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Prenatal diagnosis following preimplantation genetic testing for monogenic conditions: a single centre record linkage study.
J Assist Reprod Genet
January 2025
University of Melbourne, Parkville, Australia, VIC.
Purpose: Professional bodies currently advise all pregnant individuals undertake confirmatory prenatal diagnostic testing following preimplantation genetic testing for monogenic conditions (PGT-M). We aimed to ascertain the uptake of prenatal diagnostic testing following PGT-M in a large single-centre population.
Methods: This observational linkage study was undertaken using routinely collected outcome data from PGT-M cycles performed at one of Australia's largest PGT-M providers and a statewide dataset of all prenatal samples undergoing cytogenetic analysis in Victoria, Australia, between 2015 and 2022.
Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia.
Cells
January 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Acute lymphoblastic leukaemia is the most common childhood malignancy that remains a leading cause of death in childhood. It may be characterised by multiple known recurrent genetic aberrations that inform prognosis, the most common being hyperdiploidy and t(12;21) . We aimed to assess the applicability of a new imaging flow cytometry methodology that incorporates cell morphology, immunophenotype, and fluorescence in situ hybridisation (FISH) to identify aneuploidy of chromosomes 4 and 21 and the translocation .
View Article and Find Full Text PDFSex estimation in a Chilean population by mandibular analysis in cone beam computed tomography images.
BMC Oral Health
January 2025
Applied Morphology Research Center (CIMA), Faculty of Dentistry, Universidad de La Frontera, Temuco, Chile.
Background: Sex estimation is the first stage in the identification of an individual in the forensic context, and can be carried out from bone structures like the mandible. The aim of this study was to estimate sex from metric analysis of the mandible in cone beam computed tomography images (CBCT) of adult Chilean individuals.
Methods: Six mandibular measurements were analysed, five linear and one angular, in CBCT of adult Chilean individuals of both sexes.
The first insight into Acanthocephalus (Palaeacanthocephala) satellitome: species-specific satellites as potential cytogenetic markers.
Sci Rep
January 2025
Department of Experimental Biology, Genetics Area, University of Jaén, Campus Las Lagunillas s/n, 23071, Jaén, Spain.
Acanthocephalan parasites are often overlooked in many areas of research, and satellitome and cytogenetic analyzes are no exception. The species of the genus Acanthocephalus are known for their very small chromosomes with ambiguous morphology, which makes karyotyping difficult. In this study, we performed the first satellitome analysis of three Acanthocephalus species to identify species- and chromosome-specific satellites that could serve as cytogenetic markers.
View Article and Find Full Text PDFHighly multiplexed spatial transcriptomics in bacteria.
Science
January 2025
Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA, USA.
Single-cell decisions made in complex environments underlie many bacterial phenomena. Image-based transcriptomics approaches offer an avenue to study such behaviors, yet these approaches have been hindered by the massive density of bacterial messenger RNA. To overcome this challenge, we combined 1000-fold volumetric expansion with multiplexed error-robust fluorescence in situ hybridization (MERFISH) to create bacterial-MERFISH.
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