Pub Date : 2024-01-01Epub Date: 2023-11-21DOI: 10.1159/000535327
Matheus Pedro
Background: Neurology and literature have a complex interface; one of the facets is that of works inspired by grief on the passing of a beloved one due to a neurological disease.
Summary: In Memoriam A.H.H., written by Alfred Tennyson and published in 1850 in response to the untimely death of Arthur Henry Hallam, is one such elegy, which had a profound impact in Tennyson's body of work and on the history of Victorian poetry in general. In this review, the author delineates biographical notes of both men before analyzing the disease and death of Arthur Hallam due to hemorrhagic stroke.
Key messages: By evaluating Hallam's autopsy report and contemplating the different hypotheses on the etiology of his stroke, as well as how his death due to catastrophic neurological disease was memorialized in verse, neurologists may gain better insight on the interface between neurology and literature inspired by grief.
背景:摘要:《悼念A.H.H.》(In Memoriam A.H.H.)由阿尔弗雷德-丁尼生(Alfred Tennyson)撰写,发表于1850年,以回应亚瑟-亨利-哈勒姆(Arthur Henry Hallam)的早逝,就是这样一首挽歌,对丁尼生的作品乃至整个维多利亚诗歌史产生了深远影响。在这篇评论中,作者在分析阿瑟-哈勒姆因出血性中风而导致的疾病和死亡之前,详细介绍了两人的生平简介:通过评估哈兰的尸检报告,思考关于其中风病因的不同假设,以及如何用诗歌纪念他因灾难性神经疾病而死,神经病学家可以更好地洞察神经病学与因悲伤而激发的文学之间的关系。
{"title":"Hemorrhagic Stroke as Inspiration for Poetry: The Case of Alfred Tennyson, Arthur Henry Hallam, and In Memoriam A.H.H.","authors":"Matheus Pedro","doi":"10.1159/000535327","DOIUrl":"https://doi.org/10.1159/000535327","url":null,"abstract":"<p><strong>Background: </strong>Neurology and literature have a complex interface; one of the facets is that of works inspired by grief on the passing of a beloved one due to a neurological disease.</p><p><strong>Summary: </strong>In Memoriam A.H.H., written by Alfred Tennyson and published in 1850 in response to the untimely death of Arthur Henry Hallam, is one such elegy, which had a profound impact in Tennyson's body of work and on the history of Victorian poetry in general. In this review, the author delineates biographical notes of both men before analyzing the disease and death of Arthur Hallam due to hemorrhagic stroke.</p><p><strong>Key messages: </strong>By evaluating Hallam's autopsy report and contemplating the different hypotheses on the etiology of his stroke, as well as how his death due to catastrophic neurological disease was memorialized in verse, neurologists may gain better insight on the interface between neurology and literature inspired by grief.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"87 1","pages":"43-48"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-02-21DOI: 10.1159/000537930
Miguel Serôdio, Marta Magriço, André Sobral-Pinho, Rita Ventura, Filipa Serrazina, Gonçalo Cabral, Bruna Meira, Marco Fernandes, Manuel Salavisa, Marlene Saraiva, João Pedro Marto, Francisca Sá, Sofia Calado, Miguel Viana-Baptista
Introduction: Cardiology and cardiothoracic surgery are among the specialties that most commonly require neurology inpatient consultations. We aimed to study the neurology referrals by the cardiovascular-specialized hospital included in our tertiary hospital center.
Methods: Retrospective study of consecutive patients referred for neurology inpatient consultation between January 1, 2020, and December 31, 2022. We analyzed referrals, patients' characteristics, and the approach taken. A detailed subanalysis was performed for patients diagnosed with acute ischemic stroke (AIS).
Results: 143 patients were observed (mean age 67.3 years, 46 [32.2%] females). Most frequent referral reasons were suspected AIS deficits (39.2%), altered mental status (19.6%), suspected seizures (13.3%), and neuroprognostication (11.9%). Mean referral-to-consult time was 2.7 days, and 117 (81.8%) consults were in-person. Additional investigation, treatment changes, and outpatient clinic referral were proposed, respectively, in 79.7%, 60.1%, and 19.6% of patients. Most common diagnoses were AIS (45.5%), hypoxic-ischemic encephalopathy (18.9%), and delirium (7.0%). Regarding patients with AIS (n = 62), most common stroke causes were post-cardiac procedure (44.6%), infective endocarditis (18.5%), aortic dissection (10.8%), acute myocardial infarction (10.8%), and anticoagulant withdrawal in patients with atrial fibrillation (6.2%). Thirty-four AIS patients were diagnosed less than 24 h since last seen well, of which four (6.2%) were treated (three with thrombolysis and one with mechanical thrombectomy).
Conclusion: AIS is the most common reason for referral in our cardiovascular hospital. Our results highlight the importance of the availability of a neurologist/neurohospitalist with stroke expertise for consultation of inpatients admitted in a specialized cardiovascular hospital.
{"title":"The Role of Neurohospitalism in a Specialized Cardiovascular Hospital.","authors":"Miguel Serôdio, Marta Magriço, André Sobral-Pinho, Rita Ventura, Filipa Serrazina, Gonçalo Cabral, Bruna Meira, Marco Fernandes, Manuel Salavisa, Marlene Saraiva, João Pedro Marto, Francisca Sá, Sofia Calado, Miguel Viana-Baptista","doi":"10.1159/000537930","DOIUrl":"10.1159/000537930","url":null,"abstract":"<p><strong>Introduction: </strong>Cardiology and cardiothoracic surgery are among the specialties that most commonly require neurology inpatient consultations. We aimed to study the neurology referrals by the cardiovascular-specialized hospital included in our tertiary hospital center.</p><p><strong>Methods: </strong>Retrospective study of consecutive patients referred for neurology inpatient consultation between January 1, 2020, and December 31, 2022. We analyzed referrals, patients' characteristics, and the approach taken. A detailed subanalysis was performed for patients diagnosed with acute ischemic stroke (AIS).</p><p><strong>Results: </strong>143 patients were observed (mean age 67.3 years, 46 [32.2%] females). Most frequent referral reasons were suspected AIS deficits (39.2%), altered mental status (19.6%), suspected seizures (13.3%), and neuroprognostication (11.9%). Mean referral-to-consult time was 2.7 days, and 117 (81.8%) consults were in-person. Additional investigation, treatment changes, and outpatient clinic referral were proposed, respectively, in 79.7%, 60.1%, and 19.6% of patients. Most common diagnoses were AIS (45.5%), hypoxic-ischemic encephalopathy (18.9%), and delirium (7.0%). Regarding patients with AIS (n = 62), most common stroke causes were post-cardiac procedure (44.6%), infective endocarditis (18.5%), aortic dissection (10.8%), acute myocardial infarction (10.8%), and anticoagulant withdrawal in patients with atrial fibrillation (6.2%). Thirty-four AIS patients were diagnosed less than 24 h since last seen well, of which four (6.2%) were treated (three with thrombolysis and one with mechanical thrombectomy).</p><p><strong>Conclusion: </strong>AIS is the most common reason for referral in our cardiovascular hospital. Our results highlight the importance of the availability of a neurologist/neurohospitalist with stroke expertise for consultation of inpatients admitted in a specialized cardiovascular hospital.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"49-53"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139930705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Combined central and peripheral demyelination (CCPD) is a rare disease characterized by demyelinating lesions in both the central nervous system (CNS) and peripheral nervous system (PNS). CCPD can present with acute, subacute, or chronic onset. The initial symptom may be of CNS origin, PNS origin, or both. The clinical manifestations of CCPD are quite heterogeneous, and there are no well-defined diagnostic criteria. In MRI imaging of CCPD cases, demyelinating lesions can be seen in areas such as the brain, cerebellum, brainstem, optic nerve, and spinal cord. Common electromyography (EMG) findings in patients with CCPD include decreased motor nerve conduction velocities, decreased or absent sensory nerve action potentials, prolonged F-wave latency, and decreased amplitude of compound muscle action potentials. Neurofascin (NF) is a transmembrane protein and anti-neurofascin (anti-NF) antibodies directed against NF can be positive in cases of CCPD. Four main NF polypeptides are produced by alternative splicing: NF 186, NF 180, NF 166, and NF 155. The investigation of anti-NF in CCPD cases is therefore important for etiological considerations. Here, we discussed three cases diagnosed with CCPD based on clinical, neuroimaging, EMG, and anti-NF antibody results in light of the literature.
{"title":"Combined Central and Peripheral Demyelination: Two Case Reports.","authors":"Buse Gül Belen, Nazlı Gamze Bülbül, Sibel Karsidag, Ercan Köse, Atay Vural, Fatih Özdağ","doi":"10.1159/000536167","DOIUrl":"10.1159/000536167","url":null,"abstract":"<p><p>Combined central and peripheral demyelination (CCPD) is a rare disease characterized by demyelinating lesions in both the central nervous system (CNS) and peripheral nervous system (PNS). CCPD can present with acute, subacute, or chronic onset. The initial symptom may be of CNS origin, PNS origin, or both. The clinical manifestations of CCPD are quite heterogeneous, and there are no well-defined diagnostic criteria. In MRI imaging of CCPD cases, demyelinating lesions can be seen in areas such as the brain, cerebellum, brainstem, optic nerve, and spinal cord. Common electromyography (EMG) findings in patients with CCPD include decreased motor nerve conduction velocities, decreased or absent sensory nerve action potentials, prolonged F-wave latency, and decreased amplitude of compound muscle action potentials. Neurofascin (NF) is a transmembrane protein and anti-neurofascin (anti-NF) antibodies directed against NF can be positive in cases of CCPD. Four main NF polypeptides are produced by alternative splicing: NF 186, NF 180, NF 166, and NF 155. The investigation of anti-NF in CCPD cases is therefore important for etiological considerations. Here, we discussed three cases diagnosed with CCPD based on clinical, neuroimaging, EMG, and anti-NF antibody results in light of the literature.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"84-92"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-01Epub Date: 2024-08-29DOI: 10.1159/000541172
Juyeon Oh, Eun Joo Chung, Jin Ho Jung, Jin San Lee, Seong-Il Oh
Introduction: Long COVID can also lead to neurological sequelae that affect existing diseases. This study explored how COVID-19 infection affects neurological patients and the relationship between long COVID and exacerbating factors.
Methods: This retrospective study was conducted on 85 patients with neurological diseases after COVID-19 at the Neurology Department, Inje University Busan Paik Hospital, Korea. The data were collected between August and October 2022. The patients had a medical history, including COVID-19 infection, and completed symptom questionnaires. A long COVID questionnaire consisting of 35 inquiries in 10 categories was completed. Anxiety, depression, fatigue, functional difficulties, QOL, and health status changes were assessed.
Results: The analysis comprised 85 participants (age: 56.4 ± 15.2 years; 63.5% women). Of the categories, neurological symptoms (68.2%) were the most prevalent, followed by systemic symptoms (64.7%) and cardiopulmonary symptoms (56.5%). Anxiety, depression, and fatigue symptoms were reported by 36.5%, 34.1%, and 42.4% of the participants. Subjective neurological deterioration after COVID-19 was reported in 28 participants (28/81, 34.6%). Anxiety, depression, and fatigue were influenced by long COVID symptoms and the subjective deterioration of neurological conditions.
Conclusion: This study analyzed the long COVID symptoms in patients with preexisting neurological conditions and their impact on mental health and quality of life. One-third of the participants reported a subjective worsening of their preexisting neurological conditions. This study highlights the need for comprehensive follow-ups and a multidisciplinary approach for patients with neurological conditions and prolonged COVID-19 symptoms.
{"title":"Characteristics and Impact of Long COVID at a Neurology Clinic.","authors":"Juyeon Oh, Eun Joo Chung, Jin Ho Jung, Jin San Lee, Seong-Il Oh","doi":"10.1159/000541172","DOIUrl":"10.1159/000541172","url":null,"abstract":"<p><strong>Introduction: </strong>Long COVID can also lead to neurological sequelae that affect existing diseases. This study explored how COVID-19 infection affects neurological patients and the relationship between long COVID and exacerbating factors.</p><p><strong>Methods: </strong>This retrospective study was conducted on 85 patients with neurological diseases after COVID-19 at the Neurology Department, Inje University Busan Paik Hospital, Korea. The data were collected between August and October 2022. The patients had a medical history, including COVID-19 infection, and completed symptom questionnaires. A long COVID questionnaire consisting of 35 inquiries in 10 categories was completed. Anxiety, depression, fatigue, functional difficulties, QOL, and health status changes were assessed.</p><p><strong>Results: </strong>The analysis comprised 85 participants (age: 56.4 ± 15.2 years; 63.5% women). Of the categories, neurological symptoms (68.2%) were the most prevalent, followed by systemic symptoms (64.7%) and cardiopulmonary symptoms (56.5%). Anxiety, depression, and fatigue symptoms were reported by 36.5%, 34.1%, and 42.4% of the participants. Subjective neurological deterioration after COVID-19 was reported in 28 participants (28/81, 34.6%). Anxiety, depression, and fatigue were influenced by long COVID symptoms and the subjective deterioration of neurological conditions.</p><p><strong>Conclusion: </strong>This study analyzed the long COVID symptoms in patients with preexisting neurological conditions and their impact on mental health and quality of life. One-third of the participants reported a subjective worsening of their preexisting neurological conditions. This study highlights the need for comprehensive follow-ups and a multidisciplinary approach for patients with neurological conditions and prolonged COVID-19 symptoms.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"230-241"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Yan, Z. Cui, Nantong, X. Yang, Z. Wang, S. Kumar, J. K. Raina, A. J. Jammu Sudershan, K. Mahajan, R. Jasrotia, C. Maharana, R. K. Panjalia, P. Kumar, S. Xu, W. Li, Q. Di, P. Muñoz-Vendrell, A. Bau, L. Matas, E. Romero-Pinel, Hospitalet de Llobregat, A. Martínez-Yélamos, Barcelona, N. Edelstyn, E. Martini, L. Wang, Y. Xiong, Beijing, D. N. Zohar, Ramat-Gan, T. Aviv, L. L. Ventura, O. Bugiani
{"title":"Contents 2023, Vol. 86","authors":"L. Yan, Z. Cui, Nantong, X. Yang, Z. Wang, S. Kumar, J. K. Raina, A. J. Jammu Sudershan, K. Mahajan, R. Jasrotia, C. Maharana, R. K. Panjalia, P. Kumar, S. Xu, W. Li, Q. Di, P. Muñoz-Vendrell, A. Bau, L. Matas, E. Romero-Pinel, Hospitalet de Llobregat, A. Martínez-Yélamos, Barcelona, N. Edelstyn, E. Martini, L. Wang, Y. Xiong, Beijing, D. N. Zohar, Ramat-Gan, T. Aviv, L. L. Ventura, O. Bugiani","doi":"10.1159/000535576","DOIUrl":"https://doi.org/10.1159/000535576","url":null,"abstract":"","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"650 2","pages":"I - VI"},"PeriodicalIF":2.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139020753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Path of Discovery and Opioid-associated Amnestic Syndrome in \"The Memory Thief\". Book Review.","authors":"Mason Bennett","doi":"10.1159/000529634","DOIUrl":"https://doi.org/10.1159/000529634","url":null,"abstract":"<p><p>N/A.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10685287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alireza Emadi, Sara Halakoo, Cyrus Taghizadeh Delkhoush, F. Ehsani
Introduction: Multiple sclerosis (MS) is a common neurological disorder in societies. The most common symptoms in patients with MS are gait disorders and spasticity. Pharmacological therapies have mild therapeutic influence with more side effects for management of these symptoms. There is evidence that neuro-rehabilitation techniques have more appropriate effects rather than pharmacological therapies. In this regard, some studies indicated the beneficial effects of brain stimulation techniques on gait improvement and decreasing spasticity in patients with MS, while the others have not shown any efficacy. Accordingly, conducting a meta-analysis study in this issue is very important. Methods: A systematic search was performed in PubMed, Scopus, and ISI Web of Science from database inception on December 6, 2020, to find interventional studies assessing the effects of neuromodulators (transcranial direct-current stimulation [tDCS] or transcranial magnetic stimulation [TMS]) on spasticity, balance, and gait in patients with MS. The included studies were qualitatively assessed by the Physiotherapy Evidence Database (PEDro) scale. Finally, the homogeneity studies were analyzed by Stata software. Study-specific results were pooled by using a random-effects model. Results: A total of seven studies were included in the analysis. In the pooled analysis of studies, a significant effect of the TMS technique on spasticity was observed in patients with MS: −0.80 (95% CI: −1.31, −0.29). In addition, no significant effect of the single-session tDCS technique on gait speed was observed in patients with MS: 0.11 (95% CI: −0.11, 0.32). Conclusions: One of the main causes of discrepancy in the findings of included studies is the number of sessions for using neuromodulator techniques. A single session of anodal tDCS is not enough to improve gait in patients with MS. In addition, meta-analysis shows that multi-session TMS is effective intervention for decreasing spasticity in patients with MS.
引言:多发性硬化症是社会中常见的神经系统疾病。MS患者最常见的症状是步态障碍和痉挛。药物治疗对这些症状的治疗影响较小,副作用较多。有证据表明,神经康复技术比药物疗法具有更合适的效果。在这方面,一些研究表明,脑刺激技术对多发性硬化症患者步态改善和减少痉挛有有益影响,而其他研究则没有显示出任何疗效。因此,在这个问题上进行荟萃分析研究是非常重要的。方法:自2020年12月6日数据库建立以来,在PubMed、Scopus和ISI Web of Science上进行了系统搜索,以寻找评估神经调节剂(经颅直流电刺激[tDCS]或经颅磁刺激[TMS])对MS患者痉挛、平衡和步态影响的介入研究。纳入的研究通过物理治疗证据数据库(PEDro)量表进行了定性评估。最后,利用Stata软件对同质性研究进行了分析。通过使用随机效应模型汇总研究的具体结果。结果:共有7项研究被纳入分析。在研究的汇总分析中,在MS患者中观察到TMS技术对痉挛的显著影响:-0.80(95%CI:−1.31,−0.29)。此外,在MS患者中,未观察到单次tDCS技术对步态速度的显著影响:0.11(95%CI:-0.11,0.32)。结论:纳入研究结果不一致的主要原因之一是使用神经调节器技术的次数。单次阳极tDCS不足以改善MS患者的步态。此外,荟萃分析表明,多次TMS是减少MS患者痉挛的有效干预措施。
{"title":"The Effects of Neuromodulators on Spasticity, Balance, and Gait in Patients with MS: A Systematic Review and Meta-Analysis Study","authors":"Alireza Emadi, Sara Halakoo, Cyrus Taghizadeh Delkhoush, F. Ehsani","doi":"10.1159/000528100","DOIUrl":"https://doi.org/10.1159/000528100","url":null,"abstract":"Introduction: Multiple sclerosis (MS) is a common neurological disorder in societies. The most common symptoms in patients with MS are gait disorders and spasticity. Pharmacological therapies have mild therapeutic influence with more side effects for management of these symptoms. There is evidence that neuro-rehabilitation techniques have more appropriate effects rather than pharmacological therapies. In this regard, some studies indicated the beneficial effects of brain stimulation techniques on gait improvement and decreasing spasticity in patients with MS, while the others have not shown any efficacy. Accordingly, conducting a meta-analysis study in this issue is very important. Methods: A systematic search was performed in PubMed, Scopus, and ISI Web of Science from database inception on December 6, 2020, to find interventional studies assessing the effects of neuromodulators (transcranial direct-current stimulation [tDCS] or transcranial magnetic stimulation [TMS]) on spasticity, balance, and gait in patients with MS. The included studies were qualitatively assessed by the Physiotherapy Evidence Database (PEDro) scale. Finally, the homogeneity studies were analyzed by Stata software. Study-specific results were pooled by using a random-effects model. Results: A total of seven studies were included in the analysis. In the pooled analysis of studies, a significant effect of the TMS technique on spasticity was observed in patients with MS: −0.80 (95% CI: −1.31, −0.29). In addition, no significant effect of the single-session tDCS technique on gait speed was observed in patients with MS: 0.11 (95% CI: −0.11, 0.32). Conclusions: One of the main causes of discrepancy in the findings of included studies is the number of sessions for using neuromodulator techniques. A single session of anodal tDCS is not enough to improve gait in patients with MS. In addition, meta-analysis shows that multi-session TMS is effective intervention for decreasing spasticity in patients with MS.","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"216 ","pages":"144 - 154"},"PeriodicalIF":2.4,"publicationDate":"2023-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41273622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ming Zhong, Jianbo Zhang, Zhenjun Li, Ziying Liu, Haiyan Fan, Hengxian Su, Hongliang Meng, Xin Zhang, Xifeng Li, Chuan-Zhi Duan, Xuying He
Introduction: Brain arteriovenous malformations (BAVMs) are high-flow intracranial vascular malformations characterized by the direct connection of arteries to veins without an intervening capillary bed. They are one of the main causes of intracranial hemorrhage and epilepsy, although morbidity is low. Angiogenesis, heredity, inflammation, and arteriovenous malformation syndromes play important roles in BAVM formation. Animal experiments and previous studies have confirmed that NOTCH4 may be associated with BAVM development. Our study identifies a connection between NOTCH4 gene polymorphisms and BAVM in a Chinese Han population.
Methods: We enrolled 150 patients with BAVMs confirmed by digital subtraction angiography (DSA) in the Department of Neurosurgery, Zhujiang Hospital, Southern Medical University from June 2017 to July 2019. Simultaneously, 150 patients without cerebrovascular disease were confirmed by computed tomography angiography/magnetic resonance angiography/DSA. DNA was extracted from peripheral blood and NOTCH4 genotypes were identified by PCR-ligase detection reaction. The χ2 test or Fisher's exact test was used to evaluate the differences in allele and genotype frequencies between the BAVM group, control group, bleeding group, and other complications.
Results: Two single-nucleotide polymorphisms (SNPs), rs443198 and rs438475, were significantly associated with BAVM. No SNP genotypes were significantly associated with hemorrhage or epilepsy. SNPs rs443198_AA-SNP and rs438475_AA-SNP may be associated with a lower risk of BAVM (p = 0.011, odds ratio (OR) = 0.459, 95% confidence interval (CI): 0.250-0.845; p = 0.033, OR = 0.759, 95% CI: 0.479-1.204).
Conclusion: NOTCH4 gene polymorphisms were associated with BAVM and may be a risk factor in a Chinese Han population.
{"title":"NOTCH4 Single-Nucleotide Polymorphism Is Associated with Brain Arteriovenous Malformation in a Chinese Han Population.","authors":"Ming Zhong, Jianbo Zhang, Zhenjun Li, Ziying Liu, Haiyan Fan, Hengxian Su, Hongliang Meng, Xin Zhang, Xifeng Li, Chuan-Zhi Duan, Xuying He","doi":"10.1159/000526434","DOIUrl":"https://doi.org/10.1159/000526434","url":null,"abstract":"<p><strong>Introduction: </strong>Brain arteriovenous malformations (BAVMs) are high-flow intracranial vascular malformations characterized by the direct connection of arteries to veins without an intervening capillary bed. They are one of the main causes of intracranial hemorrhage and epilepsy, although morbidity is low. Angiogenesis, heredity, inflammation, and arteriovenous malformation syndromes play important roles in BAVM formation. Animal experiments and previous studies have confirmed that NOTCH4 may be associated with BAVM development. Our study identifies a connection between NOTCH4 gene polymorphisms and BAVM in a Chinese Han population.</p><p><strong>Methods: </strong>We enrolled 150 patients with BAVMs confirmed by digital subtraction angiography (DSA) in the Department of Neurosurgery, Zhujiang Hospital, Southern Medical University from June 2017 to July 2019. Simultaneously, 150 patients without cerebrovascular disease were confirmed by computed tomography angiography/magnetic resonance angiography/DSA. DNA was extracted from peripheral blood and NOTCH4 genotypes were identified by PCR-ligase detection reaction. The χ2 test or Fisher's exact test was used to evaluate the differences in allele and genotype frequencies between the BAVM group, control group, bleeding group, and other complications.</p><p><strong>Results: </strong>Two single-nucleotide polymorphisms (SNPs), rs443198 and rs438475, were significantly associated with BAVM. No SNP genotypes were significantly associated with hemorrhage or epilepsy. SNPs rs443198_AA-SNP and rs438475_AA-SNP may be associated with a lower risk of BAVM (p = 0.011, odds ratio (OR) = 0.459, 95% confidence interval (CI): 0.250-0.845; p = 0.033, OR = 0.759, 95% CI: 0.479-1.204).</p><p><strong>Conclusion: </strong>NOTCH4 gene polymorphisms were associated with BAVM and may be a risk factor in a Chinese Han population.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":"86 2","pages":"107-115"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9528003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}