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Preimplantation Genetic Testing of Aneuploidies (PGT-A)
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Daniela N. Bakalova, Darren K. Griffin, Maria E. Póo, Alan R. Thornhill
The latest and most frequently applied approach for aneuploidy screening is next-generation sequencing (NGS). This is an umbrella term for recently developed platforms that can generate aneuploidy data from a small number of cells (e.g., from TE biopsies) and are rapid, reliable, accurate, scalable, and thus cost-effective. Most NGS protocols, analogous to aCGH, begin with WGA. Next, a barcoding step is performed with each sample being labeled with a unique identification sequence. Barcoded DNA samples from individual embryos can be pooled together, and processed simultaneously, saving both time and cost. Following sequencing, each sample is aligned to a known reference human genome. Aneuploidies and large deletions and duplications can be identified, and an automated “call” is generated regarding ploidy status at specific chromosomal regions.
Mosaicism Mechanisms in Preimplantation Embryos
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
Maurizio Poli, Antonio Capalbo
Ploidy mosaicism entails the presence of cell lineages with different ploidy levels (i.e., diploid and tetraploid) in the same embryo. This type of mosaicism mainly derives from a cell failing to divide through cytokinesis, thus retaining, e.g., double the number of chromosomes.
Tumors of the Head and Neck
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
The majority (62%) of adenoid cystic carcinomas of the submandibular gland appear to be diploid. Aneuploidy is more frequently encountered in advanced clinical stages, and it seems DNA ploidy measurements may be an effective adjunct to the clinicopathological assessment in this type of tumors.
Discovery of novel thiosemicarbazone derivatives with potent and selective anti-Candida glabrata activity
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2023
Xianru Li, Liping Li, Haonan Zhang, Xiaochen Chi, Yuanying Jiang, Tingjunhong Ni
Unlike C. albicans, C. glabrata always grows as unicellular yeast and also has the ability to form filamentous pseudohyphae but has lost the ability to undergo true hyphal growth7,9,10. Genome sequencing identified that C. glabrata shares a common ancestor with Saccharomyces cerevisiae rather than C. albicans7. The ploidy status of C. glabrata varies dramatically under different conditions, including the ability to switch ploidy between haploid, aneuploid, diploid, and hyper-diploid forms. Variations in ploidy, as well as morphological transitions, contribute to C. glabrata’s ability to develop antifungal resistance10. C. glabrata strains easily and quickly acquire drug resistance to azoles with some strains having intrinsic resistance to azoles11. Moreover, C. glabrata also displays high intrinsic resistance to echinocandins, and polyene-resistant clinical C. glabrata isolates are emerging12,13. Single drug and multi-drug resistance of C. glabrata is becoming increasingly prevalent and difficult to treat. Despite the fact that five classes of antifungal drugs (Figure 1) have been approved for the treatment of IFIs to date (the azoles (6), polyenes (1), flucytosine (1), echinocandins (3) and triterpenoid (1)), the current antifungal arsenal remains inadequate14. Therefore, new antifungal drugs with high potency and novel mechanisms against C. glabrata are urgently needed.
Hepatoprotective effect of the radiation countermeasure flagellin in the long term after irradiation of mice
Published in International Journal of Radiation Biology, 2023
Lyudmila P. Sycheva, Lev M. Rozhdestvenskii, Nina I. Lisina, Tatyana G. Shliakova, Valery V. Zorin, Kseniya Yu. Romanova
The original technique was used for cytome analysis of hepatocytes (Sycheva et al. 2020), including: fixation of liver pieces with 10% formalin for at least 1 month; dissociation of cells with 50% KOH for three hours (37 °C); washing with running water; suspension; staining with aceto-orcein for two hours (37 °C) and light green for 10 seconds (20 °C). This approach made it possible additionally to assess the cytotoxic effect of factors by ploidy and nuclearity of hepatocytes. We analyzed 1000 hepatocytes from each animal on encoded preparations (×1000 magnification). The proportion of cells 2n, (2n + 2n), 4n, (4n + 4n), ≥8n and ≥(8n + 8n) (Figure 1) was determined. Cytogenetic disorders were counted as cells with micronuclei, nuclear buds, and internuclear bridges. The ploidy index was defined as the ratio of the total number of polyploid cells to the total number of diploid cells and the nuclearity index as the ratio of the total number of binuclear cells to the total number of mononuclear cells.
Adult acute lymphoblastic leukemia in a resource-constrained setting: outcomes after expansion of genetic evaluation
Published in Hematology, 2022
Wellington F. Silva, Mariane T. Amano, Luiza L. Perruso, Maria Gabriella Cordeiro, Renata Kiyomi Kishimoto, Aline de Medeiros Leal, Luciana Nardinelli, Israel Bendit, Elvira DRP Velloso, Eduardo M. Rego, Vanderson Rocha
Univariate analysis for OS showed that age, extramedullary disease, and platelet counts at the diagnosis were statistically significant (see supplementary appendix). Multivariable Cox regression showed that extramedullary disease (hazard ratio [HR] 0.42, 95%CI 0.23-0.76, p < 0.01) and platelet counts (HR 0.99, 95% CI 0.99-0.997, p = 0.04) were independently associated with OS. Aiming to analyze the impact of certain genetic subgroups of B-lineage ALL, we divided those cases into five categories: Philadelphia-positive, fusions involving KMT2A, TCF3-PBX1 fusion, Ph-like fusion (fusions encompassing CRLF2, ABL1, FGFR1, or PDGFRB gene) and not specified. Patients with known genetic lesions such as ploidy alterations or complex karyotype were excluded from this analysis due to the low number of subjects. In Figure 3, we display OS and EFS for such subsets. Outcomes for each Ph-like case are depicted in Table 2. Two out of 6 patients with ETP leukemia remained alive after alloHCT in CR1.