Infertility has emerged as a significant public health concern, with assisted reproductive technology (ART) is a last-resort treatment option. However, ART's efficacy is limited by significant financial cost and physical discomfort. The aim of this study is to build Machine learning (ML) decision-support models to predict the optimal range of embryo numbers to transfer, using data from infertile couples identified through literature reviews. Binary classification models were developed to classify cases into two groups: those transferring two or fewer embryos and those transferring three or four. Four popular ML algorithms were used, including random forest (RF), logistic regression (LR), support vector machine (SVM), and artificial neural network (ANN), considering seven criteria: the woman's age, sperm origin, the developmental qualities of four potential embryos, infertility duration, assessment of the woman, morphological qualities of the four best embryos on the day of transfer, and number of oocytes extracted. The stratified 3-fold cross-validation results show that the SVM model obtained the highest average accuracy (95.83%) and demonstrated the best overall performance, closely followed by the ANN and LR models with an average accuracy equal to 91.67%. The RF model achieved a slightly lower average accuracy (88.89%), which demonstrated the lowest variability. Testing on a new dataset revealed all models performed well, with ANN and SVM models classified all test set instances correctly, while the RF and LR models achieved 91.68% accuracy. These results highlight the superior generalization and effectiveness of the ANN and SVM models in guiding ART decisions.
- Klíčová slova
- Artificial neural network, assisted reproductive technology, embryo transfer, infertility, multi-criteria decision aiding, number of embryos,
- MeSH
- asistovaná reprodukce MeSH
- dospělí MeSH
- infertilita terapie diagnóza MeSH
- lidé MeSH
- neuronové sítě MeSH
- přenos embrya * metody MeSH
- strojové učení * MeSH
- support vector machine MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Interspecific hybridization leads to complex interactions between the parental genomes, often in the form of genome dominance, where one genome prevails over the other. This phenomenon has been attributed to differential chromosome behavior during meiotic division and may involve either female or male meiosis, or both. In hybrids of Allium cepa × A. roylei, only female meiosis is involved, favoring the transmission of A. roylei chromosomes; male meiosis leads to the development of gametes with equal proportion of parental genomes. Female meiotic drive shifts the genome composition from 8R (A. roylei) + 8C (A. cepa) chromosomes in F1 to 9.3R + 6.7C in F2. In this study of two successive backcross generations with A. cepa (BC1 [first backcross generation] and BC1F1 [progeny after intercross of the first backcross generation]), we observed a change in genome dominance: the A. roylei genome, initially dominant during the meiosis in the F1 hybrids, became submissive in BC1, resulting in a genome composition skewed toward A. cepa. Among 23 BC1 and 236 BC1F1 plants, we observed a significant deviating trend of gradual reduction in A. roylei chromosome representation. The reduction was higher in the lineages with more unequal starting proportion of the parental genomes. This study highlights the dynamic nature of genomic interactions in hybrids and raises questions about the underlying molecular mechanisms driving these changes in dominance, as well as the potential for manipulating these interactions for agricultural benefit. Further exploration of the chromosomal behavior during meiosis across various hybrids will deepen our understanding of non-Mendelian inheritance patterns and their implications in plant breeding.
Polyploidisation is a significant reproductive barrier, yet genetic evidence indicates that interploidy admixture is more common than previously thought. Theoretical models and controlled crosses support the 'triploid bridge' hypothesis, proposing that hybrids of intermediate ploidy facilitate gene flow. However, comprehensive evidence combining experimental and genetic data from natural mixed-ploidy species is missing. Here, we investigated the rates and directionality of gene flow within a diploid-autotetraploid contact zone of Cardamine amara, a species with abundant natural triploids. We cytotyped over 400 individuals in the field, conducted reciprocal interploidy crosses, and inferred gene flow based on genome-wide sequencing of 84 individuals. Triploids represent a conspicuous entity in mixed-ploidy populations (5%), yet only part of them arose through interploidy hybridisation. Despite being rarely formed, triploid hybrids can backcross with their parental cytotypes, producing viable offspring that are often euploid (in 42% of cases). In correspondence, D-statistics and coalescent simulations documented a significant genome-wide signal of bidirectional gene flow in sympatric but not allopatric populations. Triploids, though rare, thus seem to play a key role in overcoming polyploidy-related reproductive barriers in C. amara. In sum, we present integrative evidence for interploidy gene flow mediated by a triploid bridge in natural populations.
- Klíčová slova
- introgression, polyploidy, population genomics, speciation, whole genome duplication,
- MeSH
- Cardamine * genetika MeSH
- genová introgrese * MeSH
- hybridizace genetická MeSH
- modely genetické MeSH
- ploidie MeSH
- populační genetika * MeSH
- sympatrie genetika MeSH
- tok genů * MeSH
- triploidie * MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION AND OBJECTIVE: Uterine NK (uNK) cells, a specialized subpopulation of natural killer (NK) lymphocytes located in the endometrium, play a crucial role in regulating the immune response and in the process of embryo implantation. This study aims to retrospectively analyze the outcomes of in vitro fertilization (IVF) treatment in a cohort of women who underwent uNK cell immunophenotyping with subsequent immunomodulatory therapy applied based on the results. METHODS: The study included 122 patients who underwent uNK cell immunophenotyping between April and December 2023. Immunophenotyping was performed using flow cytometry. Patients were categorized into four groups according to their uNK cell phenotypes: normal findings, low absolute and relative numbers of uNK cells (LOW-IMMUNE profile), low numbers of uNK cells combined with the shift towards the cytotoxic uNKc dim immunophenotype (MIXED-IMMUNE profile), and normal numbers of uNK cells, but an undesirable shift in the ratio of cytotoxic to regulatory uNK cells towards the cytotoxic uNK dim phenotype (OVER-IMMUNE profile). Embryo transfer outcomes and the occurrence of miscarriages up to the 12th week of pregnancy were evaluated in each group. RESULTS: The highest clinical pregnancy rate was observed in the treated OVER-IMMUNE group (70%), fol lowed by the MIXED-IMMUNE group (60%). The LOW-IMMUNE group did not differ significantly from the untreated NORMAL group (P = 0.205). Insufficient immune activation (LOW-IMMUNE profile) was significantly associated with first-trimester pregnancy loss (P < 0.0001). CONCLUSION: This study provides new insights into the potential benefits of uNK cell immunophenotyping and subsequent immunomodulatory therapy in treating fertility disorders. While the results indicate possible clinical advantages, further research is necessary to confirm these findings and elucidate the mechanisms leading to improved outcomes in assisted reproductive techniques.
- Klíčová slova
- In vitro fertilization, habitual miscarriage, immunomodulatory therapy, in vitro fertilization, lymphocyte immunophenotyping, recurrent implantation failure, uterine NK cells,
- MeSH
- buňky NK * imunologie MeSH
- dospělí MeSH
- fertilizace in vitro * MeSH
- imunofenotypizace * MeSH
- klinická relevance MeSH
- lidé MeSH
- retrospektivní studie MeSH
- těhotenství MeSH
- úhrn těhotenství na počet žen v reprodukčním věku MeSH
- uterus imunologie patologie MeSH
- ženská infertilita imunologie terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIM: To describe coping strategies and infertility stress in men and women undergoing in vitro fertilization (IVF) treatment. To determine whether there are differences in coping strategies between men and women and to identify adaptive and non-adaptive coping strategies for infertility. MATERIALS AND METHODS: A correlational study, where 162 patients (99 women and 63 men) with primary infertility undergoing IVF treatment at Sanus Pardubice completed the Fertility Problem Inventory and COPE Inventory psychological questionnaires. RESULTS: There were no significant differences between women and men in experiencing infertility stress. The coping strategies used most frequently by both men and women were Positive Reinterpretation, Planning, and Acceptance; men used the strategies Restraint, Suppression, and Planning significantly more frequently than women; and women used the strategies Using Emotional Social Support and Religious Coping significantly more frequently than men. For both women and men, level of Global infertility stress significantly correlated with Denial in the positive direction and with Positive Reinterpretation and Acceptance in the negative direction. CONCLUSION: Involuntarily childless women and men in IVF treatment experience similar infertility stress, but use slightly different coping strategies. For both men and women, Positive Reinterpretation and Acceptance emerged as adaptive strategies, while Denial emerged as non-adaptive.
- Klíčová slova
- IVF treatment, coping strategies, gender differences, stress,
- MeSH
- adaptace psychologická * MeSH
- copingové dovednosti MeSH
- dospělí MeSH
- fertilizace in vitro * psychologie MeSH
- infertilita * psychologie terapie MeSH
- lidé MeSH
- mužská infertilita psychologie terapie MeSH
- průzkumy a dotazníky MeSH
- psychický stres * psychologie MeSH
- ženská infertilita psychologie terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Restricted range size brings about noteworthy genetic consequences that may affect the viability of a population and eventually its extinction. Particularly, the question if an increase in inbreeding can avert the accumulation of genetic load via purging is hotly debated in the conservation genetic field. Insular populations with limited range sizes represent an ideal setup for relating range size to these genetic factors. Leveraging a set of eight differently sized populations of Galápagos mockingbirds (Mimus), we investigated how island size shaped effective population size (Ne), inbreeding and genetic load. We assembled a genome of M. melanotis and genotyped three individuals per population by whole-genome resequencing. Demographic inference showed that the Ne of most populations remained high after the colonisation of the archipelago 1-2 Mya. Ne decline in M. parvulus happened only 10-20 Kya, whereas the critically endangered M. trifasciatus showed a longer history of reduced Ne. Despite these historical fluctuations, the current island size determines Ne in a linear fashion. In contrast, significant inbreeding coefficients, derived from runs of homozygosity, were identified only in the four smallest populations. The index of additive genetic load suggested purging in M. parvulus, where the smallest populations showed the lowest load. By contrast, M. trifasciatus carried the highest genetic load, possibly due to a recent rapid bottleneck. Overall, our study demonstrates a complex effect of demography on inbreeding and genetic load, providing implications in conservation genetics in general and in a conservation project of M. trifasciatus in particular.
- Klíčová slova
- conservation genetics, demographic inference, genetic diversity, genetic load,
- MeSH
- genetická zátěž * MeSH
- genom genetika MeSH
- genotyp MeSH
- hustota populace * MeSH
- inbreeding * MeSH
- ostrovy * MeSH
- Passeriformes genetika MeSH
- populační genetika * MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Ekvádor MeSH
- ostrovy * MeSH
Smooth endoplasmic reticulum aggregates (SERa) are a type of dysmorphism in oocytes derived from controlled ovarian stimulation (COS). The effect of SERa on assisted reproductive techniques (ART) outcomes is debatable. Based on some evidence, SERa-positive (SERa+) oocytes cause complications including newborn demise, and compromise the outcome of the unaffected oocytes of the same cycle. While other reports demonstrated equal developmental competence between SERa + and SERa-negative (SERa-) oocytes/cycles. We conducted a prospective cross-sectional study on 315 women candidates for ART and compared the outcome among SERa+ (N = 73) and SERa- cycles (N = 217). Furthermore, for the first time, we investigated the prevalence of SERa + cycles in women with various infertility etiologies. Our results indicated that SERa + patients presented higher levels of Estradiol on the day of ovulation triggering (p = 0.02). Regarding the ART outcome, there were no differences in the number of retrieved oocytes, oocyte maturation and fertilization rates among the groups. However, the quality of the unaffected oocytes (p = 0.03), the rates of day-3 top-quality embryos (p = 0.01, and p = 0.03 for grades A and B, respectively), and clinical pregnancy (p = 0.05) in SERa + group were significantly reduced. Moreover, the prevalence of SERa + cycles gradually increased among endometriosis, POI/POR, PCOS, normal women, tubal factor, and idiopathic groups. Our study suggests that suboptimal situations such as elevated levels of Estradiol can increase the occurrence of SERa + oocytes. This suboptimal phenomenon can negatively influence the outcome of the cycle. Thus, optimization of COS, particularly in vulnerable groups such as women with idiopathic infertility may lower the SERa + cycle occurrence, improving the ART outcome.
- Klíčová slova
- ART outcome., Assisted reproductive techniques, Infertility, Oocyte, Smooth endoplasmic reticulum aggregates,
- MeSH
- asistovaná reprodukce škodlivé účinky MeSH
- dospělí MeSH
- hladké endoplazmatické retikulum * metabolismus MeSH
- indukce ovulace * škodlivé účinky MeSH
- lidé MeSH
- oocyty * MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- těhotenství MeSH
- úhrn těhotenství na počet žen v reprodukčním věku MeSH
- ženská infertilita * patologie etiologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Most species of migrating birds use a combination of innate vector-based orientation programs and social information to facilitate accurate navigation during their life. A number of various interspecies hybridisations have been reported in birds. The traits of parents are expressed in hybrids in typical ways which are either intermediate, combined or heterotic. Here, we analyse the different migration behaviours of medium-sized raptors, i.e., Red Kites Milvus milvus, Black Kites Milvus migrans, and their hybrids. We chose six well-established parameters to compare the behaviour of Kite hybrids with those of both parental species. When comparing 16 quantified behavioural characteristics between Red Kites and F1 hybrids and between Black Kites and F1 hybrids, significant differences were found in 10 characteristics between Red Kites and F1 hybrids but only one of the 16 characteristics between Black Kites and F1 hybrids. Hence, F1 hybrid individuals showed behaviour much more similar to Black Kites than Red Kites. It implies that the basis of the migratory behaviour of Kites is an innate program with the dominance of genetic determinants supplemented by the use of social learning from individuals of the parent species.
- Klíčová slova
- Milvus migrans, Milvus milvus, Black Kite, Hybridisation, Migration, Red Kite,
- MeSH
- dravci * genetika fyziologie MeSH
- hybridizace genetická MeSH
- migrace zvířat * fyziologie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Obligatory parthenogenesis in vertebrates is restricted to squamate reptiles and evolved through hybridisation. Parthenogens can hybridise with sexual species, resulting in individuals with increased ploidy levels. We describe two successive hybridisations of the parthenogenetic butterfly lizards (genus Leiolepis) in Vietnam with a parental sexual species. Contrary to previous proposals, we document that parthenogenetic L. guentherpetersi has mitochondrial DNA and two haploid sets from L. guttata and one from L. reevesii, suggesting that it is the result of a backcross of a parthenogenetic L. guttata × L. reevesii hybrid with a L. guttata male increasing ploidy from 2n to 3n. Within the range of L. guentherpetersi, we found an adult tetraploid male with three L. guttata and one L. reevesii haploid genomes. It probably originated from fertilisation of an unreduced triploid L. guentherpetersi egg by a L. guttata sperm. Although its external morphology resembles that of the maternal species, it possessed exceptionally large erythrocytes and was likely sterile. As increased ploidy level above triploidy or tetraploidy appears to be harmful for amniotes, all-female asexual lineages should evolve a strategy to prevent incorporation of other haploid genomes from a sexual species by avoiding fertilisation by sexual males.
- Klíčová slova
- Leiolepis, Hybridisation, Meiosis, Parthenogenesis, Tetraploidy, Vietnam,
- MeSH
- hybridizace genetická MeSH
- ještěři * genetika MeSH
- mitochondriální DNA genetika MeSH
- partenogeneze * genetika MeSH
- tetraploidie * MeSH
- triploidie * MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- mitochondriální DNA MeSH
Background/Objectives: The domestication of the grey wolf (Canis lupus) and subsequent creation of modern dog breeds have significantly shaped the genetic landscape of domestic canines. This study investigates the genomic effects of hybridization and breeding management practices in two hybrid wolfdog breeds: the Czechoslovakian Wolfdog (CSW) and the Saarloos Wolfdog (SAW). Methods: We analyzed the genomes of 46 CSWs and 20 SAWs, comparing them to 12 German Shepherds (GSHs) and 20 wolves (WLFs), which served as their ancestral populations approximately 70-90 years ago. Results: Our findings highlight that hybridization can increase genetic variability and mitigate the effects of inbreeding, as evidenced by the observed heterozygosity levels in both wolfdog breeds. However, the SAW genome revealed a higher coefficient of inbreeding and longer runs of homozygosity compared to the CSW, reflecting significant inbreeding during its development. Discriminant Analysis of Principal Components and fixation index analyses demonstrate that the CSW exhibits closer genetic proximity to the GSH than the SAW, likely due to differences in the numbers of GSHs used during their creation. Maximum likelihood clustering further confirmed clear genetic differentiation between these hybrid breeds and their respective ancestors, while shared ancestral polymorphism was detectable in all populations. Conclusions: These results highlight the role of controlled hybridization with captive-bred wolves and peculiar breeding strategies in shaping the genetic structure of wolfdog breeds. To ensure the long-term genetic health of these breeds, it is recommended to promote adequate and sustainable breeding practices to maintain genetic diversity, minimize inbreeding, and incorporate the careful selection of unrelated individuals from diverse lineages, while avoiding additional, uncontrolled crossings with wild wolves.
- Klíčová slova
- artificial selection, heterosis, hybridization, inbreeding, wolfdog,
- MeSH
- chov metody MeSH
- domestikace MeSH
- genetická variace MeSH
- genom genetika MeSH
- genomika metody MeSH
- hospodářská zvířata genetika MeSH
- hybridizace genetická * MeSH
- inbreeding MeSH
- psi genetika MeSH
- selekce (genetika) MeSH
- vlci * genetika MeSH
- zvířata MeSH
- Check Tag
- psi genetika MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
