BMC Neurology最新文献

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Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy. Lafora病:一种罕见的遗传性疾病,表现为进行性肌阵挛性癫痫。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-29 DOI: 10.1186/s12883-025-04253-x
Ramtin Naderian, Farzane Vafaeian, Seyyed Mohamad Hoseini, Samira Sanami
{"title":"Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.","authors":"Ramtin Naderian, Farzane Vafaeian, Seyyed Mohamad Hoseini, Samira Sanami","doi":"10.1186/s12883-025-04253-x","DOIUrl":"https://doi.org/10.1186/s12883-025-04253-x","url":null,"abstract":"<p><strong>Background: </strong>Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various tissues. LD typically manifests during adolescence with progressive neurological decline, including myoclonic seizures, cognitive impairment, and ataxia. Early diagnosis is critical for symptom management, yet the disease remains challenging to treat due to its refractory nature.</p><p><strong>Case presentation: </strong>We report the case of a 15-year-old male who initially presented with tonic-clonic and myoclonic seizures, bilateral lower limb paralysis, and hand tremors. Despite normal initial imaging findings, subsequent clinical progression raised suspicion for progressive myoclonic epilepsy. Genetic testing identified a homozygous pathogenic variant in EPM2A, confirming the diagnosis of LD. electroencephalogram (EEG) findings evolved over time, showing generalized spikes, poly-spikes, and spike-wave complexes on a slow background, consistent with advanced LD. The patient's seizures proved refractory to standard anti-epileptic drugs, necessitating the addition of phenobarbital, metformin, and zonisamide, which eventually achieved partial seizure control. Family genetic screening identified heterozygous carriers without clinical symptoms, emphasizing the need for genetic counseling.</p><p><strong>Conclusions: </strong>This case highlights the diagnostic challenges of LD, particularly in its early stages when clinical and imaging findings may be nonspecific. The report underscores the importance of genetic testing in confirming the diagnosis and tailoring management strategies. Despite limited treatment options, individualized multi-drug regimens may help achieve partial symptom control. Early recognition and comprehensive management, including family counseling, are essential in improving quality of life for patients and their families.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"230"},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
A preliminary study of the reliability and validity of the Uyghur version of the NUCOG cognitive screening application. 维吾尔语版NUCOG认知筛选应用信度效度初步研究。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-29 DOI: 10.1186/s12883-025-04160-1
Nazuk Yusup, Altunsa Rahmat, Hongyan Li
{"title":"A preliminary study of the reliability and validity of the Uyghur version of the NUCOG cognitive screening application.","authors":"Nazuk Yusup, Altunsa Rahmat, Hongyan Li","doi":"10.1186/s12883-025-04160-1","DOIUrl":"https://doi.org/10.1186/s12883-025-04160-1","url":null,"abstract":"<p><strong>Introduction: </strong>Technological advances and artificial intelligence now make it feasible to administer cognitive assessments on touch-screen devices. The aim of this study is to develop a Uyghur version of the NUCOG cognitive screening application and evaluate its reliability, validity, and optimal cutoff scores among Uyghur people with cognitive impairment.</p><p><strong>Methods: </strong>The English version of the NUCOG app was translated and adapted into the Uyghur version (NUCOG-U). A total of 250 Uyghur people aged 55-80, including 90 normal controls, 91 patients with mild cognitive impairment (MCI), and 69 dementia patients, were randomly selected and administered with NUCOG, MoCA-U, Mini-Mental State Examination (MMSE), and other neuropsychological batteries. ROC curves were generated to determine the optimal cutoff values.</p><p><strong>Results: </strong>NUCOG-U version showed high internal consistency (Cronbach's α = 0. 826), inter-rater reliability (ICC = 0.999), and test - retest reliability (r = 0.998, p < 0.001). NUCOG scores were significantly correlated with those of MoCA-U (r = 0.896, p < 0.001) and MMSE(r = 0.899, p < 0.001). NUCOG scores were significantly different among the three groups (p < 0.001). The optimal cutoff value for MCI was 80.5, with a sensitivity of 100% and specificity of 73%, and 70 for dementia, with a sensitivity of 94.1% and specificity of 100%.</p><p><strong>Conclusion: </strong>The NUCOG-U shows high reliability and validity and is suitable for screening cognitive function in the elderly Uyghur population. The optimal cutoff scores to detect mild cognitive impairment and dementia in the Uyghur people are 80.5 and 70, respectively.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"229"},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Variant angina associated with a CGRP receptor antagonist: a case report. 与CGRP受体拮抗剂相关的变异性心绞痛:1例报告。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-29 DOI: 10.1186/s12883-025-04260-y
Hongki Jeon, Jin-Man Cho
{"title":"Variant angina associated with a CGRP receptor antagonist: a case report.","authors":"Hongki Jeon, Jin-Man Cho","doi":"10.1186/s12883-025-04260-y","DOIUrl":"https://doi.org/10.1186/s12883-025-04260-y","url":null,"abstract":"<p><strong>Background: </strong>Calcitonin gene-related peptide (CGRP) plays a pivotal role in migraine pathophysiology, and CGRP receptor antagonists are increasingly used for acute and preventive treatment. While considered to have minimal cardiovascular risk, real-world safety data remain limited, particularly in patients with cardiovascular comorbidities. We report a rare case of variant angina associated with atogepant, a novel oral CGRP receptor antagonist.</p><p><strong>Case presentation: </strong>A 57-year-old woman presented with new-onset, paroxysmal chest pain over three days, described as a squeezing sensation with diaphoresis, typically occurring during early morning hours and relieved by sublingual nitroglycerin. She had a history of hypertension and IgA nephropathy and had been using zolmitriptan for chronic migraine for several years. Atogepant 60 mg once daily was initiated four days prior to reduce triptan use. On symptom onset, troponin I was mildly elevated but normalized by admission. Coronary angiography revealed no fixed stenosis or thrombosis. Given the clear clinical presentation, further spasm provocation testing was not performed, and variant angina was diagnosed. As no other causes of coronary vasospasm were identified, atogepant was discontinued, and diltiazem with a long-acting nitrate was prescribed. She remained symptom-free during follow-up.</p><p><strong>Conclusions: </strong>This case suggests that atogepant may be associated with coronary vasospasm in patients with cardiovascular risk factors. Given CGRP's role as a potent vasodilator, its blockade may predispose to vasospasm in vulnerable individuals. Caution and close monitoring are warranted when prescribing CGRP receptor antagonists, particularly in those with cardiovascular comorbidities.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"231"},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Spinal cord infarction following neurointerventional procedures in the posterior cerebral circulation: a case analysis and systematic literature review. 脑后循环神经介入治疗后脊髓梗死一例分析及系统文献回顾。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-29 DOI: 10.1186/s12883-025-04255-9
Hanfeng Chen, Ziqi Xu, Yuan Fu
{"title":"Spinal cord infarction following neurointerventional procedures in the posterior cerebral circulation: a case analysis and systematic literature review.","authors":"Hanfeng Chen, Ziqi Xu, Yuan Fu","doi":"10.1186/s12883-025-04255-9","DOIUrl":"https://doi.org/10.1186/s12883-025-04255-9","url":null,"abstract":"<p><strong>Background: </strong>Spinal cord infarction, though rare, represents a severe complication of neurointerventional procedures involving the posterior vertebrobasilar circulation.</p><p><strong>Methods: </strong>We report the case of a 49-year-old male with acute basilar artery occlusion treated with staged endovascular therapy. Initial thrombectomy and balloon angioplasty successfully restored basilar artery flow. However, drug-coated balloon angioplasty for residual basilar artery stenosis on the second procedure triggered cervical spinal cord infarction. Based on this case, we conducted a systematic literature review to identify cases of spinal cord infarction following posterior circulation neurointerventions and investigate potential underlying mechanisms.</p><p><strong>Results: </strong>Among the 18 included studies and our own case report, 28 cases was identified. The mean age of the patients was 59 years, with a male predominance. Clinical manifestations and outcomes varied considerably depending on the level and laterality of spinal cord involvement. Procedure-induced hemodynamic insufficiency in the vertebral artery during neurointerventional procedures was identified as the primary mechanism (17 cases, 60.7%), followed by perioperative direct spinal artery occlusion (6 cases, 21.4%). Other potential contributing factors included systemic hypotension, inadequate antithrombotic management, stent-induced microthrombosis, and prolonged procedural duration.</p><p><strong>Conclusion: </strong>Clinicians must recognize hemodynamic hypoperfusion of spinal cord arteries due to vertebral artery flow disruption as a critical mechanism of this complication. Preoperative assessment of cervical spinal cord hemodynamic vulnerabilities, intraprocedural utilization of small-diameter catheters, and prompt management of vertebral artery flow stagnation are all important measures to mitigate the risk of spinal cord infarction.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"232"},"PeriodicalIF":2.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Septicemia following sudden pituitary apoplexy after bladder tumor surgery: a case report. 膀胱肿瘤术后突发性垂体中风并发败血症1例。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-28 DOI: 10.1186/s12883-025-04234-0
Fan Wu, Kaiyuan Huang, Jiqi Yang, Luyuan Zhang, Chao Zhang, Renya Zhan, Xinfa Pan
{"title":"Septicemia following sudden pituitary apoplexy after bladder tumor surgery: a case report.","authors":"Fan Wu, Kaiyuan Huang, Jiqi Yang, Luyuan Zhang, Chao Zhang, Renya Zhan, Xinfa Pan","doi":"10.1186/s12883-025-04234-0","DOIUrl":"https://doi.org/10.1186/s12883-025-04234-0","url":null,"abstract":"<p><strong>Background: </strong>Pituitary apoplexy is a clinical syndrome caused by hemorrhage or ischemia of a pituitary adenoma, typically presenting with sudden-onset headache, visual disturbances, and cranial nerve palsy. Pituitary apoplexy is relatively rare in clinical practice and is often triggered by an imbalance between the high metabolic demands of pituitary adenomas and their blood supply. Ischemic injury leads to pituitary cell necrosis, resulting in hypopituitarism, which can cause systemic multi-organ dysfunction and pose significant health risks.</p><p><strong>Case presentation: </strong>We report the case of a 73-year-old male admitted with Escherichia coli sepsis and septic shock secondary to a urinary tract infection. The patient had a history of bladder cancer and undergone bladder tumor resection one month prior, followed by intravesical chemotherapy. After initial anti-infective and glucose-lowering therapy, his condition improved. However, on the fourth day of admission, he developed a sudden headache. Further investigations revealed a sellar mass and hypopituitarism. A retrospective review of his history indicated postoperative atrial flutter and vision loss three weeks prior to admission. Pituitary apoplexy was suspected, and following infection control, the patient underwent endoscopic transnasal surgery. Pathological examination confirmed a pituitary adenoma with extensive infarction. Postoperatively, the patient's vision improved, and he was discharged on the 25th day of hospitalization.</p><p><strong>Conclusion: </strong>Pituitary apoplexy is a rare but potentially life-threatening condition that is often overlooked due to its nonspecific clinical manifestations. Diagnosing the condition is particularly challenging in the presence of concurrent severe infections. This case highlights the importance of carefully evaluating patients with postoperative headaches and vision changes. Cranial MRI and serum hormone testing should be considered to facilitate early diagnosis. Once confirmed, timely hormone replacement therapy and surgical intervention, when appropriate, can significantly improve patient outcomes.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"228"},"PeriodicalIF":2.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Relationship between neuron-specific enolase and swallowing dysfunction in patients with acute ischemic stroke: a single-center retrospective study. 急性缺血性脑卒中患者神经元特异性烯醇化酶与吞咽功能障碍的关系:一项单中心回顾性研究
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-27 DOI: 10.1186/s12883-025-04236-y
Danyang Meng, Yanjing Lu, Ning Chen, Jie Pan, Bingtong Lin, Jin Hu
{"title":"Relationship between neuron-specific enolase and swallowing dysfunction in patients with acute ischemic stroke: a single-center retrospective study.","authors":"Danyang Meng, Yanjing Lu, Ning Chen, Jie Pan, Bingtong Lin, Jin Hu","doi":"10.1186/s12883-025-04236-y","DOIUrl":"https://doi.org/10.1186/s12883-025-04236-y","url":null,"abstract":"<p><strong>Objective: </strong>This study was aimed to investigate the relationship between neuron-specific enolase (NSE) and swallowing dysfunction in patients with acute ischemic stroke (AIS) and evaluate the impact of early enteral nutrition intervention on NSE levels.</p><p><strong>Setting and participants: </strong>A retrospective study was conducted involving 445 AIS patients admitted to the neurology department of the Affiliated Hospital of Jiaxing University between September 2015 and August 2022. Data collected included gender, age, water-swallowing test (WST) score upon admission, and NSE examination results on admission, the 5th day, and the 10th day.</p><p><strong>Results: </strong>Among 445 enrolled AIS patients, 42.0% (187/445) exhibited swallowing dysfunction. Key findings revealed: (1) Positive correlation between WST severity and serum NSE levels across all timepoints (P < 0.05). (2) Dysphagia patients demonstrated elevated NSE levels versus controls (P < 0.05). (3) Early enteral nutrition intervention (n = 98) significantly reduced NSE levels by day 10 compared to non-intervention group (P < 0.05), though no intergroup differences were observed at admission or day 5 (P > 0.05).</p><p><strong>Conclusions: </strong>NSE measurement is a simple supplement to the WST. There existed a significant correlation between NSE and swallowing dysfunction, making NSE a potential preliminary screening indicator for evaluating in ischemic stroke patients. And early implementation of enteral nutrition intervention could effectively reduce NSE levels in patients with ischemic stroke.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"226"},"PeriodicalIF":2.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Mitotherapy in Alzheimer's and Parkinson's diseases: A systematic review of preclinical studies. 阿尔茨海默病和帕金森病的有丝分裂疗法:临床前研究的系统综述。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-27 DOI: 10.1186/s12883-025-04241-1
Aynur Modiri, Leila Hosseini, Nasrin Abolhasanpour, Hosein Azizi, Reza Naghdi Sadeh
{"title":"Mitotherapy in Alzheimer's and Parkinson's diseases: A systematic review of preclinical studies.","authors":"Aynur Modiri, Leila Hosseini, Nasrin Abolhasanpour, Hosein Azizi, Reza Naghdi Sadeh","doi":"10.1186/s12883-025-04241-1","DOIUrl":"https://doi.org/10.1186/s12883-025-04241-1","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease (AD) and Parkinson's disease (PD) are prevalent neurodegenerative disorders and strongly affect both the patients' lives and their caregivers. Strategy to improve and restore mitochondrial function, as well as to treat mitochondria-associated diseases, as observed in the pathophysiology of AD and PD. The current study aimed to investigate the potential of mitotherapy in AD and PD in preclinical studies.</p><p><strong>Methods: </strong>We conducted a systematic search of articles in English related to mitotherapy in AD and PD animal models published until October 2024 in the selected bibliographic databases, including PubMed, Scopus, EMBASE, and Google Scholar, and the reference lists of relevant review articles published. The quality of the final selected studies was assessed using the Collaborative Approach to Meta-Analysis and Review of Animal Studies (CAMARADES) checklists and the SYRCLE risk of bias tool. The initial search resulted in 231 studies, and after screening the titles and abstracts, 30 studies were recognized. Finally, 7 studies met the inclusion criteria.</p><p><strong>Results: </strong>Despite restricted knowledge of the mitotherapy mechanisms, evidence shows that exogenous mitochondria exert neuroprotective effects via improving mitochondrial function, reducing oxidative stress and inflammation in preclinical models of AD and PD.</p><p><strong>Conclusion: </strong>This systematic review summarizes the preclinical studies on mitotherapy and provides evidence favoring mitochondria transplantation's protective effects in animal PD and AD models.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"227"},"PeriodicalIF":2.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Cytomegalovirus primo-infection in Guillain-Barré syndrome during pregnancy, a case report of a very serious and rare case. 巨细胞病毒原代感染在妊娠期格林-巴-罗综合征中,报告1例极为严重和罕见的病例。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-26 DOI: 10.1186/s12883-025-04233-1
Martin Hänsel, Stylianos Kalimeris, Bettina Schreiner, Susanne Friedl, Vincenzo Cannizzaro, Emanuela Keller, Christian Haslinger, Giovanna Brandi
{"title":"Cytomegalovirus primo-infection in Guillain-Barré syndrome during pregnancy, a case report of a very serious and rare case.","authors":"Martin Hänsel, Stylianos Kalimeris, Bettina Schreiner, Susanne Friedl, Vincenzo Cannizzaro, Emanuela Keller, Christian Haslinger, Giovanna Brandi","doi":"10.1186/s12883-025-04233-1","DOIUrl":"10.1186/s12883-025-04233-1","url":null,"abstract":"<p><strong>Background: </strong>Guillain-Barré syndrome (GBS) during pregnancy can be a very severe and life-threatening condition for both mother and child. GBS due to cytomegalovirus (CMV) in pregnancy is even rarer and may be associated with more respiratory insufficiency, cranial nerve involvement and sensory loss in the mother.</p><p><strong>Case presentation: </strong>A 29-year-old secondparous woman at 25 weeks of gestation (WG) presented with a rapid ascending tetraparesis, bulbar paralysis, bilateral facial palsy, right-sided abducens paresis within 72 h of symptom onset and respiratory failure after 12 days. She needed intubation and mechanical ventilation for cumulative 42 days. GBS due to CMV primo-infection was diagnosed. A multidisciplinary team was involved to monitor and manage patient and fetus. In the electrodiagnostic studies, the patient presented severe primarily demyelinating features consistent with an acute inflammatory demyelinating (AIDP) GBS form treated with repeated plasma exchanges and administration of intravenous immunoglobulins. At 34 + 1 WG a cesarean delivery was performed, the newborn was healthy without intrauterine CMV-transmission.</p><p><strong>Conclusion: </strong>The optimal time of delivery for intubated pregnant GBS patients is unknown. The mother's respiratory and medical conditions should be assessed in relation to premature-associated morbidity of the newborn.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"224"},"PeriodicalIF":2.2,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and imaging features of parenchymal and non-parenchymal neuro-Behçet's disease: a systematic review of case reports and series. 实质性和非实质性神经behaperet病的临床和影像学特征:病例报告和系列的系统回顾。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-26 DOI: 10.1186/s12883-025-04250-0
Omar Al-Omoush, Majd M AlBarakat, Deya'a Alasmar, Ali Al-Khalaileh, Ahmad Alzoubi, Husam Tarakhan, Zaid Shakhatreh, Zaid Hatamleh, Mohammed Abu-Saleh, Othman Saleh, Abdalrahman Altiti, Wafa' A Hazaymeh, Sakhr Alshwayyat, Hamdah Hanifa, Ethar Hazaimeh
{"title":"Clinical and imaging features of parenchymal and non-parenchymal neuro-Behçet's disease: a systematic review of case reports and series.","authors":"Omar Al-Omoush, Majd M AlBarakat, Deya'a Alasmar, Ali Al-Khalaileh, Ahmad Alzoubi, Husam Tarakhan, Zaid Shakhatreh, Zaid Hatamleh, Mohammed Abu-Saleh, Othman Saleh, Abdalrahman Altiti, Wafa' A Hazaymeh, Sakhr Alshwayyat, Hamdah Hanifa, Ethar Hazaimeh","doi":"10.1186/s12883-025-04250-0","DOIUrl":"10.1186/s12883-025-04250-0","url":null,"abstract":"<p><strong>Background: </strong>Neuro-Behçet's Disease (NBD) is a serious neurological complication of Behçet's Disease, but there's still a lack of research on its early-stage symptoms and imaging findings. While previous research highlights MRI abnormalities and cerebrospinal fluid changes, there hasn't been a systematic effort to identify patterns specific to newly diagnosed patients. Our study aimed to investigate the clinical and imaging characteristics of newly diagnosed parenchymal and non-parenchymal NBD based on case reports and case series studies.</p><p><strong>Methods: </strong>We synthesized case reports and case series from MEDLINE, Scopus, EMBASE, PubMed, Web of Science, and Cochrane Library until October 17th,2023. Multiple statistical tests, such as the chi-square and Mann-Whitney tests, were used, with the corresponding 95% confidence interval (CI). The study protocol was registered with PROSPERO (ID: CRD42023472436). We included case reports and case series of adult patients (≥ 18 years) with a confirmed diagnosis of parenchymal or non-parenchymal Neuro-Behçet's disease (NBD), based on neurological symptoms attributed to Behçet's disease. Studies were required to report MRI findings demonstrating central or peripheral nervous system involvement.</p><p><strong>Results: </strong>Our analysis of 107 case reports and a case series (n = 174 patients) revealed that parenchymal NBD patients (n = 141; mean age 35.54 ± 13.33 years) frequently presented with ocular manifestations (80.9%), pyramidal signs (57.5%), cranial nerve palsies (50.4%), and headache (32.6%) while non-parenchymal NBD patients (n = 19; mean age 28.68 ± 10.67 years) commonly experienced headache (86.4%), papilledema (47.4%), cranial nerve palsies (42.1%), and nausea (31.6%). For the mixed-type group (n = 14; mean age 27.5 ± 11.57 years), commonly presented with headache (64.3%), pyramidal sign (50%), fever (50%), and diplopia (35.7%). Brainstem involvement for parenchymal NBD predominated in acute and chronic cases. Contrast enhancement was significantly more prevalent in acute NBD compared to chronic progressive NBD.</p><p><strong>Conclusion: </strong>Neuro-Behçet's disease is an uncommon but serious medical condition with varying symptoms based on its type. Parenchymal and non-parenchymal NBD have unique patterns, with parenchymal cases exhibiting primarily ocular symptoms and pyramidal signs, while non-parenchymal cases present with headache and papilledema. Patients with both types of features were more likely to experience headaches, pyramidal symptoms, fever, and diplopia. Recognizing these patterns can help diagnose and treat the disease earlier.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"225"},"PeriodicalIF":2.2,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A telemedicine tool for acute stroke management in Malaysia: a smartphone application. 马来西亚急性中风管理的远程医疗工具:一款智能手机应用程序。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-05-26 DOI: 10.1186/s12883-025-04219-z
Hong Chuan Loh, Teck Long King, Irene Looi, Wan Chung Law
{"title":"A telemedicine tool for acute stroke management in Malaysia: a smartphone application.","authors":"Hong Chuan Loh, Teck Long King, Irene Looi, Wan Chung Law","doi":"10.1186/s12883-025-04219-z","DOIUrl":"https://doi.org/10.1186/s12883-025-04219-z","url":null,"abstract":"<p><strong>Background: </strong>Accurate assessment of stroke severity, precise neuroimaging diagnosis, and seamless coordination among stakeholders are crucial in ensuring prompt diagnosis and treatment during acute stroke activation. The study aimed to assess how the telestroke tool JOIN enhances time metrics in acute stroke care, specifically by improving decision-making speed and thereby enhancing patients' clinical outcomes.</p><p><strong>Methods: </strong>This prospective cohort study was conducted at Seberang Jaya Hospital and Umum Sarawak Hospital in Malaysia. It included adult ischaemic stroke patients who arrived within 4.5 h of stroke onset at one of the two locations. Patients were divided into two groups: the pre-JOIN period using conventional communication versus the JOIN period using JOIN. Time metrics were collected from medical records and/or social networking services (pre-JOIN), and timestamp data (JOIN). Analysis was performed using the Statistical Package for the Social Sciences, with a total sample size of 120 patients.</p><p><strong>Results: </strong>With 60 patients in each group (pre-JOIN and JOIN), the mean (SD) ages were 57 (12.6) and 60 (14.1) respectively. Patients in both groups were similar at baseline, showing comparable stroke subtypes, events, and severity, primarily Lacunar Anterior Circulation Infarct with mild stroke as their initial occurrence. Both median door-to-imaging time and door-to-decision time were reduced by 6 min with JOIN, although the difference was not statistically significant. Thrombolysis rates and symptomatic intracranial haemorrhages were similar between groups, but door-to-needle time was significantly shorter with JOIN (78 [28.0] minutes versus 45 [42.0] minutes, p = 0.008). Most patients were discharged alive with similar modified Rankin Scale scores between the groups.</p><p><strong>Conclusions: </strong>Door-to-needle time was shorter in the post-JOIN period than in the pre-JOIN period, suggesting that the implementation of JOIN may contribute to improved time metrics in acute stroke care. Its safety, affordability, ease of use, and additional features make it a promising telestroke tool, crucial for handling high patient volumes with limited resources.</p><p><strong>Trial registration: </strong>This study was registered with the Malaysian National Medical Research Register and received ethical approval (NMRR ID-21-02363-XFT) from the Medical Research and Ethics Committee, Ministry of Health Malaysia dated 30-March-2023.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"222"},"PeriodicalIF":2.2,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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