Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XX; 47,XX, +9; and 47,XX, +del(9) (q11) in different tissues (placenta, lung, gonad, and skin).
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http://dx.doi.org/10.1002/pd.1970130308 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
Purpose: To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
Methods: A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria.
mSystems
January 2025
Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.
Average nucleotide identity (ANI) is a widely used metric to estimate genetic relatedness, especially in microbial species delineation. While ANI calculation has been well optimized for bacteria and closely related viral genomes, accurate estimation of ANI below 80%, particularly in large reference data sets, has been challenging due to a lack of accurate and scalable methods. To bridge this gap, we introduce MANIAC, an efficient computational pipeline optimized for estimating ANI and alignment fraction (AF) in viral genomes with divergence around ANI of 70%.
View Article and Find Full Text PDFPLoS Pathog
January 2025
Department of Microbiology, Faculty of Science, University of Manitoba, Winnipeg, Manitoba, Canada.
RNA viruses have evolved numerous strategies to overcome host resistance and immunity, including the use of multifunctional proteases that not only cleave viral polyproteins during virus replication but also deubiquitinate cellular proteins to suppress ubiquitin (Ub)-mediated antiviral mechanisms. Here, we report an approach to attenuate the infection of Arabidopsis thaliana by Turnip Yellow Mosaic Virus (TYMV) by suppressing the polyprotein cleavage and deubiquitination activities of the TYMV protease (PRO). Performing selections using a library of phage-displayed Ub variants (UbVs) for binding to recombinant PRO yielded several UbVs that bound the viral protease with nanomolar affinities and blocked its function.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
University of California Irvine, Irvine, California, USA.
Introduction: Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40.
Methods: We present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition.
AIDS Res Hum Retroviruses
January 2025
Clinical Laboratory of the People's Hospital of Baoding, Baoding, China.
The global human immunodeficiency virus 1 (HIV-1) pandemic is driven by the extraordinary genetic diversity of the virus, largely resulting from frequent recombination events. These events generate circulating recombinant forms (CRFs) and unique recombinant forms, which significantly contribute to the complexity of HIV-1 epidemiology, especially within key populations, such as men who have sex with men (MSM). Here, we identified three novel HIV-1 recombinant strains consisting of the CRF01_AE and CRF07_BC subtypes from HIV-positive MSM in Baoding City, Hebei Province, China.
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