Search

This article discusses the use of liquid biopsy of cerebrospinal fluid (CSF) to detect and target the BRAFV600E mutation in a patient with overlapping Erdheim-Chester Disease (ECD) and Rosai-Dorfman Disease (RDD). ECD and RDD are rare histiocytic disorders driven by genetic alterations in the MAP kinase pathway. The patient in this case had CNS involvement, and the liquid biopsy of CSF and plasma was crucial in driving the diagnostic work-up and identifying the BRAFV600E mutation. This case highlights the potential value of liquid biopsies in diagnosing and targeting therapeutic interventions in patients with histiocytoses and CNS involvement. [Extracted from the article]

Purpose: Vessel wall imaging (VWI) with black-blood (BB) technique can demonstrate aneurysmal enhancement preluding to growth/rupture in treatment-naive cerebral aneurysms. Interestingly, recent works showed that BB enhancement may also occur in endovascularly treated aneurysms, though its meaning is controversial. Hypothesizing a flow-related mechanism of BB enhancement, we explored its relationship with incomplete occlusion status and coil packing density at DSA. Methods: We analyzed the subjects undergoing 3T MRI between January 2017 and October 2020 for a previous aneurysmal coiling. All the MRI studies included pre- and post-contrast 3D BB sequences. The presence of intra-aneurysmal pre-contrast BB signal was assessed. BB enhancement (when present) was classified as follows: (1) enhancement at the neck, (2) intrasaccular/intra-coil enhancement, and (3) peripheral enhancement. Coil packing density and aneurysmal occlusion status (according to the modified Raymond-Roy classification, MRRC) were determined on post-treatment DSA and compared with BB findings using generalized linear mixed-effect model and ANOVA. Significant p values were <0.05. Results: Forty-eight aneurysms from 44 patients were eligible for analysis. Pre-contrast BB signal was observed in 50% of the aneurysms and showed a relationship with baseline aneurysmal size. BB enhancement was detectable in 31 aneurysms (65%), being significantly associated with incomplete aneurysmal occlusion and reduced coil packing density at DSA. Conclusion: BB enhancement of coiled aneurysms is related with increasing degrees of post-coiling aneurysmal remnants and with loose coil packing density at DSA. This supports a hemodynamic interpretation of BB enhancement in long-term coiled aneurysms. [ABSTRACT FROM AUTHOR]

Purpose: Primary central nervous system lymphoma (PCNSL) is a rare, aggressive form of extranodal non-Hodgkin lymphoma. To predict the overall survival (OS) in advance is of utmost importance as it has the potential to aid clinical decision-making. Though radiomics-based machine learning (ML) has demonstrated the promising performance in PCNSL, it demands large amounts of manual feature extraction efforts from magnetic resonance images beforehand. deep learning (DL) overcomes this limitation. Methods: In this paper, we tailored the 3D ResNet to predict the OS of patients with PCNSL. To overcome the limitation of data sparsity, we introduced data augmentation and transfer learning, and we evaluated the results using r stratified k-fold cross-validation. To explain the results of our model, gradient-weighted class activation mapping was applied. Results: We obtained the best performance (the standard error) on post-contrast T1-weighted (T1Gd)—area under curve = 0.81 (0.03) , accuracy = 0.87 (0.07) , precision = 0.88 (0.07) , recall = 0.88 (0.07) and F1-score = 0.87 (0.07) , while compared with ML-based models on clinical data and radiomics data, respectively, further confirming the stability of our model. Also, we observed that PCNSL is a whole-brain disease and in the cases where the OS is less than 1 year, it is more difficult to distinguish the tumor boundary from the normal part of the brain, which is consistent with the clinical outcome. Conclusions: All these findings indicate that T1Gd can improve prognosis predictions of patients with PCNSL. To the best of our knowledge, this is the first time to use DL to explain model patterns in OS classification of patients with PCNSL. Future work would involve collecting more data of patients with PCNSL, or additional retrospective studies on different patient populations with rare diseases, to further promote the clinical role of our model. [ABSTRACT FROM AUTHOR]

Introduction: The differential diagnosis of brain diseases becomes challenging in cases where imaging is not sufficiently informative, and surgical biopsy is impossible or unacceptable to the patient. Methods: An elderly patient with progressive short-term memory loss and cognitive impairment presented with a normal brain CT scan, a brain FDG-PET that indicated symmetrical deterioration of the white matter in the frontal lobes, and inconclusive results of a molecular marker analysis of suspected dementia in cerebrospinal fluid (CSF). Brain MRI suggested the diagnosis of lower grade glioma. The patient refused surgical biopsy. In order to investigate whether somatic mutations associated with gliomas existed, we performed a "liquid biopsy" by the targeted sequencing of cell-free DNA (cfDNA) from his CSF. Results: Deep sequencing of the cfDNA from CSF revealed somatic mutations characteristically found in gliomas, including mutations of the TP53 (Arg282Trp), BRAF (Val600Glu), and IDH1 (Arg132His) genes. The patient is currently treated with temozolomide, and his clinical and MRI findings suggest the stabilization of his disease. Conclusion: Neurological patients may benefit from liquid biopsy diagnostic work-up as it can reveal therapeutically targetable mutations. [ABSTRACT FROM AUTHOR]

Purpose: Patients with steno-occlusive arterial disease may develop cerebral hypoperfusion with possible neurologic sequelae. The aim of the study is to verify the possible role of SWI, as a marker of cerebral hypoperfusion, in the identification of patient subgroups with significant chronic occlusions/stenoses at risk of critical cerebral hypoperfusion. Methods: We retrospectively identified 37 asymptomatic patients with chronic intra-extracranial occlusion/stenosis of the anterior circulation from a prospective brain MRI register between 2016 and 2020. All patients underwent 3 Tesla MRI. The imaging protocol included the following: SWI, 3D-FLAIR, DWI sequences, and 3D-TOF MRA. SWI findings were graded for the presence of asymmetric intracranial cortical veins (grades 1 to 4). The presence of collateralization was assessed with concomitant multiphase-CTA. FLAIR was evaluated for the presence of distal hyperintense vessels (DHVs), a described marker of flow impairment, and possible collateralization. Cerebral blood flow and arterial transit artifacts (ATAs) were evaluated at pCASL in 29 patients. Results: SWI showed multiple hypointense vessels (MHVs) in 22/37 patients in the cerebral hemisphere ipsilateral to vessel occlusion/stenosis. SWI-MHV grade 1 was found in 15 patients (40.5%), grade 2 in 18 patients (48.7%), and grade 3 in 3 patients (8.1%); in one patient, SWI was graded as 4 (2.7%). A significant relationship was found among MHV, DHV, collaterals, ATAs, and hypoperfused areas on pCASL and with patients' previous neurological symptoms. Conclusion: SWI-MVH correlates with chronic cerebral flow impairment and is related to hypoperfusion and collateralization. It may help identify a subgroup of patients benefitting from revascularization. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the clinical meaning of brain parenchymal computed-tomography hyperdensities (CTHD) in patients treated of anterior circulation acute stroke with reperfusion therapy. Methods: Patients were retrospectively enrolled from three different hospitals. Brain CT scans were assessed at four time points: We recorded ASPECT scores of pre-treatment CTs, assessed ASPECT scores and the presence of CTHD on post-treatment CTs acquired within 24–30 h and 24–72 h, and examined a one-month CTs follow-up to determine the ischemic evolution of CTHD. We correlated the presence of CTHD with clinical and radiological data to define its predictive and prognostic factors. Results: In total, 165 patients were evaluated. At post-treatment CTs acquired within 24–30 h, 68 (41%) patients showed the presence of CTHD. On post-treatment CTs acquired within 24–72 h, 43 (63%) of the CTHD showed hemorrhagic transformation. Sixty-five (95%) out of the 68 CTHD evolved in a final ischemic brain area. Multivariate statistical analysis identified puncture to recanalization time to be the only independent factors predicting the presence of CTHD (p = 0.045). The presence of CTHD at the first post-treatment CTs was an independent factor for clinical outcome determined with mRS scores at 3-month follow-up (p = 0.05). Outcomes were worse for hemorrhagic transformation at follow-up CTs compared to the ischemic evolution of the CTHD (p = 0.01). Conclusions: The presence of CTHD at CTs imaging acquired within 24–30 h after reperfusion therapy is an independent prognostic factor of a worse clinical outcome, regardless of its ASPECT score at baseline CTs and of its hemorrhagic evolution. [ABSTRACT FROM AUTHOR]

Neurological and neuroradiological manifestations in patients with COVID-19 have been extensively reported. Available imaging data are, however, very heterogeneous. Hence, there is a growing need to standardise clinical indications for neuroimaging, MRI acquisition protocols, and necessity of follow-up examinations. A NeuroCovid working group with experts in the field of neuroimaging in COVID-19 has been constituted under the aegis of the Subspecialty Committee on Diagnostic Neuroradiology of the European Society of Neuroradiology (ESNR). The initial objectives of this NeuroCovid working group are to address the standardisation of the imaging in patients with neurological manifestations of COVID-19 and to give advice based on expert opinion with the aim of improving the quality of patient care and ensure high quality of any future clinical studies. Key Points: • In patients with COVID-19 and neurological manifestations, neuroimaging should be performed in order to detect underlying causal pathology. • The basic MRI recommended protocol includes T2-weighted, FLAIR (preferably 3D), and diffusion-weighted images, as well as haemorrhage-sensitive sequence (preferably SWI), and at least for the initial investigation pre and post-contrast T1 weighted-images. • 3D FLAIR should be acquired after gadolinium administration in order to optimise the detection of leptomeningeal contrast enhancement. [ABSTRACT FROM AUTHOR]

Background: Contrast-enhanced magnetic resonance angiography (CE-MRA) has become a very popular imaging technique in the evaluation of the extracranial vessels pathology, while it is not commonly used to rule out intracranial vascular pathology. On the contrary, 3D time of flight MRA (TOF-MRA) has a solid role in the study of intracranial arterial vessels disease. Materials and methods: One hundred and eight patients were consecutively included in the study. All patients were submitted to a 3 Tesla 3D CE-MRA imaging to rule out extracranial vessels pathology. A comparison was made with a 3D-TOF sequence acquired at the same time in the assessment of intracranial vessels diseases such as steno-occlusion, dissection, and aneurysms. Results: With regard to steno-occlusive disease, Spearman's rank correlation coefficient was of 0.56 for stenosis detection and of 0.57 for occlusive disease detection. The two techniques shared similar results in the evaluation of anterior circulation, while 3D-TOF found higher grades of stenosis for posterior circulation. With regard to dissection, Spearman's rank correlation coefficient was of 0.7. 3D-TOF depicted more intramural hematoma (Spearman's rank = 0.46), while CE-MRA showed more pseudo-aneurysms (Spearman's rank = 0.56). Both the technique equally evaluated the presence of intracranial aneurysms (Spearman's rank = 1). Conclusion: CE-MRA can be considered a reliable tool to rule out intracranial pathology associated to supraortic steno-occlusive disease, also allowing time reduction. In the suspicion of dissection a T1-weighted sequence has to be added to detect the presence of a subacute vessel wall hematoma. [ABSTRACT FROM AUTHOR]

Background: Early recognition and treatment of autoimmune encephalitis (AE) are crucial for patients, but diagnosis is often difficult and time-consuming. For this purpose, a syndrome-based diagnostic approach was published by Graus et al. (Lancet Neurol 15:391–404, 2016), but very little is known in the literature about its application in clinical practice. Aim: Our aims are to test the feasibility of such approach in a real-world single-centre setting and to analyse the most relevant factors in criteria fulfilment. Methods: We retrospectively applied these criteria to our cohort of patients discharged from our hospital with diagnosis of autoimmune encephalitis (n = 33, 58% antibody-positive). Results: All the subjects fulfilled criteria for possible AE (pAE), with EEG and MRI playing a central role in diagnosis, while CSF was useful mainly to rule out other conditions. Three patients respected criteria for probable anti-NMDA-R encephalitis (pNMDA). Definite anti-NMDAR encephalitis was diagnosed in 4 patients with detection of the autoantibody but, surprisingly, none of these subjects had fulfilled criteria for pNMDA. 18 patients were diagnosed with definite limbic AE (15 patients were antibody-positive, three antibody-negative). Need for MRI bilateral involvement in antibody-negative limbic AE limited diagnosis. One patient fulfilled criteria for probable antibody-negative AE, while ten patients remained classified as pAE. Conclusion: From our retrospective analysis, some suggestions for a better definition of the criteria may emerge. Larger studies on prospective cohorts may be more helpful to explore possible important issues. [ABSTRACT FROM AUTHOR]

Background: Volumetric assessment of aneurysmal bleeding has been evaluated in few studies and emerged as a promising outcome predictor. There is a lack of studies evaluating its impact in the poor-grade population.Methods: Retrospective review of 63 consecutive poor-grade aneurysmal subarachnoid hemorrhage (aSAH) patients, defined as grade IV and V according to the World Federation of Neurological Surgeons (WFNS) classifications. Global intracranial bleeding volume was calculated with its subarachnoid, intracerebral (ICH), and intraventricular (IVH) portions by means of analytical software. Univariate and multivariate analyses were performed in order to identify independent predictors of outcome. Good outcome was defined as modified Rankin Scale (mRS) 0-2 and mortality as mRS 6. The cutoff values of bleeding volumes were derived by receiver operating curve (ROC) analysis.Results: Mean follow-up was of 12.5 (± 1.5) months. Thirty (47.7%) patients achieved good outcome, whereas 19 (30.2) patients out of 63 died. Global intracranial bleeding resulted as an independent predictor of good outcome (cutoff 24 mL). Furthermore, ICH relative percentage of global volume (10% of total) and pure SAH (64% of total) emerged respectively as independent predictors of worsened and improved outcome. Global bleeding volume (cutoff 51 mL) along with global cerebral edema showed to independently predict mortality in the examined poor-grade aSAH population.Conclusions: Volumetric assessment of aneurysmal bleeding has the potential for identifying cutoff values that independently predict outcome. Further insights into the relative importance of different bleeding volumes may be implicated in better tailoring the management of this dismal aSAH population. [ABSTRACT FROM AUTHOR]

Purpose: Dynamic susceptibility contrast MRI (DSC) and dynamic contrast-enhanced MRI (DCE) are useful tools in the diagnosis and follow-up of brain gliomas; nevertheless, both techniques leave the open issue of data reproducibility. We evaluated the reproducibility of data obtained using two different commercial software for perfusion maps calculation and analysis, as one of the potential sources of variability can be the software itself. Methods: DSC and DCE analyses from 20 patients with gliomas were tested for both the intrasoftware (as intraobserver and interobserver reproducibility) and the intersoftware reproducibility, as well as the impact of different postprocessing choices [vascular input function (VIF) selection and deconvolution algorithms] on the quantification of perfusion biomarkers plasma volume (Vp), volume transfer constant ( K ) and rCBV. Data reproducibility was evaluated with the intraclass correlation coefficient (ICC) and Bland-Altman analysis. Results: For all the biomarkers, the intra- and interobserver reproducibility resulted in almost perfect agreement in each software, whereas for the intersoftware reproducibility the value ranged from 0.311 to 0.577, suggesting fair to moderate agreement; Bland-Altman analysis showed high dispersion of data, thus confirming these findings. Comparisons of different VIF estimation methods for DCE biomarkers resulted in ICC of 0.636 for K and 0.662 for Vp; comparison of two deconvolution algorithms in DSC resulted in an ICC of 0.999. Conclusions: The use of single software ensures very good intraobserver and interobservers reproducibility. Caution should be taken when comparing data obtained using different software or different postprocessing within the same software, as reproducibility is not guaranteed anymore. [ABSTRACT FROM AUTHOR]

Several studies have shown the usefulness of contrast-enhanced MR angiography (CE-MRA) for imaging the supraortic vessels, and, as a consequence, it has rapidly become a routine imaging modality. The main advantage over unenhanced techniques is the possibility to acquire larger volumes, allowing demonstration of the carotid artery from its origin to the intracranial portion. Most published studies on CE-MRA of the carotid arteries have been performed with standard Gd-based chelates whose T1 relaxivity values are similar. Recently new gadolinium chelates such as gadobenate dimeglumine (Gd-BOP-TA, MultiHance; Bracco Imaging, Milan, Italy) have been developed which have markedly higher intravascular T1 relaxivity values. When administered at an equivalent dose to that of a standard agent, these newer contrast agents produce significantly greater intravascular signal enhancement. The availability of an appropriate high-relaxivity contrast agent might also help to overcome some of the intrinsic technical problems (e. g. those related to flow) that affect time-of-flight (TOF) and phase contrast (PC) MR angiography of the intracranial vasculature. To avoid the problem of superimposition of veins, ultrafast gradient echo MRA techniques with very short TR and TE have been developed. Although the precise sequence parameters vary between manufacturers, they are basically similar. The choice between performing a time-resolved or high spatial resolution CE-MRA examination depends upon the precise clinical application. The most common applications include the study of cerebral aneurysms, arteriovenous malformations, dural arteriovenous fistulas and dural venous diseases. [ABSTRACT FROM AUTHOR]

Magnetic Resonance Angiography (MRA) is one of the most practical diagnostic imaging modalities in the field of neurovascular imaging where risks associated with catheter angiography are high. Evaluation of the extracranial supraortic vessels, and in particular the carotid arteries, is the major field of application for MRA. Before the development of rapid contrast-enhanced (CE) acquisition sequences, the major limitations of MRA pertaining to the carotid arteries was the limited volume of study when 3D time-offlight (TOF) images were acquired, and the saturation effects together with low spatial resolution and movement artifacts when 2D TOF images were acquired. Although technical improvements helped overcome some of these limitations, MRA was still not considered a valid diagnostic alternative to DSA for the evaluation of carotid artery stenosis until the advent of CE acquisitions. Most published studies on CE-MRA of the carotid arteries have been performed with standard gadolinium-based chelates which have similar r1 relaxivity values. Newer gadolinium chelates such as gadobenate dimeglumine (Multihance, Gd-BOPTA, Bracco) have higher intravascular r1 relaxivity than other agents such as Gd-DTPA. This leads to higher vascular peak enhancement of longer duration which has proven beneficial for improving vascular contrast. CEMRA is today considered a highly suitable replacement for conventional MRA techniques and DSA for the evaluation of extracranial carotid artery disease. Compared with unenhanced MRA sequences, CE-MRA permits complete and reliable evaluation of the internal carotid artery from the bifurcation to the intracranial segment. Moreover, the technique offers better overall accuracy for the depiction of tight stenosis and more confident diagnosis of real carotid occlusion versus subocclusive stenosis. [ABSTRACT FROM AUTHOR]

Despite the possibility of performing high quality and diagnostically useful examination of the intracranial vasculature using time-of-fight (TOF) and phase contrast (PC) MR angiography, there are still some intrinsic technical problems that limit the application of these techniques. Many of these problems, particulary those related to flow effects, can be avoided by the use of a suitable contrast agent. To avoid the problem of super-imposition of veins, ultrafast gradient echo MRA techniques with very short TR and TE have been developed. Although the precise sequence parameters vary between different manufacturers, they are similar. The choice between a time resolved or high spatial resolution CE-MRA technique is dependent upon the precise clinical application. The most common applications include the study of cerebral aneurysms, arterio-venous malformations, dural arterio-venous fistulas and venous diseases. [ABSTRACT FROM AUTHOR]