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Wada testing remains an important component of pre-surgical testing to assess the feasibility of temporal lobectomy for patients with intractable epilepsy. In this procedure, an anesthetic is injected into either internal carotid artery while memory and language testing is performed, simulating the effect of temporal lobe resection. The mechanism remains poorly understood because the hippocampal vasculature is predominantly via the posterior circulation. We recorded hippocampal EEG during bilateral methohexital Wada testing in three patients who had previously been implanted with a responsive neurostimulation system (RNS) to determine the effect of the injections on hippocampal activity. In all six injections from three patients, methohexital caused immediate, transient increases in hippocampal spikes. With at least two of these injections, the electrographic changes were consistent with electrographic seizures. In all cases, the epileptiform activity was not apparent on scalp EEG and was without obvious clinical correlate other than the negative findings expected from the anesthetic. The results demonstrate the utility of intracranial EEG during Wada testing and suggest that the elicitation of seizures or continuous spiking might contribute to dysfunction of the hippocampus during the Wada test. We hypothesize that this effect is due to disconnection and disinhibition of medial temporal structures.
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Epilepsia do Lobo Temporal , Eletroencefalografia , Lateralidade Funcional , Hipocampo , Humanos , Metoexital , ConvulsõesRESUMO
Background Dual-energy CT (DECT) shows promising performance in detecting bone marrow edema (BME) associated with vertebral body fractures. However, the optimal technical and image interpretation parameters are not well described. Purpose To conduct a systematic review and meta-analysis to determine the diagnostic performance of DECT in detecting BME associated with vertebral fractures (VFs), using different technical and image interpretation parameters, compared with MRI as the reference standard. Materials and Methods A systematic literature search was performed on July 9, 2020, to identify studies evaluating DECT performance for in vivo detection of vertebral BME. A random-effects model was used to derive estimates of the diagnostic accuracy parameters of DECT. The impact of relevant covariates in technical, image interpretation, and study design parameters on the diagnostic performance of DECT was investigated using subgroup analyses. Results Seventeen studies (with 742 of 2468 vertebrae with BME at MRI) met inclusion criteria. Pooled estimates of sensitivity, specificity, and area under the curve of DECT for vertebral body BME were 89% (95% CI: 84%, 92%), 96% (95% CI: 92%, 98%), and 96% (95% CI: 94%, 97%), respectively. Single-source consecutive scanning showed poor specificity (78%) compared with the dual-source technique (98%, P < .001). Specificity was higher using bone and soft-tissue kernels (98%) compared with using only soft-tissue kernels (90%, P = .001). Qualitative assessment had a better specificity (97%) versus quantitative assessment (90%) of DECT images (P = .01). Experienced readers showed considerably higher specificity (96%) compared with trainees (79%, P = .01). DECT sensitivity improved using a higher difference between low- and high-energy spectra (90% vs 83%, P = .04). Conclusion Given its high specificity, the detection of vertebral bone marrow edema with dual-energy CT (DECT) associated with vertebral fracture may obviate confirmatory MRI in an emergency setting. Technical parameters, such as the dual-source technique, both bone and soft-tissue kernels, and qualitative assessment by experienced readers, can ensure the high specificity of DECT. © RSNA, 2021 Online supplemental material is available for this article.
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Doenças da Medula Óssea/complicações , Doenças da Medula Óssea/diagnóstico por imagem , Edema/diagnóstico por imagem , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Imagem Radiográfica a Partir de Emissão de Duplo Fóton/métodos , Fraturas da Coluna Vertebral/complicações , Tomografia Computadorizada por Raios X/métodos , Medula Óssea/diagnóstico por imagem , Edema/etiologia , Humanos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
BACKGROUND AND PURPOSE: We aim to examine effects of collateral status and post-thrombectomy reperfusion on final infarct distribution and early functional outcome in patients with anterior circulation large vessel occlusion ischemic stroke. METHODS: Patients with large vessel occlusion who underwent endovascular intervention were included in this study. All patients had baseline computed tomography angiography and follow-up magnetic resonance imaging. Collateral status was graded according to the criteria proposed by Miteff et al and reperfusion was assessed using the modified Thrombolysis in Cerebral Infarction (mTICI) system. We applied a multivariate voxel-wise general linear model to correlate the distribution of final infarction with collateral status and degree of reperfusion. Early favorable outcome was defined as a discharge modified Rankin Scale score ≤2. RESULTS: Of the 283 patients included, 129 (46%) had good, 97 (34%) had moderate, and 57 (20%) had poor collateral status. Successful reperfusion (mTICI 2b/3) was achieved in 206 (73%) patients. Poor collateral status was associated with infarction of middle cerebral artery border zones, whereas worse reperfusion (mTICI scores 0-2a) was associated with infarction of middle cerebral artery territory deep white matter tracts and the posterior limb of the internal capsule. In multivariate regression models, both mTICI (P<0.001) and collateral status (P<0.001) were among independent predictors of final infarct volumes. However, mTICI (P<0.001), but not collateral status (P=0.058), predicted favorable outcome at discharge. CONCLUSIONS: In this cohort of patients with large vessel occlusion stroke, both the collateral status and endovascular reperfusion were strongly associated with middle cerebral artery territory final infarct volumes. Our findings suggesting that baseline collateral status predominantly affected middle cerebral artery border zones infarction, whereas higher mTICI preserved deep white matter and internal capsule from infarction; may explain why reperfusion success-but not collateral status-was among the independent predictors of favorable outcome at discharge. Infarction of the lentiform nuclei was observed regardless of collateral status or reperfusion success.
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Arteriopatias Oclusivas/patologia , Arteriopatias Oclusivas/terapia , Infarto Cerebral/patologia , Infarto Cerebral/terapia , Circulação Colateral , Procedimentos Endovasculares/métodos , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Angiografia por Tomografia Computadorizada , Feminino , Humanos , Infarto da Artéria Cerebral Média/patologia , Infarto da Artéria Cerebral Média/terapia , Modelos Lineares , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Reperfusão , Estudos Retrospectivos , Acidente Vascular Cerebral/terapia , Trombectomia , Resultado do Tratamento , Substância Branca/patologiaRESUMO
Vertebrobasilar dolichoectasia (VBD) is characterized by ectasia, elongation, and tortuosity of the vertebrobasilar arteries, with a high degree of variability in clinical presentation. The disease origin is believed to involve degeneration of the internal elastic lamina, thinning of the media secondary to reticular fiber deficiency, and smooth muscle atrophy. The prevalence of VBD is variable, ranging from 0.05% to 18%. Most patients with VBD are asymptomatic and their VBD is detected incidentally; however, it is important to recognize that the presence of symptoms, which can lead to clinically significant morbidity and sometimes mortality, may influence clinical management. The most important clinical presentations of VBD are vascular events, such as ischemic stroke and catastrophic intracranial hemorrhage, or progressive compressive symptoms related to compression of adjacent structures, including the cranial nerves, brainstem, or third ventricle, causing hydrocephalus. The imaging diagnostic criteria for computed tomography and magnetic resonance (MR) imaging include three quantitative measures of basilar artery morphology: laterality score, height of bifurcation, and basilar artery diameter. The authors review the relevant anatomy and disease origin of VBD; pertinent imaging findings, including intraluminal thrombus and relation to the cranial nerves; and imaging pitfalls, such as the hyperintense vessel sign on MR images and artifacts related to slow flow in the dolichoectatic vessel. In addition, clinical manifestations, the role of radiology in diagnosis and management of this condition, and available management options are reviewed. (©)RSNA, 2016.
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Imagem Multimodal , Síndromes de Compressão Nervosa/diagnóstico por imagem , Insuficiência Vertebrobasilar/diagnóstico por imagem , Nervos Cranianos/patologia , Humanos , Síndromes de Compressão Nervosa/patologia , Insuficiência Vertebrobasilar/patologiaRESUMO
The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.
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Encefalopatias/genética , Encéfalo/anormalidades , Análise Mutacional de DNA/métodos , Proteínas do Tecido Nervoso/genética , Animais , Sequência de Bases , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Encefalopatias/patologia , Proteínas de Ciclo Celular , Feminino , Genes Recessivos , Humanos , Masculino , Camundongos , Microcefalia/genética , Microcefalia/patologia , Dados de Sequência Molecular , Mutação , Proteínas do Tecido Nervoso/metabolismo , LinhagemRESUMO
Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three siblings from a consanguineous union with a previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. Through homozygosity mapping of the affected individuals followed by whole-exome sequencing of the index case, we identified a previously undescribed homozygous missense mutation within the ubiquitin binding domain of UCHL1 (UCHL1(GLU7ALA)), shared by all affected subjects. As demonstrated by isothermal titration calorimetry, purified UCHL1(GLU7ALA), compared with WT, exhibited at least sevenfold reduced affinity for ubiquitin. In vitro, the mutation led to a near complete loss of UCHL1 hydrolase activity. The GLU7ALA variant is predicted to interfere with the substrate binding by restricting the proper positioning of the substrate for tunneling underneath the cross-over loop spanning the catalytic cleft of UCHL1. This interference with substrate binding, combined with near complete loss of hydrolase activity, resulted in a >100-fold reduction in the efficiency of UCHL1(GLU7ALA) relative to WT. These findings demonstrate a broad requirement of UCHL1 in the maintenance of the nervous system.
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Genes Recessivos/genética , Degeneração Neural/enzimologia , Degeneração Neural/patologia , Neurônios/enzimologia , Neurônios/patologia , Ubiquitina Tiolesterase/genética , Adulto , Idade de Início , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Exoma/genética , Feminino , Homozigoto , Humanos , Hidrólise , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Mutação de Sentido Incorreto/genética , Linhagem , Ligação Proteica , Análise de Sequência de DNA , Especificidade por Substrato , Síndrome , Termodinâmica , Ubiquitina/metabolismo , Ubiquitina Tiolesterase/química , Ubiquitina Tiolesterase/metabolismoRESUMO
In the fall of 2021, several experts in this space delivered a Webinar hosted by the American Society of Neuroradiology (ASNR) Diversity and Inclusion Committee, focused on expanding the understanding of bias in artificial intelligence, with a health equity lens, and provided key concepts for neuroradiologists to approach the evaluation of these tools. In this perspective, we distill key parts of this discussion, including understanding why this topic is important to neuroradiologists and lending insight on how neuroradiologists can develop a framework to assess health equity-related bias in artificial intelligence tools. In addition, we provide examples of clinical workflow implementation of these tools so that we can begin to see how artificial intelligence tools will impact discourse on equitable radiologic care. As continuous learners, we must be engaged in new and rapidly evolving technologies that emerge in our field. The Diversity and Inclusion Committee of the ASNR has addressed this subject matter through its programming content revolving around health equity in neuroradiologic advances.
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Inteligência Artificial , Radiologia , Humanos , Radiologistas , Fluxo de TrabalhoRESUMO
Transcranial Doppler ultrasonography (US) is a noninvasive, portable technique for evaluating the intracranial vasculature. It has found its most useful clinical application in the detection of vasospasm involving the cerebral vessels after subarachnoid hemorrhage due to aneurysm rupture. The technique has become an integral part of monitoring and managing patients with subarachnoid hemorrhage in the neurologic intensive care unit. In addition, it has proved useful for evaluating the intracranial vasculature in patients with sickle cell disease, stroke, or brain death. Transcranial US originated as a "blind" nonimaging study in which pulsed Doppler technology was used. Identification of the major intracranial vessels and evaluation of those vessels for vasospasm relied on spectral waveforms obtained in each vessel and was based on the depth of the vessel from the skull, the direction of blood flow, and the orientation of the transducer. Recent advances in US technology allow the use of gray-scale, spectral Doppler, and color Doppler flow imaging to directly visualize intracranial vessels, thereby simplifying flow velocity measurements and enhancing their accuracy for vasospasm detection. In particular, measurements of peak systolic velocity and mean flow velocity and calculation of the Lindegaard ratio facilitate the identification of vessels that may be in vasospasm and help differentiate vasospasm from physiologic conditions such as hyperemia and autoregulation. Thus, gray-scale and color Doppler flow imaging offer many advantages over the original pulsed Doppler technique for evaluating the intracranial vasculature.
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Encefalopatias/diagnóstico por imagem , Circulação Cerebrovascular , Ultrassonografia Doppler Transcraniana/tendências , Velocidade do Fluxo Sanguíneo , Diagnóstico Diferencial , HumanosRESUMO
In recent years, the number of RSNA female gold medal recipients has increased. Also recently, the importance of diversity, equity, and inclusion (DEI) in radiology beyond gender has received greater attention. The ACR Pipeline Initiative for the Enrichment of Radiology (PIER) program "began through the Commission for Women and Diversity in hopes of giving underrepresented minorities (URMs) and women an opportunity to explore the radiology specialty and engage in research."1 Consistent with this mission and the mission of Clinical Imaging to "advance knowledge and positively impact patient care and the profession of radiology,"2 the journal is pleased to announce a forthcoming initiative in which PIER program medical students will be paired with senior faculty members and given the opportunity to write a first-authorship publication about the legacies of RSNA Female Gold Medal Recipients. With this form of intergenerational mentorship, scholars will gain a new perspective and guidance as they navigate their early career.
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Distinções e Prêmios , Radiologia , Humanos , Feminino , Mentores , Grupos Minoritários , Mobilidade OcupacionalRESUMO
The value of artificial intelligence (AI) in healthcare has become evident, especially in the field of medical imaging. The accelerated pace and acuity of care in the Emergency Department (ED) has made it a popular target for artificial intelligence-driven solutions. Software that helps better detect, report, and appropriately guide management can ensure high quality patient care while enabling emergency radiologists to better meet the demands of quick turnaround times. Beyond diagnostic applications, AI-based algorithms also have the potential to optimize other important steps within the ED imaging workflow. This review will highlight the different types of AI-based applications currently available for use in the ED, as well as the challenges and opportunities associated with their implementation.
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Inteligência Artificial , Radiologia , Algoritmos , Humanos , Radiologistas , Radiologia/métodos , Fluxo de TrabalhoRESUMO
Paravertebral pseudoaneurysms are infrequent following vertebral augmentation but can be difficult to manage due to their proximity to the arterial supply of the spinal cord. Here, we present two distinct manifestations of this complication with associated anatomy and management. In the first, a pseudoaneurysm developed following radiofrequency ablation and kyphoplasty at the L2 and L4 levels. Direct puncture embolization initially failed to close the pseudoaneurysm, but stasis was ultimately achieved via trans-arterial embolization. In the second, vertebral augmentation at the T9 and T11-L3 levels was complicated by formation of a pseudoaneurysm fed by a segmental artery and a long paravertebral anastomotic vein. Due to the patient's poor medical status, intervention was not performed. Understanding vertebral arterial anatomy is crucial for preventing and treating vascular injury in vertebral augmentation.
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Falso Aneurisma , Fraturas por Compressão , Cifoplastia , Fraturas da Coluna Vertebral , Vertebroplastia , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/etiologia , Falso Aneurisma/terapia , Fraturas por Compressão/complicações , Fraturas por Compressão/cirurgia , Humanos , Cifoplastia/efeitos adversos , Vértebras Lombares/cirurgia , Resultado do Tratamento , Vertebroplastia/efeitos adversosRESUMO
Glioma and brain metastasis can be difficult to distinguish on conventional magnetic resonance imaging (MRI) due to the similarity of imaging features in specific clinical circumstances. Multiple studies have investigated the use of machine learning (ML) models for non-invasive differentiation of glioma from brain metastasis. Many of the studies report promising classification results, however, to date, none have been implemented into clinical practice. After a screening of 12,470 studies, we included 29 eligible studies in our systematic review. From each study, we aggregated data on model design, development, and best classifiers, as well as quality of reporting according to the TRIPOD statement. In a subset of eligible studies, we conducted a meta-analysis of the reported AUC. It was found that data predominantly originated from single-center institutions (n = 25/29) and only two studies performed external validation. The median TRIPOD adherence was 0.48, indicating insufficient quality of reporting among surveyed studies. Our findings illustrate that despite promising classification results, reliable model assessment is limited by poor reporting of study design and lack of algorithm validation and generalizability. Therefore, adherence to quality guidelines and validation on outside datasets is critical for the clinical translation of ML for the differentiation of glioma and brain metastasis.
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Background: While there are innumerable machine learning (ML) research algorithms used for segmentation of gliomas, there is yet to be a US FDA cleared product. The aim of this study is to explore the systemic limitations of research algorithms that have prevented translation from concept to product by a review of the current research literature. Methods: We performed a systematic literature review on 4 databases. Of 11 727 articles, 58 articles met the inclusion criteria and were used for data extraction and screening using TRIPOD. Results: We found that while many articles were published on ML-based glioma segmentation and report high accuracy results, there were substantial limitations in the methods and results portions of the papers that result in difficulty reproducing the methods and translation into clinical practice. Conclusions: In addition, we identified that more than a third of the articles used the same publicly available BRaTS and TCIA datasets and are responsible for the majority of patient data on which ML algorithms were trained, which leads to limited generalizability and potential for overfitting and bias.
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Ocular neoplasms, both primary and metastatic, may present with visual disturbance or vision loss and often are asymptomatic. Clinical ophthalmologic examination may demonstrate leukocoria, abnormal pupillary light reflex, or a mass lesion with or without retinal detachment or hemorrhage. Retinoblastoma in children and uveal melanoma and ocular metastases in adults are the most important ocular malignant neoplasms referred for imaging to aid with diagnosis and staging. Familiarity with their common imaging appearances, the common patterns of spread, and the diagnostic findings of greatest concern to the ocular oncologist will enhance accuracy of imaging interpretation. Clinical ophthalmologic examination and imaging using B-scan ultrasound, A-scan ultrasound, fluorescein angiography, computed tomography and magnetic resonance imaging have complementary roles in ocular tumor staging and treatment assessment.
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Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/patologia , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Criança , Meios de Contraste , Diagnóstico Diferencial , Olho/diagnóstico por imagem , Olho/patologia , Neoplasias Oculares/secundário , Angiofluoresceinografia/métodos , Humanos , Melanoma/diagnóstico por imagem , Melanoma/patologia , Estadiamento de Neoplasias , Intensificação de Imagem Radiográfica/métodos , Neoplasias da Retina/diagnóstico por imagem , Neoplasias da Retina/patologia , Retinoblastoma/diagnóstico por imagem , Retinoblastoma/patologia , Ultrassonografia , Neoplasias Uveais/diagnóstico por imagem , Neoplasias Uveais/patologiaRESUMO
Infection, inflammation, and systemic diseases affecting the globe encompass a broad range of pathologies which may ultimately lead to progressive vision loss. Clinical symptomatology varies from the inexorably silent progressive visual loss to an acute presentation of ocular pain and/or red eye. Most are diagnosed by clinical ophthalmologic examination with selective use of ultrasound, computed tomography, and magnetic resonance imaging for confirmation of the diagnosis, assessment of disease extent, and signs of associated systemic disease. Knowledge of the differential diagnoses of vision loss, ocular pain, and redness makes imaging analysis of this diverse group of processes more precise.
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Oftalmopatias/diagnóstico por imagem , Oftalmopatias/patologia , Inflamação/diagnóstico por imagem , Inflamação/patologia , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Meios de Contraste , Diagnóstico Diferencial , Olho/diagnóstico por imagem , Olho/patologia , Oftalmopatias/complicações , Infecções Oculares/diagnóstico por imagem , Infecções Oculares/patologia , Humanos , Infecções/complicações , Infecções/diagnóstico , Inflamação/complicações , Intensificação de Imagem Radiográfica/métodosRESUMO
Anterior surgical approaches to the cervical spine have allowed for treatment of common and complex pathologies with excellent outcomes. During the approach, complications can result from injury to the surrounding structures. The transverse processes usually protect the vertebral artery (VA) as it enters at C6 and courses cranially through the transverse foramina to C2 (referred to as the V2 segment). This is a case report of a patient who presented with myeloradiculopathy attributed to a C4-C5 disc herniation, severe canal stenosis, and marked bilateral neural foraminal stenosis. Preoperative imaging showed the right VA entering the C4 transverse foramen. This anatomic variant on a routine MRI led to further imaging and precautions when performing an uneventful anterior cervical discectomy and fusion (ACDF) at C4-C5. A high VA entry point into the transverse foramen above C6 could increase the risk of iatrogenic vascular injury in anterior approaches to the cervical spine. Rarely reported, the currently presented case describes a patient with a C4 right VA entry variant and highlights the importance of proper surgical planning.
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OBJECTIVE: Using a number of interesting cases, we illustrate how attention to vascular anatomic features and blood flow patterns can facilitate the diagnosis of an orbital lesion. True vascular lesions can be differentiated from nonvascular mimics, and normal variants of the orbital blood flow pattern can be differentiated from pathologic alterations. CONCLUSION: Accuracy of radiologic diagnosis can be improved by an understanding of orbital vascular anatomy and blood flow patterns and with optimal use of imaging techniques.
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Doenças Orbitárias/diagnóstico , Doenças Orbitárias/etiologia , Adulto , Idoso , Angiografia , Meios de Contraste , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Órbita/irrigação sanguínea , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: Cerebral venous thrombosis is often associated with nonspecific clinical complaints. In addition, the imaging findings are often subtle. Underdiagnosis or misdiagnosis of cerebral venous thrombosis can lead to severe consequences, including hemorrhagic infarction and death. CONCLUSION: This article reviews the radiologic findings and diagnostic pitfalls of cerebral venous thrombosis. After completing this article, the readers should have an improved ability to diagnose cerebral venous thrombosis accurately, using the optimal imaging tools to achieve this goal.
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Trombose Intracraniana/diagnóstico por imagem , Trombose Venosa/diagnóstico por imagem , Adulto , Criança , Meios de Contraste , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Flebografia , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios XAssuntos
Radiologia , Estudantes de Medicina , Currículo , Humanos , Radiologia/educação , EstudantesRESUMO
BACKGROUND AND PURPOSE: Both environmental and genetic factors contribute to the formation, growth, and rupture of intracranial aneurysms (IAs). To search for IA susceptibility genes, we took an outlier approach, using parametric genome-wide linkage analysis in extended IA kindreds in which IA is inherited as a simple Mendelian trait. We hereby present the molecular genetic analysis of 2 such families. METHODS: For genome-wide linkage analysis, we used a 2-stage approach. First, using gene chips in affected-only analysis, we identified genomic regions that provide maximum theoretical logarithm of odds (lod) scores. Next, to confirm or exclude these candidate loci, we genotyped all available family members, both affected and unaffected, using polymorphic microsatellite markers located within these regions. RESULTS: We obtained significant lod scores of 4.3 and 3.00 for linkage to chromosomes 11q24-25 and 14q23-31, respectively. CONCLUSIONS: Molecular genetic analysis of 2 large IA kindreds confirms linkage to chromosome 11q and 14q, which were suggested to contain IA susceptibility genes in a previous study of Japanese sib pairs. Independent identification of these 2 loci strongly suggests that IA susceptibility genes lie within these regions. While demonstrating the genetic heterogeneity of IA, these results are also an important step toward cloning IA genes and ultimately understanding its pathophysiology.