1.Correlation between cerebral perfusion and cognitive function in patients with minor stroke or transient ischemic attack caused by severe intracranial arterial stenosis or occlusion
Meiling SHANG ; Yanran CHEN ; Bingbing GUO ; Xiaotong CHI ; Lu QUAN ; Gezhi YAN ; Hui WANG ; Ling MA ; Fude LIU ; Jia YU ; Jianfeng HAN ; Ming ZHANG ; Wanghuan DUN ; Yujing WANG
Chinese Journal of Cerebrovascular Diseases 2025;22(10):701-711
Objective This study aimed to investigate the correlation of cerebral perfusion and cognitive function status in patients with minor stroke(MS)or transient ischemic attack(TIA)complicated by severe intracranial arterial stenosis or occlusion(hereafter referred to as ICAS-MSTIA).Methods Retrospectively enrol consecutive ICAS-MSTIA patients admitted to the Department of Neurology,the First Affiliated Hospital of Xi'an Jiaotong University,from June 2023 to May 2024.In the meantime,healthy controls were openly recruited.The ICAS-MSTIA patients were divided into two groups based on the side of intracranial large artery stenosis or occlusion:the left intracranial large artery involvement group and the right intracranial large artery involvement group.All patients with intracranial large artery stenosis or occlusion underwent MR scanning within 2 weeks after the first episode of TIA or MS,while there was no specific time requirement for MR examination in the healthy control group.On the day of MR scanning,the Montreal cognitive assessment(MoCA)scale was used to evaluate the participants'global cognitive function and performance in various cognitive domains,including visuospatial/executive function,naming,attention,language,abstraction,delayed recall,and orientation.General information of all participants was collected,including age,sex,educational level,body mass index,and history of smoking and alcohol consumption.Clinical data were collected from both left and right intracranial large artery involvement groups,including cerebrovascular risk factors(such as,diabetes mellitus,hypertension,and hyperlipidemia),National Institutes of Health stroke scale(NIHSS)score at admission,responsible stenotic or occluded arteries(internal carotid artery,middle cerebral artery),degree of stenosis in the responsible vessel(severe stenosis[stenosis rate 70%-99%],occlusion[stenosis rate100%])and non-responsible vessel(no stenosis[0],mild stenosis[stenosis rate>0-49%]),collateral circulation compensation(American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology[ASTIN/SIR]collateral circulation classification),and responsible events(TIA,MS).General data and MoCA scale scores were compared across the three groups,while clinical data were compared between the left and right intracranial large artery involvement groups.Statistical parametric mapping 12(SPM 12)was used to perform voxel-wise independent samples t-tests on cerebral blood flow(CBF)differences among the left ICAS-MSTIA group,right ICAS-MSTIA group,and healthy control group,with cluster-level family-wise error(FWE)correction applied for adjustment.Multiple linear regression analysis was conducted to evaluate the relationship between global CBF values and total MoCA scores in ICAS-MSTIA patients with left or right intracranial large artery involvement.Results A total of 33 ICAS-MSTIA patients and 33 healthy controls were enrolled in the study.Among the ICAS-MSTIA patients,21 had left intracranial large artery involvement and 12 had right involvement.(1)Among the three groups,statistically significant differences were observed in the proportions of individuals with reported smoking history(P=0.024)and alcohol consumption history(P=0.011).The left intracranial large artery involvement group had a higher NIHSS score(0[0,2]vs.0[0,0],P=0.044)and a higher proportion of patients with internal carotid artery involvement(13/21 cases vs.2/12 cases,P=0.027)compared with the right side group.No statistically significant differences were observed in other general or clinical data across the three groups or between the two non-control groups(all P>0.05).(2)Statistically significant differences were found across the three groups in the MoCA scale total score and scores of visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation cognitive domains(all P<0.05),while no significant difference was noted in the naming score(P=0.063).The left intracranial large artery involvement group had lower total MoCA score and lower scores in visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation in comparison to the healthy control group(all P<0.016 7).The right intracranial large artery involvement group had significantly lower scores in language,abstraction,and orientation domains than the healthy control group(all P<0.016 7).Additionally,the left side group had a lower attention domain score than the right side group(P<0.016 7).No other statistically significant differences were found in pairwise comparisons(all P>0.016 7).(3)Patients in both the left and right intracranial large artery involvement groups exhibited a significant decrease in CBF in extensive regions on the affected side,including the temporal lobe,dorsolateral prefrontal cortex,and occipital lobe.Furthermore,after correction,in the left involvement group CBF was higher in the contralateral lingual gyrus,cuneus,and calcarine sulcus compared with the healthy control group(P<0.05).While in the right involvement group,no regions had increased CBF compared to the healthy control group.(4)Multiple linear regression showed positive correlation between CBF in ipsilateral precentral gyrus and superior temporal gyrus,and the total MoCA score in patients with left intracranial large artery involvement(FWE-corrected,P<0.05).In contrast,there was no correlation between CBF and total MoCA score in patients with right intracranial large artery involvement.Conclusions ICAS-MSTIA patients exhibited various degrees of impairment in cerebral perfusion and cognitive function.A significant positive correlation is observed between these two impairments in patients with left intracranial large artery involvement.
2.Study on the mechanism of different concentrations of simvastatin on regeneration of sciatic nerve injury in rats
Yun-hu LI ; Jun-wei CAO ; Chen LI ; Jing-yu ZHANG ; Ai-she DUN ; Hong-bin WANG
Journal of Regional Anatomy and Operative Surgery 2025;34(9):772-775
Objective To explore the effects of different concentrations of simvastatin on nerve regeneration after sciatic nerve injury.Methods Rats were randomly divided into the normal group,the control group,the low-dose group and the high-dose group,with 3 rats in each group.Except for the normal group,adult rat sciatic nerve crush injury models were established in the other groups.Rats in the normal group and the control group were orally administered with water,while those in the low-dose group and high-dose group were orally administered with 98%simvastatin at dosages of 4 mg/mL and 40 mg/mL,respectively.The sciatic nerve regeneration in rats was evaluated by sciatic function index(SFI),HE staining,luxol fast blue(LFB)staining and immunofluorescence staining,etc.Results The SFI of rats in the high-dose group 7 days and 14 days after surgery were higher than those in the control group(P<0.05);there was no significant difference in SFI of rats between the low-dose group and the control group 7 days and 14 days after surgery(P>0.05).HE staining and LFB staining results showed that compared with the control group,the number of neurons of rats in the high-dose group increased,the nerve fibers and myelin were clearer and denser,and the nerve function was significantly restored;while no significant improvement was observed in the sciatic nerve of rats in the low-dose group.The immunofluorescence staining results showed that compared with the control group,the immunofluorescence intensity in the high-dose group increased,while that in the low-dose group decreased,the differences were statistically significant(P<0.05).Conclusion High-dose simvastatin can promote peripheral nerve regeneration by regulating the expression of M2 macrophages.
3.Correlation between cerebral perfusion and cognitive function in patients with minor stroke or transient ischemic attack caused by severe intracranial arterial stenosis or occlusion
Meiling SHANG ; Yanran CHEN ; Bingbing GUO ; Xiaotong CHI ; Lu QUAN ; Gezhi YAN ; Hui WANG ; Ling MA ; Fude LIU ; Jia YU ; Jianfeng HAN ; Ming ZHANG ; Wanghuan DUN ; Yujing WANG
Chinese Journal of Cerebrovascular Diseases 2025;22(10):701-711
Objective This study aimed to investigate the correlation of cerebral perfusion and cognitive function status in patients with minor stroke(MS)or transient ischemic attack(TIA)complicated by severe intracranial arterial stenosis or occlusion(hereafter referred to as ICAS-MSTIA).Methods Retrospectively enrol consecutive ICAS-MSTIA patients admitted to the Department of Neurology,the First Affiliated Hospital of Xi'an Jiaotong University,from June 2023 to May 2024.In the meantime,healthy controls were openly recruited.The ICAS-MSTIA patients were divided into two groups based on the side of intracranial large artery stenosis or occlusion:the left intracranial large artery involvement group and the right intracranial large artery involvement group.All patients with intracranial large artery stenosis or occlusion underwent MR scanning within 2 weeks after the first episode of TIA or MS,while there was no specific time requirement for MR examination in the healthy control group.On the day of MR scanning,the Montreal cognitive assessment(MoCA)scale was used to evaluate the participants'global cognitive function and performance in various cognitive domains,including visuospatial/executive function,naming,attention,language,abstraction,delayed recall,and orientation.General information of all participants was collected,including age,sex,educational level,body mass index,and history of smoking and alcohol consumption.Clinical data were collected from both left and right intracranial large artery involvement groups,including cerebrovascular risk factors(such as,diabetes mellitus,hypertension,and hyperlipidemia),National Institutes of Health stroke scale(NIHSS)score at admission,responsible stenotic or occluded arteries(internal carotid artery,middle cerebral artery),degree of stenosis in the responsible vessel(severe stenosis[stenosis rate 70%-99%],occlusion[stenosis rate100%])and non-responsible vessel(no stenosis[0],mild stenosis[stenosis rate>0-49%]),collateral circulation compensation(American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology[ASTIN/SIR]collateral circulation classification),and responsible events(TIA,MS).General data and MoCA scale scores were compared across the three groups,while clinical data were compared between the left and right intracranial large artery involvement groups.Statistical parametric mapping 12(SPM 12)was used to perform voxel-wise independent samples t-tests on cerebral blood flow(CBF)differences among the left ICAS-MSTIA group,right ICAS-MSTIA group,and healthy control group,with cluster-level family-wise error(FWE)correction applied for adjustment.Multiple linear regression analysis was conducted to evaluate the relationship between global CBF values and total MoCA scores in ICAS-MSTIA patients with left or right intracranial large artery involvement.Results A total of 33 ICAS-MSTIA patients and 33 healthy controls were enrolled in the study.Among the ICAS-MSTIA patients,21 had left intracranial large artery involvement and 12 had right involvement.(1)Among the three groups,statistically significant differences were observed in the proportions of individuals with reported smoking history(P=0.024)and alcohol consumption history(P=0.011).The left intracranial large artery involvement group had a higher NIHSS score(0[0,2]vs.0[0,0],P=0.044)and a higher proportion of patients with internal carotid artery involvement(13/21 cases vs.2/12 cases,P=0.027)compared with the right side group.No statistically significant differences were observed in other general or clinical data across the three groups or between the two non-control groups(all P>0.05).(2)Statistically significant differences were found across the three groups in the MoCA scale total score and scores of visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation cognitive domains(all P<0.05),while no significant difference was noted in the naming score(P=0.063).The left intracranial large artery involvement group had lower total MoCA score and lower scores in visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation in comparison to the healthy control group(all P<0.016 7).The right intracranial large artery involvement group had significantly lower scores in language,abstraction,and orientation domains than the healthy control group(all P<0.016 7).Additionally,the left side group had a lower attention domain score than the right side group(P<0.016 7).No other statistically significant differences were found in pairwise comparisons(all P>0.016 7).(3)Patients in both the left and right intracranial large artery involvement groups exhibited a significant decrease in CBF in extensive regions on the affected side,including the temporal lobe,dorsolateral prefrontal cortex,and occipital lobe.Furthermore,after correction,in the left involvement group CBF was higher in the contralateral lingual gyrus,cuneus,and calcarine sulcus compared with the healthy control group(P<0.05).While in the right involvement group,no regions had increased CBF compared to the healthy control group.(4)Multiple linear regression showed positive correlation between CBF in ipsilateral precentral gyrus and superior temporal gyrus,and the total MoCA score in patients with left intracranial large artery involvement(FWE-corrected,P<0.05).In contrast,there was no correlation between CBF and total MoCA score in patients with right intracranial large artery involvement.Conclusions ICAS-MSTIA patients exhibited various degrees of impairment in cerebral perfusion and cognitive function.A significant positive correlation is observed between these two impairments in patients with left intracranial large artery involvement.
4.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.
5.Research of 3D printing model in analysis of anterior disc displacement with reduction
Bo-yu AN ; Fang-tong JIAO ; Shun ZHANG ; Wan-tong YU ; Ai-she DUN ; Zuo-qin ZHAO
Journal of Regional Anatomy and Operative Surgery 2025;34(8):653-657
Objective To deeply understand the anatomical basis of temporomandibular joint disorders,and explore and master the pathological characteristics of anterior displacement of temporomandibular joint disc through cadaveric dissection and 3D printing technology.Methods By dissecting the temporomandibular joints of 40 head and neck specimens,the bilateral structures of the temporomandibular joints were measured to obtain condyle and articular disc data.3D modeling was carried out using 3ds Max software and printed out a model of temporomandibular joint.The pathological model of the anterior disc displacement with reduction(ADDwR)was simulated by adjusting the opening degree,the position of the articular disk,and the position of the condyle of the model.Results The precise data of the right and left temporomandibular joint discs and condyle were successfully obtained by dissection and measurement.The thickness of the anterior band of left temporomandibular joint discs was(2.02±0.57)mm,the thickness of the middle band was(1.46±0.33)mm,the thickness of the posterior band was(3.00±0.46)mm,the anterior-posterior diameter was(9.60±0.72)mm,and the internal-external diameter was(17.73±0.84)mm.While the thickness of the anterior band of right temporomandibular joint discs was(1.84±0.35)mm,and the thickness of the middle band was(1.43±0.28)mm,the thickness of posterior band was(3.08±0.49)mm,the anterior-posterior diameter was(9.30±0.88)mm,and the internal-external diameter was(17.38±1.10)mm.The internal-external diameter of the left temporomandibular joint condyle was(18.97±0.41)mm,and the anterior-posterior diameter was(8.56±0.43)mm;the internal-external diameter of the right temporomandibular joint condyle was(18.86±0.75)mm,and the anterior-posterior diameter was(8.40±0.30)mm.The standard temporomandibular joint model was printed out by the measured data.The model was utilized to simulate the physiological state of temporomandibular joint under normal conditions,as well as the three pathological states of closed mouth,closed mouth to open mouth,and open mouth in the case of ADDwR.Conclusion The temporomandibular joint model can more intuitively present the changes of anatomical structure in reversible temporoman-dibular joint disorders,which is helpful for understanding and mastering the different classification of this disease.
6.Clinical and cardiac magnetic resonance characteristics of nine cases of Fabry disease
Li ZHANG ; Tuo HE ; Guirong ZHANG ; Wei HUANG ; Yanyan ZHANG ; Jingyi HU ; Chengxi YAN ; Dun DING
Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(6):974-978
Objective To analyze the clinical and cardiac magnetic resonance(CMR)characteristics of patients with Fabry disease(FD)and evaluate the application value of CMR in the early diagnosis of cardiac involvement in FD.Methods This retrospective study involved nine patients with FD confirmed by renal biopsy pathology and genetic testing at our hospital between January 2021 and October 2024.Their clinical baseline data,laboratory test reuslts,and CMR images were collected.CMR images were analyzed using CVI42 software to generate functional,morphological,and structural parameters.Results In this study,78%of the patients were male,and a high proportion(67%)had a family history of FD.Electrocardiographic abnormalities were observed in eight patients(89%),while 33%reported acroparesthesia and 22%exhibited cornea verticillata,a characteristic ocular manifestation of FD.Left ventricular hypertrophy was present in four patients,with one case also showing right ventricular hypertrophy.Late gadolinium enhancement(LGE)was positive in one patient,presenting as intermural enhancement.The mean left ventricular ejection fraction(LVEF)was within the normal range.T1 mapping demonstrated that both global and segmental native T1 values in the left ventricular myocardium were below 1 200 ms.Conclusion Multimodal CMR imaging provides crucial imaging evidence for the diagnosis of FD,with native T1 mapping showing significant clinical potential for disease staging.
7.Mechanism and Application Status of PRP-loaded Hydrogels in the Treatment of KOA
Xihua ZHANG ; Hongchi YI ; Dun LIU ; Wentao ZHAO ; Baochuang QI ; Zhongyu PENG ; Jubao LI ; Tao CHEN
Journal of Kunming Medical University 2025;46(8):115-126
Knee osteoarthritis(KOA)is a common chronic degenerative bone and joint disease characterized by degeneration and wear of knee cartilage.It is commonly found in middle-aged and elderly people and seriously impacts on their lower limb activity and quality of life.At present,the treatment of early and middle stage KOA mainly relies on the conservative methods such as oral medication,joint injection,topical patches and traditional Chinese medicine.Platelet rich plasma(PRP),as an autologous platelet concentrate,is rich in various growth factors and has no risk of immune rejection.In recent years,it has been widely used in the repair of bone,joint,and soft tissue injuries.However,the short biological half-life of growth factors in PRP and the fluidity of injection sites can result in insufficient binding force,short action time,poor target therapy efficacy,and the need for repeated injections in the joint cavity,which will increase the risk of iatrogenic infections.Hydrogels are cross-linked polymer networks containing water,and their high histocompatibility and drug release have attracted much attention.The slow and continuous release of drug is achieved by loading PRP onto hydrogel.Its unique adhesion reduces the flow of drug in the joint,thus extending the local action time of PRP and reducing the need for repeated injection.This article reviews the biological characteristics of PRP and hydrogel,the mechanism of action and clinical application of PRP loaded hydrogel in the treatment of KOA,and analyzes the existing problems and challenges,aiming to provide more effective treatment options for KOA patients through the in-depth discussion of this new treatment method.
8.Wendantang Regulates Energy Metabolism in Treatment of Myocardial Ischemia via SIRT3/PGC-1α Pathway
Xinjun ZHANG ; Zhiqiang XIAO ; Jia LU ; Wenliang DUN ; Ning GU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(2):1-8
ObjectiveTo investigate the mechanism by which Wendantang regulates the silent information regulator 3 (SIRT3)/peroxisome proliferator-activated receptor-gamma coactivator-1α (PGC-1α) pathway to influence energy metabolism and thereby prevent and treat myocardial ischemia (MI) in a rat model of hyperlipidemia (HL). MethodsThirty SD rats were randomly assigned into five groups: control, model, low-dose (3.702 g·kg-1·d-1) Wendantang, high-dose (7.404 g·kg-1·d-1) Wendantang, and positive control (trimetazidine, 0.006 g·kg-1·d-1), with six rats in each group. The control group was fed normally, while the other groups were fed with a high-fat diet for six weeks for the modeling of HL. Subsequently, the drug intervention groups were administrated with corresponding drugs by gavage, and the control and model groups received an equivalent volume of normal saline for 14 days. One hour after the last gavage, the other groups except the control group were injected intraperitoneally with posterior pituitary hormone (30 U·kg-1) to induce MI. Electrocardiography (ECG) was employed to detect changes in the electrocardiogram. Hematoxylin-eosin staining was performed to observe cardiac pathological changes. Enzyme-linked immunosorbent assay was employed to measure the serum levels of cardiac troponin I(cTnI), myoglobin (MYO), and creatine kinase-MB (CK-MB). Colorimetry was used to determine the levels of total cholesterol (TC) and triglycerides (TG) in the serum and ATP, malondialdehyde (MDA), and superoxide dismutase (SOD) in the myocardial tissue. Western blot was employed to determine the protein levels of SIRT3, PGC-1α, adenosine monophosphate-activated protein kinase (AMPK), and phosphorylated AMPK (p-AMPK) in the myocardial tissue. Real-time PCR was employed to measure the mRNA levels of SIRT3, PGC-1α, and AMPKα in the myocardial tissue. ResultsCompared with the control group, the model group showed significant J-point deviation and elevation in the ECG image, increased heart rate, disarrangement of myocardial fibers with unclear boundaries, elevated levels of CK-MB, cTnI, MYO, TC, and TG (P<0.05, P<0.01), declined levels of SOD and ATP (P<0.01), down-regulated mRNA levels of SIRT3, PGC-1α, and AMPK (P<0.05), and down-regulated protein levels of SIRT3, PGC-1α, and p-AMPK (P<0.05). Compared with the model group, the low-dose and high-dose Wendantang groups and the trimetazidine group showed inhibited J-point deviation and elevation in the ECG image, slowed heart rate, reduced inflammatory cell infiltration, alleviated disarrangement of myocardial fibers, declined levels of CK-MB, cTnI, MYO, TC, and TG (P<0.05, P<0.01), elevated level of SOD (P<0.01), up-regulated mRNA levels of SIRT3, PGC-1α, and AMPK (P<0.05, P<0.01) and up-regulated protein levels of SIRT3, PGC-1α, and p-AMPK (P<0.05, P<0.01). ConclusionWendantang can effectively intervene in HL-associated MI in rats by reducing oxidative stress in myocardial cells, alleviating lipid metabolism disorders, and improving myocardial energy metabolism via the SIRT3/PGC-1α signaling pathway.
9.Langerhans Cell Histiocytosis Complicated with Hemophagocytic Lymphohistiocytosis:Two Case Reports
Yanqing CHEN ; Jianxin DUN ; Ai ZHANG ; Aiguo LIU ; Qun HU
Herald of Medicine 2025;44(12):2005-2009
Objective To analyze cases of Langerhans cell histiocytosis(LCH)initially presenting with hemophagocytic lymphohistiocytosis(HLH)in order to enhance clinicians'awareness and avoid misdiagnosis or missed diagnosis.Methods Clinical characteristics of two cases of LCH with HLH as the initial symptom cases were retrospectively collected and analyzed.Results Both patients were male and admitted with"fever and bicytopenia".The physical examination revealed scattered rashes and hepatosplenomegaly.Based on the laboratory results,HLH was initially considered in both children.In case 1,the underlying disease was not immediately identified,but a skin biopsy later confirmed LCH.The patient's symptoms improved with LCH-directed therapy;however,a secondary pulmonary infection triggered progressive hemophagocytosis,which was successfully controlled after adding HLH treatment.In Case 2,HLH treatment initially stabilized the fever.After a skin biopsy confirmed LCH,combined LCH therapy was administered,and the symptoms improved.Both patients received regular chemotherapy according to the CCHG-LCH-2019 protocol.During follow-up,Case 1 developed a BRAF gene mutation and was treated with oral trametinib in addition to chemotherapy.As of the latest follow-up,both patients remained in stable condition.Conclusion Children with HLH and accompanied by a rash should actively search for the underlying cause.A skin biopsy should be performed promptly to clarify the diagnosis.Once the diagnosis is confirmed,active treatment is necessary,a single treatment approach should be avoided,and timely assessment of the condition should be conducted to achieve personalized treatment.
10.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.

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