Search Results (100)

Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe a 12-year-old boy carrying a loss-of-function MAP1B variant, presenting with severe elimination disorders despite normal intelligence. He was referred to the genetics service due to persistent elimination issues, including daytime urinary incontinence, nocturnal enuresis, and fecal incontinence. He had normal motor and cognitive development, with an IQ of 99; however, he also presented with ADHD, short stature, microcephaly, and myopia. Brain MRI revealed bilaterial subependymal periventricular nodular heterotopia (PVNH). Audiometry showed normal bilateral hearing. Testing fragile X syndrome (FXS) and karyotype analyses yielded normal results. Whole exome sequencing (WES) revealed a nonsense pathogenic variant in MAP1B (c.895 C>T; p.Arg299*). No other family members showed a similar phenotype; however, a great-uncle and a great-aunt had a history of nocturnal enuresis until age 10. The patient’s deceased mother had short stature and psychiatric disorders, and a history of consanguinity was reported on the maternal side. This case broadens the phenotypic spectrum associated with MAP1B syndrome, suggesting that elimination disorder, frequently reported in FXS, should also be evaluated in MAP1B pathogenic variant carriers. In addition, the presence of short stature also appears to be part of the syndrome. Full article

Background/Objectives: Pelvic floor disorders (PFDs) have multifactorial etiology. This makes treatment challenging and often unsatisfactory. This project introduces robust data on risk factors for PFDs and explores opportunities for their prevention, focusing on previous gynecological surgical interventions. Methods: We conducted a retrospective analytical cohort study analyzing demographic and clinical data from 832 consecutive patients who underwent pelvic organ prolapse (POP) surgery at a teaching hospital affiliated with the University of Cologne between 2010 and 2019. Patient characteristics—including age, body mass index (BMI), parity, mode of delivery, and symptoms—were collected from medical records. Associations between patient factors and surgical history were assessed using Kendall’s Tau (KT) for correlations and relative risks (RRs) with 95% confidence intervals (CIs) to evaluate the impact of previous hysterectomies and pelvic surgeries on PFD. Results: First vaginal delivery and age were the strongest factors associated with PFD. BMI had a smaller impact, and multiple vaginal deliveries did not significantly influence apical (KT 0.037), posterior (KT 0.007), anterior midline (KT 0.015), or lateral defects (KT 0.015). Cesarean section was protective. Subtotal hysterectomy showed no significant association with PFD. Total hysterectomy was strongly associated with posterior defects (RR 4.750, 95% CI: 1.871–12.059) and anterior midline defects (RR 1.645, 95% CI: 0.654–4.139). Recurrent urinary infections were associated with abdominal colposuspension (RR 4.485, 95% CI: 1.12–18.03). Dyspareunia occurred more frequently after vaginal (RR 3.971, 95% CI: 0.78–20.14) and abdominal hysterectomy (RR 1.620, 95% CI: 0.32–8.15). Vaginal hysterectomy was linked to fecal incontinence (RR 5.559, 95% CI: 1.17–26.30), MUI (RR 2.156, 95% CI: 1.09–4.23), and UUI (RR 4.226, 95% CI: 1.82–6.85). Conclusions: The factors identified as influencing (PFD) offer a solid foundation for evidence-based patient counseling within our population. Our large dataset confirmed key risk factors, notably childbirth and advancing age. However, the influence of BMI on symptoms and anatomical defects appears to be less significant than previously assumed. Subtotal hysterectomy was not associated with new PFD in our cohort and may represent a viable option when hysterectomy is indicated, though further studies are needed to confirm this potential advantage. Full article

Constipation affects around 30% of children and in 95% of cases is functional (FC), a consequence of alterations in digestive tract peristalsis, modulated by the immune and nervous systems, bile acid metabolism, and the gut microbiota. The aim of this review was to assess the role of gut microbiota and the use of probiotics in children with constipation. The current treatment involves education, toilet training, and oral laxatives, effective in only 50% of patients. In chronic FC, the composition of the microbiota is altered, with increased abundance of Bacteroidetes, Enterobacteriaceae, and Firmicutes and decreases in Prevotella, Bifidobacteria, Faecalibacterium prausnitzii, and Clostridium leptum. Probiotics replenish lacking beneficial resident bacteria, downregulate mucosal inflammation, or produce short-chain fatty acids (SCFAs). Probiotics like Bifidobacterium breve and Bifidobacterium longum increase the defecation frequency and decrease the episodes of both fecal incontinence and abdominal pain. Bifidobacterium animalis subsp. lactis XLTG11 improves the gut microbiota by upregulating SCFA genes and downregulating those related to methane metabolism. Lactobacilli produce organic acids that stimulate bowel peristalsis and augment fecal bolus moisture. The heterogeneity of the current studies involving pediatric subjects thus far hinders the use of probiotics as a standard in the management of children with constipation. Full article

The most common anorectal disorders are fecal incontinence, functional anorectal pain, and functional defecation disorders. They are often presented by overlapping symptoms with various degrees of severity. Therefore, a personalized approach to the patient is crucial for diagnosing and determining the prognosis of the disease. Biofeedback training is appropriate to consider when the motoric function disorder is known, the patient could learn voluntary control of response, and this could further lead to an improvement in the condition. Biofeedback is recommended for short-term and long-term treatment of constipation in adults and fecal incontinence in adults. It could also be considered for treatment of specific cases of anorectal pain. As office biofeedback is often time-consuming and comes with a substantially high cost, there is an emerging trend of home biofeedback administration. However, only a few significant studies have been published on this new approach. Although comprehensive data are needed to evaluate the proper strategy and development of various treatment protocols for different types of defecation disorders, home biofeedback therapy offers a potentially effective tool in the personalized treatment of defecation disorders. Full article

Background: Anorectal Manometry (ARM) plays a crucial role in diagnosing potential motility disorders of anorectum in pediatric gastroenterology. Despite its prevalence, the predictive utility of ARM in guiding therapeutic response remains poorly characterized. Objectives: This study aims to evaluate the effectiveness of ARM in predicting therapeutic responses among children with functional constipation. Methods: A retrospective chart review was conducted at two tertiary centers examining pediatric patients who underwent ARM between January 2018 and July 2022. Key ARM parameters were analyzed, including anal resting pressure, recto-anal inhibitory reflex (RAIR), first rectal sensation, and bear-down maneuver (BDM). Therapeutic responses were assessed post-ARM, with success defined as an increase in bowel movement frequency and/or a decrease in fecal incontinence. In addition, we also intended to evaluate the eventual need for surgical intervention as another outcome. Results: The study included 327 patients, with a median age of 8.2 years. The overall therapeutic response rate was 40.7%, with stimulant laxatives showing a 48% response. Notably, lower anal resting pressures and delayed rectal sensations were associated with better therapeutic outcomes. Abnormal BDM correlated with a lack of response to therapies, while the presence of abnormal RAIR was linked to a higher eventual need for surgical intervention. Conclusions: ARM is instrumental in predicting therapeutic responses in pediatric patients with functional constipation. In addition to diagnosing HD, ARM could be an instrumental tool in identifying patients with dyssynergic defecation for early intervention with targeted therapy in age-appropriate patients. Full article

Pregnancy and childbirth can have far-reaching effects on women’s pelvic floor health. It is important to educate pregnant women about pelvic floor health and potential birth-related pelvic floor (PF) changes as part of continuous midwifery care. This scoping review aims to identify the current state of research on knowledge and knowledge gaps in pregnant women regarding the PF and PF dysfunction (PFD) in order to derive conclusions and recommendations for midwifery care and midwifery science. This review follows the Arksey and O’Malley framework and the PRISMA Statement. The literature search was conducted on databases PubMed, CINAHL, and Web of Science using various search terms and defined inclusion criteria. Eleven articles were included. The results show a considerable context-related knowledge deficit among pregnant women, with a high prevalence of PFDs such as urinary incontinence (UI), fecal incontinence (FI), or prolapse symptoms (POP). All contributions emphasize the importance of improved specific education and health advice regarding the PF and PFD for pregnant women to close knowledge gaps and promote sustainable PF health. Demands are made on the professional group ‘midwife’, which emphasize the importance of specific and target group-appropriate educational concepts on the subject of the PF and PFD. Full article

Background/Aims: The pelvic floor muscles are important structures involved in pelvic floor tone, pelvic organ support, and continence. The aim of this study was to perform an update on the pelvic floor muscle structure and function alterations of women with pelvic floor dysfunctions. Methods: A systematic search was undertaken in two electronic databases, PubMed/Medline and Ovid Discovery to find manuscripts (in English), published between 1 January 2002 and 31 July 2022, including all clinical studies using the following search terms: “muscle” or “extracellular matrix *” and “pelvic floor dysfunction *”. All clinical trials, observational, or animal studies examining the muscle and reporting pelvic floor dysfunction as a primary outcome were included. Case reports, literature reviews, conference papers and theses, and unpublished data were excluded. To ensure that no eligible articles were overlooked, the reference lists of all included papers underwent manual scrutiny. The bias level was estimated using Newcastle–Ottawa Scale (NOS) for cohort and case-control studies. A qualitative synthesis was performed. Results: The significant qualitative and quantitative heterogeneity between the studies did not allow for a quantitative analysis. Of the 30 articles selected with a total of 5592 women, 15 referred to the analysis of structural muscle defects, which included 3365 participants with urinary incontinence, pelvic organ prolapse, fecal incontinence, cistocele, rectocele, and sexual dysfunction; 10 manuscripts referred to the study of pelvic floor muscle function with a population of 2042 women, such as urinary incontinence, pelvic organ prolapse, fecal incontinence, and sexual dysfunction; and 5 papers evaluated cellular and/or molecular changes affecting the pelvic floor muscles, like urinary incontinence, pelvic organ prolapse, and rectocele, which included a total of 185 participants. Women with pelvic floor muscle defects are at greater risk of pelvic floor dysfunctions, and inversely, women with pelvic floor dysfunctions have more pelvic floor muscle defects than women without pelvic floor dysfunctions. These patients demonstrate a reduction in muscle tone, contraction strength, and resistance, a compromised neuromuscular activity, and an alteration of the normal composition and organization of the muscle cells. Conclusions: Women with pelvic floor dysfunction have anatomical muscle defects, disturbance of muscle function and cellular changes involving muscle cells and nerve fibers. Full article

Background/Objectives: Functional constipation (FC) is diagnosed using the Rome IV criteria, which require at least two of seven symptoms for diagnosis. Clinical trials evaluating FC treatments commonly use bowel movement frequency, stool consistency, and fecal incontinence as primary endpoints. However, there is limited data on whether these endpoints accurately represent the symptom distribution in children with FC. This study assessed the frequency of each criterion in a large children’s community sample to determine whether commonly used clinical trial endpoints accurately reflect symptom distribution. Methods: A cross-sectional study of school children aged 8–18 years was conducted across seven Colombian cities. Participants completed the Pediatric Gastrointestinal Symptoms Rome IV Questionnaire (QPGS-IV). The prevalence of FC and the distribution of diagnostic criteria were analyzed, calculating the percentage of each criterion. Results: 6611 children completed the questionnaires. FC was diagnosed in 12.8% of participants, making it the most common disorder of gut–brain interaction. The most reported criteria were fewer than two stools per week (66.1%) and painful bowel movements (65%), while fecal incontinence was uncommon (6.9%). 60.5% of participants met only two criteria, with two or fewer defecations per week and painful bowel movements being the most common combination. Conclusions: This study reveals significant variability in Rome IV criteria prevalence for FC, highlighting disparities between the most common endpoints in clinical trials and symptom distribution in a community-based cohort. Painful bowel movements emerged as a critical diagnostic component but remain underutilized as an endpoint in pediatric trials. These findings suggest the possible need to reassess endpoint selection in clinical trials. Full article

Background and Clinical Significance: Recto-vaginal fistulae (RVF) and fecal incontinence (FI) pose significant challenges for colorectal surgeons. Various therapeutic options have been proposed for each condition over time. Despite its procedural complexity and the risk of complications, graciloplasty remains a viable therapeutic option for both conditions, with favorable long-term results. To our knowledge, this is the first report of a case where the need to treat both conditions concurrently arose. Case Presentation: We report the case of a 54-year-old woman with severe FI and repeatedly operated on recurrent recto-vaginal fistula. The patient underwent graciloplasty to provide healthy tissue with an adequate vascular supply to both enhance the healing process of the fistula and reshape the anal canal with a circular muscular structure. Following the procedure, the patient experienced prompt symptom resolution and good clinical and functional recovery at a 1-year follow-up evaluation. Conclusions: This case report highlights the safety and effectiveness of an overlooked procedure for the treatment of large sphincter defects and concurrent recto-vaginal or recto-vaginal tears. Full article

Background: Obstetric lesions of the anal sphincter (OASIS) are tears intersecting the structure of the anus after vaginal delivery. Our aim is to provide data on the incidence of OASIS and investigate potentially connected risk factors. Methods: This is a retrospective analysis of 464 parturient patients admitted to the AOU Maggiore della Carità, Novara (Italy), in the last ten years (2013–2023), comparing 116 cases (with OASIS) versus 348 controls (with no OASIS). Results: The incidence of OASIS was 1.1%. Among the significant risk factors associated with the risk of severe perineal laceration in our sample, we observed nulliparity, previous caesarean sections, assisted reproduction technology, kilos gained during pregnancy, induced delivery, the use of oxytocin for augmentation, epidural analgesia, delivery after 40 weeks of gestation, position at delivery, the duration of labor, the application of a vacuum cup, newborn weight and head circumference. Conclusions: It was a challenge to find data on OASIS and on more preventable and modifiable risk factors. Beyond the improvement of the corresponding diagnostic and therapeutic tools, a new aim could be to stratify women giving birth based on possible risk factors. Full article

Background/Objectives: Transanal irrigation (TAI) has been recognized as a safe and effective treatment for neurological bowel dysfunction, chronic constipation or fecal incontinence and has also been proposed for patients with low anterior resection syndrome (LARS). The aim of the present systematic review was to evaluate the feasibility and effectiveness of TAI in patients with significant LARS symptoms. Methods: We performed a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and guidelines in addition to the Cochrane Handbook for Systematic Reviews of Interventions. The protocol was registered with the International Prospective Register of Systematic Reviews (PROSPERO) (CRD42023436839). The risk of bias was assessed using a modified version of the Downs and Black checklist. The main outcome was improvement in low anterior resection syndrome after TAI assessed by change in LARS score. Results: After an initial screening of 3703 studies, 9 were included and underwent qualitative synthesis (among them, 3 were randomized clinical trials). All studies recorded an improvement in LARS score following TAI procedure and almost all studies showed an improvement in other bowel function outcomes (Memorial Sloan Kettering Cancer Center Bowel Function Instrument (MSKCC BFI, ), Cleveland Clinic Incontinence Score (CCIS), visual analog scale (VAS), Cleveland Clinic Florida Fecal Incontinence Score (CCFFIS), fecal incontinence score (FI score), Obstructed Defecation Syndrome (ODS) score) and quality of life (QoL) scores. The discontinuation rate ranged from 0% to 41%. The rate of adverse events was high (from 0 to 93%); moreover, no uniformity was found in the various protocols used among the different studies. Conclusions: The results of this review show that TAI is effective in the treatment of LARS, improving the LARS score, the other bowel function outcomes and the QoL scores. The absence of a treatment protocol validated by the scientific community is reflected in the high disparity in terms of adverse events and discontinuation of therapy, in addition to representing an intrinsic limitation to the study itself. Full article

Background. Perineoplasty is a frequently performed procedure as part of prolapse surgery. Despite its frequent use, there is a lack of evidence on the optimal indication, surgical technique and adverse outcomes. We intended to gain insight into the current opinions on indications and techniques of perineoplasty among (uro)gynecologists worldwide. Methods. We conducted a survey among members of the International UroGynecological Association (IUGA) to objectify indications for perineoplasty and aspects of surgical technique. Results. A total of 114 urogynecologists responded, with 98% performing perineoplasty. A total of 85% of respondents aimed to approximate the bulbocavernosus muscle, whereas 27% aimed to include the puborectal muscle as well. A total of 86% of respondents used 1–4 resorbable sutures, especially vicryl 2/0 (39%) or vicryl 0 (52%). According to the respondents, a “wide genital hiatus at physical examination” (87%) and “subjective complaints of a wide genital hiatus” (84%) were considered good/excellent indications for perineoplasty, whereas “fecal incontinence”, “apical prolapse” and “perineal pain” were absolutely/mostly not a good indication. Reasons to not perform perineoplasty were pelvic pain (59%) and dyspareunia (64%). Most responders underlined the need for more research on this topic (8.5 out of 10). Conclusions. Perineoplasty is a frequently performed procedure. There is a wide variation in the indications for and surgical techniques of perineoplasty. Therefore, research is needed to identify which patients will benefit from perineoplasty and how to optimally perform this surgery. Full article

Background: Anorectal dysfunctions (ARDs) include fecal incontinence (FI) and functional defecation disorders (FDDs). The pelvic floor muscles play a central role in the physiology of continence and defecation. We aimed to investigate the prevalence of sarcopenia in a female group with anorectal dysfunctions and compare them with a healthy female age-matched group. As secondary objectives, the relationship between anorectal dysfunction outcomes and sarcopenia was analyzed. Methods: We conducted a single-center cross-sectional, interventional, controlled, and double-blind study involving female adults admitted to an ARD outpatient clinic assessed for FI and/or FDD. A control group was also included of age-matched women without ARD. Sarcopenia was evaluated in the entire cohort, according to the latest criteria. Statistical analysis was performed using SPSS software v.29, considering a confidence interval of 95%. Results: A total of 130 participants were included, equally divided by the two groups. The median age was 64 years. Both groups were also similar regarding body mass index (BMI), physical activity index values, and dietary patterns. Among the 130 investigated women, there were no cases of confirmed sarcopenia or severe sarcopenia, but 15 women (11.5%) had probable sarcopenia or dynapenia. The case group had significantly more probable sarcopenia than women in the control group (14 (21.5%) vs. 1 (1.5%), p < 0.001). The presence of relevant comorbidities, such as irritable bowel syndrome (IBS), urinary incontinence (UI), and meat dietary pattern (MDP), was a risk factor for probable sarcopenia. The binomial logistic regression analysis showed that probable sarcopenia (OR 3.9; CI 1.1–14.1, p = 0.039) was associated with a worse treatment response. Conclusions: Probable sarcopenia or dynapenia was significantly more prevalent in women with ARD and was a predictive factor of a worse treatment response, regardless of the ARD severity. Concomitant UI, MDP, IBS, and psychiatric conditions were significantly associated with dynapenia. The inclusion of the evaluation of sarcopenia in these patients should be considered. Full article

Introduction: Low anterior resection syndrome (LARS) can be a debilitating condition that develops after undergoing sphincter-preserving surgery for rectal cancer. Chemotherapy-induced peripheral neuropathy is a common side effect of platinum-based chemotherapy agents used as systemic therapy for rectal cancer treatment. The purpose of this study was to determine the potential relationship between CIPN and LARS. Methods: This was a retrospective review of patients who underwent a low anterior resection for rectal cancer and received systemic therapy contacted at least six months from the most recent surgery. Eligible patients were called and completed the relevant surveys over the phone or email. Results: There was a total of 42 patients who completed the surveys with 33 (79%) having major LARS. Presence of a diverting ileostomy was the only significantly differentcharacteristic in those with major LARS versus those without. CIPN was independently associated with LARS (p = 0.046) on linear regression when controlling for neoadjuvant chemoradiation, diverting ileostomy and tumor distance from the anal verge. Conclusions: Developing severe CIPN is associated with developing LARS. Further studies evaluating the etiology behind this relationship should be conducted. Full article

Third- and fourth-degree anal sphincter injuries are among the most severe traumas women can experience during childbirth, often leading to lifelong continence issues. Despite extensive research, current repair techniques are often inadequate, failing to provide long-term efficiency. The repair of OASIS tends to worsen with time as fecal or anal incontinence increases. This article presents the risk factors for primary repair failure differently from those previously described in the literature, specifically focusing on avoidable risk factors related to obstetricians and surgeons who perform OASIS repair. After reviewing the literature, the following risk areas were identified and described: recurrent OASIS, pitfalls of the current WHO classification, surgical techniques, place in which the repair should be performed, surgical training, factors related to low volumes of patients with grade III-IV injuries, timing of the repair, and failure of primary repair. Full article