JAMA neurology最新文献

{"title":"Digital Biomarkers for Neurodegenerative Disease.","authors":"Claire M Erickson, Anna Wexler, Emily A Largent","doi":"10.1001/jamaneurol.2024.3533","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.3533","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of Inflammatory Central Nervous System Diseases After Tumor Necrosis Factor–Inhibitor Treatment for Autoimmune Diseases","authors":"Wenhui Xie, Yunchuang Sun, Wei Zhang, Nanbo Zhu, Shiyu Xiao","doi":"10.1001/jamaneurol.2024.3524","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.3524","url":null,"abstract":"ImportanceTumor necrosis factor (TNF) inhibitors have been used extensively to treat various autoimmune diseases. However, there are ongoing debates about the risk of inflammatory central nervous system (CNS) disease events following TNF inhibitor therapy, as well as uncertainty about how this risk varies across different autoimmune diseases or TNF-blocking agents.ObjectiveTo evaluate the risk of inflammatory CNS diseases after anti-TNF initiation and assess the difference in risk among different types of underlying autoimmune diseases or TNF inhibitors.Data SourcesSeparate searches were conducted across PubMed, Embase, and the Cochrane Library from inception until March 1, 2024.Study SelectionObservational studies assessing the association between anti-TNF therapy and inflammatory CNS diseases relative to a comparator group.Data Extraction and SynthesisStudy eligibility assessment and data extraction were independently conducted by 2 investigators following PRISMA guidelines. The risk ratio (RR) was used as the effect measure of the pooled analysis.Main Outcomes and MeasuresThe primary outcome was the risk of incident inflammatory CNS events after anti-TNF therapy for autoimmune diseases. Secondary analyses were performed based on different types of underlying autoimmune diseases and TNF inhibitors.ResultsEighteen studies involving 1 118 428 patients with autoimmune diseases contributing more than 5 698 532 person-years of follow-up were analyzed. The incidence rates of new-onset inflammatory CNS events after initiating TNF inhibitors ranged from 2.0 to 13.4 per 10 000 person-years. Overall, exposure to TNF inhibitors was associated with a 36% increased risk of any inflammatory CNS disease compared to conventional therapies (RR, 1.36; 95% CI, 1.01-1.84; <jats:italic>I</jats:italic><jats:sup>2</jats:sup>, 49%), mainly attributed to demyelinating diseases (RR, 1.38; 95% CI, 1.04-1.81; <jats:italic>I</jats:italic><jats:sup>2</jats:sup>, 31%). Secondary analyses revealed a similar risk of inflammatory CNS diseases across different types of underlying autoimmune diseases (rheumatic diseases: RR, 1.36; 95% CI, 0.84-2.21; inflammatory bowel disease 1.49; 95% CI, 0.93-2.40; <jats:italic>P</jats:italic> for subgroup = .74) and TNF inhibitors (anti-TNF monoclonal antibodies vs etanercept: RR, 1.04; 95% CI, 0.93-1.15; <jats:italic>I</jats:italic><jats:sup>2</jats:sup>, 0%).Conclusions and RelevanceCompared to conventional therapies, exposure to TNF inhibitors was associated with a 36% increased risk of inflammatory CNS diseases, irrespective of background autoimmune disease or TNF inhibitor type.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"75 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome Sequencing After Exome Sequencing in Pediatric Epilepsy","authors":"Alissa M. D’Gama, Wanqing Shao, Lacey Smith, Hyun Yong Koh, Maya Davis, Julia Koh, Brandon T. Oby, Cesar I. Urzua, Beth Rosen Sheidley, Shira Rockowitz, Annapurna Poduri","doi":"10.1001/jamaneurol.2024.3582","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.3582","url":null,"abstract":"This cohort study examined the yield and use of genome sequencing after nondiagnostic exome sequencing for pediatric patients with unexplained epilepsy between August 2018 and May 2023.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"1 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142452135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multisite Skin Biopsies vs Cerebrospinal Fluid for Prion Seeding Activity in the Diagnosis of Prion Diseases","authors":"Zhong-yun Chen, Qi Shi, Kang Xiao, Yu Kong, Dong-lin Liang, Yi-hao Wang, Rong Min, Jing Zhang, Zhen Wang, Hong Ye, Ran Gao, Min Chu, Hai-tian Nan, De-ming Jiang, Jun-jie Li, Lin Wang, Wen-Quan Zou, Li-yong Wu, Xiao-ping Dong","doi":"10.1001/jamaneurol.2024.3458","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.3458","url":null,"abstract":"ImportanceRecent studies have revealed that autopsy skin samples from cadavers with prion diseases (PRDs) exhibited a positive prion seeding activity similar to cerebrospinal fluid (CSF). It is worthwhile to validate the findings with a large number of biopsy skin samples and compare the clinical value of prion seeding activity between skin biopsies and concurrent CSF specimens.ObjectiveTo compare the prion seeding activity of skin biopsies and CSF samples and to determine the effectiveness of combination of the skin biopsies from multiple sites and numerous dilutions on the diagnosis for various types of PRDs.Design, Setting, and ParticipantsIn the exploratory cohort, patients were enrolled from September 15, 2021, to December 15, 2023, and were followed up every 3 months until April 2024. The confirmatory cohort enrolled patients from December 16, 2023, to June 31, 2024. The exploratory cohort was conducted at a single center, the neurology department at Xuanwu Hospital. The confirmatory cohort was a multicenter study involving 4 hospitals in China. Participants included those diagnosed with probable sporadic Creutzfeldt-Jakob disease or genetically confirmed PRDs. Patients with uncertain diagnoses or those lost to follow-up were excluded. All patients with PRDs underwent skin sampling at 3 sites (the near-ear area, upper arm, lower back, and inner thigh), and a portion of them had CSF samples taken simultaneously. In the confirmatory cohort, a single skin biopsy site and CSF samples were simultaneously collected from a portion of patients with PRDs.ExposuresThe skin and CSF prion seeding activity was assessed using the real-time quaking-induced conversion (RT-QUIC) assay, with rHaPrP90-231, a Syrian hamster recombinant prion protein, as the substrate. In the exploratory cohort, skin samples were tested at dilutions of 10&lt;jats:sup&gt;−2&lt;/jats:sup&gt; through 10&lt;jats:sup&gt;−4&lt;/jats:sup&gt;. In the confirmatory cohort, skin samples were tested at a dilution of 10&lt;jats:sup&gt;−2&lt;/jats:sup&gt;. A total of four 15-μL wells of CSF were used in the RT-QUIC assay.Main Outcomes and MeasuresCorrelations between RT-QUIC results from the skin and CSF and the final diagnosis of enrolled patients.ResultsIn the exploratory cohort, the study included 101 patients (mean [SD] age, 60.9 [10.2] years; 63 female [62.4%]) with PRD and 23 patients (mean [SD] age, 63.4 [9.1] years; 13 female [56.5%]) without PRD. A total of 94 patients had CSF samples taken simultaneously with the skin biopsy samples. In the confirmatory cohort, a single skin biopsy site and CSF sample were taken simultaneously in 43 patients with PRDs. Using an experimental condition of 10&lt;jats:sup&gt;−2&lt;/jats:sup&gt; dilution, the RT-QUIC positive rates of skin samples from different sites were comparable with those of the CSF (skin: 18 of 26 [69.2%] to 74 of 93 [79.6%] vs CSF: 71 of 94 [75.5%]). When tested at 3 different dilutions, all skin sample positivity rates increased to over 80.0% (79 of 93 for the near-ear area,","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"55 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142431577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Directly Isolated Allogeneic Virus-Specific T Cells in Progressive Multifocal Leukoencephalopathy.","authors":"Nora Möhn, Lea Grote-Levi, Mike P Wattjes, Agnes Bonifacius, Dennis Holzwart, Franziska Hopfner, Sandra Nay, Sabine Tischer-Zimmermann, Mieke Luise Saßmann, Philipp Schwenkenbecher, Kurt-Wolfram Sühs, Nima Mahmoudi, Clemens Warnke, Julian Zimmermann, David Hagin, Lilia Goudeva, Rainer Blasczyk, Armin Koch, Britta Maecker-Kolhoff, Britta Eiz-Vesper, Günter Höglinger, Thomas Skripuletz","doi":"10.1001/jamaneurol.2024.3324","DOIUrl":"10.1001/jamaneurol.2024.3324","url":null,"abstract":"<p><strong>Importance: </strong>Progressive multifocal leukoencephalopathy (PML) is a life-threatening viral infection with no approved antiviral treatment.</p><p><strong>Objective: </strong>To determine whether restoring the compromised immune system of patients with PML with directly isolated allogeneic virus-specific (DIAVIS) T cells is a promising therapeutic strategy, especially if other curative options are absent.</p><p><strong>Design, setting, and participants: </strong>A retrospective case series of patients with PML who were treated with DIAVIS T cells was conducted between March 2020 and February 2022. T cells were isolated from healthy donors within 24 hours and targeted against the BK polyomavirus. Patients with PML were treated monocentrically. Eligibility for treatment with DIAVIS T cells was assessed for patients with confirmed PML, and exclusion criteria included stable PML disease and previous treatment with natalizumab.</p><p><strong>Exposure: </strong>Fresh DIAVIS T cells were administered with a maximum dose of 2 × 104 CD3+ cells/kg body weight. Remaining T cells were cryopreserved in divided doses and administered in additional treatments approximately 2 and 6 weeks later.</p><p><strong>Main outcomes and measures: </strong>Primary outcome measures were clinical response and survival of patients, compared with the outcomes of a historical reference group of PML cases receiving best supportive treatment (BST) and with recently published real-world data of patients with PML who were treated with immune checkpoint inhibition.</p><p><strong>Results: </strong>The study cohort consisted of 28 patients (median [IQR] age, 60 [51-72] years; 20 male [71.4%]). Twenty-two patients (79%) treated with DIAVIS T cells showed response, resulting in significant clinical stabilization or improvement and a reduction in viral load. Six individuals (21%) were classified as nonresponders, deteriorated rapidly, and died, as did 2 other patients during a 12-month follow-up. Older age was the only predictor of a poor treatment response. Survival analysis revealed better 12-month survival rates (hazard ratio, 0.42; 95% CI, 0.24-0.73; P =.02) from diagnosis for patients treated with DIAVIS T cells (18 of 26 [69%]; 12-mo survival rate, 69%) compared with historical controls with BST (57 of 113 [50%]; 12-mo survival rate, including censored data, 45%).</p><p><strong>Conclusion and relevance: </strong>This case series of DIAVIS T-cell therapy in PML provides first class IV evidence suggesting efficacy to reduce mortality and improve functional outcome. Further prospective studies are required to confirm these results.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Steroid-Responsive Myorhythmia in Pectoralis Muscles.","authors":"Bing Zhao, Cuiping Zhao, Yuying Zhao","doi":"10.1001/jamaneurol.2024.2008","DOIUrl":"10.1001/jamaneurol.2024.2008","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1094-1095"},"PeriodicalIF":20.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141467954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How Is the X Chromosome Involved in Alzheimer Disease?","authors":"Rachel F Buckley, Mabel Seto","doi":"10.1001/jamaneurol.2024.2831","DOIUrl":"10.1001/jamaneurol.2024.2831","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1028-1029"},"PeriodicalIF":20.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"It Is Time for Medicare to Cover Driving Safety Assessments.","authors":"Kirk R Daffner, Margaret O'Connor","doi":"10.1001/jamaneurol.2024.2461","DOIUrl":"10.1001/jamaneurol.2024.2461","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1021-1022"},"PeriodicalIF":20.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Localized Nicardipine Release Implants for Prevention of Vasospasm After Aneurysmal Subarachnoid Hemorrhage: A Randomized Clinical Trial.","authors":"Lars Wessels, Stefan Wolf, Tiziana Adage, Jörg Breitenbach, Claudius Thomé, Johannes Kerschbaumer, Martin Bendszus, Matthias Gmeiner, Andreas Gruber, Dorothee Mielke, Veit Rohde, Maria Wostrack, Bernard Meyer, Jens Gempt, Gerhard Bavinzski, Dorian Hirschmann, Peter Vajkoczy, Nils Hecht","doi":"10.1001/jamaneurol.2024.2564","DOIUrl":"10.1001/jamaneurol.2024.2564","url":null,"abstract":"<p><strong>Importance: </strong>Cerebral vasospasm largely contributes to a devastating outcome after aneurysmal subarachnoid hemorrhage (aSAH), with limited therapeutic options.</p><p><strong>Objective: </strong>To investigate the safety and efficacy of localized nicardipine release implants positioned around the basal cerebral vasculature at risk for developing proximal vasospasm after aSAH.</p><p><strong>Design, setting, and participants: </strong>This single-masked randomized clinical trial with a 52-week follow-up was performed between April 5, 2020, and January 23, 2023, at 6 academic neurovascular centers in Germany and Austria. Consecutive patients with World Federation of Neurological Surgeons grade 3 or 4 aSAH due to a ruptured anterior circulation aneurysm requiring microsurgical aneurysm repair participated.</p><p><strong>Intervention: </strong>During aneurysm repair, patients were randomized 1:1 to intraoperatively receive 10 implants at 4 mg of nicardipine each plus standard of care (implant group) or aneurysm repair alone plus standard of care (control group).</p><p><strong>Main outcome and measures: </strong>The primary end point was the incidence of moderate to severe cerebral angiographic vasospasm (aVS) between days 7 and 9 after aneurysm rupture as determined by digital subtraction angiography.</p><p><strong>Results: </strong>Of 41 patients, 20 were randomized to the control group (mean [SD] age, 54.9 [9.1] years; 17 female [85%]) and 21 to the implant group (mean [SD] age, 53.6 [11.9] years; 14 female [67%]). A total of 39 patients were included in the primary efficacy analysis. In the control group, 11 of 19 patients (58%) developed moderate or severe aVS compared with 4 of 20 patients (20%) in the implant group (P = .02). This outcome was paralleled by a lower clinical need for vasospasm rescue therapy in the implant group (2 of 20 patients [10%]) compared with the control group (11 of 19 patients [58%]; P = .002). Between days 13 and 15 after aneurysm rupture, new cerebral infarcts were noted in 6 of 19 patients (32%) in the control group and in 2 of 20 patients (10%) in the implant group (P = .13). At 52 weeks, favorable outcomes were noted in 12 of 18 patients (67%) in the control group and 16 of 19 patients (84%) in the implant group (P = .27). The adverse event rate did not differ between groups.</p><p><strong>Conclusions and relevance: </strong>These findings show that placing nicardipine release implants during microsurgical aneurysm repair can provide safe and effective prevention of moderate to severe aVS after aSAH. A phase 3 clinical trial to investigate the effect of nicardipine implants on clinical outcome may be warranted.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov Identifier: NCT04269408.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1060-1065"},"PeriodicalIF":20.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex Differences in Case-Fatality Rates of Stroke-Reply.","authors":"Daniela Renedo, Kevin N Sheth","doi":"10.1001/jamaneurol.2024.2599","DOIUrl":"10.1001/jamaneurol.2024.2599","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1103"},"PeriodicalIF":20.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}