Anorectal dysfunction

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Anorectal malformations (ARMs) of the rectoperineal and rectovestibular fistula type (RPF/RVF) generally have a good prognosis but may be accompanied by bowel dysfunction, especially constipation. Bowel dysfunction in preschoolers may persist into adolescence and adulthood, exerting a negative effect on their quality of life. This study was designed to evaluate bowel function and identify the features of bowel dysfunction in preschoolers with RPF/RVF across type and sex differences. A total of 159 preschoolers with RPF/RVF (male RPF group, n = 95; female RPF group, n = 26; RVF, n = 38) and 128 normal control preschoolers (control group, n = 128; female control group, n = 35), according to the bowel function score (BFS) obtained through a questionnaire survey, the BFS items in the questionnaire, and the clinical characteristics of patients were compared among groups...

BACKGROUND: In cystic fibrosis (CF), coughing is associated with a risk of pelvic floor dysfunction. However, data on the prevalence of symptoms (stress urinary incontinence, bladder overactivity, dysuria, and faecal incontinence) are lacking in males and females with CF. The impact of incontinence on adherence to respiratory care has not been studied. METHODS: We conducted a multicentre study in adults with CF followed in the North-West French CF network. Urinary disorders and their severity were assessed using the Urinary Symptom Profile (USP) self-report questionnaire; the impact of urinary disorders on general quality of life was measured using the SF-Qualiveen questionnaire; faecal incontinence was assessed using the Wexner self-report questionnaire; and the CFQ-R14+ questionnaire was used to assess quality of life...

BACKGROUND: Low anterior resection syndrome (LARS) is a series of bowel dysfunction symptoms, including altered bowel frequency, irregular bowel rhythms, fecal incontinence, and constipation. LARS occurs in 80% of patients undergoing sphincter-preserving surgery, affecting patients' quality of life along with social avoidance. Different measurements and treatments have been raised to deal with LARS, but no systematic standard has been developed. OBJECTIVE AND METHODS: To promote the standardization of clinical trials and clinical management of LARS, this review summarizes the latest findings up until 2023 regarding the diagnostic criteria, assessment protocols, and treatment modalities for postoperative LARS in rectal cancer...

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center...

INTRODUCTION: Current standard treatment for patients with early rectal cancer is radical surgical resection. Although radical surgery provides effective local tumour control, it also increases the mortality risk and considerable adverse effects, including bowel, bladder, sexual dysfunction and loss of anal function, especially in patients with low-lying rectal cancer. Recent studies have shown promising synergistic effects of the combination of programmed cell death-1 (PD-1)/programmed cell death-ligand 1 (PD-L1) inhibitors and radiotherapy in improving tumour regression...

PURPOSE/OBJECTIVE(S): Rectal cancer patients reaching complete clinical response (cCR) after neoadjuvant chemoradiotherapy can be offered a nonoperative watch-and-wait (W&W) strategy. As evidence of good oncological outcomes accumulates, the functional outcomes remain less explored. The aim of this study is to comprehensively assess the long-term rectal toxicity and anorectal function in patients managed by a W&W strategy and to investigate the clinical risk factors for anorectal dysfunction...

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...

Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems...

PURPOSE: Patients with neurogenic lower urinary tract dysfunction (nLUTD) can be at risk of preventable damage to the upper urinary tract (UUT), a risk that varies with the underlying diagnosis. Existing literature fails to document precisely which domains of UUT must be followed. This review focusses on surveillance of UUT with special emphasis on high-risk nLUTD. METHODS: Narrative review of available evidence and current global guidelines to identify patients of nLUTD at higher risk of UUT damage and to define each domain that needs to be followed...

INTRODUCTION: Women with an abnormally high pelvic floor muscle tone may have a clinical presentation that is complex, involving urinary, anorectal and/or sexual dysfunction, genital/pelvic pain and psychological distress. The Amsterdam Hyperactive Pelvic Floor Scale (AHPFS) is a Dutch 30-item condition-specific self-report questionnaire developed to measure these complex pelvic pain symptoms. The aim of this study was to translate the Dutch version into Norwegian, to assess the psychometric properties, and to present a valid factor structure...

Anorectal melanoma (AM) is a rare subtype of mucosal melanoma with a poor prognosis. Given its rarity compared to its cutaneous counterpart, the benefits and side effects of immune checkpoint inhibitor (ICI) therapy and the relationship between side effects and prognosis remain unclear. Herein, we describe the clinical presentation of five patients with AM treated with ICI as well as their relationship to the treatment course and the development of immune-related adverse events (irAEs). Three patients received sequential or concurrent administrations of nivolumab and ipilimumab, one received nivolumab alone, and one received ipilimumab alone...

Intersphincteric resection (ISR) has been performed as an ultimate sphincter-sparing strategy in selected patients with low rectal cancer. Accumulating evidence suggests that ISR may be an interesting alternative to abdominoperineal resection to avoid a permanent stoma without compromising oncological outcomes. However, bowel dysfunction is a most common consequence of ISR not to be neglected. To date, limited clinical research has reported functional and quality of life outcomes according to patient-reported outcome measures...

BACKGROUND: Total intersphincteric resection (ISR) is the ultimate anus-preserving surgery for patients with ultra-low rectal cancer (ULRC), which can result in various degrees of anorectal dysfunction. Known as low anterior resection syndrome (LARS), it seriously affects the postoperative quality of life of patients. The aim of this study was to discuss the value of mesorectal reconstruction with pedicled greater omental transplantation (PGOT) to relieve LARS following total ISR in patients with ULRC, hoping to provide new ideas and strategies for the prevention and improvement of LARS...

BACKGROUND: Classification of chronic constipation (CC) into its three subtypes of slow transit constipation, defecation disorder and normal transit constipation, may improve its multifaceted management. We assessed the merits of the London classification in patients with CC, who were studied by both wireless motility capsule (WMC) and high-resolution anorectal manometry (HR-ARM), examining their relative utilities in decision-making.s PATIENTS AND METHODS: Retrospective, community-based study of prospectively collected data on patients with CC by Rome IV criteria, who underwent WMC and HR-ARM, Balloon Expulsion Test, and Rectal Sensory Testing...

This review focuses on the role of magnetic resonance imaging (MRI) in the evaluation of the gastrointestinal tract (GI MRI), analyzing the major technical advances achieved in this field, such as diffusion-weighted imaging, molecular imaging, motility studies, and artificial intelligence. Today, MRI performed with the more advanced imaging techniques allows accurate assessment of many bowel diseases, particularly inflammatory bowel disease and rectal cancer; in most of these diseases, MRI is invaluable for diagnosis, staging, and disease monitoring under treatment...

INTRODUCTION: Transanal irrigation (TAI) improves bowel function and quality of life in patients with neurogenic bowel disease compared to conservative bowel care. Its use has been extended to a range of defecatory disorders. However, data on long-term benefits and compliance are lacking. We aim to evaluate the long-term efficacy of TAI by examining compliance and patient outcomes over a five-year period. METHODS: This study is a five-year retrospective review of patients practising TAI in a district general hospital...

INTRODUCTION: The Radical soft-tissue mobilisation (RSTM) described by J.H. Kelly for bladder exstrophy repair implies a detachment of levator ani muscle insertions from the pelvic wall. The aim of this controlled study was to evaluate the impact of this procedure on subsequent anorectal function. METHODS: Monocentric controlled study of prospectively collected data of children who underwent RSTM for BEEC from 2010 to 2017. Patients born after 2017 were not included, as they were below the theoretical age of continence acquisition at the time of the study...

INTRODUCTION: Gastrointestinal dysfunction, particularly constipation, is among the most common non-motor manifestations in Parkinson's Disease (PD). We aimed to identify high-resolution anorectal manometry (HR-ARM) abnormalities in patients with PD using the London Classification. METHODS: We conducted a retrospective review of all PD patients at our institution who underwent HR-ARM and balloon expulsion test (BET) for evaluation of constipation between 2015 and 2021...

INTRODUCTION AND IMPORTANCE: Haemophilia A (HA) is a hereditary X-linked recessive hemorrhagic disorder that results from a deficiency or dysfunction of coagulation factor VIII (FVIII) caused by gene mutations. CASE PRESENTATION: This case report presents the challenging management of a 37-year-old man who developed perianal necrotizing fasciitis accompanied by severe infection, necrosis, and septic shock. The patient underwent emergency surgery. However, significant bleeding occurred during and after the surgery...