Exploring the Link between Premature Ovarian Insufficiency, Insomnia and Circadian Pathways.

Objective: To establish an interaction network for genes related to premature ovarian insufficiency (POI) and insomnia, and to identify biological processes that connect POI to the physiological clock.

Methods: Previously reported lists of genes associated to POI and insomnia were contrasted and their intersection was used as input on protein-protein interaction analyses. POI-associated genes were contrasted with gene expression markers for neural circadian control and enriched pathways among their shared content were dissected.

Kinesin binding as a shared pathway underlying the genetic basis of male factor infertility and insomnia.

Objective: To study whether male factor infertility and insomnia share genetic risk variants and identify any molecular, cellular, and biologic interactions between these traits.

Design: 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.

Exploring the molecular pathways linking sleep phenotypes and -associated neurodevelopmental disorder.

Pogo transposable element-derived protein with ZNF domain () gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinical manifestations frequently include developmental delay, autism spectrum disorder and obesity. Sleep disturbances are also commonly observed in these patients, yet the biological pathways which link sleep traits to the -associated syndrome remain unclear.

Lipid metabolism and neuromuscular junction as common pathways underlying the genetic basis of erectile dysfunction and obstructive sleep apnea.

Erectile dysfunction (ED) incidence is higher in patients with obstructive sleep apnea (OSA). Studies have suggested that ED and OSA may activate similar pathways; however, few have investigated the links between their underlying genotypic profiles. Therefore, we conducted an in-silico analysis to test whether ED and OSA share genetic variants of risk and to identify any molecular, cellular and biological interactions between them.

Genetic factors underlying insomnia and ovarian insufficiency.

Premature ovarian insufficiency (POI) is characterized by a loss of regular hormone production and egg release in women below the age of 40 years, which often leads to infertility, vaginal dryness and dysfunctional sleep. Acknowledging the common co-occurrence of insomnia and POI, we tested the overlap between POI and insomnia-associated genes, which were implicated in previous large-scale populational genetics efforts. Among the 27 overlapping genes, three pathways were found as enriched: DNA replication, homologous recombination and Fanconi anemia.

Effect of chronic sleep deprivation on acrosomal integrity and functional parameters of murine sperm.

Objective: To evaluate the effect of chronic sleep deprivation on sperm function quality in mice.

Design: Experimental study.

Setting: Not applicable.

Carnosine treatment during human semen processing by discontinuous density gradient.

The aim of this article was to evaluate the effects of different concentrations of carnosine added during human semen processing. Semen samples from 34 patients were submitted to processing by discontinuous density gradient centrifugation without (control) or with different concentrations of carnosine supplementation as follows: (a) 20 mM of carnosine supplementation on the layers of Percoll; and (b) 50 mM carnosine supplementation. Sperm samples were then washed with human tubal fluid medium and evaluated according to sperm kinetics and functional assessment.

Effect of in vitro vitamin E (alpha-tocopherol) supplementation in human spermatozoon submitted to oxidative stress.

The aim of this study was to evaluate the antioxidant effect of in vitro supplementation with vitamin E in human spermatozoon incubated with an oxidative stress inducer. In this study, semen samples from 30 patients were collected and with one aliquot we performed semen analysis according to WHO. The remaining volume was divided into four aliquots: group C: incubated with BWW medium; group I: incubated with 5 mmol 1-1 hydrogen peroxide; group A: incubated with 40 μmol 1-1 vitamin E; and group AI: incubated with both them.