27 research outputs found
Genetic diversity of carbapenem-resistant isolates of Acinetobacter baumannii in Europe
ABSTRACTIn total, 96 carbapenem-resistant isolates of Acinetobacter baumannii were obtained from 25 hospitals in 17 European countries. Imipenem MICs ranged from <4 to 128 mg/L on retesting by Etest, with MICs ≥16 mg/L being associated with the carriage of genes encoding at least one other class D carbapenemase in addition to the intrinsic OXA-51-like enzyme. Molecular typing results obtained by random amplified polymorphic DNA analysis, followed by pulsed-field gel electrophoresis (PFGE) of ApaI-digested chromosomal DNA, were highly congruent, with 17 different PFGE types being delineated at a cut-off similarity level of 85%. With few exceptions, multiple isolates from a single hospital belonged to the same PFGE type. Seven sequence groups were identified among the 96 A. baumannii isolates, with the majority of isolates (n = 81) belonging to the previously defined sequence groups 1 and 2, which each included eight PFGE types. These two multinational lineages included the previously defined European clones II and I, respectively, but the problem of resistant A. baumannii in Europe appeared not to be confined solely to these two European clones. Rather, two broader lineages of carbapenem-resistant A. baumannii now seem to be spreading throughout Europe
Magnetic trapping of ultracold neutrons
Three-dimensional magnetic confinement of neutrons is reported. Neutrons are
loaded into an Ioffe-type superconducting magnetic trap through inelastic
scattering of cold neutrons with 4He. Scattered neutrons with sufficiently low
energy and in the appropriate spin state are confined by the magnetic field
until they decay. The electron resulting from neutron decay produces
scintillations in the liquid helium bath that results in a pulse of extreme
ultraviolet light. This light is frequency downconverted to the visible and
detected. Results are presented in which 500 +/- 155 neutrons are magnetically
trapped in each loading cycle, consistent with theoretical predictions. The
lifetime of the observed signal, 660 s +290/-170 s, is consistent with the
neutron beta-decay lifetime.Comment: 17 pages, 18 figures, accepted for publication in Physical Review
Identification of Bacillus spp. from Bikalga, fermented seeds of Hibiscus sabdariffa: phenotypic and genotypic characterization
OXA-51-like β-lactamases and their association with particular epidemic lineages of Acinetobacter baumannii
Use of protein profiles to identify Acinetobacter calcoaceticus in a respiratory care unit.
De novo variants of <em>NR4A2</em> are associated with neurodevelopmental disorder and epilepsy.
Purpose: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. Methods: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher. Results: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was confirmed for eight patients. One variant was demonstrated to affect splicing and result in expression of abnormal transcripts likely subject to nonsense-mediated decay. Conclusion: Our study underscores the importance of NR4A2 as a disease gene for neurodevelopmental disorders and epilepsy. The identified variants are likely causative of the seizures and additional developmental phenotypes in these patients
Loss-of-function variants in <em>MYCBP2</em> cause neurobehavioural phenotypes and corpus callosum defects.
The corpus callosum is a bundle of axon fibers that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnormal axon development. Here, we describe a cohort of eight patients with a neurodevelopmental disorder characterized by a range of deficits including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a distinct de novo variant in MYCBP2, a gene encoding an atypical RING ubiquitin ligase and signaling hub with evolutionarily conserved functions in axon development. We used CRISPR/Cas9 gene editing to introduce disease-associated variants into conserved residues in the C. elegans MYCBP2 ortholog, RPM-1, and evaluated functional outcomes in vivo. Consistent with variable phenotypes in patients with MYCBP2 variants, C. elegans carrying the corresponding human mutations in rpm-1 displayed axonal and behavioral abnormalities including altered habituation. Furthermore, abnormal axonal accumulation of the autophagy marker LGG-1/LC3 occurred in variants that affect RPM-1 ubiquitin ligase activity. Functional genetic outcomes from anatomical, cell biological and behavioral readouts indicate that MYCBP2 variants are likely to result in loss of function. Collectively, our results from multiple human patients and CRISPR gene editing with an in vivo animal model support a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder that we term, MYCBP2-related developmental delay with corpus callosum defects (MDCD)
Possibility for reverse zoonotic transmission of sars-cov-2 to free-ranging wildlife: A case study of bats
10.1371/journal.ppat.1008758PLoS Pathogens169e100875