Background: Gynecologic conditions including uterine fibroids, adenomyosis and endometriosis lead to significant impairment in women’s’ lives and significant expenditures of health care dollars. However, many women have symptoms long before a diagnosis is made. One of the goals of the Mayo Clinic Center for Uterine Fibroids and the Mayo Clinic Center for Study of Adenomyosis is to pioneer new diagnostic modalities to facilitate early diagnosis and individualized treatment. Our most advanced project is the use of magnetic resonance elastography (MRE) in characterizing uterine disease.Materials and Methods: MRE scans were performed on a 1.5 T whole-body imager with participants in the supine position and passive driver placed on their abdomen above the uterus. Continuous acoustic vibrations at 60 Hz were transmitted from an active driver to the passive driver through a flexible vinyl tube transmitting shear waves into the uterus. A modified 2-D gradient recalled echo (GRE) based elastography pulse sequence was used to collect wave images. The resulting 3 motion-sensitizing-gradient directional wave images were processed into a quantitative elastogram with units of kilopascal (kPa) using a previously described 2-D local frequency estimation (LFE) MRE inversion algorithm.Results: MRE is feasible to perform in a wide range of uterine sizes and subjects’ body mass index. There is considerable heterogeneity in uterine elasticity (2.08- 7.08 kPa) even among women with benign uterine disease.Conclusion: MRE is a promising technology for elucidating information about the heterogeneity of uterine disease. With further study, this technique may help characterize the ontogeny of uterine disease and provide noninvasive elucidation of genotype/phenotype interactions.

Background: Uterine leiomyomas (fibroids) are now known to be highly variable in their clinical behavior and biologic basis. However, the approach to leiomyomas and their effect on fertility, miscarriage and pregnancy complications has been based on location alone.Materials and Methods: This talk with bring together published information on the effect of leiomyomas on Reproductive performance and newer literature on growth, regression and genetics of uterine fibroids. In addition, we will discuss the effects of treatments for fibroids on Reproductive performance.Results: Location within the uterus remains the most predictive clinical factor in determining the impact of uterine fibroids on fertility. Submucosal fibroids have the greatest fertility impairment. Moreover, removal of submucosal fibroids is associated with an improvement in fertility potential. In contrast, intramural fibroids also have a measurable inhibitory effect on fertility potential, but show no attenuation of that impairment with conventional surgical removal. However, it is not clear whether it is biologic differences in the two or the adverse effects of surgical myomectomy which makes a difference.Conclusion: Further work is necessary to understand genotype/phenotype relationships in uterine fibroids. Less invasive treatment options may also benefit women with leiomyomas who desire pregnancy.

Adverse drug reactions (ADRs) are a major problem in drug therapy and drug development. Inter-individual genetic differences can have significant roles in determining an individual's susceptibility to ADRs. The rapid development of techniques in the area of genome analysis has put the scientific community in a power position and facilitated identification of new pharmacogenomic biomarkers that can provide predictive tools for improved drug response and fewer ADRs. Such biomarkers mainly originate from genes encoding drug-metabolizing enzymes, drug transporters, drug targets and human leukocyte antigens.Understanding pharmacogenetic (PG) differences in drug response and tolerability has been an important area of research in personalized medicine, but the clinical utility of PGs testing has not been established very well. Identification of genetic polymorphisms due to single nucleotide polymorphisms is the most common approach. PG studies are committed to selecting the best therapy for every patient with a minimum risk of complications. Furthermore, these studies allow the development of clinical tests based on the presence of profiles of biomolecules and other biological markers useful for routine diagnosis.Since genetic variations play an important role in Reproductive medicine, pharmacogenetics studies open a new field to modify and develop the treatments of infertile couples. For instance, the application of PG to assisted Reproductive techniques (ART) will help clinicians to improve the efficacy of hormone treatments that are being routinely applied during ART protocols. As an example, FSH- and estrogen-receptors are genetic markers involving controlled ovarian hyperstimulation as clinical studies have demonstrated that the p.N680S polymorphism of the FSH-receptor gene determines the less ovarian response to FSH stimulation in patients undergoing IVF. Consequently, pharmacogenetics can assist physicians with prescribing medicine to achieve the controlled ovarian stimulation.