Imaging of ring-shaped lateral ventricular nodules (RSLVNs).

Ring-shaped lateral ventricular nodules (RSLVN) are small and round nodules attached on the ependyma of lateral ventricles with unknown nature. They are considered "leave me alone lesions" and differential diagnosis includes subependymal grey matter heterotopia, subependymomas, subependymal hamartomas, and subependymal giant cell astrocytomas. In this short article, we report imaging findings of RSLNVs discovered in five patients, underlining the pivotal role of neuroimaging in the diagnostic path.

Imaging assessment of deep neck spaces infections: an anatomical approach.

Despite the widespread use of antibiotics, deep neck infections are still a relevant clinical problem and can cause severe and potentially life-threatening complications. Imaging plays a pivotal role into the clinical management of deep neck infections, allowing identification of the source of infections, definition of the precise extension of the disease and early diagnosis of local or distant complications. The complex anatomy of deep neck spaces may hide the actual extent of disease: the knowledge of neck anatomy enables radiologists to rapidly evaluate expected routes of spread of infections and to effectively communicate crucial information to surgeons. Computed Tomography is the most used imaging modality for assessing primary site of infection, extent of disease and local complications. Magnetic resonance imaging may be used as a second level imaging modality for individuating intracranial or spinal complications. The present work aims to review the imaging of deep neck spaces infections, focusing on relevant anatomy and clinical scenarios, underlining practical teaching points for each of them. Familiarity with deep neck spaces anatomy and knowledge of most common routes of spread of infections allow the radiologist to make a prompt diagnosis and to look for early signs of potential complications.

High-Frequency Intraoral Ultrasound for Preoperative Assessment of Depth of Invasion for Early Tongue Squamous Cell Carcinoma: Radiological-Pathological Correlations.

The eighth edition of the TNM classification officially introduced "depth of invasion" (DOI) as a criterion for determining the T stage in tongue squamous cell carcinoma. The DOI is a well-known independent risk factor for nodal metastases. In fact, several experts strongly suggest elective neck dissection for tongue cancer with a DOI > 4 mm due to the high risk of early and occult nodal metastases. Imaging plays a pivotal role in preoperative assessments of the DOI and, hence, in planning the surgical approach. Intraoral ultrasound (IOUS) has been proposed for early-stage SCC of the oral tongue as an alternative to magnetic resonance imaging (MRI) for local staging. The aim of this work is to investigate the accuracy of IOUS in the assessment of the DOI in early oral SCC (CIS, pT1, and pT2). A total of 41 patients with tongue SCCs (CIS-T2) underwent a preoperative high-frequency IOUS. An IOUS was performed using a small-size, high-frequency hockey-stick linear probe. The ultrasonographic DOI (usDOI) was retrospectively compared to the pathological DOI (pDOI) as the standard reference. In patients who underwent a preoperative MRI, their usDOI, magnetic resonance DOI (mriDOI), and pDOI were compared. Specificity and sensitivity for the IOUS to predict a pDOI > 4 mm and to differentiate invasive and noninvasive tumors were also evaluated. A high correlation was found between the pDOI and usDOI, pDOI and mriDOI, and usDOI and mriDOI (Spearman's ρ = 0.84, p < 0.0001, Spearman's ρ = 0.79, p < 0.0001, and Spearman's ρ = 0.91, p < 0.0001, respectively). A Bland-Altman plot showed a high agreement between the usDOI and pDOI, even though a mean systematic error was found between the usDOI and pDOI (0.7 mm), mriDOI and pDOI (1.6 mm), and usDOI and mriDOI (-0.7 mm). The IOUS was accurate at determining the T stage (p < 0.0001). The sensitivity and specificity for the IOUS to predict a pDOI ≥4 mm were 92.31% and 82.14%, respectively, with an AUC of 0.87 (p < 0.0001). The specificity, sensitivity, negative predictive value (NPV), and positive predictive value (PPV) for the IOUS to predict an invasive cancer were 100%, 94.7%, 60%, and 100%, respectively. The AUC was 0.8 (95% CI 0.646-0.908, p < 0.0001). The IOUS was accurate in a preoperative assessment of a pDOI and T stage, and can be proposed as an alternative to MRI in the preoperative staging of tongue SCC.

Exploring Response to Immunotherapy in Non-Small Cell Lung Cancer Using Delta-Radiomics.

Delta-radiomics is a branch of radiomics in which features are confronted after time or after introducing an external factor (such as treatment with chemotherapy or radiotherapy) to extrapolate prognostic data or to monitor a certain condition. Immune checkpoint inhibitors (ICIs) are currently revolutionizing the treatment of non-small cell lung cancer (NSCLC); however, there are still many issues in defining the response to therapy. Contrast-enhanced CT scans of 33 NSCLC patients treated with ICIs were analyzed; altogether, 43 lung lesions were considered. The radiomic features of the lung lesions were extracted from CT scans at baseline and at first reassessment, and their variation (delta, Δ) was calculated by means of the absolute difference and relative reduction. This variation was related to the final response of each lesion to evaluate the predictive ability of the variation itself. Twenty-seven delta features have been identified that are able to discriminate radiologic response to ICIs with statistically significant accuracy. Furthermore, the variation of nine features significantly correlates with pseudo-progression.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy in one individual; and (iv) other phenotypes in individuals with mutation of KCNT1 included temporal lobe epilepsy, and epilepsy with tonic-clonic seizures and cognitive regression. Genotypic analysis of the whole cohort of 248 individuals showed only missense mutations and one inframe deletion in KCNT1. Although the KCNT1 mutations in affected individuals were seen to be distributed among the different domains of the KCNT1 protein, genotype-phenotype considerations showed many of the autosomal dominant or sporadic sleep-related hypermotor epilepsy-associated mutations to be clustered around the RCK2 domain in the C terminus, distal to the NADP domain. Mutations associated with EIMFS/non-EIMFS developmental and epileptic encephalopathies did not show a particular pattern of distribution in the KCNT1 protein. Recurrent KCNT1 mutations were seen to be associated with both severe and less severe phenotypes. Our study further defines and broadens the phenotypic and genotypic spectrums of KCNT1-related epileptic conditions and emphasizes the increasingly important role of this gene in the pathogenesis of early onset developmental and epileptic encephalopathies as well as of focal epilepsies, namely autosomal dominant or sporadic sleep-related hypermotor epilepsy.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Pathogenic variants in KCNT1 represent an important cause of treatment-resistant epilepsy, for which an effective therapy has been elusive. Reports about the effectiveness of quinidine, a candidate precision therapy, have been mixed. We sought to evaluate the treatment responsiveness of patients with KCNT1-related epilepsy. We performed an observational study of 43 patients using a collaborative KCNT1 patient registry. We assessed treatment efficacy based upon clinical seizure reduction, side effects of quinidine therapy, and variant-specific responsiveness to treatment. Quinidine treatment resulted in a > 50% seizure reduction in 20% of patients, with rare patients achieving transient seizure freedom. Multiple other therapies demonstrated some success in reducing seizure frequency, including the ketogenic diet and vigabatrin, the latter particularly in patients with epileptic spasms. Patients with the best quinidine response had variants that clustered distal to the NADP domain within the RCK2 domain of the protein. Half of patients did not receive a quinidine trial. In those who did, nearly half did not achieve therapeutic blood levels. More favorable response to quinidine in patients with KCNT1 variants distal to the NADP domain within the RCK2 domain may suggest a variant-specific response.