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Cryptogenic new‐onset refractory status epilepticus (cNORSE) is a devastating condition with unclear pathogenesis. Here, we analyzed the genetic underprints of 31 cNORSE patients from an autoimmune encephalitis observational cohort through whole‐genome sequencing. Compared to their controls, cNORSE patients exhibited elevated polygenic risk scores (PRS) for traits associated with autoimmune diseases. The individual PRS against these diseases were correlated with specific clinical phenotypes of cNORSE. The variants were enriched in genes expressed in the central nervous system and lymphocytes. These results suggest a shared genetic framework between cNORSE and other autoimmune/autoinflammatory diseases, and its involvement in the disease pathogenesis. ANN NEUROL 2024;96:1201–1208 [ABSTRACT FROM AUTHOR]

Objective: Leucine‐rich glioma‐inactivated 1 (LGI1)‐antibody encephalitis (LGI1e), the major form of autoimmune encephalitis (AE) presented with memory loss and faciobrachial dystonic seizure, commonly develops in aged population. Hematologic aging is often accompanied by clonal hematopoiesis (CH), a phenomenon in which specific mutations accumulate, potentially leading to autoimmune disorders or malignancies. Our research aimed to investigate the connection between clonal hematopoiesis of indeterminate potential (CHIP) and LGI1e. Methods: Peripheral blood samples from consecutive LGI1e patients were collected and analyzed for 24 clonal CHIP using targeted gene sequencing. The results were compared to a control dataset from an ethnically matched health care cohort. Patient characteristics were analyzed based on their CHIP status. Results: A total of 52 LGI1e patients were enrolled for this study. Among them, three patients (5.8%) exhibited functional mutations in the ASXL1 gene, one of the CHIP‐associated genes analyzed by targeted sequencing. This frequency was significantly higher compared to that of the control cohort (1%, p = 0.015). Nevertheless, the patients showed no difference in the clinical characteristics, laboratory results, and immunotherapy outcomes. Interpretation: LGI1e showed high frequency of ASXL1 functional mutation in the CHIP analysis, which may contribute to the underlying pathogenesis. Further research is needed to determine its direct role in the development of autoimmunity and disease progression. [ABSTRACT FROM AUTHOR]

Context The decision on diagnostic lobectomy for follicular neoplasms (FN) is challenging. Objective This meta-analysis investigates whether an appropriate size cutoff exists for recommending surgery for thyroid nodules diagnosed as FN by fine needle aspiration. Methods The Ovid-Medline, EMBASE, Cochrane, and KoreaMed databases were searched for studies reporting the malignancy rate of FN/suspicious for FN (FN/SFN) according to tumor size, using search terms " fine needle aspiration ," " follicular neoplasm ," " lobectomy ," " surgery ," and " thyroidectomy." Results Fourteen observational studies comprising 2016 FN/SFN nodules with postsurgical pathologic reports were included, and 2 studies included malignancy rates with various tumor sizes. The pooled malignancy risk of FN/SFN nodules according to size was: odds ratio (OR) 2.29 (95% CI, 1.68-3.11) with cutoff of 4 cm (9 studies), OR 2.39 (95% CI, 1.45-3.95) with cutoff of 3 cm (3 studies), and OR 1.81 (95% CI, 0.94-3.50) with cutoff of 2 cm (5 studies). However, tumors ≥2 cm also showed a higher risk (OR 2.43; 95% CI, 1.54-3.82) based on the leave-one-out meta-analysis after removal of 1 influence study. When each cutoff size was evaluated by summary receiver operating characteristic (sROC) curves, the cutoff of 4 cm showed the highest summary area under the curve (sAUC, 0.645) compared to other cutoffs (sAUC, 0.58 with 2 cm, and 0.62 with 3 cm), although there was no significant difference. Conclusion Although the risk of malignancy increases with increasing tumor size, the risk remains significant at all tumor sizes and no cutoff limit can be recommended as a decision-making parameter for diagnostic surgery in Bethesda IV thyroid nodules. [ABSTRACT FROM AUTHOR]

Simple Summary: Ultrasound (US) is commonly used as a guiding modality for radiofrequency ablation (RFA) in the treatment of small hepatocellular carcinomas (HCC). However, there are cases where small HCCs are infeasible for RFA under US guidance. In such situations, fluoroscopy-guided transarterial chemoembolization (TACE) combined with RFA (TACE + RFA) may be a potential alternative option. Nevertheless, the long-term effectiveness of TACE + RFA for small HCCs (≤3 cm) infeasible for US-guided RFA has not been thoroughly investigated. This study aimed to evaluate whether or not fluoroscopy-guided TACE + RFA provides comparable outcomes to those of general US-guided RFA. Propensity score (PS) matching analysis was performed, with the feasibility of US-guided RFA excluded from the matching process. The results showed that there were no significant differences in local tumor progression, intrahepatic distant recurrence, and recurrence-free survival between the two groups. Therefore, fluoroscopy-guided TACE + RFA appears to be an effective treatment option when US-guided RFA is not feasible. Objectives: This study aimed to evaluate the therapeutic outcomes of transarterial chemoembolization combined with radiofrequency ablation (TACE + RFA) for hepatocellular carcinomas (HCC) measuring ≤3 cm infeasible for ultrasound (US)-guided percutaneous RFA. Methods: Twenty-four patients who underwent fluoroscopy-guided TACE + RFA for single HCC between January 2012 and December 2016 were screened. To evaluate the TACE + RFA outcomes compared with those of US-guided RFA, 371 patients who underwent US-guided RFA during the same period were screened. We compared local tumor progression (LTP) and intrahepatic distant recurrence (IDR) between the two groups before and after propensity score (PS) matching, and performed univariable and multivariable Cox proportional hazard regression analyses for all patients. Results: PS matching yielded 21 and 42 patients in the TACE + RFA and US-guided RFA groups, respectively. Cumulative LTP rates after PS matching were not significantly different between the two groups at 1 (0.0% vs. 7.4%, p = 0.072), 2 (10.5% vs. 7.4%, p = 0.701), and 5 years (16.9% vs. 10.5%, p = 0.531). IDR rates did not differ significantly between the two groups at 1 (20.6% vs. 10%, p = 0.307), 2 (25.9% vs. 25.9%, p = 0.999), or 5 years (49.9% vs. 53%, p = 0.838). Multivariable analysis showed that treatment type was not a significant factor for LTP or IDR. Conclusion: The outcomes of TACE + RFA for HCC were similar to those of general US-guided RFA. Fluoroscopy-guided TACE + RFA may be an effective treatment when US-guided RFA is not feasible. [ABSTRACT FROM AUTHOR]

Radiofrequency ablation (RFA) of subphrenic hepatocellular carcinomas (HCCs) using ultrasound (US) guidance presents a challenge.To evaluate local tumor progression (LTP) and overall survival (OS) after RFA of right posterior subphrenic HCCs, and to identify the risk factors for LTP and OS after RFA.We screened patients who underwent US-guided RFA for a single HCC <3 cm in the right posterior subphrenic area. Cumulative rates of LTP and OS were compared between multiple- and single-electrode treatments and artificial pleural effusion versus no-effusion groups using Kaplan–Meier curves and the log-rank test. The risk factors for LTP and OS were assessed.A total of 36 patients were included. The cumulative 5-year and 10-year LTP rates were 32.9% and 39.6%, respectively, and the corresponding OS rates were 72.2% and 48.7%, respectively. The multiple-electrode group had significantly lower cumulative LTP rates compared to the single-electrode group (P < 0.001). The group receiving artificial pleural effusion showed a trend towards lower LTP rates than the no-effusion group (P = 0.076). The albumin-bilirubin (ALBI) grade was the only risk factor for LTP (hazard ratio [HR] = 4.17, 95% confidence interval [CI] = 1.26–14.55; P = 0.020). A lower albumin level was a risk factor for mortality (HR = 0.24, 95% CI = 0.07–0.79; P = 0.020).US-guided RFA with multiple electrodes and artificial pleural effusion tends to be linked with lower LTP rates. The ALBI grade and serum albumin level are risk factors for LTP and OS, respectively. [ABSTRACT FROM AUTHOR]