24 research outputs found

    Present status of Latin in the high school

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    Thesis (Ed.M.)--Boston Universit

    Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

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    BACKGROUND: Although habituation is one of the most ancient and fundamental forms of learning, its regulators and its relevance for human disease are poorly understood. METHODS: We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and we tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits and integrated genotype-phenotype annotations, gene ontologies, and interaction networks to determine the clinical features and molecular processes that are associated with habituation deficits. RESULTS: We identified >100 genes required for habituation learning. For 93 of these genes, a role in habituation learning was previously unknown. These genes characterize ID disorders with macrocephaly and/or overgrowth and comorbid ASD. Moreover, individuals with ASD from the Simons Simplex Collection carrying damaging de novo mutations in these genes exhibit increased aberrant behaviors associated with inappropriate, stereotypic speech. At the molecular level, ID genes required for normal habituation are enriched in synaptic function and converge on Ras/mitogen-activated protein kinase (Ras/MAPK) signaling. Both increased Ras/MAPK signaling in gamma-aminobutyric acidergic (GABAergic) neurons and decreased Ras/MAPK signaling in cholinergic neurons specifically inhibit the adaptive habituation response. CONCLUSIONS: Our work supports the relevance of habituation learning to ASD, identifies an unprecedented number of novel habituation players, supports an emerging role for inhibitory neurons in habituation, and reveals an opposing, circuit-level-based mechanism for Ras/MAPK signaling. These findings establish habituation as a possible, widely applicable functional readout and target for pharmacologic intervention in ID/ASD

    Autism and the transition to university from the student perspective

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    University provides individuals with the opportunity to develop greater independence in living skills and social networks, while also gaining valuable qualifications. Despite a high proportion of autistic individuals aspiring to attend university, many either do not seek or gain entry or drop out prematurely. Although some steps have been taken to develop effective support, a recent review highlighted the scarcity of research into programmes designed to support autistic students transitioning to university. In addition, few studies have examined the views of autistic students themselves. This study investigated the perspectives of autistic students transitioning to university. Three focus groups were conducted with 25 autistic students preparing to start university. Participants were asked about their hopes for starting university, as well as their worries and concerns. Data were analysed using thematic analysis, from which five main themes were identified: The Social World, Academic Demands, Practicalities of University Living, Leaving the Scaffolding of Home and Transition to Adulthood. The results provide an important account of the challenges autistic students face when transitioning to university, as well as their aspirations. These findings have a number of practical implications

    Proceedings of Patient Reported Outcome Measure’s (PROMs) Conference Oxford 2017: Advances in Patient Reported Outcomes Research

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    A33-Effects of Out-of-Pocket (OOP) Payments and Financial Distress on Quality of Life (QoL) of People with Parkinson’s (PwP) and their Carer

    Comparison of Bone Marrow Biopsy Specimens Obtained Using a Motorized Device and Manual Biopsy Systems

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    Objective: Bone marrow biopsy is an essential component in the diagnosis of hematopoietic disorders. Researchers evaluated the quality of bone marrow biopsy tissue acquired with a motorized bone marrow biopsy device versus a standard manual device based on the following criteria: biopsy length, percentage of aspiration artifact/intrastromal hemorrhage, length of nonhematopoietic bone, and overall quality of the sample. Methods: Bone marrow biopsies (motorized, n = 30; manual, n = 120) from two academic medical centers were evaluated by two board-certified hematopathologists. For each specimen, the following parameters were recorded: biopsy length (cm), aspiration artifact (assessed in intervals of ≤10%, 11%–25%, 26%–50%, 51%–75%, and >75%), length (cm) of nonhematopoietic biopsy (e.g., cortical bone and skin), and overall quality of sample (inadequate, suboptimal, adequate, and excellent). Results: Operators from two centers included physicians and nurse practitioners. The manual system was superior to the powered drill with respect to the amount of crush artifact (0.15 cm ± 0.01 vs. 0.24 cm ± 0.04, P = 0.01 [t-test]). There was a trend toward less aspiration artifact/intrastromal hemorrhage with the use of the manual biopsy; however, the difference was not statistically significant (P = 0.06). There was no statistically significant difference in the overall biopsy size, biopsy length, amount of nonhematopoietic elements, and overall adequacy of the sample. Conclusions: There was no significant difference in the biopsy length, amount of nonhematopoietic elements, and overall adequacy of the sample. Results suggest that the manual bone marrow biopsy device has significantly less crush artifact of the specimen and has a trend toward less aspiration artifact/intrastromal hemorrhage as well
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