What is this vaginal bulge? An atypical case of vaginal paraurethral leiomyoma. A case report and literature systematic review.

AIM: Vaginal paraurethral leiomyomas are uncommon benign tumors of the female genitourinary tract. We report a case of anterior vaginal paraurethral leiomyoma. Furthermore, we performed a systematic review of the literature to provide information that can help the physicians in the diagnosis and management of women with this rare pathology. METHODS: A case of anterior vaginal paraurethral leiomyoma in 53-year-old, primiparous, caucasian woman with history of pelvic pressure, vaginal bulging and overactive bladder symptoms, was described. Furthermore, a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement was performed between January 1, 2000 to Dec 30, 2019. Only articles that reported cases of vaginal or paraurethral leiomyoma (b) case series and case reports with literature review were included. RESULTS: we screened a total 2281 records; 70 articles published from 2000 to 2019 were included. CONCLUSION: Vaginal paraurethral leiomyoma is a rare benign tumor of the vagina with a wide spectrum of symptoms and good prognosis. The recurrence and transformation into malignant condition are rare. Histopathological examination is the gold standard for diagnosis, but MRI and US can be help to define the size and localization of the tumor. Management requires surgical vaginal excision in the majority of cases; however, abdominal approach could be considered when it is large and located high in the vagina.

Environmental toxin exposure in polycystic ovary syndrome women and possible ovarian neoplastic repercussion.

Purpose: Over the last two decades, increasing attention has been paid to environmental toxins and their effects on the female reproductive system. Endocrine disrupting chemicals (EDCs) are exogenous substances or mixtures that can mimic the action of steroid hormones and interfere with their metabolism. Advanced glycation end products (AGEs) are proinflammatory molecules that can interact with cell surface receptors and mediate the triggering of proinflammatory pathways and oxidative stress. The purpose of this review is to explore the effects of environmental toxin exposure in the pathogenesis of both polycystic ovary syndrome (PCOS) and OC (ovarian cancer), considered separately, and also to evaluate possible neoplastic ovarian repercussion after exposure in patients diagnosed with PCOS.Materials and methods: We searched PubMed for articles published in the English language with the use of the following MeSH search terms: "polycystic ovary syndrome" and "ovarian cancer" combined with "endocrine disruptors". Titles and abstracts were examined and full articles that met the selection criteria were retrieved. A manual search of review articles and cross-references completed the search.Results: Extensive data from different studies collected in recent years concerning the effects of EDC/AGE exposure have confirmed their role in the pathophysiology of both PCOS and OC. They favor PCOS/OC development through different mechanisms that finally lead to hormonal and metabolic disruption and epigenetic modifications.Conclusions: Environmental toxin exposure in PCOS women could favor neoplastic transformation by exacerbating and potentiating some PCOS features. Further research, although difficult, is needed in order to prevent further diffusion of these substances in the environment, or at least to provide adequate information to the population considered at risk.

Molecular biomarkers predicting early development of endometrial carcinoma: A pilot study.

OBJECTIVE: Endometrial carcinoma represents the most common gynaecological cancer and the sixth most frequent cancer among women worldwide. The 5-year survival of patients with stage I endometrial carcinoma is 75%-88% versus 50% for stage III or 15% for stage IV disease. Therefore, early detection could improve survival rates. Specifically, in the most prevalent, type 1 endometrial cancer develops from hyperplastic endometrium. The aim of the study was to evaluate the utility of cancer gene mutations from endometrial biopsies towards predicting synchronous or metachronous development of malignant lesions. The aim of the study was to evaluate whether endometrial biopsies could already carry mutations in cancer genes useful for predicting or anticipating subsequent cancer development. METHODS: Patients with a previous endometrial biopsy negative for cancer, followed by a subsequent biopsy positive for cancer, were included in the study. A fifty cancer genes targeted next-generation sequencing panel were used to investigate mutations in matched non-cancerous and malignant samples. RESULTS: All biopsies from cancer tissues harboured mutations in one or more of the following genes: APC, CTNNB1, FBXW7, HNF1A, KRAS, MTOR, NRAS, PIK3CA, PTEN, RB1 and TP53. Additionally, 50% of the biopsies from matched non-cancerous tissues exhibited mutations in PTEN, KRAS or PIK3CA genes. CONCLUSIONS: These results suggest that detecting pathogenic mutations in oncogenes or tumour suppressor genes in an otherwise benign condition is associated with a risk of developing a malignant disease. Given the identification of mutations several months or years before the appearance of a malignancy, our finding suggests that a closer monitoring of patients who present such molecular alterations in non-cancerous uterine mass is warranted.

A Pilot Study on Oocyte Retrieval Simulator: A New Tool for Training?

This prospective study was aimed at assessing the usefulness of a box simulator in oocyte pick-up and at establishing whether it could be an appropriate training tool for egg retrieval. Forty-four clinicians, divided in two groups on the grounds of the previous experience (Novices and Experts), participated to two training sessions with a pick-up simulator. Data concerning the mean number of follicles correctly aspired (%OK med), the average time needed to correctly aspirate one follicle (t foll med) and the ratio between the two afore-mentioned parameters (%OK med/t foll med) were collected. At the end of the two sessions all participants completed a questionnaire aimed at assessing the performance of the simulator in terms of realism and acceptability for use. A significant improvement in efficiency (mean number of follicles correctly aspired, 82% versus 75%), speed (mean time needed to aspirate one follicle, 21 versus 28 s) and accuracy (mean percentage of follicles correctly aspirated in one minute, 2.53% versus 1.86%) was noted in the total sample. The performance accuracy was significantly increased in both groups (2.34% versus 1.83% for Novices and 2.50% versus 2.06%, for Experts). Speed was significantly improved in the Novices' group. Simulator-based training has been shown to be effective and useful and it should be considered in training programs.

Pelvic floor muscle training for prevention and treatment of urinary incontinence during pregnancy and after childbirth and its effect on urinary system and supportive structures assessed by objective measurement techniques.

PURPOSE: During the second and the third trimesters of pregnancy and in the first 3 months following childbirth, about one-third of women experience urinary incontinence (UI). During pregnancy and after delivery, the strength of the pelvic floor muscles may decrease following hormonal and anatomical changes, facilitating musculoskeletal alterations that could lead to UI. Pelvic floor muscle training (PFMT) consists in the repetition of one or more sets of voluntary contractions of the pelvic muscles. By building muscles volume, PFMT elevates the pelvic floor and the pelvic organs, closes the levator hiatus, reduces pubovisceral length and elevates the resting position of the bladder. Objective of this review is to evaluate the efficacy of PFMT for prevention and treatment of UI during pregnancy and after childbirth and its effect on urinary system and supportive structures assessed by objective measurement techniques. METHODS: The largest medical information databases (Medline-Pubmed, EMBASE, Lilacs, Cochrane Library and Physiotherapy Evidence Database) were searched using the medical subject heading terms "pelvic floor muscle training", "prevention", "urinary incontinence", "urinary stress incontinence", "objective measurement techniques", "pregnancy, "exercise", "postpartum" and "childbirth" in different combinations. RESULTS AND CONCLUSIONS: Overall, the quality of the studies was low. At the present time, there is insufficient evidence to state that PFMT is effective in preventing and treating UI during pregnancy and in the postpartum. However, based on the evidence provided by studies with large sample size, well-defined training protocols, high adherence rates and close follow-up, a PFMT program following general strength-training principles can be recommended both during pregnancy and in the postnatal period.

Radiations and female fertility.

Hundreds of thousands of young women are diagnosed with cancer each year, and due to recent advances in screening programs, diagnostic methods and treatment options, survival rates have significantly improved. Radiation therapy plays an important role in cancer treatment and in some cases it constitutes the first therapy proposed to the patient. However, ionizing radiations have a gonadotoxic action with long-term effects that include ovarian insufficiency, pubertal arrest and subsequent infertility. Cranial irradiation may lead to disruption of the hypothalamic-pituitary-gonadal axis, with consequent dysregulation of the normal hormonal secretion. The uterus might be damaged by radiotherapy, as well. In fact, exposure to radiation during childhood leads to altered uterine vascularization, decreased uterine volume and elasticity, myometrial fibrosis and necrosis, endometrial atrophy and insufficiency. As radiations have a relevant impact on reproductive potential, fertility preservation procedures should be carried out before and/or during anticancer treatments. Fertility preservation strategies have been employed for some years now and have recently been diversified thanks to advances in reproductive biology. Aim of this paper is to give an overview of the various effects of radiotherapy on female reproductive function and to describe the current fertility preservation options.

Treatment options and reproductive outcome for adenomyosis-associated infertility.

PURPOSE: Adenomyosis is a benign gynecological disease mostly diagnosed in the forth and fifth decades. The recent improvement of the diagnostic tools and a better understanding of the pathology allowed clinicians to postulate a possible relationship between adenomyosis and infertility and to diagnose it in younger asymptomatic women during infertility work-up. Purpose of this article is to review the different theories regarding the possible correlation between adenomyosis and infertility and to discuss the treatment options and the final reproductive outcome after the treatment. MATERIALS AND METHODS: We search Pubmed for articles published in the English language with the use of the following MeSH search terms: "adenomyosis" combined with "treatment" and "fertility outcome" with the restriction to the human species. A manual search of review articles and cross-references completed the search. All selected articles were assessed for study design, patients characteristic, diagnosis of adenomyosis, type of treatment, post-treatment rates of conception, full-term pregnancy and completeness of information of the data sets. RESULTS: Limited data are available concerning the efficacy of the different treatment options of adenomyosis on fertility outcome and the only ones published are retrospective evaluations or small case series. CONCLUSIONS: Adenomyosis represents a common gynecological disorder with a negative impact on fertility. However, it remains challenging to establish if adenomyosis is the only cause of the infertility or not, because patients, in both case and control groups, may be affected by concomitant endometriosis. Further studies are required to determine the reason of implantation failure in women with adenomyosis and the impact of adenomyosis on infertile women with or without endometriosis.

The influence of socio-demographic factors on miscarriage incidence among Italian and immigrant women: a critical analysis from Italy.

Miscarriage is one of the most relevant adverse events in women's reproductive life. The purpose of the study was to describe miscarriage trend in Italy during the last years among Italian and immigrant women, to compare miscarriage rates of the two groups and to evaluate the effect of age, nationality and educational level on the incidence of having a miscarriage. Then, a brief critical review of other miscarriage risk factors was performed. This study is based on ISTAT database. All data were analyzed through the statistical software SPSS and the following analytical techniques were used: multivariate logistic regression, factorial analysis of variance and Chi square test. Immigrant miscarriage rates resulted higher than Italian ones and they decreased from 2003 to 2009 unlike Italian ones, which remained unchanged. The effect of maternal age on the miscarriage incidence resulted different, depending on the nationality; for Italian women it increased with increasing of age and for immigrant women the opposite trend was found. Moreover, miscarriage incidence resulted significantly different depending on the maternal educational level. Whereas immigrant women considered did not belong to the same ethnic group, biological or genetic factors underlying these differences were excluded and a socioeconomic explanation was provided. Finally, in order to provide more complete information, other miscarriage risk factors were discussed through a brief review of the literature.

Preserving fertility in female cancer patients: a snapshot of the options.

With the odds of surviving cancer improving, many young women facing chemotherapy or radiotherapy may first wish to take steps to ensure that they will still be able to bear children afterward. The options depend on the type of disease, the treatment required, the age of the patient, whether she has a long-term partner, and whether cancer treatment can be delayed. This paper is an overview of current and experimental strategies for preserving fertility in female cancer patients.

Correlation of endocrine disrupting chemicals serum levels and white blood cells gene expression of nuclear receptors in a population of infertile women.

Significant evidence supports that many endocrine disrupting chemicals could affect female reproductive health. Aim of this study was to compare the internal exposure to bisphenol A (BPA), perfluorooctane sulphonate (PFOS), perfluorooctanoic acid (PFOA), monoethylhexyl phthalate (MEHP), and di(2-ethylhexyl) phthalate (DEHP) in serum samples of 111 infertile women and 44 fertile women. Levels of gene expression of nuclear receptors (ER α , ER ß , AR, AhR, PXR, and PPAR γ ) were also analyzed as biomarkers of effective dose. The percentage of women with BPA concentrations above the limit of detection was significantly higher in infertile women than in controls. No statistically significant difference was found with regard to PFOS, PFOA, MEHP and DEHP. Infertile patients showed gene expression levels of ER α , ER ß , AR, and PXR significantly higher than controls. In infertile women, a positive association was found between BPA and MEHP levels and ER α , ER ß , AR, AhR, and PXR expression. PFOS concentration positively correlated with AR and PXR expression. PFOA levels negatively correlated with AhR expression. No correlation was found between DEHP levels and all evaluated nuclear receptors. This study underlines the need to provide special attention to substances that are still widely present in the environment and to integrate exposure measurements with relevant indicators of biological effects.

Clinical outcome after IMSI procedure in an unselected infertile population: a pilot study.

BACKGROUND: To date the IMSI procedure represents the only real-time and unstained method available to discard spermatozoa with ultrastructural defects. Several studies demonstrated that IMSI provides positive results in couples with severe male factor infertility or repeated ICSI failures. Aim of this pilot study is to evaluate the differences between IMSI and ICSI in terms of IVF outcomes in an unselected infertile patient population. METHODS: Three hundred and thirty-two couples were analyzed: 281 couples underwent conventional ICSI procedure and 51 underwent IMSI technique. RESULTS: No statistically significant differences were found between implantation rate (ICSI: 16,83%; IMSI: 16,67%), fertilization rate (ICSI: 77,27%; IMSI: 80,00%) and pregnancy rate (ICSI: 25,30%; IMSI: 23,50%). Both groups were comparable when considering live birth rate (ICSI: 11,39%; IMSI:13,72%), ongoing pregnancy rate (ICSI: 7,47%; IMSI: 5,88%) and miscarriage rate (ICSI: 17,78; IMSI: 5,26%). The subgroup analyses did not show a statistical difference between ICSI and IMSI neither in male factor infertility subgroup nor in patients with more than one previous ICSI attempt. A trend towards better laboratory and clinical outcomes was detected in the male factor infertility subgroup when IMSI was applied. CONCLUSIONS: Our preliminary results show that the IMSI technique does not significantly improve IVF outcomes in an unselected infertile population.

The adjuvant use of N-palmitoylethanolamine and transpolydatin in the treatment of endometriotic pain.

OBJECTIVE: To test the adjuvant use of the combination of N-palmitoylethanolamine and transpolydatin in the medical treatment of endometriotic pain. STUDY DESIGN: We enrolled 47 patients admitted to the Outpatient Endometriosis Care Unit of Ferrara University from January 2011 to December 2011. They were divided into two groups according to the endometriosis site (group A: recto-vaginal septum; group B: ovary). One tablet, containing 400 mg of micronized N-palmitoylethanolamine plus 40 mg transpolydatin, was administered twice daily on a full stomach for 90 days. Each patient was requested to grade the severity of dysmenorrhea, chronic pelvic pain, dyspareunia and dyschezia using a 0-10 cm visual analogic scale prior to beginning treatment (T0), after 30 days (T1), 60 days (T2) and 90 days (T3). The continuous and categorical variables were compared, respectively, using Student's t-test and the chi-square test. Analysis of variance for repeated measures was used to verify the reduction of endometriotic pain. RESULTS: The intensity of endometriotic pain decreased significantly for both groups (p<0.0001). The efficacy of drug treatment was significant after 30 days. Pain intensity decreased equally in the two groups except for dysmenorrhea, which was reduced more rapidly in group B. CONCLUSIONS: The combination of N-palmitoylethanolamine and transpolydatin reduced pain related to endometriosis irrespective of lesion site. It had a marked effect on chronic pelvic pain determined by deep endometriosis and on dysmenorrhea correlated to ovarian endometriosis.

Rectus abdominis muscle endometriotic mass in a woman affected by multiple sclerosis.

We report a case of a rectus abdominis muscle endometriotic mass in a woman affected by multiple sclerosis. The pathogenesis of endometriosis is poorly understood but an immune system alteration could play a role in its onset and development. To date few studies have investigated the connection between autoimmune diseases and endometriosis. Multiple sclerosis is an inflammatory, autoimmune, demyelinating disease of the central nervous system. An autoimmune background might contribute both in the establishment of extrapelvic endometriotic lesions and in the possible increased risk of women with endometriosis to develop autoimmune diseases.

Sonohysterosalpingography: a suitable choice in infertility workup.

PURPOSE: To evaluate the efficacy, compliance, and cost effectiveness of sonohysterosalpingography (HyCoSy) compared with hysteroscopy for uterine cavity evaluation and compared with RX-hysterosalpingography (RX-HSG) for tubal patency determination. METHODS: Three hundred and eight infertile patients underwent HyCoSy, hysteroscopy, and RX-HSG. We compared sensitivity, specificity, positive and negative predictive values (PPV and NPV), discomfort level, and cost of all three procedures. RESULTS: Sensitivity, specificity, PPV, and NPV were higher for HyCoSy than for hysteroscopy but the differences were not significant. HyCoSy also has the same accuracy as RX-HSG. Pain perception and cost were higher for RX-HSG and hysteroscopy than for HyCoSy. CONCLUSIONS: HyCoSy can be regarded as a procedure for initial evaluation of the uterine cavity and of tubal patency in infertile patients.

Procreative sex in infertile couples: the decay of pleasure?

BACKGROUND: Infertility represents a major challenge to the emotional balance and sexual life of couples, with long-lasting and gender-specific effects. The objective of this study is to explore personality features of infertile patients and detect possible sexual disorders in couples undergoing infertility treatment. MATERIALS AND METHODS: In this prospective study 60 infertile couples and 52 fertile control couples were asked to complete standardized and validated questionnaires: the Adjective Check List (ACL) to enquire about personality features and the Female Sexual Function Index (FSFI) or the International Index of Erectile Function (IIEF) to assess sexual functioning of female and male partners. The study population was divided into 3 groups: Group A (N = 30, recently diagnosed infertile couples) Group B (N = 30, infertile couples already undergoing Intrauterine Insemination) and Group C (N = 52, fertile control group). RESULTS: Infertile patients did not display any distinguishing personality features. Regarding sexual function, men of all the three groups scored higher in both questionnaires (sexual satisfaction, desire and orgasm) than their female partners. Comparing results between groups, Group A male partners obtained lower scores in all the subscales. Women belonging to Group A and Group B showed an impairment of sexual arousal, satisfaction, lubrification and orgasm when compared to fertile controls. CONCLUSIONS: Even if at the very first stages of infertility treatment no personality disturbances can be detected, the couples' sexual life is already impaired with different sexual disorders according to gender.

Impact of 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase on IVF outcome: is screening necessary for all infertile women?

AIM: Polymorphisms of genes connected to folate metabolism may alter the beneficial effect of folic acid on the methyl group cycle. The most common variation is the 677C>T polymorphism of the gene of the 5,10-methylentetrahydrofolate reductase (MTHFR). The aim of this study is to investigate of what influence, if any, does MTHFR 677C>T mutation have on female fertility and on the in vitro fertilization (IVF) outcome. PATIENTS AND METHODS: Data of 273 patients were retrospectively analyzed. The study group (group A) consisted of 103 women, homozygous for the MTHFR 677C>T mutant genotype. The control group (group B) consisted of 170 patients without the mutation. RESULTS: A longer stimulation duration was found in group A and the total amount of recombinant follicle-stimulating hormone (r-FSH) needed was appreciably higher. The fertilization rate was significantly higher in group B, although the implantation rate and clinical pregnancies were similar in both groups. CONCLUSIONS: Alteration of inherited thrombophilic factors is connected with early pregnancy loss and IVF implantation failure. Our study showed an abortion rate higher, but not statistically significant, in group A. Based on these findings, our study suggests that MTHFR 677C>T mutation does not affect the IVF outcome and patients without thrombophilic risk factors undergoing an IVF cycle should not all be screened for thrombophilic disorders.