scholarly journals CNV Neurons Are Rare in Aged Human Neocortex

2018 ◽  
Author(s):  
William D. Chronister ◽  
Margaret B. Wierman ◽  
Ian E. Burbulis ◽  
Matthew J. Wolpert ◽  
Mark F. Haakenson ◽  
...  
Keyword(s):  
Copy Number Variants ◽  
Allelic Diversity ◽  
Population Level ◽  
Information Criterion ◽  
Published Data ◽  
Tissue Quality ◽  
Cell Library ◽  
Detection Approach ◽  
Human Neurons ◽  
The Individual

AbstractMegabase-scale somatic copy number variants (CNVs) alter allelic diversity in a subset of human neocortical neurons. Reported frequencies of CNV neurons range from ∼5% of neurons in some individuals to greater than 30% in other individuals. Genome-wide and familial studies implicitly assume a constant brain genome when assessing the genetic risk architecture of neurological disease, thus it is critical to determine whether divergent reports of CNV neuron frequency reflect normal individual variation or technical differences between approaches. We generated a new dataset of over 800 human neurons from 5 neurotypical individuals and developed a computational approach that measures single cell library quality based on Bayesian Information Criterion and identifies integer-like variant segments from population-level statistics. A brain CNV atlas was assembled using our new dataset and published data from 10 additional neurotypical individuals. This atlas reveals that the frequency of neocortical CNV neurons varies widely among individuals, but that this variability is not readily accounted for by tissue quality or CNV detection approach. Rather, the age of the individual is anti-correlated with CNV neuron frequency. Fewer CNV neurons are observed in aged individuals than young individuals.

scholarly journals MicroHapDB: a portable and extensible database of all published microhaplotype marker and frequency data

2020 ◽  
Author(s):  
Daniel Standage ◽  
Rebecca Mitchell
Keyword(s):  
Allelic Diversity ◽  
Human Identification ◽  
Published Data ◽  
Frequency Data ◽  
Forensic Dna ◽  
Community Members ◽  
Individual Snps ◽  
Close Proximity ◽  
Population Allele Frequency ◽  
The Individual

ABSTRACTMicrohaplotypes are the subject of significant interest in the forensics community as a promising multi-purpose forensic DNA marker for human identification. Microhaplotype markers are composed of multiple SNPs in close proximity, such that a single NGS read can simultaneously genotype the individual SNPs and phase them in aggregate to determine the associated donor haplotype. Abundant throughout the human genome, numerous recent studies have sought to discover and rank microhaplotype markers according to allelic diversity within and among populations. Microhaplotypes provide an appealing alternative to STR markers for human identification and mixture deconvolution, but can also be optimized for ancestry inference or combined with phenotype SNPs for prediction of externally visible characteristics in a multiplex NGS assay. Designing and evaluating panels of microhaplotypes is complicated by the lack of a convenient database of all published data, as well as the lack of population allele frequency data spanning disparate marker collections. We present MicroHapDB, a comprehensive database of published microhaplotype marker and frequency data, as a tool to advance the development of microhaplotype-based human forensics capabilities. We also present population allele frequencies derived from 26 global population samples for all microhaplotype markers published to date, facilitating the design and interpretation of custom multi-source panels. We submit MicroHapDB as a resource for community members engaged in marker discovery, population studies, assay development, and panel and kit design.

Associations between collectivism and perception of social threat: a signal detection approach

2019 ◽  
Author(s):  
Tuong-Van Vu ◽  
Catrin Finkenauer ◽  
Lydia Krabbendam
Keyword(s):  
Signal Detection ◽  
Response Bias ◽  
Social Adjustment ◽  
Emotional Expressions ◽  
Social Threat ◽  
Threat Detection ◽  
Perceptual Sensitivity ◽  
Detection Approach ◽  
Self Construal ◽  
The Individual

Collectivistic orientation, which entails interdependent self-construal and concern for interpersonal harmony and social adjustment, has been suggested to be associated with detecting emotional expressions that signal social threat than individualistic orientation, which entails independent self-construal. The present research tested if this detection is a result of enhanced perceptual sensitivity or of response bias. We used country as proxy of individualism and collectivism (Country IC), measured IC of individuals with a questionnaire (Individual IC) and manipulated IC with culture priming (Situational IC). Dutch participants in the Netherlands (n = 143) and Chinese participants in China (n = 151) performed a social threat detection task where they had to categorize ambiguous facial expressions as “angry” or “not angry”. As the stimuli varied in degrees of scowling and frequency of presentation, we were able to measure the participants' perceptual sensitivity and response bias following the principles of the Signal Detection Theory. On the Country IC level, the results indicated that individualism-representative Dutch participants had higher perceptual sensitivity than collectivism-representative Chinese participants; whereas, Chinese participants were more biased towards categorizing a scowling face as “angry” than the Dutch (i.e. stronger liberal bias). In both groups, collectivism on the Individual IC was associated with a bias towards recognizing a scowling face as “not angry” (i.e. stronger conservative bias). Culture priming (Situational IC) affected neither perceptual sensitivity nor response bias. Our data suggested that cultural differences were in the form of behavioral tendency and IC entails multiple constructs linked to different outcomes in social threat detection.

scholarly journals A methodological framework to predict the individual and population‐level distributions from tracking data

Ecography ◽  
2021 ◽  
Author(s):  
Philippine Chambault ◽  
Tarek Hattab ◽  
Pascal Mouquet ◽  
Touria Bajjouk ◽  
Claire Jean ◽  
...  
Keyword(s):  
Population Level ◽  
Tracking Data ◽  
Methodological Framework ◽  
The Individual

Neuroblastoma—When are Urinary Catecholamines and Their Metabolites ‘Normal’?

1988 ◽  
Vol 25 (6) ◽  
pp. 620-626 ◽  
Author(s):  
D J Worthington ◽  
E M Hammond ◽  
B B Eldeeb ◽  
A Green ◽  
G M Addison ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
The Other ◽  
Published Data ◽  
Single Test ◽  
Creatinine Concentration ◽  
Urinary Catecholamines ◽  
Clinical Sensitivity ◽  
Reference Limit ◽  
Upper Reference Limit ◽  
The Individual

The overproduction of catecholamines and their metabolites is a well recognised feature of neuroblastoma. Published data are scarce for their urinary excretion in children with neuroblastoma and in ill children in whom this diagnosis may be considered. We have determined a graphical upper reference limit for total catecholamines, total metadrenalines and HMMA in urine, expressed as a ratio to the creatinine concentration, for a group of 174 children with neuroblastoma and 704 hospitalised children with other disorders. This graph has been determined by examining the overlap region between the results for the two groups of children and avoids the irregularities caused by statistical outliers. The sensitivity and specificity of the individual tests indicate that total catecholamines is marginally the best single test to perform when trying to diagnose neuroblastoma, with the best clinical sensitivity being achieved by examining both total catecholamines and HMMA. Only two of the 174 children with neuroblastoma would not have been detected using these two tests. Total metadrenalines did not appear to add any further information and could be dropped from the repertoire in favour of the other two measurements.

scholarly journals Phenotypic plasticity of labile traits in the wild

2013 ◽  
Vol 59 (4) ◽  
pp. 485-505 ◽  
Author(s):  
Jon E. Brommer
Keyword(s):  
Life History ◽  
Phenotypic Plasticity ◽  
Statistical Approach ◽  
Scale Up ◽  
Population Level ◽  
Wild Populations ◽  
Quantitative Genetic ◽  
In The Wild ◽  
The Individual ◽  
Quantitative Genetic Parameters

Abstract Individual-based studies allow quantification of phenotypic plasticity in behavioural, life-history and other labile traits. The study of phenotypic plasticity in the wild can shed new light on the ultimate objectives (1) whether plasticity itself can evolve or is constrained by its genetic architecture, and (2) whether plasticity is associated to other traits, including fitness (selection). I describe the main statistical approach for how repeated records of individuals and a description of the environment (E) allow quantification of variation in plasticity across individuals (IxE) and genotypes (GxE) in wild populations. Based on a literature review of life-history and behavioural studies on plasticity in the wild, I discuss the present state of the two objectives listed above. Few studies have quantified GxE of labile traits in wild populations, and it is likely that power to detect statistically significant GxE is lacking. Apart from the issue of whether it is heritable, plasticity tends to correlate with average trait expression (not fully supported by the few genetic estimates available) and may thus be evolutionary constrained in this way. Individual-specific estimates of plasticity tend to be related to other traits of the individual (including fitness), but these analyses may be anti-conservative because they predominantly concern stats-on-stats. Despite the increased interest in plasticity in wild populations, the putative lack of power to detect GxE in such populations hinders achieving general insights. I discuss possible steps to invigorate the field by moving away from simply testing for presence of GxE to analyses that ‘scale up’ to population level processes and by the development of new behavioural theory to identify quantitative genetic parameters which can be estimated.

scholarly journals Healthy ageing, resilience and wellbeing

2017 ◽  
Vol 26 (6) ◽  
pp. 579-583 ◽  
Author(s):  
T. D. Cosco ◽  
K. Howse ◽  
C. Brayne
Keyword(s):  
Population Level ◽  
Healthy Ageing ◽  
Ageing Population ◽  
Environmental Resources ◽  
Great Achievement ◽  
Health Concept ◽  
Ageing Model ◽  
The Face ◽  
The Individual ◽  
High Level

The extension of life does not appear to be slowing, representing a great achievement for mankind as well as a challenge for ageing populations. As we move towards an increasingly older population we will need to find novel ways for individuals to make the best of the challenges they face, as the likelihood of encountering some form of adversity increases with age. Resilience theories share a common idea that individuals who manage to navigate adversity and maintain high levels of functioning demonstrate resilience. Traditional models of healthy ageing suggest that having a high level of functioning across a number of domains is a requirement. The addition of adversity to the healthy ageing model via resilience makes this concept much more accessible and more amenable to the ageing population. Through asset-based approaches, such as the invoking of individual, social and environmental resources, it is hoped that greater resilience can be fostered at a population level. Interventions aimed at fostering greater resilience may take many forms; however, there is great potential to increase social and environmental resources through public policy interventions. The wellbeing of the individual must be the focus of these efforts; quality of life is an integral component to the enjoyment of additional years and should not be overlooked. Therefore, it will become increasingly important to use resilience as a public health concept and to intervene through policy to foster greater resilience by increasing resources available to older people. Fostering wellbeing in the face of increasing adversity has significant implications for ageing individuals and society as a whole.

Molecular weight determines the frequency of delayed type hypersensitivity reactions to heparin and synthetic oligosaccharides

2005 ◽  
Vol 94 (12) ◽  
pp. 1265-1269 ◽  
Author(s):  
Susanne Alban ◽  
Roland Kaufmann ◽  
Edelgard Lindhoff-Last ◽  
Wolf-Henning Boehncke ◽  
Ralf J. Ludwig ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Heparin Therapy ◽  
Delayed Type Hypersensitivity ◽  
Published Data ◽  
Low Molecular Weight ◽  
Hypersensitivity Reactions ◽  
Type Iv ◽  
Total Data ◽  
The Individual

SummaryEczematous lesions, resulting from type IV sensitizations are well-known and relatively frequent cutaneous adverse effects of s.c. heparin therapy. If anticoagulation is further required intravenous heparin, heparinoids or lepirudin may be used as a substitute. However, these alternatives are not optimal in terms of practicability and/or safety-profiles. As molecular weight of different heparin preparations has repetitively been implied to determine the frequency of sensitization, we hypothesized, that due to its low molecular weight the pentasaccharide fondaparinux may provide a practicable and safe anticoagulant therapy in patients with delayed type hypersensitivity reactions (DTH) to heparin and other oligosaccharides. To test this concept, patients referred for diagnosis of cutaneous reactions after s.c. anticoagulant treatment underwent a series of in vivo skin allergyand challenge-tests with unfractionated heparin, a series of low molecular weight heparins (nadroparin, dalteparin, tinzaparin, enoxaparin and certoparin), the heparinoid danaparoid and the synthetic pentasaccharide fondaparinux. In total, data from twelve patients was evaluated. In accordance with previously published data, we report a high crossreactivity among heparins and heparinoids. In contrast – and in support of our initial hypothesis – sensitization towards the synthetic pentasaccharide fondaparinux was rarely observed. Plotting the cumulative incidence against the determined molecular weight of the individual anticoagulant preparations, shows that molecular weight generally is a key determinant of sensitization towards heparins and other oligosaccharides (r2=0.842, p=0.009). Hence, fondaparinux may be used as a therapeutic alternative in patients with cutaneous DTH relations towards heparin and other polysaccharides.

scholarly journals Migration, acculturation, and the maintenance of between-group cultural variation

2017 ◽  
Author(s):  
Alex Mesoudi
Keyword(s):  
Social Learning ◽  
Cultural Values ◽  
Cultural Evolution ◽  
Population Level ◽  
Empirical Literature ◽  
Cultural Variation ◽  
Individual Level ◽  
And Migration ◽  
The Individual ◽  
Social Learning Processes

AbstractHow do migration and acculturation (i.e. psychological or behavioral change resulting from migration) affect within- and between-group cultural variation? Here I answer this question by drawing analogies between genetic and cultural evolution. Population genetic models show that migration rapidly breaks down between-group genetic structure. In cultural evolution, however, migrants or their descendants can acculturate to local behaviors via social learning processes such as conformity, potentially preventing migration from eliminating between-group cultural variation. An analysis of the empirical literature on migration suggests that acculturation is common, with second and subsequent migrant generations shifting, sometimes substantially, towards the cultural values of the adopted society. Yet there is little understanding of the individual-level dynamics that underlie these population-level shifts. To explore this formally, I present models quantifying the effect of migration and acculturation on between-group cultural variation, for both neutral and costly cooperative traits. In the models, between-group cultural variation, measured using F statistics, is eliminated by migration and maintained by conformist acculturation. The extent of acculturation is determined by the strength of conformist bias and the number of demonstrators from whom individuals learn. Acculturation is countered by assortation, the tendency for individuals to preferentially interact with culturally-similar others. Unlike neutral traits, cooperative traits can additionally be maintained by payoff-biased social learning, but only in the presence of strong sanctioning institutions. Overall, the models show that surprisingly little conformist acculturation is required to maintain realistic amounts of between-group cultural diversity. While these models provide insight into the potential dynamics of acculturation and migration in cultural evolution, they also highlight the need for more empirical research into the individual-level learning biases that underlie migrant acculturation.

scholarly journals Nonlinear visuoauditory integration in the mouse superior colliculus

2021 ◽  
Author(s):  
Shinya Ito ◽  
Yufei Si ◽  
Alan M. Litke ◽  
David A. Feldheim
Keyword(s):  
Superior Colliculus ◽  
Sensory Integration ◽  
Large Scale ◽  
Temporal Dynamics ◽  
Critical Role ◽  
Sensory Information ◽  
Population Level ◽  
Object Identification ◽  
Response Properties ◽  
The Individual

AbstractSensory information from different modalities is processed in parallel, and then integrated in associative brain areas to improve object identification and the interpretation of sensory experiences. The Superior Colliculus (SC) is a midbrain structure that plays a critical role in integrating visual, auditory, and somatosensory input to assess saliency and promote action. Although the response properties of the individual SC neurons to visuoauditory stimuli have been characterized, little is known about the spatial and temporal dynamics of the integration at the population level. Here we recorded the response properties of SC neurons to spatially restricted visual and auditory stimuli using large-scale electrophysiology. We then created a general, population-level model that explains the spatial, temporal, and intensity requirements of stimuli needed for sensory integration. We found that the mouse SC contains topographically organized visual and auditory neurons that exhibit nonlinear multisensory integration. We show that nonlinear integration depends on properties of auditory but not visual stimuli. We also find that a heuristically derived nonlinear modulation function reveals conditions required for sensory integration that are consistent with previously proposed models of sensory integration such as spatial matching and the principle of inverse effectiveness.

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