学科服务 更多>>

关键词： Autism spectrum disorders   Genetics  

摘要： The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) controversially combined previously distinct subcategories of autism spectrum disorder (ASD) into a single diagnostic category. However, genetic convergences and divergences between different ASD subcategories are unclear. By retrieving 1725 exonic de novo mutations (DNMs) from 1628 subjects with autistic disorder (AD), 1873 from 1564 subjects with pervasive developmental disorder not otherwise specified (PDD-NOS), 276 from 247 subjects with Asperger's syndrome (AS), and 2077 from 2299 controls, we found that rates of putative functional DNMs (loss-of-function, predicted deleterious missense, and frameshift) in all three subcategories were significantly higher than those in control. We then investigated the convergences and divergences of the three ASD subcategories based on four genetic aspects: whether any two ASD subcategories (1) shared significantly more genes with functional DNMs, (2) exhibited similar spatio-temporal expression patterns, (3) shared significantly more candidate genes, and (4) shared some ASD-associated functional pathways. It is revealed that AD and PDD-NOS were broadly convergent in terms of all four genetic aspects, suggesting these two ASD subcategories may be genetically combined. AS was divergent to AD and PDD-NOS for aspects of functional DNMs and expression patterns, whereas AS and AD/PDD-NOS were convergent for aspects of candidate genes and functional pathways. Our results indicated that the three ASD subcategories present more genetic convergences than divergences, favouring DSM-5's new classification. This study suggests that specifically defined genotypes and their corresponding phenotypes should be integrated analyzed for precise diagnosis of complex disorders, such as ASD.

关键词： autism spectrum   categorical perception   speech onset delay   cognition   Bayesian models  

摘要： Recent accounts of autistic perception, including Bayesian accounts, hypothesize a reduced influence of prior knowledge on perception across different domains in the autism spectrum (AS). The purpose of this study was to investigate the influence of prior linguistic knowledge, in the form of phonemic categorical knowledge, on speech perception in adults with AS condition. As phonemic categorical knowledge is shaped by language experience and abilities, we furthermore distinguished AS participants with (AS-SOD) or without a history of speech onset delay (AS-noSOD);the control group comprises typical individuals matched for age, nonverbal intelligence, and reading abilities. We also controlled for the influence of auditory-verbal short-term retention capacities by administering word list and nonword list repetition tasks. We did not observe any reduced influence of prior phonemic knowledge on the perception of speech stimuli nor did we observed any increased perceptual abilities for atypical variants of speech stimuli or nonspeech auditory stimuli, either between the two autistic groups or relative to the control group. Short-term memory abilities appeared to be superior in the AS-noSOD group relative to the AS-SOD and control groups, but this strength could be accounted for by their higher vocabulary knowledge. The preservation of categorical perception in verbal autistic adults observed in this study challenges models claiming a reduced influence of prior knowledge on perception across domains in the AS. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary A reduced influence of prior knowledge has been considered to characterize perceptual abilities in people with autism. In this article, we examine this claim by assessing nonlinguistic and linguistic auditory perception abilities in adults with autism, and by further distinguishing between autism with or without a history of delayed language development. We did n

关键词： Process plan   Category theory   String diagram   Mathematical modeling  

摘要： Process plans provide a structure for 1) identifying the tasks involved in a given process, 2) the resources needed to accomplish them, and 3) a variety of relationships and constraints between these. This information guides important operational decisions across various organizational levels, from the factory floor to the global supply chain. Efficient use of this information requires a concrete analytical model that can be easily represented in digital form. In this paper we present a modeling framework for process plans based on a branch of mathematics called category theory (CT). Specifically, string diagrams provide an intuitive yet precise graphical syntax for describing symmetric monoidal categories (SMCs), mathematical structures which support serial and parallel composition. Ideal for process representation, these structures also support a powerful mathematical toolkit. Here we use these tools to analyze the relationship between different levels of abstraction in process planning hierarchy. We also model some spatiotemporal aspects of planning, dynamic decision-making inside the process hierarchy and the updating procedure in the event of errors or extensions in the production line. Published by Elsevier B.V.

关键词： posture   body mass index   child   rural population  

摘要： Objective The aim of the study was to assess the relationship between body mass index (BMI) and the incidence of abnormalities in selected parameters measured in the trunk area. Design Cross-sectional studies. Setting The research was conducted in a primary school in the Trzebownisko Municipality, a rural area in southeastern Poland. Participants A group of 464 children, ranging in age from 6 to 16 years (234 boys and 230 girls), was recruited to participate in the study. Outcome measures The examination of their body postures was conducted with the use of the Zebris system. Body mass was determined using a body mass analyser Tanita MC-780 MA. BMI was calculated based on the acquired data. Results It was noticed that the children with overweight and obesity tended to have an incorrect position of the shoulders and pelvis in comparison to children with normal body weight. It was found that greater body mass (higher BMI) coincided with a larger distance of the scapulae from the frontal plane (p=0.009). Conclusions Increase in children's BMI produces adverse effects in the position of the shoulder blades, reflected by their greater distance from the frontal plane. Increase in BMI is not significantly related to the position of the shoulder joints or pelvis;however, the subjects with overweight or obesity presented a greater difference in the position of the shoulder joints and pelvis.

关键词： maps   Model structures   Generalization   Best value   Concurrency   formula   Homotopy   Theorem  

摘要： We provide, among other things: (i) a Bousfield-Kan formula for colimits in infinity-categories (generalizing the 1-categorical formula for a colimit as a coequalizer of maps between coproducts);(ii) oo-categorical generalizations of Barwick- Kan's Theorem B-n and Dwyer-Kan-Smith's Theorem C-n (regarding homotopy pullbacks in the Thomason model structure, which themselves vastly generalize Quillen's Theorem B);and (iii) an articulation of the simultaneous and interwoven functoriality of colimits (or dually, of limits) for natural transformations and for pullback along maps of diagram infinity-categories. (C) 2019 Elsevier B.V. All rights reserved.

关键词： Organ systems-breast imaging   Mammography   Screening  

摘要： Rationale and Objectives: The purpose of this study was to compare the utilization of the Breast Imaging Reporting and Data System (BI-RADS) category 3 assessment in patients recalled from screening before and after the implementation of digital breast tomosynthesis (DBT). Materials and Methods: This was a retrospective review of 11,478 digital mammography (DM) screening exams and 9350 DM+DBT screening exams. Lesions assigned a BI-RADS category 3 at diagnostic exam were classified as architectural distortions, asymmetries, calcifications, masses, and "other" and followed for a minimum of 2 years. Results: The addition of DBT to screening DM resulted in a 30.4% relative reduction (10.3 women per 1000) in the utilization of BI-RADS category 3 compared to screening DM alone (3.4% for DM versus 2.4% for DM+DBT;p < 0.0001). There was a statistically significant change in the distribution of category 3 findings with DM+DBT characterized by an increase in calcifications and architectural distortions and a decrease in asymmetries. There was no change in category 3 assessment for masses. Although both cohorts had delayed cancer detection rates that exceeded the recommended 2% benchmark (2.3% for DM and 3.6% for DM+DBT), when limited to invasive malignancies, the delayed cancer detection rates were below the 2% benchmark (1.5% for DM and 0.9% for DM+DBT). Screening DM+DBT resulted in a 9.2% relative reduction in recall rate compared to DM (13.0% for DM versus 11.8% for DM+ DBT, p = 0.012). Conclusion: Implementation of DBT in the screening population decreased the overall number of patients assigned to short-term follow-up by 10.3 per 1000 women while maintaining comparable rates of delayed cancer detection.

关键词： environmental indicator   geotechnical engineering   impact categories   industrial ecology   life cycle assessment (LCA)   soil quality  

摘要： Life cycle assessment (LCA) has only had limited application in the geotechnical engineering discipline, though it has been widely applied to civil engineering systems such as pavements and roadways. A review of previous geotechnical LCAs showed that most studies have tracked a small set of impact categories, such as energy and global warming potential. Accordingly, currently reported environmental indicators may not effectively or fully capture important environmental impacts and tradeoffs associated with geotechnical systems, including those associated with land and soil resources. This research reviewed previous studies, methods, and models for assessment of land use and soil-related impacts to understand their applicability to geotechnical LCA. The results of this review show that critical gaps remain in current knowledge and practice. In particular, further development or refinement of environmental indicators, impact categories, and cause-effect pathways is needed as they pertain to geotechnical applications-specifically those related to soil quality, soil functions, and the ecosystem services soils provide. In addition, many existing methods emerge from research on land use and land use change related to other disciplines (e.g., agriculture). For applicability to geotechnical projects, the resolution of many of these methods and resulting indicators need to be downscaled from the landscape/macro scale to the project scale. In the near term, practitioners of geotechnical LCA should begin tracking changes to soil properties and report impacts to land and soil resources qualitatively.

关键词： Troponin I.cardiac   Category   asymptomatic   HIGH SENSITIVITY  

关键词： Hypergraph categories   Compact closed categories   Frobenius algebras   Cospan   Wiring diagram  

摘要： Hypergraph categories have been rediscovered at least five times, under various names, including well-supported compact closed categories, dgs-monoidal categories, and dungeon categories. Perhaps the reason they keep being reinvented is twofold: there are many applications-including to automata, databases, circuits, linear relations, graph rewriting, and belief propagation-and yet the standard definition is so involved and ornate as to be difficult to find in the literature. Indeed, a hypergraph category is, roughly speaking, a "symmetric monoidal category in which each object is equipped with the structure of a special commutative Frobenius monoid, satisfying certain coherence conditions". Fortunately, this description can be simplified a great deal: a hypergraph category is simply a "cospan-algebra," roughly a lax monoidal functor from cospans to sets. The goal of this paper is to remove the scare-quotes and make the previous statement precise. We prove two main theorems. First is a coherence theorem for hypergraph categories, which says that every hypergraph category is equivalent to an objectwise-free hypergraph category. Second, we prove that the category of objectwise-free hypergraph categories is equivalent to the category of cospan-algebras. (C) 2019 Elsevier B.V. All rights reserved.

关键词： Biotherapeutic product   Post-approval change   Quality change   Case study   Implementation workshop   WHO  

摘要： Changes are essential for the continual improvement of the manufacturing process and for maintaining state-of-the-art controls on biotherapeutic products and such changes often need to be implemented after the product has been approved. WHO guidelines on procedures and data requirement for changes to approved biotherapeutic products were issued in 2017 to provide guidance to national regulatory authorities and manufacturers on the regulation of changes to already licensed biotherapeutic products in order to assure their continued quality, safety and efficacy, as well as continuity of supply and access. The case studies in this article were prepared to be used for WHO implementation workshops. Using these case studies, an interactive discussion was carried out among the workshop participants, and this article reflects the outcomes of case study exercise and lessons learnt from the 1st implementation workshop on the guidelines held on 25-26 June 2019, Seoul, Korea.