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Extracellular vesicles (EVs)-nanoscale phospholipid vesicles secreted by cells-present new opportunities for molecular diagnosis from non-invasive liquid biopsies. Single EV protein analysis can be extremely valuable in studying EVs as circulating cancer biomarkers, but it is technically challenging due to weak detection signals associated with limited amounts of epitopes and small surface areas for antibody labeling. Here, a new, simple method that enables multiplexed analyses of EV markers with improved sensitivities is reported. Specifically, plasmon-enhanced fluorescence detection is implemented that amplifies fluorescence signals using surface plasmon resonances excited by periodic gold nanohole structures. It is shown that fluorescence signals in multiple channels are amplified by one order of magnitude, and both transmembrane and intravesicular markers can be detected at the single EV level. This approach can offer additional insight into understanding subtypes, heterogeneity, and production dynamics of EVs during disease development and progression.Mutations in CHD8 are among the most common autism-causing genetic defects identified in human genomics studies. Therefore, many labs have attempted to model this disorder by generating mice with mutations in Chd8. Using a gene trap inserted after Exon 31, we created a novel Chd8 mutant mouse (Chd8+/E31T ) and characterized its behavior on several different assays thought to have face validity for the human condition, attempting to model both the core symptoms (repetitive behaviors and social communication impairments) and common comorbidities (motor deficits, anxiety, and intellectual disability). We found that Chd8+/E31T mice showed no difference compared to wild-type mice in amount of self-grooming, reproducing the negative finding most other studies have reported. Unlike some of the other published lines, Chd8+/E31T mice did not show deficits in the three-chamber test for social novelty preference. A few studies have examined ultrasonic vocalizations in Chd8 mutant mice, but we are the first to report an tencies occur may help us understand why patients with various mutations have different degrees of symptom severity. Autism Res 2020, 13 1685-1697. © 2020 International Society for Autism Research and Wiley Periodicals LLC.
More older couples are living independently while managing chronic health conditions. Though research is replete in identifying the influence of spouse's behaviours on each other's health, there is little known of the specific factors underlying the older couples' relational processes to explain this dynamic. Knowledge development is needed to provide a grounding for interventions to address such influences to improve health and well-being.
The aim of this study was to advance the understanding of older couples' experiences of living with chronic health conditions to gain insights into the potential benefits of 'being a couple' to manage behavioural health and life adjustments.
A hermeneutic-dialectic phenomenology design based on Newman's theory of Health as Expanding Consciousness was used. Fourteen older couples were jointly interviewed. The interviews were non-structured and designed to capture their experience as a couple.
Three themes emerged (a) living meaningfully through mutual caregiving, (b) a pattern of spousal movement facilitating change and (c) co-creating as an older couple to move forward.
The study supports reframing older couple's care as a 'dyad of care'. This approach provides an opportunity to leverage the couples' mutuality to support health management as a couple. A motivation to action process between the spouses appeared to enable mutual caregiving, a reliance of each spouse on the another for identity, socialisation, health and daily living, which facilitated an evolving understanding of their lives and its meaning.
Mutual caregiving should be acknowledged as a significant relational dynamic within older couples, as a dyad of care, when managing health and well-being.
Mutual caregiving should be acknowledged as a significant relational dynamic within older couples, as a dyad of care, when managing health and well-being.
Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of the spectrum of disease, interpretation of TTN variants is often difficult for laboratories and clinicians. Currently, cardiomyopathy is associated with heterozygous A-band TTN variants, whereas skeletal myopathy is largely associated with homozygous or compound heterozygous TTN variants. Recent reports show pathogenic variants in TTN may result in a broader phenotypic spectrum than previously recognized.
Here we report the results of a multisite study that characterized the phenotypes of probands with variants in TTN. We investigated TTN genotype-phenotype correlations in probands with skeletal myopathy and/or cardiomyopathy. Probands with TTN truncating variants (TTNtv) or pathogenic missense variants were ascertained from two academic medical centers. selleck kinase inhibitor Variants were ide of multidisciplinary care for patients with A-band TTNtv who may be at risk for multisystem disease.
Although heterozygous TTNtv in the A-band is known to cause dilated cardiomyopathy, we present evidence that these variants may in some cases cause a novel, dominant skeletal myopathy with a limb-girdle pattern of weakness. These findings emphasize the importance of multidisciplinary care for patients with A-band TTNtv who may be at risk for multisystem disease.Soil microbiome is one of the most heterogeneous biological systems. State-of-the-art molecular approaches such as those based on single-amplified genomes (SAGs) and metagenome assembled-genomes (MAGs) are now improving our capacity for disentailing soil microbial-mediated processes. Here, we analysed publicly available datasets of soil microbial genomes and MAG's reconstructed from the Amazon's tropical soil (primary forest and pasture) and active layer of permafrost, aiming to evaluate their genome size. Our results suggest that the Candidate Phyla Radiation (CPR)/Patescibacteria phyla have genomes with an average size fourfold smaller than the mean identified in the RefSoil database, which lacks any representative of this phylum. Also, by analysing the potential metabolism of 888 soil microbial genomes, we show that CPR/Patescibacteria representatives share similar functional profiles, but different from other microbial phyla and are frequently neglected in the soil microbial surveys. Finally, we argue that the use of MAGs may be a better choice over SAGs to expand the soil microbial databases, like RefSoil.
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