Annals of Clinical and Translational Neurology最新文献

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Comprehensive multicentre retrospective analysis for predicting isocitrate dehydrogenase-mutant lower-grade gliomas. 预测异柠檬酸脱氢酶突变低级别胶质瘤的综合多中心回顾性分析。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-18 DOI: 10.1002/acn3.52251
Dongxu Zhao, Lin Duan, Tareq A Juratli, Fazheng Shen, Liyun Zhou, Shulin Cui, Hang Zhang, Hang Ren, Luyao Cheng, Hailan Wang, Wenhan Shi, Tianxiao Li, Ming Li
{"title":"Comprehensive multicentre retrospective analysis for predicting isocitrate dehydrogenase-mutant lower-grade gliomas.","authors":"Dongxu Zhao, Lin Duan, Tareq A Juratli, Fazheng Shen, Liyun Zhou, Shulin Cui, Hang Zhang, Hang Ren, Luyao Cheng, Hailan Wang, Wenhan Shi, Tianxiao Li, Ming Li","doi":"10.1002/acn3.52251","DOIUrl":"https://doi.org/10.1002/acn3.52251","url":null,"abstract":"<p><strong>Objective: </strong>To differentiate glioma grading and determine isocitrate dehydrogenase (IDH) mutation status, which are crucial for prognosis assessment and treatment planning in glioma patients.</p><p><strong>Methods: </strong>This retrospective study included patients diagnosed with adult diffuse glioma from 1 January, 2018 to 31 July, 2023 in two independent institutions. It documented and analysed clinical and radiographic features. A nomogram model was constructed using stepwise regression to predict lower-grade gliomas and IDH mutation status.</p><p><strong>Results: </strong>A total of 383 adult patients with diffuse glioma were included in the study, with Cohort A (297 patients) serving as the training set and Cohort B (86 patients) serving as the validation cohort. Consistent with previous reports, the Hyper fluid-attenuated inversion recovery (FLAIR) rim sign exhibited higher sensitivity in lower-grade gliomas for IDH mutant gliomas compared with the T2-FLAIR mismatch sign. However, the Hyper FLAIR rim sign was also present in Grade 4 gliomas, and thus, the T2-FLAIR mismatch sign exhibited better clinical efficacy in predicting glioma grade and IDH mutation compared with the Hyper FLAIR rim sign in clinical applications. Meanwhile, preoperative magnetic resonance spectroscopy (MRS) indicators, particularly the Cho/Cr ratio, have shown excellent performance in predicting glioma grade and IDH mutation status. The nomogram developed through stepwise regression demonstrated excellent predictive capabilities in distinguishing glioma grade and IDH mutation status.</p><p><strong>Interpretation: </strong>Combining imaging and molecular features, the predictive model established in this study offers a reliable non-invasive tool for predicting glioma grading and IDH mutation status, aiding the clinical decision-making process and improving patient management.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incremental clinical value of intraplaque neovascularization in predicting recurrent ischemic stroke. 斑块内新生血管在预测缺血性脑卒中复发方面的临床增量价值。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-18 DOI: 10.1002/acn3.52255
Liuping Cui, Ran Liu, Fubo Zhou, Bing Tian, Ying Chen, Yingqi Xing
{"title":"Incremental clinical value of intraplaque neovascularization in predicting recurrent ischemic stroke.","authors":"Liuping Cui, Ran Liu, Fubo Zhou, Bing Tian, Ying Chen, Yingqi Xing","doi":"10.1002/acn3.52255","DOIUrl":"https://doi.org/10.1002/acn3.52255","url":null,"abstract":"<p><strong>Objective: </strong>Carotid intraplaque neovascularization (IPN) detected by contrast-enhanced ultrasound (CEUS) is a risk factor for recurrent ischemic stroke. However, it is still unclear whether IPN can be used to accurately identify patients with recurrent ischemic stroke in clinical practice. Herein, we investigated the clinical predictive value of IPN for recurrent ischemic stroke in a real-world setting.</p><p><strong>Methods: </strong>We enrolled 200 patients with ischemic stroke and atherosclerotic carotid stenosis who were followed up for 2 years. The endpoint was recurrent ischemic stroke. Cox regression and subgroup analyses were employed to assess whether treatment affected the relationship between IPN and recurrent ischemic stroke. The net classification index (NRI) and integrated discriminant improvement index (IDI) were used to validate the additional clinical value of IPN in identifying recurrent ischemic stroke.</p><p><strong>Results: </strong>During the 2-year follow-up, 36 patients experienced recurrent ischemic stroke. Cox regression analyses showed that IPN (grade 2), hypoechoic plaque, high homocysteine levels, and smoking were independent risk factors for recurrent ischemic stroke. Additional IPN evaluation may increase the NRI (0.512; 95% confidence interval [CI]: 0.083-0.624) and IDI (0.151; 95% CI: 0.010-0.213) for identifying high-risk patients with recurrent ischemic stroke. In addition, in the subgroup undergoing revascularization, the proportion of IPN (grade 2) was significantly higher in patients with recurrent ischemic stroke than in patients with nonrecurrent ischemic stroke (p = 0.001).</p><p><strong>Interpretation: </strong>In clinical settings, IPN, assessed by CEUS, may provide additional clinical value for predicting recurrent ischemic stroke, helping to identify patients with ischemic stroke who require close follow-up.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotypic and oncological insights in ANNA1 autoimmunity: Age stratification and biomarker analysis. ANNA1 自身免疫的表型和肿瘤学见解:年龄分层和生物标志物分析
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-18 DOI: 10.1002/acn3.52254
Naveen Kumar Paramasivan, Majed Masoud, Carley Karsten, Anza Zahid, Haidara Kherbek, Anastasia Zekeridou, Sri Raghav Sista, Surendra Dasari, Andrew M Knight, Georgios Mangioris, John R Mills, Andrew McKeon, Sean J Pittock, Divyanshu Dubey
{"title":"Phenotypic and oncological insights in ANNA1 autoimmunity: Age stratification and biomarker analysis.","authors":"Naveen Kumar Paramasivan, Majed Masoud, Carley Karsten, Anza Zahid, Haidara Kherbek, Anastasia Zekeridou, Sri Raghav Sista, Surendra Dasari, Andrew M Knight, Georgios Mangioris, John R Mills, Andrew McKeon, Sean J Pittock, Divyanshu Dubey","doi":"10.1002/acn3.52254","DOIUrl":"https://doi.org/10.1002/acn3.52254","url":null,"abstract":"<p><strong>Objective: </strong>To describe the phenotypes, oncological associations, biomarker profiles, and outcomes across different age groups in patients with ANNA1 (anti-Hu) autoimmunity.</p><p><strong>Methods: </strong>A retrospective review of patients with ANNA1-IgG in serum/CSF between January 1, 2001, and December 31,2019 was performed. Patients were classified into three groups based on the age of symptom onset. Phage immunoprecipitation sequencing (PhIP-Seq) and neurofilament light chain (NfL) measurements were done in patient sera/CSF with archived samples.</p><p><strong>Results: </strong>Of 122 patients, 81 (66%), 20 (16%), and 21 (17%) patients belonged to older adults, young adults, and pediatric groups, respectively. Lung cancer and neuromuscular presentations were more common in older adults (p < 0.001), while limbic encephalitis and neuroblastoma were more common in pediatric patients (p < 0.005). Most young adults (75%) did not have cancer identified. Proportions of patients with a favorable response to immunotherapy were 20%, 30%, and 52% among older adults, young adults, and pediatric groups, respectively. PhIP-Seq demonstrated significant enrichment for ELAVL4 peptides especially for amino acids 240-289, in the majority of samples evaluated (36/67, 54%). ZIC and SOX2 peptides were significantly enriched in those with central nervous system presentations. Serum NfL levels were elevated in patients with cancer and those with poor long-term outcomes.</p><p><strong>Interpretation: </strong>Young adults with ANNA1 autoimmunity phenotypically resembled older adults but rarely had an underlying cancer. Pediatric patients frequently presented with limbic encephalitis and neuroblastoma and often responded favorably to immunotherapy. Distinct antigenic signatures may underlie differences in clinical presentations. Serum NfL levels may be a biomarker of poor long-term outcomes in ANNA1 autoimmunity.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dopaminergic therapy disrupts decision-making in impulsive-compulsive Parkinsonian patients. 多巴胺能疗法会干扰帕金森病冲动强迫症患者的决策。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-18 DOI: 10.1002/acn3.52249
Fabio Taddeini, Erica Ordali, Alessandra Govoni, Francesca Piattellini, Simone Valente, Luca Caremani, Alberto A Vergani, Ahmet Kaymak, Aldo Rustichini, Eleonora Russo, Chiara Rapallini, Silvia Ramat, Alberto Mazzoni
{"title":"Dopaminergic therapy disrupts decision-making in impulsive-compulsive Parkinsonian patients.","authors":"Fabio Taddeini, Erica Ordali, Alessandra Govoni, Francesca Piattellini, Simone Valente, Luca Caremani, Alberto A Vergani, Ahmet Kaymak, Aldo Rustichini, Eleonora Russo, Chiara Rapallini, Silvia Ramat, Alberto Mazzoni","doi":"10.1002/acn3.52249","DOIUrl":"https://doi.org/10.1002/acn3.52249","url":null,"abstract":"<p><p>Impulsive-compulsive behaviors (ICB) are common non-motor symptoms of Parkinson's disease (PD) often associated with dopaminergic drugs (DD) therapy. We investigated the acute effects of DD on decision-making in PD patients with ICB (ICB+) and without it (ICB-), and in healthy controls (HC). Participants performed a risk-based decision-making task twice, with PD patients tested before (DD OFF) and after (DD ON) DD intake. In DD OFF, all groups developed a risk-averting strategy. In DD ON, ICB+ patients (but not ICB- nor HC) reverted to riskier choices. We conclude that DD has a specific strong acute effect on ICB+ patients' decision-making.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Determinants of long-term paramagnetic rim lesion evolution in people with multiple sclerosis. 多发性硬化症患者长期顺磁边缘病变演变的决定因素。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-18 DOI: 10.1002/acn3.52253
Jack A Reeves, Alexander Bartnik, Maryam Mohebbi, Murali Ramanathan, Niels Bergsland, Dejan Jakimovski, Gregory E Wilding, Fahad Salman, Ferdinand Schweser, Bianca Weinstock-Guttman, David Hojnacki, Svetlana Eckert, Francesca Bagnato, Michael G Dwyer, Robert Zivadinov
{"title":"Determinants of long-term paramagnetic rim lesion evolution in people with multiple sclerosis.","authors":"Jack A Reeves, Alexander Bartnik, Maryam Mohebbi, Murali Ramanathan, Niels Bergsland, Dejan Jakimovski, Gregory E Wilding, Fahad Salman, Ferdinand Schweser, Bianca Weinstock-Guttman, David Hojnacki, Svetlana Eckert, Francesca Bagnato, Michael G Dwyer, Robert Zivadinov","doi":"10.1002/acn3.52253","DOIUrl":"https://doi.org/10.1002/acn3.52253","url":null,"abstract":"<p><strong>Objective: </strong>Baseline paramagnetic rim lesion (PRL) load predicts disease progression in people with multiple sclerosis (pwMS). Understanding how PRLs relate to other known MS-related factors, and the practical utility of PRLs in clinical trials, is crucial for informing clinical decision-making and guiding development of novel disease-modifying treatments (DMTs).</p><p><strong>Methods: </strong>This study included 152 pwMS enrolled in a larger prospective, longitudinal cohort study who had 3T MRI scans and clinical assessments at baseline and 5- or 10-year follow-ups. PRLs were identified on baseline 3T quantitative susceptibility maps and classified as persisting, disappearing, or newly appearing at follow-up. The relationships between PRL evolution and clinical, radiological, environmental, and genetic characteristics were assessed, and clinical trial sample sizes were estimated using PRL appearance or disappearance as outcome measures.</p><p><strong>Results: </strong>DMT use was associated with lower odds of new PRL appearance (for high-efficacy DMTs: odds ratio = 0.088, p = 0.024), but not disappearance. Current smoking status was associated with greater baseline PRL number (B = 0.527 additional PRLs, p = 0.013). A 24-month clinical trial in people with progressive MS for a DMT that doubles the rate of PRL rim disappearance would require an estimated 118 people with progressive MS per group at 80% statistical power.</p><p><strong>Interpretation: </strong>Early MS diagnosis and subsequent DMT initiation may reduce new chronic active inflammation. However, the utility of PRL disappearance or new PRL appearance as outcome measures in clinical trials is limited by potentially large sample sizes that are needed for moderate efficacy drugs.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Automated assessment of EEG background for neurodevelopmental prediction in neonatal encephalopathy. 自动评估脑电图背景以预测新生儿脑病的神经发育。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-14 DOI: 10.1002/acn3.52233
Micheline Lagacé, Saeed Montazeri, Daphne Kamino, Eva Mamak, Linh G Ly, Cecil D Hahn, Vann Chau, Sampsa Vanhatalo, Emily W Y Tam
{"title":"Automated assessment of EEG background for neurodevelopmental prediction in neonatal encephalopathy.","authors":"Micheline Lagacé, Saeed Montazeri, Daphne Kamino, Eva Mamak, Linh G Ly, Cecil D Hahn, Vann Chau, Sampsa Vanhatalo, Emily W Y Tam","doi":"10.1002/acn3.52233","DOIUrl":"10.1002/acn3.52233","url":null,"abstract":"<p><strong>Objective: </strong>Assess the capacity of brain state of the newborn (BSN) to predict neurodevelopment outcomes in neonatal encephalopathy.</p><p><strong>Methods: </strong>Trends of BSN, a deep learning-based measure translating EEG background to a continuous trend, were studied from a three-channel montage long-term EEG monitoring from a prospective cohort of 92 infants with neonatal encephalopathy and neurodevelopmental outcomes assessed by Bayley Scales of Infant Development, 3rd edition (Bayley-III) at 18 months. Outcome prediction used categories \"Severe impairment\" (Bayley-III composite score ≤70 or death) or \"Any impairment\" (score ≤85 or death).</p><p><strong>Results: </strong>\"Severe impairment\" was predicted best for motor outcomes (24 h area under the curve (AUC) = 0.97), followed by cognitive (36 h AUC = 0.90), overall (24 h AUC = 0.84), and language (24 h AUC = 0.82). \"Any impairment\" was best predicted for motor outcomes (12 h AUC = 0.95), followed by cognitive (24 h AUC = 0.85), overall (12 h AUC = 0.75), and language (12 and 24 h AUC = 0.68). Optimal BSN cutoffs for outcome predictions evolved with the postnatal age. Low BSN scores reached a 100% positive prediction of poor outcomes at 24 h of age.</p><p><strong>Interpretation: </strong>BSN is an excellent predictor of adverse neurodevelopmental outcomes in survivors of neonatal encephalopathy after therapeutic hypothermia, even at 24 h of life. The trend provides a fully automated, objective, quantified, and reliable interpretation of EEG background. The high temporal resolution supports continuous bedside brain assessment and early prognostication during the initial dynamic recovery phase.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intermittent hypoxia training improves cerebral blood flow without cognitive impairment. 间歇性缺氧训练可改善脑血流量,但不会损害认知能力。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-14 DOI: 10.1002/acn3.52248
Qihan Zhang, Qing Wang, Feiyang Jin, Dan Huang, Xunming Ji, Yuan Wang
{"title":"Intermittent hypoxia training improves cerebral blood flow without cognitive impairment.","authors":"Qihan Zhang, Qing Wang, Feiyang Jin, Dan Huang, Xunming Ji, Yuan Wang","doi":"10.1002/acn3.52248","DOIUrl":"10.1002/acn3.52248","url":null,"abstract":"<p><strong>Objective: </strong>Brief exposure to intermittent hypoxia has been shown to potentially induce protective effects in the body. Animal studies suggest that intermittent hypoxia could increase cerebral blood flow and confer resistance to subsequent hypoxic-ischemic injury, yet clinical investigations are limited. This study aimed to evaluate the impact of a moderate short-term intermittent hypoxia protocol on cerebral blood flow and cognitive performance.</p><p><strong>Methods: </strong>Subjects who met the inclusion criteria were recruited to this study and randomized into the intermittent hypoxia group or the control group, which receives intermittent hypoxia training and sham-intermittent hypoxia training, respectively. Cerebral hemodynamics, cognitive performance, cerebral perfusion pressure, and oxygen saturation were assessed before and after the intervention.</p><p><strong>Results: </strong>A total of 100 healthy participants were included in this study. Compared to the control group, the intermittent hypoxia group exhibited higher peak systolic blood flow velocity (108.64 ± 22.53 vs. 100.21 ± 19.06, p = 0.049) and cerebrovascular conduction index (0.74 ± 0.17 vs. 0.66 ± 0.21, p = 0.027), and lower cerebrovascular resistance index (1.41 ± 0.29 vs. 1.54 ± 0.36, p = 0.044) following intermittent hypoxia training. Additionally, within-group comparisons revealed that intermittent hypoxia training led to increased cerebral blood flow velocity, elevated cerebrovascular conductance index, and decreased cerebrovascular resistance index (p < 0.05). Other indicators including cognitive function, cerebral perfusion pressure, and oxygen saturation did not exhibit significant differences between groups.</p><p><strong>Interpretation: </strong>These findings revealed that intermittent hypoxia may represent a safe and effective strategy for improving cerebral blood flow.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emergent responsive neurostimulation in pediatric super-refractory epilepsia partialis continua. 小儿超难治性癫痫部分性持续状态的紧急反应性神经刺激。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-14 DOI: 10.1002/acn3.52199
Peter N Hadar, Pranav Nanda, Katherine G Walsh, John McLaren, Alexandra Geffrey, Mirela Simon, Kristopher Kahle, R Mark Richardson, Catherine J Chu
{"title":"Emergent responsive neurostimulation in pediatric super-refractory epilepsia partialis continua.","authors":"Peter N Hadar, Pranav Nanda, Katherine G Walsh, John McLaren, Alexandra Geffrey, Mirela Simon, Kristopher Kahle, R Mark Richardson, Catherine J Chu","doi":"10.1002/acn3.52199","DOIUrl":"https://doi.org/10.1002/acn3.52199","url":null,"abstract":"<p><p>Focal status epilepticus, particularly the motor variant of epilepsia partialis continua (EPC), is a rare condition characterized by near-continuous, chronic focal motor seizures, and associated with poor outcomes. Medications, including anesthetics, are often unsuccessful. Surgical resection can result in motor deficits. We report a medically complex pediatric case of super-refractory EPC that was successfully managed with combined focal resection and responsive neuromodulation. This case introduces neuromodulation as a treatment modality for this challenging condition.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study. 帕金森病 LRRK2 变体的临床特征和进展:前瞻性研究
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-11 DOI: 10.1002/acn3.52244
Tingwei Song, Xiaoxia Zhou, Chunyu Wang, Heng Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Lifang Lei, Qian Xu
{"title":"Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study.","authors":"Tingwei Song, Xiaoxia Zhou, Chunyu Wang, Heng Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Lifang Lei, Qian Xu","doi":"10.1002/acn3.52244","DOIUrl":"https://doi.org/10.1002/acn3.52244","url":null,"abstract":"<p><strong>Objective: </strong>We established a prospective cohort study to investigate the differences in motor and non-motor symptoms between idiopathic Parkinson's disease (IPD) and Parkinson's disease in carriers of leucine-rich repeat kinase 2 (LRRK2) gene risk variants (LRRK2-PD).</p><p><strong>Methods: </strong>The study included 1407 individuals with IPD and 649 individuals with LRRK2-PD (comprising 304 with LRRK2-G2385R, 220 with LRRK2-R1628P, and 105 with LRRK2-A419V). Differences in symptoms between LRRK2-PD and IPD were analyzed using LCMM modeling and Cox regression analysis.</p><p><strong>Results: </strong>The LRRK2-G2385R variant showed slower progression in tremor symptoms and excessive daytime sleepiness compared with IPD. In contrast, symptoms associated with LRRK2-R1628P and LRRK2-A419V were more similar to those of IPD. Survival analysis revealed that LRRK2-PD does not affect life expectancy compared with IPD.</p><p><strong>Interpretation: </strong>Our extended longitudinal follow-up of LRRK2-PD in the Chinese population provided valuable insights, further confirming the clinical characteristics of the three LRRK2 variants.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prolonged venous transit is associated with worse neurological recovery in successfully reperfused large vessel strokes. 在成功再灌注的大血管脑卒中患者中,静脉过境时间延长与神经功能恢复较差有关。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-11-11 DOI: 10.1002/acn3.52243
Janet Mei, Hamza Adel Salim, Dhairya A Lakhani, Licia Luna, Aneri Balar, Mona Shahriari, Nathan Z Hyson, Francis Deng, Adam A Dmytriw, Adrien Guenego, Vaibhav Vagal, Victor C Urrutia, Elisabeth B Marsh, Hanzhang Lu, Risheng Xu, Rich Leigh, Dylan Wolman, Gaurang Shah, Benjamin Pulli, Kambiz Nael, Gregory W Albers, Max Wintermark, Jeremy J Heit, Tobias D Faizy, Argye E Hillis, Raf Llinas, Vivek Yedavalli
{"title":"Prolonged venous transit is associated with worse neurological recovery in successfully reperfused large vessel strokes.","authors":"Janet Mei, Hamza Adel Salim, Dhairya A Lakhani, Licia Luna, Aneri Balar, Mona Shahriari, Nathan Z Hyson, Francis Deng, Adam A Dmytriw, Adrien Guenego, Vaibhav Vagal, Victor C Urrutia, Elisabeth B Marsh, Hanzhang Lu, Risheng Xu, Rich Leigh, Dylan Wolman, Gaurang Shah, Benjamin Pulli, Kambiz Nael, Gregory W Albers, Max Wintermark, Jeremy J Heit, Tobias D Faizy, Argye E Hillis, Raf Llinas, Vivek Yedavalli","doi":"10.1002/acn3.52243","DOIUrl":"https://doi.org/10.1002/acn3.52243","url":null,"abstract":"<p><strong>Objective: </strong>Venous outflow (VO) impairment predicts unfavorable outcomes in patients with acute ischemic stroke caused by large vessel occlusion (AIS-LVO). Prolonged venous transit (PVT), a visual qualitative VO marker on CT perfusion (CTP) time to maximum (Tmax) maps, has been associated with unfavorable 90-day functional outcomes despite successful reperfusion. This study investigates the association between PVT and percent change on the National Institutes of Health Stroke Scale (NIHSS) among AIS-LVO patients who have undergone successful reperfusion.</p><p><strong>Methods: </strong>We performed a retrospective analysis of prospectively collected data from consecutive adult AIS-LVO patients with successful reperfusion (modified Thrombolysis in Cerebral Infarction 2b/2c/3). PVT+ was defined as Tmax ≥10 s in the superior sagittal sinus, torcula, or both. The primary outcome was continuous NIHSS percent change and dichotomous NIHSS percent change ≥70%. Regression analyses were performed to assess the effect of PVT on NIHSS percent change.</p><p><strong>Results: </strong>In 119 patients of median (IQR) age 71 (63-81) years, the admission and discharge NIHSS scores were significantly higher in PVT+ patients compared to PVT- patients (17 [14-23.5] vs. 13 [9.5-19], p = 0.011, and 7.5 [4-12] vs. 3 [1-7], p < 0.001, respectively). After adjusting for age, sex, hypertension, diabetes, atrial fibrillation, administration of intravenous thrombolysis (IVT), Alberta Stroke Program Early CT Scores (ASPECTS), mTICI 2c and/or 3, Tmax >6 s volume, and hemorrhagic transformation, PVT+ was significantly associated with lower NIHSS percent change (B = -0.163, 95%CI -0.326 to -0.001, p = 0.049) and was less likely to achieve higher than 70% NIHSS improvement (OR = 0.331, 95% CI 0.127-0.863, p = 0.024).</p><p><strong>Interpretation: </strong>PVT+ was significantly associated with reduced neurological improvement despite successful reperfusion in AIS-LVO patients, highlighting the critical role of VO impairment in short-term functional outcomes. These findings further validate PVT as a valuable adjunct imaging biomarker derived from CTP for assessing VO profiles in AIS-LVO.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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