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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

US-Elastography for Breast Lesion Characterization: Prospective Comparison of US BIRADS, Strain Elastography and Shear wave Elastography.

PURPOSE: To evaluate the diagnostic performance of strain elastography (SE) and 2 D shear wave elastography (SWE) and SE/SWE combination in comparison with conventional multiparametric ultrasound (US) with respect to improving BI-RADS classification results and differentiating benign and malignant breast lesions using a qualitative and quantitative assessment. MATERIALS AND METHODS: In this prospective study, 130 histologically proven breast masses were evaluated with baseline US, color Doppler ultrasound (CDUS), SE and SWE (Toshiba Aplio 500 with a 7-15 MHz wide-band linear transducer). Each lesion was classified according to the BIRADS lexicon by evaluating the size, the B-mode and color Doppler features, the SE qualitative (point color scale) and SE semi-quantitative (strain ratio) methods, and quantitative SWE. Histological results were compared with BIRADS, strain ratio (SR) and shear wave elastography (SWE) all performed by one investigator blinded to the clinical examination and mammographic results at the time of the US examination. The area under the ROC curve (AUC) was calculated to evaluate the diagnostic performance of B-mode US, SE, SWE, and their combination. RESULTS: Histological examination revealed 47 benign and 83 malignant breast lesions. The accuracy of SR was statistically significantly higher than SWE (sensitivity, specificity and AUC were 89.2 %, 76.6 % and 0.83 for SR and 72.3 %, 66.0 % and 0.69 for SWE, respectively, p = 0.003) but not higher than B-mode US (B-mode US sensitivity, specificity and AUC were 85.5 %, 78.8 %, 0.821, respectively, p = 1.000). CONCLUSION: Our experience suggests that conventional US in combination with both SE and SWE is a valid tool that can be useful in the clinical setting, can improve BIRADS category assessment and may help in the differentiation of benign from malignant breast lesions, with SE having higher accuracy than SWE.

Prospective Evaluation of Semiquantitative Strain Ratio and Quantitative 2D Ultrasound Shear Wave Elastography (SWE) in Association with TIRADS Classification for Thyroid Nodule Characterization.

PURPOSE: To evaluate the diagnostic performance of strain ratio elastography (SRE) and shear wave elastography (SWE) alone and in combination with Thyroid Imaging Reporting and Data System (TIRADS) classification parameters to improve differentiation between benign and malignant thyroid nodules. MATERIALS AND METHODS: In this prospective study benign (n = 191) and malignant (n = 52) thyroid nodules were examined with high-resolution ultrasound (US) features using the TIRADS lexicon and SRE semiquantitative and SWE quantitative findings using histology or cytology as the gold standard with a 12-month follow-up. Sensitivity (Se), specificity (Sp) and the area under the ROC curve (AUROC) were used to evaluate the diagnostic performance of each feature and combinations of the methods. RESULTS: TIRADS score showed a sensitivity of 59.6 %, a specificity of 83.8 % with an AUROC of 0.717, a PPV of 50.0 % and an NPV of 88.4 %. SRE yielded the highest performance with a sensitivity of 82.7 %, a specificity of 92.7 % with AUROC of 0.877, a PPV 75.4 % and an NPV of 95.2 %. SWE (kPa) had a sensitivity and specificity of 67.3 % and 82.7 %, respectively, with an AUROC of 0.750, a PPV of 51.5 % and an NPV of 90.3 %. Differences were significant for SRE only but not for SWE. CONCLUSION: Ultrasound elastography may improve thyroid nodule discrimination. In particular, SRE has a better performance than TIRADS classification, while their combination improves sensitivity.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.

Morphological and Semiquantitative Kinetic Analysis on Dynamic Contrast Enhanced MRI in Triple Negative Breast Cancer Patients.

RATIONALE AND OBJECTIVES: The aim of this study was to retrospectly investigate the association between different breast cancer (BC) immunohistochemical subtypes and morphological and semiquantitative kinetic analysis on breast magnetic resonance imaging (MRI) performed before surgery treatment. Specifically we aimed to assess MRI features of triple-negative breast cancer (TNBC) compared to the other BC subtypes (nTNBC). MATERIALS AND METHODS: Patients undergone to breast MRI and then diagnosed with BC by core-needle biopsy were included. The MRI morphological and kinetic features were studied. Parametric and non-parametric tests were used, as appropriate. RESULTS: Seventy-five BC patients were considered, 30 patients included in TNBC Group and 45 patients included in nTNBC Group. We found in TNBC Group a greater mean lesion size (P <0.001), a rim enhancement imaging (P=0.003), and a higher intratumoral signal intensity on T2-weighted images (P=0.03) with respect to nTNBC Group. We noticed that TNBC patients presented a lower grade of BPE when compared to the nTBC Group (P< 0.02). TNBC Group showed lower EPeak values (P=0.003) and higher SER values (P=0.02) with respect to the nTNBC Group. In addition, stratifying kinetics parameters according to the tumor grade, the TNBC Group presented higher tumor grade (G3) (P< 0.005) and this subgroup had higher SER values when compared to TNBCs showing a lower tumor grade (G1 and G2) (P=0.03). CONCLUSION: After validation by large-scale studies, the morphological and semiquantitative kinetic analysis on dynamic contrast enhanced MRI may help in the pretreatment risk stratification of patients with TNBC and in evidence-based clinical decision support.

Ultrasound and ultrasound-related techniques in endocrine diseases.

Ultrasound examination has become essential to evaluate morphology and size of several endocrine glands and detect the presence of lesions within these organs. Nevertheless, with the recent advances of ultrasound technology, we have opportunity to correlate the echostructure of thyroid, ovary, testis, parathyroids, etc. to their function. Thus, the ultrasound systems are in-office essential instruments for many clinical specialists. Herein we presented the most updated information about the use of ultrasound in specific endocrine-related issues, such as thyroid, parathyroid, adrenal gland, and testicle.