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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
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 PDFAssociation of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India.
Asian Pac J Cancer Prev
January 2025
Principal Scientific Officer & Molecular Advisor, Rajiv Gandhi Cancer Institute & Research Centre, New Delhi, India.
Chronic lymphocytic leukemia (CLL) is a less common hematological malignancy in Indian people. It accounts for less than 5% of all leukemias. Information on genomic alteration in CLL is limited immunoglobulin heavy-chain variable region (IGHV) mutational status is considered the most reliable prognostic marker.
View Article and Find Full Text PDFChromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study.
Prenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
Involvement of nuclear atrophy of binucleated hepatocytes in the large micronucleus formation induced by rat hepatocarcinogen acetamide.
Toxicol Appl Pharmacol
January 2025
Division of Pathology, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki-shi, Kanagawa 210-9501, Japan.
Acetamide is a hepatocarcinogen in rats. We previously revealed that acetamide induces characteristic large micronuclei in rat liver, suggesting the possible involvement of chromosome aberrations in acetamide-induced hepatocarcinogenesis. To elucidate the mechanism of large micronuclei formation, in this study we examined time-dependent changes in rat hepatocytes after administration of acetamide.
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