Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family

Head and neck paragangliomas are the most common clinical features of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation. The clinical management of this syndrome is still unclear. In this study we propose a diagnostic algorithm for SDHD mutation carriers based on our family case series and literature review. After genetic diagnosis, first evaluation should include biochemical examination and whole-body imaging. In case of lesion detection, nuclear medicine examination is required for staging and tumor characterization. The study summarizes the diagnostic accuracy of different functional imaging techniques in SDHD mutation carriers. 18F-3,4-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)-computed tomography (CT) is considered the gold standard. If it is not available, 123I-Metaiodobenzylguanidine (MIBG) could be used also for predicting response to radiometabolic therapy. 18F-fluoro-2-deoxy-D-glucose (18F-FDG) PET-CT has a prognostic role since high uptake identifies more aggressive cases. Finally, 68Ga-peptides PET-CT is a promising diagnostic technique, demonstrating the best diagnostic accuracy in our and in other published case series, even if this finding still needs to be confirmed in larger studies. Periodic follow-up should consist of annual biochemical and ultrasonographic screening and biannual magnetic resonance examination to identify biochemical silent tumors early

Narrative review of multiparametric ultrasound in parotid gland evaluation

Disorders affecting parotid gland represent a heterogeneous group comprising congenital, inflammatory and neoplastic diseases which show a focal or diffuse pattern of appearance. The differentiation of neoplastic from non-neoplastic conditions of parotid glands is pivotal for the diagnostic imaging. Frequently there is evidence of overlapping between the clinical and the imaging appearance of the various pathologies. The parotid gland is also often object of study with the combination of different techniques [ultrasound-computed tomography-magnetic resonance imaging (US-CT-MRI), ex.]. Compared to other dominant methods of medical imaging, US has several advantages providing images in real-time at lower cost, and without harmful use of ionizing radiation and of contrast enhancement. B-mode US, and the microvascular pattern color Doppler are usually used as first step evaluation of parotid lesions. Elastography and contrast-enhanced US (CEUS) has opened further possible perspectives to improve the differentiation between benign and malignant parotid lesions. The characterization of the parotid tumors plays a crucial role for their treatment planning and for the prediction of possible surgical complications. We present, here an updated review of the most recurrent pathologies of parotid gland focusing on the diagnostic power of multiparametric US including CEUS and ultrasound elastography (USE); limitations, advantages and the main key-points will be presented

Multiparametric ultrasound evaluation of a case of bilateral carotid body tumor

Paragangliomas are a rare form of highly vascularized tumors that originate from paraganglia Baysal (J Med Genet 39: 617-622, 2002). In the head and neck PGL arise primarily in four distinct areas: vagal, middle ear, and larynx and more frequently carotid bifurcation. Imaging evaluations include sonography, color Doppler, US-elastosonography and contrast-enhanced ultrasound (CEUS). Additionally, Computed Tomography, Magnetic Resonance Imaging (MRI) as well as digital subtraction angiography can be performed Stoeckli et al. (Laryngoscope 112: 143-146, 2002). We present herein a case of a rare bilateral carotid body tumor assessed with multiparametric ultrasound evaluation, including CEUS and US-elastography

Evaluation of plantar fasciopathy shear wave elastography: a comparison between patients and healthy subjects

Purpose The aim of this study is to compare elasticity features between patients with plantar fasciitis (PFis) and an asymptomatic healthy control group using shear wave elastography (SWE) and to correlate SWE values with clinical scores. Methods Consecutive patients diagnosed with PFis and asymptomatic subjects were enrolled in the present study. Both groups underwent clinical, ultrasound (US), and SWE evaluation. A plantar fascia thickness > 4 mm was considered pathognomonic of PFis. SWE stiffness elasticity (Young's modulus in kPa and shear wave velocity in m/s) was measured 1 cm distally from the calcaneal insertion. Correlations with VAS and the 17-Italian Foot Function Index (17-FFI) were determined. Results A total of 19 patients satisfied the inclusion criteria for the patient group and were enrolled in the study, and 21 healthy subjects were used as a control group. Statistically significant differences were found for shear wave velocity between the patient and the control group, with SWE findings of 3.8 (5.1; 1.5) m/s and 4.7 (4.07; 7.04) m/s, respectively (p = 0.006). Strong positive correlations were found between the SWE findings and both the pain and the functional scale (VAS: p = 0.001; FFI: p = 0.012). Conclusion SWE allows quantitative assessment of the stiffness of the plantar fascia and can show PFis alterations, increasing the diagnostic performance of B-mode US. In addition, SWE shows a strong correlation with clinical scores, improving patient assessment and follow-up

Nonalcoholic fatty liver disease and diabetes

Nonalcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disease in the world and represents a clinical-histopathologic entity where the steatosis component may vary in degree and may or may not have fibrotic progression. The key concept of NAFLD pathogenesis is excessive triglyceride hepatic accumulation because of an imbalance between free fatty acid influx and efflux. Strong epidemiological, biochemical, and therapeutic evidence supports the premise that the primary pathophysiological derangement in most patients with NAFLD is insulin resistance; thus the association between diabetes and NAFLD is widely recognized in the literature. Since NAFLD is the hepatic manifestation of a metabolic disease, it is also associated with a higher cardio-vascular risk. Conventional B-mode ultrasound is widely adopted as a first-line imaging modality for hepatic steatosis, although magnetic resonance imaging represents the gold standard noninvasive modality for quantifying the amount of fat in these patients. Treatment of NAFLD patients depends on the disease severity, ranging from a more benign condition of nonalcoholic fatty liver to nonalcoholic steatohepatitis. Abstinence from alcohol, a Mediterranean diet, and modification of risk factors are recommended for patients suffering from NAFLD to avoid major cardiovascular events, as per all diabetic patients. In addition, weight loss induced by bariatric surgery seems to also be effective in improving liver features, together with the benefits for diabetes control or resolution, dyslipidemia, and hypertension. Finally, liver transplantation represents the ultimate treatment for severe nonalcoholic fatty liver disease and is growing rapidly as a main indication in Western countries. This review offers a comprehensive multidisciplinary approach to NAFLD, highlighting its connection with diabetes

US-elastography with different techniques for thyroid nodule characterization: systematic review and meta-analysis

Background: Thyroid nodules are frequent in adult population and thyroid cancer incidence has increased dramatically over the past three decades. The aim of this systematic review and meta-analysis was to evaluate the US-Elastosonography (USE) diagnostic performance in assessing the thyroid nodules malignancy risk. Methods: PubMed and Embase databases were searched from January 2011 to July 2021. We extracted data from selected studies and calculated the overall diagnostic accuracy of qualitative USE, semi-quantitative USE and quantitative USE. Summary receiver operating characteristic (ROC) curve was elaborated to show the results. All statistical tests were performed using Metadisc and Medcal software package. Results: Finally 72 studies with 13,505 patients and 14,015 thyroid nodules (33% malignant) undergoing elastography were included. The pooled sensitivity, specificity and AUC were 84%, 81%, and 0.89 respectively for qualitative USE; 83%, 80%, and 0.93 for semi-quantitative USE and 78%, 81% and 0.87, for quantitative USE. The qualitative and semiquantitative USE present very similar diagnostic accuracy values and both better than the quantitative USE. Conclusions: USE is a useful imaging tool for thyroid nodule characterization. In accordance with recent guidelines and meta-analyses, the USE could be used daily in thyroid nodule malignancy risk stratification. Systematic review registration: PROSPERO: CRD42021279257

Computer-aided diagnostic system for thyroid nodule sonographic evaluation outperforms the specificity of less experienced examiners

Purpose Computer-aided diagnosis (CAD) may improve interobserver agreement in the risk stratification of thyroid nodules. This study aims to evaluate the performance of the Korean Thyroid Imaging Reporting and Data System (K-TIRADS) classification as estimated by an expert radiologist, a senior resident, a medical student, and a CAD system, as well as the interobserver agreement among them. Methods Between July 2016 and 2018, 107 nodules (size 5-40 mm, 27 malignant) were classified according to the K-TIRADS by an expert radiologist and CAD software. A third-year resident and a medical student with basic imaging training, both blinded to previous findings, retrospectively estimated the K-TIRADS classification. The diagnostic performance was calculated, including sensitivity, specificity, positive and negative predictive values, and the area under the receiver operating characteristic curve. Results The CAD system and the expert achieved a sensitivity of 70.37% (95% CI 49.82-86.25%) and 81.48% (61.92-93.7%) and a specificity of 87.50% (78.21-93.84%) and 88.75% (79.72-94.72%), respectively. The specificity of the student was significantly lower (76.25% [65.42-85.05%], p = 0.02). Conclusion In our opinion, the CAD evaluation of thyroid nodules stratification risk has a potential role in a didactic field and does not play a real and effective role in the clinical field, where not only images but also specialistic medical practice is fundamental to achieve a diagnosis based on family history, genetics, lab tests, and so on. The CAD system may be useful for less experienced operators as its specificity was significantly higher