1.Analysis of clinical and genetic characteristics in three cases of early-onset Moyamoya disease associated with ring finger protein 213 gene variants in infancy
Chinese Journal of Cerebrovascular Diseases 2025;22(7):487-496,505
Objective To investigate the clinical and genetic characteristics of infantile early-onset Moyamoya disease associated with ring finger protein 213(RNF213)gene variants.Methods This study included retrospective,consecutive case series of infantile early-onset Moyamoya disease admitted to the Department of Pediatric Neurology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science and Technology,between June 2020 and June 2024.General and clinical data were collected,including sex,age,chief complaint,admission time,history of present illness,personal history,family history,neurological physical examination,auxiliary investigations,diagnosis/treatment course,and follow-up status.Genetic testing results of the patients and their parents were analyzed.Mutation sites were screened and annotated through bioinformatics analysis,and suspicious variants were validated by Sanger sequencing.The molecular evolutionary genetics analysis software MEGA(v11.0)was used for amino acid sequence alignment and conservation analysis of identified missense mutations.Based on the protein structure databases,the three-dimensional structure of the missense proteins was obtained through cryo-electron microscopy.The identified missense mutations were mapped onto this structure,and PyMOL(v2.0.6)was used for protein structure visualization and hydrogen bond analysis at variant sites.Results(1)Three infants with early-onset Moyamoya disease were enrolled(1 male,2 females).Initial symptoms included epileptic seizures,transient ischemic attacks,or acute cerebral infarction.Genetic testing revealed RNF213 missense mutations in all three patients:patient 1 carried p.Arg4810Lys and p.Thr1727Met(both maternally inherited);patient 2 carried p.Arg4810Lys(paternally inherited);patient 3 carried a de novo p.Lys4136Gln mutation(both parents were wild-type).All patients underwent indirect cerebral revascularization.Postoperatively,epileptic seizures and cerebral ischemic events gradually resolved,the modified Rankin scale scores at the last follow-up were 2,1,and 2,respectively.(2)The amino acid residues threonine 1727(THR1727),lysine 4136(LYS4136),and arginine 4810(ARG4810)in the RNF213 protein were absolutely conserved across all three patients.Compared to wild-type ARG4810,the p.Arg4810Lys mutation occurred within an α-helix and reduced internal hydrogen bond interactions by one.The p.Thr1727Met mutation reduced hydrogen bonding by one compared to wild-type THR1727.The p.Lys4136Gln mutation reduced hydrogen bonding by one relative to wild-type LYS4136 and altered residues connecting two α-helices.Conclusions Infantile early-onset Moyamoya disease has insidious onset,severe progression,and diverse clinical manifestations,making it prone to misdiagnosis.RNF213 gene p.Arg4810Lys,p.Thr1727Met and p.Lys4136Gln mutations contribute to the pathogenesis of Moyamoya disease by affecting molecular mechanisms underlying its protein function.Early genetic testing for RNF213 variants aids clinical diagnosis.Indirect cerebral revascularization may benefit the affected infants.These findings require further validation through large-scale,prospective,multicenter studies.
2.A case of central nervous system intravascular large B-cell lymphoma presenting as cerebral infarction
Chinese Journal of Cerebrovascular Diseases 2025;22(7):502-505
Intravascular large B-cell lymphoma(IVLBCL)is an extranodal subtype of non-Hodgkin lymphoma that most commonly involves the nervous system,skin,and parenchymal organs.This rare disease lacks specific clinical and imaging features.When presenting as cerebral infarction,IVLBCL may manifest as scattered punctate infarcts,cerebral microbleeds,and even vasculitis-like white matter lesions,making it highly susceptible to misdiagnosis.This article reported a case of IVLBCL primarily present as cerebral infarction,which was ultimately diagnosed through brain biopsy.The clinical features,imaging manifestations,and pathological diagnosis of IVLBCL are discussed,aiming to enhance clinicians' understanding of this disease and provide a reference for clinical diagnosis and treatment.
3.Comparative analysis of sporadic and von Hippel-Lindau syndrome-associated intracranial hemangioblastomas:clinical features and survival ending
Lixin XU ; Xuanshi LIU ; Xinru XIAO ; Hongqi ZHANG
Chinese Journal of Cerebrovascular Diseases 2025;22(7):439-452
Objective To investigate the differences in clinical characteristics,surgical outcomes,and prognosis between sporadic intracranial hemangioblastoma(IC-HB)and von Hippel-Lindau(VHL)syndrome-associated IC-HB.Methods A retrospective consecutive series of patients who underwent microsurgical resection at the Department of Neurosurgery,Xuanwu Hospital,Capital Medical University,between April 2014 and January 2024,with postoperative pathological confirmation of IC-HB,was included.Clinical and imaging data were collected,including demographics(sex,age),preoperative clinical manifestations(asymptomatic,headache,dizziness,vertigo or imbalance,blurred vision or papilledema,nausea or vomiting,other symptoms),number of symptoms,lesion type(solid or solid-cystic),lesion size(volume,longest diameter,anteroposterior diameter,superoinferior diameter,transverse diameter),lesion location(cerebellar region:hemisphere,vermis;brainstem region:medulla oblongata,fourth ventricle;skull base region:cerebellopontine angle,jugular foramen,petroclival region),Karnofsky performance status(KPS)score(preoperative,postoperative;KPS score>70 and 70),surgical information,and follow-up data.Based on past medical history,family history,and VHL gene test results,patients were classified into sporadic IC-HB and VHL syndrome-associated IC-HB groups.Differences in clinical characteristics,surgical outcomes,and follow-up status were compared between the groups.Improved outcomes were defined as increases in KPS scores over 0 at 6-month follow-ups in comparison with preoperative KPS,while non-improved outcomes were defined by unchanged or decreased(>0 point)KPS scores.Survival outcomes,including postoperative recurrence(newly occurring abnormally enhancing nodules at the surgical site or periphery with continuous development during follow-ups.Recurrence could be verified through the combination of imaging enhancement features,clinical manifestations and post-operative pathological examinations),postoperative KPS improvement,and death of any cause during follow-up.The outcomes of postoperative KPS improvement versus non-improvement(unchanged or worsened)were analyzed through univariate analysis with the Firth penalized maximum likelihood Logistic regression model.Variables meeting the criteria(P<0.05 in univariate analysis,clinical importance,statistical model feasibility)were included in a multivariate Logistic regression model to identify independent factors influencing functional outcomes.Survival outcomes were analyzed using Cox proportional hazards regression models.Kaplan-Meier survival analysis was used to assess recurrence-free survival rates between groups with the Log-rank test.Furthermore,univariate and multivariate Logistic regression analyses were performed separately for the sporadic IC-HB and VHL syndrome-associated IC-HB subgroups to explore independent factors for postoperative KPS improvement.Results A total of 82 IC-HB patients(41 male,41 female),aged 11-73 years(mean[42±15]years),were included.Among which,68 had sporadic IC-HB and 14 had VHL syndrome-associated IC-HB.39 patients had improved postoperative KPS and 43 patients showed no improvements in KPS scores.(1)For clinical characteristics,the age of onset was younger in the VHL syndrome-associated IC-HB group([35±14]years vs.[44±15]years,P=0.044).Lesions in VHL syndrome-associated IC-HB patients were more likely to involve the brainstem and adjacent critical structures(8/14 of which involved medulla oblongata),while sporadic IC-HB was more common in the cerebellar hemispheres(70.6%[48/68]).The distribution of lesion location across cerebellar,skull base,and brainstem regions differed significantly between groups(P=0.015),while other characteristics showed no significant differences(all P>0.05).(2)For treatment and follow-ups,all patients underwent gross total microsurgical resection.Preoperative angiography via femoral artery was performed in 22 patients,with partial preoperative embolization in 4 patients.Postoperatively,KPS improved in 39 patients,remained unchanged in 33 patients,and worsened in 10 patients.The change in KPS scores pre-to post-operatively did not differ significantly between groups(P=0.707).The recurrence rate was higher in the VHL syndrome-associated IC-HB group(4/14 vs.5.9%[4/68],P=0.026),but there was no significant difference in mortality(P=0.999).(3)For analysis of factors influencing postoperative KPS improvement,univariate Logistic regression showed preoperative asymptomatic(OR,0.05,95%CI0.00-0.39,P=0.002),preoperative dizziness(OR,2.62,95%CI 1.09-6.47,P=0.031),vertigo/imbalance(OR,3.60,95%CI 1.04-15.45,P=0.043),nausea/vomiting(OR,4.49,95%CI 1.65-13.53,P=0.003),preoperative symptoms(OR,2.27,95%CI 1.46-3.86,P<0.01)and preoperative KPS ≤70(OR,7.65,95%CI 1.60-74.47,P=0.009)were strongly associated with KPS improvement.Multivariate Logistic regression only identified the number of preoperative symptoms as an independent predictor of postoperative KPS improvement(OR,2.44,95%CI 1.04-6.32,P=0.049).(4)For survival outcome analysis,no significant differences in the risk of postoperative recurrence,KPS improvement,or death were observed between the VHL syndrome-associated and sporadic IC-HB patients(recurrence:HR,4.88,95%CI 0.97-24.69,P=0.055;KPS improvement:HR,0.60,95%CI 0.25-1.43,P=0.246;mortality:P=0.999).Kaplan-Meier curves showed no statistically significant difference in recurrence-free survival rate between groups(P=0.053).(5)In the subgroup analysis,in sporadic IC-HB patients,multivariate Logistic regression identified the number of preoperative symptoms as an independent predictor of postoperative KPS improvement(OR,1.97,95%CI 1.14-3.68,P=0.021).Due to the small sample size,reliable parameter estimation was not possible for the VHL syndrome-associated IC-HB subgroup due to the small sample size.Conclusions VHL syndrome-associated IC-HB patients have a higher risk of recurrence in comparison with sporadic IC-HB patients.The number of preoperative symptoms can guide survival ending assessment.
4.Diffusion-weighted imaging features of patent foramen ovale-related cryptogenic stroke and correlation of infarct size with cardiac CT characteristics
Shuang ZHANG ; Chong ZHENG ; Rui QIN ; Wenlei GENG ; Lijie SUN ; Jing LI ; Jie LU
Chinese Journal of Cerebrovascular Diseases 2025;22(7):465-473
Objective To characterize the features of patent foramen ovale(PFO)-related cryptogenic stroke using diffusion-weighted imaging(DWI)and to investigate the correlation between infarct size and cardiac CT characteristics of PFO.Methods A retrospective,consecutive cohort study was conducted on acute ischemic stroke patients admitted to Neurology Department of Xuanwu Hospital,Capital Medical University from January 2022 to September 2024.Patients were categorized into PFO group,arterio-arterial embolism(AAE)group,and atrial fibrillation(AF)group based on etiological diagnosis.Baseline clinical data,including age,height,body mass index,admission National Institutes of Health stroke scale(NIHSS)score,history of old cerebral infarction,hypertension,diabetes mellitus,coronary heart disease,dyslipidemia,and smoking history were collected and compared.All patients underwent head MR within 24 h of admission.DWI was used to analyze and compare infarct characteristics across the three groups,including lesion number(single or multiple),location(cortical+subcortical,deep white matter,cortical+subcortical+deep white matter,cerebellum+thalamus+brainstem),size(≥15 mm or<15 mm,based on maximum transverse diameter;for multiple lesions,if any lesion had a maximum diameter≥15 mm,it was categorized as≥15 mm),infarcted vascular territory(anterior,posterior,or both circulations),and specific arterial supply(anterior cerebral artery,middle cerebral artery,posterior cerebral artery,basilar artery,posterior inferior cerebellar artery,superior cerebellar artery,anterior choroidal artery,or multiple arteries).Patients in the PFO group additionally underwent cardiac CT to measure PFO-related parameters:tunnel length,width,height,septum secundum thickness,and fossa ovalis length.Spearman correlation analysis was performed to evaluate the relationship between infarct size and PFO cardiac CT features.Results A total of 232 acute ischemic stroke patients were included(mean age[57±17]years,ranged 19-86 years;141 males,91 females),comprising 116 in the PFO group,36 in the AAE group,and 80 in the AF group.(1)The proportion of males in the PFO group was higher than that in the AF group,it was lower than that in the AAE group.The age,body mass index and proportions of patients with hypertension,diabetes,hyperlipidemia,coronary heart disease were all lower than those in the other two groups(both P<0.016 7),while other baseline characteristics showed no significant differences(all P>0.05).(2)The PFO group exhibited a higher proportion of multiple infarcts compared to the AAE group(83.62%[97/116]vs.61.11%[22/36],P<0.016 7),but a lower proportion than the AF group(83.62%[97/116]vs.98.75%[79/80],P<0.016 7).The PFO group also showed a significantly higher proportion of cortical+subcortical infarcts(47.41%[55/116]vs.11.11%[4/36]and 6.25%[5/80],respectively,both P<0.016 7)and infarcts with a maximum diameter<15 mm compared to both AAE and AF groups(66.38%[77/116]vs.36.11%[13/36]and 11.25%[9/80],respectively,both P<0.016 7).Furthermore,the PFO group had a lower proportion of anterior circulation infarcts(27.59%[32/116]vs.69.44%[25/36]in AAE group and 67.50%[54/80]in AF group,both P<0.016 7),but a higher proportion of posterior circulation infarcts(62.07%[72/116]vs.16.67%[6/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).Specifically,middle cerebral artery infarcts were less common in the PFO group(18.97%[22/116]vs.66.67%[24/36]in AAE group and 52.50%[42/80]in AF group,both P<0.016 7),while posterior cerebral artery infarcts were more common(48.28%[56/116]vs.8.33%[3/36]in AAE group and 8.75%[7/80]in AF group,both P<0.016 7).(3)Spearman correlation analysis revealed that infarct size was negatively correlated with PFO tunnel length(rs=-0.429,P=0.029),fossa ovalis length(rs=-0.408,P=0.038),and septum secundum thickness(rs=-0.525,P=0.006),but not correlated with PFO width or height(both P>0.05).Conclusions PFO-related cryptogenic stroke is predominantly characterized by multiple small infarcts,primarily located in the cortical+subcortical regions and posterior circulation.Infarct size was found to be negatively correlated with PFO tunnel length,fossa ovalis length,and septum secundum thickness.Comprehensive assessment integrating DWI and cardiac CT features may facilitate the identification of PFO-related stroke.These findings warrant further validation through larger,prospective studies.
5.Homozygous adenosine deaminase 2 variant causing Sneddon syndrome:a case report
Fei MA ; Qinqin ZHANG ; Zhiwen LI ; Chenfei LIU ; Jun SHI ; Lihua QIAN ; Xiaoqiang LI ; Guofeng LI
Chinese Journal of Cerebrovascular Diseases 2025;22(7):497-501
Sneddon syndrome is a rare neurocutaneous disorder that primarily affects small-and medium-sized arteries.Its clinical manifestations include livedo racemosa and recurrent cerebral ischemic events,and it may also involve multiple organs such as the heart,spleen,and kidneys.This disease can lead to early-onset stroke,making it a rare cause of stroke in young adults.This article reported a case of a young female patient who experienced two cerebral infarctions within one month.Genetic testing identified a homozygous mutation in the adenosine deaminase 2 gene,confirming the diagnosis of Sneddon syndrome.This case serves as a reference to improve clinical recognition of this disease.
6.Stent-assisted coil embolization of an aneurysm associated with internal carotid artery fenestration malformation in the supraclinoid segment:a case report and literature review
Xinxin FAN ; Zhenbo LIU ; Jingwei LI ; Guilin LI ; Zhenlong JI
Chinese Journal of Cerebrovascular Diseases 2025;22(7):506-510
Supraclinoid internal carotid artery(ICA)fenestration is a rare vascular developmental variant,and this anomaly may be associated with aneurysm formation.Whether the fenestration is originated from the embryonic development of the ICA or the posterior communicating artery(PCoA)remains controversial.This article retrospectively analyzed the imaging data,diagnosis and treatment process of one patient with supraclinoid ICA fenestration combined with an aneurysm,and further literature review was conducted combining with the case study.The aim of this study was to analyze the etiology of supraclinoid ICA fenestration and its correlation with aneurysm formation,in order to improve clinicians' understanding of this rare anomaly and facilitate the formulation of appropriate treatment plans.
7.Correlation between enlarged perivascular spaces and glymphatic system function with cognitive function in patients with recent subcortical small infarction
Xue ZHANG ; Min ZHANG ; Wenwei YUN
Chinese Journal of Cerebrovascular Diseases 2025;22(7):453-464
Objective To investigate the correlation between enlarged perivascular spaces(EPVS)in different regions and glymphatic system(GS)function with cognitive function in patients with recent subcortical small infarction(RSSI).Methods A retrospective study was conducted by consecutively enrolling patients with RSSI who were hospitalized in the Department of Neurology at the Third Affiliated Hospital of Nanjing Medical University(Changzhou Second People's Hospital)from December 2023 to December 2024.Baseline and clinical data were collected,including age,sex,body mass index(BMI),history of smoking and alcohol consumption,hypertension,diabetes mellitus,atrial fibrillation,coronary heart disease,and laboratory indicators(including homocysteine,total cholesterol,triglycerides,low-density lipoprotein cholesterol,high-density lipoprotein cholesterol,glycated hemoglobin,uric acid,and creatinine).Cognitive function was assessed within 7 d of onset using the mini-mental state examination(MMSE)and Montreal cognitive assessment(MoCA)scale,which covers seven cognitive domains:visuospatial and executive functioning,naming,attention,language,abstraction,memory,and orientation.All patients underwent brain MRI within 3 d of admission,including diffusion tensor imaging(DTI)sequences.The DTI along the perivascular space(DTI-ALPS)post-processing tool was used to calculate the DTI-ALPS index on both sides,and the mean value was taken as an indicator to evaluate overall GS function.The volumes of EPVS in the basal ganglia(BG)and centrum semiovale(CSO)were measured.EPVS severity was visually rated based on Potter's method(on a scale range from 0 to 4)and categorized into a none-to-mild(grades 0-1)and a moderate-to-severe(grades 2-4)group.Patients were further classified by region into a BG-EPVS and a CSO-EPVS subgroups under each severity group.(1)Univariate analyses were performed to compare baseline characteristics,DTI-ALPS index,and cognitive assessment scores between groups.Variables with P<0.05 in univariate analyses were tested for multicollinearity using variance inflation factor.Variables without multicollinearity were included in multivariate Logistic regression to identify independent factors associated with BG-EPVS.To assess the robustness of the predictive value of the DTI-ALPS index,outlier diagnostics and exclusion were performed,followed by re-estimation of the Logistic regression model.Spearman's correlation analysis was used to examine the associations of BG-EPVS volume with the DTI-ALPS index,MMSE scale score,MoCA scale score,and each cognitive domain score.Mediation analysis was conducted to evaluate whether the DTI-ALPS index mediated the relationship between BG-EPVS volume and MoCA scale score.Results A total of 65 RSSI patients were included in the study,comprising 34 males and 3 1 females,aged 37 to 78 years,with a mean age of(53±15)years.Among them,30 patients were classified into the none-to-mild EPVS group and 35 into the moderate-to-severe EPVS group.For regional classification,34 were in the none-to-mild BG-EPVS group and 31 in the moderate-to-severe BG-EPVS group;36 were in the none-to-mild CSO-EPVS group and 29 in the moderate-to-severe CSO-EPVS group.(1)Univariate analysis showed,in both overall EPVS and BG-EPVS subgroup,the none-to-mild groups had lower age,lower proportions of male and hypertensive patients,and higher DTI-ALPS indices,MMSE scale scores,and MoCA scale scores than the moderate-to-severe groups(all P<0.05).No significant differences were found in other baseline or clinical characteristics(all P>0.05).In the CSO-EPVS subgroup,age was the only variable differed significantly between the none-to-mild group(significantly younger)and the moderate-to-severe group(P<0.05),no other variables showed significant differences between the groups(all P>0.05).(2)No multicollinearity was found among age,sex,hypertension,and the DTI-ALPS index through the multicollinearity analysis.Multivariate Logistic regression identified older age(OR,4.410,95%CI 1.211-16.025,P=0.024),male(OR,1.076,95%CI 1.001-1.156,P=0.048),and hypertension(OR,6.287,95%CI 1.635-24.167,P=0.007)as independent risk factors for moderate-to-severe BG-EPVS in RSSI patients,while a higher DTI-ALPS index was an independent protective factor(OR,0.002,95%CI 0.000-0.904,P=0.046).To assess the robustness of this model,six outlier cases were identified and excluded.After reanalysis,the negative association between the DTI-ALPS index and BG-EPVS risk remained significant(OR,0.050,95%CI 0.003-0.974,P=0.048).(3)Spearman correlation analysis revealed that the BG-EPVS volume in RSSI patients was negatively correlated with the DTI-ALPS index(rs=-0.842,P=0.007),MMSE scale score(rs=-0.491,P=0.033),MoCA scale score(rs=-0.563,P=0.018),and visuospatial/executive function score(rs=-0.596,P=0.001).No significant correlations were found between BG-EPVS volume and other cognitive domains,including naming,attention,language,abstraction,memory,and orientation(all P>0.05).(4)Mediation analysis showed that the total effect size of BG-EPVS volume on MoCA scale score was-0.673,with a direct effect size of-0.537(account for 79.79%of the total effect size)and an indirect effect size via the DTI-ALPS index of-0.136(account for 20.21%).Conclusions In RSSI patients,age,sex,hypertension,and the DTI-ALPS index were identified as independent factors associated with the severity of BG-EPVS.BG-EPVS volume was negatively correlated with the DTI-ALPS index and cognitive function scores in RSSI patients.Moreover,the DTI-ALPS index mediated the relationship between BG-EPVS volume and cognitive function in RSSI patients.
8.Characterization of cortical morphology and structural covariance network features in post-stroke patients with visuospatial neglect
Wanying ZHAO ; Lei CAO ; Weiqun SONG ; Linlin YE
Chinese Journal of Cerebrovascular Diseases 2025;22(7):474-486
Objective To investigate cortical morphological changes and structural covariance network(SCN)topological features in patients with visuospatial neglect(VSN)after stroke.Methods A retrospective analysis was conducted on acute stroke patients admitted consecutively to the Department of Rehabilitation Medicine,Xuanwu Hospital,Capital Medical University,from December 2023 to February 2025.General and clinical data were collected and compared,including age,sex,stroke type(hemorrhagic or ischemic),and time from stroke onset to first brain MRI.All patients were assessed for VSN using the line bisection task,line cancellation test,and star cancellation test.Patients with VSN were assigned to the VSN group,and those without VSN to the non-VSN group.Brain MRI was used to collect patients' brain structural images.T1-weighted MRI data were processed using Freesurfer for whole-brain segmentation.Based on the Desikan-Killiany atlas,the cortex was parcellated into 68 regions per hemisphere,total intracranial volume and cortical parameters were extracted,including cortical area(CA),mean cortical curvature(CC),cortical thickness(CT),and cortical volume(CV).A region-specific asymmetry index(AI)was calculated for cortical parameters of each brain regions using(left-right)/(left+right)to assess cortical lateralization.Analyze the SCN of each cortical parameters through covariance matrix to reflect covariation pattern of each brain region's structural morphological alternations.SCN were constructed separately for each cortical parameter based on inter-regional Pearson correlation coefficients(absolute values),with intracranial volume,age,and sex controlled via linear regression.The resulting 68×68 SCN matrices were transformed into binary networks across a sparsity range of 0.1 to 0.4(in 0.01 steps),and graph theoretical analysis were performed.Permutation tests were used to compare the global and local graph theoretical metrics of cortical SCN under each cortical parameters with different sparsity.Global metrics included clustering coefficient,path length,small-worldness parameters(normalized clustering coefficient[Gamma],normalized path length[Lambda],and small-world index[Sigma]),global efficiency,and average local efficiency.Local metrics included nodal degree,betweenness centrality,and nodal efficiency.Results(1)A total of 109 acute stroke patients were included(81 males,28 females,aged 30-80 years,mean[64±9]years),with 54 in the VSN group and 55 in the non-VSN group.No significant differences were found in age,sex,stroke type,or time from stroke onset to MRI between two groups(all P>0.05).(2)Comparison of cortical features(of different brain regions)between two groups showed significantly larger CA in the right insular surface area in the VSN group(2 466.50[2 143.75,2 662.50]mm2 vs.2 128.00[1 961.00,2 479.00)]mm2,P=0.037).No significant differences were observed in other regions or metrics(all P>0.05).The VSN group has significantly lower AI values for CT in the right isthmus cingulate gyrus(-0.01[-0.05,0.03]vs.0.02[-0.01,0.06],P=0.028)and postcentral gyrus(-0.02[-0.04,0.00]vs.0.00[-0.02,0.02],P=0.026).No significant AI differences were observed in other regions or metrics(all P>0.05).(3)For global network metrics:in the CA-based VSN,compared with the non-VSN group,Sigma values were significantly higher in the VSN group across multiple sparsity thresholds and at the average sparsity level(P<0.01).In the CT-based SCN,Lambda values were significantly higher in the VSN group at most sparsity thresholds and at the average level(P=0.004).In the CC-based SCN,clustering coefficient and average local efficiency were significantly lower in the VSN group across most sparsity thresholds and average sparsity(P<0.01).No significant differences were found in global metrics within the CV-based SCN.(4)For local metrics:in the CV-based SCN,compared with the non-VSN group,the VSN group showed significantly lower nodal efficiency in the left inferior temporal gyrus at most sparsity thresholds and at the average level(0.35[0.29,0.50]vs.0.65[0.51,0.72],P<0.01).No significant differences in local metrics were observed in other SCN between the two groups.Conclusions Patients with VSN exhibit abnormal cortical morphology and SCN topology,characterized by reduced overall integration efficiency and weakened local connectivity,alongside enhanced small-worldness and possible compensatory reorganization.The conclusions of this study require further validation in multicenter,large-scale,prospective studies.
9.Acute ischemic stroke caused by occlusion of the cervical artery due to compression of the hyoid bone:a case report
Zhifei WANG ; Yingpeng HAN ; Shanshan LI ; Xiaodong ZHOU ; Lu WANG ; Qiang GAO
Chinese Journal of Cerebrovascular Diseases 2025;22(1):34-37
Acute ischemic stroke is less likely to be caused by carotid artery occlusion related to compression from the hyoid bone.This case report described a patient with acute ischemic stroke due to hyoid bone compression-induced carotid artery occlusion who presented with speech disorder and hemiplegia,without atherosclerotic factors in the past and with exercise history.Head CT angiography showed no atherosclerosis changes in regions outside the offending vessel.Considering the anatomical relationship between hyoid bone and carotid artery,the most reasonable mechanism might be owed to repetitive mechanical compression from ipsilateral greater horn of hyoid bone.It induced endothelial damage to the carotid artery,leading to occlusion and ischemic stroke consequently.It is extremely rare in patients with ischemic stroke.Accordingly,based on the literature review,this study was conducted to explore clinical and imaging manifestations,pathogenesis,diagnosis,and treatment of this special clinical manifestation.
10.Safety and efficacy of thrombolysis in patients with acute mild ischemic stroke with tumor
Chinese Journal of Cerebrovascular Diseases 2025;22(1):3-14
Objective To investigate the safety and effectiveness of thrombolysis in patients with acute mild ischemic stroke with tumor.Methods All patients with acute mild(National Institute of Health stroke scale[NIHSS]score≤5 at admission)ischemic stroke who received intravenous thrombolysis with recombinant tissue plasminogen activator(rt-PA)or urokinase from April 1,2017 to July 1,2019 in the effectiveness of intravenous rt-PA versus urokinase for acute ischaemic stroke:a nationwide prospective Chinese registry study(INTRECIS)database were collected retrospectively,and they were divided into two groups according to whether they were accompanied by tumor or not:the combined tumor group and the non-tumor group.Collection of baseline and clinical data for all patients,including sex,age,cerebrovascular disease related risk factors(history of hypertension,diabetes mellitus,coronary artery disease,atrial fibrillation,stroke,smoking history,body mass index),baseline NIHSS score,baseline modified Rankin scale(mRS)score,baseline systolic blood pressure,baseline diastolic blood pressure,premedication use(antiplatelet agents,anticoagulants,lipid-lowering drugs),classification according to the trial of Org 10172 in acute stroke treatment,time from door to needle time,types of thrombolytic drugs(rt-PA and urokinase),and the type of tumor.Having a history of tumor is defined as having been diagnosed with a malignant tumor by a professionally certified oncologist prior to the administration of thrombolytic therapy,with no concurrent oncological treatment being received at the time of thrombolysis.Ninety days post-thrombolysis,patients were followed up through outpatient visits or telephone interviews,and their neurological status was assessed using the mRS.Score of mRS≤1 was considered as a good prognosis,while mRS score ≥ 2 indicated a poor prognosis,with a score of 6 representing death.Compare the baseline characteristics,primary safety endpoints,secondary safety endpoints,primary efficacy endpoints,and secondary efficacy endpoint events before and after 1∶1 propensity score matching(PSM)between the two groups with and without a history of tumor.The primary safety endpoint was symptomatic intracranial hemorrhage(defined as intracranial hemorrhage transformation,including parenchymal hematoma type 1,parenchymal hematoma type 2,hemorrhagic infarction type 1,hemorrhagic infarction type 2,observed on head CT within 36 h after thrombolysis,accompanied by worsening symptoms compared to at the time of thrombolysis and an increase in NIHSS score by ≥4 points from baseline)within 36 h after thrombolysis before and after 1∶1 PSM.The secondary safety endpoint is the incidence of various bleeding events within 36 h after thrombolysis,including asymptomatic intracranial hemorrhage(presence of intracranial hemorrhage without worsening of neurological deficit),systemic bleeding(other bleeding events besides intracranial hemorrhage),and mortality within 90 d after thrombolysis.The primary effectiveness endpoint was the proportion of patients with a good prognosis at 90 d after thrombolysis,and the secondary effectiveness endpoint was the proportion of patients with an NIHSS score≤1 at 1 d after thrombolysis.Before 1∶1 PSM,baseline characteristics that exhibited a P-value<0.1 when compared between the two groups were included in a multivariate Logistic regression analysis for adjustment.The differences in safety and efficacy endpoint events after intravenous thrombolysis between the two groups were compared before and after adjustment.After 1∶1 PSM,univariate binary Logistic regression analysis was conducted to assess whether there were significant differences in the safety and effectiveness of intravenous thrombolysis among acute mild ischemic stroke patients between those with and without tumor.Results A total of 1 680 patients with acute mild ischemic stroke,aged between 26 and 93 years,with a median age of 63(54,70)years,were included in this study,including 32 patients with tumor(including 3 cases of nasopharyngeal cancer,3 cases of rectal cancer,3 cases of reproductive system cancer,4 cases of breast cancer,5 cases of lung cancer,1 case of liver cancer,and 2 cases of gastric cancer and 11 cases of other tumors)and 1 648 patients without tumor.There were 32 cases in both groups after 1∶1 PSM.(1)Before 1∶1 PSM,patients with tumor group were older than those in the non-tumor group(67[61,74]years vs.62[54,70]years,P=0.01).After 1∶1 PSM,there were no statistically significant differences in baseline characteristics between the two groups(all P>0.05).(2)Primary safety endpoints:before 1∶1 PSM,there was no patient had symptomatic intracranial hemorrhage,asymptomatic intracranial hemorrhage,systemic bleeding in the group with tumor,while 0.4%(6/1 648),1.0%(17/1 648),0.2%(3/1 648)occurred respectively in the group without tumor.There were no statistically significant differences in both primary and secondary safety endpoints between the two groups(both P=0.99).After 1∶1 PSM,neither group experienced symptomatic intracranial hemorrhage,asymptomatic intracranial hemorrhage,or systemic hemorrhage.No deaths occurred in the tumor group within 90 d after thrombolysis,while one death occurred in the non-tumor group.(3)Primary efficacy endpoints:before 1∶1 PSM,there was no statistically significant difference in the proportion of patients with good prognosis at 90 d after intravenous thrombolysis between the two groups(90.6%[29/32]vs.86.9%[1 432/1 648],P=0.54).After adjusting for confounding factors such as age and coronary heart disease,there was no statistically significant difference(OR,1.58,95%CI0.48-5.26,P=0.45)in the proportion of patients with a good prognosis at 90 d after intravenous thrombolysis between the two groups.After 1∶1 PSM,90.6%(29/32)patients in the tumor group had a good prognosis at 90d after intravenous thrombolysis,while 84.4%(27/32)patients in the non-tumor group,there was no statistically significant difference between the two groups(OR,0.56,95%CI 0.12-2.57,P=0.71).Secondary efficacy endpoint:before 1∶1 PSM,there was no statistically significant difference in the proportion of patients with an NIHSS score≤1 at 1 d after intravenous thrombolysis(37.5%[12/32]vs.48.2%[795/1 648],P=0.23),after adjusting for confounding factors such as age and coronary heart disease,the results suggest that there was no statistically significant difference in the proportion of patients with an NIHSS score≤1 at 1 d after intravenous thrombolysis(OR,0.65,95%CI 0.32-1.34,P=0.24).After 1∶1 PSM,the proportion of patients with an NIHSS score≤1 at 1 d after thrombolysis was 37.5%(12/32)in both patient groups,there was no statistically significant difference between the two groups(OR,1.00,95%CI 0.36-2.75,P=0.99).Conclusions Compared with patients without tumor,acute mild ischemic stroke in China with tumor may exhibit similar safety and effectiveness in receiving intravenous thrombolysis with rt-PA or urokinase.The findings of this study await further validation through randomized controlled trials.

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