Citations

Summary: The lack of reliable seizure detection remains a significant challenge for epilepsy care. A clinical deep brain stimulation (DBS) system provides constrained ambulatory brain recordings; however, limited data exist on the use of DBS recordings for seizure detection and lateralization. We present the case of an 18-year-old patient with drug-resistant focal epilepsy, who had seizure detection and lateralization by DBS recordings. Prior stereotactic-EEG, including a thalamus lead, identified independent left orbitofrontal and mesial temporal onset seizures. Notably, low-frequency thalamic ictal power was significantly elevated relative to baseline awake and sleep states. The patient was subsequently implanted with an anterior nucleus of the thalamus DBS system. Postimplantation, low-frequency power-in-band (5.3–10.3 Hz) recordings were initiated. Nursing staff identified four typical clinical seizures during the inpatient DBS recording period. Thalamic DBS trends contained relative peaks that were coincident with each nurse-reported seizure. Peri-ictal power was uniformly maximal ipsilateral to the seizure network. This case demonstrates the feasibility of seizure detection and lateralization by a thalamic DBS system for some individuals, and suggests DBS sensing parameter selection may be guided by thalamic stereotactic EEG. Further research is necessary to assess the generalizability of DBS seizure detection across individuals and diverse seizure networks.

Abstract Adult primary leptomeningeal gliomatosis (PLG) is a rare, rapidly progressive and fatal disease characterized by prominent leptomeningeal infiltration by a glial tumor without an identifiable parenchymal mass. The molecular profile of adult PLG has not been well‐characterized. We report the clinical, pathological, and molecular findings of six adult PLG patients (five males and one female), median age 58 years. All cases exhibited pathological leptomeningeal enhancement at presentation. Leptomeningeal biopsy was diagnostic in five (of six) cases, revealing infiltration by an astrocytic glioma with mitotic activity, lacking microvascular proliferation or necrosis. One case was diagnosed at autopsy. All tumors were IDH‐wildtype, with five harboring TERT promoter mutations. Additional mutations identified were PTEN in one case, TP53 in two cases, and NF1 in two cases. A chromosome profile with +7/−10 was found in four cases, whereas the remaining two showed either chromosome 7 or 7p gain only. Four cases showed chromosome 9p loss with CDKN2A/B homozygous deletion, one case showed hemizygous CDKN2A/B loss, and one case showed intact chromosome 9 and CDK4/GLI1 amplification. DNA methylation profiling was performed in four cases and revealed a match to glioblastoma (GBM) family and mesenchymal typical class with high confidence scores in two cases; the other two cases showed only suggestive combined scores for GBM family and mesenchymal atypical class. The molecular profile of all cases closely aligned with that of adult‐type GBM, IDH‐wildtype, CNS WHO grade 4. All patients succumbed to the disease. In five cases with extensive leptomeningeal disease at diagnosis, the course was rapid, with median survival of 24 days following palliative care. Only one case, with relatively localized disease at diagnosis, received chemoradiation therapy and survived 535 days, raising the possibility that early diagnosis and timely treatment could improve outcome. A detailed list of previously reported cases is provided in a supplementary table.

Abstract Incidental findings in diagnostic imaging are common, but follow-up recommendations often lack consistency. The Society of Radiologists in Ultrasound (SRU) issued guidelines in 2021 for managing incidentally detected gallbladder polyps, aiming to balance follow-up with avoiding overtreatment. There is variable adherence to these guidelines in radiology reports, however, which makes it difficult for the clinician to pursue appropriate follow-up for the patient. The purpose of this project is to test the feasibility of a Large Language Model (LLM)–based tool to incorporate SRU guidelines into radiology reports. Additionally, we propose a framework for closely integrating societal follow-up recommendations into radiology reports, using this tool as an example. Following institutional review board approval, we retrospectively reviewed gallbladder ultrasound examinations performed on adult ED patients in 2022. Data on patient demographics and radiology report content were collected. Using the 2021 SRU guidelines, we developed an interactive tool employing a retriever-augmented generator (RAG) and prompt engineering. A board-certified radiologist tested the accuracy, whereas a board-certified emergency medicine physician assessed the clarity and consistency of the recommendations. The interactive tool, GB-PRL, outperformed leading closed-source and open-source LLMs, achieving 100% accuracy in risk categorization and follow-up recommendations on hypothetical user queries (P < 0.001). The tool also showed superior accuracy compared to radiology reports on retrospective data (P = 0.04). Although GB-PRL demonstrated greater clarity and consistency, the improvement from the radiology reports was not statistically significant (P = 0.22). Further work is needed for prospective testing of GB-PRL before integrating it into clinical practice.

ABSTRACT Objective To estimate the incidence, prevalence, patient characteristics and healthcare utilization patterns of moderate to severe thyroid eye disease (TED) in the United States. Design Retrospective review of medical and prescription claims data from the Inovalon deidentified claims database. Patients Patients with moderate to severe TED were identified based on specific and sensitive definitions using International Classification of Diseases (ICD) codes selected by a group of TED specialists. Results The incident moderate to severe TED population included 3364 and 1730 patients using the sensitive and specific definitions, respectively. After adjusting for age and gender, corresponding incidence rates in the sensitive and specific populations were 8.97 (13.49 in women and 4.27 in men) and 4.37 (6.59 in women and 2.05 in men) per 100,000 person‐years, respectively. The prevalent population included 16,310 and 8018 patients using the sensitive and specific definitions, respectively, corresponding to adjusted prevalence rates of 44.13 (66.00 in women and 21.39 in men) and 20.55 (31.18 in women and 9.50 in men) per 100,000 persons. A preponderance of women was observed, and comorbidity rates were high, with > 40% of prevalent patients experiencing hypertension. Steroids were the most frequently prescribed medication. The impact of teprotumumab was not captured, since this study only included claims data through 2019. Conclusions The estimated incidence and prevalence rates of TED demonstrate the considerable impact of this disease in the United States, making the creation of a specific ICD code imperative for effective healthcare planning and management.

Abstract Irritable bowel syndrome (IBS) is a chronic disorder of gut-brain interaction that impacts a significant portion of the population and is associated with substantial morbidity, reduced quality of life, and economic impact globally. The pathophysiology of IBS is complex and incompletely understood, and the heterogeneity of IBS is reflected in the variety of pharmaceutical and non-pharmaceutical therapies utilized for the management of IBS. Given limitations with pharmaceutical treatments, many patients with IBS seek non-pharmaceutical options. Several non-pharmaceutical treatments such as the low FODMAP diet and brain-gut behavior interventions such as gut directed hypnosis and cognitive behavioral therapy are now considered standard of care and are part of all major guidelines for the treatment of IBS. However, challenges with access to and optimal implementation of these therapies remain. This review focuses on the current evidence for common non-pharmaceutical treatments for IBS, including the latest advances in dietary and brain-gut behavioral care, in addition other complementary and integrative health practices and emerging therapies.