Publications by authors named "Aurore Perrin"
Article Synopsis
- Reciprocal translocation (RT) carriers have a higher risk of infertility, miscarriages, and children with health issues due to the production of unbalanced gametes.
- Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) can help minimize these risks, but there are concerns about the effectiveness of sperm fluorescence in situ hybridization (spermFISH) as a diagnostic tool for RT carriers.
- A study of 41 RT carriers indicated that acrocentric chromosomes lead to more unbalanced gametes, and the variability in balanced sperm rates suggests that using spermFISH routinely may not be beneficial for these patients.
Article Synopsis
- * The review explores TRD in various mammals, focusing on gamete formation differences in house mice and examples in other species, including farmed animals and the common shrew.
- * Understanding TRD helps clarify its implications for fertility, genome evolution, and could enhance genetic counseling and improve care for families.
Many studies failed to show a predictive impact of AMH levels on the chances of pregnancy; however, acceptable pregnancy rates for young women with low AMH levels were observed in IVF + / - ICSI. The objectives of this retrospective study were to evaluate the clinical pregnancy and live birth rates in the first IVF + / - ICSI cycle in women under 38 years old with AMH level < 1.2 ng/ml and to determine the arguments for care.
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- * 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.
Aspergillus spp. are well-known producers of pectinases commonly used in the industry. Aspergillus aculeatinus is a recently identified species but poorly characterized.
View Article and Find Full Text PDFRhamnogalaturonans I (RGI) pectins, which are a major component of the plant primary cell wall, can be recalcitrant to digestion by commercial enzymatic cocktails, in particular during fruit juice clarification process. To overcome these problems and get better insights into RGI degradation, three RGI degrading enzymes (RHG: Endo-rhamnogalacturonase; ABF: α-Arabinofuranosidases; GAN: Endo-β-1,4-galactanase) from Aspergillus aculeatinus were expressed in Pichia pastoris, purified and fully biochemically characterized. All three enzymes showed acidic pH optimum, and temperature optima between 40-50 °C.
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- - Teratozoospermia is when over 85% of sperm cells have abnormal shapes, with monomorphic teratozoospermia being a rare subset that includes macrozoospermia and globozoospermia, each representing less than 1% of male infertility cases.
- - Macrozoospermia features sperm with enlarged heads and multiple tails, while globozoospermia consists of round-headed sperm lacking an acrosome, and both conditions show high rates of chromosomal abnormalities and DNA fragmentation compared to fertile men.
- - Genetic mutations in key genes have been identified as causes of both conditions, which is crucial for improving diagnosis and treatment options, especially since current fertility treatments like intracy
Article Synopsis
- This study investigates the meiotic segregation of sperm in men with sex chromosome mosaicism, specifically those with a 45,X cell line.
- Using fluorescence in situ hybridization (FISH) and DNA fragmentation tests, researchers found higher rates of abnormal sperm (XY disomy) in two out of three patients.
- However, the rates of DNA fragmentation in sperm were similar to those in a control group, and existing literature on this topic is limited, complicating comparisons across cases.
Article Synopsis
- - The couple had a 4-year struggle with infertility, and the man was diagnosed with oligoasthenozoospermia (low sperm count and motility).
- - Genetic testing revealed an unusual chromosome (supernumerary marker chromosome) related to chromosome 22 and a 15.6% chance of sperm carrying this abnormality.
- - Despite the potential genetic risks, the couple chose not to undergo prenatal testing and successfully welcomed a healthy baby through Intracytoplasmic Sperm Injection (ICSI).
Objective: To characterize a t(2;6) by array-based comparative genomic hybridization (array-CGH) in a couple with recurrent miscarriage, to analyze the meiotic segregation of the t(2;6), and to discuss couple specific care-taking modality before intracytoplasmic sperm injection.
Design: Case report.
Setting: INSERM U613 in Brest, France.
The aim of this study was to analyse and compare the meiotic segregation of X-autosome translocation in two male carriers and to discuss couple-specific treatment modality before intracytoplasmic sperm injection (ICSI). Meiotic segregation was analysed by fluorescence in-situ hybridization (FISH) in spermatozoa of two men who were carriers of a X-autosome translocation: 46,Y,t(X;2)(p21;p25.3) (patient 1) and 46,Y,t(X;18)(qll;pl1.
View Article and Find Full Text PDFNK-cell function is regulated by a balance between inhibitory and activating killer cell immunoglobulin-like receptors (KIR) that specifically recognize HLA class I molecules. Using KIR-specific mAb to discriminate between KIR2DS1 and KIR2DL1 receptors, we show that KIR2DS1(+) NK cells are C2-alloreactive only from C2(-) individuals. Moreover, using an in vitro model of NK-cell expansion, we show here that the frequency of KIR2DL1(+) NK cells is significantly higher in the absence of C2 ligand on stimulator EBV-B cells than in its presence.
View Article and Find Full Text PDFObjective: To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality.
Design: Case series.
Setting: University hospital.
Objective: To determine the meiotic segregation in large-headed, multiple-tailed spermatozoa.
Design: Analysis of sperm nuclei by fluorescence in situ hybridization (FISH).
Setting: University hospital.
Objective: To determine the meiotic segregation of a pericentric inversion of chromosome 8 in three carriers.
Design: Analysis of sperm nuclei by fluorescence in situ hybridization (FISH).
Setting: University hospital.