Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, and Gordon CT
Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 353-356.
Humans, Heart Defects, Congenital, and Truncus Arteriosus, Persistent
Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., and Baralle, Diana
American Journal of Human Genetics. Jul2022, Vol. 109 Issue 7, p1217-1241. 25p.
MISSENSE mutation, GENETIC variation, LIGAND-gated ion channels, NEUROTRANSMITTER receptors, AMPA receptors, and NEURAL development
GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L -glutamate (Glu). AMPA receptors (AMPARs) are homo- or heteromeric protein complexes with four subunits, each encoded by different genes, GRIA1 to GRIA4. Although GluA1-containing AMPARs have a crucial role in brain function, the human phenotype associated with deleterious GRIA1 sequence variants has not been established. Subjects with de novo missense and nonsense GRIA1 variants were identified through international collaboration. Detailed phenotypic and genetic assessments of the subjects were carried out and the pathogenicity of the variants was evaluated in vitro to characterize changes in AMPAR function and expression. In addition, two Xenopus gria1 CRISPR-Cas9 F 0 models were established to characterize the in vivo consequences. Seven unrelated individuals with rare GRIA1 variants were identified. One individual carried a homozygous nonsense variant (p.Arg377Ter), and six had heterozygous missense variations (p.Arg345Gln, p.Ala636Thr, p.Ile627Thr, and p.Gly745Asp), of which the p.Ala636Thr variant was recurrent in three individuals. The cohort revealed subjects to have a recurrent neurodevelopmental disorder mostly affecting cognition and speech. Functional evaluation of major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroys the expression of GluA1-containing AMPARs. The Xenopus gria1 models show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants. These data support a developmental disorder caused by both heterozygous and homozygous variants in GRIA1 affecting AMPAR function. [ABSTRACT FROM AUTHOR]
Kawagoe, James C, Abrams, Adelaine E, Lourie, Austin P, and Walse, Spencer S
Pest Management Science; Jul2022, Vol. 78 Issue 7, p3090-3097, 8p
STINKBUGS, BROWN marmorated stink bug, CARBON dioxide, FUMIGATION, ATMOSPHERIC carbon dioxide, HEMIPTERA, and DILUTION
BACKGROUND: The brown marmorated stink bug (BMSB), Halyomorpha halys, has caused significant agricultural damage to numerous hosts, so agricultural producers seek to limit its spread. Where established, BMSB can also cause substantial urban and commercial disturbance, as overwintering adults may seek refuge inside dwellings, covered spaces, vehicles, and consignments. Phytosanitary authorities are most concerned with the importation of 'hitchhiking' adults in this refugia, with certain countries requiring a quarantine treatment to mitigate risk. This study explores fumigation with ethyl formate, applied as 16.7% by mass dilution in carbon dioxide, for control of adult BMSB. RESULTS: The induction of diapause, to simulate overwintering physiology, resulted in 2‐ and 3‐fold increases in the tolerance of adults toward this ethyl formate fumigation at 10 ± 0.5 °C (x¯±2s) lasting for 8 and 12 h, respectively. However, a decreased tolerance (0.7‐fold) of diapausing specimens was observed for a 4‐h duration. Diapausing and nondiapausing adult BMSB can be controlled at the probit 9 level if the headspace concentration of ethyl formate, [EF], in the carbon dioxide mixture is maintained ≥7.68 mg L−1 for 12 h at 10 ± 0.5 °C (x¯±2s). If the duration is shortened to 4 h, [EF] must be maintained ≥14.73 mg L−1 over the course of fumigation. CONCLUSION: The toxicity of ethyl formate in this mixture can be distinct for different physiological states of the same life stage, as evidenced by a ca. 3‐fold increase in the Haber's z parameter for adult BMSB when in diapause. Respective to the physiological state of adults, this study identifies how the applied dose and/or treatment duration can be modulated (i.e. tuned) to ensure adequate toxicological efficacy toward BMSB infesting hosts or refuge at temperatures ca. >10 °C. Published 2022. This article is a U.S. Government work and is in the public domain in the USA. [ABSTRACT FROM AUTHOR]
Leers, Math P. G., Deneer, Ruben, Mostard, Guy J. M., Mostard, Remy L. M., Boer, Arjen-Kars, Scharnhorst, Volkher, Stals, Frans, Kleinveld, Henne A., and van Dam, Dirk W.
PLoS ONE. 6/28/2022, Vol. 17 Issue 6, p1-12. 12p.
MEDICAL personnel, BLOOD testing, COVID-19 testing, SICK leave, and HOSPITALS
Background: COVID-19 is an ongoing pandemic leading to exhaustion of the hospital care system. Our health care system has to deal with a high level of sick leave of health care workers (HCWs) with COVID-19 related complaints, in whom an infection with SARS-CoV-2 has to be ruled out before they can return back to work. The aim of the present study is to investigate if the recently described CoLab-algorithm can be used to exclude COVID-19 in a screening setting of HCWs. Methods: In the period from January 2021 till March 2021, HCWs with COVID-19-related complaints were prospectively collected and included in this study. Next to the routinely performed SARS-CoV-2 RT-PCR, using a set of naso- and oropharyngeal swab samples, two blood tubes (one EDTA- and one heparin-tube) were drawn for analysing the 10 laboratory parameters required for running the CoLab-algorithm. Results: In total, 726 HCWs with a complete CoLab-laboratory panel were included in this study. In this group, 684 HCWs were tested SARS-CoV-2 RT-PCR negative and 42 cases RT-PCR positive. ROC curve analysis showed an area under the curve (AUC) of 0.853 (95% CI: 0.801–0.904). At a safe cut-off value for excluding COVID-19 of -6.525, the sensitivity was 100% with a specificity of 34% (95% CI: 21 to 49%). No SARS-CoV-2 RT-PCR cases were missed with this cut-off and COVID-19 could be safely ruled out in more than one third of HCWs. Conclusion: The CoLab-score is an easy and reliable algorithm that can be used for screening HCWs with COVID-19 related complaints. A major advantage of this approach is that the results of the score are available within 1 hour after collecting the samples. This results in a faster return to labour process of a large part of the COVID-19 negative HCWs (34%), next to a reduction in RT-PCR tests (reagents and labour costs) that can be saved. [ABSTRACT FROM AUTHOR]
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