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At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr1684405221, GRCh38.p12) in the ATP2C2 gene. ATP2C2 was implicated in language disorders by linkage and association studies, and exactly the same variant was reported previously in a different exome sequencing study for language impairment (LI). We followed up this finding by genotyping the mutation in cohorts selected for LI and comorbid disorders. We found that the variant had a higher frequency in LI cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). Additionally, we observed that carriers of the rare variant identified from a general population cohort (N = 42, ALSPAC cohort) presented, as a group, lower scores on a range of reading and language-related measures compared to controls (N = 1825; minimum P = 0.002 for non-word reading). ATP2C2 encodes for an ATPase (SPCA2) that transports calcium and manganese ions into the Golgi lumen. Our functional characterization suggested that the rare variant influences the ATPase activity of SPCA2. Thus, our results further support the role of ATP2C2 locus in language-related phenotypes and pinpoint the possible effects of a specific rare variant at molecular level.Drought can lead to important shifts in populations' dynamics if occurs during seedling establishment. With the aim of elucidating the underlying mechanisms of drought tolerance and resilience, here we monitored the survival of seedlings of the Mediterranean shrub Cistus albidus throughout a year growing in the natural Park of the Montserrat Mountains (Spain) and, additionally, we studied the response to severe drought and subsequent recovery after re-watering, of seedlings grown in growth chambers. To find possible mechanisms explaining how seedlings respond to drought, growth and survival together with physiological-related parameters such as chlorophyll contents, vitamin E and stress-related phytohormones were measured. We found that survival decreased by a 30% at the end of summer and that the main proxy of seedling survival was total chlorophyll. This proxy was further confirmed in the growth chambers, where we found that seedlings that recovered from drought had higher levels of total chlorophyll compared to the seedlings that did not recover. Furthermore, modulation of vitamin E and jasmonates contents appeared to be crucial in the drought response of C. albidus seedlings. We propose a prediction model of survival that includes height, leaf mass area and maximum PSII efficiency with chlorophyll contents being a good long-term predictor of C. albidus seedling survival under severe stress, which, in turn, could help to better foresee populations' fluctuations in the field.
Newly intensified use of personal protective equipment (PPE) in emergency departments presents teamwork challenges affecting the quality and safety of care at the frontlines.
We conducted a qualitative study to categorize and describe barriers to teamwork posed by PPE and distancing in the emergency setting.
We conducted 55 semi-structured interviews between June 2020 and August 2020 with personnel from two emergency departments serving in a variety of roles. We then performed a thematic analysis to identify and construct patterns of teamwork challenges into themes.
We discovered two types of challenges to teamwork material barriers related to wearing masks, gowns and powered air-purifying respirators, and spatial barriers implemented to conserve PPE and limit coronavirus exposure. Both material and spatial barriers resulted in disrupted communication, roles and interpersonal relationships, but they did so in unique ways. Material barriers muffled information flow, impeded team member recognition and role/task division, and reduced belonging and cohesion while increasing interpersonal strain. Spatial barriers resulted in mediated communication and added physical and emotional distance between teammates and patients.
Our findings identify specific aspects of how intensified PPE use disrupts teamwork and can inform efforts to ensure care quality and safety in emergency settings as PPE use continues during and, potentially beyond, the coronavirus disease-2019 pandemic.
Our findings identify specific aspects of how intensified PPE use disrupts teamwork and can inform efforts to ensure care quality and safety in emergency settings as PPE use continues during and, potentially beyond, the coronavirus disease-2019 pandemic.CLP1, TSEN complex, and VCP are evolutionarily conserved proteins whose mutations are associated with neurodegenerative diseases. In this study, we have found that they are also involved in germline differentiation. To optimize both quantity and quality in gametes production, germ cells expand themselves through limited mitotic cycles prior to meiosis. Stemming from our previous findings on the correlation between mRNA 3'-processing and meiosis entry, here we identify that the RNA kinase Cbc, the Drosophila member of the highly conserved CLP1 family, is a component of the program regulating the transition from mitosis to meiosis. Using genetic manipulations in Drosophila testis, we demonstrate that nuclear Cbc is required to promote meiosis entry. Combining biochemical and genetic methods, we reveal that Cbc physically and/or genetically intersects with Tsen54 and TER94 (VCP ortholog) in this process. The C-terminal half of Tsen54 is both necessary and sufficient for its binding with Cbc. PCM-075 Further, we illustrate the functional conservation between Cbc and mammalian CLP1 in the assays of subcellular localization and Drosophila fertility. As CLP1, TSEN complex, and VCP have also been identified in neurodegenerations of animal models, a mechanism involving these factors seems to be shared in gametogenesis and neurogenesis.
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