Objectives: The prevalence of thyroid nodules in adults, detected by ultrasound (US), is reported as high as 68%. US-guided fine-needle aspiration biopsy (FNAB) is the test of choice used to determine the nature of the nodules. However, not more than 15% are found to be malignant. Reducing the number of unnecessary FNAB while identifying clinically significant malignant nodules is imperative. There are several guidelines suggested for risk stratification of thyroid nodules by US. The aim of our study was to validate and compare Thyroid Imaging Reporting and Data System (TIRADS) American College of Radiology (ACR) and American Thyroid Association (ATA) risk stratification, specifically pertaining to reduction of unnecessary biopsies. Material and Methods: The study included 281 nodules in 245 patients who underwent FNAB between May 2018 and June 2019. Statistical analysis was performed only on 235 nodules that according to the TIRADS ACR and/ or ATA guidelines were eligible for FNAB. Data collected included nodule characteristics with corresponding TIRADS and ATA grading and cytological results using Bethesda scoring. Results: An agreement was found between the two criteria methods in 58.2% (137/235) of the cases. In 35.3% (83/235), ATA recommended FNAB while TIRADS did not. The specificity for ATA criteria was 7% (15/221) and for TIRADS was 37% (81/221). The sensitivity was 100% (14/14) for ATA and 86% (12/14) for TIRADS. Conclusion: Application of ACR TIRADS criteria can reduce the number of US-guided FNAB performed on benign nodules compared to ATA criteria, by 35%, with a cost of only two missed carcinomas that remained on further follow-up.

Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome sequencing for 124 patients with polymicrogyria and identified de novo ATP1A3 variants in eight patients. Mutated ATP1A3 causes functional brain diseases, including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP), and cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural deafness (CAPOS). However, our patients showed no clinical features of AHC, RDP, or CAPOS and had a completely different phenotype: a severe form of polymicrogyria with epilepsy and developmental delay. Detected variants had different locations in ATP1A3 and different functional properties compared with AHC-, RDP-, or CAPOS-associated variants. In the developing cerebral cortex of mice, radial neuronal migration was impaired in neurons overexpressing the ATP1A3 variant of the most severe patients, suggesting that this variant is involved in cortical malformation pathogenesis. We propose a previously unidentified category of polymicrogyria associated with ATP1A3 abnormalities.

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Objectives: Renal ultrasound (US) is widely used for diagnosing renal pathologies, though few of them, such as obstructive uropathy, require emergent urological intervention. During on-call hours, when medical staff is limited, it is important to prioritize which renal US examinations will be done. The aim of this study was to evaluate patient risk factors to predict the necessity of emergent renal US in the emergency department (ED). Material and Methods: All adult patients referred for renal US from the ED, during on-call hours from May 2015 to April 2017, were retrospectively included. The mean age was 64 years (18–98). Data were collected from the patients’ medical records. Urological intervention performed within the first 24 h following the US examination was recorded. Multivariate analysis was performed. Results: About 66% of the patients did not have a permanent urethral catheter, history of renal stones, or known abdominal or pelvic mass. None of these patients required an urgent urological intervention. The receiver operating characteristic curve was calculated at 0.883, 95% CI (0.84–0.92). Conclusion: Using only three variables, we can greatly reduce the number of renal US examinations done at on-call hours allowing for prioritization of only the necessary examinations.