Genes Suggest Ancestral Colour Polymorphisms Are Shared across Morphologically Cryptic Species in Arctic Bumblebees

email Suzanne orcd idCopyright: © 2015 Williams et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

ARDD 2020: from aging mechanisms to interventions

Aging is emerging as a druggable target with growing interest from academia, industry and investors. New technologies such as artificial intelligence and advanced screening techniques, as well as a strong influence from the industry sector may lead to novel discoveries to treat age-related diseases. The present review summarizes presentations from the 7th Annual Aging Research and Drug Discovery (ARDD) meeting, held online on the 1st to 4th of September 2020. The meeting covered topics related to new methodologies to study aging, knowledge about basic mechanisms of longevity, latest interventional strategies to target the aging process as well as discussions about the impact of aging research on society and economy. More than 2000 participants and 65 speakers joined the meeting and we already look forward to an even larger meeting next year. Please mark your calendars for the 8th ARDD meeting that is scheduled for the 31st of August to 3rd of September, 2021, at Columbia University, USA

BacHBerry: BACterial Hosts for production of Bioactive phenolics from bERRY fruits

BACterial Hosts for production of Bioactive phenolics from bERRY fruits (BacHBerry) was a 3-year project funded by the Seventh Framework Programme (FP7) of the European Union that ran between November 2013 and October 2016. The overall aim of the project was to establish a sustainable and economically-feasible strategy for the production of novel high-value phenolic compounds isolated from berry fruits using bacterial platforms. The project aimed at covering all stages of the discovery and pre-commercialization process, including berry collection, screening and characterization of their bioactive components, identification and functional characterization of the corresponding biosynthetic pathways, and construction of Gram-positive bacterial cell factories producing phenolic compounds. Further activities included optimization of polyphenol extraction methods from bacterial cultures, scale-up of production by fermentation up to pilot scale, as well as societal and economic analyses of the processes. This review article summarizes some of the key findings obtained throughout the duration of the project

The abdominal drawing-in manoeuvre for detecting activity in the deep abdominal muscles : is this clinical tool reliable and valid?

OBJECTIVE: The abdominal drawing-in manoeuvre (ADIM) is a common clinical tool for manually assessing whether a preferential activation of the deep abdominal muscles in patients with low back pain (LBP) is ‘correct’ or not. The validity and reliability of manual assessment of the ADIM are, however, as yet unknown. This study evaluated the concurrent and discriminative validity and reliability of the manually assessed ADIM. DESIGN: Single-blinded cross-sectional study. SETTINGS: General population in Stockholm County, Sweden. PARTICIPANTS: The study sample comprised 38 participants seeking care for LBP, and 15 healthy subjects. MEASURES: The manual ADIM was assessed as correct or not following a standard procedure. Ultrasound imaging (USI) was used as the concurrent reference (gold standard) for the manually assessed ADIM by calculating a ratio of the change in muscle thickness between the resting and the contracted states: the correlation between manual test and USI was calculated. Discriminative validity was analysed by calculating sensitivity and specificity. A sample of 24 participants was analysed with κ coefficients for interobserver reliability between two raters. RESULTS: The concurrent validity between the manual ADIM and the ADIM–USI ratios showed poor correlations (r=0.13–0.40). The discriminative validity of the manually assessed ADIM to predict LBP showed a sensitivity/specificity of 0.30/0.73, while the ADIM–USI ratio to predict LBP showed 0.19/0.87. The interobserver reliability for the manually assessed ADIM revealed substantial agreement: K=0.71, CI (95%) 0.41 to 1.00. CONCLUSIONS: Although the interobserver reliability of the manually assessed ADIM was high, the concurrent and discriminative validity were both low for examining the preferential activity of the deep abdominal muscles. Neither the manually assessed ADIM nor the ultrasound testing discriminated between participants with LBP and healthy subjects regarding preferential activity of the transversus muscle as this ability/inability was also present in healthy subjects