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Contains fulltext : 297326.pdf (Publisher’s version ) (Open Access), BACKGROUND: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS. DESIGN: Cross-sectional multicentre study. METHODS: Two-hundred-eighteen men with KS were recruited from 14 clinical study centres in 6 European countries which participated in the European dsd-LIFE study. Male normative data from a healthy and a psychiatric reference population were used for comparison. The validated World Health Organization (WHO) QOL (WHOQOL)-BREF questionnaire was used to investigate five main domains of quality of life (WHOQOL): global, physical, psychological, environment, and social. RESULTS: The QOL physical domain score was lower for men with KS compared to the healthy reference population (KS: 66.9; s.d. 19.4, n = 193; healthy reference population: 76.5; s.d. 16.2, n = 1324, P < 0.001) but higher compared to the psychiatric reference population (54.6; s.d. 20.6; n = 77, P < 0.001). The WHOQOL-psychological domain score was lower for men with KS compared to the healthy reference population (KS: 63.6; s.d. 17.8, n = 193; healthy reference population: 67.8; s.d. 15.6, n = 1324, P < 0.05) but higher compared to the psychiatric reference population (45.9; s.d. 26.0), n = 77, P < 0.001). The social domain score on the WHOQOL questionnaire was found to be lower in men with Klinefelter syndrome (KS) compared to the healthy reference population (KS: 60.0; s.d. 21.6, n = 193; healthy reference population: 68.2; s.d. 13.8, n = 1324, P < 0.001). However, this score was similar to that of the psychiatric reference population (61.0; s.d. 17.0, n = 77, P = 0.5). The WHO environment domain score of men with KS (70.0; s.d. 15.0, n = 193) was similar to the healthy reference population (70.5; s.d. 20.7, n = 1324) but higher compared to the psychiatric refe

Contains fulltext : 237261.pdf (Publisher’s version ) (Closed access), Adherence to national and international clinical practice guidelines is suboptimal throughout Europe. The European Association of Urology Guidelines Office project "IMAGINE" (IMpact Assessment of Guidelines Implementation and Education) has been developed to measure baseline adherence to urological guideline recommendations across Europe and to identify issues that drive nonadherence.

Item does not contain fulltext, BACKGROUND: Buttock claudication (BC) and erectile dysfunction (ED) are well-known complications of intentional occlusion of the internal iliac artery (IIA) in endovascular aneurysm repair (EVAR). The long-term prevalence and impact on the quality of life (QOL) is, however, often not reported. METHODS: We retrospectively identified 347 patients who underwent an EVAR between 2006 and 2016 of which 76 patients (cases) received an intentional occlusion of the IIA. 76 matched controls were found leading to a total of 152 patients. Patient notes were reviewed, a standardized telephonic interview about BC complaints was conducted and questionnaires on QOL (Vascular Quality of Life questionnaire, VascuQol-25), ED (international index of erectile function, IIEF) and walking impairment (walking impairment questionnaire, WIQ) were sent. RESULTS: Mean age of this cohort was 73 years and 89% were males. The short-term incidence of BC in the cases was 71% (N.=20/28) and the long-term incidence 57% (N.=16/28), compared to 35% (N.=8/23) and 26%(N.=6/23) in the controls (P=0.008 and P=0.024), respectively. ED occurs in 96% (N.=22/23) of the cases and in 86% of the controls (N.=18/21) (P=0.262). Cases did not show a significantly lower mean VascuQoL score (4.8) compared to controls (5.5; P=0.081). No differences were observed in WIQ scores between cases (0.58) and controls (0.60; P=0.840). CONCLUSIONS: Intentional occlusion of the IIA increased the incidence of short- and long-term BC but did not affect the prevalence of erectile dysfunction. The impact of IIA occlusion on VascuQoL and WIQ scores was limited and probably not clinically relevant.

Contains fulltext : 225056.pdf (publisher's version ) (Open Access), INTRODUCTION: Infertility is a worldwide problem and about 10%-15% of all couples will be affected by the inability to have children. In approximately 50% of infertile couples, a male factor is involved. Most of the male infertile cases are characterised as 'idiopathic', except for a small percentage of cases which are causative by a genetic aetiology. In the past decade, the role of oxidative stress related to sperm quality has been researched thoroughly and estimated to be the problem in 25%-87% of male infertility cases. Impryl is a nutritional supplement which works on the metabolic system and the regulation of oxidative stress by activating the 1-carbon cycle and therefore recycling of homocysteine. We hypothesise that the nutritional supplement Impryl in men of infertile couples might improve the ongoing pregnancy rate. METHODS AND ANALYSIS: We designed a multicentre, randomised, double-blind, placebo-controlled clinical trial. We aimed to include 1200 male adults aged 18-50 years, part of a couple that is diagnosed with infertility. The couple will either start or has already been started with fertility treatment, that is, expectative management (duration of 6 months), intrauterine insemination (IUI) with or without mild ovarian stimulation or ovulation induction, either in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI) treatment. Male participants will be randomised in either the Impryl or the placebo group, with identical appearance of the tablets to be distributed (doses: one tablet each day), for a total duration of maximal 6 months. Patients can start directly with fertility treatment and/or natural conception. The primary outcome is the number of ongoing pregnancies confirmed by ultrasound at ≥10 to 12 weeks, and conceived in the time window between randomisation up to and including month 6 of intervention use. Secondary outcomes are change in semen parameters between baseline and after 3 months of intervention in the IUI/IVF/ICSI

Contains fulltext : 206048.pdf (publisher's version ) (Open Access)

Item does not contain fulltext, STUDY QUESTION: Should fertility preservation be offered to children with Klinefelter syndrome (KS)? SUMMARY ANSWER: Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years. WHAT IS KNOWN ALREADY: KS, the most common chromosomal disorder in men leading to non-obstructive azoospermia, is caused by the presence of at least one additional X chromosome. The onset of puberty in adolescents with KS leads to progressive degeneration of the testicular environment. The impact of the subsequent tissue degeneration on fertility potential of patients with KS is unknown, but in previous literature it has been suggested that fertility preservation should be started in adolescents as early as possible. However spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. This review discusses the current evidence for fertility preservation in children and adolescents and possible prognostic markers for fertility treatment in KS. STUDY DESIGN, SIZE, DURATION: An extensive literature search was conducted, searching Pubmed, Embase, Cinahl and Web of Science from origin until April 2016 for 'Klinefelter syndrome' and 'fertility' and various synonyms. Titles and abstracts have been scanned manually by the authors for eligibility. PARTICIPANTS/MATERIALS, SETTING, METHODS: In total 76 studies were found to be eligible for inclusion in this review. Information from the papers was extracted separately by two authors. MAIN RESULTS AND THE ROLE OF CHANCE: Various studies have shown that pre-pubertal children with KS already have a reduced number of germ cells despite a normal hormonal profile during childhood. The presence of spermatozoa in the ejaculate of adolescents with KS is extremely rare. Using TESE, the retrieval rate

RU Radboud Universiteit, 29 juni 2016, Promotor : Braat, D.D.M. Co-promotores : Ramos, L., Hauwers, K.W.M. d', Hulsbergen-van de Kaa, C.A., Item does not contain fulltext

Item does not contain fulltext, During the last phase of spermatogenesis, called spermiogenesis, the nucleosome-based chromatin structure is replaced by a protamine-based DNA packaging. Not much is known about the chromatin remodelling involved in humans and animals. Here, we have investigated initiation of chromatin remodelling over seven probands of which five were diagnosed with non-obstructive azoospermia (NOA) and two with obstructive azoospermia (OA) (failed vaso-vasostomy patients with proven fertility prior to vasectomy, Johnsen scores >/=9). Chromatin remodelling was studied evaluating the presence of nucleosomes, histone H3, pre-protamine 2 and protamine 1. This approach was feasible since the local initiation of nucleosome eviction in the sub acrosomal domain, which was visible in alkaline nuclear spread preparations. The patterns of nucleosome and H3 loss were largely congruent. Nucleus wide incorporation of protamine 1 could already be observed at the late round spermatid stage. Both for nucleosome loss and for protamine 1 incorporation, there was distinct variation within and between probands. This did not relate to the efficiency of sperm production per meiocyte. Pre-protamine 2 was always confined to the subacrosomal domain, confirming the role of this area in chromatin remodelling.

Item does not contain fulltext, OBJECTIVE: Transfers to adult care can be problematic, resulting in postponement due to the protective nature of pediatric care and patient dependency. It is unknown whether these findings apply specifically to urology patients. Our department is taking part in a national general transition project. In this light, our aim was to investigate the specific needs of adolescent urologic patients, regarding their independence and transition. PATIENTS AND METHODS: 80 patients, born in 1975-1998, with a chronic bladder condition received a questionnaire. They were divided into pre- and post-transfer groups. Parents (n = 7) of post-transfer patients formed a third group. Questionnaires were based on those used in the national transition study, supplemented with urological questions. Pre-transfer patients were asked about their level of independence, what subjects were discussed during consultations, and their expectations and wishes regarding transfer. Post-transfer patients and parents were asked for their opinions on the transfer process. RESULTS: 73% (n = 58) responded (55 pre-transfer and 3 post-transfer patients plus parents). It appeared that the confidence built-up with the pediatric urologist impeded the transfer. An adequate level of disease-related knowledge was reported. Relationships, sexuality and fertility were hardly talked about (respectively n = 17, 16 and 18). Parents played an important role, which patients appreciated, confirming their dependency. Despite the 49% (n = 27) who stated they can arrange their urological care themselves, 44% (n = 24) felt ill-prepared for transfer. CONCLUSION: Although overall self-perceived knowledge is sufficient, the trust in and personal relationship with the pediatric urologist formed the greatest obstruction to successful transition. These findings have been used to improve support during transition by creating a transition protocol.

1 september 2012, Item does not contain fulltext

Item does not contain fulltext, PURPOSE: The prevalence of penile cancer varies between 1.5 (industrialized countries) and 4.5 per 100,000 men (non-industrialized countries). Predominant histological subtype is squamous cell carcinoma (SCC). Human papillomavirus (HPV) is found in 40-46% of cases: penile cancer is considered to behave as vulvar cancer. Non HPV related risk factors are lack of circumcision, phimosis, chronic inflammation, and smoking. The role of lichen sclerosus (LS) is unclear. Clinical diagnosis is difficult and treatment often mutilating. Preventive measures can be taken since the risk factors are known: the use of the prophylactic HPV vaccines may contribute. We measured the prevalence of HPV and LS in penile cancer in Belgium. MATERIALS AND METHODS: We found 76 samples of penile lesions in the archives of the departments of Histology of four university hospitals in Belgium. Real-time PCR of type-specific HPV DNA was performed targeting 18 HPV types. PRINCIPAL RESULTS: Patients with penile intraepithelial neoplasia (PeIN) were 56.1 years of age: patients with invasive penile cancer (IPC) 68.5 (p=0.009). Fifty-five samples (55/76) were adequate for HPV targeting. Overall HPV DNA was 70.9%: 89.5% in samples of PeIN (n=19) and 61.1% in samples of IPC (n=36). Invasive penile cancer samples were less likely to be HPV infected (p=0.028). HPV 16 was most prevalent: 48.3%: 20% PeIN, and 28.3% IPC. HPV DNA of the types, included in the prophylactic vaccines, was found in 33% of PeIN and 31.7% of IPC samples. Thrice, low risk HPV (lrHPV) types 6 (1 IPC) and 11 (1 PeIN, 1 IPC) were solely present. There was no difference in the presence of LS between HPV positive and HPV negative samples (p=0.944). CONCLUSIONS: Prevalence of HPV DNA in penile lesions in Belgium is high. However, the prophylactic vaccines may contribute to primary prevention of only a subset of cases. The role of LS remains unclear.

Contains fulltext : 108163.pdf (publisher's version ) (Open Access), In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice. Post-meiotically this repression is largely maintained. Disturbance of MSCI in mice leads to harmful X,Y gene expression, eventuating in spermatocyte death and sperm heterogeneity. Sperm heterogeneity is a characteristic of the human male. For this reason we were interested in the efficiency of MSCI in human primary spermatocytes. We investigated MSCI in pachytene spermatocytes of seven probands: four infertile men and three fertile controls, using direct and indirect in situ methods. A considerable degree of variation in the degree of MSCI was detected, both between and within probands. Moreover, in post-meiotic stages this variation was observed as well, indicating survival of spermatocytes with incompletely inactivated sex chromosomes. Furthermore, we investigated the presence of H3K9me3 posttranslational modifications on the X and Y chromatin. Contrary to constitutive centromeric heterochromatin, this heterochromatin marker did not specifically accumulate on the XY body, with the exception of the heterochromatic part of the Y chromosome. This may reflect the lower degree of MSCI in man compared to mouse. These results point at relaxation of MSCI, which can be explained by genetic changes in sex chromosome composition during evolution and candidates as a mechanism behind human sperm heterogeneity.

1 september 2012, Item does not contain fulltext, OBJECTIVES: To describe the type-specific prevalence of anal and cervical human papillomavirus (HPV) infections and the cytology in HIV-negative women without a history of cervical cancer, attending a colposcopy clinic. To examine if an HPV positive anal smear is related to anal pathology and consequently indicative for further examinations (high resolution anoscopy, anal biopsy). STUDY DESIGN: From 149 consecutive women an anal swab and a cervical swab were taken, using the Cervex-Brush((R)). The presence of 18 different HPV genotypes was determined using TaqMan-based real-time quantitative PCR targeting type-specific sequences of viral genes. From the fluid containing the cellular material, a liquid-based cytology sample was prepared of both collections with the robotic BD PrepStain Slide Processor. All slides were pre-screened by BD FocalPoint system and categorized from quintiles 1 to 5 and afterwards screened using targeted microscopic interpretation of selected suspicious fields using FocalPoint((R)) guided screening review stations. The 2001 Bethesda System Terminology was used for the anal slides. RESULTS: Ninety-six anal samples and all 149 cervical samples were adequate. Overall presence of HPV in the anus was 56.3% and in the cervix 53.7%. Overall, cytological abnormalities were found in 10.8% of anal smears and in 32.8% of cervical smears. HPV genotypes were identified in 47 samples on both sites: partial or complete concordance was found in 85.1%. HPV types 6, 16 and 18 were found in 27.9% and in 26.6% of the anal and cervical samples, respectively. The top three HPV types in the anus were 16, 51 and 39; in the cervix 16, 39, 51 and 56 (a shared 3(rd) place). HPV type 11 was not found. CONCLUSIONS: The presence of HPV genotypes is clearly multifocal in this study population of women attending a colposcopy clinic, with high concordance of genotypes. The number of anal HPV infections is high. Although cytological abnormalities are rare, the presence of HP

Contains fulltext : 97926.pdf (publisher's version ) (Closed access), BACKGROUND: To evaluate the safety of ICSI with epididymal sperm, this study compared children born after ICSI treatment with epididymal sperm and children conceived after IVF and ICSI with ejaculated sperm. Additionally, the results of a multidisciplinary, multicentre follow-up of the children conceived with epididymal sperm at 2 years of age are described. METHODS: This follow-up study included 378 children conceived after ICSI with epididymal sperm (percutaneous epididymal sperm aspiration: PESA group) and a control group of 1192 IVF and 1126 ICSI (with ejaculated sperm) children, all with a gestational age of 20 weeks or more. Questionnaires were sent at birth, 1 year and 4 years of age, collecting data on parental, pregnancy and child factors. A total of 148 PESA children were assessed at 2 years of age for motor performance, mental- and language development and compared with the Dutch norms. RESULTS: PESA children showed no increased risks for stillbirths, total deaths and malformations. They also did not differ from IVF and ICSI children in gender rate, birthweight and gestational age. The mental Bayley score was higher (P < 0.05) for PESA singletons and parents reported fewer (P < 0.05) behavioural problems in the PESA group than the Dutch reference group. The scores for syntactic and lexical development for the PESA singletons were better (P < 0.05) than the Dutch standards. CONCLUSIONS: ICSI with epididymal sperm does not lead to more stillbirths or congenital malformations in comparison to IVF and ICSI with ejaculated sperm and does not lead to poor development in comparison with the Dutch reference group.

Item does not contain fulltext, BACKGROUND: Near-infrared spectroscopy (NIRS) is an optical technology. It detects the hemodynamic changes in tissues via noninvasive measurement of changes in the concentration of tissue chromophores such as oxyhemoglobin (O(2)Hb) and deoxyhemoglobin (HHb). Involuntary bladder contractions may cause changes detectable by NIRS. OBJECTIVE: To address the accuracy and reproducibility of NIRS to detect the hemodynamic effects of detrusor overactivity (DO). DESIGN, SETTING, AND PARTICIPANTS: A prospective cohort study was carried out on 41 patients with overactive bladder symptoms. MEASUREMENTS: Forty-one patients underwent one or more filling cystometries with simultaneous NIRS of the bladder. The separated graphs representing both tests were presented to three urodynamicists on two occasions, 3 wk apart. The graphs showed curves with and without DO episodes with the bladder sensations marked. Thirteen of 47 graphs (28%) with DO and 16 of 58 graphs (28%) without DO were excluded due to motion artifacts. The urodynamicists marked pressure changes suggestive of DO on the cystometry curves. For NIRS curves they marked definite deviations from baseline. The sensitivity and specificity of NIRS for DO were determined. The inter- and intraobserver agreements were determined. RESULTS AND LIMITATIONS: Valid data from 33 of 41 patients (80%) were included in the analysis. The interobserver agreement to trace the effect of DO on NIRS curves was "substantial" (kappa(f)>0.6). The sensitivity of the Hb(sum) (O(2)Hb+HHb) curves for DO was 62-97% with a specificity of 62-79% (area under the curve [AUC]: 0.80-0.82; p<0.001). O(2)Hb curves had 79-85% sensitivity and 82-91% specificity for DO (AUC: 0.80-0.85; p<0.001). The sensitivity and specificity of the HHb curves for DO were 71-82% and 77-82%, respectively (AUC: 0.73-0.84; p<0.001). These values represent the performance of NIRS in the data sample that is not contaminated with motion artifacts; they are not representative of a gener

Contains fulltext : 52428.pdf (publisher's version ) (Open Access), AIM: To investigate whether urine is a good medium for screening and whether there is a correlation between the amount of extracted DNA and human papillomavirus (HPV)-positivity. METHODS: In the present study, 30 first-voided urine (FVU) specimens and 20 urethroglandular swabs using cervex-brushes from male partners of HPV-positive patients, and 31 FVU specimens and 100 liquid-based cervix cytology leftovers sampled with cervix-brushes from HPV-positive women were examined for the presence of beta-globin. Oncogenic HPV were detected using type-specific PCR. RESULTS: beta-globin was found in all the brushed samples, whereas it was found in only 68.9% of the FVU specimens. HPV-PCR was positive in 60.0% of the male brushes, in 29% of the female brushes and in 0% of the male FVU specimens. DNA concentration was, respectively, 0.9998 ng/microL, 37.0598 ng/microL and 0.0207 ng/microL. CONCLUSION: Urine is not a good tool for HPV detection, probably because the low DNA concentration reflects a low amount of collected cells. beta-globin is measurable in FVU by real time quantitative PCR, but the DNA concentration is lower compared to brush sampling for both genders. beta-globin-positivity of urethral and cervical swabs is 100%, showing a higher mean concentration of DNA, leading to a higher detection rate of HPV. This is the first article linking DNA-concentration to the presence of HPV.