High-resolution anorectal manometry for diagnosing obstructed defecation syndrome associated with moderate rectocele compared to healthy individuals.

BACKGROUND: Few studies have investigated healthy female individuals (HFI) and those with obstructed defecation syndrome associated with moderate rectocele in women (MRW), identified using three-dimensional high-resolution anorectal manometry (3D HRAM) parameters that correlate with age stratification. OBJECTIVE: We aimed to explore the clinical diagnostic values of the MRW and HFI groups using 3D HRAM parameters related to age stratification. METHODS: A prospective non-randomized controlled trial involving 128 cases from the MRW (treatment group, 68 cases) and HFI (control group, 60 cases) groups was conducted using 3D HRAM parameters at Tianjin Union Medical Center between January 2017 and June 2022, and patients were divided into two subgroups based on their ages: the ≥50 and < 50 years subgroups. RESULTS: Multivariate binary logistic regression analysis showed that age (P = 0.024) and rectoanal inhibitory reflex (P = 0.001) were independent factors affecting the disease in the MRW group. Compared to the HFI group, the receiver operating characteristic (ROC) curve demonstrated that the 3D HRAM parameters exhibited a higher diagnostic value for age (Youden index = 0.31), urge to defecate (Youden index = 0.24), and rectoanal pressure differential (Youden index = 0.21) in the MRW group. CONCLUSIONS: Compared to the HFI group, the ROC curve of the 3D HRAM parameters suggests that age, urge to defecate, and rectoanal pressure differential in the MRW group have a significant diagnostic value. Because the Youden index is lower, 3D HRAM cannot be considered the gold standard method for diagnosing MRW.

[Dynamic magnetic resonance imaging of the pelvic floor: clinical application]. / Dynamische Magnetresonanztomographie des Beckenbodens: Klinische Anwendung.

BACKGROUND: Dynamic magnetic resonance imaging (MRI) of the pelvic floor plays a key role in imaging complex pelvic floor dysfunction. The simultaneous detection of multiple findings in a complex anatomic setting renders correct analysis and clinical interpretation challenging. OBJECTIVES: The most important aspects (anatomy of the pelvic floor, three compartment model, morphological and functional analysis, reporting) for a successful clinical use of dynamic MRI of the pelvic floor are summarized. MATERIALS AND METHODS: Review of the scientific literature on dynamic pelvic MR imaging with special consideration of the joint recommendations provided by the expert panel of ESUR/ESGAR in 2016. RESULTS: The pelvic floor is a complex anatomic structure, mainly formed by the levator ani muscle, the urethral support system and the endopelvic fascia. Firstly, morphological changes of these structures are analysed on the static sequences. Secondly, the functional analysis using the three compartment model is performed on the dynamic sequences during squeezing, straining and defecation. Pelvic organ mobility, pelvic organ prolapse, the anorectal angle and pelvic floor relaxation are measured and graded. The diagnosis of cystoceles, enteroceles, rectoceles, the uterovaginal as well as anorectal decent, intussusceptions and dyssynergic defecation should be reported using a structured report form. CONCLUSIONS: A comprehensive analysis of all morphological and functional findings during dynamic MRI of the pelvic floor can provide information missed by other imaging modalities and hence alter therapeutic strategies.

Assessment of defecation disorders using high-resolution MRI-defecography.

AIMS: The aim of this retrospective study was to try to find correlations between different diagnoses established by clinical examination, anorectal manometry and MRI-defecography and, the association with psychiatric disorders. METHODS: 44 patients (median age 53.81 years) presenting with intestinal motility disorders and who underwent clinical, biological and psychiatric examination, dynamic defecographic-MRI (resting, squeezing, straining, defecation and evacuation phases), anorectal manometry, colonoscopy. MRI was performed using the 1,5 T. RESULTS: MRI-defecography revealed the following changes: anismus (16), rectocele (12), pelvic floor dysfunction (6), peritoneocele (2), cervical-cystic-ptosis (1), rectal prolapse (6), and in 1 case the examination was normal. Hypertonic anal sphincter (16) and lack of defecation reflex (12) at anorectal manometry correlated with anismus in all patients at MRI-defecography. Lack of inhibitor anal reflex (6) was associated with rectocele (4), cervix-cysto-ptosis (1) and peritoneocele (2). Anxiety (11), depression (6) and anxiety-depressive disorders (10) were found in 27/44, somatization disorders in 9/44 and no psychiatric changes in 8/44 cases. CONCLUSION: As multiparous women are at risk for outlet obstruction constipation, MRI-defecography is suggested in this category. There is good correlation between diagnosis using anorectal manometry and MRI-defecography in patients with terminal constipation and anismus. Lower defecation dysfunction is often associated with psychiatric disorders.

Rectocele: Incidental or important? Observe or operate? Contemporary diagnosis and management in the multidisciplinary era.

BACKGROUND: More common in older women than younger women, rectoceles may be secondary to pelvic floor weakness and/or pelvic floor dysfunction with impaired rectal evacuation. Rectoceles may be small (<2 cm), medium (2-4 cm), or large (>4 cm). Arguably, large rectoceles are more likely to be associated with symptoms (e.g., difficult defecation). It can be challenging to ascertain the extent to which a rectocele is secondary to pelvic floor dysfunction and/or whether a rectocele, rather than associated pelvic floor dysfunction, is responsible for symptoms. Surgical repair should be considered when initial treatment measures (e.g., bowel modifying agents and pelvic floor biofeedback therapy) are unsuccessful. PURPOSE: We summarize the clinical features, diagnosis, and management of rectoceles, with an emphasis on outcomes after surgical repair. This review accompanies a retrospective analysis of outcomes after multidisciplinary, transvaginal rectocele repair procedures undertaken by three colorectal surgeons in 215 patients at a large teaching hospital in the UK. A majority of patients had a large rectocele. Some patients also underwent an anterior levatorplasty and/or an enterocele repair. All patients were jointly assessed, and some patients underwent surgery by colorectal and urogynecologic surgeons. In this cohort, the perioperative data, efficacy, and harms outcomes are comparable with historical data predominantly derived from retrospective series in which patients had a good outcome (67%-78%), symptoms of difficult defecation improved (30%-50%), and patients had a recurrent rectocele 2 years after surgery (17%). Building on these data, prospective studies that rigorously evaluate outcomes after surgical repair are necessary.

Rectocele: victim of availability bias? Results of a Belgian survey of colorectal and gynecological surgeons.

INTRODUCTION AND HYPOTHESIS: Women with a symptomatic rectocele may undergo different trajectories depending on the specialty consulted. This survey aims to evaluate potential differences between colorectal surgeons and gynecologists concerning the management of a rectocele. METHODS: A web-based survey was sent to abdominal surgeons (CS group) and gynecologists (G group) asking about their perceived definition, diagnostic workup, multidisciplinary discussion (MDT) and surgical treatment of rectoceles. The answers of both groups were analyzed with the chi-square test or Fisher's exact test at p < 0.050. RESULTS: A rectocele was defined as a prolapse of the posterior vaginal wall by 78% of the G and 41% of the CS group. All gynecologists and 49% of the CS group evaluated a rectocele clinically in dorsal decubitus, with 91% of gynecologists using a speculum and 65% using the Pelvic Organ Prolapse-Quantification (POP-Q) scoring system, compared to < 1/3 of colorectal surgeons. A digital rectal examination was performed by 90% of the CS group and 57% of the G group. A transvaginal ultrasound was only used by the G group, while anal manometry was opted for by the CS group (65%) and minimally by the G group (14%). In the G group, a posterior repair was the preferred surgical technique (78%), whereas 63% of the CS group preferred a rectopexy. Multidisciplinary discussions (MDT) were mostly organized ad hoc. CONCLUSIONS: An availability bias is seen in different aspects of rectocele evaluation and treatment. Colorectal surgeons and gynecologists are acting based on their training and experience. Motivation for pelvic floor MDT starts with creating awareness of the availability bias.

Does Rectocele on Defecography Equate to Rectocele on Physical Examination in Patients With Defecatory Symptoms?

OBJECTIVES: Our primary objective was to determine the association between rectocele size on defecography and physical examination in symptomatic patients. Our secondary objective was to describe the associations between both defecography and physical examination findings with defecatory symptoms and progression to surgical repair of rectocele. METHODS: We performed a retrospective review of all patients referred to a female pelvic medicine and reconstructive surgery clinic with a diagnosis of rectocele based on defecography and/or physical examination at a single institution from 2003 to 2017. Patients who did not have defecatory symptoms, did not undergo defecography imaging, or did not have a physical examination in a female pelvic medicine and reconstructive surgery clinic within 12 months of defecography imaging were excluded. RESULTS: Of 200 patients, 181 (90.5%) had a rectocele diagnosed on defecography and 170 (85%) had a rectocele diagnosed on physical examination. Pearson and Spearman tests of correlation both showed a positive relationship between the rectocele size on defecography and rectocele stage on physical examination; however, one was not reliable to predict the results of the other (Pearson correlation = 0.25; Spearman ρ = 0.29). The strongest predictor of surgery was rectocele stage on physical examination (P < 0.001). Size of rectocele on defecography was not a strong independent predictor for surgery (P = 0.01), although its significance improved with the addition of splinting (P = 0.004). CONCLUSIONS: Our results suggest that rectocele on defecography does not necessarily equate to rectocele on physical examination in patients with defecatory symptoms. Rectocele on physical examination was more predictive for surgery than rectocele on defecography.

Utility of the Mansoura Numeroalphabetic Constipation Score in detection of obstructed defaecation syndrome and prediction of the outcome of treatment.

AIM: Thorough assessment of obstructed defaecation syndrome (ODS) is imperative for the selection of treatment options. The present study aimed to examine the utility of the Mansoura Numeroalphabetic Constipation Score (MNCS) in distinguishing patients with ODS from healthy control subjects and in predicting the outcome of treatment of ODS. METHODS: Patients with ODS associated with anterior rectocele and/or rectoanal intussusception were assessed with the MNCS at the first visit to the clinic. All patients were offered conservative treatment for 3 months and patients who improved were continued on conservative treatment for six more months while patients who failed were treated surgically. The MNCS was reassessed at the end of follow-up in both groups. A cohort of healthy controls was compared to ODS patients with regard to age, sex and baseline MNCS. RESULTS: In all, 124 ODS patients and 53 healthy controls were included. The ODS patients had a significantly higher baseline MNCS than controls (9.5 ± 1.5 vs 0.76 ± 0.71, P < 0.0001). Forty of 124 patients improved after conservative management and showed a significant decrease in MNCS (6.9 ± 1.08 to 3.1 ± 1.2, P < 0.0001). Eighty-four (67.8%) patients failed to respond to conservative measures and were surgically treated, 77 (91.6%) of whom showed significant improvement in symptoms postoperatively while seven (8.4%) failed to improve; the difference in postoperative MNCS between the two groups was significant. CONCLUSION: The MNCS successfully distinguished ODS patients from controls and was able to predict the outcome of ODS treatment.

Added value of dynamic magnetic resonance images in pelvic floor dysfunction / Valor agregado das imagens de ressonância magnética dinâmica na disfunção do assoalho pélvico

ABSTRACT Purpose Pelvic floor dysfunction has a high prevalence in the adult population. The Dynamic and Multiplanar Evaluation of the Pelvic Floor (DMRIPF) represents an ideal tool for multidisciplinary management. The purpose of this analysis is to evaluate the added value of the Dynamic and Multiplanar Evaluation of the Pelvic Floor in patients with suspected pelvic floor disorders. Methods Retrospective analysis of a consecutive series of patients who underwent a DMRIPF due to suspected pelvic floor disorders between April 2005 and July 2019. Results 359 patients were included. The average number of diagnoses achieved by physical examination was 1.2 vs. 2.5 by the Dynamic and Multiplanar Evaluation of the Pelvic Floor (p < 0.001). Physical examination found a single pathology in 80.8 % of cases. Anterior rectocele (AR) was the most frequent isolated diagnosis on physical examination (68 %). On the Dynamic and Multiplanar Evaluation of the Pelvic Floor, anterior rectocele was diagnosed as an isolated condition in 10.9 %. In 231 cases, anterior rectocele was associated with up to 5 other pelvic floor disorders. The number of individuals with associated pathologies of the posterior and anterior compartments tripled. It modified physical examination findings in 17 % of individuals and, in 63.5 %, allowed the identification of additional pelvic floor pathologies that were missed by physical examination. The Dynamic and Multiplanar Evaluation of the Pelvic Floor had greater added value in patients with anterior rectocele (59.6 % vs. 20.9 %; p < 0.001). Female gender was also associated with a greater diagnostic yield (p < 0.001). Conclusion The Dynamic and Multiplanar Evaluation of the Pelvic Floor allows the detection of multi-compartment defects that could otherwise go undetected, or even alter the initial clinical diagnosis, representing an ideal tool for multidisciplinary approach of pelvic floor dislocations, allowing a comprehensive therapeutic planning.

RESUMO Objetivo A disfunção do assoalho pélvico tem alta prevalência na população adulta. A avaliação dinâmica e multiplanar do assoalho pélvico (DMRIPF) representa uma ferramenta ideal para o gerenciamento multidisciplinar. O objetivo desta análise é avaliar o valor agregado da avaliação dinâmica e multiplanar do assoalho pélvico em pacientes com suspeita de distúrbios do assoalho pélvico. Métodos Análise retrospectiva de uma série consecutiva de pacientes submetidos à avaliação dinâmica e multiplanar do assoalho pélvico por suspeita de distúrbios do assoalho pélvico entre Abril de 2005 e Julho de 2019. Resultados 359 pacientes foram incluídos. O número médio de diagnósticos alcançados pelo exame físico foi de 1,2vs. 2,5 pela avaliação dinâmica e multiplanar do assoalho pélvico p < 0,001. O exame físico encontrou uma única patologia em 80.8 % dos casos. A retocele anterior (RA) foi o diagnóstico isolado mais frequente no exame físico (68 %). Na avaliação dinâmica e multiplanar do assoalho pélvico, a retocele anterior foi diagnosticada como uma condição isolada em 10.9 %. Em 231 casos, a retocele anterior foi associada a até 5 outros distúrbios do assoalho pélvico. O número de indivíduos com patologias associadas dos compartimentos posterior e anterior triplicou. Modificou os achados do exame físico em 17 % dos indivíduos e em 63.5 %; permitiu a identificação de outras patologias do assoalho pélvico que foram esquecidas pelo exame físico. A avaliação dinâmica e multiplanar do assoalho pélvico teve maior valor agregado em pacientes com retocele anterior (59.6 % vs.20.9 %; p < 0,001. O sexo feminino também foi associado a um maior rendimento diagnóstico p < 0,001. Conclusão A avaliação dinâmica e multiplanar do assoalho pélvico permite a detecção de defeitos multicompartimentários que, de outra forma, poderiam não ser detectados, ou mesmo alterar o diagnóstico clínico inicial, representando uma ferramenta ideal para a abordagem multidisciplinar das luxações do assoalho pélvico, permitindo um planejamento terapêutico abrangente.

Early and late effects of the sequential transfixed stich technique for the treatment of the symptomatic rectocele without rectal mucosa prolapse.

BACKGROUND: Different surgical techniques have been proposed for rectocele repair. However, controversial aspects exist on the best approach to use. The study aims to report the early and late outcomes of the sequential transfixed stich technique (STST) for the treatment of rectocele in the absence of mucosal prolapse. METHODS: One hundred patients presenting a symptomatic rectocele were treated with STST from January 2010 through August 2015. Patients with mucosal prolapse were not considered eligible for STST. After a period of 24 months from surgery, all the patients were clinically evaluated with the intent to investigate the risk of recurrence of the preoperative symptoms. RESULTS: All the patients were women (median age=54.7 years; ranges=37-75). Median discharge time was 1.5 days. One-month severe complications were: hemorrhoid thrombosis (6.0%), self-solved bleeding (6.0%), urinary retention (4.0%), anal secretion (4.0%) and urinary incontinence (1.0%). No post-operative cases of fecal incontinence were observed. Two years after surgery, 76.0% of patients reported a global improvement of the preoperative symptoms, with 73 and 35% of cases showing a reduced difficulty in the evacuation and need for digitation. Only 8.0% of patients showed a recurrence of the initial symptoms. CONCLUSIONS: The STST is a feasible, safe, and cost-effective technique for the treatment of the rectocele without rectal mucosal prolapse. The method does not increase the risk of postoperative anal incontinence and presents a short hospital stay. STST presents long-term results in line with other transvaginal and transanal approaches.

Does Home Birth Reduce the Risk of Pelvic Organ Prolapse?

OBJECTIVES: To determine the relationship between vaginal birth and the development of POP among women who deliv-ered in non-hospital settings (home birth). MATERIAL AND METHODS: Data were collected retrospectively from the files of patients who presented to a hospital outpatient clinic between April 1, 2011 and April 1, 2012 with complaints of urinary incontinence, uterine sagging, vaginal mass, or vaginal pain. The patients' age, height, weight, body mass index, menopause age, number of deliveries, and presence of hypertension and diabetes mellitus were noted. Patients whose urogynecologic evaluation included POP Quantification (POP-Q) scoring were included in the study. The patients were separated into a group of women who had never given birth and another group of women with one or more deliveries. RESULTS: Of the 179 patients in the study, 28 had never given birth and 151 had given birth at least once. The nulliparous patients had no cystocele, rectocele, or uterine prolapse. The prevalence rates of cystocele, rectocele, and uterine prolapse were significantly higher in the multiparous group. Cystocele, rectocele, and uterine prolapse development were significantly correlated with number of deliveries, but there was no statistical association with age, body mass index, menopausal age, diabetes mellitus, or hypertension. univariate analysis reveals that the only factor effective in the development of cytocele, rectocele and prolapse is the number of births. CONCLUSIONS: Our study suggests that only number of deliveries is associated with development of cystocele, rectocele, and uterine prolapse in women who gave birth by vaginal route in residential settings.

Structural, functional, and symptomatic differences between women with rectocele versus cystocele and normal support.

BACKGROUND: Prolapse of the anterior and posterior vaginal walls has been generally associated with apical descent and levator ani muscle defects. However, the relative contributions of these factors to the pathophysiology of descent in the different vaginal compartments is not well understood. Furthermore, symptoms uniquely associated with prolapse in these compartments have not been well characterized. OBJECTIVES: The objectives of the study were to compare the associations between the following: (1) apical support, (2) levator ani muscles, and (3) pelvic floor symptoms in women with posterior-predominant prolapse, anterior-predominant prolapse, and normal support. STUDY DESIGN: This is a cross-sectional study with 2 case arms: 60 women with posterior prolapse, 90 with anterior prolapse, and a referent control arm with 103 asymptomatic subjects with normal support, determined from pelvic organ prolapse quantification examinations. Levator muscle defects were graded from magnetic resonance imaging. Vaginal closure forces above resting were measured with an instrumented speculum during maximal contraction. Pelvic floor symptoms were measured via the Pelvic Floor Distress Inventory-Short Form. RESULTS: Mean point C location in controls was -6.9 cm [1.5] (mean [standard deviation]); and was higher in posterior prolapse (-4.7 cm [2.7], 2.2 cm below controls) than the anterior prolapse group (-1.2 cm [4.1]; 5.6 cm below controls, P < .001 for all comparisons). Normal-appearing muscles (ie, muscle without a visible defect) occurred at similar frequencies in posterior prolapse (45%) and controls (51%, P = .43) but less often in anterior prolapse (28%, P ≤ .03 for pairwise comparisons). Major levator ani defects occurred at similar rates in women with posterior (33%) and anterior prolapse (42%, P = .27) but less often in controls (16%, P ≤ .012 for both pairwise comparisons). Similarly, there were significant differences in generated vaginal closure forces across the 3 groups, with the prolapse groups generating weaker closure forces than the control group (P = .004), but the differences between the 2 prolapse groups were not significant after controlling for prolapse size (P = .43). Pelvic floor symptoms were more severe for the posterior (mean Pelvic Floor Distress Inventory score, 129) and anterior prolapse groups (score, 128) than the controls (score, 40.2, P < .001 for both comparisons); the difference between the 2 prolapse groups was not significant (P = .83). CONCLUSION: Posterior-predominant prolapse involves an almost 3-fold less apical descent below normal than anterior-predominant vaginal prolapse. Levator ani defects and muscle impairment also have a lower impact. Pelvic floor symptoms reflect the presence and size of prolapse more than the predominant lax vaginal compartment.

The association between a positive lactulose methane breath test and rectocele in constipated patients.

OBJECTIVES: Rectocele with constipation might be related to methane (CH4) producing intestinal bacteria. We investigated the breath CH4 levels and the clinical characteristics of colorectal motility in constipated patients with rectocele. METHODS: A database of consecutive female outpatients was reviewed for the evaluation of constipation according to the Rome III criteria. The patients underwent the lactulose CH4 breath test (LMBT), colon marker study, anorectal manometry, defecography and bowel symptom questionnaire. The profiles of the lactulose breath test (LBT) in 33 patients with rectocele (with size ≥ 2 cm) and 26 patients with functional constipation (FC) were compared with the breath test results of 30 healthy control subjects. RESULTS: The mean size of rectocele was 3.52 ± 1.06 cm. The rate of a positive LMBT (LMBT+) was significantly higher in patients with rectocele (33.3%) than in those with FC (23.1%) or healthy controls (6.7%) (p = 0.04). Breath CH4 concentration was positively correlated with rectosigmoid colon transit time in rectocele patients (γ = 0.481, p < 0.01). A maximum high pressure zone pressure > 155 mmHg was a significant independent factor of LMBT+ in rectocele patients (OR = 8.93, 95% CI = 1.14-71.4, p = 0.04). CONCLUSIONS: LMBT+ might be expected in constipated patients with rectocele. Moreover, increased rectosigmoid colonic transit or high anorectal pressure might be associated with CH4 breath levels. Breath CH4 could be an important therapeutic target for managing constipated patients with rectocele.

Transperineal rectocele repair: a systematic review.

BACKGROUND: Transperineal rectocele repairs, either as isolated fascial repair or in combination with mesh augmentation, are hypothesized to reduce the risk of complications compared with alternative techniques. AIM: The aim of this study was to ascertain long-term success and complication rates following transperineal rectocele repairs. METHOD: A literature search of PubMed and Embase was performed using the terms 'transperineal rectocele', 'rectocele', 'transperineal' and 'repair'. Prospective studies, case series and retrospective case note analyses from 1 January 1994 to 1 December 2016 were included. Those that detailed outcomes of the transperineal approach or compared it to transanal/transvaginal approaches were included. The main outcome measures were reported complications and functional outcome scores. RESULTS: A total of 14 studies were included. Of 566 patients, 333 (58.8%) underwent a transperineal rectocele repair and 220 (41.2%) a transanal repair. Complications were identified in 27 (12.3%) of the 220 transanal repairs and in 41 (12.3%) of the 333 transperineal repairs. A significant complication following transperineal repair was noted in eight studies. There are not enough data to make a reliable comparison between mesh and non-mesh transperineal repairs or to compare biological and synthetic mesh use. LIMITATIONS: Outcome reporting differed between studies, precluding a full meta-analysis. CONCLUSION: Transperineal rectocele repair offers an effective method of symptom improvement and appears to have a similar complication rate as transanal rectocele repair. Concomitant use of synthetic and biological mesh augmentation is becoming more common; however, high-quality comparative data are lacking, so a direct comparison between surgical approaches is not yet possible.

Defecographic Findings in Patients with Severe Idiopathic Chronic Constipation.

BACKGROUND/AIMS: Chronic constipation is a common gastrointestinal disorder diagnosed using Rome III criteria. Defecography is a radiographic method used to identify anatomic abnormalities of anorectum. The present study aimed to evaluate the defecographic findings in patients with severe idiopathic chronic constipation. METHODS: One hundred patients, who complained of severe idiopathic chronic constipation with abnormal balloon expulsion test, underwent defecography after injection of barium. An analysis of radiographs was performed by an expert radiologist for the diagnosis of descending perineum syndrome, rectocele, enterocele, rectal ulcer, rectal prolapse, fecal residue of post defecation, and etc. Then, they were compared between the two sexes. RESULTS: Normal defecography was only observed in two participants. Descending perineum syndrome was the most common abnormality (73.3%). The results showed that rectocele (80.8%) and descending perineum syndrome (69.2%) were most frequent in women. In males, descending perineum syndrome and rectal prolapse were more prevalent (87% and 43.5%, respectively). Compared with men, rectocele and rectal ulcer were more frequently observed in women (p<0.001, and p=0.04, respectively), while men were more affected by descending perineum syndrome (p=0.04). In total, women had a greater incidence of abnormal defecographic findings compared with men (p=0.02). CONCLUSIONS: Defecography can be performed to detect anatomic abnormalities in patients with severe idiopathic chronic constipation and abnormal balloon expulsion test. This technique can assist physicians in making the most suitable decision for surgical procedure.

Admixture mapping of pelvic organ prolapse in African Americans from the Women's Health Initiative Hormone Therapy trial.

Evidence suggests European American (EA) women have two- to five-fold increased odds of having pelvic organ prolapse (POP) when compared with African American (AA) women. However, the role of genetic ancestry in relation to POP risk is not clear. Here we evaluate the association between genetic ancestry and POP in AA women from the Women's Health Initiative Hormone Therapy trial. Women with grade 1 or higher classification, and grade 2 or higher classification for uterine prolapse, cystocele or rectocele at baseline or during follow-up were considered to have any POP (N = 805) and moderate/severe POP (N = 156), respectively. Women with at least two pelvic exams with no indication for POP served as controls (N = 344). We performed case-only, and case-control admixture-mapping analyses using multiple logistic regression while adjusting for age, BMI, parity and global ancestry. We evaluated the association between global ancestry and POP using multiple logistic regression. European ancestry at the individual level was not associated with POP risk. Case-only and case-control local ancestry analyses identified two ancestry-specific loci that may be associated with POP. One locus (Chromosome 15q26.2) achieved empirically-estimated statistical significance and was associated with decreased POP odds (considering grade ≥2 POP) with each unit increase in European ancestry (OR: 0.35; 95% CI: 0.30, 0.57; p-value = 1.48x10-5). This region includes RGMA, a potent regulator of the BMP family of genes. The second locus (Chromosome 1q42.1-q42.3) was associated with increased POP odds with each unit increase in European ancestry (Odds ratio [OR]: 1.69; 95% confidence interval [CI]: 1.28, 2.22; p-value = 1.93x10-4). Although this region did not reach statistical significance after considering multiple comparisons, it includes potentially relevant genes including TBCE, and ACTA1. Unique non-overlapping European and African ancestry-specific susceptibility loci may be associated with increased POP risk.

Digital rectal examination in the evaluation of rectovaginal septal defects.

INTRODUCTION AND HYPOTHESIS: The objective was to evaluate the diagnostic potential of digital rectal examination in the identification of a true rectocele. METHODS: This is a retrospective observational study utilising 187 archived data sets of women presenting with lower urinary tract symptoms and/or pelvic organ prolapse between August 2012 and November 2013. Evaluation included a standardised interview, ICS-POPQ, rectal examination and 4D translabial ultrasound. The main outcome measure was the diagnosis of rectocele by digital rectal palpation on Valsalva manoeuvre. This diagnosis correlated with the sonographic diagnosis of rectocele to determine agreement between digital examination and ultrasound findings. RESULTS: Complete data sets were available for 180 participants. On imaging, the mean position of the rectal ampulla was 11.07 (-36.3 to 44.3) mm below the symphysis pubis; 42.8% (77) had a rectocele of a depth of ≥10 mm. On palpation, a rectocele was detected in 60 women (33%). Agreement between palpation and imaging was observed in 77%; the kappa was 0.52 (CI 0.39-0.65). On receiver operator characteristic analysis, the area under the curve was 0.854 for the relationship between rectocele pocket depth and the detection of rectocele on palpation. CONCLUSION: Moderate agreement was found between digital rectal examination for rectocele and translabial ultrasound findings of a "true rectocele". Digital rectal examination may be used to identify these defects in clinical practice. Extending the clinical examination of prolapse to include rectal examination to palpate defects in the rectovaginal septum may reduce the need for defecatory proctograms for the assessment of obstructive defecation and may help triage patients in the management of posterior compartment prolapse.

Correlation Between Echodefecography and 3-Dimensional Vaginal Ultrasonography in the Detection of Perineal Descent in Women With Constipation Symptoms.

BACKGROUND: Defecography is an established method of evaluating dynamic anorectal dysfunction, but conventional defecography does not allow for visualization of anatomic structures. OBJECTIVE: The purpose of this study was to describe the use of dynamic 3-dimensional endovaginal ultrasonography for evaluating perineal descent in comparison with echodefecography (3-dimensional anorectal ultrasonography) and to study the relationship between perineal descent and symptoms and anatomic/functional abnormalities of the pelvic floor. DESIGN: This was a prospective study. SETTING: The study was conducted at a large university tertiary care hospital. PATIENTS: Consecutive female patients were eligible if they had pelvic floor dysfunction, obstructed defecation symptoms, and a score >6 on the Cleveland Clinic Florida Constipation Scale. INTERVENTIONS: Each patient underwent both echodefecography and dynamic 3-dimensional endovaginal ultrasonography to evaluate posterior pelvic floor dysfunction. MAIN OUTCOME MEASURES: Normal perineal descent was defined on echodefecography as puborectalis muscle displacement ≤2.5 cm; excessive perineal descent was defined as displacement >2.5 cm. RESULTS: Of 61 women, 29 (48%) had normal perineal descent; 32 (52%) had excessive perineal descent. Endovaginal ultrasonography identified 27 of the 29 patients in the normal group as having anorectal junction displacement ≤1 cm (mean = 0.6 cm; range, 0.1-1.0 cm) and a mean anorectal junction position of 0.6 cm (range, 0-2.3 cm) above the symphysis pubis during the Valsalva maneuver and correctly identified 30 of the 32 patients in the excessive perineal descent group. The κ statistic showed almost perfect agreement (κ = 0.86) between the 2 methods for categorization into the normal and excessive perineal descent groups. Perineal descent was not related to fecal or urinary incontinence or anatomic and functional factors (sphincter defects, pubovisceral muscle defects, levator hiatus area, grade II or III rectocele, intussusception, or anismus). LIMITATIONS: The study did not include a control group without symptoms. CONCLUSIONS: Three-dimensional endovaginal ultrasonography is a reliable technique for assessment of perineal descent. Using this technique, excessive perineal descent can be defined as displacement of the anorectal junction >1 cm and/or its position below the symphysis pubis on Valsalva maneuver.