The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

International Urogynecology Journal / Anterior colporrhaphy : a standard operation? Systematic review of the technical aspects of a common procedure in randomized controlled trials

Introduction Anterior colporrhaphy (AC) is considered a standard procedure and is performed all over the world. However, not a single step of the procedure has ever been truly standardized and the rates of failure show a wide range in the literature from 0% up to 92%. The aim of this systematic review was to evaluate the differences in technique and procedure worldwide. Methods We performed a systematic literature search up to March 2016 using the MeSH terms “(anterior AND (colporrhaph* or colporhaph* or repair* or cystocel*)” using Preferred Reporting Items for Sytematic Reviews and Meta-Analyses (PRISMA). Only randomized controlled trials (RCT) were included in the systematic review. A 14-point checklist was used to assess the quality of surgery undertaken in each RCT. Results Forty RCTs from all over the world were included in the review. The indication for AC was urinary incontinence and/or pelvic organ prolapse. A detailed description of colporrhaphy was not provided even in the well-conducted RCTs. The review showed differences in each step of the procedure, in perioperative care, in anesthesia and in surgeon experience. Conclusion Our results highlight the problems concerning AC with the great range in postoperative outcomes. There is diversity in the anatomical structures used in the repair, in perioperative care and in the procedure itself.(VLID)358041

Perioperative Techniques for the Use of Botulinum Toxin in Overactive Bladder: Results of a Multinational Online Survey of Urogynecologists in Germany, Austria, and Switzerland

Introduction and Hypothesis: Botulinum toxin (BoNT) is a widely used treatment for overactive bladder (OAB). Despite its common use, no standardized treatment regimen exists so far. The aim of this survey was to evaluate the variation in perioperative treatment strategies among members of the German-speaking urogynecologic societies. Materials and Methods: A clinical practice online survey was carried out between May 2021 and May 2022, and all members of the German, Swiss, and Austrian urogynecologic societies were invited to participate. Participants were grouped in two ways. First, they were grouped into (1) urogynecologists with board certification and (2) non-board-certified general obstetricians and gynecologists (OBGYNs). Second, we set a cut-off at 20 transurethral BoNT procedures per year to differentiate between (1) high- and (2) low-volume surgeons. Results: One hundred and six completed questionnaires were received. Our results demonstrated that BoNT is mostly used as a third-line treatment (93%, n = 98/106), while high-volume surgeons used it significantly more often as a first/second-line treatment (21% vs. 6%, p = 0.029). Large variations existed in the use of perioperative antibiotics, preferred sites of injection, the number of injections, and the timing of the measurement of the postvoid residual volume (PVRV). Forty percent of participants did not offer outpatient treatment to patients. Local anesthesia (LA) was mostly used by board-certified urogynecologists (49% vs. 10%, p p = 0.002). Injections into the trigone were also more often performed by board-certified urogynecologists and high-volume surgeons (22% vs. 3% (p = 0.023) and 35% vs. 6% (p n = 57/106). Clean intermittent self-catheterization (CISC) was infrequently taught (26%). Conclusions: Our survey confirmed that BoNT is widely used by urogynecologists in the three German-speaking countries, but practice patterns vary widely, and no standardized method could be detected, despite interviewing urogynecologic experts. These results clearly demonstrate that there is a need for studies to define standardized treatment strategies for the best perioperative and surgical approach regarding the use of BoNT in patients with OAB

Wide Variation in Post-Void Residual Management after Urogynecologic Surgery: A Survey of Urogynecologists’ Practices

To date there is no standardized regimen or evidence-based practical guideline concerning post-void residual (PVR) measurement after urogynecologic surgeries. This survey aimed to evaluate current practice patterns and the approach taken among urogynecologists surrounding PVR measurement. An online survey was sent to members of several urogynecologic societies assessing pre- and postoperative management of patients undergoing urogynecologic surgery. A total of 204 urogynecologists from 21 countries participated in the survey. The vast majority of urogynecologists perform some kind of voiding trial to assess voiding function postoperatively. The cut-off values to perform catheterization, the methods of measurement, and the number of successfully passed voiding showed strong differences. Only 34.4% of the respondents consider routine PVR measurement after urogynecologic surgery to be evidence-based. PVR measurement after urogynecologic surgeries is widely performed and if pathological, it almost always provokes invasive treatment. However, there is a wide variation of implemented strategies, methods, and cut-off values. Scientific societies are challenged to devise a standardized regimen based on evidence for the management of urinary retention after urogynecologic surgery

Female Pelvic Floor Dysfunction Continues to Negatively Impact Quality-of-Life during the COVID-19 Lockdown

The COVID-19 pandemic led to dramatical changes in elective medical care. We analysed its impact on patients with female pelvic floor dysfunction during the 6 weeks of lockdown in Austria. A cross-sectional study was conducted: All 99 women who presented at the urogynaecologic outpatient clinic of the Medical University of Vienna with pelvic organ prolapse (POP) or urinary incontinence (UI) from December 2019 up to the lockdown in March 2020 were included and contacted. 97% of these women (96 participants) agreed to participate in the survey conducted to asses pelvic floor related quality of life (QoL) through telephone- interrogation. The mean age was 59 ± 14.8 years, the POP group consisted of 42 women while the UI group included 54 women. Most participants (83% of POP and 81% of UI cases) stated that their female pelvic floor dysfunction had remained equally relevant or had become even more significant during the lockdown. Associated symptoms and psychological strain also maintained their relevance during the lockdown (UI: p = 0.229; POP: p = 0.234). Furthermore, 97% of all interviewed women indicated to be strongly willing to continue their treatment. A generalised linear model regression revealed no clinical or demographic risk factors for psychological strain during the lockdown (p > 0.05). Our results demonstrate that women’s QoL remains significantly impaired by their pelvic-floor disorders even during a worldwide crisis such as COVID-19. Therefore, elective disciplines such as urogynaecology urgently require novel and innovative strategies for continued patient care even in times of a lockdown

Test-retest and intra-observer repeatability of two-, three- and four-dimensional perineal ultrasound of pelvic floor muscle anatomy and function.

The aims of the present study were to evaluate test–retest intra-observer repeatability of ultrasound measurement of the morphology and function of the pelvic floor muscles (PFMs). Seventeen subjects were tested twice. Two-, three- and four- dimensional ultrasound recorded cough, huff, muscle morphology and PFM contraction, respectively. Analyses were conducted offline. Measurements of levator hiatal dimensions demonstrated intra-class correlation coefficient (ICC) values of 0.61, 0.72, 0.86 and 0.92, for the anterior-posterior dimension, transverse dimension, resting area and narrowing during contraction, respectively. Muscle thickness showed variable reliability. ICC values for measurement of the position of the bladder neck were 0.86 and 0.82 at rest, in the vertical and horizontal direction. Displacement of the bladder neck during contraction, huff and cough demonstrated ICC values of 0.56, 0.59 and 0.51, respectively. Perineal ultrasound is a reliable method for measuring most of the tested parameters of morphology and function of the PFMs

Interobserver repeatability of three- and four-dimensional transperineal ultrasound assessment of pelvic floor muscle anatomy and function

Objective: To evaluate the interobserver repeatability of measurement of the pubovisceral muscle and levator hiatus, and the position of related organs, during rest, muscle contraction and Valsalva maneuver using three- and four-dimensional (3D and 4D) transperineal ultrasound. Methods: Seventeen women were included in the study. The position and dimensions of the pubovisceral muscle and levator hiatus in patients at rest and during contraction and Valsalva were determined from stored 3D and 4D ultrasound volumes. Analyses were conducted offline by two observers blinded to the clinical data and to each others' measurements. Results: Measurements of levator hiatal dimensions at rest demonstrated intraclass correlation coefficient (ICC) values of 0.92 to 0.96. The ICC values for pubovisceral muscle thickness at rest varied between good and very good (ICC, 0.61–0.93), regardless of plane. During contraction, the ICC values for all measured parameters were very good, varying between 0.61 and 0.92. Measurement of the transverse diameter of the levator hiatus during the Valsalva maneuver showed good reliability (ICC, 0.86), but assessment of the anterior and posterior borders of the levator hiatus was only possible in 29% of cases. Conclusions: 3D and 4D transperineal ultrasound measurement of the pubovisceral muscle and levator hiatus is reliable in women with no or minor symptoms of prolapse at rest and during contraction. The technique for recording during the Valsalva maneuver requires improvement if it is to be useful in the diagnosis of pelvic organ prolapse

Archives of Gynecology and Obstetrics / Prevalence and risk factors for pelvic floor disorders during early and late pregnancy in a cohort of Austrian women

Purpose To investigate the prevalence of pelvic floor disorders (PFDs) in a cohort of Austrian women either during their early or late pregnancy and to search for clinical risk factors which correlate with pelvic floor symptoms during pregnancy. Methods A prospective study was conducted and 200 pregnant women answered the validated German pelvic floor questionnaire during their first or third trimenon of gestation. Furthermore, a multivariate logistic regression model was used to determine independent risk factors for PFDs after adjusting for confounders. Results 96/200 (48%) women reported psychological strain in at least 1 of the 4 pelvic floor domains while the remaining 104 women (52%) were asymptomatic. Affected women showed a significant higher BMI, a more frequent positive family history and a higher rate of multiple pregnancies was noted compared to asymptomatic women (p<0.05). Furthermore, a statistically significant positive correlation could be observed between BMI, smoking and mean bladder score as well as mean prolapse score, signifying more symptom bother from bladder and prolapse in smokers with high BMI. A significant positive correlation was also detected between mean bowel score and parity. In the multivariate model, high BMI (CI 1.0131.143), positive family history (CI 0.0440.260) and multiple pregnancies (CI 0.0110.244) remained independently associated with pelvic floor symptoms (p<0.05). Conclusion Our results demonstrate that pelvic floor-related quality of life during pregnancy is a prevalent condition which is strongly affected by the expectant mothers weight as well as her family history. In addition, women with multiple pregnancies seem to be at increased risk.(VLID)496246

Prolapse surgery versus vaginal pessary in women with symptomatic pelvic organ prolapse : which factors influence the choice of treatment?

Objective To investigate which specific clinical factors influence patients choice of prolapse treatment. Methods This study includes a total of 510 cases with symptomatic pelvic organ prolapse (POP) of stage II or higher requiring prolapse treatment. Patients were divided into surgery and pessary groups according to their own choice and treatment preference. Primary outcome of interest was to define potential clinical parameters, which contribute to surgical treatment decision. Results A total of 252/510 (49%) women decided for prolapse surgery and 258/510 (51%) cases were treated conservatively with vaginal pessary. Hypertension, COPD as well as polypharmacy were parameters, which were statistically significantly more common in the pessary group compared to the surgically managed cases (p <0.05). On the contrary, women undergoing prolapse surgery were significantly younger and showed more advanced POP-Q (pelvic organ prolapse quantification) stages (p < 0.05). Clinical factors, such as BMI (body mass index), parity, mode of delivery and postmenopausal status, did not differ between the two groups (p > 0.05). Multiple logistic regression analysis revealed that advanced POP-Q stage (p < 0.001) as well as the absence of smoking (p < 0.001) were independent factors associated with surgical treatment decision. Conclusion Women, who favoured prolapse surgery, were younger and in significant better health condition (less hypertension and COPD), but showed a significantly higher POP-Q stage compared to women choosing pessary treatment. Our data indicate that women with higher POP-Q stage and non-smokers tended to decide for prolapse surgery. This information could help in clinical practice to guide patients for the best possible treatment decision and strengthen individual counselling.(VLID)365714