Faculty Bibliography

BACKGROUND AND OBJECTIVES/OBJECTIVE:-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function. METHODS:-containing 2q24.3 copy number variants (CNVs) were considered separately. We collected medical and developmental history from parents/caregivers and medical records. Adaptive function and behavior were characterized using functional classification system levels and Vineland Adaptive Behavior Scales-3 (VABS-3) Parent/Caregiver Form. We repeated analyses on individuals with variants known to result in gain-of-function (GOF, typically EO phenotypes) or loss-of-function (LOF, typically LO phenotypes). RESULTS:< 0.01). Analyses of individuals with confirmed GOF/LOF variants (n = 57) showed similar results to the EO/LO analyses. DISCUSSION/CONCLUSIONS:-related disorders is extremely broad. Phenotypic subgroups provide prognostic information and critically inform clinical trial design.

OBJECTIVES/OBJECTIVE:In mild traumatic brain injury, imaging biomarkers are needed to support clinical management. In four antecedent publications, we used two new (sodium and fingerprinting) and two established (spectroscopy and diffusion) MR techniques in a longitudinally followed patient cohort. Here we report final results and combine all data to determine which marker(s) from the four modalities offer the greatest utility for detecting injury and predicting outcomes. We also leverage the independent specificities offered by each modality to explore injury mechanisms. MATERIALS AND METHODS/METHODS:The longitudinal spectroscopy data were analysed to complete a full data set of proton (spectroscopy, fingerprinting, diffusion) and sodium MRI, acquired alongside symptomatic, cognitive, and functional assessments in 27 patients at 1, 3, and 12 months following injury. Twenty-three matched controls were scanned once. Testing for associations between nine MR markers and three outcome measures was standardized across the entire data set, and performed using Spearman correlations and logistic regression. RESULTS:from fingerprinting (marker of the cellular microenvironment). CONCLUSIONS:We identified independent, dynamic, metabolic and ionic changes, with choline and creatine from spectroscopy fulfilling the most criteria for a clinical biomarker.

OBJECTIVE:Central to the development of novel antiseizure medications (ASMs) is testing of antiseizure activity in preclinical models. Although various well-established models exist, their predictive validity across the spectrum of clinical epilepsies has been less clear. We sought to establish the translational concordance of commonly used preclinical models to define models with the highest predictive clinical validity for focal onset seizures (FOS). METHODS:The Praxis Analysis of Concordance (PAC) framework was implemented to assess the translational concordance between preclinical and clinical ASM response for 32 US Food and Drug Administration-approved ASMs. Preclinical ASM responses in historically used seizure models were collected. Protective indices based on reported median tolerability and median efficacy values were calculated for each ASM in each preclinical model. A weighted scale representing relative antiseizure effect was used to grade preclinical ASM response for each seizure model. Data depth was further scored based on the number of evaluated ASMs with publicly available data. Established reports of clinical ASM use in patients with FOS were similarly evaluated, and a weighted scale representing prescribing patterns and perceived efficacy was used to grade clinical ASM response. To assess the predictive validity of preclinical models, a unified translational scoring matrix was developed to assign a concordance score spanning the spectrum from complete discordance (-1) to complete concordance (1) between preclinical and clinical ASM responses. Scores were summed and normalized to generate a global translational concordance score. RESULTS:The preclinical models with the highest translational concordance and greatest data depth for FOS were rodent maximal electroshock seizure (MES), mouse audiogenic seizure, mouse 6 Hz (32 mA), and rat amygdala kindling. SIGNIFICANCE/CONCLUSIONS:The PAC-FOS framework highlights mouse MES, mouse audiogenic, and mouse 6 Hz (32 mA) as three acute seizure models consistently demonstrating high predictive validity for FOS. We provide a pragmatic decision tree approach to support efficient resource utilization for novel ASM discovery for FOS.

OBJECTIVES/OBJECTIVE:To investigate the associations between total and individual potato intake and risk of type 2 diabetes (T2D), estimate the effect on T2D risk of replacing potatoes with whole grains and other major carbohydrate sources, and conduct a dose-response and substitution meta-analysis of prospective cohort studies. DESIGN/METHODS:Prospective cohort study and dose-response meta-analysis of prospective cohort studies. SETTING/METHODS:Individual participant data from Nurses' Health Study (1984-2020), Nurses' Health Study II (1991-2021), and Health Professionals Follow-up Study (1986-2018). PARTICIPANTS/METHODS:205 107 men and women free of diabetes, cardiovascular disease, or cancer at baseline. MAIN OUTCOME MEASURE/METHODS:Incident type 2 diabetes. RESULTS:During 5 175 501 person years of follow-up, T2D was documented in 22 299 participants. After adjustment for updated body mass index and other diabetes related risk factors, higher intakes of total potatoes and French fries were associated with increased risk of T2D. For every increment of three servings weekly of total potato, the rate for T2D increased by 5% (hazard ratio 1.05, 95% confidence interval (CI) 1.02 to 1.08) and for every increment of three servings weekly of French fries the rate increased by 20% (1.20, 1.12 to 1.28). Intake of combined baked, boiled, or mashed potatoes was not significantly associated with T2D risk (pooled hazard ratio 1.01, 95% CI 0.98 to 1.05). In substitution analyses, replacing three servings weekly of potatoes with whole grains was estimated to lower T2D rates by 8% (95% CI 5% to 11%) for total potatoes, 4% (1% to 8%) for baked, boiled, or mashed potatoes, and 19% (14% to 25%) for French fries. In contrast, replacing total potatoes or baked, boiled, or mashed potatoes with white rice was associated with an increased risk of T2D. In a meta-analysis of 13 cohorts (587 081 participants and 43 471 diagnoses of T2D), the pooled hazard ratio for risk of T2D with each increment of three servings weekly of total potato was 1.03 (95% CI 1.02 to 1.05) and of fried potatoes was 1.16 (1.09 to 1.23). In substitution meta-analyses, replacing three servings weekly of total, non-fried, and fried potatoes with whole grains was estimated to lower the risk of T2D by 7% (95% CI 5% to 9%), 5% (3% to 7%), and 17% (12% to 22%), respectively. CONCLUSIONS:Higher intake of French fries, but not combined baked, boiled, or mashed potatoes, was associated with a higher risk of T2D. The T2D risk linked to potato intake seemed to depend on the food being replaced: replacing potato with whole grains was associated with lower risk, whereas replacing with white rice was associated with increased risk.

BACKGROUND:Sturge-Weber syndrome (SWS) is a congenital neurocutaneous disorder characterized by angiomas of the face, choroid, and leptomeninges. Seizures in these children often present within the first 2 years of life. SWS is typically unilateral, but bilateral SWS occurs in approximately 15% of cases. Bilateral SWS is associated with earlier seizure onset and poorer cognitive, developmental, and functional outcomes. More than half of children with SWS develop drug-resistant epilepsy requiring surgical intervention. Hemispherotomy has been established as a successful treatment for unilateral SWS, but resective surgery has traditionally not been considered a treatment option for patients with bilateral disease. OBSERVATIONS/METHODS:In this report, the authors present the cases of 4 children (7 months-2 years of age) with bilateral SWS and drug-resistant epilepsy with a unilateral electroencephalography predominance. After a multidisciplinary conference in each case, all children were successfully treated with unilateral hemispherotomy. These patients achieved prolonged periods of seizure freedom postoperatively, a better quality of life, and demonstrated improved developmental progress at long-term follow-up. LESSONS/CONCLUSIONS:This case series suggests that functional hemispherotomy may be a safe and effective therapeutic option for improving seizure burden in cases of bilateral drug-resistant SWS with asymmetric seizure burden. https://thejns.org/doi/10.3171/CASE25125.

BACKGROUND:The Chatbot Assessment Reporting Tool (CHART) is a reporting guideline developed to provide reporting recommendations for studies evaluating the performance of generative artificial intelligence (AI)-driven chatbots when summarizing clinical evidence and providing health advice, referred to as Chatbot Health Advice (CHA) studies. METHODS:CHART was developed in several phases after performing a comprehensive systematic review to identify variation in the conduct, reporting, and methodology in CHA studies. Findings from the review were used to develop a draft checklist that was revised through an international, multidisciplinary modified asynchronous Delphi consensus process of 531 stakeholders, three synchronous panel consensus meetings of 48 stakeholders, and subsequent pilot testing of the checklist. RESULTS:CHART includes 12 items and 39 subitems to promote transparent and comprehensive reporting of CHA studies. These include Title (subitem 1a), Abstract/Summary (subitem 1b), Background (subitems 2ab), Model Identifiers (subitems 3ab), Model Details (subitems 4abc), Prompt Engineering (subitems 5ab), Query Strategy (subitems 6abcd), Performance Evaluation (subitems 7ab), Sample Size (subitem 8), Data Analysis (subitem 9a), Results (subitems 10abc), Discussion (subitems 11abc), Disclosures (subitem 12a), Funding (subitem 12b), Ethics (subitem 12c), Protocol (subitem 12d), and Data Availability (subitem 12e). CONCLUSION/CONCLUSIONS:The CHART checklist and corresponding methodological diagram were designed to support key stakeholders including clinicians, researchers, editors, peer reviewers, and readers in reporting, understanding, and interpreting the findings of CHA studies.

IMPORTANCE/UNASSIGNED:The rise in chatbot health advice (CHA) studies is accompanied by heterogeneity in reporting standards, impacting their interpretability. OBJECTIVE/UNASSIGNED:To provide reporting recommendations for studies evaluating the performance of generative artificial intelligence (AI)-driven chatbots when summarizing clinical evidence and providing health advice. DESIGN, SETTING, AND PARTICIPANTS/UNASSIGNED:CHART was developed in several phases after performing a comprehensive systematic review to identify variation in the conduct, reporting, and methodology in CHA studies. Findings from the review were used to develop a draft checklist that was revised through an international, multidisciplinary modified asynchronous Delphi consensus process of 531 stakeholders, 3 synchronous panel consensus meetings of 48 stakeholders, and subsequent pilot testing of the checklist. RESULTS/UNASSIGNED:CHART includes 12 items and 39 subitems to promote transparent and comprehensive reporting of CHA studies. These include title (subitem 1a), abstract or summary (subitem 1b), background (subitems 2ab), model identifiers (subitem 3ab), model details (subitems 4abc), prompt engineering (subitems 5ab), query strategy (subitems 6abcd), performance evaluation (subitems 7ab), sample size (subitem 8), data analysis (subitem 9a), results (subitems 10abc), discussion (subitems 11abc), disclosures (subitem 12a), funding (subitem 12b), ethics (subitem 12c), protocol (subitem 12d), and data availability (subitem 12e). CONCLUSIONS AND RELEVANCE/UNASSIGNED:The CHART checklist and corresponding methodological diagram were designed to support key stakeholders including clinicians, researchers, editors, peer reviewers, and readers in reporting, understanding, and interpreting the findings of CHA studies.

The Chatbot Assessment Reporting Tool (CHART) is a reporting guideline developed to provide reporting recommendations for studies evaluating the performance of generative artificial intelligence (AI)-driven chatbots when summarizing clinical evidence and providing health advice, referred to as Chatbot Health Advice (CHA) studies. CHART was developed in several phases after performing a comprehensive systematic review to identify variation in the conduct, reporting and methodology in CHA studies. Findings from the review were used to develop a draft checklist that was revised through an international, multidisciplinary modified asynchronous Delphi consensus process of 531 stakeholders, three synchronous panel consensus meetings of 48 stakeholders, and subsequent pilot testing of the checklist. CHART includes 12 items and 39 subitems to promote transparent and comprehensive reporting of CHA studies. These include Title (subitem 1a), Abstract/Summary (subitem 1b), Background (subitems 2ab), Model Identifiers (subitem 3ab), Model Details (subitems 4abc), Prompt Engineering (subitems 5ab), Query Strategy (subitems 6abcd), Performance Evaluation (subitems 7ab), Sample Size (subitem 8), Data Analysis (subitem 9a), Results (subitems 10abc), Discussion (subitems 11abc), Disclosures (subitem 12a), Funding (subitem 12b), Ethics (subitem 12c), Protocol (subitem 12d), and Data Availability (subitem 12e). The CHART checklist and corresponding methodological diagram were designed to support key stakeholders including clinicians, researchers, editors, peer reviewers, and readers in reporting, understanding, and interpreting the findings of CHA studies.