Cytogenetic examinations were carried out in 40 children with acute leukaemia. In 18 cases karyotype changes were demonstrated, in 8 cases the karyotype was normal, in 14 cases no cell division was obtained and these patients were excluded from further analysis. In the group with karyotype changes in most cases poor prognosis indices were found, including high number of blasts, extramedullary presence of leukaemic infiltrations and FAB L2 or L3. Chromosomal abnormalities included presence of aberrations in the form of translocation, mosaicism of karyotypes with nearly tetraploidy line, accessory marker chromosomes and other anomalies. In this group 8 children died (30% of all observed cases), while in the group without karyotype changes 2 children died (about 8%). In summary the authors stress the correlation between the presence of clinical prognostic factors (risk factors) and karyotype changes and worse prognosis in cases with chromosomal abnormalities. Attention is called to the great usefulness of cytogenetic examinations in the prognosis and treatment of leukaemias in children.
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Biomedicines
November 2024
Hospital Ophir Loyola, Belém 66063-240, Brazil.
Acute lymphoblastic leukemia (ALL) is an aggressive neoplasm derived from B and/or T cell lineage (B-ALL; T-ALL). For the first time, this study describes, cytogenetically, the karyotypic alterations in adults with ALL in the northern region of Brazil and their relationship with hematological and biochemical characteristics. Through banding analyses, immunophenotyping, as well as hematological and biochemical examination data obtained directly from patients' records, we found that chromosome 21 aneuploidy was the most frequent.
View Article and Find Full Text PDFNew Phytol
January 2025
Department of Chromosome Biology, Max Planck Institute for Plant Breeding Research, Carl-von-Linné-Weg 10, 50829, Cologne, Germany.
Karyotype changes are a formidable evolutionary force by directly impacting cross-incompatibility, gene dosage, genetic linkage, chromosome segregation, and meiotic recombination landscape. These changes often arise spontaneously and are commonly detected within plant lineages, even between closely related accessions. One element that can influence drastic karyotype changes after only one (or few) plant generations is the alteration of the centromere position, number, distribution, or even its strength.
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.
Purpose: We aimed to investigate possible hormonal changes following microdissection testicular sperm extraction (mTESE) in men with non-obstructive azoospermia (NOA) across three referral centers.
Materials And Methods: We prospectively analyzed data from 102 consecutive NOA men. Patients with prior hormonal therapies were excluded.
BMC Pregnancy Childbirth
December 2024
Reproductive Medicine Center, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Objective: To explore the biological relationship between the regulatory signal pathways involved in differentially expressed genes and recurrent spontaneous abortion (RSA) by analyzing the gene expression microarray data of unexplained RSA.
Methods: The gene expression profile data of chorionic villi from unexplained recurrent abortion with normal karyotype and selective induced abortion were compared. Differentially expressed genes were analyzed by the "Limma" package in R Studio, and Gene Ontology(GO) and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment analysis were carried out with "Cluster Profiler" and "org.
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