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The relationship between premature ovarian insufficiency (FXPOI) and premutation in the FMR1 gene is well established. In recent years, though, a potential relationship between the latter and a low ovarian reserve has been suggested. To explore it, we conducted a retrospective study in an IVF program at a university tertiary referral center in Barcelona (Spain). Data were obtained retrospectively from a total of 385 women referred for FMR1 gene testing at our institution from January 2018 to December 2021. We compared the prevalence of FMR1 gene premutation between 93 of them, younger than 35 years, with a diminished ovarian reserve (DOR), characterized by levels of anti-Mullerian hormone < 1.1 ng/mL and antral follicle count < 5; and 132 egg donors screened by protocol that served as the controls. We found a higher prevalence of FMR1 premutation in the DOR group (seven patients (7.69%)) than in the control group (one patient (1.32%)), Fisher-exact test p-value = 0.012). We concluded that compared with the general population represented by young egg donors, the prevalence of FMR1 gene premutation is higher in young patients with a diminished ovarian reserve. Although these findings warrant further prospective validation in a larger cohort of patients within DOR, they suggest that, in clinical practice, FMR1 premutation should be determined in infertile young patients with DOR in order to give them adequate genetic counselling. [ABSTRACT FROM AUTHOR]

Evaluate antral follicle count measured after pituitary suppression (AFCaps) with a GnRH agonist as predictor of ovarian response and cumulative live birth (CLB). This study is a large cohort analysis of retrospective data between January 2011 and September 2020 in a tertiary-care university hospital. All first initiated IVF/ICSI cycles in women under 43 years of age for whom AFCaps was registered in our database were included. To evaluate CLB rates (CLBRs), only finalized cycles were analyzed (at least one live birth and/or all embryos transferred), excluding PGT cycles and severe male factor requiring testicular sperm extraction. AFCaps showed a good predictive ability in predicting ovarian response to ovarian stimulation. Predicting poor response, AFCaps presented an area under the receiver-operating characteristic curve (AUCROC) of 0.85 (95% CI 0.83–0.87), for high response prediction, the AUCROC was 0.80 (95% confidence interval [CI] 0.77–0.83). Although AFCaps was statistically higher in patients who achieved at least one live birth (13.6 ± 6.05 vs. 9.79 ± 6.33) and CLBRs per started cycle significantly increase between AFCaps quartiles (15.9%, 36.2%, 45.1% and 52.9%) its ability to predict CLBR was modest, with an AUCROC of 0.67 (95% CI 0.65–0.69). Women undergoing their first IVF/ICSI cycle following a long agonist GnRH protocol can be counseled with AFCaps measurement about their probability of achieving poor/high response. Based on this marker physicians can personalize ovarian stimulation with the aim of optimizing ovarian response and minimizing its risks. However, AFCaps has failed to predict CLB per started IVF cycle as an isolated marker. [ABSTRACT FROM AUTHOR]

Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that can help predict the occurrence of FXPOI. Long non-coding RNAs (lncRNAs) comprise a group of regulatory transcripts which have versatile molecular functions, making them important regulators in all aspects of gene expression. In recent medical studies, lncRNAs have been described as potential diagnostic biomarkers in many diseases. The present study was designed to determine the expression profile of three lncRNAs derived from the FMR1 locus, FMR4, FMR5 and FMR6, in female FMR1 premutation carriers in order: (i) to determine a possible role in the pathogenesis of FXPOI and (ii) to investigate whether they could serve as a biomarker for the diagnosis of FXPOI. FMR4, FMR5 and FMR6 transcripts levels were evaluated in total RNA extracted from peripheral blood by digital droplet PCR and compared between FMR1 premutation carriers with FXPOI and without FXPOI. The diagnostic value of lncRNAs was evaluated by receiver operating characteristic (ROC) analysis. Results revealed a significant association between FXPOI and high expression levels of FMR4. No association was obtained for FMR5 or FMR6. ROC curve analysis revealed that FMR4 can distinguish FMR1 premutation carrier with FXPOI with a diagnostic power of 0.67. These findings suggest a potential role of FMR4 as a possible biomarker for FXPOI. [ABSTRACT FROM AUTHOR]

Congenital posterior urethral-perineal fistula is an abnormal communication extending from the posterior urethra to the perineal skin. We present the case of an 11-year-old boy who had recurrent febrile urinary tract infections and abnormal dribbling of urine from the perineum. Fistulogram showed a paraescrotal fistula tract, which was then surgically excised. During the 10 months of follow-up, the patient remained asymptomatic without recurrence of urinary pathology. [ABSTRACT FROM AUTHOR]

Cryopreservation of ovarian tissue in advance of cytotoxic therapies and later transplantation of the tissue is being performed increasingly often, and the total success rates in terms of pregnancy and delivery have been described in case series. Most pregnancies were achieved after orthotopic transplantation of tissue (in the peritoneum or the remaining ovary); however, treatment of the transplantation site during surgery is controversial. In this observational case-series study, we include four patients who underwent ovarian tissue transplantation between 2012 and 2016 by laparoscopy. Previously ovarian tissue was cryopreserved with slow freezing protocol prior to chemo- and/or radiotherapy. After cancer remission, the cryopreserved ovarian tissues were orthotopically re-transplanted in the ovarian medulla by laparoscopy, using N-hexyl-2-cyanoacrylate as an absorbable adhesion barrier. All patients regained ovarian function between 8 and 24 weeks after transplantation, as shown by follicle development and estrogen production. In patients 1 and 2 the ovarian function ended one year after transplantation. Patient 3 has regular menstrual cycles 2 years after the transplant and patient 4 currently has an ongoing spontaneous pregnancy. The use of N-hexyl-2 cyanoacrylate can facilitate the placement of ovarian pieces in orthotopic transplantation by laparoscopy without affecting the restoration and duration of ovarian activity. [ABSTRACT FROM AUTHOR]

Several strategies have been proposed to control parasitic plants and these include biological control, the use of herbicides, and suicidal germination or trap crops. In the case of sunflower, the most effective solution is genetic resistance. Nevertheless, the use of resistant cultivars is followed by the appearance of new and more virulent races of the parasite that overcome the existing sources of resistance. For this reason, it is necessary to increase our knowledge of the mechanisms involved in the resistant varieties. In this study, the presence of compounds involved in pre-attachment resistance mechanisms in sunflower varieties was analyzed. The production of stimulators of the germination of parasitic plant seeds and the concentration of the haustorial elongation inhibitor, scopoletin, were measured in exudates of resistant and susceptible sunflower varieties. It was found that dehydrocostuslactone and orobanchyl acetate are not involved in the resistance of the sunflower varieties studied. The results demonstrate that costunolide, heliolactone, and scopoletin are related to sunflower resistance. The sunflower varieties studied do not use all available options to fight parasitic plants. This could be one of the reasons that sunflower resistance is rapidly overcome by broomrape. [ABSTRACT FROM AUTHOR]

Abstract: Objective: The purpose of this study was to identify women''s socio-demographic and climacteric factors, as well as other variables related to health care, associated with the prescription of the treatment during menopause and to investigate the prevalence of certain conditioning factors in early discontinuation in women aged 40–65 years in a population of post-menopausal women in Spain. Study design: Cross-sectional survey. Setting: Four of the most inhabited cities in Spain (Madrid, Barcelona, Seville and Valencia). Population: A total of 270 symptomatic post-menopausal women. Methods: A personal interview with a semi-structured questionnaire specifically designed to collect information on treatments for climacteric-related complaints. Main outcome measures: The reasons for HRT, the evaluation of alternative therapies, the reasons for choosing one therapy or another and reasons for discontinuation. Results: Of all the subjects included, 180 were still taking any type of treatment and 90 were former HRT users or had never used HRT. Among the latter, 43% of women expressed fear of the side effects and 38% gave the risk of breast cancer as the main reason for not using HRT. Of them, 58% receive phytoestrogens. Media and negative data from medical journals influenced this attitude in 67% of the women. On the other hand, only 9.4% of HRT users were reluctant to receive the therapy and the main reasons for maintaining HRT were its efficacy against climacteric symptoms, medical prescription and life quality. Conclusions: Side effects and fear of cancer were the most common reasons for not using HRT; and medical prescription, symptomatic improvement and quality of life were the main reasons for using it. Negative data from journals have an important effect on women''s attitudes to HRT. [Copyright &y& Elsevier]