Imaging of metabolic and overload disorders in tissues and organs.

Metabolic and overload disorders are a heterogeneous group of relatively uncommon but important diseases. While imaging plays a key role in the early detection and accurate diagnosis in specific organs with a pivotal role in several metabolic pathways, most of these diseases affect different tissues as part of a systemic syndromes. Moreover, since the symptoms are often vague and phenotypes similar, imaging alterations can present as incidental findings, which must be recognized and interpreted in the light of further biochemical and histological investigations. Among imaging modalities, MRI allows, thanks to its multiparametric properties, to obtain numerous information on tissue composition, but many metabolic and accumulation alterations require a multimodal evaluation, possibly using advanced imaging techniques and sequences, not only for the detection but also for accurate characterization and quantification. The purpose of this review is to describe the different alterations resulting from metabolic and overload pathologies in organs and tissues throughout the body, with particular reference to imaging findings.

Dynamic contrast-enhanced (DCE) imaging: state of the art and applications in whole-body imaging.

Dynamic contrast-enhanced (DCE) imaging is a non-invasive technique used for the evaluation of tissue vascularity features through imaging series acquisition after contrast medium administration. Over the years, the study technique and protocols have evolved, seeing a growing application of this method across different imaging modalities for the study of almost all body districts. The main and most consolidated current applications concern MRI imaging for the study of tumors, but an increasing number of studies are evaluating the use of this technique also for inflammatory pathologies and functional studies. Furthermore, the recent advent of artificial intelligence techniques is opening up a vast scenario for the analysis of quantitative information deriving from DCE. The purpose of this article is to provide a comprehensive update on the techniques, protocols, and clinical applications - both established and emerging - of DCE in whole-body imaging.

Imaging side effects and complications of chemotherapy and radiation therapy: a pictorial review from head to toe.

Newer biologic drugs and immunomodulatory agents, as well as more tolerated and effective radiation therapy schemes, have reduced treatment toxicity in oncology patients. However, although imaging assessment of tumor response is adapting to atypical responses like tumor flare, expected changes and complications of chemo/radiotherapy are still routinely encountered in post-treatment imaging examinations. Radiologists must be aware of old and newer therapeutic options and related side effects or complications to avoid a misinterpretation of imaging findings. Further, advancements in oncology research have increased life expectancy of patients as well as the frequency of long-term therapy-related side effects that once could not be observed. This pictorial will help radiologists tasked to detect therapy-related complications and to differentiate expected changes of normal tissues from tumor relapse.

Spectrum of neuroimaging findings post-proton beam therapy in a large pediatric cohort.

PURPOSE: Proton beam therapy (PBT) is now well established for the treatment of certain pediatric brain tumors. The intrinsic properties of PBT are known to reduce long-term negative effects of photon radiotherapy (PRT). To better understand the intracranial effects of PBT, we analyzed the longitudinal imaging changes in a cohort of children with brain tumors treated by PBT with clinical and radiotherapy dose correlations. MATERIALS AND METHODS: Retrospective imaging review of 46 patients from our hospital with brain tumors treated by PBT. The imaging findings were correlated with clinical and dose parameters. RESULTS: Imaging changes were assessed by reviewing serial magnetic resonance imaging (MRI) scans following PBT over a follow-up period ranging from 1 month to 7 years. Imaging changes were observed in 23 patients undergoing PBT and categorized as pseudoprogression (10 patients, 43%), white matter changes (6 patients, 23%), parenchymal atrophy (6 patients, 23%), and cerebral large vessel arteriopathy (5 patients, 25%). Three patients had more than one type of imaging change. Clinical symptoms attributable to PBT were observed in 13 (28%) patients. CONCLUSION: In accordance with published literature, we found evidence of varied intracranial imaging changes in pediatric brain tumor patients treated with PBT. There was a higher incidence (10%) of large vessel cerebral arteriopathy in our cohort than previously described in the literature. Twenty-eight percent of patients had clinical sequelae as a result of these changes, particularly in the large vessel arteriopathy subgroup, arguing the need for angiographic and perfusion surveillance to pre-empt any morbidities and offer potential neuro-protection.

ColorViz, a New and Rapid Tool for Assessing Collateral Circulation during Stroke.

Prognosis of patients with acute ischemic stroke is strictly related to the patency and prominence of the collateral leptomeningeal pathways distal to the arterial occlusion. The gold standard for assessment of collateral circulation is conventional angiography, but it is invasive and used in selected cases. To date, the most reliable technique is multiphase CTA; currently, the available classifications of collateral circles are often complex, time-consuming, and require a trained observer. The purpose of our work is to establish the effectiveness of a new semi-automatic post-processing software (ColorViz FastStroke, GE Healthcare, Milwaukee, Wisconsin) in evaluation of collateral circulation compared to the six-point classifications of multiphase CTA already validated in literature. We selected 86 patients with anterior ischemic stroke symptoms who underwent multiphasic CTA in our emergency department. Two radiologists separately evaluated the collateral leptomeningeal vessels, analyzing respectively, the multiphase CTA (using the six-point scale and its trichotomized form) and ColorViz (using a three-point scale). Then the results were matched. We found a good correlation between the two different analyses; the main advantage of ColorViz is that, while maintaining fast diagnostic times, it allows a simpler and more immediate evaluation of collateral circulation, especially for less experienced radiologists.

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

OBJECTIVE: To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the multicilin gene. We hypothesize that the observed phenotype may reflect the emerging role that ependymal cilia play in regulating CSF production. METHOD: Clinical and radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by the Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory. RESULTS: On MRI scanning, all patients demonstrated hydrocephalus, choroid plexus hyperplasia (CPH), and arachnoid cysts. No patient had any sign of neurologic deficit. All patients had significant lung disease. CONCLUSIONS: We conclude that there is a high incidence of hydrocephalus, arachnoid cysts, and CPH in MCIDAS-associated RGMC. In all cases, the observed hydrocephalus seems arrested in childhood without progression or adverse neurologic sequelae. Our new observation of CPH, which is associated with CSF overproduction, is the first macroscopic evidence that ependymal cilia may be involved in the regulation of CSF production and flow. We suggest that brain imaging should be performed in all cases of RGMC and that a diagnosis of PCD or RGMC be strongly considered in patients with unexplained hydrocephalus and a lifelong "wet"-sounding cough.

Role of susceptibility-weighted imaging and intratumoral susceptibility signals in grading and differentiating pediatric brain tumors at 1.5 T: a preliminary study.

PURPOSE: Susceptibility-weighted imaging (SWI) is useful for glioma grading and discriminating between brain tumor categories in adults, but its diagnostic value for pediatric brain tumors is unclear. Here we evaluated the usefulness of SWI for pediatric tumor grading and differentiation by assessing intratumoral susceptibility signal intensity (ITSS). METHODS: We retrospectively enrolled 96 children with histopathologically diagnosed brain tumors, who underwent routine brain MRI exam with SWI (1.5 T scanner). Each tumor was assigned an ITSS score by a radiology resident and an experienced neuroradiologist, and subsequently by consensus. Statistical analyses were performed to differentiate between low-grade (LG) and high-grade (HG) tumors, histological categories, and tumor locations. Inter-reader agreement was assessed using Cohen's kappa (κ). RESULTS: The interobserver agreement was 0.844 (0.953 between first reader and consensus, and 0.890 between second reader and consensus). Among all tumors, we found a statistically significant difference between LG and HG for ITSS scores of 0 and 2 (p = 0.002). This correlation was weaker among astrocytomas alone, and became significant when considering only off-midline astrocytomas (p = 0.05). Scores of 0 and 2 were a strong discriminating factor (p = 0.001) for astrocytomas (score 0) and for embryonal, choroid plexus, germ-cell, pineal, and ependymoma tumors (score 2). No medulloblastoma showed a score of 0. CONCLUSIONS: Our preliminary ITTS results in pediatric brain tumors somewhat differed from those obtained in adult populations. These findings highlight the potential valuable role of ITSS for tumor grading and discriminating between some tumor categories in the pediatric population.

Investigating dynamic susceptibility contrast-enhanced perfusion-weighted magnetic resonance imaging in posterior fossa tumors: differences and similarities with supratentorial tumors.

PURPOSE: To assess the accuracy of dynamic susceptibility contrast-enhanced perfusion-weighted magnetic resonance imaging in glioma grading and brain tumor characterization of infratentorial tumors, and to investigate differences from supratentorial tumors. METHODS: This retrospective study, approved by the institutional review board, included 246 patients with brain tumors (184 supratentorial, 62 infratentorial), grouped by tumor type: high-grade gliomas (HGG), low-grade gliomas (LGG), metastases (Met), and primary central nervous system lymphoma (PCNSL). Relative cerebral blood volume (rCBV) and mean percentage of signal recovery (PSR) were calculated. For statistical analyses, lesions were grouped by location and histology. Differences were tested with Mann-Whitney U tests. From ROC curves, we calculated accuracy, sensitivity, specificity, PPV, and NPV, for rCBV and PSR. RESULTS: For infratentorial tumors, rCBV was highly accurate in differentiating HGG from LGG (AUC = 0.938). Mean PSR showed high accuracy in differentiating PCNSL and HGG from Met (AUC = 0.978 and AUC = 0.881, respectively). Infratentorial and supratentorial tumors had similarly high rCBV in HGG, high mean PSR in PCNSL, and low mean PSR in Met. The main differences were the optimum threshold rCBV values (3.04 for supratentorial, 1.77 for infratentorial tumors) and the mean PSR, which was significantly higher in LGG than in HGG in supratentorial (p = 0.035), but not infratentorial gliomas. Using infratentorial rCBV threshold values for supratentorial tumors decreased the sensitivity and specificity. CONCLUSION: rCBV and mean PSR were useful in grading and differentiating infratentorial tumors. Proper cutoff values were important in the accuracy of perfusion-weighted imaging in posterior fossa tumors.

Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type.

PURPOSE: BRAF V600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. The aim of this retrospective multicenter study was to analyze imaging features of BRAF V600E-mutant and wild-type cerebral pilocytic astrocytomas (PAs) and gangliogliomas (GGs), focusing on the role of diffusion weighted imaging (DWI). METHODS: We retrospectively evaluated 56 pediatric patients with histologically proven, treatment-naïve PAs and GGs who underwent conventional MRI, DWI, and molecular analysis for BRAF V600E mutation. Twenty-three subjects presented BRAF V600E-mutant (12 PAs and 11 GGs) and 33 BRAF V600E wild-type (26 PAs and 7 GGs) tumors. Imaging studies were reviewed for dominant site, margin definition, hemorrhage, calcification, cystic components, contrast enhancement, and relative mean and minimum ADC values (rADCmean and rADCmin). Statistics included Fisher's exact test, Student t test, general linear model, and receiver operating characteristic (ROC) analysis. RESULTS: PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. ROC analysis demonstrated similar performances between these parameters in predicting BRAF V600E status (rADCmean: AUC 0.831, p < 0.001; rADCmin: AUC 0.885, p < 0.001). No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.