Annals of Clinical and Translational Neurology最新文献

{"title":"White matter hyperintensities and cholinergic degeneration as Lewy body disease","authors":"Sungwoo Kang,&nbsp;Seun Jeon,&nbsp;Yeoju Kim,&nbsp;Su-Hee Jeon,&nbsp;Minsun Choi,&nbsp;Young-gun Lee,&nbsp;Mijin Yun,&nbsp;Byoung Seok Ye","doi":"10.1002/acn3.52257","DOIUrl":"10.1002/acn3.52257","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Although basal forebrain (BF) cholinergic degeneration and white matter hyperintensities (WMHs) are important in neurodegeneration in Alzheimer's disease (AD) and dementia with Lewy bodies (DLB), their relationships with dopaminergic degeneration and clinical manifestations remain unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 407 patients with cognitive impairment meeting the diagnostic criteria for AD, DLB, or both (AD+DLB) were assessed. All participants underwent 3T MRI, dopamine transporter (DAT) positron emission tomography, neuropsychological tests, and assessments for parkinsonism, cognitive fluctuation, visual hallucination, and rapid eye movement sleep behavior disorder (RBD). General linear and logistic regression models were used to investigate the relationships among BF volume, DAT uptake in the anterior caudate (DAT-AC), WMH volumes in anterior, posterior, periventricular, and deep regions, and clinical manifestations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>DAT-AC was positively associated with BF volume and negatively associated with anterior periventricular WMH volume, but not with deep WMHs. Both deep and periventricular WMHs volumes were associated with hypertension and the number of microbleeds and lacunae. Lower BF volume and DAT-AC were independently associated with increased risk of cognitive fluctuation and visual hallucination, whereas lower DAT-AC was additionally associated with increased risk of RBD and greater parkinsonian severity. Both lower BF volume and DAT-AC were independently associated with widespread cognitive impairment, whereas higher anterior periventricular WMH volume was associated with executive dysfunction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>BF cholinergic degeneration and anterior periventricular WMHs are closely associated with dopaminergic degeneration. Anterior periventricular WMHs may represent axonal alterations caused by the interplay between Lewy body-related degeneration and vascular pathologies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"97-109"},"PeriodicalIF":4.4,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laser interstitial thermal therapy in the management of bottom-of-sulcus dysplasia-related epilepsy","authors":"Bowen Yang,&nbsp;Chao Zhang,&nbsp;Xiu Wang,&nbsp;Baotian Zhao,&nbsp;Jiajie Mo,&nbsp;Weiyuan Luo,&nbsp;Xiaoqiu Shao,&nbsp;Jianguo Zhang,&nbsp;Kai Zhang,&nbsp;Wenhan Hu","doi":"10.1002/acn3.52258","DOIUrl":"10.1002/acn3.52258","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study assessed the efficacy and safety of magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) versus open surgery (OS) for the treatment of patients with bottom-of-sulcus dysplasia (BOSD)-related epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Twenty-two patients underwent MRgLITT, while 39 underwent OS. Postoperative seizure-free rates were analyzed using Kaplan–Meier curves. The removal ratio, which represents the extent of damage, was calculated based on preoperative lesion volume and postoperative removal volume. Other outcomes, including adverse events, operative time, and hospital stay, were also compared.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Kaplan–Meier curves indicated the seizure-free rates were comparable between the MRgLITT group (90.9%, 26.5 [23.0, 35.1] months) and OS group (89.7%, 25.2 [16.2, 34.6] months) at the final follow-up (<i>p</i> = 0.901, log-rank test). The removal ratio of MRgLITT (1.3 [1.1, 1.7]) was significantly lower (<i>p</i> = 0.007) than that of OS (5.8 [3.6, 8.5]). A comparison of postoperative neurological deficits, infection rates, and fever rates revealed no significant differences between MRgLITT and OS groups. The operative time (hours) of MRgLITT (3.0, [2.1, 4.9]) was significantly shorter (<i>p</i> = 0.007) than that of OS (3.5 [3.0, 4.5]). The hospital stay (days) after MRgLITT (6 [5.0, 7.5]) was significantly shorter (<i>p</i> &lt; 0.001) than that of OS (11.0 [9.0, 13.5]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>MRgLITT has advantages over OS, including comparable seizure control and adverse event profiles, along with reduced removal ratios, shorter operative time, and shorter hospital stays.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"110-120"},"PeriodicalIF":4.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort","authors":"Shih-Yu Fang,&nbsp;Cheng-Tsung Hsiao,&nbsp;Kang-Yang Jih,&nbsp;Yu-Sheun Tsai,&nbsp;Kuan-Lin Lai,&nbsp;Cheng-Ta Chou,&nbsp;Yi-Chu Liao,&nbsp;Yi-Chung Lee","doi":"10.1002/acn3.52265","DOIUrl":"10.1002/acn3.52265","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the <i>ITM2B</i> gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. This study aims to investigate the role of <i>ITM2B</i> variations in a Taiwanese cohort with unsolved cerebellar ataxia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genetic analysis of <i>ITM2B</i> was performed in 212 unrelated Taiwanese patients with unsolved cerebellar ataxia. Eight short tandem repeat markers flanking <i>ITM2B</i> were genotyped to analyze the associated haplotype. Affected carriers underwent comprehensive clinical evaluations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A heterozygous <i>ITM2B</i> variant, c.800G&gt;T (p.(Ter267LeuextTer11)), was identified in three patients. Haplotype analysis demonstrated a shared haplotype linked to this variant in the three families, suggesting a founder effect. The three probands and additional three affected relatives presented with cerebellar ataxia and unsteady gait with an average onset age of 43.2 years. Most participants had no cognitive impairment at symptom onset but experienced memory decline, oculomotor disturbances, lower limb spasticity, and extensor plantar responses within 2–5 years. Magnetic resonance imaging and spectroscopy revealed progressive extension of white matter hyperintensity over periventricular and subcortical regions, subtle hippocampal atrophy, preserved cerebellar volumes, and decreased N-acetylaspartate/creatine ratio over the vermis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p><i>ITM2B</i> mutations accounted for 1.4% of cerebellar ataxia cases in the Taiwanese cohort, with patients carrying <i>ITM2B</i> c.800G&gt;T descending from a common ancestor. This study underscores the importance of considering <i>ITM2B</i> variations as a potential cause of cerebellar ataxia, even in the absence of dementia at the initial presentation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"158-168"},"PeriodicalIF":4.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral hypoperfusion reduces tau accumulation","authors":"Ghupurjan Gheni,&nbsp;Mitsuru Shinohara,&nbsp;Masami Masuda-Suzukake,&nbsp;Akihiko Shindo,&nbsp;Atsushi Watanabe,&nbsp;Kaori Kawai,&nbsp;Guojun Bu,&nbsp;Hidekazu Tomimoto,&nbsp;Masato Hasegawa,&nbsp;Naoyuki Sato","doi":"10.1002/acn3.52247","DOIUrl":"10.1002/acn3.52247","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Alzheimer's disease (AD) often coexists with cerebrovascular diseases. However, the impact of cerebrovascular diseases such as stroke on AD pathology remains poorly understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study examines the correlation between cerebrovascular diseases and AD pathology. The research was carried out using clinical and neuropathological data collected from the National Alzheimer's Coordinating Center (NACC) database and an animal model in which bilateral common carotid artery stenosis surgery was performed, following the injection of tau seeds into the brains of wild-type mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analysis of the NACC database suggests that clinical stroke history and lacunar infarcts are associated with lower neurofibrillary tangle pathology. An animal model demonstrates that chronic cerebral hypoperfusion reduces tau pathology, which was observed in not only neurons but also astrocytes, microglia, and oligodendrocytes. Furthermore, we found that astrocytes and microglia were activated in response to tau pathology and chronic cerebral hypoperfusion. Additionally, cerebral hypoperfusion increased a lysosomal enzyme, cathepsin D.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These data together indicate that cerebral hypoperfusion reduces tau accumulation likely through an increase in microglial phagocytic activity towards tau and an elevation in degradation through cathepsin D. This study contributes to understanding the relationship between tau pathology and cerebrovascular diseases in older people with multimorbidity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"69-85"},"PeriodicalIF":4.4,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain lesion characteristics in Chinese multiple sclerosis patients: A 7-T MRI cohort study","authors":"Lei Su,&nbsp;Zhe Zhang,&nbsp;Chenyang Gao,&nbsp;Ai Guo,&nbsp;Mengting Zhang,&nbsp;Xiaoyu Shi,&nbsp;Xinyao Liu,&nbsp;Tian Song,&nbsp;Wangshu Xu,&nbsp;Huabing Wang,&nbsp;Joseph Kuchling,&nbsp;Jing Jing,&nbsp;De-Cai Tian,&nbsp;Yaou Liu,&nbsp;Yunyun Duan,&nbsp;Friedemann Paul,&nbsp;Fu-Dong Shi","doi":"10.1002/acn3.52256","DOIUrl":"10.1002/acn3.52256","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Prevalence, susceptibility genes, and clinical and radiological features may differ across different ethnic groups of multiple sclerosis (MS). We aim to characterize brain lesions in Chinese patients with MS by use of 7-T MRI.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>MS participants were enrolled from the ongoing China National Registry of Neuro-Inflammatory Diseases (CNRID) cohort. 7-T MRI of the brain was performed. Each lesion was evaluated according to a standardized procedure. Central vein sign (CVS) and paramagnetic rim lesions were identified. The characteristics of lesions at patient-level and at lesion-level from previous 7-T MRI literature were also summarized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 120 MS patients. Their mean (SD) age was 34.6 (9.4) years. The female-to-male ratio was 1.7:1 and mean disease duration of patients with MS was 5.5 ± 6.1 years. The median EDSS score was 2 (range, 0–8). A total of 8502 lesions were identified with a median lesion count of 45 (IQR, 18–90) (range, 2–370). The median (IQR) percentage for these special locations were as follows: cortical lesions (CLs) 2.7% (0%–5.7%), juxtacortical lesions 16.2% (7.8%–25.7%), periventricular lesions 30.2% (17.2%–38.7%), and infratentorial lesions 5.8% (0.4%–11.9%). CLs occurred in 70 (58%) patients, accounting for only 443 (5%) of the total lesions. Out of the 443 CLs, 309 (69.8%) were leukocortical lesions. CVS appeared in 5392 (63%) lesions from 117 (98%) patients. 1792 (21%) lesions and 104 (87%) patients exhibited a paramagnetic rim.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our study elaborated on the lesion features of Chinese patients with MS by use of 7-T MRI. Lesion burden is heavy in Chinese patients with MS. The median lesion count and proportion of PRL are high. The reported heavy lesion burden calls for ramping up regional and global efforts to care for MS patients. The management and research of Chinese population with MS needs to be further strengthened.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"300-310"},"PeriodicalIF":4.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52256","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of DL-3-N-butylphthalide in the treatment of ischemic poststroke aphasia: A randomized clinical trial","authors":"Jing Tian,&nbsp;Peng Yang,&nbsp;Jianing Yang,&nbsp;Rui Wang,&nbsp;Biyi Zhou,&nbsp;Kun Zhang,&nbsp;Yanying Zhao,&nbsp;Binbin Wang,&nbsp;Lijuan Liu,&nbsp;Ruomeng Chen,&nbsp;Haoran Wu,&nbsp;Ruihan Miao,&nbsp;Li Guo,&nbsp;Xiaoyun Liu","doi":"10.1002/acn3.52238","DOIUrl":"10.1002/acn3.52238","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Poststroke aphasia (PSA) has a high prevalence and requires a long recovery period, severely impairing life and work. Its existing behavioral interventions, principally speech and language therapy, are limited by numerous factors. The aims of this study are to evaluate the efficacy and safety of DL-3-N-butylphthalein (NBP) and explore its mechanism in the treatment of ischemic PSA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients hospitalized in the Second Hospital of Hebei Medical University in China were randomly administered NBP soft capsules or placebo orally for 6 months from July 1, 2021, to February 25, 2023. Language skills were assessed using the Western Aphasia Battery-Aphasia Quotient (WAB-AQ). We collected plasma samples and detected neurotransmitters by liquid chromatography-mass spectrometry.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 118 out of 124 patients were included in the outcome analysis. Compared with the control group, AQ values in the NBP group significantly improved at 6 months (<i>U</i> = 1187.5, <i>p</i> = 0.003). After eliminating baseline interference, NBP treatment was independently associated with the 6-month AQ improvement [mean difference (MD) 0.106, 95% confidence interval (CI) 0.018, 0.195, <i>p</i> = 0.019]. We observed no statistically significant difference between the groups in abnormal liver function at 1 month [relative risk (RR) 1.07, 95% CI 0.89, 1.28] and 6 months [RR 0.99, 95% CI 0.86, 1.42]. Statistically significant differences were observed in tyrosine (<i>p</i> = 0.043) and 5-hydroxytryptophan (<i>p</i> = 0.041) between the two groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>NBP treatment might promote the recovery of WAB-AQ in patients with ischemic PSA by increasing levels of monoamine neurotransmitters.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"11 12","pages":"3300-3309"},"PeriodicalIF":4.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52238","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy","authors":"Jiahui Mai,&nbsp;Jing Duan,&nbsp;Xiaoyu Chen,&nbsp;Liqin Liu,&nbsp;Dachao Liang,&nbsp;Tao Fu,&nbsp;Gang Lu,&nbsp;Wai Yee Chan,&nbsp;Xufeng Luo,&nbsp;Feiqiu Wen,&nbsp;Jianxiang Liao,&nbsp;Zhuo Li,&nbsp;Xinguo Lu","doi":"10.1002/acn3.52245","DOIUrl":"10.1002/acn3.52245","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). We used the optical genome mapping (OGM) technology to detect and analyze uncommon mutations or structural variations (SVs) within the <i>DMD</i> gene, thus contributing to more precise clinical diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We herein included eight patients with dystrophinopathy (six males and two females) in whom pathogenic variants of the <i>DMD</i> gene could not be accurately identified using MLPA and NGS. Clinical data were collected for all patients and genetic testing was performed using OGM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Conventional methods (MLPA and NGS) failed to detect pathogenic mutations in six out of eight individuals (four males and two females). OGM testing uncovered rare mutations in the <i>DMD</i> gene in four patients, including a pericentric inversion in chromosome X (one male), a complex rearrangement (one male), and two X–autosome translocations (two females). No mutations were detected in the remaining two male patients. OGM also accurately mapped balanced X–autosome translocations in female patients, defining chromosomal breakpoints. In the other two male patients in whom MLPA suggested non-contiguous exon duplications or deletions in the <i>DMD</i> gene, OGM characterized one case as a complex rearrangement and the other as a deletion within the <i>DMD</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>OGM is a valuable diagnostic tool for dystrophinopathy patients with negative results from conventional genetic tests. It can effectively elucidate complex SVs and pinpoint breakpoints in X–autosomal translocations in female patients, facilitating prompt and appropriate interventions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"43-55"},"PeriodicalIF":4.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive multicentre retrospective analysis for predicting isocitrate dehydrogenase-mutant lower-grade gliomas","authors":"Dongxu Zhao,&nbsp;Lin Duan,&nbsp;Tareq A. Juratli,&nbsp;Fazheng Shen,&nbsp;Liyun Zhou,&nbsp;Shulin Cui,&nbsp;Hang Zhang,&nbsp;Hang Ren,&nbsp;Luyao Cheng,&nbsp;Hailan Wang,&nbsp;Wenhan Shi,&nbsp;Tianxiao Li,&nbsp;Ming Li","doi":"10.1002/acn3.52251","DOIUrl":"10.1002/acn3.52251","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To differentiate glioma grading and determine isocitrate dehydrogenase (IDH) mutation status, which are crucial for prognosis assessment and treatment planning in glioma patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study included patients diagnosed with adult diffuse glioma from 1 January, 2018 to 31 July, 2023 in two independent institutions. It documented and analysed clinical and radiographic features. A nomogram model was constructed using stepwise regression to predict lower-grade gliomas and IDH mutation status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 383 adult patients with diffuse glioma were included in the study, with Cohort A (297 patients) serving as the training set and Cohort B (86 patients) serving as the validation cohort. Consistent with previous reports, the Hyper fluid-attenuated inversion recovery (FLAIR) rim sign exhibited higher sensitivity in lower-grade gliomas for IDH mutant gliomas compared with the T2-FLAIR mismatch sign. However, the Hyper FLAIR rim sign was also present in Grade 4 gliomas, and thus, the T2-FLAIR mismatch sign exhibited better clinical efficacy in predicting glioma grade and IDH mutation compared with the Hyper FLAIR rim sign in clinical applications. Meanwhile, preoperative magnetic resonance spectroscopy (MRS) indicators, particularly the Cho/Cr ratio, have shown excellent performance in predicting glioma grade and IDH mutation status. The nomogram developed through stepwise regression demonstrated excellent predictive capabilities in distinguishing glioma grade and IDH mutation status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Combining imaging and molecular features, the predictive model established in this study offers a reliable non-invasive tool for predicting glioma grading and IDH mutation status, aiding the clinical decision-making process and improving patient management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"255-266"},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52251","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incremental clinical value of intraplaque neovascularization in predicting recurrent ischemic stroke","authors":"Liuping Cui,&nbsp;Ran Liu,&nbsp;Fubo Zhou,&nbsp;Bing Tian,&nbsp;Ying Chen,&nbsp;Yingqi Xing","doi":"10.1002/acn3.52255","DOIUrl":"10.1002/acn3.52255","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Carotid intraplaque neovascularization (IPN) detected by contrast-enhanced ultrasound (CEUS) is a risk factor for recurrent ischemic stroke. However, it is still unclear whether IPN can be used to accurately identify patients with recurrent ischemic stroke in clinical practice. Herein, we investigated the clinical predictive value of IPN for recurrent ischemic stroke in a real-world setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We enrolled 200 patients with ischemic stroke and atherosclerotic carotid stenosis who were followed up for 2 years. The endpoint was recurrent ischemic stroke. Cox regression and subgroup analyses were employed to assess whether treatment affected the relationship between IPN and recurrent ischemic stroke. The net classification index (NRI) and integrated discriminant improvement index (IDI) were used to validate the additional clinical value of IPN in identifying recurrent ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>During the 2-year follow-up, 36 patients experienced recurrent ischemic stroke. Cox regression analyses showed that IPN (grade 2), hypoechoic plaque, high homocysteine levels, and smoking were independent risk factors for recurrent ischemic stroke. Additional IPN evaluation may increase the NRI (0.512; 95% confidence interval [CI]: 0.083–0.624) and IDI (0.151; 95% CI: 0.010–0.213) for identifying high-risk patients with recurrent ischemic stroke. In addition, in the subgroup undergoing revascularization, the proportion of IPN (grade 2) was significantly higher in patients with recurrent ischemic stroke than in patients with nonrecurrent ischemic stroke (<i>p</i> = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>In clinical settings, IPN, assessed by CEUS, may provide additional clinical value for predicting recurrent ischemic stroke, helping to identify patients with ischemic stroke who require close follow-up.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"291-299"},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52255","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic and oncological insights in ANNA1 autoimmunity: Age stratification and biomarker analysis","authors":"Naveen Kumar Paramasivan,&nbsp;Majed Masoud,&nbsp;Carley Karsten,&nbsp;Anza Zahid,&nbsp;Haidara Kherbek,&nbsp;Anastasia Zekeridou,&nbsp;Sri Raghav Sista,&nbsp;Surendra Dasari,&nbsp;Andrew M. Knight,&nbsp;Georgios Mangioris,&nbsp;John R. Mills,&nbsp;Andrew McKeon,&nbsp;Sean J. Pittock,&nbsp;Divyanshu Dubey","doi":"10.1002/acn3.52254","DOIUrl":"10.1002/acn3.52254","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To describe the phenotypes, oncological associations, biomarker profiles, and outcomes across different age groups in patients with ANNA1 (anti-Hu) autoimmunity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective review of patients with ANNA1-IgG in serum/CSF between January 1, 2001, and December 31,2019 was performed. Patients were classified into three groups based on the age of symptom onset. Phage immunoprecipitation sequencing (PhIP-Seq) and neurofilament light chain (NfL) measurements were done in patient sera/CSF with archived samples.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 122 patients, 81 (66%), 20 (16%), and 21 (17%) patients belonged to older adults, young adults, and pediatric groups, respectively. Lung cancer and neuromuscular presentations were more common in older adults (<i>p</i> &lt; 0.001), while limbic encephalitis and neuroblastoma were more common in pediatric patients (<i>p</i> &lt; 0.005). Most young adults (75%) did not have cancer identified. Proportions of patients with a favorable response to immunotherapy were 20%, 30%, and 52% among older adults, young adults, and pediatric groups, respectively. PhIP-Seq demonstrated significant enrichment for ELAVL4 peptides especially for amino acids 240–289, in the majority of samples evaluated (36/67, 54%). ZIC and SOX2 peptides were significantly enriched in those with central nervous system presentations. Serum NfL levels were elevated in patients with cancer and those with poor long-term outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Young adults with ANNA1 autoimmunity phenotypically resembled older adults but rarely had an underlying cancer. Pediatric patients frequently presented with limbic encephalitis and neuroblastoma and often responded favorably to immunotherapy. Distinct antigenic signatures may underlie differences in clinical presentations. Serum NfL levels may be a biomarker of poor long-term outcomes in ANNA1 autoimmunity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"280-290"},"PeriodicalIF":4.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52254","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}