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What We Should Not Forget about Down Syndrome 我们不应该忘记唐氏综合症
Q4 Medicine Pub Date : 2021-05-01 DOI: 10.3174/ng.2000043
D. C. Fragoso, D. Nunes, A. Maia, L. Garcia, H. Alves, C. J. D. Silva, C. Leite
Down syndrome is the foremost common genetic cause of intellectual disability. The additional copy of chromosome 21 confers potential changes in virtually all organ systems, including the brain, neck structures, and spine. Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome. In particular, the high prevalence of age-related cognitive decline and dementia stands out more clearly in recent decades due to the notable increase in these individuals' survival. Although the early and timely diagnosis of cognitive decline in patients with varying degrees of intellectual disability has not been an easy task from the clinical point of view, anatomic and functional brain studies have shown an essential role because they allow the early recognition of abnormalities that precede the cognitive decline. Furthermore, the similarities and differences in neuropathologic, genetic, and imaging aspects in patients with Down syndrome have allowed extrapolation for a better understanding of the mechanisms linked to Alzheimer disease development.Learning Objective: To review and systematize the distinctive characteristics and abnormalities of the head and neck, vertebral column, and CNS present in Down syndrome
唐氏综合症是智力残疾最常见的遗传原因。21号染色体的额外拷贝赋予了几乎所有器官系统的潜在变化,包括大脑、颈部结构和脊椎。神经放射科医生应该了解唐氏综合征患者的大量影像学表现,以正确识别和诊断与该综合征相关的改变生活的疾病。特别是,近几十年来,由于这些人的生存率显著提高,与年龄相关的认知能力下降和痴呆症的高患病率更加突出。尽管从临床角度来看,对不同程度智力残疾患者的认知能力下降进行早期及时诊断并非易事,但大脑解剖和功能研究已显示出重要作用,因为它们可以早期识别认知能力下降之前的异常。此外,唐氏综合征患者在神经病理学、遗传学和影像学方面的异同使我们能够更好地理解与阿尔茨海默病发展相关的机制。学习目的:回顾和系统化唐氏综合征的头颈部、脊柱和中枢神经系统的独特特征和异常
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引用次数: 0
Anaplastic Lymphoma Kinase‐Positive Inflammatory Myofibroblastic Tumor Mimicking Meningioma: A Case Report 间变性淋巴瘤激酶阳性炎性肌纤维母细胞肿瘤模拟脑膜瘤1例报告
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000037
J. Stone, R. Stonebridge, R. Bhuta, J. Boxerman
A 15-year-old girl presented with intermittent nausea and vomiting, headache, and vision changes. MR imaging of the brain revealed an avidly enhancing infratemporal dural-based mass arising from the tentorium, with hyperintensity on T2WI and transdural extension into the posterior cranial fossa. The well-encapsulated fibrous tumor was resected en bloc after cauterization of its rich tentorial arterial supply. Histologic examination demonstrated pleomorphic myofibroblastic cells admixed with an inflammatory infiltrate. Spindle cells showed strong, diffusely positive immunostaining for anaplastic lymphoma kinase, and genomic sequencing uncovered a tropomyosin 3 gene and anaplastic lymphoma kinase fusion and an activating mutation in the Kirsten rat sarcoma oncogene. A diagnosis of inflammatory myofibroblastic tumor was made. Primary intracranial involvement of inflammatory myofibroblastic tumor is exceptionally rare, and few cases that feature an anaplastic lymphoma kinase translocation have been described. Inflammatory myofibroblastic tumor‐CNS is an important differential diagnosis for dural-based lesions in children and young adults due to its propensity for recurrence and malignant degeneration.
一名15岁女孩以间歇性恶心呕吐、头痛和视力改变表现。脑磁共振成像显示一明显增强的颞下硬脑膜基础肿块,起源于脑幕,T2WI呈高强度,并经硬脑膜延伸至颅后窝。在烧灼其丰富的幕动脉供应后,将包膜良好的纤维性肿瘤整体切除。组织学检查显示多形性肌成纤维细胞并伴有炎性浸润。梭形细胞对间变性淋巴瘤激酶表现出强烈的弥漫阳性免疫染色,基因组测序揭示了原肌球蛋白3基因和间变性淋巴瘤激酶融合以及Kirsten大鼠肉瘤癌基因的激活突变。诊断为炎性肌成纤维细胞瘤。原发累及颅内的炎性肌纤维母细胞瘤是非常罕见的,并且很少有以间变性淋巴瘤激酶易位为特征的病例被描述。炎症性肌纤维母细胞瘤- CNS是儿童和年轻人硬脑膜病变的重要鉴别诊断,因为它有复发和恶性变性的倾向。
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引用次数: 0
Imaging Diagnosis of Lateral Meningocele Syndrome 外侧脑膜膨出综合征的影像学诊断
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000027
Surbhi Raichandani, D. Tassel, Kevin Wong
Lateral meningocele syndrome, also known as Lehman syndrome, is an exceptionally uncommon genetic disorder, which is characterized by specific facial features and multisystem involvement, including skeletal, cardiac, and urogenital anomalies, akin to other connective tissue disorders, but it is set apart by the unique occurrence of multiple lateral meningoceles. Knowledge of the distinctive imaging features can strongly suggest the diagnosis in patients with complex clinical presentations to assist in the guidance of appropriate and timely clinical management.
侧脊膜膨出综合征,也称为雷曼综合征,是一种异常罕见的遗传性疾病,其特征是特定的面部特征和多系统受累,包括骨骼、心脏和泌尿生殖系统异常,类似于其他结缔组织疾病,但它因多发性侧脊膜疝的独特发生而与众不同。对独特影像学特征的了解可以有力地建议对具有复杂临床表现的患者进行诊断,以帮助指导适当和及时的临床管理。
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引用次数: 0
Masses, Malignancy, and Mimics: CT and MR Imaging of the Sinonasal Cavity 肿块、恶性肿瘤和模拟:鼻腔的CT和MR成像
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000030
E. Funk, S. Dorros, A. Deconde, M. A. McDonald
Although sinonasal malignancies are relatively rare entities, the frequency of sinus imaging ensures that most radiologists will encounter an unsuspected sinonasal neoplasm at some point in their career. Given that the initial clinical presentations are often nonspecific and may mimic inflammatory rhinosinusitis, it is essential that the practicing radiologist becomes familiar with the specific CT and MR imaging findings that should raise suspicion for an underlying neoplasm. In the course of this review, we highlight the imaging features of a spectrum of sinonasal neoplasms, both benign and malignant, with emphasis on the distinct and complementary roles of CT and MR imaging in the differentiation from common inflammatory disease. We also highlight key anatomic relationships crucial to identifying routes of disease spread with an eye toward disease staging and surgical management.Learning Objectives: To familiarize the practicing radiologist with the key imaging features that should raise suspicion for an underlying sinonasal malignancy and to understand the complementary roles of CT and MR imaging in evaluating routes of locoregional and perineural disease spread.
尽管鼻窦恶性肿瘤是相对罕见的实体,但鼻窦成像的频率确保了大多数放射科医生在其职业生涯中的某个时刻都会遇到未经怀疑的鼻窦肿瘤。鉴于最初的临床表现通常是非特异性的,可能模拟炎症性鼻窦炎,执业放射科医生必须熟悉特定的CT和MR成像结果,这应该引起对潜在肿瘤的怀疑。在这篇综述中,我们强调了一系列鼻腔肿瘤的影像学特征,包括良性和恶性肿瘤,并强调了CT和MR成像在鉴别常见炎症疾病中的独特和互补作用。我们还强调了关键的解剖关系,这些关系对于确定疾病传播途径至关重要,着眼于疾病分期和手术管理。学习目标:使执业放射科医生熟悉应引起对潜在鼻腔恶性肿瘤怀疑的关键成像特征,并了解CT和MR成像在评估局部和神经系统疾病传播途径中的互补作用。
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引用次数: 0
Prionopathies and Prionlike Protein Aberrations in Neurodegenerative Diseases 神经退行性疾病中的朊病毒病和朊样蛋白畸变
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000035
K. Anderson, W. B. Overcast, J. Brosch, B. Graner, M. Veronesi
Protein misfolding has been an area of intense research and is implicated in a number of neurodegenerative diseases. Key proteins in the brain lose their native ability to fold and instead assume abnormal conformations. Misfolded proteins cluster to form pathologic aggregates, which cause cellular dysfunction, neuronal death, and neurodegeneration. The prionopathies are best known among the neurodegenerative diseases for their ability to misfold, self-propagate, and infect other organisms. There is increasing evidence of a rationale for a prionlike mechanism of spread of other neurodegenerative diseases through a similar seeding mechanism. In this review, we detail the role of a key protein aberration known to the various prion diseases, including sporadic, variant, and iatrogenic Creutzfeldt-Jakob disease; variably protease-sensitive prionopathy; Gerstmann-Straussler-Scheinker disease; fatal familial insomnia; and kuru. We also discuss the clinical presentation, the available, and emerging imaging options for these diseases. In the second part of this review, we delineate how a prionlike seeding process may be driving the progression of other neurodegenerative diseases, including Parkinson disease, Alzheimer disease, and Huntington disease. A discussion of clinical presentation and imaging features of these example diseases follows to make a case for a common approach to developing imaging biomarkers and therapies of these diseases.Learning Objective: Upon completion of this article, one should be able to describe the various types of prion diseases, recognize and identify the common the neuro-imaging findings in prion diseases, describe seeding mechanism of prion disease, list the common amyloid PET tracers used for Alzheimer’s disease, and list common imaging biomarkers in neurodegenerative diseases.
蛋白质错误折叠一直是一个深入研究的领域,与许多神经退行性疾病有关。大脑中的关键蛋白质失去了其固有的折叠能力,而呈现出异常的构象。错误折叠的蛋白质聚集形成病理聚集体,导致细胞功能障碍、神经元死亡和神经变性。朊病毒病在神经退行性疾病中最为人所知的是其错误折叠、自我繁殖和感染其他生物体的能力。有越来越多的证据表明,其他神经退行性疾病通过类似的播种机制传播的朊病毒样机制的基本原理。在这篇综述中,我们详细介绍了在各种朊病毒疾病中已知的关键蛋白畸变的作用,包括散发性、变异型和医源性克雅氏病;可变蛋白酶敏感性朊病;Gerstmann-Straussler-Scheinker疾病;致命性家族性失眠症;和库鲁病。我们还讨论了这些疾病的临床表现、可用的和新兴的影像学选择。在这篇综述的第二部分,我们描述了朊病毒样播种过程如何驱动其他神经退行性疾病的进展,包括帕金森病、阿尔茨海默病和亨廷顿病。下面将讨论这些示例疾病的临床表现和影像学特征,以说明开发这些疾病的影像学生物标志物和治疗方法的共同方法。学习目的:在完成本文学习后,能够描述各种类型的朊病毒疾病,认识和识别朊病毒疾病常见的神经影像学表现,描述朊病毒疾病的发生机制,列出用于阿尔茨海默病的常见淀粉样蛋白PET示踪剂,列出神经退行性疾病常见的成像生物标志物。
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引用次数: 0
Form and Function in Intracranial Neurovascular Stents: A Historical Perspective and State-of-the-Art Clinical Review for the Noninterventionalist 颅内神经血管支架的形式和功能:非介入治疗者的历史观点和最新临床综述
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000058
M. Caton, A. Copelan, K. Narsinh, D. Murph, A. Abla, D. Cooke, S. Hetts, V. Halbach, C. Dowd, R. Higashida, M. Amans
The use of intracranial stents in neurointerventional surgery has been practiced for decades. However, the spectrum of treatable pathology, available devices, and clinical adoption of intracranial stents has exploded in recent years. Diagnostic neuroradiologists play a critical role in the evaluation of these devices after deployment, yet may not be familiar with state-of-the-art intracranial stent devices and indications. This review provides an overview of intracranial stents for cerebrovascular disease, with 3 chief learning objectives: 1) to understand the basic principles of stent design, biomechanics, and deployment, and the resulting influence on cerebrovascular hemodynamics; 2) to be familiar with the spectrum of intracranial pathology amenable to endovascular stent placement; and 3) to recognize the radiographic appearance of successful intracranial stent deployment and intracranial stent‐related complications.Learning Objective: Recognize the key principles of design (form), current indications (function), and potential complications of intracranial stents used in neurointerventional surgery
颅内支架在神经介入手术中的应用已经实践了几十年。然而,近年来,颅内支架的可治疗病理学、可用设备和临床应用范围呈爆炸式增长。诊断神经放射科医生在这些装置部署后的评估中发挥着关键作用,但可能不熟悉最先进的颅内支架装置和适应症。这篇综述概述了颅内支架治疗脑血管疾病,主要学习目标有3个:1)了解支架设计、生物力学和部署的基本原理,以及由此对脑血管血流动力学的影响;2) 熟悉适于血管内支架置入的颅内病理学谱;以及3)识别颅内支架成功部署的放射学表现和颅内支架相关并发症。学习目标:认识神经介入手术中使用颅内支架的设计(形式)、当前适应症(功能)和潜在并发症的关键原则
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引用次数: 0
Nitrous Oxide Abuse‐Induced Subacute Combined Degeneration: Classic Neuroimaging Findings on MRI 一氧化氮滥用诱导的亚急性联合变性:MRI上的经典神经影像学发现
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000063
A. Kirsch, S. M. Allison, S. Kilanowski
Subacute combined degeneration is uncommonly a result of nitrous oxide abuse and presents with high signal in the dorsal columns of the spinal cord on T2-weighted MR imaging. We present a case of subacute combined degeneration in a young patient who abused nitrous oxide, which is an uncommon cause and infrequently seen in this patient population. Symptoms are often reversible with treatment of vitamin B12, and radiologists should be aware of these findings to avoid delay in treatment.
亚急性联合变性是一氧化二氮滥用的罕见结果,在T2加权MR成像中,脊髓背柱出现高信号。我们报告了一例滥用一氧化二氮的年轻患者的亚急性联合变性病例,这是一种罕见的原因,在该患者群体中很少出现。维生素B12治疗后症状通常是可逆的,放射科医生应该意识到这些发现,以避免延误治疗。
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引用次数: 0
Secondary Neurodegeneration: A General Approach to Axonal and Transaxonal Degeneration 继发性神经变性:轴突变性和轴突变性的一般方法
Q4 Medicine Pub Date : 2021-03-01 DOI: 10.3174/ng.2000050
F. B. Assunção, T. Scoppetta, B. S. Yonekura Inada, L.D.A. Martins, E. Narvaez, M. Soldatelli, L. Freitas, V. Marussi, C. S. Campos, L. Amaral
CNS WM tracts are mainly composed of axons, and when these structures undergo apoptosis or lose their integrity, neurodegeneration may occur. Secondary neuronal degeneration can be classified as axonal degeneration and involves only the first neuron in a pathway (Wallerian degeneration of the corticospinal tract being its prototype) or be classified as transaxonal degeneration and involve more than a single neuron in a common pathway, usually a closed neuronal circuit, in specific tracts, such as the dentate-rubro-olivary tract, tracts of the limbic system, corticopontocerebellar tract, cranial nerve tracts, and nigrostriatal pathway. This study aimed to review the anatomy of the main CNS tracts susceptible to secondary neuronal degeneration and to illustrate, through different imaging modalities, the findings associated with this poorly explored and understood process involved in the pathophysiologic substrate of numerous neurologic diseases.Learning Objective: Recognize the anatomy of the main CNS tracts susceptible to secondary neuronal degeneration and identify its main imaging findings in different imaging modalities.
中枢神经系统WM束主要由轴突组成,当这些结构发生凋亡或失去完整性时,可能发生神经退行性变。继发性神经元变性可归类为轴突变性,仅涉及通路中的第一个神经元(皮质脊髓束的Wallerian变性是其原型),也可归类为经轴变性,并涉及特定束中常见通路(通常是闭合神经元回路)中的多个神经元,如齿状红核-橄榄束,边缘系统束、皮质-小脑束、颅神经束和黑质纹状体通路。本研究旨在回顾易受继发性神经元变性影响的主要中枢神经系统束的解剖结构,并通过不同的成像模式说明与许多神经疾病的病理生理基础中这一探索和理解不足的过程相关的发现。学习目的:识别易发生继发性神经元变性的主要中枢神经系统束的解剖结构,并在不同的成像模式下确定其主要成像结果。
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引用次数: 1
Immune Checkpoint Inhibitor: An Emerging Treatment for Head and Neck Cancer. A Primer for the Radiologist 免疫检查点抑制剂:癌症的一种新兴治疗方法。放射科医生入门
Q4 Medicine Pub Date : 2020-10-01 DOI: 10.3174/ng.2000016
T. Sananmuang, S. Prakkamakul, N. Ngampaiboon, S.H. Huang, L. Alshafai, E. Yu
Immune checkpoint inhibitors have revolutionized treatment in many cancers, including head and neck squamous cell carcinoma. The number of drugs recently approved by the FDA and the European Medicine Agency is growing. Pembrolizumab and nivolumab, which are anti-programmed cell death protein 1 monoclonal antibodies, were first adopted in 2016 as the second-line treatment for recurrent or metastatic head and neck squamous cell carcinoma in patients with disease progression after platinum-based chemotherapy. Recently, pembrolizumab with or without platinum-based chemotherapy was approved as the first-line treatment for recurrent or metastatic head and neck squamous cell carcinoma. Imaging studies play an essential role in assessing treatment response and monitoring efficacy and safety during and after treatments. Given the rapid increase in the use of immunotherapy in head and neck squamous cell carcinoma, neuroradiologists need to be familiar with the unique features indicative of treatment response in addition to a broad array of immune-related adverse events to avoid misinterpreting secondary drug-related adverse effects as tumor progression or metastasis. Moreover, emerging imaging techniques, including molecular imaging and radiomics, in an effort to assess or gauge the likelihood of treatment response to immune checkpoint inhibitors, is an ongoing area of active research.Learning Objectives: To recognize the emerging role, basic mechanism, and unique treatment response patterns of immune checkpoint inhibitors for the treatment of head and neck cancer, and to describe imaging findings of immune-related adverse events of immune checkpoint inhibitors.
免疫检查点抑制剂已经彻底改变了许多癌症的治疗方法,包括头颈部鳞状细胞癌。美国食品药品监督管理局和欧洲药品管理局最近批准的药物数量正在增长。Pembrolizumab和nivolumab是一种抗程序性细胞死亡蛋白1单克隆抗体,于2016年首次被用作铂类化疗后疾病进展患者复发或转移性头颈部鳞状细胞癌的二线治疗方法。最近,pembrolizumab联合或不联合铂类化疗被批准为复发或转移性头颈部鳞状细胞癌的一线治疗方法。影像学研究在评估治疗反应、监测治疗期间和治疗后的疗效和安全性方面发挥着重要作用。鉴于免疫疗法在头颈部鳞状细胞癌中的应用迅速增加,除了一系列免疫相关不良事件外,神经放射科医生还需要熟悉指示治疗反应的独特特征,以避免将继发性药物相关不良反应误解为肿瘤进展或转移。此外,新兴的成像技术,包括分子成像和放射组学,旨在评估或评估对免疫检查点抑制剂的治疗反应的可能性,是一个正在进行的积极研究领域。学习目标:认识免疫检查点抑制剂在头颈部癌症治疗中的新作用、基本机制和独特的治疗反应模式,并描述免疫检查点抑制物免疫相关不良事件的影像学表现。
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引用次数: 0
Ambiguous Cerebral Amyloidosis 模糊性脑淀粉样变性
Q4 Medicine Pub Date : 2020-10-01 DOI: 10.3174/ng.1900051
J. Dennison, J. T. Philip, A. Leyva, A. Cibulas, S. Schroff, S.C. Dodson, R. Beegle
Cerebral amyloid, also known as amyloid-related diseases of the CNS, is a heterogenous group of chronic, progressive disorders in which abnormal amyloid protein accumulates in the brain. Subtypes of cerebral amyloid include Alzheimer disease, cerebral amyloid angiopathy, inflammatory cerebral amyloid angiopathy, and amyloidoma. Abnormal amyloid accumulation often leads to adverse events within the CNS. Cerebral amyloid can present with multiple distinct imaging appearances that often overlap with several other CNS pathologies, which ultimately makes an accurate diagnosis a challenge. In this article, we discuss the various imaging patterns seen in cerebral amyloid. In addition, we review the differential diagnoses and highlight the radiologic features that aid in distinction.Learning Objective: Become familiar with the multiple subtypes of cerebral amyloidosis, also known as amyloid-related diseases of the CNS, and their imaging manifestations, and be able to differentiate these subtypes from common mimickers.
大脑淀粉样蛋白,也称为中枢神经系统淀粉样蛋白相关疾病,是一组异质性的慢性进行性疾病,异常淀粉样蛋白在大脑中积聚。脑淀粉样蛋白的亚型包括阿尔茨海默病、脑淀粉样血管病、炎症性脑淀粉样脉管病和淀粉样瘤。淀粉样蛋白的异常积聚通常会导致中枢神经系统内的不良事件。大脑淀粉样蛋白可以表现出多种不同的影像学表现,通常与其他几种中枢神经系统病变重叠,这最终使准确诊断成为一个挑战。在这篇文章中,我们讨论了大脑淀粉样蛋白的各种成像模式。此外,我们回顾了鉴别诊断,并强调了有助于区分的放射学特征。学习目的:熟悉脑淀粉样变性的多种亚型,也称为中枢神经系统淀粉样蛋白相关疾病,及其影像学表现,并能够将这些亚型与常见的拟态者区分开来。
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引用次数: 0
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Neurographics
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