deep remission in pediatric R/R-ALL patients and as a bridge therapy for the pediatric ALL patients who are intolerant to chemotherapy.
Humans
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Antibodies, Bispecific/therapeutic use*
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Child
;
Retrospective Studies
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Female
;
Male
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy*
;
Remission Induction
;
Treatment Outcome
;
Child, Preschool
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Adolescent
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy*
4.Multi spiral CT study on upper airway obstruction characteristics in patients with obstructive sleep apnea hypopnea syndrome
Min LI ; Zewei WANG ; Lingbo MENG ; Juling DUN
Journal of Practical Radiology 2025;41(9):1453-1457
Objective To explore the characteristics of upper airway obstruction on multi spiral computed tomography(MSCT)in patients with obstructive sleep apnea hypopnea syndrome(OSAHS)and their correlation with the disease,as well as to identify key characteristic indicators.Methods Forty-three patients with OSAHS(OSAHS group)and 45 normal controls(control group)were selected.MSCT of the upper airway was performed to analyze the differences in various observation indicators between the two groups,including diameters at levels of upper airway obstruction,soft palate thickness,mandibular plane to hyoid distance(MP-H),oropharyngeal length,air-pharyngeal ratio,and fat infiltration in the tongue base.A multivariate logistic regression model was con-structed to identify the main risk factors,and the receiver operating characteristic(ROC)curve was used to assess the diagnostic per-formance of the model.Results The OSAHS group exhibited smaller diameters at levels of upper airway obstruction and air-pharyn-geal ratio compared to the control group[area:(0.75±0.38)cm2 vs(1.36±0.58)cm2,t=5.855,P<0.001].Additionally,body mass index(BMI),degree of fat infiltration in the tongue base,soft palate thickness,and MP-H were significantly greater in the OSAHS group than those in the control group(soft palate thickness:t=-6.881,P<0.001).Multivariate logistic regression analysis revealed that fat infiltration in the tongue base,soft palate thickness,MP-H,and the area of upper airway obstruction were the main risk factors for OSAHS.The area under the curve(AUC)was 0.940[95%confidence interval(CI)0.868-0.979,P<0.001],indica-ting good diagnostic performance.Conclusion MSCT can effectively evaluate the upper airway obstruction characteristics in patients with OSAHS,with fat infiltration in the tongue base,soft palate thickness,MP-H,and the area of upper airway obstruction as the primary indicators for OSAHS,providing a reference for clinical practice.
5.A mixed method study on in patients′ preferences for an unaccompanied ward
Yu WANG ; Ruijuan WANG ; Yanting DUN ; Lei WANG ; Yingying ZHAO ; Jing QUE ; Qiaofang YANG
Chinese Journal of Hospital Administration 2025;41(6):473-478
Objective:To analyze inpatients preferences for an unaccompanied ward and its influencing factors, for references for the implementation of unaccompanied ward management.Methods:Based on a convergent mixed research design, a convenience sampling method was used to select inpatients who visited a tertiary hospital from June to August 2024 as the survey subjects. A questionnaire survey was conducted on their willingness to choose the unaccompanied ward (provided by medical nursing staff). Meanwhile, using purposive sampling method, 10 inpatients and 11 accompanying family members were selected for semi-structured interviews about unaccompanied ward prference, and the interview topics were summarized and extracted. The results of quantitative and qualitative were compared and integrated.Results:The quantitative research results showed that among the 805 inpatients included, 125 patients (13.03%) chose medical caregivers, 382 patients (39.83%) chose their spouses, and 272 patients (28.36%) chose their children; 411 patients (24.54%) did not choose medical caregivers due to financial burden; 509 patients (63.23%) believed that the cost of an unaccompanied ward should be less than 120 yuan/day. The qualitative research results showed that the interview data formed three themes, including the driving factors of caregiving form selection intention, the emotional tendency of caregiving form selection intention, and the assessment of the benefits and drawbacks of caregiving form selection intention. The mixed research results showed that the majority of inpatients choose their spouse or children accompany them, and their willingness to choose medical caregivers is mainly influenced by service costs and family labor. However, its did not affect patients who are young or have difficulty caring for them; Influenced by traditional Chinese culture, patients tended to choose relatives to accompany them; The main reasons why patients did not choose unaccompanied wards were the economic burden and the mismatch between medical nursing staff services and their expectations.Conclusions:Inpatients tended to choose family members to accompany them. Their willingness to choose unaccompanied ward was influenced by economic burden, family labor, patient age, caregiving difficulty, and filial piety culture.
6.Ferroptosis contributes to immunosuppression.
Nina HE ; Dun YUAN ; Minjie LUO ; Qing XU ; Zhongchi WEN ; Ziqin WANG ; Jie ZHAO ; Ying LIU
Frontiers of Medicine 2025;19(1):1-22
As a novel form of cell death, ferroptosis is mainly regulated by the accumulation of soluble iron ions in the cytoplasm and the production of lipid peroxides and is closely associated with several diseases, including acute kidney injury, ischemic reperfusion injury, neurodegenerative diseases, and cancer. The term "immunosuppression" refers to various factors that can directly harm immune cells' structure and function and affect the synthesis, release, and biological activity of immune molecules, leading to the insufficient response of the immune system to antigen production, failure to successfully resist the invasion of foreign pathogens, and even organ damage and metabolic disorders. An immunosuppressive phase commonly occurs in the progression of many ferroptosis-related diseases, and ferroptosis can directly inhibit immune cell function. However, the relationship between ferroptosis and immunosuppression has not yet been published due to their complicated interactions in various diseases. Therefore, this review deeply discusses the contribution of ferroptosis to immunosuppression in specific cases. In addition to offering new therapeutic targets for ferroptosis-related diseases, the findings will help clarify the issues on how ferroptosis contributes to immunosuppression.
Ferroptosis/immunology*
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Humans
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Immune Tolerance/immunology*
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Animals
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Immunosuppression Therapy
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Iron/metabolism*
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Neoplasms/immunology*
7.Study on the Role of Nrf2/SLC7A11/GPX4 Signaling Pathway in the Pathogenesis of Ischemic Stroke and Research Progress on Traditional Chinese Medicine Intervention Based on Ferroptosis
Dacheng WEI ; Linglu DUN ; Changjun LU ; Hongwei AN ; Man WANG ; Qichao YE ; Hanchi LIANG
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1825-1830
Ischemic stroke is a disease resulting from the cerebral ischemia and hypoxia caused by the blockage of brain vessels in the brain,and is characterized by the focal neurological signs.Pathologically,neuronal necrosis in the infarcted area and the neuronal degeneration or delayed death of neurons in the ischemic penumbra,contribute to the morphological basis of the disease.Ischemic stroke is regulated by multiple processes,including ferroptosis,apoptosis,and autophagy.Ferroptosis,a type of iron-dependent cell death,is closely associated with ischemic stroke.Nuclear factor erythroid 2-related factor 2(Nrf2),a key transcription factor,plays a critical role in maintaining cellular redox balance and regulating inflammatory responses.Nrf2 promotes the expression of solute carrier family 7 member 11(SLC7A11)and glutathione peroxidase 4(GPX4),thereby activating the Nrf2 signaling pathway to counteract ferroptosis and protect cells from damage.This article reviews and analyzes recent experimental studies on traditional Chinese medicine(TCM)therapy targeting the Nrf2/SLC7A11/GPX4 pathway to suppress ferroptosis.The studies have found that TCM therapy with herbal compounds,Chinese patent medicines,single herbal components and their active ingredients,and acupuncture and moxibustion can inhibit ferroptosis by activating the Nrf2/SLC7A11/GPX4 signaling pathway,which will provide novel strategies for the TCM intervention of ischemic stroke.
8.Clinical Efficacy of Acupuncture Combined With Acupoint Patching in Treating Chronic Pelvic Pain as a Sequela of Pelvic Inflammatory Disease
Juyan DUN ; Fen WANG ; Liying TIAN
Journal of Sichuan University (Medical Sciences) 2025;56(3):672-677
Objective To investigate the efficacy of acupuncture therapy combined with acupoint patching in alleviating chronic pelvic pain,a sequela of pelvic inflammatory disease(SPID-CPP).Methods A total of 120 SPID-CPP patients attending our hospital between January 2022 and November 2024 were enrolled and randomly assigned to either an experimental group or a control group,with 60 patients in each group.Both groups received conventional lifestyle guidance and anti-infection therapy.The control group received only acupuncture therapy,while the observation group received acupuncture combined with acupoint patching therapy.The duration of treatment was identical for both groups.The treatment effect,levels of high-sensitivity C-reactive protein(hs-CRP),white blood cell count(WBC),neutrophil percentage(NEUT),fibrinogen(FIB)level,quality-of-life scores,and visual analog scale(VAS)pain scores were compared between the experimental and control groups.Results The treatment efficacy rate of the experimental group was 93.00%,while that of the control group was only 73.33%,and the difference between the two groups was statistically significant(P<0.05).Following therapy,the hs-CRP,WBC,NEUT,and VAS ratings of both the control and experimental groups decreased.Furthermore,findings of the experimental group were significantly lower than those of the control group(P<0.05).The quality-of-life score of the experimental group was higher than that of the control group(P<0.05).Conclusion Acupuncture combined with acupoint patching demonstrates significant efficacy in treating SPID-CPP.This combined therapy effectively reduces pain in SPID-CPP patients,decreases serum levels of inflammatory factors,and significantly improves patients'quality of life.
9.Application of Posterior Quadratus Lumborum Block in Laparoscopic Myomectomy
Liwei WANG ; Yuanli DUN ; Yao YAO ; Changyi WU ; Kun ZHANG ; Yinyin QU
Chinese Journal of Minimally Invasive Surgery 2025;25(2):75-80
Objective To explore the safety and feasibility of posterior quadratus lumborum block(PQLB)in patients undergoing laparoscopic myomectomy.Methods A retrospective analysis was conducted on clinical data of 62 gynecological patients who underwent laparoscopic myomectomy from July 2021 to July 2024.The patients were divided into two groups based on the preoperative blocking method:the PQLB group and the transversus abdominis plane block(TAP)group,with 31 patients in each group.In the PQLB group,bilateral PQLB was performed under ultrasound guidance with 20 ml of 0.35%ropivacaine on each side.In the TAP group,bilateral transversus abdominis plane blocks were performed under ultrasound guidance with 20 ml of 0.4%or 0.5%ropivacaine on each side.The mean arterial pressure and heart rate were recorded before anesthesia(T0),at the time of the block(T1),at skin incision(T2),and during the recovery period(T3).The local anesthetic toxicity,nerve injury,intraoperative opioid consumption,postoperative remedial analgesic usage and dosage,as well as the incidence of nausea and vomiting,were monitored.Results The operations were successfully completed in all the 62 patients.No significant differences were observed between the two groups in mean arterial pressure(F=0.323,P=0.572)and heart rate(F=0.195,P=0.660)at 4 different time points.There were no significant differences in the dosage of anesthetic analgesics during surgery(Z=-0.458,P=0.647)and length of hospital stay(Z=-1.652,P=0.099)between the two groups.The postoperative remedial analgesic usage rate in the PQLB group was significantly lower than that in the TAP group(32.3%vs.74.2%,x2=10.949,P=0.000).Within 48 h after operation,the use of non-steroidal anti-inflammatory drugs(NSAIDs)dosage in the PQLB group was significantly lower than that in the TAP group[0(0,0)mg vs.400(0,1600)mg,Z=-4.849,P=0.000],and no significant difference was observed between the two groups in the use of opioid(tramadol)dosage(Z=-0.045,P=0.964).There was no significant difference in the incidence of postoperative nausea and vomiting(P>0.05).The scores of numeric rating scale for abdomial wall pain and visceral pain in the PQLB group at 12 and 24 h after surgery did not exceed 3 points.No local anesthetic toxicity or nerve injury was observed.Conclusion PQLB provides effective analgesia for patients undergoing laparoscopic myomectomy,offering better control of visceral pain,helping reduce intraoperative opioid consumption,and lowering the risk of postoperative adverse reactions.
10.Applied anatomical study on the positional relationships among buccal branch of facial nerve,parotid duct and facial artery
Bo-jing ZHANG ; Feng-ying LU ; Xin-yang LI ; Liang-xian WANG ; Ai-she DUN
Journal of Regional Anatomy and Operative Surgery 2025;34(5):386-390
Objective By observing and measuring the relevant data of the buccal branch of the facial nerve,the parotid duct and the facial artery,the positional relationship among the three was analyzed to avoid accidental injury to the buccal branch of the facial nerve and the parotid duct when ligaturing the facial artery during the operation.Methods Forty adult head and neck specimens were dissected to observe the relationship between the buccal branch of the facial nerve and the parotid duct,the course and positional relationship of the facial artery,and the relationship between the buccal branch of the facial nerve and the peripheral vascular network.The relevant diameters were measured with a vernier caliper.Results The buccal branch of the facial nerve was divided into the superior buccal branch and the inferior buccal branch,and there was no direct anastomosis or connecting fiber between the buccal branch of the facial nerve and the parotid duct.The superior buccal branch was relatively thick,and it has a relatively constant position,which was parallel to the parotid duct.The position of the inferior buccal branch was not constant and it ran on or slightly above the plane of angulus oris.The superior buccal branch was located(10.76±5.54)mm from the parotid duct,while the inferior buccal branch was positioned(6.84±4.06)mm away from the parotid duct.The course of the main trunk of the facial artery was relatively fixed.Moreover,if the branch of the facial artery was missing,other branches of the facial artery would extend to replace the missing branch artery.The main trunk of the facial artery had a diameter of(2.34±0.83)mm,and its branches formed anastomoses with the buccal branch of the maxillary artery,creating a vascular network in the parotid and buccal regions.There was a vascular network around the buccal branch of the facial nerve,which was mostly small branches of the facial artery and the superficial temporal artery.Conclusion The buccal branch of the facial nerve exhibits a consistent anatomic relationship with the parotid duct and the facial artery.During the ligation of the facial artery,the parotid duct can serve as a landmark to accurately locate the buccal branch of the facial nerve,thereby significantly reducing the risk of inadvertent injury to the buccal branch of the facial nerve and the parotid duct.

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