10 research outputs found

    Syntactic comprehension deficits across the FTD-ALS continuum

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    To establish the frequency, severity, relationship to bulbar symptoms, and neural correlates of syntactic comprehension deficits across the frontotemporal dementia–amyotrophic lateral sclerosis (FTD-ALS) disease spectrum. In total, 85 participants were included in the study; 20 amyotrophic lateral sclerosis (ALS), 15 FTD-ALS, 27 progressive nonfluent aphasia (PNFA), and 23 controls. Syntactic comprehension was evaluated in ALS, FTD-ALS, PNFA, and controls using the Test for Reception of Grammar. Voxel-based morphometry examined neuroanatomical correlates of performance. Syntactic comprehension deficits were detected in 25% of ALS (p = 0.011), 92.9% of FTD-ALS (p < 0.001), and 81.5% of PNFA (p < 0.001) patients. FTD-ALS was disproportionately impaired compared to PNFA. Impaired Test for Reception of Grammar performance was frequent in ALS with early bulbar involvement but did not correlate with bulbar impairment overall. Left peri-insular atrophy correlated with syntactic comprehension deficits. Syntactic comprehension deficits are frequent in FTD-ALS, more severe than in PNFA, and related to left peri-insular atrophy. A significant minority of ALS patients are impaired, but the relationship between bulbar symptoms and syntactic impairment is not understood

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∌99% of the euchromatic genome and is accurate to an error rate of ∌1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    “This Wasn’t Pedagogy, It Was Panicgogy”: Perspectives of the Challenges Faced by Students and Instructors during the Emergency Transition to Remote Learning Due to COVID-19

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    This qualitative study explores the impact of the emergency transition to remote education (ETRE) during the COVID-19 pandemic on instructors and students through the lens of self-determination theory (SDT). A modified thematic analysis of narratives from a cross-sectional survey revealed eight themes: Sense of loss/grief, Role conflict, Helplessness, I had no choice, This felt impossible, Lost connections, Am I safe, and They don’t care about me. Sub-themes expound on their associated themes. Participant narratives shared feelings of trauma and crisis as they related experiences of higher education during the mandated global shutdown. The stories of these experiences are indicative of loss of autonomy, competence, and relatedness, tenets of self-determination. These experiences, for the majority of students, led to a loss of motivation to learn, participate, or produce meaningful work. For most instructors, the experiences led to a similar lassitude and frustration. The authors conclude that the experience of the ETRE negatively impacted both teaching and learning in the higher education setting. Recommendations include further development in higher education to support both instructors’ and students’ self-determination during catastrophic change

    Progression of Geographic Atrophy in Age-related Macular Degeneration

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