Objectives: To study the population structure and genomic characteristics, including antimicrobial resistance genes, plasmid types and surface polysaccharide type, of the globally distributed Acinetobacter baumannii belonging to ST32 (Institut Pasteur scheme).
Methods: Antibiotic resistance phenotype for 19 antibiotics was determined using Vitek 2. Whole-genome sequencing was performed using the Illumina MiSeq platform.
Background: RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is hampered by the inability of commonly employed clinical testing methods, including exome sequencing and currently formulated multigene panels, to detect variants in the noncoding region. The relatively high prevalence of this condition, predicted to affect thousands of undiagnosed children with NDDs, makes it even more relevant to have better tools to facilitate diagnosis.
View Article and Find Full Text PDFThe coronavirus disease 2019 (COVID-19) pandemic has driven a broader adoption of telemedicine (TM). We aim to describe adult congenital heart disease (ACHD) patient experiences with TM and explore factors associated with positive attitude toward future TM visits. This is a cross-sectional, single-center study in an outpatient ACHD clinic from February to June, 2022.
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