Publications by authors named "N Gueganic"
Article Synopsis
- * This study focused on an infertile couple, analyzing the male partner's sperm using multicolor FISH to investigate the meiotic segregation of a specific sSMC derived from chromosome 15.
- * The analysis showed that only 0.66% of the sperm contained the sSMC, indicating a low risk of chromosomal issues in offspring, leading to a successful natural pregnancy resulting in a healthy baby.
Article Synopsis
- A study examined whether magnetic-activated cell sorting (MACS) can effectively select sperm with lower DNA fragmentation and chromosomal abnormalities in men with high sperm DNA fragmentation rates.
- Six males' cryopreserved sperm were analyzed, differentiating between nonapoptotic and apoptotic sperm populations using various labeling techniques.
- Results indicated that the apoptotic sperm had higher rates of DNA fragmentation and chromosomal abnormalities, while the nonapoptotic sperm showed significant reductions in these issues, suggesting that MACS could be beneficial for improving sperm quality.
Background: We showed that in men with a constitutional chromosomal abnormality, DNA fragmentation was significantly higher in chromosomally unbalanced spermatozoa than in spermatozoa with a normal or balanced chromosomal content. These results could be explained by a phenomenon already described in infertile men: abortive apoptosis.
Objectives: To determine whether magnetic-activated cell separation could select spermatozoa with lower levels of DNA fragmentation and unbalanced chromosome content in men carrying a structural chromosomal abnormality.
Article Synopsis
- Inv(16)(p13q22) and t(16;16)(p13;q22) are key genetic markers in acute myelomonoblastic leukaemia (FAB AML-M4Eo), often linked to abnormal eosinophils and a better prognosis.
- These genetic abnormalities typically produce a fusion gene (CBFB-MYH11), but some cases show normal karyotypes despite the presence of the fusion transcript.
- A case study of a 32-year-old woman with AML-M4Eo revealed unusual genetic details, prompting the need for thorough investigations in patients with conflicting results between cytology and cytogenetics due to potential treatment implications.
Article Synopsis
- * In a study from 2000 to 2014, translocations were found in 4.6% of patients at diagnosis and in 6.2% during follow-up, with the IG heavy locus being the most frequently involved.
- * CLL cases with IG translocations tend to have unique cell features and a generally poor prognosis, emphasizing the need for testing and identifying these translocations to tailor treatment strategies effectively.