Canadian Journal of Neurological Sciences最新文献_第9页

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program. 安大略省癫痫基因检测项目癫痫基因检测的临床实施和结果。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-14 DOI: 10.1017/cjn.2025.69

Tugce B Balci, Laila C Schenkel, Cassandra Rastin, Kevin Jones, Lysa Boissé Lomax, Jacob Turowec, Jennifer Kerkhof, Pratibha Bhai, Olga Jarinova, Stacy Hewson, A Narayan Prasad, O Carter Snead, David A Dyment, Bekim Sadikovic

{"title":"Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.","authors":"Tugce B Balci, Laila C Schenkel, Cassandra Rastin, Kevin Jones, Lysa Boissé Lomax, Jacob Turowec, Jennifer Kerkhof, Pratibha Bhai, Olga Jarinova, Stacy Hewson, A Narayan Prasad, O Carter Snead, David A Dyment, Bekim Sadikovic","doi":"10.1017/cjn.2025.69","DOIUrl":"10.1017/cjn.2025.69","url":null,"abstract":"Background: Epilepsy is a relatively common condition that affects approximately 4-5 per 1000 individuals in Ontario, Canada. While genetic testing is now prevalent in diagnostic and therapeutic care plans, optimal test selection and interpretation of results in a patient-specific context can be inconsistent and provider dependent.Methods: The first of its kind, the Ontario Epilepsy Genetic Testing Program (OEGTP) was launched in 2020 to develop clinical testing criteria, curate gene content, standardize the technical testing criteria through a centralized testing laboratory, assess diagnostic yield and clinical utility and increase genetics literacy among providers.Results: Here we present the results of the first two years of the program, demonstrating the overall 20.8% diagnostic yield including pathogenic sequence and copy number variation detected by next-generation sequencing panels. Routine follow-up testing of family members enabled the resolution of ambiguous findings. Post-test outcomes were collected as reported by the ordering clinicians, highlighting the clinical benefits of genetic testing.Conclusion: This programmatic approach to genetic testing in epilepsy by OEGTP, together with engagement of clinical and laboratory stakeholders, provided a unique opportunity to gather insight into province-wide implementation of a genetic testing program.","PeriodicalId":56134,"journal":{"name":"Canadian Journal of Neurological Sciences","volume":" ","pages":"1-12"},"PeriodicalIF":2.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051163","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}

引用次数: 0

Hyperkinetic Lingual Movements Resulting from Epileptogenesis: A 13-Patient Cohort Study on Lingual Seizures. 癫痫发生引起的舌部运动过度；舌部癫痫发作的13例队列研究。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-14 DOI: 10.1017/cjn.2025.76

Seyma Aykac, Aysen Süzen Ekinci, Cenk Eraslan, Ayse Guler, Fikret Bademkıran, Burhanettin Uludag, Ibrahim Aydogdu

{"title":"Hyperkinetic Lingual Movements Resulting from Epileptogenesis: A 13-Patient Cohort Study on Lingual Seizures.","authors":"Seyma Aykac, Aysen Süzen Ekinci, Cenk Eraslan, Ayse Guler, Fikret Bademkıran, Burhanettin Uludag, Ibrahim Aydogdu","doi":"10.1017/cjn.2025.76","DOIUrl":"10.1017/cjn.2025.76","url":null,"abstract":"Objectives: Lingual seizures are rare hyperkinetic tongue movements with significant clinical implications due to their epileptogenic origin. Despite their diagnostic value, these seizures are often underrecognized, particularly when electroencephalographic (EEG) findings are inconclusive. This study aims to characterize their clinical features, EEG patterns, imaging findings and underlying causes, emphasizing the need for increased awareness and improved diagnosis.Methods: A retrospective review identified patients with isolated lingual seizures or those with additional motor involvement. Data on demographics, seizure characteristics, EEG findings, imaging results and underlying causes were collected and analyzed. Seizures were classified based on the International League Against Epilepsy (ILAE) 2017 framework to refine their clinical and diagnostic profiles.Results: Thirteen patients were identified: 11 with focal-aware and 1 with focal-unaware seizures. Seven had epilepsia partialis continua, and five experienced frequent seizures. Seizure involvement was limited to the tongue in four cases, extended to cranial muscles in seven and affected the tongue, cranial and extremity muscles in two. Significant ictal EEG findings were noted in only three patients with extensive motor involvement. However, nine patients had acute cerebral lesions, associated with glial tumors, encephalitis, chronic gliosis or cortical hemorrhage.Conclusions: This study provides a detailed characterization of lingual seizures, highlighting their clinical, electrophysiological and imaging features. Given their rarity and underdiagnosis, our findings offer valuable guidance for clinicians, underscoring the importance of improved recognition and diagnostic strategies for this distinct seizure type.","PeriodicalId":56134,"journal":{"name":"Canadian Journal of Neurological Sciences","volume":" ","pages":"1-11"},"PeriodicalIF":2.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056508","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}

引用次数: 0

Reviewer comment on Yao et al.: "Cannabis Use Prevalence and Correlates in Patients Attending a Canadian Cognitive Clinic". 审稿人对Yao等人的评论：“在加拿大一家认知诊所就诊的患者中，大麻使用的流行程度及其相关因素”。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-14 DOI: 10.1017/cjn.2025.66

Lucy J Troup

引用次数: 0

The impact of low-cost customized cranioplasty implants in a low-income population: does their quality of life improve? 低成本定制颅骨成形术对低收入人群的影响：他们的生活质量提高了吗？

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-11 DOI: 10.1017/cjn.2025.49

Jorge Alberto Cantú-Hernández, Cesar Alessandro Ramos-Delgado, Leopoldo Pérez-García, Jesús Alberto Morales-Gómez, André Maximiliano Ávila-Velázquez, Adriana Montserrat Ferrera-Solís, Omar Guadiana-Ruano, Marco Antonio Villegas-Aguilera, Ángel Raymundo Martínez-Ponce de León

引用次数: 0

Cannabis Use Prevalence and Correlates in Patients Attending a Canadian Cognitive Clinic. 加拿大认知诊所患者的大麻使用率及其相关因素

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-10 DOI: 10.1017/cjn.2025.64

Yvette Y Yao, Colleen J Maxwell, Zahinoor Ismail, Kimberly G Williams, Karyn Fischer, David B Hogan, Dallas P Seitz, Eric E Smith

{"title":"Cannabis Use Prevalence and Correlates in Patients Attending a Canadian Cognitive Clinic.","authors":"Yvette Y Yao, Colleen J Maxwell, Zahinoor Ismail, Kimberly G Williams, Karyn Fischer, David B Hogan, Dallas P Seitz, Eric E Smith","doi":"10.1017/cjn.2025.64","DOIUrl":"10.1017/cjn.2025.64","url":null,"abstract":"Background: Since cannabis was legalized in Canada in 2018, its use among older adults has increased. Although cannabis may exacerbate cognitive impairment, there are few studies on its use among older adults being evaluated for cognitive disorders.Methods: We analyzed data from 238 patients who attended a cognitive clinic between 2019 and 2023 and provided data on cannabis use. Health professionals collected information using a standardized case report form.Results: Cannabis use was reported by 23 out of 238 patients (9.7%): 12 took cannabis for recreation, 8 for medicinal purposes and 3 for both purposes. Compared to non-users, cannabis users were younger (mean ± SD 62.0 ± 7.5 vs 68.9 ± 9.5 years; p = 0.001), more likely to have a mood disorder (p < 0.05) and be current or former cigarette smokers (p < 0.05). There were no significant differences in sex, race or education. The proportion with dementia compared with pre-dementia cognitive states did not differ significantly in users compared with non-users. Cognitive test scores were similar in users compared with non-users (Montreal Cognitive Assessment: 20.4 ± 5.0 vs 20.7 ± 4.5, p = 0.81; Folstein Mini-Mental Status Exam: 24.5 ± 5.1 vs 26.0 ± 3.6, p = 0.25). The prevalence of insomnia, obstructive sleep apnea, anxiety disorders, alcohol use or psychotic disorders did not differ significantly.Conclusion: The prevalence of cannabis use among patients with cognitive concerns in this study was similar to the general Canadian population aged 65 and older. Further research is necessary to investigate patients' motivations for use and explore the relationship between cannabis use and mood disorders and cognitive decline.","PeriodicalId":56134,"journal":{"name":"Canadian Journal of Neurological Sciences","volume":" ","pages":"1-7"},"PeriodicalIF":2.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056504","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}

引用次数: 0

Accuracy of Clinical Assessments with Virtual Care in Outpatient Neurological Setting. 门诊神经内科虚拟护理临床评估的准确性。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1017/cjn.2025.63

Julia Pellegrino, Sara B Mitchell, Liesly Lee

引用次数: 0

Current trends in the surgical management of spontaneous lobar intracerebral hemorrhage in Canada: A nationwide survey. 加拿大自发性脑叶内出血手术治疗的当前趋势：全国性调查。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-03 DOI: 10.1017/cjn.2025.60

Catherine Veilleux, Andrew M Demchuk, Garnette R Sutherland, Sanju Lama, William K Diprose, Alexander D Rebchuk, Matthew E Eagles, Jenna Smith-Forrester, Armaan K Malhotra, Andrew Ajisebutu, Tristan Brunette-Clément, Anne-Marie Langlois, Braeden D Newton, Michael D Hill

引用次数: 0

Canadian Leader in Neurology: Dr Adrian Budhram. 加拿大神经学领袖：Adrian Budhram博士。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-02 DOI: 10.1017/cjn.2025.57

Alex P Vu

引用次数: 0

Impact of Periprocedural Hemoglobin Level on the Outcomes of Endovascular Thrombectomy in Acute Ischemic Stroke Patients. 急性缺血性脑卒中患者术中血红蛋白水平对血管内取栓效果的影响。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-02 DOI: 10.1017/cjn.2025.51

Zaid Najdawi, Mohamed Elfil, Abdallah Abbas, Lilian Maria Godeiro Coelho, Ahmed Samir, Sharon Peng, Mohammad Aladawi, Hazem S Ghaith, Mohammad El-Ghanem, Chirag D Gandhi, Fawaz Al-Mufti

{"title":"Impact of Periprocedural Hemoglobin Level on the Outcomes of Endovascular Thrombectomy in Acute Ischemic Stroke Patients.","authors":"Zaid Najdawi, Mohamed Elfil, Abdallah Abbas, Lilian Maria Godeiro Coelho, Ahmed Samir, Sharon Peng, Mohammad Aladawi, Hazem S Ghaith, Mohammad El-Ghanem, Chirag D Gandhi, Fawaz Al-Mufti","doi":"10.1017/cjn.2025.51","DOIUrl":"10.1017/cjn.2025.51","url":null,"abstract":"Background: Endovascular thrombectomy (EVT) is the gold standard treatment for acute ischemic stroke (AIS) patients with large vessel occlusion (LVO). Multiple factors can influence EVT outcomes, including procedural and patient-related variables. This meta-analysis investigated the impact of periprocedural hemoglobin (Hb) levels on EVT outcomes.Methods: We performed a comprehensive literature search across PubMed, Scopus, Web of Science and Cochrane CENTRAL. We analyzed the mean difference (MD) in Hb levels between good (modified Rankin Scale [mRS] 0-2) and poor (mRS 3-6) prognosis groups. We calculated pooled odds ratios (OR) for Hb levels as a predictor of prognosis and compared mortality and symptomatic intracranial hemorrhage (sICH) across different Hb levels.Results: The analysis included 921 patients from four studies. Patients in the good prognosis group had significantly higher Hb levels (MD: 0.48 g/dL, 95% CI: [0.2, 0.75], P = 0.0007). Each 1 g/dL increase in Hb was associated with a 22% increase in the odds of achieving a good three-month prognosis (OR: 1.22, 95% CI: [1.13, 1.33], P < 0.00001). Patients with Hb levels ≤13 g/dL in males and ≤12 g/dL in females were 1.69 times more likely to experience mortality (OR: 1.69, 95% CI: [1.1, 2.59], P = 0.02). No significant difference was observed in sICH occurrence between anemic and non-anemic patients.Conclusion: Higher Hb levels may be associated with improved prognosis, and lower Hb levels might increase mortality risk in AIS-LVO patients undergoing EVT. Further research is needed to validate these findings.","PeriodicalId":56134,"journal":{"name":"Canadian Journal of Neurological Sciences","volume":" ","pages":"1-8"},"PeriodicalIF":2.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143766026","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}

引用次数: 0

Unexpected Route: Subarachnoid Migration of Intravitreal Tamponade Agents. 意外途径：玻璃体内填塞剂的蛛网膜下腔迁移。

IF 2.9 4区医学

Canadian Journal of Neurological Sciences Pub Date : 2025-04-02 DOI: 10.1017/cjn.2025.59

Lara Hemerly De Mori, Luciane Dos Santos Oliveira, Débora de Carvalho Garcez, Diogo Goulart Corrêa

引用次数: 0