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Specialization for different memory dimensions in brain activity evoked by cued recollection.
Neuroimage
January 2025
Department of Neuroscience, Imaging and Clinical Sciences, University G. d'Annunzio of Chieti-Pescara, Via dei Vestini 31, 66100, Chieti, Italy; ITAB Institute for Advanced Biomedical Technologies, University G. d'Annunzio of Chieti-Pescara, Via dei Vestini 31, 66100, Chieti, Italy. Electronic address:
Cued recollection involves the retrieval of different features of the encoded event. Previous research has shown that the recollection of complex events jointly recruits the Default Mode and the Frontoparietal Control networks, but the degree to which activity within these networks varies as a function of the particular memory dimension (e.g.
View Article and Find Full Text PDFCould metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A certain clinical need.
Reprod Fertil Dev
January 2025
Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia.
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs.
View Article and Find Full Text PDFUncovering somatic mosaic variants of -related overgrowth disorders - three cases with different clinical presentations.
Front Genet
January 2025
Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.
Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.
Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFExpanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.
J Med Genet
January 2025
Department of Public Health and Pediatric Sciences, University of Turin, Torino, Italy
Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and -related overgrowth spectrum (PROS). However, it can also present as isolated (ILO).
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