To study whether male factor infertility and insomnia share genetic risk variants and identify any molecular, cellular, and biologic interactions between these traits.
The in silico study was performed. Two lists of genetic variants were manually curated through a literature review, one of those associated with male factor infertility and the other with insomnia. Genes were assigned to these variants to compose male factor infertility–associated (454 genes) and insomnia-associated (921 genes) gene lists.
Not applicable.
Not applicable.
Not applicable.
Enrichment of biologic pathways and protein-protein interaction analysis.
Twenty-eight genes were common to both lists, representing a greater overlap than would be expected by chance. In the 28 genes contained in the intersection list, there was a significant enrichment of pathways related to kinesin binding. A protein-protein interaction analysis using the intersection list as input retrieved 25 nodes and indicated that two of them were kinesin-related proteins (PLEKHM2 and KCL1).
The shared male factor infertility and insomnia genes, and the biologic pathways highlighted in this study, suggest that further functional investigations into the interplay between fertility and sleep are warranted.
To study the identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women (TGW) and their potential role in gender identity.
Exome sequencing and functional ontology analysis.
Outpatient gender health and reproductive endocrinology clinics.
A total of 24 TGW and 22 cisgender men (CM).
Exome sequencing followed by variant confirmation through Sanger sequencing and functional classification analysis using the Database for Annotation, Visualization, and Integrated Discovery tool.
Identification of rare, functionally significant genetic variants in the PCDH gene family and their prevalence in TGW compared with CM.
Exome sequencing revealed 38,524 genetic variants, of which 2,441 were rare and predicted to be functionally significant. The Database for Annotation, Visualization, and Integrated Discovery analysis demonstrated a statistically enriched functional group, “homophilic cell adhesion via plasma membrane adhesion molecules,” containing 55 genes, including 18 PCDH gene family members. A total of 37 rare variants in 21 PCDH genes were identified, with 36 confirmed using Sanger sequencing. A statistically significant increase in these variants was observed in TGW compared with CM (Z = 2.08905).
Transgender women exhibited a greater than threefold increase in functionally significant PCDH gene variants compared with CM. These findings suggest that the PCDH family may play a role in the genetic pathways associated with gender identity in TGW.
To compare the morphokinetic patterns of human embryos originating from vitrified oocytes (VITRI group) with those derived from freshly collected oocytes (CONTROL group) in oocyte donation cycles.
This is a retrospective observational study.
Embryolab Fertility Clinic, Embryology Lab, Thessaloniki, Greece.
The study included embryos from 421 vitrified oocytes from 58 oocyte donation cycles and 196 fresh oocytes from 23 oocyte donation cycles.
None.
Key time parameters, dynamic events, fertilization rates, degeneration rates, cleavage rates, blastocyst rates, pregnancy rates, clinical pregnancy rates, implantation rates, and live birth rates were estimated.
The mean survival rate of vitrified oocytes was 92.58% (±7.42%). Fertilization rates were significantly different between the 2 groups (VITRI group: 71.92% ± 20.29% and CONTROL group: 80.65% ± 15.22%) whereas the degeneration, cleavage, blastocyst, pregnancy, clinical pregnancy, ongoing pregnancy, implantation, and live birth rates were not significantly different between embryos derived from fresh or vitrified oocytes. Time-lapse analysis showed no significant difference in any key time parameter. However, when examining dynamic parameters, first cell cycle (CC1) (t2 − tPB2: from the second polar body extrusion (tPB2) up to 2 cells (t2)) showed a significant difference whereas CC1a (t2 − tPNf: from fading of the pronuclei (tPNf) up to 2 cells (t2)) was at the threshold of significance.
CC1 in vitrified oocytes exhibited a comparatively slower progression in contrast to fresh oocytes. Conversely, CC1a in vitrified oocytes demonstrated faster progression compared with fresh oocytes. It is worth noting that these temporary deviations had minimal impact on the subsequent development. Despite the clinical outcomes showing a decrease in the vitrified group, none of them reached statistical significance. This lack of significance could be attributed to the limited sample size of the study.
To identify the transcriptomic changes of ectopic lesions and eutopic endometrial tissues during the progression of endometriosis, we performed transcriptomic analysis in the eutopic endometrium and ectopic lesions.
Laboratory study.
Academic medical center.
Four fertile and 4 subfertile Pgrcre/+Rosa26mTmG/+ mice with endometriosis, and 4 sham mice for each group of endometriosis mice as control. These mice underwent either surgery to induce endometriosis or sham surgery. Fertile sham and mice with endometriosis were used 1 month after surgery, whereas subfertile ones were used 3 months after surgery.
Early and chronic effects of endometriosis on transcriptomics of ectopic lesions and eutopic endometrium.
RNA-sequencing analysis and identification of differentially expressed genes and pathways in the ectopic lesions and eutopic uteri from mice with endometriosis and sham mice at day 3.5 of pregnancy.
Our mouse model recapitulates the transcriptomic changes of ectopic lesions in humans. RNA-sequencing analysis was performed in ectopic lesions and eutopic uteri from mice with or without endometriosis during the progression of the disease. Estrogen activity, inflammation, angiogenesis, and fibrosis pathways were consistently elevated in all the ectopic lesions compared with eutopic endometrium. Cholesterol/glucose synthesis and stem cell pluripotency pathways were more enhanced in ectopic lesions from subfertile mice compared with their eutopic endometrium. Dysregulation of infiltration of macrophage, dendritic, T and B cells was validated with the use of immunohistochemistry in ectopic lesions. Multiple ligand–receptor pairs between the ectopic and eutopic endometrium were altered compared with the sham endometrium. Suppressed WNT and EGF pathways were only found in the eutopic endometrium from subfertile not fertile mice compared with sham.
Our mouse endometriosis model recapitulates the transcriptomics of ectopic lesions in humans. Our transcriptomic analysis during endometriosis progression in our mouse model will help us understand the pathophysiology of endometriosis.
To evaluate ovarian tissue and follicle integrity before and after slow freezing or vitrification and postthawing in vitro culture.
A laboratory study using bovine ovarian cortical tissue.
Academic laboratory.
Ovaries from healthy cattle.
Bovine ovarian cortical tissue was subjected to either slow freezing or vitrification and subsequent in vitro culture. Tissue and follicle integrity were assessed before and after cryopreservation and culture.
Hematoxylin and eosin staining was used to assess follicle stages, morphology, and stromal cell density. Terminal deoxynucleotidyl transferase dUTP nick end labeling staining was used to examine apoptosis, and Masson’s trichrome staining was used to evaluate collagen content in the stromal environment. Immunofluorescent labeling was used to localize and quantify connexin 37 (CX37) and Ki67 expression.
Regardless of previous cryopreservation, ovarian tissue culture resulted in a decreased percentage of primordial follicles and an increased percentage of primary follicles compared with fresh tissue, indicating that follicle activation was not negatively affected by cryopreservation. However, both culture and cryopreservation followed by culture decreased the percentage of normal preantral follicles compared with fresh tissue that had not been cultured. Culture and/or cryopreservation did not impact stromal cell number, but there was increased cell apoptosis in tissue that was cultured after vitrification compared with tissue that was not cultured. Tissue culture, regardless of cryopreservation, resulted in decreased collagen deposition. There were fewer follicles expressing CX37 in vitrified and thawed tissue compared with all other treatments. Cryopreservation and/or culture of ovarian tissue did not change the percentage of follicles that contained Ki67-positive granulosa cells or the percentage of Ki67-positive granulosa cells within those follicles.
Based on these data, we conclude that tissue cryopreservation followed by culture does not affect follicle activation and growth, but it decreases the proportion of viable follicles within the tissue. Slow freezing was superior to vitrification as indicated by a higher proportion of follicles with normal morphology, lower stromal cell apoptosis, and maintenance of CX37 expression postthawing and after culture.
To explore the taxonomic and predicted functional relationship between the urine microbiome and alterations of semen analysis (SA) parameters.
Cross-sectional study.
Academic medical center.
Men presenting for fertility evaluation or men presenting for vasectomy consultation with proven biological paternity were recruited and stratified on the basis of alterations, or lack thereof, in SA parameters.
Changes in the functional and taxonomic urine microbiome profiles of participants with or without alterations in SA parameters.
Seventy-three participants were included in our study. Men with abnormal sperm motility (N = 27) showed a nearly 50-fold higher abundance of Dialister micraerophilus compared with those with normal sperm motility (N = 46). This relationship persisted on canonical correlational analysis (r = 0.439). Men with abnormal sperm concentration (N = 20) showed a lower abundance of Enterococcus faecalis and Staphylococcus aureus, compared with those with normal sperm concentration (N = 53). The urine of participants with impaired sperm motility demonstrated dramatic differences in predictive functional profiles in pathways involved in oxidation–reduction balance and cell longevity.
Our findings underscore differences in the urinary microbiome and abnormalities in semen parameters, especially sperm motility. By incorporating predictive functional profiling, we also highlight possible mechanisms that may drive the observed differences in sperm parameters.
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