1.Clinical features and prognosis of patients with primary sclerosing cholangitis:An analysis of 107 cases
Tongtong MENG ; Weijia DUAN ; Xinyu LI ; Junqi NIU ; Huiguo DING ; Ying HAN ; Wen XIE ; Lu ZHOU ; Bangmao WANG ; Liping GUO ; Jie LI ; Bei JIA ; Lingyi ZHANG ; Liang WANG ; Xiaoqian XU ; Yu WANG ; Xiaojuan OU ; Xinyan ZHAO ; Hong YOU ; Jidong JIA ; Yuanyuan KONG
Journal of Clinical Hepatology 2025;41(7):1337-1343
Objective To describe the clinical features of patients with primary sclerosing cholangitis(PSC)in China based on a nationwide multicenter patient cohort,and to investigate the risk factors for prognosis.Methods A retrospective cohort study was conducted among the patients with a confirmed diagnosis of PSC based on the electronic medical record system of seven grade A tertiary hospitals across the country,and related data were extracted.The Mann-Whitney U test was used for comparison of continuous data between groups,and the chi-square test was used for comparison of categorical data between groups.The Kaplan-Meier method was used to estimate liver transplant-free survival,and the log-rank test was used for comparison of survival rate between PSC patients with different features.The Cox regression model was used to identify independent risk factors for the prognosis of PSC patients and the interactions between key factors.Results A total of 107 patients were enrolled,among whom 55.6%(55/99)had large-duct PSC and 29.0%(31/107)had comorbidity with inflammatory bowel disease(IBD).The positivity rate of anti-neutrophil cytoplasmic antibody(ANCA)was 32.9%(24/73),and 50.0%(40/80)of the patients had an increase in IgG/IgM.The median symptom-to-diagnosis interval was 1 year(<1-4.0),and 38.3%(41/107)of the patients had progressed to decompensated cirrhosis at the time of diagnosis.The median liver transplant-free survival time was 114 months(95%confidence interval[CI]:62-166),with a 5-year survival rate of 65.7%.The multivariate analysis showed that an increase in total bile acid(TBA)(hazard ratio[HR]=1.006,95%CI:1.002-1.010,P=0.001)and a prolonged symptom-to-diagnosis interval(HR=1.252,95%CI:1.059-1.480,P=0.009)were independent risk factors for prognosis.The interaction analysis showed that compared with the female patients with TBA<50 μmol/L,both male and female patients with TBA≥50 μmol/L had a significant increase in the risk of liver transplantation or death(male:HR=16.563,95%CI:2.103-130.449,P<0.001;female:HR=17.009,95%CI:2.113-136.934,P<0.001),and compared with the patients with an age of<45 years and a TBA level of<50 μmol/L,the patients with an age of≥45 years and a TBA level of≥50 μmol/L had a significant increase in the risk of liver transplantation or death(HR=10.729,95%CI:1.325-86.859,P=0.026).Compared with the female patients with an symptom-to-diagnosis interval of≤2 years,the male patients with a symptom-to-diagnosis interval of>2 years had an increased risk of liver transplantation or death(HR=4.825,95%CI:1.725-13.644,P=0.003),and compared with the patients with an age of<45 years and a symptom-to-diagnosis interval of≤2 years,the patients with an age of<45 years and a symptom-to-diagnosis interval of>2 years had an increased risk of liver transplantation or death(HR=4.983,95%CI:1.366-18.173,P=0.015).Conclusion Compared with the reports from Western countries,large-duct PSC is also the main type of PSC in China,but with a relatively low proportion,and there is also a relatively low proportion of patients with IBD or positive ANCA.An increase in TBA and a prolonged symptom-to-diagnosis interval are independent risk factors for prognosis,with significant interactions with age and sex.This suggests that early screening and intervention should be enhanced to improve prognosis.
2.Surveillance and analysis of etiology of viral diarrhea in children under five years old in Baotou city
Xiaojuan CHEN ; Yaoxing LIU ; Jingxian PENG ; Yingbo XIE ; Min GUO ; Jingyi LU ; Men WANG ; Rong JIN
Chinese Journal of Microbiology and Immunology 2025;45(6):507-511
Objective:To investigate the epidemiological trends of viral diarrhea pathogens in children in Baotou city, and to provide reference for controlling the prevalence of viral diarrhea and guiding the development of regional vaccines.Methods:Fecal samples were collected from children under five years old hospitalized with viral diarrhea at two sentinel hospitals in Baotou from June 2023 to May 2024. Real-time PCR was used to detect group A rotavirus, norovirus, adenovirus, and astrovirus. Statistical analysis was performed using SPSS 20.0 software, with Chi-square tests conducted to assess differences. A P value<0.05 was considered statistically significant. Results:A total of 246 fecal samples were collected, including 153 from males and 93 from females. Among these, 135 samples tested positive, yielding a positivity rate of 54.88% (135/246). There were 82 positive samples from male children and 53 from female children, with no significant difference between genders. Most positive samples (51.85%, 70/135) tested positive for two viruses. Specifically, co-infections of group A rotavirus with norovirus or adenovirus accounted for 98.57% (69/70) of all co-infected cases. Significant differences in detection rates were observed across age groups (χ 2=29.803, P<0.001), with the highest positivity rates in children under one year old and in the 1-year age group. Seasonality, viral diarrhea in Baotou was more prevalent in winter and spring. The G8P[8] genotype of group A rotavirus was the predominant strain. Conclusions:From June 2023 to May 2024, viral diarrhea in hospitalized children under five years old in Baotou is primarily caused by co-infections of group A rotavirus and norovirus, with a higher incidence in preschool-aged children. The G8P[8] genotype of group A rotavirus is the dominant strain. It is recommended to strengthen vaccination and surveillance efforts for viral diarrhea in preschool children, particularly during the winter and spring seasons.
3.Knowledge, attitude and practice investigation of severe fever with thrombocytopenia syndrome among residents in epidemic areas in Qingdao
Lin LI ; Jingmin XIE ; Xiaowen WANG ; Xiaojuan GONG ; Xiaodong ZHANG ; Xinlei BI ; Changmin SHENG ; Jing JIA
Chinese Journal of Experimental and Clinical Virology 2025;39(2):162-168
Objective:To understand the knowledge, attitudes, and behaviors of residents in areas endemic for severe fever with thrombocytopenia syndrome (SFTS) and the factors influencing these aspects, to provide a scientific basis for the prevention and control of SFTS among residents in endemic areas.Methods:A multi-stage sampling method was used to select subjects for a questionnaire survey, and the collected data were analyzed and compared.Results:The awareness rate of SFTS-related knowledge among residents in the endemic areas of Qingdao was 14.38%, while the awareness rate of tick-related knowledge was 69.78%. The mean score for protective attitudes among residents in the endemic areas was 24.50±4.09, and the mean score for protective behaviors was 11.20±2.76. Among residents of different ages, occupations, and educational levels, comparisons of SFTS-related knowledge awareness rates ( χ2=293.553, P<0.001; χ2=495.216, P<0.001; χ2=677.272, P<0.001), tick-related knowledge awareness rates ( χ2=29.986, P<0.001; χ2=23.239, P=0.002; χ2=41.003, P<0.001), protective attitude scores ( H=52.094, P<0.001; H=33.446, P<0.001; H=81.715, P<0.001), and protective behavior scores ( H=52.344, P<0.001; H=28.465, P<0.001; H=67.061, P<0.001) showed statistically significant differences. Comparisons of these same factors among residents of different genders showed no statistically significant differences ( χ2=1.159, P=0.282; χ2=0.298, P=0.585; t=-0.808, P=0.419; t=-1.229, P=0.219). Comparisons of tick-related knowledge awareness rates among residents with different frequencies of outdoor work showed no statistically significant differences ( χ2=5.367, P=0.147); however, comparisons of SFTS-related knowledge awareness rates, protective attitude scores, and protective behavior scores among residents with different frequencies of outdoor work showed statistically significant differences ( χ2=117.010, P<0.001; F=4.127, P=0.006; H=56.280, P<0.001). Multivariate linear regression analysis revealed that older age, lower educational level, and less frequent outdoor work were associated with lower protective behavior scores ( t=-3.479, P<0.001; t=4.861, P<0.001; t=-7.753, P<0.001). Conclusions:Residents in the epidemic areas of SFTS have a low level of knowledge, attitude and practice. Factors influencing protective behaviors include age, occupation, educational level, and frequency of outdoor work. Farmers are a group that requires particular attention.
4.Correlation analysis between mechanical power normalized to dynamic lung compliance and weaning outcomes and prognosis in mechanically ventilated patients: a prospective, observational cohort study.
Yao YAN ; Yongpeng XIE ; Zhiqiang DU ; Xiaojuan WANG ; Lu LIU ; Meng LI ; Xiaomin LI
Chinese Critical Care Medicine 2025;37(1):36-42
OBJECTIVE:
To explore the correlation between mechanical power normalized to dynamic lung compliance (Cdyn-MP) and weaning outcomes and prognosis in mechanically ventilated patients.
METHODS:
A prospective, observational cohort study was conducted. Patients who underwent invasive mechanical ventilation (IMV) for more than 24 hours and used a T-tube ventilation strategy for extubation in the intensive care unit (ICU) of Lianyungang First People's Hospital and Lianyungang Second People's Hospital between January 2022 and December 2023 were enrolled. The collected data encompassed patients' baseline characteristics, primary causes of ICU admission, vital signs and laboratory indicators during the initial spontaneous breathing trial (SBT), respiratory mechanics parameters within the 4-hour period prior to the SBT, weaning outcomes and prognostic indicators. Mechanical power (MP) and Cdyn-MP were calculated using a simplified MP equation. Univariate and multivariate Logistic regression analyses were utilized to determine the independent risk factors associated with weaning failure in patients undergoing mechanical ventilation. Restricted cubic spline (RCS) analysis and Spearman rank-sum test were employed to investigate the correlation between Cdyn-MP and weaning outcomes as well as prognosis. Receiver operator characteristic curve (ROC curve) was constructed, and the area under the ROC curve (AUC) was computed to evaluate the predictive accuracy of Cdyn-MP for weaning outcomes in mechanically ventilated patients.
RESULTS:
A total of 366 patients undergoing IMV were enrolled in this study, with 243 cases classified as successful weaning and 123 cases classified as failed weaning. Among them, 23 patients underwent re-intubation within 48 hours after the successful withdrawal of the first SBT, non-invasive ventilation, or died. Compared with the successful weaning group, the patients in the failed weaning group had significantly increased levels of sequential organ failure assessment (SOFA) score, body temperature and respiratory rate (RR) during SBT, and respiratory mechanical parameters within the 4-hour period prior to the SBT [ventilation frequency, positive end-expiratory pressure (PEEP), platform pressure (Pplat), peak inspiratory pressure (Ppeak), dynamic driving pressure (ΔPaw), fraction of inspired oxygen (FiO2), MP, and Cdyn-MP], dynamic lung compliance (Cdyn) was significantly reduced, and duration of IMV, ICU length of stay, and total length of hospital stay were significantly prolonged. However, there were no statistically significant differences in age, gender, body mass index (BMI), smoking history, main causes of ICU admission, other vital signs [heart rate (HR), mean arterial pressure (MAP), saturation of peripheral oxygen (SpO2)] and laboratory indicators [white blood cell count (WBC), albumin (Alb), serum creatinine (SCr)] during SBT of patients between the two groups. Univariate Logistic regression analysis was conducted, and variables with P < 0.05 and no multicollinearity with Cdyn-MP were selected for inclusion in the multivariate Logistic regression model. The results demonstrated that SOFA score [odds ratio (OR) = 1.081, 95% confidence interval (95%CI) was 1.008-1.160, P = 0.030], and PEEP (OR = 1.191, 95%CI was 1.075-1.329, P = 0.001), FiO2 (OR = 1.035, 95%CI was 1.006-1.068, P = 0.021) and Cdyn-MP (OR = 1.190, 95%CI was 1.086-1.309, P < 0.001) within the 4-hour period prior to the SBT were independent risk factors for weaning failure in patients undergoing IMV. The RCS analysis after adjusting for confounding factors showed that as Cdyn-MP within the 4-hour period prior to the SBT increased, the risk of weaning failure in patients undergoing IMV significantly increased (P < 0.001). The Spearman rank correlation test showed that Cdyn-MP within the 4-hour period prior to the SBT was positively correlated with respiratory mechanical parameters including ΔPaw and MP (r values were 0.773 and 0.865, both P < 0.01), and negatively correlated with Cdyn (r = -0.587, P < 0.01). Cdyn-MP within the 4-hour period prior to the SBT was positively correlated with prognostic indicators such as duration of IMV, length of ICU stay, and total length of hospital stay (r values were 0.295, 0.196, and 0.120, all P < 0.05). ROC curve analysis demonstrated that, within the 4-hour period preceding the SBT, Cdyn-MP, MP, Cdyn, and ΔPaw possessed predictive value for weaning failure in patients undergoing IMV. Notably, Cdyn-MP exhibited superior predictive capability, evidenced by an AUC of 0.761, with a 95%CI ranging from 0.712 to 0.810 (P < 0.001). At the optimal cut-off value of 408.5 J/min×cmH2O/mL×10-3, the sensitivity was 68.29%, and the specificity was 71.19%.
CONCLUSION
Cdyn-MP is related to weaning outcomes and prognosis in mechanically ventilated patients, and has good predictive ability in assessing the risk of weaning failure.
Humans
;
Prospective Studies
;
Ventilator Weaning
;
Prognosis
;
Respiration, Artificial
;
Intensive Care Units
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Lung Compliance
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Female
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Male
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Middle Aged
;
Aged
5.Analysis of Vaginal Microflora Examination Results in 19322 Initial Visit Infertil-ity Women
Zhenhua CHANG ; Shuwei YAN ; Xiaoyan REN ; Baohua MIN ; Xiaojuan XIE ; Zhenhua LU ; Sanhua WEI
Journal of Practical Obstetrics and Gynecology 2025;41(7):563-567
Objective:To investigate the characteristic distribution of vaginal microbiota in infertile women.Methods:We collected the results of vaginal microbiological examinations from 19322 initial visit infertile women who visited the Reproductive Medicine Center of the Department of Obstetrics and Gynecology,the Second Affili-ated Hospital of Air Force Medical University from March 1,2023 to July 31,2024.The vaginal microbiota infection status of patients was compared in different age groups(<25 years old,25-<30 years old,30-<35 years old,35-<40 years old,≥40 years old)and different seasons(spring,summer,autumn,winter).Results:①Among 19322 women,6027 cases(31.19%)showed abnormal vaginal microecology.Pathogenic microorganisms were detected in 3093 cases,including 2882 cases of single vaginitis,211 cases of mixed vaginitis,3764 cases with vagi-nal cleanliness grade Ⅲ-Ⅳ,and 3965 cases with abnormal lactobacilli.Among patients with single vaginitis,1349 cases(46.81%)were diagnosed with vulvovaginal candidiasis(VVC),which was the highest proportion.Aerobic vaginitis(AV)followed with 752 cases(26.09%),and bacterial vaginosis(BV)had 671 cases(23.28%),trichomonal vaginitis(TV)with 110 cases(3.82%).Among patients with mixed vaginitis,AV+BV was the most common with 96 cases(45.49%).②The detection rates of cleanliness grade Ⅲ-Ⅳ,abnormal lactobacilli,abnor-mal microorganisms(unclear pathogen),single vaginitis(BV,VVC and TV),and mixed vaginitis showed statisti-cally significant differences across different seasons(P<0.05).Specifically,the detection rates of cleanliness grade Ⅲ-Ⅳ and abnormal microorganisms(unclear pathogens)were significantly higher in autumn than in other seasons(P<0.05),while the detection rate of abnormal lactobacilli was higher in spring than in other seasons(P<0.05).③The detection rates of abnormal lactobacilli,abnormal microorganisms(unclear pathogen),single vaginitis(BV,VVC and AV),and mixed vaginitis showed significant differences among different age groups(P<0.05).Specifically,the detection rate of abnormal microorganisms(unclear pathogen)was higher in the age group<25 years than in other age groups(P<0.05),while the detection rate of BV among single vaginitis cases was higher in the age group≥40 years than in other age groups(P<0.05).Conclusions:The vaginal microecol-ogy of infertile women varies in terms of infection rates across different age groups and seasons.Patients with simple vaginitis have the highest rate of VVC,while those with mixed vaginitis have the highest proportion of AV+BV infection.
6.Correlation between skeletal muscle mass index and islet β cell reserve function in patients with newly diagnosed type 2 diabetes mellitus
Yalei FAN ; Guirong BAI ; Bingqian DING ; Xindu LI ; Tingting ZHU ; Juan HE ; Xiaojuan ZHANG ; Xiaomin XIE
Chinese Journal of Diabetes 2025;33(3):200-204
Objective To investigate the correlation between skeletal muscle mass index(ASMI)and islet β cell reserve function in patients with newly diagnosed type 2 diabetes mellitus(T2DM).Methods A total of 100 patients with newly diagnosed T2DM were included in this study.All the patients were admitted to the Department of Endocrinology in the First People's Hospital of Yinchuan between June 2022 and November 2023.They were divided into two groups according to their skeletal muscle mass index(ASMI):patients with T2DM accompanied by sarcopenia(Sar,n=50)group,and patients with simple T2DM(T2DM,n=50)group.Additionally,a control(NC)group consisting of 50 healthy participants was selected.Fasting C-peptide levels,liver and kidney function,blood lipid profiles,and other indicators were assessed in all the individuals.The correlation between ASMI and other indicators was analyzed,and the influencing factors for ASMI and T2DM combined with sarcopenia were analyzed respectively.Results The levels of HbA1c,FPG,and TG were higher,while FC-P and Scr levels were lower in the T2DM group and Sar group compared with the NC group(P<0.05).FPG was higher,while ASMI,FC-P,BMI were lower in the Sar group than in the T2DM group(P<0.05).Spearman correlation analysis revealed a negative correlation between ASMI and FPG and HbA1c(P<0.05),whereas a positive correlation was observed with BMI,ALT,Scr,SUA and FC-P(P<0.05).Multiple linear regression analysis indicated that BMI,HbA1c and FC-P were influencing factors for ASMI(P<0.05).Furthermore,logistic regression analysis demonstrated that BMI,HbA1c,FC-P were influencing factors for T2DM with sarcopenia(P<0.05).Conclusions The level of ASMI may be related to the reserve function of islet β cells.
7.Study on the current situation and influencing factors of uncivilized behavior in workplace encountered by nurses in Xianyang City
Li WANG ; Hui FAN ; Xiaojuan WANG ; Xuexue XIE ; Zhenfeng LIU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(1):58-61
Objective:To investigate the current situation of uncivilized behavior in workplace encountered by nurses in Xianyang City, and analyze its influencing factors, so as to provide a basis for formulating corresponding intervention measures.Methods:In May 2023, convenience sampling was used to investigate the general information, current situation of uncivilized behavior in workplace and coping style of 1310 nurses in 8 secondary and tertiary general hospitals in Xianyang City by using the general information questionnaire, the Chinese version of the Nurse Incivility Scale and the Simplified Coping Style Questionnaire. Multiple linear regression analysis was used to analyze the influencing factors of uncivilized behavior encountered by nurses.Results:A total of 1285 valid questionnaires were collected, with an effective recovery rate of 98.09%. The total score of uncivilized behavior encountered by nurses was (86.41±22.49) points. Among them, the scores of five dimensions were nurses' uncivilized behavior (19.95±4.70) points, patients' uncivilized behavior (23.66±8.96) points, supervisors' uncivilized behavior (13.25±4.87) points, doctors' uncivilized behavior (14.32±5.63) points and colleagues' uncivilized behavior (15.23±4.93) points. The multiple linear regression analysis results showed that the hospital level and coping style were the significant influencing factors of uncivilized behavior in workplace encountered by nurses ( β=0.104, 0.056; P<0.05) . Conclusion:The current situation of uncivilized behavior in workplace encountered by nurses needs to be improved. Hospital managers should focus on coping styles, such as setting up simulation scene exercises, team cooperation training, training and counseling, so as to reduce the uncivilized behavior in workplace encountered by nurses.
8.The latest research progress and application prospects of aging animal models
Zhigang FAN ; Jiamei XIE ; Xiaojuan HAN
Acta Laboratorium Animalis Scientia Sinica 2025;33(10):1513-1521
Aging is an inevitable biological process in organisms,accompanied by the decline of multiple physiological functions and increased risk of diseases.With the intensification of global aging,the research associated with mechanisms and the development of anti-aging drugs have become critical topics in the biomedical field.Aging animal models are pivotal tools for investigating aging mechanisms and developing anti-aging interventions.Model organisms commonly used in aging research include nematodes(Caenorhabditis elegans),fruit flies(Drosophila melanogaster),mice(Mus musculus),rats(Rattus norvegicus),naked-mole-rats(e.g.,Heterocephalus glaber),and rhesus macaques(Macaca mulatta).Considering experimental costs and time constraints,mice represent the most extensively employed mammalian model.Under standard housing conditions,mice develop aging phenotypes at approximately 18 months of age,Resultsing in lengthy and costly experimental timelines.To accelerate research,scientists have established diverse progeroid mouse models through genetic,pharmacological,and environmental interventions.Given the tissue-specific heterogeneity of aging,distinct progeria models are required to investigate aging mechanisms across different organ systems.Notably,each model exhibits unique advantages and limitations in mimicking human aging phenotypes,screening therapeutic targets,and evaluating anti-aging compounds.This review comprehensively examines morphological,physiological,and pathological variations among established progeria models,delineates their context-dependent applications and inherent constraints,and provides a systematic framework for model selection in fundamental aging research and translational geroscience,with perspectives on future method ological developments.
9.Effect of Prophyromonas gingivalis on the Occurrence of PND in Mice via TLR4/NF-κB Signaling Pathway
Xiaojuan XIE ; Shuang ZHANG ; Xiaozhi BAI
Acta Medicinae Universitatis Scientiae et Technologiae Huazhong 2025;54(4):483-490
Objective To investigate whether Porphyromonas gingivalis(Pg)in the oral cavity can influence the occurrence of perioperative neurocognitive disorder(PND)by modulating the TLR4/NF-κB signaling pathway.Methods In cell experi-ment,BV-2 cells in the logarithmic growth phase were randomly divided into two groups:the control group(Group C)and the LPS-Pg-treatedgroup(Group P).Western blot was used to detect the expression levels of signaling proteins(TLR4,NF-κB p65,NLRP3,TNF-α)in cellular proteins.Immunofluorescence assay was employed to observe thechanges in NF-κB p65 expres-sions inside and outside the nucleus.In animal experiments,C57BL/6 mice were randomly divided into six groups:the control group(Group C),the surgery group(Group S),the Pg infection group(Group P),the Pg infection+surgery group(Group PS),the TLR4inhibitor group(Group T),and the Pg infection+surgery+TLR4 inhibitor group(Group PST).After corresponding treatments,the Morris water maze(MWM)test was applied to observe theeffects of Pg infection on postoperativecognitive be-havior in mice.Immunohistochemical analysis was used to assess the impact of Pg infection on the activation of microglia in the hippocampal tissue of mice.Results In cell experiment,compared with Group C,expression levels of TLR4,NLRP3,and TNF-α increased significantly in Group P(all P<0.05).The expression of NF-κB p65 in the nucleus increased(P<0.05),while its expression outside the nucleus decreased(P<0.05).Immunofluorescence results showed increased NF-κB expression and its translocation into the nucleus in Group P.As for animal experiment,no significant difference was observed in the preoperative training phase among the groups in Morris water maze experiment,with similar escape latencies and average swimming speeds(all P>0.05).Therefore,therewas no notabledifferences in navigationand swimming abilities among thegroups before theex-periment.In the postoperative testing phase,compared with Group C,the target quadrant time and platform-crossing times were less in mice of Group S and Group PS(all P<0.05).Compared with Group PS,the target quadrant time and platform-crossing times were elevated in mice of Group PST(both P<0.05).Compared to Group C and Group PST,number of positive cells in hippocampal tissue was higher in Group PS.These positivecells exhibited enlarged somas,shortened processes,and an activated state of microglia.Conclusion Pg infection induces enhanced central nervous system inflammation during the perioperative peri-od in mice,leading to the occurrence of PND,possibly through the activation of the TLR4/NF-κB signaling pathway.
10.Clinical manifestations of medically refractory hereditary movement disorders in children and efficacy of deep brain stimulation
Lifang DAI ; Tinghong LIU ; Feng ZHAI ; Anna ZHOU ; Qiuhong WANG ; Zihang XIE ; Xiaojuan TIAN ; Xu WANG ; Shuli LIANG ; Hui XIONG ; Changhong DING
Chinese Journal of Applied Clinical Pediatrics 2025;40(7):526-532
Objective:To investigate the clinical manifestations of medically refractory hereditary movement disorders in children and the efficacy of deep brain stimulation (DBS).Methods:A case series study.The clinical and follow-up data of 20 children with medically refractory hereditary movement disorders who underwent DBS treatment at the Neurology and Functional Neurosurgery Departments of Beijing Children′s Hospital, Capital Medical University, from July 2018 to April 2024, were retrospectively analyzed.The severity of movement disorder symptoms and surgical effects were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale Movement(BFMDRS-M) or the Unified Parkinson′s Disease Rating Scale Ⅲ(UPDRS Ⅲ).Results:There were 12 males and 8 females among the 20 children, with an onset age ranging from 4 months to 12 years and 5 months.Fourteen patients had hereditary dystonia, which is related to KMT2B in 11 patients, TOR1A in 2 patients and SGCE in 1 patient.Two patients had choreoathetosis, which is related to ADCY5-related familial movement disorders.Two patients had early-onset Parkinson′s disease, which is related to ATP6AP2 in 1 patient and VPS13C in 1 patient.Two patients had neurodevelopmental disorders with involuntary movements, which is related to GNAO1 in 1 patient, and the other patient was idiopathic.All the children were given oral Levodopa, Benzhexol, Baclofen, Tiapride Hydrochloride, Clonazepam alone or in combination.Three children showed obvious dyskinesia after Levodopa treatment.The symptoms of movement disorders in all children exhibited little to no improvement.Levetiracetam and Zonisamide had unstable effects in the treatment of myoclonia.DBS surgery was performed on all the patients aged from 3 to 16 years.Electrodes were successfully inserted into bilateral globus pallidus internus in 14 cases and bilateral subthalamic nuclei in 4 cases.The target was unknown in 2 cases.No surgery-related complications were observed.The patients were followed up for 3 months to 6 years, and the last follow-up age of the patients ranged from 5 years and 7 months to 22 years and 1 month.The rate of improvement in BFMDRS-M score was 37%-100% in 16 patients and >70% in 7 patients with hereditary dystonia.The rate of improvement in UPDRS Ⅲ score was 23% in 1 patient with VPS13C-related early-onset Parkinson′s disease. Conclusions:Childhood medically refractory hereditary movement disorders are a case series that exhibits significant phenotypic and genotypic heterogeneity.DBS surgery demonstrates significant efficacy for KMT2B-, TOR1A-, and SGCE-related hereditary movement disorders.

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