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Objectives: To enhance evidence-based knowledge about sexual function and the prevalence of sexual dysfunction after surgical therapy for congenital anomalies with menstrual outflow obstruction., Materials and Methods: In this long-term case-control study, all patients underwent surgical correction of an obstructive Müllerian anomaly between 1980 and 2013. At the start of the case-control study, patients were at least 18 years old and were two years post their initial operation. The control group were women without current gynaecological problems. 38 patients (response rate 48.7%) and 54 controls were included. Chi-square test linear-by-linear Association, Fisher's Exact Test, Mann-Whitney U test and the unpaired sample t-test were used for statistical analysis., Main Outcome Measures: The following questionnaires were used: the Female Sexual Function Index (FSFI), the Body Exposure during Sexual Activities Questionnaire (BESAQ), and the Endometriosis Health Profile Questionnaire (EHP-30)., Results: The mean FSFI score in patients was 27.8 (SD5.4) versus 27.4 (SD6.8) in controls (p=0.858). A total FSFI score ≥26.55, indicating no sexual dysfunction was present in 70.6% of patients and 69.2% of controls (p=1.000). The mean BESAQ score in patients was 30.4 (18.5), compared to 38.3 (SD21.4) in controls (p=0.261), where lower scores denote better body image during intimate sessions. In the EHP-30, a statistically significant difference between patients and controls was found in all items on sexual intercourse. The subscale score of patients was 31.1 (SD26.2) versus 7.0 (SD11.1) in controls (p=<0.001), indicating better sexual functioning in controls., What Is New?: The study showed that a history of menstrual outflow obstruction had a negative influence on several domains of sexual function, yet the patients total scores on sexual function remained in the normal range. The FSFI score of patients' post-surgical treatment of obstructive congenital anomalies is similar to the control group.

Objective: To enhance evidence-based knowledge on long-term sequalae in patients with surgically corrected obstructing Müllerian anomalies., Methods: This long-term case-control study included patients with menstrual outflow obstruction due to congenital anomalies of the uterus or vagina, who were at least 18 years old, and for whom 2 years had elapsed since the first surgery at the start of this study. The control group consisted of women without current gynecological problems. Patients underwent a surgical correction at the Radboud University Medical Center Nijmegen between 1980 and 2013. Of 78 patients approached, 38 (49%) were included in this study. The control group consisted of 54 females. The main outcome measures were pain and health state. The following questionnaires were used: Visual Analogue Scale pain scores, European Quality of Life-5 Dimensions questionnaire (EQ-5D-3L) and the adapted Endometriosis Health Profile questionnaire (EHP-30)., Results: Patients had higher actual and maximum abdominal pain scores compared with controls (11 vs 0 [P = 0.007] and 48 vs 21 [P = 0.035], respectively). Based on the EQ-5D-3L scores, patients had more pain and discomfort (P = 0.005), more mood problems (P = 0.023), and a poorer subjective health state (P = 0.002) and self-rated health state (P = 0.031). Based on the EHP-30, patients had a significant poorer self-rated health state on four out of five subscales., Conclusion: In this study, following surgically corrected menstrual obstruction, patients had statistically significant higher abdominal pain scores and a poorer self-rated health state compared with controls., (© 2023 The Authors. International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.)

In the Netherlands but also in many other countries, there is an increasing social discussion about gender identity and gender diversity, and an increasing number of children and adolescents are seeking medical help because of questions about their gender identity. The cause of this increase is still unknown. Gender questions are diverse and require an individual approach by a multidisciplinary team. A number of adolescents have additional problems such as mood problems, autistiform symptoms and systemic problems. Diagnosis and treatment takes place in accordance with the quality standard for transgender care somatic and psychological. Hormonal treatment can help to reduce gender dysphoria and improve mental health.

Semen analysis is characterized by high levels of intra- and inter-laboratory variability, due to a low level of standardization, high subjectivity of the assessments, and problems with automated procedures. To improve consistency of laboratory results, quality control and training of technicians are important requisites. The goals of this study are to evaluate the results of an external quality control (EQC) program and standardized training by ESHRE Basic Semen Analysis Courses (BSAC) on the variability in manual assessments of semen parameters. We performed retrospective analyses of (1) the interlaboratory variability in the Dutch EQC program and (2) the interobserver variability in BSACs for concentration, motility, and morphology assessments. EQC data showed that the interlaboratory coefficient of variation (CV) for concentration assessment decreased (range from 24.0%-97.5% to 12.7%-20.9%) but not for morphology and motility assessments. Concentration variability was lower if improved Neubauer hemocytometers were used. Morphology assessment showed highest CVs (up to 375.0%), with many outliers in the period of 2007-2014. During BSAC, a significant reduction of interobserver variability could be established for all parameters (P < 0.05). The absence of an effect in the EQC program for motility and morphology might be explained by respectively the facts that motility assessment was introduced relatively late in the EQC program (since 2013) and that criteria for morphology assessment changed in time. BSAC results might have been influenced by the pretraining level of participants and the influence of external factors. Both EQC and training show positive effects on reducing variability. Increased willingness by laboratories to change their methods toward standards may lead to further improvements., Competing Interests: None

Due to advances in fertility preservation options and improvements in life expectancy, there is growing need for fertility preservation counseling for women at risk for premature ovarian insufficiency. The aim of this review is to provide an overview of various causes of female fertility loss and to raise awareness for counseling women about their options for fertility preservation. Furthermore, for counseling of women not only at the time of gonadotoxic treatment but also post-treatment and also of women with other benign causes of increased risk for impaired fertility or premature ovarian insufficiency., (© 2019 Nordic Federation of Societies of Obstetrics and Gynecology.)

Introduction and Hypothesis: Pelvic organ prolapse (POP) and other disorders, such as varicose veins and joint hypermobility, have been associated with changes in collagen strength and metabolism. We hypothesized that these various disorders were more prevalent in both POP patients and their family members., Methods: In this study, the prevalence of various collagen-associated disorders, including POP, was compared between POP patients (n = 110) and control patients (n = 100) and their first and second degree family members., Results: POP patients reported a higher prevalence of varicose veins, joint hypermobility and rectal prolapse and were more likely to have family members with POP as compared to the control group (p < 0.01). In contrast, the family members of the POP group did not report a higher prevalence of collagen-associated disorders compared to the family members of the control group (p = 0.82)., Conclusions: POP and other collagen-associated disorders may have a common aetiology, originating at the molecular level of the collagens.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and gait ataxia, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, peripheral neuropathy, and cognitive decline. The pathological hallmark of FXTAS is the presence of intranuclear inclusions in both neurons and astroglia. However, it is unknown to what extent such inclusions are present outside the central nervous system (CNS). To address this issue, we surveyed non-CNS organs in ten human cases with FXTAS and in a CGG repeat knock-in (CGG KI) mouse model known to possess neuronal and astroglial inclusions. We find inclusions in multiple tissues from FXTAS cases and CGG KI mice, including pancreas, thyroid, adrenal gland, gastrointestinal, pituitary gland, pineal gland, heart, and mitral valve, as well as throughout the associated autonomic ganglia. Inclusions were observed in the testes, epididymis, and kidney of FXTAS cases, but were not observed in mice. These observations demonstrate extensive involvement of the peripheral nervous system and systemic organs. The finding of intranuclear inclusions in non-CNS somatic organ systems, throughout the PNS, and in the enteric nervous system of both FXTAS cases as well as CGG KI mice suggests that these tissues may serve as potential sites to evaluate early intervention strategies or be used as diagnostic factors.

Background: Carriers of a premutation (CGG repeat length 55-200) in the fragile X mental retardation (FMR1) gene are at risk for primary ovarian insufficiency (FXPOI). The anti-Müllerian hormone (AMH) level acts as a useful marker of ovarian follicle reserve and, thus, may serve to predict when this ovarian reserve becomes too low to sustain ovarian function. We investigated the intra-individual variation of AMH levels over time for premutation carriers compared with non-carriers., Methods: We determined AMH levels in blood samples from 240 women ascertained through fragile X families, of which 127 were premutation carriers and 113 were non-carriers. Linear mixed models were used to assess the effect of age and premutation status on AMH levels and to determine a modeled AMH value. The stability over time of the deviation of observed AMH levels from modeled levels, referred to as standardized AMH values, was assessed through correlation coefficients of 41 longitudinal samples., Results: At all ages, premutation carriers exhibited lower AMH levels. For all women, AMH was found to decrease by 10% per year. The added effect of having a premutation decreased AMH levels by 54%. The deviation of an individual's AMH level from the modeled value showed a reasonable intra-individual correlation. The Pearson correlation coefficient of two samples taken at different ages was 0.36 (P = 0.05) for non-carriers and 0.69 (P = 0.01) for carriers., Conclusions: We developed a unique standardized AMH value, taking FMR1 premutation status and the subject's age into account, which appears to be stable over time and may serve as a predictor for FXPOI after further longitudinal assessment.

Purpose: Women who carry a fragile X mental retardation 1 premutation are at risk for fragile X-associated primary ovarian insufficiency and should be counseled for a potentially reduced fertility. Multiple factors can affect the age of onset and severity of fragile X-associated primary ovarian insufficiency. In this study, we assessed the predictive power of several factors with menopausal age, a surrogate measure of onset of fragile X-associated primary ovarian insufficiency., Methods: Genetic, environmental, and reproductive factors were analyzed by Cox proportional hazard models in 1068 women, 385 of fragile X families ascertained through the Nijmegen study and 683 of fragile X families or general population families ascertained through the Atlanta study., Results: The highest association with menopausal age among fragile X mental retardation 1 premutation carriers was found for risk index by CGG repeat size (hazard ratio, 1.43) and smoking (hazard ratio, 1.34). Women from the Nijmegen cohort showed an overall lower age at menopause onset, for which a correction was made. A prediction model based on these two parameters, mean menopausal age of first-degree relatives with the same mutation status and the correction for ascertainment site, estimated the probability of becoming postmenopausal for premutation carriers, with a margin of 7-10%., Conclusion: We conclude that this model serves as a first step toward clinical application of fragile X-associated primary ovarian insufficiency prediction.

Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragile X premutation carriers could be due to skewed XCI (XCI ratio >80:20). To determine inactivation ratios and activities of the premutations, inactivation patterns were assessed in peripheral blood samples from 101 fragile X premutation carriers (mean age 47.1 years, range 12-72) through analysis of the AR and FMR1 loci, respectively. In addition, AR inactivation patterns were assessed in peripheral blood samples from 25 women with idiopathic POF (mean age 31.7 years, range 19-48). We addressed the association between age and skewed XCI because older women are prone to XCI skewness. The median XCI ratios were 68% for premutation carriers with POF (N = 37), 67% for premutation carriers without POF (N = 64) and 61% for women with idiopathic POF (N = 25). The incidence of skewing was similar in all groups, that is, 7 of 37 (18.9%) in premutation carriers with POF, 11 of 64 (17.2%) in premutation carriers without POF, and 3 of 25 (12%) in women with idiopathic POF. There was good concordance between inactivation ratios at the two loci tested in 62 premutation carriers (intraclass correlation coefficient = 0.86; P < 0.01). No age-specific skewing was observed. Skewed XCI and activity of the premutation are not associated with POF in fragile X premutation carriers., (Copyright 2010 Wiley-Liss, Inc.)

Objectives: To assess the impact of a bone-anchored hearing aid (BAHA) on the quality of life (QOL) of adults and to test the hypothesis that a BAHA improves QOL because otorrhea and/or skin irritations decrease., Design: Prospective postal-based questionnaire study using validated health-related QOL instruments, combined with hearing-aid-related questions., Patients and Methods: The study included 56 consecutive adult patients with acquired conductive or mixed hearing loss who were scheduled for BAHA implantation at the University Medical Centre Nijmegen, Nijmegen, the Netherlands. All 56 patients completed the 36-Item Short-Form Health Survey (SF-36), the EuroQol-5D (EQ-5D), and the Hearing Handicap and Disability Inventory (HHDI); 36 patients had been using an air-conduction hearing aid (ACHA) and 20 patients a conventional bone-conduction hearing aid (CBHA). Questionnaires were filled out before surgery and after 6 months of experience with the BAHA., Results: In the SF-36 group, there was significant improvement in the scores of the mental health domain (P =.02). When the SF-36 patients were classified according to previous hearing aid, there was no statistically significant change in the scores in any of the domains. In the EQ-5D group and in its ACHA and CBHA subgroups, there were no important differences in the results before and after the patients received their BAHAs. In the HHDI group, the handicap and disability scales showed significant improvement (P<.01) irrespective of the type of previously worn hearing aid., Conclusions: Overall, generic health-related QOL was not influenced significantly by the use of a BAHA according to the SF-36 and the EQ-5D. The more disease-specific scales (HHDI) did show improved QOL with a BAHA.

The implantable cardioverter defibrillator (ICD) is a therapy for patients at risk of sudden cardiac death due to ventricular tachycardia (VT) or ventricular fibrillation (VF). But the apparent high cost of ICD therapy relative to antiarrhythmic drugs such as amiodarone has raised questions about the cost effectiveness of ICD therapy versus drug therapy. To inform this debate we reviewed the literature on ICD cost effectiveness. An electronic and manual search was conducted for articles published since 1980 reporting original data on the cost effectiveness of ICD versus drug therapy for patients at risk of VT/VF. Data on costs and life-years gained were abstracted and studies were grouped into those that used decision-analysis models and those that were trial-based analyses. Cost-effectiveness ratios were inflated to 2001 US dollars. Nine studies were included in the review; five studies were modelling studies and four were part of randomised trials of ICD therapy. Studies varied in time horizon, but all except one indicated that ICD therapy was more costly than drug therapy. Early decision models assumed larger survival benefits than those observed in subsequent trials and therefore had attractive incremental cost-effectiveness ratios in the range of dollars US 27000 to dollars US 60000 per life-year gained. Trial-based studies, with the exception of one small trial, indicated cost per life-year gained in the range dollars US 44000 to dollars US 144000. Stratified analysis shows clearly that patients with a greater risk of mortality due to structural heart disease (e.g. left ventricular ejection fraction < or =35%) benefit more from ICD therapy and therefore have a more attractive cost effectiveness ratio than patients at lower risk. ICD therapy is still evolving over time with implant costs declining and device technology improving. Current evidence is that, in selected patients who are at high risk of VT/VF, ICD therapy can be a cost-effective option. Future research should focus on (i) patient selection to optimise benefits for available resources; and (ii) more comprehensive outcome measures to include health-related quality of life.

Fourteen burn patients and four normal controls were studied for the plasma activity of a myocardial depressant factor (MDF). The mean age of the burn patients was 40.4 years and the burn area was 61.9% of body surface. MDF activities were 28 +/- 3 units in the burn patients on day 1 and 56 +/- 4 units on days 4 and 5. This compares with 23 +/- 3 units for the control patients. Despite maintenance of high cardiac output by fluid therapy, only three of the 14 patients (21%) survived. Our data show the presence in burn patients of MDF, which may contribute to high mortality rates in these patients.