Imaging of Carotid Stenosis: Where Are We Standing? Comparison of Multiparametric Ultrasound, CT Angiography, and MRI Angiography, with Recent Developments.

Atherosclerotic disease of the carotid arteries is a crucial risk factor in predicting the likelihood of future stroke events. In addition, emerging studies suggest that carotid stenosis may also be an indicator of plaque load on coronary arteries and thus have a correlation with the risk of acute cardiovascular events. Furthermore, although in symptomatic patients the degree of stenosis is the main morphological parameter studied, recent evidence suggests, especially in asymptomatic patients, that plaque vulnerability should also be evaluated as an emerging and significant imaging parameter. The reference diagnostic methods for the evaluation of carotid stenosis are currently ultrasonography, magnetic resonance imaging (MRI), and computed tomography angiography (CTA). In addition, other more invasive methods such as 123I-metaiodobenzylguanidine (MIBG) scintigraphy and PET-CT, as well as digital subtraction angiography, can be used. Each method has advantages and disadvantages, and there is often some confusion in their use. For example, the usefulness of MRI is often underestimated. In addition, implementations for each method have been developed over the years and are already enabling a significant increase in diagnostic accuracy. The purpose of our study is to make an in-depth analysis of all the methods in use and in particular their role in the diagnostic procedure of carotid stenosis, also discussing new technologies.

Thyroid Nodule Characterization: Overview and State of the Art of Diagnosis with Recent Developments, from Imaging to Molecular Diagnosis and Artificial Intelligence.

Ultrasound (US) is the primary tool for evaluating patients with thyroid nodules, and the risk of malignancy assessed is based on US features. These features help determine which patients require fine-needle aspiration (FNA) biopsy. Classification systems for US features have been developed to facilitate efficient interpretation, reporting, and communication of thyroid US findings. These systems have been validated by numerous studies and are reviewed in this article. Additionally, this overview provides a comprehensive description of the clinical and laboratory evaluation of patients with thyroid nodules, various imaging modalities, grayscale US features, color Doppler US, contrast-enhanced US (CEUS), US elastography, FNA biopsy assessment, and the recent introduction of molecular testing. The potential of artificial intelligence in thyroid US is also discussed.

A unique posterior nutcracker syndrome combined with Wilkie syndrome: A singular case.

Left renal vein variants are not commonly observed in the general population. Usually, the renal vein runs in front of the aorta before entering the inferior vena cava, while the most common variants include the presence of a circumaortic or retroaortic renal vein. However, when present, left venal rein variants are important to recognize due to their potential clinical and surgical relevance. In this regard, CE-CT is an instrument with high sensitivity and specificity in detecting vascular anomalies and can certainly help diagnose. In this article, we present a unique case of a left venal rein compressed between the left iliac artery and vertebral bodies associated with the presence of a superior mesenteric artery Syndrome, another rare entity that occurs when the duodenum is compressed between the aorta and the superior mesenteric artery.

Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients.

Background: type 1 neurofibromatosis (NF1) is the most common neurocutaneous disorder, and it is an inherited condition that causes a tumour predisposition. Central nervous system (CNS) manifestations are a significant cause of morbidity and mortality in NF1. We provide a pictorial review of neuroradiological features of NF1, with emphasis on magnetic resonance imaging (MRI), and we assess the frequency of those features on a cohort of NF1 patients. Methods: we retrospectively evaluated all patients with a diagnosis of NF1 who underwent MRI of the spine and brain in our centre over a period of almost 5 years. A total of 74 patients were enrolled, 28 males and 46 females, with a mean age of 21 ± 12.67 years. The frequency of CNS manifestations encountered in our cohort of NF1 patients was assessed and compared with the data found in other studies published in the literature. Results: many of our findings were in line with the literature, and possible interpretations for those that turned out to be different were suggested in the discussion. Conclusion: imaging plays a central role in the diagnosis and management of NF1, and the knowledge of CNS manifestations could be critical for its early detection and identification, such as for treatment planning and prognostic implications.

The Immunomodulatory Potential of Concurrent High-Dose Radiotherapy and Immune Checkpoint Inhibitor Cemiplimab in Advanced Cutaneous Squamous Cell Carcinoma: Initial Results.

In this retrospective case series, we investigate the synergistic effect and the immunomodulatory potential of combination radiotherapy and immunotherapy on 11 patients affected by locally advanced or metastatic cutaneous squamous cell carcinoma (CSCC), treated at our institution between 2020 and 2023. The primary endpoints of this study are objective tumor response, assessed by Immunotherapy Response Evaluation Criteria in Solid Tumors (iRECIST), and time to treatment failure (disease progression). In all patients, surgery was deemed not amenable, due to its potential functional and aesthetic impact. Therefore, upon multidisciplinary agreement, radiotherapy and immunotherapy with cemiplimab were alternatively administered. After 6 months, an early objective tumor response was observed in 9/11 patients, with 17/20 cutaneous lesions (85%) presenting either a complete or partial response. Only 2/11 patients, with a total of 3/20 cutaneous lesions (15%), had stable disease. These benefits persisted at a longer follow-up (21.4 ± 9.7 months), with no patients presenting disease progression. Despite the retrospective nature of this study and small sample size, our experience highlights the ability of concomitant radiotherapy and cemiplimab to promote an early objective response in patients with advanced CSCC. Moreover, in our population, the clinical benefits were also related to a longer progression-free survival, without any safety alert reported.

Prostate Artery Embolization as Minimally Invasive Treatment for Benign Prostatic Hyperplasia: An Updated Systematic Review.

Background/Objectives: Benign prostatic hyperplasia (BPH) has a significant impact on the quality of life of symptomatic patients. In patients manifesting lower urinary tract symptoms (LUTS), prostatic arterial embolization (PAE) has become a topic of interest in recent years. The purpose of this systematic review is to analyze and review techniques and clinical outcomes of patients who underwent endovascular treatment of BPH, with a special focus on the comparison of surgical and endovascular procedures. Methods: Through the major scientific databases, 1225 articles were selected from the initial research utilizing specific keywords and medical subject headings. Based on the inclusion and exclusion criteria established for selecting relevant studies for our purposes, the systematic analysis of the literature was conducted on a total of seven articles. Results: We collected data on 718 male patients (408 patients underwent PAE and 310 received TURP). The technical success rate varied from 86% to 100% for TAE and was 100% for TURP. During a 12-month follow-up period, both PAE and TURP were comparable on the reduction in IPSS and QoL questionnaire, while TURP showed significant improvements in Qmax and in the reduction in prostate volume. Length and cost of hospitalization were lower for PAE. Complication and adverse events rates were higher in the TURP group rather than in the PAE group (60.6% vs. 35.5%). Conclusions: Prostatic artery embolization represents an emerging minimally invasive procedure for BPH. According to previously released clinical studies, quality-of-life and urological symptom scores of the PAE group were comparable to those of the TURP group. Our research strengthens the evidence supporting the effectiveness and safety of PAE as a therapy for LUTS related to BPH.

Beyond the bowel: Wernicke's encephalopathy as a neurological complication of Crohn's disease: A case report.

Wernicke encephalopathy (WE) is a rare but severe neurological syndrome characterized, in its classic form, by the acute onset of ocular disturbances, ataxia, and cognitive impairment. It is caused by a deficiency of thiamine (vitamin B1) and mainly affects chronic alcoholics, although it can also affect patients with pathologies that lead to malnutrition. We present a case of a 58-year-old woman, who presented with significant weight loss over the past 6 months and who came to the emergency department for episodes of repetitive vomiting and a sleepy state. The patient underwent blood chemistry tests and a brain CT scan, which revealed symmetrical and bilateral hypodensity of the medial portion of the thalamus, tectal plate, and periaqueductal gray matte, suggestive of WE. She was subsequently referred to the Department of Neurology and underwent a brain MRI, which confirmed the clinical suspicion. She also had an abdominal CT scan and ileo-colonoscopy and was diagnosed with Crohn's disease. Immediately after the clinical diagnosis of WE, a replacement therapy based on intravenous thiamine at high doses was promptly set up, and the patient improved from a clinical point of view. Wernicke encephalopathy can be difficult to diagnose when it occurs in non-alcoholic patients; WE associated with IBD is a rare condition, and it can present with atypical and more subtle symptoms. Radiologists and physicians must be aware of this condition and imaging findings for rapid diagnosis and treatment.

Renal extramedullary hematopoiesis as an epiphenomenon of bone marrow dysfunction in a patient with primary myelofibrosis: A rare case report.

Extramedullary hematopoiesis represents a clinical compensatory condition characterized by the growth of hematopoietic tissue outside the bone marrow. It can mainly occur in patient with myeloproliferative disorders where alteration or neoplastic invasion of the bone marrow causes ineffective production of blood cells with the recruitment of progenitrix blood cells in non-hematopoietic organs, including kidneys. Renal extramedullary hematopoiesis is a rare condition manifesting as parenchymal or perirenal soft tissue masses with different patterns mimicking neoplasms, infectious or vascular diseases. We describe a unique case of a patient affected by primary myelofibrosis underwent ultrasound and magnetic resonance examinations showing bilateral perirenal alterations to be related to hemopoietic tissue. We also focused on the pathophysiology of this condition with imaging correlation. The case we present emphasises the importance of recognising the main radiological features of renal extramedullary hematopoiesis. MR examination should become part of the diagnostic pathway of the patient with primary myelofibrosis.

Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.

[This corrects the article DOI: 10.3389/fneur.2023.1301147.].

Quantitative Diffusion-Weighted MR Imaging: Is There a Prognostic Role in Noninvasively Predicting the Histopathologic Type of Uveal Melanomas?

Histopathologically, uveal melanomas (UMs) can be classified as spindle cell, mixed cell and epithelioid cell type, with the latter having a more severe prognosis. The aim of our study was to assess the correlation between the apparent diffusion coefficient (ADC) and the histologic type of UMs in order to verify the role of diffusion-weighted magnetic resonance imaging (DWI) as a noninvasive prognostic marker. A total of 26 patients with UMs who had undergone MRI and subsequent primary enucleation were retrospectively selected. The ADC of the tumor was compared with the histologic type. The data were compared using both one-way analysis of variance (ANOVA) (assessing the three histologic types separately) and the independent t-test (dichotomizing histologic subtypes as epithelioid versus non-epithelioid). Histologic type was present as follows: the epithelioid cell was n = 4, and the spindle cell was n = 11, the mixed cell type was n = 11. The mean ADC was 1.06 ± 0.24 × 10-3 mm2/s in the epithelioid cells, 0.98 ± 0.19 × 10-3 mm2/s in the spindle cells and 0.96 ± 0.26 × 10-3 mm2/s in the mixed cell type. No significant difference in the mean ADC value of the histopathologic subtypes was found, either when assessing the three histologic types separately (p = 0.76) or after dichotomizing the histologic subtypes as epithelioid and non-epithelioid (p = 0.82). DWI-ADC is not accurate enough to distinguish histologic types of UMs.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype-phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management.

Radiotherapy of Orbital and Ocular Adnexa Lymphoma: Literature Review and University of Catania Experience.

Orbital and ocular adnexa lymphomas are rare neoplasms confined to the orbital region. The prognosis is generally favorable, with a high proportion of localized disease, indolent clinical course, prolonged disease-free intervals, and low lymphoma-related mortality rate. We report our experience on eleven patients with confirmed histological diagnosis of lymphoma stage IE-IIE, treated between 2010 and 2021 with radiotherapy alone or in association with chemotherapy or immunotherapy. Eight patients were treated with primary radiotherapy only, while three received previous systemic treatments. Six patients were treated with Proton beam therapy (PBT), and five with external beam radiotherapy (EBRT). The five-year local control rate was 98%; only one patient developed an out-of-field recurrence. We also conducted a comprehensive literature review using electronic databases (PubMed, EMBASE, and Cochrane Library). Articles were selected based on their pertinence to treatment of the ocular and adnexal lymphoma focusing on radiotherapy techniques (electron beam radiotherapy, photon beam radiotherapy, or proton beam radiotherapy), treatment total dose, fractionation schedule, early and late radio-induced toxicities, and patient's clinical outcome. Radiotherapy is an effective treatment option for orbital lymphoma, especially as standard treatment in the early stage of orbital lymphoma, with excellent local control rate and low rates of toxicity.

New Technologies in the Assessment of Carotid Stenosis: Beyond the Color-Doppler Ultrasound-High Frame Rate Vector-Flow and 3D Arterial Analysis Ultrasound.

Atherosclerotic plaque in the carotid artery is the main cause of ischemic stroke, with a high incidence rate among people over 65 years. A timely and precise diagnosis can help to prevent the ischemic event and decide patient management, such as follow up, medical, or surgical treatment. Presently, diagnostic imaging techniques available include color-Doppler ultrasound, as a first evaluation technique, computed tomography angiography, which, however, uses ionizing radiation, magnetic resonance angiography, still not in widespread use, and cerebral angiography, which is an invasively procedure reserved for therapeutically purposes. Contrast-enhanced ultrasound is carving out an important and emerging role which can significantly improve the diagnostic accuracy of an ultrasound. Modern ultrasound technologies, still not universally utilized, are opening new horizons in the arterial pathologies research field. In this paper, the technical development of various carotid artery stenosis diagnostic imaging modalities and their impact on clinical efficacy is thoroughly reviewed.

Congenital and acquired anomalies of the basilar artery: A pictorial essay.

INTRODUCTION: The basilar artery is one of the two cases in our body where an arterial vessel is formed by the union of two others - the vertebral arteries. It provides vascular supply to essential structures for the main vital functions; the posterior cerebral arteries originate from it as terminal branches, and form part of the anastomotic circle of Willis. IMAGING FINDINGS: Congenital and acquired anomalies of the basilar trunk are described. We provide a schematic and detailed representation of normal anatomical variants - mainly represented by the fenestrated basilar artery or the persistence of carotid-basilar anastomosis; course anomalies are also illustrated, with reference to neuro-vascular conflicts and dolichoectasia. Among congenital anomalies, this pictorial review also shows the variants of the basilar origin, such as in the case of basilar trunk arising from only one of the two vertebral arteries, and the calibre changes - which are represented by aneurysm and hypoplasia. The latter appears to be a risk factor for posterior circulation stroke, when associated with a bilateral posterior foetal variant.Among the acquired forms, this pictorial essay describes some clinical cases of dissections, non-congenital aneurysms, thrombosis and tumour with vascular encasing or compression of basilar artery. CONCLUSION: CT angiography and MRI allow us to study the posterior intracranial circulation in detail, providing useful pre-treatment information. Therefore, knowledge of congenital or acquired anomalies of the basilar artery is essential for radiologists, neuroradiologists and neurosurgeons.

Neuroimaging features of WOREE syndrome: a mini-review of the literature.

The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral cortex, brain stem, thyroid, hypophysis, and reproductive organs. It plays a crucial role in the biology of the central nervous system, and it is involved in neuronal development, migration, and proliferation. Biallelic pathogenic variants in WWOX have been associated with an early infantile epileptic encephalopathy known as WOREE syndrome. Both missense and null variants have been described in affected patients, leading to a reduction in protein function and stability. The most severe WOREE phenotypes have been related to biallelic null/null variants, associated with the complete loss of function of the protein. All affected patients showed brain anomalies on magnetic resonance imaging (MRI), suggesting the pivotal role of WWOX protein in brain homeostasis and developmental processes. We provided a literature review, exploring both the clinical and radiological spectrum related to WWOX pathogenic variants, described to date. We focused on neuroradiological findings to better delineate the WOREE phenotype with diagnostic and prognostic implications.

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.

Prune exopolyphosphatase 1 (PRUNE1) is a short-chain phosphatase that is part of the aspartic acid-histidine-histidine (DHH) family of proteins. PRUNE1 is highly expressed in the central nervous system and is crucially involved in neurodevelopment, cytoskeletal rearrangement, cell migration, and proliferation. Recently, biallelic PRUNE1 variants have been identified in patients with neurodevelopmental disorders, hypotonia, microcephaly, variable cerebral anomalies, and other features. PRUNE1 hypomorphic mutations mainly affect the DHH1 domain, leading to an impactful decrease in enzymatic activity with a loss-of-function mechanism. In this review, we explored both the clinical and radiological spectrum related to PRUNE1 pathogenic variants described to date. Specifically, we focused on neuroradiological findings that, together with clinical phenotypes and genetic data, allow us to best characterize affected children with diagnostic and potential prognostic implications.

Contrast Enhanced Ultrasound Compared with MRI and CT in the Evaluation of Post-Renal Transplant Complications.

Renal transplantation (RT) is the treatment of choice for end-stage renal disease, significantly improving patients' survival and quality of life. However, approximately 3-23% of patients encounter post-operative complications, and radiology plays a major role for their early detection and treatment or follow-up planning. CT and MRI are excellent imaging modalities to evaluate renal transplant post-operative course; nevertheless, they are both associated with a high cost and low accessibility, as well as some contraindications, making them not feasible for all patients. In particular, gadolinium-based contrast can lead to the rare condition of nephrogenic systemic fibrosis, and iodine-based contrast can lead to contrast-induced nephropathy (CIN). CT also exposes the patients who may require multiple examinations to ionizing radiation. Therefore, considering the overall advantages and disadvantages, contrast-enhanced ultrasound (CEUS) is presently considered an effective first-line imaging modality for post-operative early and long-term follow-up in RT, reducing the need for biopsies and providing adequate guidance for drainage procedures. Hence, this paper aims to review the updated knowledge on CEUS compared with CT and MRI for the evaluation of RT renal transplant complications; advantages, limitations, and possible recommendations are provided.

Artificial Intelligence for Thyroid Nodule Characterization: Where Are We Standing?

Machine learning (ML) is an interdisciplinary sector in the subset of artificial intelligence (AI) that creates systems to set up logical connections using algorithms, and thus offers predictions for complex data analysis. In the present review, an up-to-date summary of the current state of the art regarding ML and AI implementation for thyroid nodule ultrasound characterization and cancer is provided, highlighting controversies over AI application as well as possible benefits of ML, such as, for example, training purposes. There is evidence that AI increases diagnostic accuracy and significantly limits inter-observer variability by using standardized mathematical algorithms. It could also be of aid in practice settings with limited sub-specialty expertise, offering a second opinion by means of radiomics and computer-assisted diagnosis. The introduction of AI represents a revolutionary event in thyroid nodule evaluation, but key issues for further implementation include integration with radiologist expertise, impact on workflow and efficiency, and performance monitoring.

Thyroid Nodule Characterization: How to Assess the Malignancy Risk. Update of the Literature.

Ultrasound (US) is the first imaging modality for thyroid parenchyma evaluation. In the last decades, the role of ultrasound has been improved with the introduction of new US software, such as contrast-enhanced ultrasound (CEUS) and US-elastography (USE). USE is nowadays recognized as an essential part of the multiparametric ultrasound (MPUS) examination, in particular for the indeterminate thyroid nodule with possible fine-needle aspiration cytology (FNAC) number reduction; even if further and larger studies are needed to validate it. More controversial is the role of CEUS in thyroid evaluation, due to its high variability in sensitivity and specificity. Semi-automatic US systems based on the computer-aided diagnosis (CAD) system are producing interesting results, especially as an aid to less experienced operators. New knowledge on the molecular mechanisms involved in thyroid cancer is allowing practitioners to identify new genomic thyroid markers that could reduce the number of "diagnostic" thyroidectomies. We have therefore drawn up an updated representation of the current evidence in the literature for thyroid nodule multiparametric ultrasound (MPUS) evaluation with particular regard to USE, the US CAD system and CEUS.

Role of CEUS in Vascular Pathology.

In recent years, the implementation of contrast-enhanced ultrasound (CEUS) in clinical practice has opened new horizons in the arterial pathologies research field, since this technique is able to supply new sets of data that can be crucial in patient management. The main applications of CEUS in the arterial system are the detection, characterization, and follow-up of carotid plaques and endoleaks after EVAR. Other situations in which CEUS was demonstrated to be a useful tool are large vessel vasculitis, dissections, and untreated aneurysms. In carotid atherosclerosis CEUS is not only able to acquire quantitative data about stenosis but also to perform a qualitative assessment of the plaque. The most important plaque features that CEUS is able to depict are ulceration, neovascularization, and the presence of inflammatory infiltrates. All of these factors contribute to plaque vulnerability. Thus, CEUS is crucial in order to allow better risk stratification and management of patients. In follow-up after EVAR, CEUS shows sensitivity and specificity values similar to CTA while ensuring several advantages, such as lower cost and the absence of ionizing radiation and nephrotoxic agents. Moreover, CEUS is able to offer real-time evaluation of endoleaks and thus is a useful tool in cases that are ambiguous on CTA. Most limitations are patient-related and are the same as in all other ultrasound techniques, such as high BMI and meteorism.