Citations

AbstractINTRODUCTIONHigher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females.METHODSWe included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex.RESULTSFemales with sporadic bvFTD showed worse compulsive behavior (p = 0.026) and language impairments (p = 0.024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe.DISCUSSIONFemales with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation.Highlights Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.

ABSTRACTIndividuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms. The group with dysphagia had more motor speech symptoms and parkinsonism. Longitudinal analysis revealed that almost everyone developed dysphagia before dying; the average time to death after developing dysphagia was 5.43 years and complications of dysphagia resulted in mortality for 35% of the individuals for whom data were available. These results emphasize the need for dysphagia management and provide useful prognostic estimates.

Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee. Comprising 37 members from all ILAE regions, the group utilized a modified Delphi process, requiring a consensus threshold of more than two thirds for any proposal. Following public comments, the Executive Committee appointed seven additional experts to the revision task force to address and incorporate the issues raised, as appropriate. The updated classification maintains four main seizure classes: Focal, Generalized, Unknown (whether focal or generalized), and Unclassified. Taxonomic rules distinguish classifiers, which are considered to reflect biological classes and directly impact clinical management, from descriptors, which indicate other important seizure characteristics. Focal seizures and those of unknown origin are further classified by the patient's state of consciousness (impaired or preserved) during the seizure, defined operationally through clinical assessment of awareness and responsiveness. If the state of consciousness is undetermined, the seizure is classified under the parent term, that is, the main seizure class (focal seizure or seizure of unknown origin). Generalized seizures are grouped into absence seizures, generalized tonic–clonic seizures, and other generalized seizures, now including recognition of negative myoclonus as a seizure type. Seizures are described in the basic version as with or without observable manifestations, whereas an expanded version utilizes the chronological sequence of seizure semiology. This updated classification comprises four main classes and 21 seizure types. Special emphasis was placed on ensuring translatability into languages beyond English. Its aim is to establish a common language for all health care professionals involved in epilepsy care, from resource‐limited areas to highly specialized centers, and to provide accessible terms for patients and caregivers.

Background: Recurrent Clostridioides difficile infection (rCDI) occurs in up to 35% of patients with CDI, and further recurrence is common. Fecal microbiota, live-jslm (RBL) is safe and effective for preventing rCDI in adults following antibiotic treatment for rCDI when administered rectally. There is clinical interest in alternative routes of administration. Objectives: CDI-SCOPE assessed the safety and clinical effectiveness of RBL when administered via colonoscopy to adults with rCDI. Design: Single-arm, exploratory phase IIIb trial conducted at 12 sites in the United States. Methods: Eligible adults with rCDI received one administration of RBL consisting of one 150-mL dose of RBL, delivered via colonoscopy to the right side of the colon. The primary endpoint assessed RBL-related treatment-emergent adverse events (TEAEs) within 8 weeks of RBL administration or until confirmed treatment failure. Secondary endpoints included treatment success (absence of CDI recurrence for 8 weeks following RBL administration), physician experience administering RBL via colonoscopy, and physician perception of participant benefit. Results: Of 54 participants screened, 41 were enrolled and received RBL via colonoscopy; 39 participants completed the 8-week visit. Five TEAEs in four participants (9.8%) were assessed as related to RBL, all of which were gastrointestinal and mild in severity. Overall, 18 participants (43.9%) experienced 33 TEAEs within 8 weeks, most of which were of mild (25/33; 75.8%) or moderate (5/33; 15.2%) severity. No TEAEs led to intensive care unit admission or death. Overall, 39 participants (95.1%) experienced treatment success; 2 participants (4.9%) withdrew consent and had an indeterminate outcome. Among physicians, 90.2% of investigators indicated a “positive” or “very positive” experience administering RBL by colonoscopy. All physicians assessed participant benefit as “much” or “very much” improved. Conclusion: This single-arm study suggests RBL administered via colonoscopy is practical, safe, and effective for preventing CDI recurrence following antibiotic treatment in adults. Trial registration: ClinicalTrials.gov: NCT05831189.

Abstract Uveal melanoma (UM), a rare yet aggressive intraocular cancer with an estimated 5 cases per million people annually, presents a high metastatic risk and poor prognosis, highlighting an immeasurable need for novel diagnostic and therapeutic strategies. Not only is UM characterized by complex genetic and epigenetic aberrations, but it is also prone to deregulation of non-coding RNAs that could be used as therapeutic targets of diagnostic markers. In this study, we analyzed whole exome sequencing data from tumor and control samples of patients diagnosed with both uveal and cutaneous melanoma, focusing on a patient with a germline mutation in MBD4. Our framework, made up to work with long non-coding RNAs (lncRNAs), aims to flesh out these molecules' novel roles in disease etiology and progression. We identified several lncRNAs significantly associated with UM progression and computationally validated them in conjunction with microenvironmental factors in existing literature. LncRNAs are instructive in maintaining cellular homeostasis and, when deregulated, contribute to oncogenesis. Our results implied that the interaction between lncRNAs and other non-coding RNAs might be one of the most relevant mechanisms influencing UM pathogenesis. More interestingly, microenvironmental factors and lncRNA interplay are crucial in disease progression. The clinical relevance of our findings was tested using radiation treatment to evaluate potential therapeutic implications. Over and above that, we assessed the potential of lncRNAs as biomarkers and therapeutic targets in personalized medicine for UM patients to address ineffective treatments. The new lncRNA panels could serve as a new avenue for targeted therapy. With an in-depth understanding of the descent of molecular alterations and how lncRNAs interact within the tumor microenvironment, we can better size up potential strategies to cast off the challenges UM poses. Our work provides instructive insights into lncRNAs underpinnings of UM, emphasizing the significance of lncRNAs in tumor biology and their interactions within the microenvironment. We believe our findings will lay the groundwork for future therapeutic strategies and underscore the necessity for continued research to unravel the complex mechanisms in UM pathogenesis. Citation Format: Vasileios Alevizos, Nikitas Gerolimos, Sabrina Edralin, Clark Xu, Akebu Simasiku, Georgios Priniotakis, George A. Papakostas, Zongliang Yue. Unraveling long non-coding RNA dynamics in uveal melanoma: Insights into pathogenesis, biomarkers, and targeted therapies [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 2800.

Coral reefs play an essential ecological role in maintaining marine water quality by naturally filtering contaminants. This study investigates the quantitative capability of coral reef ecosystems to reduce waterborne pollutants using biologically mediated processes. A systematic methodology, combining in situ observations, laboratory simulations, and analytical modeling, was adopted to determine the filtration efficiency of coral reefs. Remote sensing and photogrammetry characterized reef morphology, while microbial consortia transformations and coral polyp assimilation rates were quantified using biochemical assays. Results demonstrated significant nutrient uptake by coral polyps, particularly nitrogenous compounds, with higher removal efficiencies under stable salinity conditions. Temperature-induced stress was found to reduce polyp functionality. Enhanced sediment attenuation near reef structures improved coastal water transparency. The integration of vegetation buffers adjacent to reefs further augmented pollutant removal efficiency, with combined ecological strategies for effective pollution management.

Introduction: Despite being healthier than the general population on arrival, immigrants to the US often face systemic barriers to healthy lifestyle behaviors and increased risk of cardiovascular disease (CVD). Self-efficacy has been associated with healthy diet and physical activity behaviors, but associations and construct validity have not been well studied in large samples of immigrant populations. Hypothesis: Self-efficacy for a healthy diet and physical activity will be associated with better dietary quality and intake and more physical activity, respectively. We also assessed the construct validity of measurement scales in this population. Methods: Set in southeast Minnesota and embedded with the Rochester Healthy Community Partnership, a 20-year community-based participatory research partnership, the Healthy Immigrant Community study enrolled Hispanic/Latinx and Somali immigrants into a randomized intervention to reduce obesity and CVD risks. Baseline assessments included biometric measures and self-reports of dietary intake, physical activity, and quality of life in English, Spanish, or Somali. Two self-efficacy items (“How confident are you that you can eat a healthy diet?”; “How confident are you that you can participate in regular exercise or physical activity?”) were rated as a percentage interval (0%=not at all confident; 25%; 50%=somewhat confident; 75%; 100%=very confident). Results: In total, 451 participants, 268 (59%) Hispanic/Latinx and 183 (41%) Somali, completed baseline assessments for this analysis. The mean age was 45 years (range=18-87), 59% were female, and 37% lacked health insurance over ≤12 months. Participants reporting more confidence to eat a healthy diet were more likely to eat fruits and vegetables as snacks ( p =<0.001), and less likely to drink fruit drinks or sports drinks ( p =0.02) or regular soda ( p =<0.001). Those reporting more confidence to be physically active were also reported higher levels of physical activity ( p =0.001). Validated self-efficacy scales had a wide distribution of scores, suggesting that the measures can be appropriately used among these immigrant communities. Conclusion: Higher self-efficacy for a healthy diet and physical activity were significantly associated with healthier eating and physical activity behaviors. Lifestyle interventions to reduce CVD risk may benefit from incorporating culturally tailored strategies to enhance self-confidence and support health equity in immigrant communities.

Background: Cardiac rehabilitation (CR) is essential to secondary cardiovascular disease prevention and management of cardiac patients. Despite its proven benefits, CR remains underutilized with enrollment and completion rates ranging from 10-30% in the US. Yet, there is a scarcity of nationally representative data among diverse populations on socioeconomic differences in barriers and beliefs of CR participation and delivery mode preferences. Hypothesis: The perceptions (barriers, beliefs), CR delivery mode preferences, and CR utilization (prior enrollment) varies by socioeconomic status (SES) among CR-eligible individuals. Methods: We conducted an anonymous national electronic survey from March 2023 to January 2024 of individuals self-reporting a prior CR-eligible diagnosis. The 22-item CR Barriers Scale assessed perceived barriers to CR enrollment and participation using a 5-point Likert scale (strongly disagree to strongly agree). A 13-item, validated questionnaire assessed 4 subscales pertaining to patients’ beliefs about CR, each rated on a 5-point Likert scale (strongly disagree to strongly agree): perceived necessity, concerns about exercise, practical barriers and perceived suitability. CR delivery mode preferences were ascertained (eg, virtual, at-home, etc.). Mean barriers and belief scores as well as delivery mode preferences were stratified by SES. Low SES was defined as ≤ high school education, Medicaid insurance, or uninsured. High SES was defined as > high school education and non-Medicaid health insurance. Responses were analyzed using descriptive statistics with R software. Results: A total of 466 participants completed the survey (38.1% women, 30.6% minoritized racial/ethnic group, 29.6% low SES, 95% response rate) ( Table 1 ). The majority indicated prior enrollment in CR (81.5%) with no difference by SES. CR barrier scores did not differ significantly by SES (p=0.331) ( Table 2 ). Beliefs about CR perceived necessity and perceived suitability differed by SES (p<0.001 and p=0.025), but beliefs regarding concerns about exercise and practical barriers did not. The low SES group reported a higher preference for completely at-home CR compared to the high SES group (33.6% vs 7.4%, p<0.001). Conclusion: Our findings suggest that CR beliefs varied by SES while utilization did not. For CR-eligible patients experiencing socioeconomic disadvantage, at-home CR may be a preferred alternative to center-based CR to increase CR participation and adherence.