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Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.

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.

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. In den letzten Jahren hat der Einsatz des kontrastverstarkten Ultraschalls (CEUS) in der klinischen Praxis neue Horizonte auf dem Forschungsgebiet der arteriellen Pathologien eroffnet, da diese Technik neue Datensatze liefern kann, die von entscheidender Bedeutung fur das Patientenmanagement sein konnen. Die Hauptanwendungen von CEUS beim arteriellen System sind Nachweis, Charakterisierung und Verlaufskontrolle von Karotisplaques sowie von Endoleaks nach EVAR. Andere Falle, in denen sich CEUS als nutzliches Instrument erwiesen hat, betreffen die Vaskulitiden groser Gefase, Dissektionen und nicht behandelte Aneurysmen. Bei Arteriosklerose der A. carotis kann CEUS nicht nur quantitative Daten zur Stenose erfassen, sondern auch eine qualitative Beurteilung der Plaque durchfuhren. Die wichtigsten Plaque-Merkmale, die CEUS darstellen kann, sind Ulzeration, Neovaskularisation und das Vorhandensein von entzundlichen Infiltraten. Alle diese Faktoren tragen zur Vulnerabilitat der Plaque bei. Daher ist CEUS von entscheidender Bedeutung, um die Risikostratifizierung und das Management der Patienten zu verbessern. In der Nachsorge nach EVAR zeigt CEUS ahnliche Sensitivitats- und Spezifitatswerte wie die CTA und bietet gleichzeitig mehrere Vorteile, wie z. B. geringere Kosten sowie Verzicht auf Strahlenbelastung und auf nephrotoxische Substanzen. Daruber hinaus ermoglicht CEUS die Echtzeit-Evaluierung von Endoleaks, ein wertvolles Instrument fur Falle, in denen die CTA nicht eindeutig ist. Die meisten Einschrankungen sind patientenbezogen und bei allen anderen Ultraschalltechniken gleich, wie z. B. ein hoher BMI und Meteorismus.

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. 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. 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). 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.ZIEL: Evaluierung der diagnostischen Leistung der Strain-Elastografie (SE) und der 2D-Scherwellen-Elastografie (SWE) sowie der SE/SWE-Kombination im Vergleich zum konventionellen multiparametrischen Ultraschall (US) zur Verbesserung der Ergebnisse der BI-RADS-Klassifikation und zur Differenzierung benigner und maligner Brustläsionen mittels einer qualitativen und quantitativen Bewertung. In dieser prospektiven Studie wurden 130 histologisch nachgewiesene Raumforderungen der Brust mit Basis-US, Farbdoppler-Ultraschall (CDUS), SE und SWE (Toshiba Aplio 500 mit einem 7–15MHz-Breitband-Linearschallkopf) bewertet. Jede Läsion wurde nach dem BIRADS-Lexikon klassifiziert, indem die Größe, die B-Modus- und Farbdoppler-Merkmale, die qualitativen (Punkt-Farbskala) und semiquantitativen (Strain-Ratio) SE-Methoden sowie die quantitative SWE bewertet wurden. Die histologischen Ergebnisse wurden mit BI-RADS, Strain-Ratio (SR) und Scherwellen-Elastografie (SWE) verglichen, die alle von demselben Untersucher durchgeführt wurden, der zum Zeitpunkt der US-Untersuchung gegenüber der klinischen Untersuchung und den mammografischen Ergebnissen verblindet war. Die Fläche unter der ROC-Kurve (AUC) wurde berechnet, um die diagnostische Leistung von B-Mode-US, SE, SWE und deren Kombination zu bewerten. Die histologische Untersuchung ergab 47 gutartige und 83 bösartige Brustläsionen. Die Genauigkeit der SR war statistisch signifikant höher als bei der SWE (Sensitivität 89,2 vs. 72,3 %; Spezifität 76,6 vs. 66,0 %; AUC 0,83 vs. 0,69; p = 0,003), aber nicht höher als beim B-Modus-US (Sensitivität 85,5 %; Spezifität 78,8 %; AUC 0,821; p = 1,000). Nach unserer Erfahrung sind der konventionelle US in Kombination mit beiden, SE und SWE, gültige Methoden, die im klinischen Alltag nützlich sein können, um die Beurteilung der BI-RADS-Kategorie zu verbessern und die Differenzierung von gutartigen und bösartigen Brustläsionen zu unterstützen – bei höherer Genauigkeit der SE als der SWE.

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.

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families. Methods: To investigate the genetic cause of the disease, exome or genome sequencing were performed in 5 unrelated families identified via different research networks and Matchmaker Exchange. Deep clinical and brain imaging evaluations were performed by clinical pediatric neurologists and neuroradiologists. The functional effect of the candidate variant on both MED11 RNA and protein was assessed using reverse transcriptase polymerase chain reaction and western blotting using fibroblast cell lines derived from 1 affected individual and controls and through computational approaches. Knockouts in zebrafish were generated using clustered regularly interspaced short palindromic repeats/Cas9. Results: The disease was characterized by microcephaly, profound neurodevelopmental impairment, exaggerated startle response, myoclonic seizures, progressive widespread neurodegeneration, and premature death. Functional studies on patient-derived fibroblasts did not show a loss of protein function but rather disruption of the C-terminal of MED11, likely impairing binding to other MED subunits. A zebrafish knockout model recapitulates key clinical phenotypes. Conclusion: Loss of the C-terminal ofMED subunit 11 may affect its binding efficiency to otherMED subunits, thus implicating the MED-complex stability in brain development and neurodegeneration.

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.

The acronym CEUS refers to contrast-enhanced ultrasound techniques. In this chapter, we describe the composition, basic properties and physics behind currently available ultrasound contrast agents (UCAs). Today CEUS easily allows real-time recording and evaluation of the wash-in and wash-out phases of the UCA over several minutes. The main diagnostic features are vascular architecture (evaluated in the early wash-in phase) and contrast enhancement of the lesion compared to the adjacent tissue. Special care was taken to discuss artefacts, their appearance and how to avoid them. UCA application, specific imaging techniques (e.g. CEUS-guided interventions, paediatric patients and newborns, extravascular-intracavitary use and quantification) and safety issues are also discussed in depth.

High-resolution ultrasound (US), as a readily available, cost-effective and harmless imaging technique, is appropriately the initial imaging modality for salivary gland lesions. Benign tumors are reported to present with regular and well-defined margins, a homogeneous hypoechoic structure and demarcated vessel distribution, whereas malignant lesions are irregular, heterogeneous and diffusely perfused. Ultrasound and color Doppler features of benign and malignant salivary gland lesions overlap, and many benign tumors, particularly pleomorphic adenomas, may appear irregularly shaped, with a heterogeneous echo-structure indistinguishable from a malignant lesion. Often skilled US operators are not always able to differentiate benign from malignant lesions. The introduction of US contrast agents has allowed further perspectives in the possible improvement of lesion characterization, and the emergence of US elastography, an innovative tool for assessing lesion stiffness/elasticity characteristics, has been advocated for differentiating salivary gland lesions. When lesions are atypical on US, contrast-enhanced magnetic resonance (MR) imaging is usually the definitive imaging modality. We present a current review of benign and malignant parotid gland tumors with emphasis on the role of multiparametric US and MR imaging.

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).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.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 (P0.001), 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 (P0.02). 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) (P0.005) and this subgroup had higher SER values when compared to TNBCs showing a lower tumor grade (G1 and G2) (P=0.03).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.

Pseudotumor cerebri syndrome (PTCS) is defined by increased pressure of cerebrospinal fluid (CSF), with normal CSF contents and without any intracranial disease found on brain imaging. PTCS is a disease with a predilection for childbearing obese women, but it may also occur in children and in man. The most common symptoms include headache, double vision, transient visual obscuration, and pulsatile tinnitus. The reason for which patients with increased CSF pressure experience tinnitus is not clear, and only a few studies have focused on the etiology of this peculiar clinical feature in the context of PTCS presentation. Besides tinnitus, additional otologic manifestations in children with PTCS include aural fullness, low-frequency hearing loss, and vertigo; these symptoms altogether can easily mimic Meniere disease. We hereby present two girls, who presented tinnitus as the first clinical symptom of PTCS, prior to developing headache and visual anomalies, and speculate on a shared pathophysiologic basis for both PTCS and Meniere disease.

Pseudotumor cerebri syndrome (PTCS) is a clinical entity of unclear etiology characterized by raised intracranial pressure but normal cerebrospinal fluid contents and no associated anomalies evident in the brain parenchyma. Idiopathic intracranial hypertension, which is the primary (idiopathic) form of PTCS, generally affects adult obese females of childbearing age. Pediatric PTCS has been reported in association with various potential comorbidities, including chronic medical illness, infections, endocrine disorders, and ingestion and/or withdrawal of some drugs. Clinical signs and symptoms of PTCS in children are heterogeneous, but they classically include headache, papilledema, and visual disturbances (e.g., diplopia and/or vision loss). An important criterion for diagnosing PTCS involves imaging. The role of computed tomography is useful to rule out some secondary causes of elevated increased intracranial pressure (e.g., hydrocephalus, hemorrhage, mass effect); magnetic resonance imaging and magnetic resonance venography are helpful in many diagnostic challenges and in the detection of subtle intracranial anomalies (e.g., isodense tumors, meningeal infiltrations, pathologies of posterior fossa, sinus venous thrombosis). In addition, magnetic resonance imaging is able to identify some secondary signs supportive of a diagnosis of PTCS, such as flattened posterior globe/sclera, empty sella, partially empty sella/decreased pituitary height, patulous optic nerve sheath, intraocular protrusion of optic nerve head, and enhanced and increased tortuosity of the optic nerve, though these are not specific. We briefly discuss the application of imaging in the assessment of pediatric PTCS patients.

Pseudotumor cerebri syndrome (PTCS) is characterized by increased intracranial pressure with normal cerebrospinal fluid components and no detectable anomalies of the brain parenchyma on magnetic resonance imaging. Presenting signs and symptoms are heterogeneous, but they commonly include headache, visual disturbances (i.e., vision loss and/or double vision), and papilledema. The etiology is uncertain, but several underlying risk factors associated with PTCS have been identified, including obesity, endocrine abnormalities (e.g., hyperaldosteronism, Cushing syndrome, hyperandrogenism, and Addison disease), medications (e.g., tetracycline, recombinant growth hormone therapy), and viral infections (e.g., chickenpox). Patients with postpubertal PTCS are more typically females in their reproductive age, thereby making crucial (although not fully understood) the role of female hormones in the pathophysiology of this condition. We describe two female patients with PTCS who were followed up at our institution. They experienced prompt (and full) remission of headache and visual disturbances during the first trimester of pregnancy and within the first 2 months after the onset of menarche (i.e., at 20 and 11 years of age), respectively. We reviewed the literature searching for similar cases and hypothesized on the pathophysiologic (and still unclear) involvement of female sex hormones in regulating intracranial pressure, making some patients prone to PTCS.

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.

Diagnostic ultrasound (US) images can be obtained from a quality device, in optimal working conditions, combined with the capable actions of the operator in tweaking the equipment’s characteristics. The quality assurance (QA) is the topic of this review article, and it is addressed in an US practice through proper selection of the equipment when purchasing, and through care and preventive maintenance of the machine for ensuring accurate performance. For optimal US system functioning, QA steps carried out on the basis of a scheduled program are needed in any US practice or department. It is critical to confirm in a semiannual or annual basis that the image quality is maintained according to standards and any subtle change in equipment’s functioning is detected and amended at an early stage. The use of test objects (also called US testing phantoms) is required above the basic level of QA testing. The scope of this review article is to inform the US user about necessary QA knowledge and at the same time, present the state of the art of the most suitable test methods for US QA. We referred to relevant publications, selected after performing a systematic literature search of the MEDLINE, EMBASE and COCHRANE databases, and also to the standards established by authoritative international societies.

Hashimoto encephalopathy is a syndrome of encephalopathy associated with elevated concentration of circulating serum anti-thyroid antibodies usually responsive to steroid therapy. We report a 13-year-old girl with Hashimoto encephalopathy and peripheral nervous system involvement. The child had experienced high-grade pyrexia, global headache and sleeplessness. After admission she had an ileus with a distended urinary bladder, hallucinations and cognitive impairment. She had reduced deep tendon reflexes and distal sensory deficiency. Anti-thyroglobulin antibodies were raised at 2121 IU/mL (normal, 0-40) and the anti-thyroperoxidase was high at 886 IU/mL (normal, 0-50). Progressive neurological and psychiatric remission was noted after i.v. methylprednisolone. Follow-up magnetic resonance imaging showed complete resolution of the foci of signal abnormality previously yielded. This case report is the first, to the best of our knowledge, to describe peripheral nervous system involvement in a child with a diagnosis of Hashimoto's encephalopathy.

Aims: To assess the diagnostic value of elasticity contrast index (ECI) elastography, in comparison with conventional ultrasound for the differentiation of benign and malignant parotid lesions. Material and methods: Sixty-three consecutive patients with parotid gland tumors, treated surgically at a single tertiary center were enrolled. Ultrasound evaluation consisted of B-mode, color-Doppler and quasistatic ultrasound elastography (USE), conducted with the ECI technique. For each lesion the echogenicity, margins, vascularization, and capsulation were considered to determine benign or malignant lesions. Histology was considered the gold standard. Results: Using conventional parameters, the observer suggested malignant lesions in 20 cases and benign lesions in 43 cases (accuracy: 61.8%). ECI>3.5 alone was the most accurate parameter (accuracy: 90.5%), with sensitivity of 93.7% and specificity of 89.4%. However, when combined with the other US criteria, no statistically significant diagnostic accuracy improvement was achieved. Conclusions: Our results show that USE with ECI index measurement can help to discriminate preoperatively benign from malignant lesions, with the exception of pleomorphic adenoma which is stiff. We suggest that USE can be used as an additional tool to conventional US evaluation of salivary gland lesions.

To evaluate the accuracy of ultrasound elastography with ElastoscanTM Core Index in the differential diagnosis of parathyroid lesions from ectopic thyroid nodules and lymph nodes. Seventy nine patients with repeatedly high levels of circulating intact parathyroid hormone, normal vitamin D and renal function tests, with an ultrasound scan showing a neck lesion, sharply demarcated from the thyroid lobules, were consecutively enrolled. Ultrasound with and without Color Doppler and ultrasound elastography were performed before histological examination. All ultrasound features, vascularization and ultrasound elastography diagnostic performance were assessed using ROC curves. Histological examination confirmed 47 parathyroid lesions, 18 thyroid ectopic nodules and 14 reactive lymph nodes. In distinguishing parathyroid from thyroid nodules, shape had a 100 % sensitivity (95 % CI 92.4–100) and 50 % specificity (95 % CI 37.2–64.7), cleavage had a 85.1 % sensitivity (95 % CI 72.3–92.6) and 77.8 % specificity (95 % CI 65.1–88) while peripheral vascularization had a sensitivity of 91.5 (95 % CI 79.6–97.6) and specificity of 72.2 (95 % CI 46.5–90.3). An ElastoscanTM Core Indexof 1.28 was 46 % sensitive (95 % CI 33.4–58.7) and 77 % specific (95 % CI 66.2–89.1) in discriminating parathyroid lesions from thyroid nodules. An ElastoscanTM Core Index of 1.0 was 78 % sensitive (95 % CI 65.1–88) and 71 % specific (95 % CI 56–81.3) in discriminating parathyroid lesions from lymph nodes (p = 0.045). An ElastoscanTM Core Index greater than 2.58 had a 100 % sensitivity (95 % CI 43.8–100) and 95.4 % specificity (95 % CI 38.3–99.7) in discriminating malignant from benign parathyroid nodules. ElastoscanTM Core Index was significantly higher in thyroid nodules than in reactive lymph nodes (1.18 ± 0.62, p = 0.008). The ultrasound features of cleavage and peripheral vascularization help to differentiate parathyroid from thyroid nodules. ElastoscanTM Core Index can improve ultrasound discrimination of parathyroid lesions from lymph nodes. The ElastoscanTM Core Index is significantly higher in malignant than in benign parathyroid lesions.

Background The aim of the study was to evaluate the diagnostic effectiveness of color Doppler ultrasound (CDUS) with superb microvascular imaging (SMI) compared to contrast-enhanced ultrasound (CEUS), computed tomography (CT) multislice angiography (64 slices), and angiography required for therapeutic reasons, for follow-up after endovascular aneurysm repair (EVAR). Methods From March 2014 to May 2015, 57 patients treated with EVAR were evaluated with CT, CEUS, CDUS, SMI, and angiography in cases requiring treatment. Evaluation included sac diameter, stent-graft integrity, identification, and classification of endoleaks. Sensitivity, specificity, accuracy, and negative and positive predictive values were evaluated for each modality of endoleak identification. Results Eight endoleaks (16.3%), all type II, were documented. Sensitivity of CT, CEUS, CDUS and SMI was 88%, 100%, 63%, and 75%, respectively. Specificity of CT, CEUS, CDUS, and SMI was 100%, 100%, 96%, and 98%, respectively With SMI, CDUS sensitivity significantly increased, whereas specificity did not register great differences. Conclusions SMI was more accurate than CDUS but less accurate than CEUS and CT to identify endoleaks after EVAR. SMI could be concretely used in the follow-up phase to increase CDUS accuracy especially in patients who cannot be studied with CEUS or CT.

High-resolution ultrasound is the first line examination for parotid gland diffuse disease and focal lesions, normally using grey-scale and colour-Doppler ultrasound. Unfortunately, grey-scale and colour-Doppler ultrasound features of benign and malignant salivary gland lesions may overlap, particularly with benign tumors, where pleomorphic adenomas are often indistinguishable from malignant lesions. With atypical lesions, contrast-enhanced magnetic resonance imaging is usually the second level imaging modality requested. The introduction of ultrasound contrast agents has opened further possible perspectives to improve the interpretation of parotid diseases, particularly the differentiation between benign and malignant lesions. We present a review of the current literature on contrast-enhanced ultrasound for the assessment of parotid gland lesions, considering all characteristics of the technique, evidence of usefulness, future perspectives and limitations.

Background Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i.e., Legg-Calve-Perthes-like disease) and disorders of autoimmunity (i.e., diabetes, thyroiditis). In 2014, Happle proposed to name the syndrome with the eponym Ruggieri-Leech syndrome. Methods Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us. Results The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy (n=4); hyperpneumatisation of the sinuses (n=2); hypoplastic brain vessels (n=4); colpocephaly and malformation of cortical development (n=2). Follow-up data on our previous 2 cases revealed that the vascular abnormalities in the skin and nervous system were stable over years without neurological progression or deterioration. Conclusions Pathogenically, this complex phenotype suggests that embryonic pairing and somatic recombination of recessive (didymotic) alleles controlling the balance between constriction (i.e., nevus anemicus) and dilatation (i.e., nevus telangiectaticus) of blood vessels could be the primary event causing the phenomena of cutaneous and brain vascular twin spotting and the paired phenomena of skull hyperpneumatisation vs. hypertrophy and brain megalencephaly/colpocephaly vs. cortical dysplasia. This association is likely more frequent than previously thought and should be investigated by means of: (I) brain and spinal cord imaging (combination of CT and MRI studies); (II) skeletal X-ray studies (when dictated by clinical findings); (III) systemic ultrasound studies; (IV) neurophysiologic studies (EEG); (V) psychomotor testing; (VI) and laboratory investigation (including immune-mediated dysfunction).

To evaluate the accuracy of contrast-enhanced ultrasound (CEUS) in comparison to CT angiography (CTA) to identify and classify endoleaks following abdominal aortic aneurism repair with endoprosthesis.A retrospective analysis of 181 patients treated with EVAR, from September 2009 to September 2014, was performed. Patients were evaluated with CEUS, CTA and angiography in the cases requiring treatment. Sac diameter, sac integrity, identification and classification of endoleaks were taken into consideration. Sensitivity, specificity, accuracy and negative predictive values were considered for each modality of endoleak identification.Forty-two endoleaks (23.2%; type II: 39 cases, type III: 3 cases) were documented. Sensitivity and specificity of CEUS and CT were, respectively, 97.6 and 90.5, 100 and 100%. In two cases, CEUS was able to better classify endoleaks compared to CT.CEUS accuracy to identify endoleaks following EVAR is similar to CT. CEUS should be considered as an effective modality for the long-term surveillance of EVAR because of its capability to correctly classify endoleaks with no ionizing radiation exposure.Valutare l’accuratezza dell’eco-contrastografia (CEUS), confrontandola con angiografia con tomografia computerizzata (CT) per l’identificazione degli endoleak dopo trattamento di aneurisma dell’aorta addominale con endoprotesi.Da Settembre 2008 a Dicembre 2014, 181 pazienti consecutivi trattati con EVAR sono stati valutati con CEUS, CTA, ed anche con angiografia nei casi da ritrattare. Sono stati valutati: diametro della sacca, valutazione dell’integrita della sacca, identificazione e classificazione degli endoleaks. Sensibilità, specificità, accuratezza e valore predittivo negativo sono stati valutati per ogni modalita nell’identificazione degli endoleak.Quarantadue endoleak (23.2%; tipo II: 39 casi, tipo III: 3 casi) sono stati documentati. La Sensibilita della CEUS e della TC e stata rispettivamente del 97.6, 90.5%, mentre la specificita per entrambe e stata del 100%. In due casi la CEUS e stata in grado di classificare meglio gli endoleak rispetto alla CT. La sacca aneurismatica presentava alla CEUS e CDUS un diametro massimo compreso tra 39-82 mm, mentre alla TC tra 38 e 78 mm, senza significativa differenza tra le due metodiche.L’accuratezza della CEUS nell’identificazione degli endoleak e nella misurazione della sacca dopo EVAR, e simile alla TC con maggiore sensibilita ma analoga specificita. La CEUS e da considerarsi una modalita efficace per la sorveglianza a lungo termine degli EVAR in quanto capace di classificare correttamente gli endoleak senza esposizione a radiazioni ionizzanti.

Pseudotumor cerebri syndrome (PTCS) is a condition of still obscure etiology, characterized by elevated cerebrospinal fluid (CSF) pressure but no detectable intracranial CSF compositional anomalies or abnormalities of the brain parenchyma. This syndrome generally affects adult obese individuals, especially females, but it has been frequently described also in the pediatric population. Pediatric PTCS has been reported in association with secondary factors (e.g., medical illness, infections, endocrine disturbances, drug intoxication) that seem to augment intracranial pressure in a still unexplained way. Clinical signs and symptoms of PTCS in children include headache and papilledema at the funduscopic examination. The diagnosis of PTCS in children and adults usually involves brain imaging to exclude intracranial mass and/or vascular anomalies; the lumbar puncture is also crucial to confirming elevated CSF pressure (>250 mm H 2 O) and, lately, normal CSF contents at the chemical-physical examination. In recent years, ultrasonography has acquired an emerging role in the initial assessment of patient suspected to have PTCS. In fact, ocular ultrasounds allow the detection of optic disc swelling, suggestive of papilledema; additionally, ultrasonography allows the measurement of the retrobulbar optic nerve sheath diameter, which has been proposed as a noninvasive (indirect) method to assess the intracranial pressure. Ultrasound examination of the optic disc may therefore represent an important adjunct to funduscopic examination when assessing children with headache and/or visual disturbances, especially in the setting of the emergency department. We briefly discuss the application of ultrasonography in the assessment of pediatric patients with PTCS.

Rapid maxillary expansion (RME) is an orthodontic procedure that separates the two maxillary bones at the mid palatine suture level. RME is commonly used in the pediatric age group to reduce and/or eliminate a transverse maxillary deficiency. At our institution we followed up an 11-year-old adolescent who was diagnosed with a class III malocclusion and was treated by RME with the combined use of expansion appliances (i.e., Hyrax) in addition to maxillary protraction devices (i.e., Delaire facemask). Three months after the start of treatment, he complained of headache and double vision, and was admitted to our hospital. A funduscopic examination revealed papilledema. Magnetic resonance imaging of the brain showed intraocular protrusion of the optic nerve head and enlarged perioptic subarachnoid space. Cerebrospinal fluid opening pressure during lumbar puncture was elevated (+370 mm H2O), confirming the diagnosis of the pseudotumor cerebri syndrome (PTCS). Removal of the maxillary expander and facemask led to the complete resolution of clinical symptoms in 1 week. The association of RME and PTCS-related manifestations was first reported by Timms in 1986, but, to the best of our knowledge, further cases have been not described in the medical literature. This overlooks PTCS as a potential RME-associated complication. We suggest that clinicians should carefully consider PTCS in all pediatric patients that complain of headache and/or visual disturbances during a treatment by RME. We also speculate on the possible changes of the cerebral venous circulation during RME, potentially leading to an impaired venous drainage that may cause increased intracranial pressure and PTCS.

Development of liver tumors and their evolution to hepatocellular carcinoma (HCC) is a multi-step process in which different HCC-etiologies induce continuous rounds of hepatocyte damage and regeneration. Over an extended time, this triggers cirrhosis which is a pathological state of the liver in which lesions can progress to become dysplastic nodules. Later, these nodules may evolve into HCC and occasionally generate metastatic events. To provide optimal care, patients with liver cancer should be managed using a multidisciplinary approach in specialized centers in which all the diagnostic and therapeutic resources are available. Among the different imaging modalities the introduction on contrast agents for ultrasound use has opened new further applications in different clinical settings. In fact, contrast enhanced ultrasound (CEUS) has been applied for more than ten years and plays increasingly important roles in the management of HCC. Since early 2000, international societies including the American Association for the Study of Liver Diseases (AASLD), the European Association for the Study of the Liver (EASL), the Asian Pacific association for the Study of the Liver (APASL), the Japanese society of Hepatology (JSH), the Italian society for the study of the liver (AISF), the World Federation for Ultrasound in Medicine and Biology (WFUMB), and the European Federation of Societies for Ultrasound in Medicine and Biology (EFUSMB) have discussed the important role of CEUS in the diagnosis of HCC. In the present review an update of the literature and a detailed discussion of the present Guidelines regarding the role of CEUS in the evaluation of nodules in cirrhotic patients is offered.