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Online supplemental material is available for this article.
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Encefalopatías/diagnóstico por imagen , Encefalopatías/virología , Encéfalo/diagnóstico por imagen , Infecciones por Coronavirus/diagnóstico por imagen , Neumonía Viral/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Betacoronavirus/aislamiento & purificación , Encéfalo/patología , Encefalopatías/epidemiología , COVID-19 , Comorbilidad , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/patología , Femenino , Humanos , Unidades de Cuidados Intensivos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pandemias , Neumonía Viral/complicaciones , Neumonía Viral/epidemiología , Neumonía Viral/patología , Estudios Retrospectivos , SARS-CoV-2RESUMEN
BACKGROUND: There is a growing interest in noninvasively defining molecular subsets of hemispheric diffuse gliomas based on the isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase gene promoter (TERTp) mutation status, which correspond to distinct tumor entities, and differ in demographics, natural history, treatment response, recurrence, and survival patterns. PURPOSE: To investigate whether metabolite levels detected with short echo time (TE) proton MR spectroscopy (1 H-MRS) at 3T can be used for noninvasive molecular classification of IDH and TERTp mutation-based subsets of gliomas. STUDY TYPE: Retrospective. SUBJECTS: In all, 112 hemispheric diffuse gliomas (70 males/42 females, mean age: 42.1 ± 13.9 years). FIELD STRENGTH/SEQUENCE: Short-TE 1 H-MRS (repetition time (TR) = 2000 msec, TE = 30 msec, number of signal averages = 192) and routine clinical brain tumor MR protocols were acquired at 3T. ASSESSMENT: 1 H-MRS data were quantified using LCModel software. TERTp and IDH1 or IDH2 (IDH1/2) mutations in the tissue were determined by either minisequencing or Sanger sequencing. STATISTICAL TESTS: Metabolic differences between IDH mutant and IDH wildtype gliomas were assessed by a Mann-Whitney U-test. A Kruskal-Wallis test followed by a Tukey-Kramer test was used to analyze metabolic differences between IDH and TERTp mutational molecular subsets of gliomas. A Spearman rank correlation coefficient was used to assess the correlations of metabolite intensities with the Ki-67 index. Furthermore, machine learning was employed to classify the IDH and TERTp mutational status of gliomas, and the accuracy, sensitivity, and specificity values were estimated. RESULTS: Short-TE 1 H-MRS classified the presence of an IDH mutation with 88.39% accuracy, 76.92% sensitivity, and 94.52% specificity, and a TERTp mutation within primary IDH wildtype gliomas with 92.59% accuracy, 83.33% sensitivity, and 95.24% specificity. DATA CONCLUSION: Short-TE 1 H-MRS could be used to identify molecular subsets of hemispheric diffuse gliomas corresponding to IDH and TERTp mutations. LEVEL OF EVIDENCE: 3 Technical Efficacy Stage: 2 J. Magn. Reson. Imaging 2020;51:1799-1809.
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Neoplasias Encefálicas , Glioma , Telomerasa , Adulto , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Femenino , Glioma/diagnóstico por imagen , Glioma/genética , Humanos , Isocitrato Deshidrogenasa/genética , Masculino , Persona de Mediana Edad , Mutación , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Telomerasa/genéticaRESUMEN
Severe SARS-CoV-2 (COVID-19) infection has the potential for a high mortality rate. In this paper, we report the results of plasmapheresis treatment in a series of severely ill patients with COVID-19-related autoimmune meningoencephalitis in the Intensive Care Unit (ICU).
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Infecciones por Coronavirus/terapia , Plasmaféresis/métodos , Neumonía Viral/terapia , Enfermedades Autoinmunes/terapia , Betacoronavirus/patogenicidad , COVID-19 , Infecciones por Coronavirus/complicaciones , Femenino , Humanos , Masculino , Meningoencefalitis/complicaciones , Meningoencefalitis/terapia , Persona de Mediana Edad , Pandemias , Neumonía Viral/complicaciones , SARS-CoV-2RESUMEN
PURPOSE: The goal of this study was to determine stoma and flow patency with 3D SPACE T2 and 3D CISS sequences in cases with cystocisternostomy or cystoventriculostomy. METHODS: A total of sixty three patients (total 106 MRI examinations) with endoscopic cystocisternostomy or cystoventriculostomy of arachnoid cyst underwent 1.5-3 T MRI to determine flow patency between June 2007 and April 2018. Postoperative results, the patients' clinic and arachnoid cyst volume were used to confirm stoma and flow patency in MRI. RESULTS: The stoma was open and functional in forty three patients. Minimal flow was detected in five patients. Fifteen patients with closed stoma (total 17 MR images) were evaluated with the clinician. Patients' clinic, physical examination, and growth (for pediatric patients) were evaluated. Three of fifteen patients were re-operated. Operative findings and postoperative follow-up MR imaging findings were correlated with our preoperative MRI results. The findings were in compliance in both groups (operated-non-operated groups). CONCLUSION: 3D SPACE T2 and 3D CISS are effective sequences in addition to other routine conventional sequences to evaluate stoma and flow patency.
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Quistes Aracnoideos , Quistes Aracnoideos/diagnóstico por imagen , Quistes Aracnoideos/cirugía , Niño , Endoscopía , Humanos , Imagen por Resonancia Magnética , Periodo PosoperatorioRESUMEN
PURPOSE: To test whether the combined use of 4D arterial spin labeling angiography (4D ASL) and contrast-enhanced magnetic resonance angiography (4D CE-MRA) can work as a prospective alternative to digital subtraction angiography (DSA) for the delineation of the arteriovenous malformation (AVM) nidus in stereotactic radiosurgery (SRS) planning. MATERIALS AND METHODS: A custom 4D ASL sequence and a proof-of-concept software tool to integrate 4D ASL data to SRS planning were implemented. Ten AVM patients were scanned at 3T. Two observers independently contoured niduses in two separate sessions. Reference niduses were contoured using DSA, 4D ASL, and 4D CE-MRA. Test niduses were contoured using 4D ASL and 4D CE-MRA only. Reference and test niduses from both observers were compared in terms of volume, distance between centers of volumes (dCOV), and the Jaccard index (JI). RESULTS: In volume comparisons, excellent intraobserver and interobserver agreements were obtained (intraclass correlation coefficients: 0.99 and 0.98, respectively). Median dCOV, JIs between reference and test niduses were 0.55 mm, 0.78 for Observer 1 and were 0.6 mm, 0.78 for Observer 2. None of the dCOV and JI parameters varied significantly among the delineation methods or the observers (P = 0.84, P = 0.39). CONCLUSION: Our preliminary results indicate that reproducibility of the target volumes with high agreement levels is achievable without using DSA. The combined use of high temporal resolution 4D ASL and high spatial resolution and vessel-to-background contrast 4D CE-MRA provided sufficient spatiotemporal angiographic information for the delineation of AVM niduses. LEVEL OF EVIDENCE: 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017;46:1718-1727.
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Angiografía de Substracción Digital/métodos , Imagenología Tridimensional/métodos , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Malformaciones Arteriovenosas Intracraneales/cirugía , Angiografía por Resonancia Magnética/métodos , Radiocirugia/métodos , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Marcadores de Spin , Adulto JovenRESUMEN
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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Encefalopatías/genética , Encéfalo/anomalías , Análisis Mutacional de ADN/métodos , Proteínas del Tejido Nervioso/genética , Animales , Secuencia de Bases , Encéfalo/crecimiento & desarrollo , Encéfalo/patología , Encefalopatías/patología , Proteínas de Ciclo Celular , Femenino , Genes Recesivos , Humanos , Masculino , Ratones , Microcefalia/genética , Microcefalia/patología , Datos de Secuencia Molecular , Mutación , Proteínas del Tejido Nervioso/metabolismo , LinajeRESUMEN
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 Recesivos/genética , Degeneración Nerviosa/enzimología , Degeneración Nerviosa/patología , Neuronas/enzimología , Neuronas/patología , Ubiquitina Tiolesterasa/genética , Adulto , Edad de Inicio , Secuencia de Aminoácidos , Secuencia de Bases , Preescolar , Exoma/genética , Femenino , Homocigoto , Humanos , Hidrólisis , Masculino , Modelos Moleculares , Datos de Secuencia Molecular , Mutación Missense/genética , Linaje , Unión Proteica , Análisis de Secuencia de ADN , Especificidad por Sustrato , Síndrome , Termodinámica , Ubiquitina/metabolismo , Ubiquitina Tiolesterasa/química , Ubiquitina Tiolesterasa/metabolismoRESUMEN
We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that affected individuals had brains less than 10% of expected size (≤10 standard deviation) and that in addition to a massive reduction in neuron production they displayed partially deficient cortical lamination (microlissencephaly). Other body systems were apparently unaffected and overall growth was normal. We found two distinct homozygous mutations of NDE1, c.83+1G>T (p.Ala29GlnfsX114) in a Turkish family and c.684_685del (p.Pro229TrpfsX85) in two families of Pakistani origin. Using patient cells, we found that c.83+1G>T led to the use of a novel splice site and to a frameshift after NDE1 exon 2. Transfection of tagged NDE1 constructs showed that the c.684_685del mutation resulted in a NDE1 that was unable to localize to the centrosome. By staining a patient-derived cell line that carried the c.83+1G>T mutation, we found that this endogeneously expressed mutated protein equally failed to localize to the centrosome. By examining human and mouse embryonic brains, we determined that NDE1 is highly expressed in neuroepithelial cells of the developing cerebral cortex, particularly at the centrosome. We show that NDE1 accumulates on the mitotic spindle of apical neural precursors in early neurogenesis. Thus, NDE1 deficiency causes both a severe failure of neurogenesis and a deficiency in cortical lamination. Our data further highlight the importance of the centrosome in multiple aspects of neurodevelopment.
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Proteínas de Ciclo Celular/genética , Centrosoma/metabolismo , Corteza Cerebral/embriología , Proteínas Asociadas a Microtúbulos/genética , Neurogénesis , Animales , Corteza Cerebral/crecimiento & desarrollo , Preescolar , Análisis Mutacional de ADN , Células Epiteliales/metabolismo , Exones , Femenino , Ligamiento Genético , Células HeLa , Homocigoto , Humanos , Lactante , Masculino , Ratones , Microcefalia/genética , Mutación , Células-Madre Neurales/metabolismo , Neuronas , Fenotipo , Embarazo , ARN Mensajero/genética , ARN Mensajero/metabolismo , TransfecciónRESUMEN
A large body of published work shows that proton (hydrogen 1 [(1)H]) magnetic resonance (MR) spectroscopy has evolved from a research tool into a clinical neuroimaging modality. Herein, the authors present a summary of brain disorders in which MR spectroscopy has an impact on patient management, together with a critical consideration of common data acquisition and processing procedures. The article documents the impact of (1)H MR spectroscopy in the clinical evaluation of disorders of the central nervous system. The clinical usefulness of (1)H MR spectroscopy has been established for brain neoplasms, neonatal and pediatric disorders (hypoxia-ischemia, inherited metabolic diseases, and traumatic brain injury), demyelinating disorders, and infectious brain lesions. The growing list of disorders for which (1)H MR spectroscopy may contribute to patient management extends to neurodegenerative diseases, epilepsy, and stroke. To facilitate expanded clinical acceptance and standardization of MR spectroscopy methodology, guidelines are provided for data acquisition and analysis, quality assessment, and interpretation. Finally, the authors offer recommendations to expedite the use of robust MR spectroscopy methodology in the clinical setting, including incorporation of technical advances on clinical units.
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Biomarcadores/metabolismo , Enfermedades del Sistema Nervioso Central/diagnóstico , Espectroscopía de Resonancia Magnética/métodos , Enfermedades del Sistema Nervioso Central/metabolismo , Enfermedades del Sistema Nervioso Central/patología , HumanosRESUMEN
BACKGROUND: Incidental diagnosis of saccular aneurysms is more common with the advent of imaging techniques. Because of the severe morbidity and mortality that they can cause, treatment is chased for them, either microsurgical treatment or endovascular, even when they are diagnosed incidentally. Carotid cave aneurysms are rare, and they seem to have a more benign course compared to other intracranial aneurysms, probably related to the physical enveloping effect of the surrounding structures. Yet, their microsurgical treatment is a serious challenge technically for the neurosurgeon, with its severe morbidity and mortality for the patient. Endovascular techniques have their risks, too. PURPOSE: In this paper, we analyzed and presented our series of incidentally diagnosed carotid cave aneurysms. MATERIALS AND METHODS: The age, gender of patients, the size, laterality, and MR angiographic follow-up of aneurysms were reported. Their clinical results were noted. RESULTS: Fifty-six patients who had incidentally been diagnosed with 59 carotid cave aneurysms were followed up. No patient was microsurgically treated, but 15 patients had endovascular treatment for 15 aneurysms. The mean size of 15 treated aneurysms was 4.6 ± 2.1 (range = 2-10) mm, and it was 3.0 ± 1.5 (range = 1.7-10) mm for the untreated aneurysms (n = 44). There was no significant difference between the follow-up times of the treated and untreated groups (P = 0.487). The median follow-up of 59 aneurysms in 56 patients was 52 (mean = 49.6 ± 27.9, range = 1-124) months, with a total follow-up of 244 aneurysm years. None of the patients had subarachnoid hemorrhage related to carotid cave aneurysms during follow-up, and none of the aneurysms had shown growth. Two patients who had endovascular treatment had ischemic complications with minor neurologic deficits. CONCLUSION: Follow-up can be a reasonable option for the incidental aneurysms that are located and confined to the carotid cave. Additionally, TOF might be a reliable method for follow-up imaging of carotid cave aneurysms.
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Procedimientos Endovasculares , Hallazgos Incidentales , Aneurisma Intracraneal , Humanos , Masculino , Femenino , Aneurisma Intracraneal/cirugía , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/terapia , Persona de Mediana Edad , Procedimientos Endovasculares/métodos , Anciano , Adulto , Enfermedades de las Arterias Carótidas/cirugía , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Arteria Carótida Interna/cirugía , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/patologíaRESUMEN
S100 protein expression levels and neurofibromatosis type 2 (NF-2) mutations result in different disease courses in meningiomas. This study aimed to investigate non-invasive biomarkers of NF-2 copy number loss and S100 protein expression in meningiomas using morphological, radiomics, and deep learning-based features of susceptibility-weighted MRI (SWI). This retrospective study included 99 patients with S100 protein expression data and 92 patients with NF-2 copy number loss information. Preoperative cranial MRI was conducted using a 3T clinical MR scanner. Tumor volumes were segmented on fluid-attenuated inversion recovery (FLAIR) and subsequent registration of FLAIR to high-resolution SWI was performed. First-order textural features of SWI were extracted and assessed using Pyradiomics. Morphological features, including the tumor growth pattern, peritumoral edema, sinus invasion, hyperostosis, bone destruction, and intratumoral calcification, were semi-quantitatively assessed. Mann-Whitney U tests were utilized to assess the differences in the SWI features of meningiomas with and without S100 protein expression or NF-2 copy number loss. A logistic regression analysis was used to examine the relationship between these features and the respective subgroups. Additionally, a convolutional neural network (CNN) was used to extract hierarchical features of SWI, which were subsequently employed in a light gradient boosting machine classifier to predict the NF-2 copy number loss and S100 protein expression. NF-2 copy number loss was associated with a higher risk of developing high-grade tumors. Additionally, elevated signal intensity and a decrease in entropy within the tumoral region on SWI were observed in meningiomas with S100 protein expression. On the other hand, NF-2 copy number loss was associated with lower SWI signal intensity, a growth pattern described as "en plaque", and the presence of calcification within the tumor. The logistic regression model achieved an accuracy of 0.59 for predicting NF-2 copy number loss and an accuracy of 0.70 for identifying S100 protein expression. Deep learning features demonstrated a strong predictive capability for S100 protein expression (AUC = 0.85 ± 0.06) and had reasonable success in identifying NF-2 copy number loss (AUC = 0.74 ± 0.05). In conclusion, SWI showed promise in identifying NF-2 copy number loss and S100 protein expression by revealing neovascularization and microcalcification characteristics in meningiomas.
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PURPOSE: Isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase gene promoter (TERTp) mutations play crucial roles in glioma biology. Such genetic information is typically obtained invasively from excised tumor tissue; however, these mutations need to be identified preoperatively for better treatment planning. The relative cerebral blood volume (rCBV) information derived from dynamic susceptibility contrast MRI (DSC-MRI) has been demonstrated to correlate with tumor vascularity, functionality, and biology, and might provide some information about the genetic alterations in gliomas before surgery. Therefore, this study aims to predict IDH and TERTp mutational subgroups in gliomas using deep learning applied to rCBV images. METHOD: After the generation of rCBV images from DSC-MRI data, classical machine learning algorithms were applied to the features obtained from the segmented tumor volumes to classify IDH and TERTp mutation subgroups. Furthermore, pre-trained convolutional neural networks (CNNs) and CNNs enhanced with attention gates were trained using rCBV images or a combination of rCBV and anatomical images to classify the mutational subgroups. RESULTS: The best accuracies obtained with classical machine learning algorithms were 83 %, 68 %, and 76 % for the identification of IDH mutational, TERTp mutational, and TERTp-only subgroups, respectively. On the other hand, the best-performing CNN model achieved 88 % accuracy (86 % sensitivity, 91 % specificity) for the IDH-mutational subgroups, 70 % accuracy (73 % sensitivity and 67 % specificity) for the TERTp-mutational subgroups, and 84 % accuracy (86 % sensitivity, 81 % specificity) for the TERTp-only subgroup using attention gates. CONCLUSIONS: DSC-MRI can be utilized to noninvasively classify IDH- and TERTp-based molecular subgroups of gliomas, facilitating preoperative identification of these genetic alterations.
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Neoplasias Encefálicas , Aprendizaje Profundo , Glioma , Humanos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Glioma/diagnóstico por imagen , Glioma/genética , Glioma/patología , Isocitrato Deshidrogenasa/genética , Imagen por Resonancia Magnética , MutaciónRESUMEN
Solitary necrotic nodule of the liver (SNNL) is a rare benign lesion with uncertain etiology characterized by a "completely necrotic core" and a hyalinized capsule containing elastin fibers (Journal of Clinical Pathology 36:1181-1183, 1983). We report herein a 26-year-old woman with a previous diagnosis of rheumatoid arthritis, systemic lupus erythematosus, and Sjögren's syndrome and no history of malignancy who presented with a complaint of diarrhea of 1-year duration. In the abdominal ultrasound, multiple paraaortic, portocaval, and ileal lymphadenopathies (LAPs) have been found with the largest one being 2 cm in size. The biopsy of the iliac LAP showed reactive nodular hyperplasia. An abdominal CT disclosed an incidental hypoechoic, heterogenous mass sized 27 × 27 mm close to segment VI of the liver. A trucut biopsy of this lesion was made, and clinicopathologic features of the specimen were compatible with a solitary necrotic nodule of the liver. Here, we discuss the diagnosis and the clinical course of this rare entity in light of current literature.
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Background: The 2021 World Health Organization (WHO) Central Nervous System (CNS) Tumor Classification has suggested that isocitrate dehydrogenase wildtype (IDH-wt) WHO grade-2/3 astrocytomas with molecular features of glioblastoma should be designated as "Glioblastoma, IDH-wildtype, WHO grade-4." This study analyzed the metabolic correlates of progression free and overall survival in "Glioblastoma, IDH-wildtype, WHO grade-4" patients using short echo time single voxel 1H-MRS. Methods: Fifty-seven adult patients with hemispheric glioma fulfilling the 2021 WHO CNS Tumor Classification criteria for "Glioblastoma, IDH-wildtype, WHO grade-4" at presurgery time point were included. All patients were IDH1/2-wt and TERTp-mut. 1H-MRS was performed on a 3 T MR scanner and post-processed using LCModel. A Mann-Whitney U test was used to assess the metabolic differences between gliomas with or without contrast enhancement and necrosis. Cox regression analysis was used to assess the effects of age, extent of resection, presence of contrast enhancement and necrosis, and metabolic intensities on progression-free survival (PFS) and overall survival (OS). Machine learning algorithms were employed to discern possible metabolic patterns attributable to higher PFS or OS. Results: Contrast enhancement (p = 0.015), necrosis (p = 0.012); and higher levels of Glu/tCr (p = 0.007), GSH/tCr (p = 0.019), tCho/tCr (p = 0.032), and Glx/tCr (p = 0.010) were significantly associated with shorter PFS. Additionally, necrosis (p = 0.049), higher Glu/tCr (p = 0.039), and Glx/tCr (p = 0.047) were significantly associated with worse OS. Machine learning models differentiated the patients having longer than 12 months OS with 81.71% accuracy and the patients having longer than 6 months PFS with 77.41% accuracy. Conclusion: Glx and GSH have been identified as important metabolic correlates of patient survival among "IDH-wt, TERT-mut diffuse gliomas" using single-voxel 1H-MRS on a clinical 3 T MRI scanner.
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BACKGROUND: Diffuse leptomeningeal glioneuronal tumors (DL-GNT) are rare glioneuronal neoplasms with oligodendroglioma-like cells. These tumors can present as a dominant intracranial mass or as a solitary spinal cord mass without leptomeningeal involvement. In this study, we aimed to determine the magnetic resonance imaging and histopathological features, treatment modalities, and clinical outcomes of the parenchymal forms of DL-GNTs. METHODS: This is a retrospective three-center case series study of 5 patients with a confirmed parenchymal form of DLGTs, out of which 4 patients were adults. Brain and spinal cord MR imaging were performed in all patients at either 1.5 or 3T. The patients' age ranged from 5 years to 50 years with a mean age of 27.6 years at presentation. RESULTS: Four of the tumors were located in the frontal lobe, and one in the tectum. They were usually solid-cystic enhancing tumors as the other mixed neuronal-glial tumors. All of the tumors had an extension to the superficial surface of a cerebral hemisphere. One had systemic bone metastases. The clinical signs and symptoms of the parenchymal form varied based on the location of the mass, in contrast to the leptomeningeal form associated with hydrocephalus. In one case, the tumor's initial grade was defined as intermediate. The initial histopathology of the two cases was low-grade and no upgrade occurred in the follow-up period. In two cases, although the tumors were low grade initially, they progressed to an anaplastic form in the follow-up period. CONCLUSION: The parenchymal form of DL-GNTs is common in adults. Extension to the superficial surface of a cerebral hemisphere is a distinctive imaging feature. Systemic osseous metastasis may occur. Due to the presence of common histopathological features, including the biphasic composition of glial and neuronal cell elements and oligodendroglioma-like cells, a proposed classification approach might be more beneficial for the histopathological and imaging description, and management of the glioneuronal tumors with oligodendroglioma-like features.
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Glioma , Neoplasias Meníngeas , Oligodendroglioma , Adulto , Humanos , Preescolar , Oligodendroglioma/diagnóstico por imagen , Oligodendroglioma/patología , Estudios Retrospectivos , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/patología , Encéfalo/patologíaRESUMEN
The aim of this study was to evaluate the computed tomography (CT) and magnetic resonance imaging findings (MRI) of asymptomatic remote cerebellar hemorrhage (RCH) at the preoperative, early postoperative, and postoperative period. A total of 983 consecutive adult patients who underwent supratentorial craniotomies were included in the study. The ethics committee approved the study. The patient's clinical records and radiological examinations were retrospectively analyzed. All patients had preoperative CT and MRI examinations, immediate postoperative CT, and postoperative MRI within 24 h. The patients with the radiological diagnosis of RCH were followed up to 5 years. Eight asymptomatic RCH cases were recruited. The prevalence of asymptomatic RCH was 0.8% in our series. RCH was unilateral in two patients and bilateral in six patients. The postoperative CT was positive in two cases. The hemorrhage presented on MRI as folial linear hypointensities in six cases. In three cases (including one mixed case), punctate hypointense spots were identified at the superior cerebellar folia. Diffuse hemorrhage in the cerebellar tonsil, subarachnoid hemorrhage, and hemorrhage in the cerebellar vermis and the ventricles were also seen. The MRI findings were stable up to 5 years. The prevalence of asymptomatic RCH is higher than previously reported. Immediate postoperative CT is usually unremarkable; however, MRI demonstrates various hemorrhagic patterns at the cerebellum other than classical "zebra sign". This condition is self-limiting and no further investigation or follow-up study is required. In the proper clinical setting, the awareness of different hemorrhagic patterns in patients with RCH would prevent unnecessary investigations.
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Hemorragia Cerebral/patología , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Complicaciones PosoperatoriasRESUMEN
The primary aim of Gamma Knife (GK) radiosurgery is to deliver high-dose radiation precisely to a target while conforming to the target shape. In this study, the effects of tumor shape irregularity (TSI) on GK dose-plan quality and treatment outcomes were analyzed in 234 vestibular schwannomas. TSI was quantified using seven different metrics including volumetric index of sphericity (VioS). GK treatment plans were created on a single GK-Perfexion/ICON platform. The plan quality was measured using selectivity index (SI), gradient index (GI), Paddick's conformity index (PCI), and efficiency index (EI). Correlation and linear regression analyses were conducted between shape irregularity features and dose plan indices. Machine learning was employed to identify the shape feature that predicted dose plan quality most effectively. The treatment outcome analysis including tumor growth control and serviceable hearing preservation at 2 years, were conducted using Cox regression analyses. All TSI features correlated significantly with the dose plan indices (P < 0.0012). With increasing tumor volume, vestibular schwannomas became more spherical (P < 0.05) and the dose plan indices varied significantly between tumor volume subgroups (P < 0.001 and P < 0.01). VioS was the most effective predictor of GK indices (P < 0.001) and we obtained 89.36% accuracy (79.17% sensitivity and 100% specificity) for predicting PCI. Our results indicated that TSI had significant effects on the plan quality however did not adversely affect treatment outcomes.
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Neuroma Acústico , Radiocirugia , Humanos , Radiocirugia/métodos , Neuroma Acústico/radioterapia , Neuroma Acústico/cirugía , Neuroma Acústico/patología , Carga Tumoral , Resultado del Tratamiento , Audición , Estudios RetrospectivosRESUMEN
OBJECTIVE: Gliomas frequently involve the insula both primarily and secondarily by invasion. Despite the high connectivity of the human insula, gliomas do not spread randomly to or from the insula but follow stereotypical anatomical involvement patterns. In the majority of cases, these patterns correspond to the intrinsic connectivity of the limbic system, except for tumors with aggressive biology. On the basis of these observations, the authors hypothesized that these different involvement patterns may be correlated with distinct outcomes and analyzed these correlations in an institutional cohort. METHODS: Fifty-nine patients who had undergone surgery for insular diffuse gliomas and had complete demographic, pre- and postoperative imaging, pathology, molecular genetics, and clinical follow-up data were included in the analysis (median age 37 years, range 21-71 years, M/F ratio 1.68). Patients with gliomatosis and those with only minor involvement of the insula were excluded. The presence of T2-hyperintense tumor infiltration was evaluated in 12 anatomical structures. Hierarchical biclustering was used to identify co-involved structures, and the findings were correlated with established functional anatomy knowledge. Overall survival was evaluated using Kaplan-Meier and Cox proportional hazards regression analysis (17 parameters). RESULTS: The tumors involved the anterior insula (98.3%), posterior insula (67.8%), temporal operculum (47.5%), amygdala (42.4%), frontal operculum (40.7%), temporal pole (39%), parolfactory area (35.6%), hypothalamus (23.7%), hippocampus (16.9%), thalamus (6.8%), striatum (5.1%), and cingulate gyrus (3.4%). A mean 4.2 ± 2.6 structures were involved. On the basis of hierarchical biclustering, 7 involvement patterns were identified and correlated with cortical functional anatomy (pure insular [11.9%], olfactocentric [15.3%], olfactoopercular [33.9%], operculoinsular [15.3%], striatoinsular [3.4%], translimbic [11.9%], and multifocal [8.5%] patterns). Cox regression identified hippocampal involvement (p = 0.006) and postoperative tumor volume (p = 0.027) as significant negative independent prognosticators of overall survival and extent of resection (p = 0.015) as a significant positive independent prognosticator. CONCLUSIONS: The study findings indicate that insular gliomas primarily involve the olfactocentric limbic girdle and that involvement in the hippocampocentric limbic girdle is associated with a worse prognosis.
Asunto(s)
Neoplasias Encefálicas , Glioma , Adulto , Anciano , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Corteza Cerebral/cirugía , Glioma/diagnóstico por imagen , Glioma/cirugía , Humanos , Sistema Límbico/diagnóstico por imagen , Sistema Límbico/patología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Pronóstico , Adulto JovenRESUMEN
A reliable and practical renal-lipid quantification and imaging method is needed. Here, the feasibility of an accelerated MRSI method to map renal fat fractions (FF) at 3T and its repeatability were investigated. A 2D density-weighted concentric-ring-trajectory MRSI was used for accelerating the acquisition of 48 × 48 voxels (each of 0.25 mL spatial resolution) without respiratory navigation implementations. The data were collected over 512 complex-FID timepoints with a 1250 Hz spectral bandwidth. The MRSI sequence was designed with a metabolite-cycling technique for lipid-water separation. The in vivo repeatability performance of the sequence was assessed by conducting a test-reposition-retest study within healthy subjects. The coefficient of variation (CV) in the estimated FF from the test-retest measurements showed a high degree of repeatability of MRSI-FF (CV = 4.3 ± 2.5%). Additionally, the matching level of the spectral signature within the same anatomical region was also investigated, and their intrasubject repeatability was also high, with a small standard deviation (8.1 ± 6.4%). The MRSI acquisition duration was ~3 min only. The proposed MRSI technique can be a reliable technique to quantify and map renal metabolites within a clinically acceptable scan time at 3T that supports the future application of this technique for the non-invasive characterization of heterogeneous renal diseases and tumors.