Clinical Neuropathology最新文献_第10页

Amelanotic melanocytoma of the cervicomedullary junction. 颈髓交界处无色素黑素细胞瘤。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301411

Bradley Chaharyn, Stephen Yip, John A Maguire

引用次数: 0

Clinical Neuropathology 1-2022. 临床神经病理学1-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-12-07 DOI: 10.5414/NPP41001

I. Fischer, J. Hainfellner

引用次数: 0

Fatal toxic leukoencephalopathy and bilateral basal ganglia necrosis associated with inhaled heroin and cocaine use: A case report. 致死性中毒性脑白质病和双侧基底神经节坏死与吸入海洛因和可卡因有关:1例报告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301401

Mayen Briggs, Kieren Allinson

引用次数: 0

A metastasis of a clear cell renal cell carcinoma in a spinal hemangioblastoma in the context of von Hippel-Lindau syndrome. von Hippel-Lindau综合征脊柱血管母细胞瘤中透明细胞肾细胞癌的转移。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301367

Suzanne Tran, Samiya Abi Jaoude, Stéphane Richard, Franck Bielle

引用次数: 0

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301377

Yuanfeng Miao, Meng Yu, Lingchao Meng, Wei Zhang, He Lv, Zhaoxia Wang, Yun Yuan

{"title":"PLEKHG5-related autosomal recessive lower motor neuron disease with dysmyelination in peripheral nerves.","authors":"Yuanfeng Miao, Meng Yu, Lingchao Meng, Wei Zhang, He Lv, Zhaoxia Wang, Yun Yuan","doi":"10.5414/NP301377","DOIUrl":"https://doi.org/10.5414/NP301377","url":null,"abstract":"Objective: Pleckstrin homology domain-containing family G member 5 (PLEKHG5) is a nuclear factor-κ-B-activator gene that predominantly expresses in the neurons and Schwann cells of the peripheral nervous system. Variations in the PLEKHG5 have shown an intermediate form of autosomal recessive Charcot-Marie-Tooth disease and lower motor neuron disease in childhood.Materials and methods: This study investigated clinically, electrophysiologically, genetically, and pathologically a young girl with lower motor neuron disease who had weakness and wasting of all limbs starting in early childhood.Results: Next-generation sequencing found a novel compound heterozygous missense variation c.2038-1G>A and c.1219G>T of PLEKHG5 gene. Electromyography revealed a neurogenic pattern, and nerve conduction study indicated subclinical sensory neuropathy. Sural biopsy showed hypomyelination, hypermyelination, and infolding myelin membranes coiled into the myelinated axon.Conclusion: This study identifies, pathologically, novel compound heterozygous mutations and phenotype in PLEKHG5-related lower motor neuron disease and dysmyelination in a patient with PLEKHG5 mutation.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39163419","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: 1

Muscular pathological features in patients with myasthenia gravis. 重症肌无力患者的肌肉病理特征。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301382

Lingya Qiao, Yutong Zhang, Rui Ban, Ying Lin, Chuanqiang Pu, Qiang Shi

{"title":"Muscular pathological features in patients with myasthenia gravis.","authors":"Lingya Qiao, Yutong Zhang, Rui Ban, Ying Lin, Chuanqiang Pu, Qiang Shi","doi":"10.5414/NP301382","DOIUrl":"https://doi.org/10.5414/NP301382","url":null,"abstract":"Objective: To analyze muscle histopathology of myasthenia gravis (MG) patients and further explore the underlying mechanism comparing with previous literature.Materials and methods: We analyzed the clinicopathological features of 8 MG patients who had muscle biopsy examinations.Results: Eight patients with a diagnosis of MG were retrospectively recruited from the Chinese PLA General Hospital. One patient had positive anti-MuSK antibodies, 5 patients had positive anti-AChR antibodies (1 of whom had additional positive anti-Titin antibodies), and 2 patients were seronegative. Seronegative-MG presented normal muscle histology, occasionally with lipid deposition. Small angular atrophy (mainly in type II fibers) and necrosis in H & E stain were found in AChR-MG, furthermore, patterns of polymyositis (PM) could be found in AChR-MG with anti-Titin antibodies. Mitochondrial abnormalities were found only in MuSK-MG.Conclusion: Muscle histological abnormalities mimicking myopathy may be found in MG patients. Patients with different antibodies present with different muscle histopathology. PM pattern pathology is a special pattern of muscle histology in MG that should not be misdiagnosed. Our study has extended the muscle pathological features of MG in addition to deepening the understanding of MG.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39164237","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: 1

Brain tumor biomarkers for research, clinics, and registries - The 2021 Brain Tumor Epidemiology Consortium meeting report. 用于研究、临床和登记的脑肿瘤生物标记物 - 2021 年脑肿瘤流行病学联合会会议报告。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301437

Kimberly J Johnson, Judith Schwartzbaum, Carol Kruchko, Luc Bauchet, Quinn Ostrom, Michael E Scheurer, Johannes A Hainfellner, Helle Broholm

引用次数: 0

ALK-1-negative anaplastic large-cell lymphoma presenting as a dura-based mass in an infant. 婴儿alk -1阴性间变性大细胞淋巴瘤表现为硬脑膜肿块。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301395

Nishtha Ahuja, Rahul Sharma, Kirti Gupta, Karalanglin Tiewsoh, Pravin Salunke, Chandrashekhar Gendle, Richa Jain, Amita Trehan

引用次数: 0

Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies. -和-肌糖病变的肌肉炎症模式。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301393

Chiara Panicucci, Serena Baratto, Lizzia Raffaghello, Paola Tonin, Adele D'Amico, Giorgio Tasca, Monica Traverso, Chiara Fiorillo, Carlo Minetti, Stefano Carlo Previtali, Elena Pegoraro, Claudio Bruno

{"title":"Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.","authors":"Chiara Panicucci, Serena Baratto, Lizzia Raffaghello, Paola Tonin, Adele D'Amico, Giorgio Tasca, Monica Traverso, Chiara Fiorillo, Carlo Minetti, Stefano Carlo Previtali, Elena Pegoraro, Claudio Bruno","doi":"10.5414/NP301393","DOIUrl":"https://doi.org/10.5414/NP301393","url":null,"abstract":"Aim: Since the immune system plays a role in the pathogenesis of several muscular dystrophies, we aim to characterize several muscular inflammatory features in α- (LGMD R3) and γ-sarcoglycanopathies (LGMD R5).Materials and methods: We explored the expression of major histocompatibility complex class I molecules (MHCI), and we analyzed the composition of the immune infiltrates in muscle biopsies from 10 patients with LGMD R3 and 8 patients with LGMD R5, comparing the results to Duchenne muscular dystrophy patients (DMD).Results: A consistent involvement of the immune response was observed in sarcoglycanopathies, although it was less evident than in DMD. LGMD R3-R5 and DMD shared an abnormal expression of MHCI, and the composition of the muscular immune cell infiltrate was comparable.Conclusion: These findings might serve as a rationale to fine-tune a disease-specific immunomodulatory regimen, particularly relevant in view of the rapid development of gene therapy for sarcoglycanopathies.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39201108","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: 3

Correlation of serum ferritin levels with neurological function-related indices and cognitive dysfunction in patients with cerebral hemorrhage. 脑出血患者血清铁蛋白水平与神经功能相关指标及认知功能障碍的相关性。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-11-01 DOI: 10.5414/NP301368

Tian-Ye Lan, Da-Yong Cui, Ting-Ting Liu, Jian-Yu Pan, Xin Wang

{"title":"Correlation of serum ferritin levels with neurological function-related indices and cognitive dysfunction in patients with cerebral hemorrhage.","authors":"Tian-Ye Lan, Da-Yong Cui, Ting-Ting Liu, Jian-Yu Pan, Xin Wang","doi":"10.5414/NP301368","DOIUrl":"https://doi.org/10.5414/NP301368","url":null,"abstract":"Aims: The purpose of this study was to explore the correlation of serum ferritin (FS) levels with neurological function-related indices, such as neuron-specific enolase (NSE) and S100β protein levels, and cognitive dysfunction in patients with cerebral hemorrhage.Materials and methods: Patients with acute non-traumatic cerebral hemorrhage (cerebrovascular disease (VD), n = 128) and healthy controls (CON, n = 128) were included. FS, NSE, and S100β levels were measured using ELISA. Cognitive functions were evaluated using the Montreal Cognitive Assessment (MoCA) and Mini-Mental State Examination (MMSE). The receiver operating characteristic (ROC) curve was used to assess the ability of SE, NSE, and serum S100β to predict the diagnosis of cognitive dysfunction in patients with cerebral hemorrhage. Multivariate logistic regression analysis was used to assess the risk factors of cognitive impairment in patients with cerebral hemorrhage.Results: Cognitive impairment in patients with VD was closely related to the increased levels of SE, NSE, and S100β. There was a strong correlation between MoCA and MMSE scores and the levels of FS, NSE, and S100β. The independent risk factors leading to cognitive impairment in cerebral hemorrhage mainly include family history of cerebrovascular disease, body mass index, hypertension, smoking frequency, and elevated levels of low-density lipoproteins, NSE, FS, and S100β.Conclusion: NSE, FS, and S100β can be used as important markers for the diagnosis of cognitive impairment in patients with cerebral hemorrhage.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39269011","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: 2