34 research outputs found

    A connectome and analysis of the adult Drosophila central brain.

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    The neural circuits responsible for animal behavior remain largely unknown. We summarize new methods and present the circuitry of a large fraction of the brain of the fruit fly Drosophila melanogaster. Improved methods include new procedures to prepare, image, align, segment, find synapses in, and proofread such large data sets. We define cell types, refine computational compartments, and provide an exhaustive atlas of cell examples and types, many of them novel. We provide detailed circuits consisting of neurons and their chemical synapses for most of the central brain. We make the data public and simplify access, reducing the effort needed to answer circuit questions, and provide procedures linking the neurons defined by our analysis with genetic reagents. Biologically, we examine distributions of connection strengths, neural motifs on different scales, electrical consequences of compartmentalization, and evidence that maximizing packing density is an important criterion in the evolution of the fly's brain

    Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre study

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    Purpose: Delirium is a neuropsychiatric disorder delineated by an acute change in cognition, attention, and consciousness. It is common, particularly in older adults, but poorly recognised. Frailty is the accumulation of deficits conferring an increased risk of adverse outcomes. We set out to determine how severity of frailty, as measured using the CFS, affected delirium rates, and recognition in hospitalised older people in the United Kingdom. Methods: Adults over 65 years were included in an observational multi-centre audit across UK hospitals, two prospective rounds, and one retrospective note review. Clinical Frailty Scale (CFS), delirium status, and 30-day outcomes were recorded. Results: The overall prevalence of delirium was 16.3% (483). Patients with delirium were more frail than patients without delirium (median CFS 6 vs 4). The risk of delirium was greater with increasing frailty [OR 2.9 (1.8–4.6) in CFS 4 vs 1–3; OR 12.4 (6.2–24.5) in CFS 8 vs 1–3]. Higher CFS was associated with reduced recognition of delirium (OR of 0.7 (0.3–1.9) in CFS 4 compared to 0.2 (0.1–0.7) in CFS 8). These risks were both independent of age and dementia. Conclusion: We have demonstrated an incremental increase in risk of delirium with increasing frailty. This has important clinical implications, suggesting that frailty may provide a more nuanced measure of vulnerability to delirium and poor outcomes. However, the most frail patients are least likely to have their delirium diagnosed and there is a significant lack of research into the underlying pathophysiology of both of these common geriatric syndromes

    Phenotypic and Genotypic Heterogeneity in Autism Spectrum Disorder

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    Many genetic events can cause autism spectrum disorder (ASD). One specific genetic event involves deletion or duplication of approximately 50 genes, 22q11.2 Deletion/Duplication Syndrome, and leads to ASD in 10-40% of cases. Chapter 1 describes an effort to identify a critical region that confers ASD risk within those ~50 genes and reports that the Low Copy Repeat-A to B region shows the strongest association. Next, we explore ‘background genetics’ the remainder of the genome, almost entirely inherited from one’s parents - that interact with genetic events such as 22q11.2 deletions/duplications. Quantifying a heritable phenotype in one’s parents can indirectly quantify the phenotype encoded in one’s ‘background genetics.’ Heterogeneity among individuals with 22q11.2 Deletion/Duplication Syndrome, therefore, can be partially explained by heterogeneity among their parents’ phenotypes. An ideal heritable trait in which to explore this framework is one of the most studied and understood constructs in psychology: IQ. However, few studies measure parental IQ due to the prohibitive cost and inconvenience of current IQ assessments. Chapter 2 reports the optimal methods for using small sample sizes to develop and calibrate a large, computer adaptive item pool for a new IQ assessment. The method described can be used to develop an online IQ test to facilitate data collection from families and understanding of ‘background genetics.’ Chapter 3 tests whether ‘IQ’ holds the same meaning for children with autism when assessed with the Differential Ability Scales, 2nd Edition (DAS-II) compared to the normative, standardization sample and reports that while verbal and nonverbal reasoning scores do function similarly between groups, the spatial composite score does not. Taken together, these three chapters advance our understanding of IQ assessment in autism and provide one example of a genetics-first sample in which these insights can be applied. Given the importance of IQ for predicting outcomes and its heterogeneity within genetically homogenous samples, the rapidly evolving field of ASD behavioral genetics stands to benefit from an efficient, valid online IQ assessment of verbal and nonverbal reasoning, which hold the same meaning for individuals with autism and typical individuals on the commonly used DAS-II

    Phenotypic and Genotypic Heterogeneity in Autism Spectrum Disorder

    No full text
    Many genetic events can cause autism spectrum disorder (ASD). One specific genetic event involves deletion or duplication of approximately 50 genes, 22q11.2 Deletion/Duplication Syndrome, and leads to ASD in 10-40% of cases. Chapter 1 describes an effort to identify a critical region that confers ASD risk within those ~50 genes and reports that the Low Copy Repeat-A to B region shows the strongest association. Next, we explore ‘background genetics’ the remainder of the genome, almost entirely inherited from one’s parents - that interact with genetic events such as 22q11.2 deletions/duplications. Quantifying a heritable phenotype in one’s parents can indirectly quantify the phenotype encoded in one’s ‘background genetics.’ Heterogeneity among individuals with 22q11.2 Deletion/Duplication Syndrome, therefore, can be partially explained by heterogeneity among their parents’ phenotypes. An ideal heritable trait in which to explore this framework is one of the most studied and understood constructs in psychology: IQ. However, few studies measure parental IQ due to the prohibitive cost and inconvenience of current IQ assessments. Chapter 2 reports the optimal methods for using small sample sizes to develop and calibrate a large, computer adaptive item pool for a new IQ assessment. The method described can be used to develop an online IQ test to facilitate data collection from families and understanding of ‘background genetics.’ Chapter 3 tests whether ‘IQ’ holds the same meaning for children with autism when assessed with the Differential Ability Scales, 2nd Edition (DAS-II) compared to the normative, standardization sample and reports that while verbal and nonverbal reasoning scores do function similarly between groups, the spatial composite score does not. Taken together, these three chapters advance our understanding of IQ assessment in autism and provide one example of a genetics-first sample in which these insights can be applied. Given the importance of IQ for predicting outcomes and its heterogeneity within genetically homogenous samples, the rapidly evolving field of ASD behavioral genetics stands to benefit from an efficient, valid online IQ assessment of verbal and nonverbal reasoning, which hold the same meaning for individuals with autism and typical individuals on the commonly used DAS-II

    Assessing the conservation risk of Sphaerodactylus notatus, the U.S. herpetofaunal species most vulnerable to sea level rise

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    Keywords: Climate change; Florida; Fragmentation; Reptile; Reef gecko; Threatened species While climate change and sea level rise threaten species across the globe, species in low-lying coastal regions, such as South Florida, are projected to face particularly severe threats. One such species is the Florida reef gecko (Sphaerodactylus notatus), the only gecko native to the eastern U.S., and a highly understudied species that persists in heavily fragmented habitats of only three coastal Florida counties. To assess the conservation status of this species, we conducted surveys throughout South Florida to determine potential extirpations from historic localities and to delimit S. notatus' current distribution. We also estimated the level of threat S. notatus faces from sea level rise relative to other species by analyzing sea level risk of all herpetofauna in the U.S. We detected geckos in only 41% of sites with appropriate habitat, and in only 65% of historic localities. Geckos were only present within 1.2 km from the coast, and the minimum 2.2 m of sea level rise already expected based on current carbon emissions will place 85% of suitable S. notatus habitat under water. Our findings were used to update the conservation risk of S. notatus according to IUCN and Florida guidelines for listing threatened and endangered species, and suggest this species now fits the criteria to warrant listing. In comparison to all other U.S. herpetofaunal species, we found that S. notatus is the most at risk from sea level rise due its fidelity to low-lying coastal habitats. Author Affiliation: (1) Department of Biology, University of Miami, 1301 Memorial Drive, 33146, Coral Gables, FL, USA (a) [email protected] Article History: Registration Date: 10/31/2020 Received Date: 04/01/2020 Accepted Date: 10/31/2020 Online Date: 11/07/2020 Byline:Academi

    Protect or perish: Quantitative analysis of state‐level species protection supports preservation of the Endangered Species Act

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    To combat biodiversity loss in the United States, imperiled species are protected under the federal Endangered Species Act (ESA), which is currently threatened by political initiatives seeking to weaken it and potentially transfer substantial authority to the states. To assess the conservation capacity of current state laws, we conducted a quantitative analysis of imperiled species protection within all 50 states by compiling data on all state‐listed species, ESA‐listed species, and IUCN Red List species in each state. We found that currently 16% of ESA‐listed species and 52% of IUCN imperiled species are not protected by any state law, and if the ESA were repealed these numbers could increase to 73% of ESA‐listed species and 81% of IUCN imperiled species unprotected. Although protection varies widely among states, our results suggest that revoking the ESA would be highly detrimental to imperiled species conservation and recovery in the United States
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