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BACKGROUND: RASopathies are a group of disorders characterized by pathogenic mutations in the Ras/mitogen-activated protein kinase (Ras/MAPK) signaling pathway. Distinct pathogenic variants in genes encoding proteins in the Ras/MAPK pathway cause Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), which are associated with increased risk for autism spectrum disorder and attention-deficit/hyperactivity disorder. METHODS: This study examined the effect of RASopathies (NS and NF1) on human neuroanatomy, specifically on surface area (SA), cortical thickness (CT), and subcortical volumes. Using vertex-based analysis for cortical measures and Desikan region of interest parcellation for subcortical volumes, we compared structural T1-weighted images of children with RASopathies (n = 91, mean age = 8.81 years, SD = 2.12) to those of sex- and age-matched typically developing children (n = 74, mean age = 9.07 years, SD = 1.77). RESULTS: Compared with typically developing children, RASopathies had convergent effects on SA and CT, exhibiting increased SA in the precentral gyrus, decreased SA in occipital regions, and thinner CT in the precentral gyrus. RASopathies exhibited divergent effects on subcortical volumes, with syndrome-specific influences from NS and NF1. Overall, children with NS showed decreased volumes in striatal and thalamic structures, and children with NF1 displayed increased volumes in the hippocampus, amygdala, and thalamus. CONCLUSIONS: Our study reveals the converging and diverging neuroanatomical effects of RASopathies on human neurodevelopment. The convergence of cortical effects on SA and CT indicates a shared influence of Ras/MAPK hyperactivation on the human brain. Therefore, considering these measures as objective outcome indicators for targeted treatments is imperative.
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Accurate differentiation of benign and malignant cervical lymph nodes is important for prognosis and treatment planning in patients with head and neck squamous cell carcinoma. We evaluated the diagnostic performance of magnetic resonance image (MRI) texture analysis and traditional 18F-deoxyglucose positron emission tomography (FDG-PET) features. This retrospective study included 21 patients with head and neck squamous cell carcinoma. We used texture analysis of MRI and FDG-PET features to evaluate 109 histologically confirmed cervical lymph nodes (41 metastatic, 68 benign). Predictive models were evaluated using area under the curve (AUC). Significant differences were observed between benign and malignant cervical lymph nodes for 36 of 41 texture features (p < 0.05). A combination of 22 MRI texture features discriminated benign and malignant nodal disease with AUC, sensitivity, and specificity of 0.952, 92.7%, and 86.7%, which was comparable to maximum short-axis diameter, lymph node morphology, and maximum standard uptake value (SUVmax). The addition of MRI texture features to traditional FDG-PET features differentiated these groups with the greatest AUC, sensitivity, and specificity (0.989, 97.5%, and 94.1%). The addition of the MRI texture feature to lymph node morphology improved nodal assessment specificity from 70.6% to 88.2% among FDG-PET indeterminate lymph nodes. Texture features are useful for differentiating benign and malignant cervical lymph nodes in patients with head and neck squamous cell carcinoma. Lymph node morphology and SUVmax remain accurate tools. Specificity is improved by the addition of MRI texture features among FDG-PET indeterminate lymph nodes. This approach is useful for differentiating benign and malignant cervical lymph nodes.
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The spinal cord is an elegant structure that serves as a conduit for the transfer of information between the brain and the peripheral nervous system. To enable the reader to understand its complex microstructural anatomy, we have created a detailed yet approachable anatomic reference for clinicians. We review gross and structural features of the spinal cord, its coverings, and nerves while also discussing spinal cord development, microscopic organization, and common anatomic variants. We detail how this anatomy appears on current neuroimaging techniques, with special attention to MR imaging.
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Imageamento por Ressonância Magnética , Medula Espinal , Humanos , Medula Espinal/diagnóstico por imagemRESUMO
BACKGROUND: Moya Moya disease (MMD) and Moya Moya syndrome (MMS) are cerebrovascular disorders, which affect the internal carotid arteries (ICAs). Diagnosis and surveillance of MMD/MMS in children mostly rely on qualitative evaluation of vascular imaging, especially MR angiography (MRA). OBJECTIVE: To quantitatively characterize arterial differences in pediatric patients with MMD/MMS compared with normal controls. METHODS: MRA data sets from 17 presurgery MMD/MMS (10M/7F, mean age = 10.0 years) patients were retrospectively collected and compared with MRA data sets of 98 children with normal vessel morphology (49 male patients; mean age = 10.6 years). Using a level set segmentation method with anisotropic energy weights, the cerebral arteries were automatically extracted and used to compute the radius of the ICA, middle cerebral artery (MCA), anterior cerebral artery (ACA), posterior cerebral artery (PCA), and basilar artery (BA). Moreover, the density and the average radius of all arteries in the MCA, ACA, and PCA flow territories were quantified. RESULTS: Statistical analysis revealed significant differences comparing children with MMD/MMS and those with normal vasculature ( P < .001), whereas post hoc analyses identified significantly smaller radii of the ICA, MCA-M1, MCA-M2, and ACA ( P < .001) in the MMD/MMS group. No significant differences were found for the radii of the PCA and BA or any artery density and average artery radius measurement in the flow territories ( P > .05). CONCLUSION: His study describes the results of an automatic approach for quantitative characterization of the cerebrovascular system in patients with MMD/MMS with promising preliminary results for quantitative surveillance in pediatric MMD/MMS management.
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Doença de Moyamoya , Artérias Cerebrais , Criança , Humanos , Angiografia por Ressonância Magnética , Masculino , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/cirurgia , Estudos RetrospectivosRESUMO
The medial temporal lobe (MTL) is a complex anatomic region encompassing the hippocampal formation, parahippocampal region, and amygdaloid complex. To enable the reader to understand the well-studied regional anatomic relationships and cytoarchitecture that form the basis of functional connectivity, the authors have created a detailed yet approachable anatomic reference for clinicians and scientists, with special attention to MR imaging. They have focused primarily on the hippocampal formation, discussing its gross structural features, anatomic relationships, and subfield anatomy and further discuss hippocampal terminology and development, hippocampal connectivity, normal anatomic variants, clinically relevant disease processes, and automated hippocampal segmentation software.
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Hipocampo , Lobo Temporal , Tonsila do Cerebelo , Hipocampo/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Lobo Temporal/diagnóstico por imagemRESUMO
Salivary and mammary glands are both exocrine organs sharing multiple tumorigenic processes. To the best of our knowledge, salivary gland tumors mimicking invasive lobular carcinoma of the breast have not yet been described. Herein, we report a case of a 62-year-old male who presented with progressive facial paralysis. Pathologic examination revealed an ill-defined epithelial neoplasm exhibiting discohesive growth set within an extensively fibrotic stroma. Both perineural and intraneural invasion were present. E-cadherin and p120 immunostaining showed aberrant cytoplasmic expression. Targeted next-generation sequencing detected a frameshift mutation of the CTNNA1 gene as the only known pathogenic variant. The patient was treated with surgical resection, immunotherapy, and chemotherapy. Currently, he is alive with disease twenty months after disease onset.
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Neoplasias da Mama , Carcinoma Lobular , Neoplasias das Glândulas Salivares , Neoplasias da Mama/genética , Caderinas , Carcinoma Lobular/genética , Carcinoma Lobular/metabolismo , Carcinoma Lobular/patologia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/patologia , Glândulas Salivares/metabolismo , Glândulas Salivares/patologiaRESUMO
BACKGROUND: Adhesive capsulitis is a relatively common condition that can develop in cancer patients during treatment. Positron emission tomography - computed tomography (PET-CT) is routinely performed as a follow-up study in cancer patients after therapy. Being aware of PET-CT findings to suggest shoulder adhesive capsulitis may help to alert clinicians for the diagnosis of unsuspected shoulder capsulitis. AIM: To assess the association of shoulder adhesive capsulitis with cancer/therapy type and symptoms in cancer patients undergoing PET-CT. METHODS: Our prospective study received Institutional Review Board approval. Written informed consent was obtained from all patients, who answered a questionnaire regarding shoulder pain/stiffness at the time of PET-CT study, between March 2015 and April 2019. Patients with advanced glenohumeral arthrosis, metastatic disease or other mass in the shoulder, or shoulder arthroplasty were excluded. Patterns of shoulder capsule 18F-fluorodeoxyglucose (FDG) uptake were noted. Standard Uptake Value (SUV)max and SUVmean values were measured at rotator interval (RI) and deltoid muscle in bilateral shoulders. Normalized SUV (SUV of RI/SUV of deltoid muscle) was also calculated. We assessed if SUV values are different between symptomatic and asymptomatic patients in both shoulders. Covariates were age, gender, and therapy type (surgery, chemotherapy, radiation). Wilcoxon rank sum tests were used to compare unadjusted marginal differences for age, SUV measurements between symptomatic and asymptomatic patients. Multiple linear regression models were used to examine the relationship between right or left shoulder SUV measurements and symptom status, after adjusting for covariates. Statistical significance level was set at P < 0.05. RESULTS: Of 252 patients initially enrolled for the study (mean age 66 years, 67 symptomatic), shoulder PET-CT data were obtained in 200 patients (52 were excluded due to exclusion criteria above). The most common cancer types were lymphoma (n = 61), lung (n = 54) and breast (n = 53). No significant difference was noted between symptomatic and asymptomatic patients in terms of age, gender, proportion of patients who had surgical therapy and radiation therapy. A proportion of patients who received chemotherapy was higher in patients who were asymptomatic in the right shoulder compared to those symptomatic in the right shoulder (65% vs 48%, P = 0.012). No such difference was seen for the left shoulder. In both shoulders, SUVmax and SUVmean were higher in symptomatic shoulders than asymptomatic shoulders (Left SUVmax 2.0 vs 1.6, SUVmean 1.6 vs 1.3, both P < 0.002; Right SUVmax 2.2 vs 1.8, SUVmean 1.8 vs 1.5, both P < 0.01). For lung cancer patients, bilateral RI SUVmax and SUVmean values were higher in symptomatic shoulders than asymptomatic shoulders. For other cancer patients, symptomatic patients had higher left RI SUVmax/mean than asymptomatic patients after adjustment. CONCLUSION: In symptomatic patients metabolic activities in RI were higher than asymptomatic patients. Adhesive capsulitis should be considered in cancer patients with shoulder symptoms and positive FDG uptake in RI.
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The posteromedial cortex (PMC) is known to be a core node of the default mode network. Given its anatomical location and blood supply pattern, the effects of targeted disruption of this part of the brain are largely unknown. Here, we report a rare case of a patient (S19_137) with confirmed seizures originating within the PMC. Intracranial recordings confirmed the onset of seizures in the right dorsal posterior cingulate cortex, adjacent to the marginal sulcus, likely corresponding to Brodmann area 31. Upon the onset of seizures, the patient reported a reproducible sense of self-dissociation-a condition he described as a distorted awareness of the position of his body in space and feeling as if he had temporarily become an outside observer to his own thoughts, his "me" having become a separate entity that was listening to different parts of his brain speak to each other. Importantly, 50-Hz electrical stimulation of the seizure zone and a homotopical region within the contralateral PMC induced a subjectively similar state, reproducibly. We supplement our clinical findings with the definition of the patient's network anatomy at sites of interest using cortico-cortical-evoked potentials, experimental and resting-state electrophysiological connectivity, and individual-level functional imaging. This rare case of patient S19_137 highlights the potential causal importance of the PMC for integrating self-referential information and provides clues for future mechanistic studies of self-dissociation in neuropsychiatric populations.
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Córtex Cerebral/fisiopatologia , Epilepsia/psicologia , Convulsões/psicologia , Adulto , Conscientização , Córtex Cerebral/diagnóstico por imagem , Estimulação Elétrica , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Giro do Cíngulo/diagnóstico por imagem , Giro do Cíngulo/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologia , Adulto JovemRESUMO
BACKGROUND: Repeated practice to acquire expertise could result in the structural and functional changes in relevant brain circuits as a result of long-term potentiation, neurogenesis, glial genesis, and remodeling. PURPOSE: The goal of this study is to use task fMRI to study the brain of expert radiologists performing a diagnosis task where a series of medical images were presented during fMRI acquisition for 12s and participants were asked to choose a diagnosis. Structural and diffusion-tensor MRI were also acquired. METHODS: Radiologists (N = 12, 11M, 38.2±10.3 years old) and non-radiologists (N = 17, 15M, 30.6±5.5 years old) were recruited with informed consent. Medical images were presented for 12 s and three multiple choices were displayed and the participants were asked to choose a diagnosis. fMRI, structural and diffusion-tensor MRI were acquired. fMRI analysis used FSL to determine differences in fMRI responses between groups. Voxel-wise analysis was performed to determine if subcortical volume, cortical thickness and fractional anisotropy differed between groups. Correction for multiple comparisons used false discovery rate. RESULTS: Radiologists showed overall lower task-related brain activation than non-radiologists. Radiologists showed significantly lower activation in the left lateral occipital cortex, left superior parietal lobule, occipital pole, right superior frontal and precentral gyri, lingual gyrus, and the left intraparietal sulcus (p<0.05). There were no significant differences between groups in cortical thickness, subcortical volume and fractional anisotropy (p>0.05). CONCLUSIONS: Radiologists and non-radiologists had no significant difference in structural metrics. However, in diagnosis tasks, radiologists showed markedly lower task-related brain activations overall as well as a number of high-order visual and non-visual brain regions than non-radiologists. Some brain circuits appear to be uniquely associated with differential-diagnosis paradigm expertise that are not involved in simpler object-recognition cases. Improved understanding of the brain circuitry involved in acquisition of expertise might be used to design optimal training paradigms.
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Encéfalo/fisiologia , Imageamento por Ressonância Magnética , Adulto , Encéfalo/anatomia & histologia , Encéfalo/diagnóstico por imagem , Feminino , Lobo Frontal/anatomia & histologia , Lobo Frontal/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Occipital/anatomia & histologia , Lobo Occipital/fisiologia , Lobo Parietal/anatomia & histologia , Lobo Parietal/fisiologia , RadiologistasRESUMO
LEVEL OF EVIDENCE: 5 TECHNICAL EFFICACY: Stage 3 J. Magn. Reson. Imaging 2020;51:1514-1515.