1.Effect of Yiqi Wenyang Huoxue Lishui Components on Cardiac Function and Mitochondrial Energy Metabolism in CHF Rats
Hui GAO ; Zeqi YANG ; Xin LIU ; Fan GAO ; Yangyang HAN ; Aiyangzi LU ; Xingchao LIU ; Qiuhong GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(2):27-36
ObjectiveTo investigate the effects of Yiqi Wenyang Huoxue Lishui components on the cardiac function and mitochondrial energy metabolism in the rat model of chronic heart failure (CHF) and explore the underlying mechanism. MethodsThe rat model of CHF was prepared by transverse aortic constriction (TAC). Eight of the 50 SD rats were randomly selected as the sham group, and the remaining 42 underwent TAC surgery. The 24 SD rats successfully modeled were randomized into model, trimetazidine (6.3 mg·kg-1), and Yiqi Wenyang Huoxue Lishui components (60 mg·kg-1 total saponins of Astragali Radix, 10 mg·kg-1 total phenolic acids of Salviae Miltiorrhizae Radix et Rhizoma, 190 mg·kg-1 aqueous extract of Lepidii Semen, and 100 mg·kg-1 cinnamaldehyde) groups. The rats were administrated with corresponding agents by gavage, and those in the sham and model groups were administrated with the same amount of normal saline at a dose of 10 mL·kg-1 for 8 weeks. Echocardiography was used to examine the cardiac function in rats. Enzyme-linked immunosorbent assay was employed to determine the serum levels of N-terminal pro-B-type natriuretic peptide (NT-ProBNP), hypersensitive troponin(cTnI), creatine kinase (CK), lactate dehydrogenase (LD), free fatty acids (FFA), superoxide dismutase (SOD), and malondialdehyde (MDA). The colorimetric assay was employed to measure the levels of adenosine triphosphate (ATP), adenosine diphosphate (ADP), and adenosine monophosphate (AMP) in the myocardial tissue. The pathological changes in the myocardial tissue were observed by hematoxylin-eosin staining and Masson staining. The Na+-K+-ATPase and Ca2+-Mg2+-ATPase activities in the myocardial tissue were determined by the colorimetric assay. The ultrastructural changes of myocardial mitochondria were observed by transmission electron microscopy. Western blot was employed to determine the protein levels of ATP synthase subunit delta (ATP5D), glucose transporter 4 (GLUT4), and carnitine palmitoyltransferase-1 (CPT-1). The mitochondrial complex assay kits were used to determine the activities of mitochondrial complexes Ⅰ, Ⅱ, Ⅲ, and Ⅳ. ResultsCompared with the sham group, the model group showed a loosening arrangement of cardiac fibers, fracture and necrosis of partial cardiac fibers, inflammatory cells in necrotic areas, massive blue fibrotic tissue in the myocardial interstitium, increased collagen fiber area and myocardial fibrosis, destroyed mitochondria, myofibril disarrangement, sparse myofilaments, and fractured and reduced cristae. In addition, the rats in the model group showed declined ejection fraction (EF) and fractional shortening (FS), risen left ventricular end-diastolic diameter (LVIDd), left ventricular end-systolic diameter (LVIDs), left ventricular end-diastolic posterior wall thickness (LVPWd), left ventricular end-systolic posterior wall thickness (LVPWs), left ventricular end-diastolic volume (LVVOLd), and left ventricular end-systolic volume (LVVOLs), elevated levels of NT-ProBNP, cTnI, CK, MDA, FFA, and LD, lowered level of SOD, down-regulated protein levels of GLUT4 and CPT-1, decreased activities of Na+-K+-ATPase, Ca2+-Mg2+-ATPase, and respiratory complexes Ⅰ-Ⅳ, and declined levels of ATP5D, ATP, ADP, and AMP (P<0.05, P<0.01). Compared with the model group, the Yiqi Wenyang Huoxue Lishui components and trimetazidine groups showed alleviated pathological damage of the mitochondria and mycardial tissue, risen EF and FS, declined LVIDd, LVIDs, LVPWd, LVPWs, LVVOLd, and LVVOLs, lowered levels of NT-ProBNP, cTnI, CK, MDA, FFA, and LD, elevated level of SOD, up-regulated protein levels of GLUT4 and CPT-1, increased activities of Na+-K+-ATPase, Ca2+-Mg2+-ATPase, and respiratory complexes Ⅰ-Ⅳ, and elevated levels of ATP5D, ATP, ADP, and AMP (P<0.05, P<0.01). ConclusionYiqi Wenyang Huoxue Lishui components can improve the cardiac function, reduce myocardial injury, regulate glucose and lipid metabolism, optimize the utilization of substrates, and alleviate the damage of mitochondrial structure and function, thus improving the energy metabolism of the myocardium in the rat model of CHF.
2.MRI findings and misdiagnosis of non-midline atypical medulloblastoma in children
Qiuhong MA ; Yuqing LIU ; Ting YI ; Ke JIN
Journal of Chinese Physician 2025;27(2):215-219
Objective:To investigate the magnetic resonance imaging (MRI) features of non-midline atypical medulloblastoma (MB) in children and analyze the causes of misdiagnosis, so as to improve the understanding and diagnosis of MB.Methods:The clinical and imaging data of 12 cases with non-midline atypical MB confirmed by pathology in Hunan Children′s Hospital from September 2018 to August 2023 were retrospectively analyzed. 12 cases underwent MRI plain scan, 11 cases underwent enhanced scan, and 10 cases underwent diffusion weighted imaging (DWI) and magnetic sensitivity weighted imaging (SWI). The location, morphology, peritumoral edema, size, signal characteristics (cystic lesion or hemorrhage), diffusion and enhancement of the tumor were observed, and the causes of misdiagnosis were analyzed.Results:Among the 12 cases, 9 cases were single, 4 cases were located in the cerebellar hemisphere, 2 cases were in the cerebellopontine angle (CPA), 2 cases were in the brain stem and CPA, and 1 case was in the left parietal lobe. There were 3 cases of multiple lesions, 1 case was located in the right pontine arm and cerebellar hemisphere (2 masses), 1 case was multiple lesions in bilateral cerebellar hemisphere, and 1 case was multiple nodular lesions in the cerebellar vermis mass and left cerebellar hemisphere. 6 cases were irregular in shape and 6 cases were quasi-circular. There were 3 cases without cystic change and 9 cases with varying degrees of cystic change (5 with large cystic change and 4 with small cystic change). 3 cases of hemorrhage, no calcification, 10 cases of DWI showed varying degrees of limited diffusion; 11 cases of enhanced scanning showed mild to obvious enhancement; There were 2 cases without peritumoral edema and 10 cases with mild to moderate peritumoral edema. There were 11 cases with supratentorial hydrocephalus and interstitial cerebral edema, and 1 case without hydrocephalus. 5 cases complicated with subtonsillar hernia; 9 cases were misdiagnosed before operation. Among them, 3 cases were misdiagnosed as high-grade glioma, 3 as low-grade glioma (1 of which was diagnosed as hair-cell astrocytoma), 2 as ependymoma, and 1 as atypical teratoma/rhabdomyoma.Conclusions:The MRI manifestations of non-midline atypical MB in children are varied. Combined with the location of the disease, age and focal signal characteristics, non-midline atypical MB can be included in the diagnostic range after the exclusion diagnosis, which can improve the preoperative diagnosis accuracy of this disease.
3.Isolation,identification and virulence evaluation of clinical strains of Actinobacil-lus pleuropneumoniae serotype 15 in pigs
Lu PENG ; Jiao ZHANG ; Weiyao HAN ; Qiuhong ZHANG ; Zhen LUO ; Bo HONG ; Zhichang LIU ; Rui ZHOU ; Yunfeng SONG ; Lu LI
Chinese Journal of Veterinary Science 2025;45(10):2156-2162,2230
In recent years,the prevalence of porcine infectious pleuropneumonia caused by Actinoba-cillus pleuropneumoniae(APP)has significantly increased in large-scale pig farms in China.The i-solation,identification,and biological characteristic testing of newly prevalent strains have impor-tant clinical significance.This study isolated four suspected APP strains(named XB2T-56,JMTLP-443,YD-THB-755,SYZJ-291)from lung samples of pig farms suspected of outbreaks of porcine infectious pleuropneumonia in Hubei Province.They were identified by PCR amplification,and multiplex PCR serological typing,the biological properties were tested by detecting the growth a-bility,hemolytic activity and biofilm forming ability.The drug resistance of the strains was ana-lyzed by drug sensitivity testing,and the virulence of one strain(XB2T-56)in mice and piglets was evaluated.The PCR identification result showed that all four clinical isolates were APP serotype 15 strains.These four strains grew slower than serotype 1 standard strains,had weaker hemolytic activity,but could form stronger biofilms.These strains are all less sensitive to cephalosporin,tylo-sin,sulfamethoxazole,and doxycycline,but sensitive to cefotaxime and enrofloxacin.The mice and piglet infection experiments showed that the isolated strain XB2T-56 has strong virulence.Artifi-cial intranasal infection causes acute death in piglets,with typical symptoms of pleuropneumonia in the lungs,and serotype 15 strains can be isolated from the lesion site.This study indicates that the APP serotype 15 strain has strong virulence,providing new date for the clinical epidemiological characteristics of APP.
4.Protective Effect of Shengxiantang on Myocardial Microvascular Injury in Rats with Chronic Heart Failure
Hui GAO ; Zeqi YANG ; Fan GAO ; Hongjing LI ; Aiyangzi LU ; Xingchao LIU ; Qiuhong GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):35-42
ObjectiveTo explore the protective effect of Shengxiantang on cardiac function and myocardial microvascular injury in rats with chronic heart failure (CHF). MethodsThe CHF rat model was prepared by aortic arch constriction (TAC). Of the 72 SD rats, 8 were randomly selected as the sham operation group, where the chest was opened without ligating the aortic arch. The 40 successfully modeled rats were randomly divided into the model group, the Shengxiantang low-, medium-, and high-dose groups (5.1, 10.2, 20.4 g·kg-1), and the trimetazidine group (6.3 mg·kg-1), with 8 rats in each group. Drug administration began 4 weeks after modeling. The administration groups received the corresponding drugs by gavage, while the sham operation and model groups were given the same amount of distilled water for 8 consecutive weeks. Echocardiography was used to assess cardiac function. Enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of nitric oxide (NO), endothelin (ET-1), vascular endothelial growth factor (VEGF), and von Willebrand factor (vWF). Ultrastructural changes of microvessels were observed by transmission electron microscopy. Immunohistochemistry was used to detect the expression levels of ATP synthase subunit (ATP5D) and F-actin in myocardial tissue. Western blot was used to detect the expression levels of occludin, claudin, vascular endothelial cadherin (VE-Cadherin), and zonula occludens-1 (ZO-1). Microvessel density was measured by immunofluorescence staining. ResultsCompared with the sham operation group, the ejection fraction (EF) and left ventricular shortening fraction (FS) in the model group were significantly decreased (P<0.01), while the left ventricular diastolic diameter (LVIDd), left ventricular systolic diameter (LVIDs), left ventricular end-diastolic posterior wall thickness (LVPWd), left ventricular end-systolic posterior wall thickness (LVPWs), left ventricular end-diastolic volume (LVVOLd), and left ventricular end-systolic volume (LVVOLs) were significantly increased (P<0.01). The levels of NO and VEGF were significantly decreased (P<0.01), while the levels of ET-1 and vWF were significantly increased (P<0.01). Under electron microscopy, the microvascular basement membrane was incomplete and the tight junctions were blurred. The expression levels of ATP5D, F-actin, occludin, claudin, ZO-1, and VE-Cadherin were significantly decreased (P<0.05, P<0.01), and the relative density of microvessels was significantly reduced (P<0.05, P<0.01). After intervention with Shengxiantang, the EF and FS of CHF rats significantly increased (P<0.01), while the LVIDd, LVIDs, LVPWd, LVPWs, LVVOLd, and LVVOLs significantly decreased (P<0.01). The levels of NO and VEGF significantly increased (P<0.01), while the levels of ET-1 and vWF significantly decreased (P<0.01). Under electron microscopy, the microvascular basement membrane was relatively complete and the tight junctions were more continuous. The expression levels of ATP5D, F-actin, occludin, claudin, ZO-1, and VE-Cadherin significantly increased (P<0.05, P<0.01), and the relative density of microvessels significantly increased (P<0.01). ConclusionShengxiantang can effectively improve the cardiac function of CHF rats, reduce microvascular endothelial injury, strengthen the connection between endothelial cells, and increase microvessel density, thereby protecting myocardial microvascular injury.
5.Protective Effect of Shengxiantang on Myocardial Microvascular Injury in Rats with Chronic Heart Failure
Hui GAO ; Zeqi YANG ; Fan GAO ; Hongjing LI ; Aiyangzi LU ; Xingchao LIU ; Qiuhong GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):35-42
ObjectiveTo explore the protective effect of Shengxiantang on cardiac function and myocardial microvascular injury in rats with chronic heart failure (CHF). MethodsThe CHF rat model was prepared by aortic arch constriction (TAC). Of the 72 SD rats, 8 were randomly selected as the sham operation group, where the chest was opened without ligating the aortic arch. The 40 successfully modeled rats were randomly divided into the model group, the Shengxiantang low-, medium-, and high-dose groups (5.1, 10.2, 20.4 g·kg-1), and the trimetazidine group (6.3 mg·kg-1), with 8 rats in each group. Drug administration began 4 weeks after modeling. The administration groups received the corresponding drugs by gavage, while the sham operation and model groups were given the same amount of distilled water for 8 consecutive weeks. Echocardiography was used to assess cardiac function. Enzyme-linked immunosorbent assay (ELISA) was used to detect the levels of nitric oxide (NO), endothelin (ET-1), vascular endothelial growth factor (VEGF), and von Willebrand factor (vWF). Ultrastructural changes of microvessels were observed by transmission electron microscopy. Immunohistochemistry was used to detect the expression levels of ATP synthase subunit (ATP5D) and F-actin in myocardial tissue. Western blot was used to detect the expression levels of occludin, claudin, vascular endothelial cadherin (VE-Cadherin), and zonula occludens-1 (ZO-1). Microvessel density was measured by immunofluorescence staining. ResultsCompared with the sham operation group, the ejection fraction (EF) and left ventricular shortening fraction (FS) in the model group were significantly decreased (P<0.01), while the left ventricular diastolic diameter (LVIDd), left ventricular systolic diameter (LVIDs), left ventricular end-diastolic posterior wall thickness (LVPWd), left ventricular end-systolic posterior wall thickness (LVPWs), left ventricular end-diastolic volume (LVVOLd), and left ventricular end-systolic volume (LVVOLs) were significantly increased (P<0.01). The levels of NO and VEGF were significantly decreased (P<0.01), while the levels of ET-1 and vWF were significantly increased (P<0.01). Under electron microscopy, the microvascular basement membrane was incomplete and the tight junctions were blurred. The expression levels of ATP5D, F-actin, occludin, claudin, ZO-1, and VE-Cadherin were significantly decreased (P<0.05, P<0.01), and the relative density of microvessels was significantly reduced (P<0.05, P<0.01). After intervention with Shengxiantang, the EF and FS of CHF rats significantly increased (P<0.01), while the LVIDd, LVIDs, LVPWd, LVPWs, LVVOLd, and LVVOLs significantly decreased (P<0.01). The levels of NO and VEGF significantly increased (P<0.01), while the levels of ET-1 and vWF significantly decreased (P<0.01). Under electron microscopy, the microvascular basement membrane was relatively complete and the tight junctions were more continuous. The expression levels of ATP5D, F-actin, occludin, claudin, ZO-1, and VE-Cadherin significantly increased (P<0.05, P<0.01), and the relative density of microvessels significantly increased (P<0.01). ConclusionShengxiantang can effectively improve the cardiac function of CHF rats, reduce microvascular endothelial injury, strengthen the connection between endothelial cells, and increase microvessel density, thereby protecting myocardial microvascular injury.
6.Liu Fengbin's Experience in Treating Cholelithiasis
Qiuhong YONG ; Chaoyuan HUANG ; Youlan CHEN ; Yiyuan ZHENG ; Chong PENG ; Lina ZHAO ; Fengbin LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(1):219-224
Chinese medicine therapy for removing gallstones is one of the methods for the treatment of cholelithiasis.In the view of Professor Liu Fengbin,attacking of external pathogens,improper diet and emotional disorders contribute to the main causes of cholelithiasis,and the pathogenesis of cholelithiasis is due to qi stagnation of both liver and gallbladder,and internal obstruction of damp-heat.The occurrence of cholelithiasis is closely related to deficiency of spleen and stomach,and is correlated with the pathological factors of turbid phlegm and blood stasis.For the Chinese medicine treatment of cholelithiasis,Professor Liu follows the principle of"treatment in accordance with three categories of etiological factors"(i.e,seasons,environment and body constitution).He advocates the integration of traditional Chinese medicine and western medicine,and is good at utilizing Lingnan herbs and distinctive herbs that can dissolve stones and remove stones.The treatment for cholelithiasis is mainly through the therapies of soothing liver and alleviating depression,clearing heat and removing dampness,and normalizing gallbladder function to remove stones,and is also supplemented by the therapies of invigorating spleen and replenishing qi,regulating qi to resolve phlegm,and activiting qi movement and blood circulation.Modified Da Chaihu Decoction plus Sijin Decoction is often used as a basic formula for treating cholelithiasis,which is mainly composed of Desmodii Styracifolii Herba,Galli Gigerii Endothelium Corneum,Bupleuri Radix,Curcumae Radix,Scutellariae Radix,Aucklandiae Radix,Aurantii Fructus Immaturus stir-fried with bran,Paeoniae Radix Rubra,Linderae Radix,and Rhei Radix et Rhizoma.
7.Liu Fengbin's Experience in Intervening Hepatitis B-Related Liver Fibrosis with Traditional Chinese Medicine
Qiuhong YONG ; Chaoyuan HUANG ; Lina ZHAO ; Xiling YANG ; Yiyuan ZHENG ; Fengbin LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1786-1791
Professor Liu Fengbin,a renowned traditional Chinese medicine(TCM)expert in Guangdong Province,specializes in treating digestive system disorders of hepatobiliary and splenic diseases with Chinese herbal medicine,and has accumulated extensive experience in intervening viral hepatitis type B and hepatitis B-related liver fibrosis.Professor Liu proposes that dampness,heat,stasis,toxin,and deficiency are the primary pathogenic factors of hepatitis B-related liver fibrosis.The disease is rooted in the liver,and is also closely related to the spleen and kidney and involves the gallbladder,stomach,and triple energizer.Based on TCM dialectical thinking and years of clinical practice,Professor Liu summarized the"eight methods for treating liver diseases"for intervening hepatitis B-related liver fibrosis with Chinese medicine,i.e.,method of activating the spleen and stomach,method of clearing heat and dispelling dampness,method of dispelling dampness and resolving turbidity,method of enriching yin and subduing fire,method of warming yang and tonifying the kidney,method of softening the liver and nourishing blood,method of activating blood circulation and softening hardness,and method of calming the mind and improving sleep.In clinical practice,these methods are flexibly combined based on patients'syndrome types and manifestations.Moreover,Professor Liu is skilled in using herbal groups having Lingnan medicinal characteristics,such as herbal group for clearing heat and removing toxin,and draining dampness to relieve jaundice which is composed of Mallotus Apelta Radix et Rhizoma,Abri Herba and Phyllanthi Urinariae Herba,herbal group for promoting digestion to remove food retention which is composed of Fermentum Rubrum,Crataegi Fructus and Hordei Fructus Germinatus,herbal group for removing blood and eliminating mass group which is composed of vinegar-processed Curcumae Rhizoma,vinegar-processed Trionycis Carapax and Eupolyphaga Steleophaga,and herbal group for protecting liver and lowering enzyme which is composed of Hoveniae Semen and Schisandrae Chinensis Fructus.Professor Liu's medication experience for intervening hepatitis B-related liver fibrosis will provide valuable references for TCM clinical practice in the management of liver diseases.
8.Comparative analysis of the effect of two types of helmets on the neck of pilots under rapid braking condition
Xiaoxia YUAN ; Kehua LI ; Qiuhong LIU
Space Medicine & Medical Engineering 2025;36(3):241-245
Objective To compare and analyze the biological effects of two types of helmets,which have different masses and centroids,on the neck of pilots under rapid braking condition,and provide new ideas for improving the ergonomic design of helmets for pilots.Methods A finite element model of the head,neck,helmet,and restraint system was established using Hyper Mesh 14.0 software.Finite element simulation was used to study the neck biological effects of pilots wearing different helmets for rapid braking.Results After wearing Type Ⅰ and Type Ⅱ helmets,the trend,occurrence time,and location of the maximum stress borne by each vertebra and intervertebral disc are basically consistent.The maximum stress on the vertebrae above C3 is smaller when wearing a Type Ⅰ helmet,while the maximum stress on the vertebrae below C3 is smaller when wearing a Type Ⅱ helmet.The maximum stress on the C2~C3 intervertebral disc is relatively small when wearing a TypeⅠhelmet,while the intervertebral discs below it are relatively small when wearing a Type Ⅱ helmet.The ligament elongation rate and maximum neck injury index Nij of wearing Type Ⅰ helmets are both relatively high.Conclusion Type Ⅰ helmet has a significant biological impact on the neck of pilots during rapid braking.
9.Characteristic analysis of the determination standards for toxic substances in the workplace in China
Xiaoshuang XIE ; Tuo LIU ; Yang LU ; Qiuhong ZHU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(5):353-357
Objective:To analyze the characteristics of toxic substances determination standards in workplaces in China, in order to provide basis for further development of national occupational health standards.Methods:In November 2023, Used descriptive analysis methods, conduct a characteristic analysis of the toxic substance determination standards for workplaces in China issued between 2004 and 2024, including the first drafting situation, standard formulation/revision situation, standard determination methods types, and method performance indicators.Results:The The first drafting unit in the GBZ/T 160 and GBZ/T 300 standards that have been issued is mainly composed of disease prevention and control centers (154, accounting for 60.6%) and the hospital of Occupational disease prevention and control (154, accounting for 60.6%). The regional distribution is North China (65 items, accounting for 25.6%), East China (60 items, accounting for 23.7%), and South China (51 items, accounting for 20.2%). 93.1% of the standards were published between 2004 and 2017; Covering 671 measurement methods.The method types are gas chromatography (367, 54.7%), spectrophotometry (98, 14.6%), inductively coupled plasma mass spectrometry (54, 8.0%), etc. The missing items of standard performance indexes mainly focus on penetration capacity, recovery rate and detection limit. The missing items of penetration capacity and recovery rate are mainly distributed in gas chromatography methods; The missing detection limits and minimum detection concentrations are mainly distributed in spectrophotometry and gas chromatography method.Conclusion:Suggest accelerating the update speed of toxic substance determination standards in the workplace, supplementing the supporting determination methods in GBZ 2.1 standard, focusing on solving common problems in existing standards, gradually improving the standards for missing performance indicators, and gradually carrying out national standard transformation in a hierarchical and phased manner for local or group standards with good practical applications.
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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