32 research outputs found

    Highlights From the Annual Meeting of the American Epilepsy Society 2022

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    With more than 6000 attendees between in-person and virtual offerings, the American Epilepsy Society Meeting 2022 in Nashville, felt as busy as in prepandemic times. An ever-growing number of physicians, scientists, and allied health professionals gathered to learn a variety of topics about epilepsy. The program was carefully tailored to meet the needs of professionals with different interests and career stages. This article summarizes the different symposia presented at the meeting. Basic science lectures addressed the primary elements of seizure generation and pathophysiology of epilepsy in different disease states. Scientists congregated to learn about anti-seizure medications, mechanisms of action, and new tools to treat epilepsy including surgery and neurostimulation. Some symposia were also dedicated to discuss epilepsy comorbidities and practical issues regarding epilepsy care. An increasing number of patient advocates discussing their stories were intertwined within scientific activities. Many smaller group sessions targeted more specific topics to encourage member participation, including Special Interest Groups, Investigator, and Skills Workshops. Special lectures included the renown Hoyer and Lombroso, an ILAE/IBE joint session, a spotlight on the impact of Dobbs v. Jackson on reproductive health in epilepsy, and a joint session with the NAEC on coding and reimbursement policies. The hot topics symposium was focused on traumatic brain injury and post-traumatic epilepsy. A balanced collaboration with the industry allowed presentations of the latest pharmaceutical and engineering advances in satellite symposia

    Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

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    Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

    TRY plant trait database – enhanced coverage and open access

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    Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

    Efficacy of Electropalatography for Treating Misarticulation of /r/

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    Purpose: The purpose of the present study was to document the efficacy of electropalatography (EPG) for the treatment of rhotic errors in school-age children. Despite a growing body of literature using EPG for the treatment of speech sound errors, there is little systematic evidence about the relative efficacy of EPG for rhotic errors. Method: Participants were 5 English-speaking children aged 6;10 to 9;10, who produced/r/ at the word level with \u3c 30% accuracy but otherwise showed typical speech, language, and hearing abilities. Therapy was delivered in twice-weekly 30-min sessions for 8 weeks. Results: Four out of 5 participants were successful in achieving perceptually and acoustically accurate/r/ productions during within-treatment trials. Two participants demonstrated generalization of/r/ productions to nontreated targets, per blinded listener ratings. Conclusions: The present findings support the hypothesis that EPG can improve production accuracy in some children with rhotic errors. However, the utility of EPG is likely to remain variable across individuals. For rhotics, EPG training emphasizes one possible tongue configuration consistent with accurate rhotic production (lateral tongue contact). Although some speakers respond well to this cue, the narrow focus may limit lingual exploration of other acceptable tongue shapes known to facilitate rhotic productions

    Retroflex Versus Bunched in Treatment for Rhotic Misarticulation: Evidence From Ultrasound Biofeedback Intervention

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    PURPOSE: To document the efficacy of ultrasound biofeedback treatment for misarticulation of the North American English rhotic in children. Because of limited progress in the first cohort, a series of two closely related studies was conducted in place of a single study. The studies differed primarily in the nature of tongue-shape targets (e.g., retroflex, bunched) cued during treatment. METHOD: Eight participants received 8 weeks of individual ultrasound biofeedback treatment targeting rhotics. In Study 1, all 4 participants were cued to match a bunched tongue-shape target. In Study 2, participants received individualized cues aimed at eliciting the tongue shape most facilitative of perceptually correct rhotics. RESULTS: Participants in Study 1 showed only minimal treatment effects. In Study 2, all participants demonstrated improved production of rhotics in untreated words produced without biofeedback, with large to very large effect sizes. CONCLUSIONS: The results of Study 2 indicate that with proper parameters of treatment, ultrasound biofeedback can be a highly effective intervention for children with persistent rhotic errors. In addition, qualitative comparison of Studies 1 and 2 suggests that treatment for the North American English rhotic should include opportunities to explore different tongue shapes, to find the most facilitative variant for each individual speaker

    Heteroatom-Interchanged Isomers of Lissoclinamide 5: Copper(II) Complexation, Halide Binding, and Biological Activity

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    Cyclic peptides, especially those produced by marine cyanobacteria symbionts, are considered to play an important ecological role in host defence. Chemists have long compared the cyclic peptide cavitand architecture with that of macrocyclic ligands, and proposed that they mediate metal-ion transport. The study presented herein investigated the metal chelation of non-natural heteroatom-interchanged (HI) isomers of lissoclinamide 5, by using MS, EPR, and DFT calculations. The latter identified three possible structures for the Cu complex with natural lissoclinamide 5, with the most likely determined to be that with the metal ion bound through the nitrogen donors of the thiazoles and one deprotonated amide. For HI-lissoclinamide 5 the calculations suggest that the Cu ion is bound in a bidentate manner by the oxazoline nitrogen atom and one deprotonated amide nitrogen atom, with the S donor of the thiazole not involved in coordination. Along with evidence of copper binding these systems also bound halide ions. Evaluation of the anti-cancer properties demonstrated that the biological activity of HI-lissoclinamide 5 against T24 bladder cells was eleven-fold lower as compared to natural lissoclinamide 5. Addition of a Cu salt had no effect on the activity of lissoclinamide 5. Overall, this comprehensive study of the HI concept has demonstrated that small changes propagate dramatic effects in complexation, halide binding, and biological activity
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