Triploidy is often associated with early abortions, but may evolve during the second trimester taking a peculiar phenotype. The conditions of diagnosis or abortion do not always let the possibility of karyotyping. Thus, DNA quantification takes all its value. Twenty-three fetuses and placentas, ranging from 14 to 30 weeks of gestation with a phenotype of triploidy were analysed. Twelve cases were proved by karyotype. The DNA index studied in 6 of these was near 1.5, which confirmed the validity of the technique. Out of 11 phenotypes without karyotyping, DNA analysis identified 4 triploidies and a possible tetraploidy. So, a series of 16 cases could be collected, including 10 partial hydatidiform moles and 6 hypotrophic or normal fetuses and placentas.
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Arch Orthop Trauma Surg
January 2025
Department of Orthopaedics and Trauma, Medical University of Graz, Auenbruggerplatz 5, 8036, Graz, Austria.
Introduction: Liquid biopsy as a non-invasive method to investigate cancer biology and monitor residual disease has gained significance in clinical practice over the years. Whilst its applicability in carcinomas is well established, the low incidence and heterogeneity of bone and soft tissue sarcomas explains the less well-established knowledge considering liquid biopsy in these highly malignant mesenchymal neoplasms.
Materials And Methods: A systematic literature review adhering to the PRISMA guidelines initially identified 920 studies, of whom 68 original articles could be finally included, all dealing with clinical applicability of liquid biopsy in sarcoma.
NAR Genom Bioinform
March 2025
School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.
Carcinogenesis often involves significant alterations in the cancer genome, marked by large structural variants (SVs) and copy number variations (CNVs) that are difficult to capture with short-read sequencing. Traditionally, cytogenetic techniques are applied to detect such aberrations, but they are limited in resolution and do not cover features smaller than several hundred kilobases. Optical genome mapping (OGM) and nanopore sequencing [Oxford Nanopore Technologies (ONT)] bridge this resolution gap and offer enhanced performance for cytogenetic applications.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Engelhardt Institute of Molecular Biology of Russian Academy of Sciences, 119991 Moscow, Russia.
L. and L. are valuable and promising food crops for multi-purpose use that are distributed worldwide in temperate, subtropical, and tropical zones.
View Article and Find Full Text PDFAnimals (Basel)
December 2024
State Key Laboratory of Freshwater Ecology and Biotechnology, Hubei Hongshan Laboratory, The Innovation Academy of Seed Design, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China.
Crossbreeding is a traditional breeding technique and has been performed successfully in many fish species. However, distant hybridization between different genera is hard to be successful because of reproductive isolation. In this study, diploid hybrids (PL) were successfully derived from the hybridization of Ussuri catfish (, PU, ♀, 2n = 52) and longsnout catfish (, LL, ♂, 2n = 52).
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Medical Genetics Laboratory, Shiraz Fertility Center, Shiraz, Iran.
Purpose: Preimplantation aneuploidy in humans is one of the primary causes of implantation failure and embryo miscarriage. This study was conducted to gain insight into gene expression changes that may result from aneuploidy in blastocysts through RNA-Seq analysis.
Methods: The surplus embryos of preimplantation genetic testing for aneuploidy (PGT-A) candidate couples with normal karyotype and maternal age < 38 were collected following identical ovarian stimulation protocol.
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