Acta neurologica Belgica最新文献_第4页

Recurrence of Susac syndrome after 20 years of remission. 缓解20年后复发的Susac综合征。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-04-03 DOI: 10.1007/s13760-025-02772-5

Adnane El Fahdi, Souraya El Sankari

引用次数: 0

Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review. 表征和扩展PHARC综合征的神经学临床谱：一项系统综述。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-03-11 DOI: 10.1007/s13760-025-02721-2

Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Paulo Bugalho, Raquel Barbosa

{"title":"Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.","authors":"Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Paulo Bugalho, Raquel Barbosa","doi":"10.1007/s13760-025-02721-2","DOIUrl":"10.1007/s13760-025-02721-2","url":null,"abstract":"PHARC syndrome is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene and is characterized by five main clinical features: polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. This systematic review aimed to characterize the neurological features of PHARC syndrome and identify potential new clinical features. A systematic search of studies reporting cases of PHARC syndrome was conducted using PubMed/MEDLINE and NLM databases, identifying 57 unique cases. The results showed that hearing loss was the most common initial symptom, with a complete syndrome observed in only 31.6% of reported cases. The mean diagnostic delay from the appearance of the first PHARC-related symptom to diagnosis was 20.5 years. Although pyramidal signs are not classically associated with PHARC syndrome, they were a prevalent feature when assessed. Patients with pyramidal signs were more likely to exhibit an ataxic phenotype (p-value 0.018), a complete syndrome (p-value 0.092), and cerebellar atrophy on MRI (p-value 0.001), compared to those without pyramidal signs. This review further supports the highly variable phenotype of PHARC syndrome and the lack of a clear genotype-phenotype correlation. Further research is needed to clarify the relevance of these findings within the clinical spectrum of PHARC syndrome.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"737-743"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595814","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

Gaze palsy in glycine receptor antibody-mediated autoimmune encephalitis: a case report. 甘氨酸受体抗体介导的自身免疫性脑炎中的凝视麻痹：病例报告。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-11-08 DOI: 10.1007/s13760-024-02681-z

Wan Jiang, Chong Wang, Yun Xu, Qing Ye

引用次数: 0

Associations of plasma Neurofilament light chain with sarcopenia and physical capacity in patients with Alzheimer's diseases. 阿尔茨海默病患者血浆神经丝轻链与肌肉减少症和体能的关系

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-03-11 DOI: 10.1007/s13760-025-02759-2

Rizwan Qaisar, Asima Karim, M Shahid Iqbal, Shaea A Alkahtani, Firdos Ahmad

{"title":"Associations of plasma Neurofilament light chain with sarcopenia and physical capacity in patients with Alzheimer's diseases.","authors":"Rizwan Qaisar, Asima Karim, M Shahid Iqbal, Shaea A Alkahtani, Firdos Ahmad","doi":"10.1007/s13760-025-02759-2","DOIUrl":"10.1007/s13760-025-02759-2","url":null,"abstract":"Background: Despite the close association of Alzheimer's disease (AD) with muscle decline, the biomarkers of age-related muscle loss, termed sarcopenia, in AD remain elusive.Objectives: We investigated the plasma neurofilament light (NfL) chain levels as potential biomarkers of sarcopenia in AD patients. DESIGN SETTING, PARTICIPANTS, MEASUREMENTS: We conducted a cross-sectional, observational study on older adults, including controls and patients with AD (n = 38-44/group). We measured the frequency of sarcopenia, body composition, handgrip strength (HGS), gait speed, and short physical performance battery (SPPB) in the study participants. We also measured the plasma NfL levels as marker of neurodegeneration.Results: AD was associated with a higher frequency of sarcopenia and reduced HGS, gait speed, and SPPB scores (all p < 0.05). The higher plasma NfL levels in AD patients were correlated with lower HGS, gait speed, and SPPB scores (all p < 0.05). Plasma NfL exhibited moderate accuracy in diagnosing sarcopenia (area under the curve; AUC = 0.701, p < 0.001) and functional dependency (AUC = 0.772, p < 0.001). Among different subgroups of AD, moderate AD was associated with more advanced sarcopenia and functional dependency than early and mild AD. Patients with AD also exhibited heightened inflammation and oxidative stress.Conclusion: Altogether, plasma NfL may be a preliminary tool in diagnosing advanced sarcopenia and functional dependency in AD. The study is relevant to non-ambulant and/or comatose AD patients with sarcopenia.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"691-698"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596097","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

Tofacitinib as maintenance therapy for refractory Neurosarcoidosis. 托法替尼作为难治性神经肉芽肿病的维持疗法。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-11-06 DOI: 10.1007/s13760-024-02680-0

Maria Ciravegna Fonseca de Melo Bandeira, Vincent Van Pesch, Valeria Onofrj, Tévi Morel Lawson, Halil Yildiz

引用次数: 0

Split syndrome with acute-onset hemichorea and contralateral progressive parkinsonism: a case report. 伴有急性发作性肢痛症和对侧进行性帕金森病的分裂综合征：病例报告。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-12-20 DOI: 10.1007/s13760-024-02704-9

Francescantonio Cammarota, Cristina Tassorelli, Giuseppe Cosentino, Anna Pichiecchio, Massimiliano Todisco

引用次数: 0

A case of MOG antibody-positive unilateral optic neuritis following a pulmonary tuberculosis infection. 肺结核感染后单侧视神经炎MOG抗体阳性1例。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-02-17 DOI: 10.1007/s13760-025-02745-8

Mi Xiong, Rui Gu, Yan Liu

引用次数: 0

Endocrine dysfunction post-traumatic brain injury: challenges and therapeutic approaches. 创伤性脑损伤后的内分泌功能障碍：挑战与治疗方法。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-03-07 DOI: 10.1007/s13760-025-02755-6

Zahra Soltani, Masoud Nazari, Meisam Babaei, Habibesadat Shakeri, Sediqeh Jalali, Vahid Hajali, Zakieh Keshavarzi

{"title":"Endocrine dysfunction post-traumatic brain injury: challenges and therapeutic approaches.","authors":"Zahra Soltani, Masoud Nazari, Meisam Babaei, Habibesadat Shakeri, Sediqeh Jalali, Vahid Hajali, Zakieh Keshavarzi","doi":"10.1007/s13760-025-02755-6","DOIUrl":"10.1007/s13760-025-02755-6","url":null,"abstract":"Traumatic brain injury (TBI) is a widespread, serious public health concern with substantial lasting effects, such as impacting the endocrine system. Here, we review the complications and consequences of TBI on the hypothalamic-pituitary axis (HPA) and connected endocrine glands, which are essential for maintaining body balance. Endocrine dysfunctions caused by TBI, especially hypopituitarism, can result in hormonal imbalances that impact various physiological systems, such as growth, metabolism, reproduction, and stress responses. These dysfunctions can cause issues like adrenal insufficiency, hypothyroidism, and hypogonadism, greatly affecting the quality of life of survivors. In cases of moderate to severe TBI, up to 40% of individuals may suffer from post-TBI hypopituitarism, leading to extended morbidity. The introduced treatment methods concentrate on different therapeutic options, including hormone replacement therapies (HRTs) (corticosteroid, growth, thyroid, and sex hormones replacement therapies), emerging plant-based bioactive compounds, and other options to address particular deficiencies. Simultaneously, there is a growing interest in novel bioactive compounds derived from plants because of their neuroprotective and anti-inflammatory properties. In addition, certain populations, such as veterans and children, are more likely to develop endocrine dysfunction due to TBI. Comprehensive, cross-disciplinary care and individualized treatment plans are crucial to improve outcomes and long-term recovery for TBI patients. Further investigation is needed to enhance diagnostic instruments, explore novel therapies, and establish predictive biomarkers for early intervention in TBI-induced endocrine disorders.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"649-660"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571645","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

The performance of machine learning for predicting the recurrent stroke: a systematic review and meta-analysis on 24,350 patients. 机器学习预测复发性中风的性能：对 24,350 名患者的系统回顾和荟萃分析。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2024-11-07 DOI: 10.1007/s13760-024-02682-y

Mohammad Amin Habibi, Farhang Rashidi, Ehsan Mehrtabar, Mohammad Reza Arshadi, Mohammad Sadegh Fallahi, Nikan Amirkhani, Bardia Hajikarimloo, Milad Shafizadeh, Shahram Majidi, Adam A Dmytriw

{"title":"The performance of machine learning for predicting the recurrent stroke: a systematic review and meta-analysis on 24,350 patients.","authors":"Mohammad Amin Habibi, Farhang Rashidi, Ehsan Mehrtabar, Mohammad Reza Arshadi, Mohammad Sadegh Fallahi, Nikan Amirkhani, Bardia Hajikarimloo, Milad Shafizadeh, Shahram Majidi, Adam A Dmytriw","doi":"10.1007/s13760-024-02682-y","DOIUrl":"10.1007/s13760-024-02682-y","url":null,"abstract":"Background: Stroke is a leading cause of death and disability worldwide. Approximately one-third of patients with stroke experienced a second stroke. This study investigates the predictive value of machine learning (ML) algorithms for recurrent stroke.Method: This study was prepared according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. PubMed, Scopus, Embase, and Web of Science (WOS) were searched until January 1, 2024. The quality assessment of studies was conducted using the QUADAS-2 tool. The diagnostic meta-analysis was conducted to calculate the pooled sensitivity, specificity, diagnostic accuracy, positive and negative diagnostic likelihood ratio (DLR), diagnostic accuracy, diagnostic odds ratio (DOR), and area under of the curve (AUC) by the MIDAS package in STATA V.17.Results: Twelve studies, comprising 24,350 individuals, were included. The meta-analysis revealed a sensitivity of 71% (95% CI 0.64-0.78) and a specificity of 88% (95% confidence interval (CI) 0.76-0.95). Positive and negative DLR were 5.93 (95% CI 3.05-11.55) and 0.33 (95% CI 0.28-0.39), respectively. The diagnostic accuracy and DOR was 2.89 (95% CI 2.32-3.46) and 18.04 (95% CI 10.21-31.87), respectively. The summary ROC curve indicated an AUC of 0.82 (95% CI 0.78-0.85).Conclusion: ML demonstrates promise in predicting recurrent strokes, with moderate to high sensitivity and specificity. However, the high heterogeneity observed underscores the need for standardized approaches and further research to enhance the reliability and generalizability of these models. ML-based recurrent stroke prediction can potentially augment clinical decision-making and improve patient outcomes by identifying high-risk patients.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"609-624"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589467","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

Detection of NLRP3, ASC, and Caspase-1 in serum and cerebrospinal fluid of traumatic brain injury patients: implications for short-term prognosis. 外伤性脑损伤患者血清和脑脊液中NLRP3、ASC和Caspase-1的检测：对短期预后的影响

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2025-06-01 Epub Date: 2025-03-11 DOI: 10.1007/s13760-025-02761-8

Adilijiang Aihemaitiniyazi, Kuo Ma, Jinhui Xu, Hua Chen, Xianglu Liu, Jilin Li

{"title":"Detection of NLRP3, ASC, and Caspase-1 in serum and cerebrospinal fluid of traumatic brain injury patients: implications for short-term prognosis.","authors":"Adilijiang Aihemaitiniyazi, Kuo Ma, Jinhui Xu, Hua Chen, Xianglu Liu, Jilin Li","doi":"10.1007/s13760-025-02761-8","DOIUrl":"10.1007/s13760-025-02761-8","url":null,"abstract":"Objectives: Traumatic brain injury (TBI) is a critical public health issue with high mortality and disability rates. Current diagnostic tools lack sensitivity and specificity, under-scoring the need for novel biomarkers. This study aimed to evaluate the clinical utility of NLRP3, ASC, and Caspase-1 as biomarkers for assessing TBI severity and prognosis.Methods: A prospective cohort of 89 patients with moderate-to-severe TBI was studied. Blood and cerebrospinal fluid (CSF) samples were collected for four consecutive days post-injury. Levels of NLRP3, ASC, and Caspase-1 were measured using enzyme-linked immunosorbent as-say (ELISA). Statistical analyses, including ROC curve analysis, were conducted to assess their predictive performance.Results: NLRP3, ASC, and Caspase-1 levels in both serum and CSF were significantly elevated in TBI patients, with higher levels correlating with greater injury severity. ROC analysis revealed that CSF biomarkers, particularly NLRP3, demonstrated superior predictive value. CSF NLRP3 levels on days 1, 2, and 4 had AUC values of 0.9871, 0.9466, and 0.8967, respectively. Dynamic changes in these biomarkers over time provided insights into disease progression and prognosis. Serum markers, while less predictive than CSF, were also effective for assessing injury severity.Conclusions: NLRP3, ASC, and Caspase-1 are promising biomarkers for evaluating TBI severity and predicting outcomes. Their dynamic monitoring may improve clinical management and in-form therapeutic strategies. Future research should validate these findings in larger cohorts and explore interventions targeting these inflammatory pathways.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"745-755"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603306","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}

引用次数: 0