Neurologist最新文献

Objective: This study aimed to explore the burden of magnetic resonance imaging (MRI) of cerebral small vessel disease (CSVD) in patients with thalassemia and related risk factors.

Methods: The clinical data and MRI of patients with thalassemia were retrospectively analyzed, and non-thalassemia controls with matched sex and age were selected. The modified MRI burden of CSVD included recent small subcortical infarct, presumed vasogenic white matter hyperintensity, presumed vasogenic lacunae, perivascular space (PVS), and brain atrophy.

Results: This study included 110 patients in each of the thalassemia and control groups. There was no significant difference in sex, age, and common cerebrovascular disease risk factors between the 2 groups. The patients with thalassemia had a higher red blood cell count and lower content of hemoglobin. The PVS and modified MRI burden scores in the thalassemia group were higher than in the control group. With the increase in age, patients with thalassemia have a more severe CSVD burden.

Conclusion: Patients with thalassemia have a heavier modified MRI burden of CSVD than non-thalassemia patients, particularly PVS, and aging is an important risk factor for CSVD changes.

Objective: This study aimed to examine the association of the systemic immune-inflammation index (SII) with stroke and mortality rates using data from the National Health and Nutrition Examination Survey (NHANES).

Methods: A cross-sectional study was conducted using the aggregated data from 5 cycles (2009 to 2018) of NHANES. SII was the independent variable, and stroke was the dependent variable. Weighted logistic regression models were employed to analyze their relationship. The nonlinear association between SII and stroke was examined using the restricted cubic spline (RCS) method in subgroups stratified by smoking status, hypertension, and dietary inflammatory index. Weighted Kaplan-Meier curves and Cox regression analysis were used to investigate the association of SII with all-cause mortality and cardiovascular disease (CVD) mortality.

Results: A total of 22,107 samples were included in this study. Weighted logistic regression analysis showed a significant correlation between SII and stroke (OR: 1.53, 95% CI: 1.22-1.92, P<0.001). The stratified analysis revealed that interactions of smoking status and hypertension with SII, respectively, had significant impacts on stroke risk. A remarkable positive link between SII and stroke risk (OR>1, P<0.05) was observed in the crude model (unadjusted for confounding factors), model I (adjusted for demographic characteristics), and model II (adjusted for all confounding factors). RCS analysis displayed a remarkable nonlinear positive correlation between SII and stroke risk only in the "now smoking" population (P-nonlinear<0.05) after adjusting for all confounding factors. In the overall sample population, Kaplan-Meier curves indicated that individuals in the highest quartile of SII had the highest risk of all-cause mortality and CVD mortality (log-rank test P<0.05). Samples with proinflammatory dietary habits had considerably higher risks of all-cause mortality and CVD mortality compared with those with anti-inflammatory dietary habits (log-rank test P<0.05). Multivariable-adjusted Cox regression models showed significantly increased all-cause mortality and CVD mortality rates in the highest quartile of SII compared with the lowest quartile.

Conclusions: SII levels were considerably positively linked to stroke risk, particularly in the "now smoking" population. Moreover, elevated SII levels increased the risk of all-cause mortality and CVD mortality in the overall population. On the basis of these findings, we recommend incorporating smoking cessation measures into stroke risk reduction strategies.

Introduction: We report a rare case of moyamoya disease caused by an RNF213 mutation, complicated with systemic lupus erythematosus.

Case report: A 32-year-old woman experienced 4 cerebral ischemia stroke events within 6 months. The main symptom was left limb weakness with blurred vision in the right eye. Results of digital subtraction angiography conducted at another hospital were consistent with moyamoya disease. On genetic testing, we found that the patient carried 2 mutations in the moyamoya disease-related gene RNF213 (p.R4810K, p.T1727M). On the basis of the laboratory immunologic indicators, such as positive antibodies and abnormal immunoglobulin levels and imaging examinations, the patient was finally diagnosed as moyamoya disease complicated with systemic lupus erythematosus. She was treated with aspirin, butylphthalide, urinary kallidinogenase, and sodium methylprednisolone.

Conclusions: This was a 32-year-old young patient diagnosed with moyamoya disease carrying RNF213 gene mutation and accompanied by lupus with cerebral ischemic event as the first occurrence. The patient's condition was complex; therefore, comprehensive analysis and in-depth consideration were needed to avoid a missed diagnosis and misdiagnosis. When the primary disease cannot be identified, genetic testing can help to clarify the diagnosis of moyamoya disease.

Objective: To investigate whether baseline systemic immune-inflammation index (SII) is associated with 3-month poor prognosis and early neurological outcomes in patients with acute ischemic stroke treated with intravenous thrombolysis.

Patients and methods: A total of 221 consecutive patients were enrolled in the retrospective study. The primary endpoints were poor functional outcomes or death at 3 months. Secondary endpoints were early neurological deterioration (END) or symptomatic intracerebral hemorrhage within 24 hours. Receiver operating characteristic curve analyses was performed to assess the overall discriminative ability of SII in predicting the 4 endpoints. We also performed the Spearman correlation test to evaluate the relationship between SII and stroke severity. Univariable and multivariable logistic regression analyses were performed to evaluate the associations between SII and endpoints.

Results: The cutoff values of SII were 504.99×10 9 /L for predicting a 3-month poor prognosis (sensitivity, 70.9% and specificity, 69.6%), 524.47×10 9 /L for predicting 3-month death (sensitivity, 78.9% and specificity, 59.9%) and 504.99×10 9 /L for predicting END (sensitivity, 70.7% and specificity, 62.6%), respectively. A positive association between SII and the National Institutes of Health Stroke Scale was observed ( rs = 0.306, P < 0.001). Multivariable analyses indicated that SII was independently associated with 3-month poor prognosis [odds ratio (OR) = 5.384; 95% CI: 2.844-10.193; P < 0.001], 3-month death (OR = 2.592, 95% CI: 1.046-6.421, P = 0.040) and END (OR = 3.202, 95% CI: 1.796-5.707, P < 0.001).

Conclusion: Increased baseline SII was associated with END and 3-month poor outcomes, and may act as a potential prognostic predictor for acute ischemic stroke patients treated with intravenous thrombolysis.

Background: Patients with spontaneous intracerebral hemorrhage (sICH) are at high risk for venous thromboembolism (VTE). The administration of mechanical and pharmacological VTE prophylaxis after sICH is important but challenging. The safety and efficacy of the optimal anticoagulant dose, timing, and type of VTE chemoprophylaxis in cases of sICH are still unclear, and clinicians are concerned that it may lead to cerebral hematoma expansion, which is associated with poor prognosis. Through this literature review, we aim to summarize the latest guidelines, recommendations, and clinical research progress to support evidence-based treatment strategies.

Review summary: It has been proven that intermittent pneumatic compression can effectively reduce the risk of VTE and should be used at the time of hospital admission, whereas gradient compression stockings or lack of prophylaxis in sICH cases are not recommended by current guidelines. Studies regarding pharmacological VTE prophylaxis in patients with ICH were reviewed and summarized. Prophylactic anticoagulation for VTE in patients with ICH seems to be safe and was not associated with cerebral hematoma expansion. Meanwhile, the prophylactic efficacy of anticoagulation for pulmonary embolism seems to be more obvious than that of deep vein thrombosis in patients with ICH.

Conclusions: Clinicians should pay attention to the prevention and management of VTE after sICH. Intermittent pneumatic compression should be applied to patients with sICH on the day of hospital admission. After documentation of bleeding cessation, early initiation of pharmacological VTE prophylaxis (24 h to 48 h from sICH onset) seems to be safe and effective in pulmonary embolism prophylaxis.

Background: Mechanical thrombectomy has become a key treatment option for acute ischemic stroke. This study compared the safety and efficacy of aspiration catheter CAT6 and 5 Fr Navien.

Methods: Thrombectomy was performed in103 patients with the acute internal carotid artery, middle cerebral artery M1 or M2 occlusions, including the CAT6 group (n=53 with stent retriever and CAT6 aspiration) and the 5 Fr Navien group (n=50 with stent retriever and 5 Fr Navien aspiration) at the Advanced Stroke Center.

Results: Overall, an aspiration catheter placement success rate was achieved in 93.2% of cases, 52 (98.11%) for CAT6, and 44 (88.00%) for 5 Fr Navien ( P =0.042). Overall, 17 cases (16.51%) required additional guidewire rates, 5.66% for CAT6, and 13.592% for 5 Fr Navien ( P =0.002). First-pass success rate (FPSR) was achieved in 38.84% of cases overall, a rate that did not differ significantly between catheters: 45.28% for CAT6; 32.00% for 5 Fr Navien ( P =0.167). Final thrombolysis in cerebral infarction 2b or 3 reperfusion was achieved in 91.26% of cases overall, 51 (96.23%) for CAT6, and 43 (86%) for 5 Fr Navien ( P =0.066). The participants had a mean number of passes for the index thrombus of 1.956 and a median procedure time of 65.82±21.8 minutes. There was no significant difference found in 90-day good outcome (mean 42.7%, modified Rankin Score 0 to 2) and 90-day mortality (17%) between CAT6 and 5 Fr Navien.

Conclusion: Aspiration catheter placement success rate and first-pass success rate seemed to be higher for CAT6 and, moreover, the rate of additional guidewires was lower.

Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative condition caused by prion proteins. Cortical and subcortical diffusion-weighted imaging restriction on magnetic resonance imaging (MRI) is associated with sCJD. Posterior reversible encephalopathy syndrome (PRES) results from impaired vessel autoregulation due to an identifiable trigger, which is associated with subcortical fluid-attenuated inversion recovery changes on MRI. We report a case of sCJD initially presenting with PRES.

Case report: A 70-year-old woman presented to an outside hospital with progressive confusion and difficulty in managing activities of daily living. Initial examination revealed stuporous mental state and stimulus-induced myoclonus. MRI revealed bilateral subcortical occipital lobe T2-fluid-attenuated inversion recovery hyperintensities without contrast enhancement suggestive of PRES. Electroencephalogram (EEG) revealed frequent generalized periodic discharges meeting criteria for nonconvulsive status epilepticus. Clinical examination and EEG did not improve despite escalating antiseizure medications. Initial lumbar puncture was unremarkable. She was transferred to our hospital with a presumptive diagnosis of PRES, although there was no clear trigger. Continuous EEG revealed ongoing generalized periodic discharges with myoclonic activity meeting criteria for myoclonic seizures that were refractory to multiple antiseizure medications. Repeat MRI showed resolution of PRES but revealed subtle diffuse cortical diffusion-weighted imaging restriction. Repeat lumbar puncture was performed and 14-3-3 and real-time quaking-induced conversion returned positive, confirming sCJD.

Conclusions: This case reports highlights that sCJD can present with neuroimaging consistent with PRES. The diagnosis of sCJD should be considered in patients with PRES who continue to show neurological decline despite optimal management and radiographic improvement of PRES on MRI. Further research is needed to identify a pathophysiological relationship between these clinical phenotypes.

Introduction: Systemic lupus erythematosus (SLE) is a heterogenous, devastating autoimmune inflammatory disease with multiorgan involvement. A variety of neurological and psychiatric symptoms may be caused by nervous system involvement, termed neuropsychiatric systemic lupus erythematosus.

Case report: We describe a young man newly diagnosed with SLE who had a stroke as an initial symptom and was found to have cerebral large-vessel vasculitis and Fahr syndrome.

Conclusions: The novelties of this report are the extensive cerebral calcification demonstrated on head computerized tomography in a patient with SLE, and the depiction of an underlying vasculitis on high-resolution magnetic resonance vessel wall imaging. It is our aim to describe this atypical form of neuropsychiatric systemic lupus erythematosus onset and to make known the usefulness of the new magnetic resonance imaging techniques for the diagnosis of cerebral large-vessel vasculitis.

Introduction: Mutations in type IV collagen gene COL4A1 are identified as a cause of autosomal dominant cerebrovascular disease. We report an unusual late-onset presentation.

Case report: A 64-year-old male was found to have an ischemic stroke and diffuse white matter changes. Genetic testing revealed COL4A1 gene mutation of heterozygous Alu insertion at intron 16. Alu elements are known as "jumping genes," and Alu insertion is not previously reported in COL4A1 genetic syndromes. Our case has attributes consistent with a heritable leukoencephalopathy: (1) late-onset presentation, (2) intracerebral hemorrhages and microbleeds, (3) bilateral symmetrical leukoencephalopathy, (4) recurrence over a short period of time, (5) bilateral retinopathy, and (6) family history notable for brain aneurysm, kidney diseases, and early-onset stroke.

Conclusions: Although the majority of COL4A1 genetic syndromes featuring cerebral small vessel disease are in children, this case highlights a late-onset patient with key features of COL4A1 syndromes associated with a heterozygous Alu intronic insertion.

Background: The tongue is an essential organ for the development of certain crucial functions such as swallowing and speech. The examination of the tongue can be very useful in neurology, as the various types of lingual alterations can lead to certain specific diagnoses, the tongue being a kind of 'mirror' of some neurological function.

Review summary: To discuss the elements of clinical examination of the tongue in relation to neurological disorders. After reviewing the different superficial lesions of the tongue, we deal with various movement disorders of the tongue (fasciculations/myokimia, orolingual tremor, choreic movements of the tongue, dystonia of the tongue, lingual myoclonus, and psychogenic movements), disorders of taste and lingual sensitivity and lingual pain.

Conclusions: Examination of the tongue should not be limited to studying its motility and trophicity. It is equally important to check the sensory function and understand how to interpret abnormal movements involving the tongue. This study also aimed to demonstrate the importance of nonmotor tongue function in neurological practice.